# Copyright (c) 1966-2025 Johns Hopkins University. Use of this file adheres to the terms specified at https://omim.org/help/agreement
# Generated: 2025-03-08
# See end of file for additional documentation on specific fields
# Chromosome	Genomic Position Start	Genomic Position End	Cyto Location	Computed Cyto Location	MIM Number	Gene/Locus And Other Related Symbols	Gene Name	Approved Gene Symbol	Entrez Gene ID	Ensembl Gene ID	Comments	Phenotypes	Mouse Gene Symbol/ID
chr1	1	27600000	1p36		612367	ALPQTL2	Alkaline phosphatase, plasma level of, QTL 2		100196914		linkage with rs1780324	{Alkaline phosphatase, plasma level of, QTL 2}, 612367 (2)	
chr1	1	123400001	1p		606788	ANON1	Anorexia nervosa, susceptibility to, 1		171514			{Anorexia nervosa, susceptibility to, 1}, 606788 (2)	
chr1	1	27600000	1p36		605462	BCC1	Basal cell carcinoma, susceptibility to, 1		100307118		associated with rs7538876	{Basal cell carcinoma, susceptibility to, 1}, 605462 (2)	
chr1	1	27600000	1p36		606928	BMND3	Bone mineral density QTL 3		246259		?another locus at 3p21	[Bone mineral density QTL 3], 606928 (2)	
chr1	1	2300000	1p36.33		618815	C1DUPp36.33, DUP1p36.33	Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster					Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster, 618815 (4), Autosomal dominant	
chr1	1	27600000	1p36		155600	CMM, MLM, DNS	Cutaneous malignant melanoma/dysplastic nevus		1243		some linkage studies negative; see 9p	{Melanoma, cutaneous malignant, 1}, 155600 (2), Autosomal dominant	
chr1	1	20100000	1pter-p36.13		115665	CTRCT8, CCV	Cataract, congenital, Volkmann type		7792		linked to Rh in Scottish family	Cataract 8, multiple types, 115665 (2), Autosomal dominant	
chr1	1	27600000	1p36		607872	DEL1p36, C1DELp36	Chromosome 1p36 deletion syndrome, distal				contiguous gene deletion syndrome	Chromosome 1p36 deletion syndrome, distal, 607872 (4), Isolated cases	
chr1	1	27600000	1p36		619343	DEL1p36, C1DELp36	Chromosome 1p36 deletion syndrome, proximal					Chromosome 1p36 deletion syndrome, proximal, 619343 (4), Autosomal dominant	
chr1	1	46300000	1p36-p34		608995	DYX8	Dyslexia, susceptibility to, 8		406874		between D1S552 and D1S1622	{Dyslexia, susceptibility to, 8}, 608995 (2), Multifactorial, Autosomal dominant	
chr1	1	27600000	1pter-p36		131190	ERPL1, HLM2	Endogenous retroviral pol gene-like sequence 1 (oncogene HLM2)						
chr1	1	27600000	1p36		605225	IBD7	Inflammatory bowel disease 7		57042		associated with rs6426833	{Inflammatory bowel disease 7}, 605225 (2)	
chr1	1	27600000	1p36		612596	MS4	Multiple sclerosis, susceptibility to, 4		100271696		associated with rs10492972	{Multiple sclerosis, susceptibility to, 4}, 612596 (2)	
chr1	1	27600000	1p36		610320	MYP14	Myopia 14		100359407		between D1S552 and D1S1622	Myopia 14, 610320 (2), Autosomal dominant	
chr1	1	123400001	1p		605606	PSORS7	Psoriasis susceptibility 7					{Psoriasis susceptibility 7}, 605606 (2)	
chr1	1	7100000	1p36.3		604008	PTPRZ2	Protein-tyrosine phosphatase, receptor-type, zeta-2	PTPRZ2	5804				
chr1	1	94300000	1pter-p22.1		154280	SAI1, MTS1, TFS1	Suppression of anchorage independence-1 (malignant transformation suppression-1)		6298				
chr1	1	27600000	1p36		618485	ZBTB40IT1	ZBTB40 intronic transcript 1, noncoding	ZBTB40-IT1	100874345				
chr1	923923	944574	1p36.33	1p36.33	616765	SAMD11, MRS	Sterile alpha motif domain-containing protein 11	SAMD11	148398	ENSG00000187634			Samd11 (MGI:2446220)
chr1	944203	959256	1p36.33	1p36.33	610770	NOC2L, NIR	NOC2-like nucleolar-associated transcriptional repressor	NOC2L	26155	ENSG00000188976			Noc2l (MGI:1931051)
chr1	960584	965719	1p36.33	1p36.33	619262	KLHL17, AF	Kelch-like 17	KLHL17	339451	ENSG00000187961			Klhl17 (MGI:2678948)
chr1	966482	975865	1p36.33	1p36.33	621052	PLEKHN1, CLPABP	Pleckstrin homology domain-containing protein N1	PLEKHN1	84069	ENSG00000187583			Plekhn1 (MGI:2387630)
chr1	975198	982093	1p36.33	1p36.33	615921	PERM1, C1orf170	PPARGC1-and ESRR-induced regulator, muscle, 1	PERM1	84808	ENSG00000187642			Perm1 (MGI:1921433)
chr1	998964	1000097	1p36.31	1p36.33	608060	HES4	Hes family bHLH transcription factor 4	HES4	57801	ENSG00000188290			
chr1	1013497	1014540	1p36.33	1p36.33	147571	ISG15, G1P2, IFI15, IMD38	ISG15 ubiquitin-like modifier	ISG15	9636	ENSG00000187608		Immunodeficiency 38, 616126 (3), Autosomal recessive	Isg15 (MGI:1855694)
chr1	1020120	1056116	1pter-p32	1p36.33	103320	AGRN, CMS8	Agrin	AGRN	375790	ENSG00000188157		Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive	Agrn (MGI:87961)
chr1	1167104	1167198	1p36.33	1p36.33	612091	MIR200B, MIRN200B	Micro RNA 200B	MIR200B	406984	ENSG00000207730			Mir200b (MGI:2676875)
chr1	1167863	1167952	1p36.33	1p36.33	612090	MIR200A, MIRN200A	Micro RNA 200A	MIR200A	406983	ENSG00000207607			Mir200a (MGI:2676874)
chr1	1169005	1169087	1p36.33	1p36.33	612094	MIR429, MIRN429	Micro RNA 429	MIR429	554210	ENSG00000198976			Mir429 (MGI:3619402)
chr1	1203508	1206592	1p36.3	1p36.33	603905	TNFRSF18, AITR, GITR	Tumor necrosis factor receptor superfamily, member 18	TNFRSF18	8784	ENSG00000186891			Tnfrsf18 (MGI:894675)
chr1	1211340	1214153	1p36	1p36.33	600315	TNFRSF4, TXGP1L, OX40, ACT35, IMD16	Tumor necrosis factor receptor superfamily, member 4	TNFRSF4	7293	ENSG00000186827	mutation identified in 1 IMD16 family	?Immunodeficiency 16, 615593 (3), Autosomal recessive	Tnfrsf4 (MGI:104512)
chr1	1216931	1232001	1p36.33	1p36.33	614282	SDF4, CAB45	Stromal cell-derived factor 4	SDF4	51150	ENSG00000078808			Sdf4 (MGI:108079)
chr1	1232237	1235041	1p36.3	1p36.33	615291	B3GALT6, SEMDJL1, EDSSPD2, ALGAZ	UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6	B3GALT6	126792	ENSG00000176022		Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive; Al-Gazali syndrome, 609465 (3), Autosomal recessive	B3galt6 (MGI:2152819)
chr1	1242453	1247280	1p36.33	1p36.33	616593	FAM132A, C1QDC2, C1QTNF12	Family with sequence similarity 132, member A	C1QTNF12	388581	ENSG00000184163			C1qtnf12 (MGI:1914639)
chr1	1253912	1273854	1p36.33	1p36.33	619756	UBE2J2, NCUBE2, UBC6	Ubiquitin-conjugating enzyme E2 J2	UBE2J2	118424	ENSG00000160087			Ube2j2 (MGI:2153608)
chr1	1280436	1292025	1p36.3-p36.2	1p36.33	601328	SCNN1D	Sodium channel epithelial 1, subunit delta	SCNN1D	6339	ENSG00000162572			
chr1	1311600	1324660	1p36.33	1p36.33	611354	INTS11, PSF3L, RC68, NEDMLOB	Integrator complex subunit 11	INTS11	54973	ENSG00000127054		Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, 620428 (3), Autosomal recessive	Ints11 (MGI:1919207)
chr1	1324802	1328896	1p36.33	1p36.33	615467	GLTPD1, CPTP	Glycolipid transfer protein domain-containing protein 1	CPTP	80772	ENSG00000224051			Cptp (MGI:1933107)
chr1	1331280	1335314	1p36.33	1p36.33	605865	TAS1R3, T1R3	Taste receptor type 1, member 3	TAS1R3	83756	ENSG00000169962			Tas1r3 (MGI:1933547)
chr1	1335278	1349418	1p36	1p36.33	601365	DVL1, DRS2	Dishevelled segment polarity protein 1	DVL1	1855	ENSG00000107404		Robinow syndrome, autosomal dominant 2, 616331 (3), Autosomal dominant	Dvl1 (MGI:94941)
chr1	1352689	1363541	1p36.33	1p36.33	617293	MXRA8, ASP3	Matrix remodeling-associated protein 8	MXRA8	54587	ENSG00000162576			Mxra8 (MGI:1922011)
chr1	1373736	1375207	1p36.3	1p36.33	609183	AURKAIP1, AKIP, AIP	Aurora kinase A-interacting protein 1	AURKAIP1	54998	ENSG00000175756			Aurkaip1 (MGI:1913327)
chr1	1385711	1399335	1p36.33	1p36.33	613482	CCNL2	Cyclin L2	CCNL2	81669	ENSG00000221978			Ccnl2 (MGI:1927119)
chr1	1401909	1407293	1p36.3-p35.2	1p36.33	611833	MRPL20	Mitochondrial ribosomal protein L20	MRPL20	55052	ENSG00000242485			Mrpl20 (MGI:2137221)
chr1	1435690	1442882	1p36.3	1p36.33	611901	VWA1, WARP, HMNR7	von Willebrand factor A domain-containing protein 1	VWA1	64856	ENSG00000179403		Neuronopathy, distal hereditary motor, autosomal recessive 7, 619216 (3), Autosomal recessive	Vwa1 (MGI:2179729)
chr1	1449689	1470163	1p36.33	1p36.33	617227	ATAD3C	ATPase family, AAA domain-containing, member 3C	ATAD3C	219293	ENSG00000215915			Atad3a (MGI:1919214)
chr1	1471765	1509466	1p36.33	1p36.33	612317	ATAD3B, TOB3, KIAA1273	ATPase family, AAA domain-containing, member 3B	ATAD3B	83858	ENSG00000160072			Atad3a (MGI:1919214)
chr1	1512162	1534685	1p36.33	1p36.33	612316	ATAD3A, HAYOS, PHRINL	ATPase family, AAA domain-containing, member 3A	ATAD3A	55210	ENSG00000197785		Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive	Atad3a (MGI:1919214)
chr1	1534778	1540624	1p36.33	1p36.33	616101	TMEM240, C1orf70, SCA21	Transmembrane protein 240	TMEM240	339453	ENSG00000205090		Spinocerebellar ataxia 21, 607454 (3), Autosomal dominant	Tmem240 (MGI:3648074)
chr1	1541673	1574863	1p36.33	1p36.33	617680	SSU72	SSU72 homolog, RNA polymerase II CTD phosphatase	SSU72	29101	ENSG00000160075			Ssu72 (MGI:1916241)
chr1	1613731	1630605	1p36.32	1p36.33	611141	MIB2	Mindbomb E3 ubiquitin protein ligase 2	MIB2	142678	ENSG00000197530			Mib2 (MGI:2679684)
chr1	1632173	1634654	1p36.3	1p36.33	603321	MMP23B, MMP22	Matrix metalloproteinase 23B	MMP23B	8510	ENSG00000189409			Mmp23 (MGI:1347361)
chr1	1635225	1659004	1p36.3	1p36.33	176873	CDK11B, CDC2L1, P58, CDK11	Cyclin-dependent kinase 11B	CDK11B	984	ENSG00000248333			Cdk11b (MGI:88353)
chr1	1661478	1692795	1p36.33	1p36.33	619315	SLC35E2B, KIAA0447	Solute carrier family 35, member E2B	SLC35E2B	728661	ENSG00000189339			Slc35e2 (MGI:2444240)
chr1	1699939	1701808	1p36.3	1p36.33	603320	MMP23A, MMP21, MIFR	Matrix metalloproteinase 23A	MMP23A	8511	ENSG00000310190			
chr1	1702379	1724357	1p36.3	1p36.33	116951	CDK11A, CDC2L2	Cyclin-dependent kinase 11A	CDK11A	728642	ENSG00000008128			Cdk11b (MGI:88353)
chr1	1751232	1780514	1p36.33-p36.21	1p36.33	611616	NADK	NAD kinase	NADK	65220	ENSG00000008130			Nadk (MGI:2183149)
chr1	1785286	1891087	1pter-p31.2	1p36.33	139380	GNB1, MRD42, MDS	Guanine nucleotide-binding protein, beta polypeptide-1	GNB1	2782	ENSG00000078369		Myelodysplastic syndrome, somatic, 614286 (3); Leukemia, acute lymphoblastic, somatic, 613065 (3); Intellectual developmental disorder, autosomal dominant 42, 616973 (3), Autosomal dominant	Gnb1 (MGI:95781)
chr1	1915260	1917296	1p36.33	1p36.33	610171	CALML6, CAGLP	Calmodulin-like 6	CALML6	163688	ENSG00000169885			
chr1	1921957	2003786	1p36.33	1p36.33	620187	CFAP74, KIAA1751, C1orf222, CILD49	Cilia- and flagella-associated protein 74	CFAP74	85452	ENSG00000142609		Ciliary dyskinesia, primary, 49, without situs inversus, 620197 (3), Autosomal recessive	Cfap74 (MGI:1917130)
chr1	2019345	2030758	1p36.3	1p36.33	137163	GABRD, GEFSP5	Gamma-aminobutyric acid (GABA) A receptor, delta	GABRD	2563	ENSG00000187730	mutation identified in 1 GEFSP5 family	{?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, 613060 (3), Autosomal dominant	Gabrd (MGI:95622)
chr1	2048504	2185395	1p36	1p36.33	176982	PRKCZ, PKC2	Protein kinase C, zeta form	PRKCZ	5590	ENSG00000067606			Prkcz (MGI:97602)
chr1	2184477	2212720	1p36.33	1p36.33	615183	C1orf86, FAAP20	Chromosome 1 open reading frame 86	FAAP20	199990	ENSG00000162585			Faap20 (MGI:1914763)
chr1	2228319	2310213	1p36.3	1p36.33-p36.32	164780	SKI, SGS	SKI protooncogene	SKI	6497	ENSG00000157933	formerly mapped to 1q22-q24	Shprintzen-Goldberg syndrome, 182212 (3), Autosomal dominant	Ski (MGI:98310)
chr1	2300001	20100000	1p36.32-p36.13		607671	DYT13	Dystonia 13, torsion		93983			Dystonia 13, torsion, 607671 (2), Autosomal dominant	
chr1	2300001	29900000	1p36.32-p35.3		606242	KONDS	Kondoh syndrome		100653373		linked to rs966321 and rs1441834	Kondoh syndrome, 606242 (2), Autosomal recessive	
chr1	2391841	2405436	1p36.32	1p36.32	620048	RER1	Retention in endoplasmic reticulum sorting receptor 1	RER1	11079	ENSG00000157916			Rer1 (MGI:1915080)
chr1	2403974	2413827	1p36.32	1p36.32	602859	PEX10, NALD, PBD6A, PBD6B	Peroxisome biogenesis factor 10	PEX10	5192	ENSG00000157911		Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3), Autosomal recessive; Peroxisome biogenesis disorder 6B, 614871 (3), Autosomal recessive	Pex10 (MGI:2684988)
chr1	2415943	2505532	1p36.32	1p36.32	612836	PLCH2, PLCL4	Phospholipase C, eta-2	PLCH2	9651	ENSG00000149527			Plch2 (MGI:2443078)
chr1	2508537	2526596	1p36	1p36.32	606162	PANK4, CTRCT49	Pantothenate kinase 4	PANK4	55229	ENSG00000157881	mutation identified in 1 CTRCT49 family	?Cataract 49, 619593 (3), Autosomal dominant	Pank4 (MGI:2387466)
chr1	2528745	2530263	1p36.31	1p36.32	607348	HES5	Hes family bHLH transcription factor 5	HES5	388585	ENSG00000197921			Hes5 (MGI:104876)
chr1	2554234	2563829	1p36.3-p36.2	1p36.32	602746	TNFRSF14, HVEM, TR2	Tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)	TNFRSF14	8764	ENSG00000157873			Tnfrsf14 (MGI:2675303)
chr1	2590639	2633016	1p36.32	1p36.32	618104	MMEL1, NEPII, NEP2, NL1, SEP	Membrane metalloendopeptidase-like 1	MMEL1	79258	ENSG00000142606			Mmel1 (MGI:1351603)
chr1	3021467	3022903	1p36.32	1p36.32	608535	ACTRT2, ARPT2, ARPM2	Actin-related protein T2	ACTRT2	140625	ENSG00000169717			Actrt2 (MGI:1920603)
chr1	3069203	3438621	1p36.3	1p36.32	605557	PRDM16, MEL1, LVNC8, CMD1LL	PR domain-containing protein 16	PRDM16	63976	ENSG00000142611		Left ventricular noncompaction 8, 615373 (3), Autosomal dominant; Cardiomyopathy, dilated, 1LL, 615373 (3), Autosomal dominant	Prdm16 (MGI:1917923)
chr1	3454665	3481113	1p36.32	1p36.32	618871	ARHGEF16	RHO guanine nucleotide exchange factor 16	ARHGEF16	27237	ENSG00000130762			Arhgef16 (MGI:2446219)
chr1	3487951	3624786	1p36.3	1p36.32	604266	MEGF6, EGFL3	Multiple epidermal growth factor-like domains 6	MEGF6	1953	ENSG00000162591			Megf6 (MGI:1919351)
chr1	3560695	3560790	1p36.32	1p36.32	615148	MIR551A	Micro RNA 551A	MIR551A	693135	ENSG00000207776			
chr1	3625015	3630127	1p36.32	1p36.32	611460	TPRG1L, FAM79A	Tumor protein p63 regulated 1-like	TPRG1L	127262	ENSG00000158109			Tprg1l (MGI:1915058)
chr1	3630770	3650103	1p36.3	1p36.32	606040	WDR8	WD repeat-containing protein 8	WRAP73	49856	ENSG00000116213			Wrap73 (MGI:1891749)
chr1	3652516	3736201	1p36	1p36.32	601990	TP73, CILD47	p53-related protein	TP73	7161	ENSG00000078900	imprinted	Ciliary dyskinesia, primary, 47, and lissencephaly, 619466 (3), Autosomal recessive	Trp73 (MGI:1336991)
chr1	3772749	3775956	1p36	1p36.32	615242	SMIM1, VEL	Small integral membrane protein 1	SMIM1	388588	ENSG00000235169		[Blood group, Vel system], 615264 (3), Autosomal recessive	Smim1 (MGI:1916109)
chr1	3778559	3796498	1p36.32	1p36.32	619154	LRRC47, KIAA1185	Leucine-rich repeat-containing protein 47	LRRC47	57470	ENSG00000130764			Lrrc47 (MGI:1920196)
chr1	3812086	3857211	1p36.32	1p36.32	616690	CEP104, GLYBP, KIAA0562, JBTS25, MRT77	Centrosomal protein, 104kD	CEP104	9731	ENSG00000116198		Joubert syndrome 25, 616781 (3), Autosomal recessive; Intellectual developmental disorder, autosomal recessive 77, 619988 (3), Autosomal recessive	Cep104 (MGI:2687282)
chr1	3857476	3885429	1p36.3	1p36.32	601883	DFFB, CAD, DFF2	DNA fragmentation factor, 40kD, beta subunit	DFFB	1677	ENSG00000169598			Dffb (MGI:1196287)
chr1	4654609	4792534	1p36.32	1p36.32	610972	AJAP1, SHREW1	Adherens junction-associated protein 1	AJAP1	55966	ENSG00000196581			Ajap1 (MGI:2685419)
chr1	5300001	20100000	1p36.31-p36.13		614414	DFNB96	Deafness, autosomal recessive 96		100861440		between rs3817914 and rs477558	Deafness, autosomal recessive 96, 614414 (2), Autosomal recessive	
chr1	5862811	5992425	1p36	1p36.31	607215	NPHP4, SLSN4	Nephrocystin 4	NPHP4	261734	ENSG00000131697		Senior-Loken syndrome 4, 606996 (3), Autosomal recessive; Nephronophthisis 4, 606966 (3), Autosomal recessive	Nphp4 (MGI:2384210)
chr1	5992676	6101180	1p36.3	1p36.31	601142	KCNAB2, KCNA2B	Potassium voltage-gated channel, shaker-related subfamily, beta member 2	KCNAB2	8514	ENSG00000069424			Kcnab2 (MGI:109239)
chr1	6101787	6180321	1p36	1p36.31	610771	CHD5, PMNDS	Chromodomain helicase DNA-binding protein 5	CHD5	26038	ENSG00000116254		Parenti-Mignot neurodevelopmental syndrome, 619873 (3), Autosomal dominant	Chd5 (MGI:3036258)
chr1	6185020	6199595	1p36.31	1p36.31	180474	RPL22, EAP	Ribosomal protein L22	RPL22	6146	ENSG00000116251	fused with AML1 in t(3;21)		Rpl22 (MGI:99262)
chr1	6206119	6221299	1p36.31	1p36.31	616923	RNF207, C1orf188	RING finger protein 207	RNF207	388591	ENSG00000158286			Rnf207 (MGI:2684989)
chr1	6221193	6235964	1p36	1p36.31	605851	ICMT	Isoprenylcysteine carboxylmethyltransferase	ICMT	23463	ENSG00000116237			Icmt (MGI:1888594)
chr1	6244179	6245578	1p36.31	1p36.31	609971	HES3	Hes family bHLH transcription factor 3	HES3	390992	ENSG00000173673			Hes3 (MGI:104877)
chr1	6247353	6261098	1p36.31	1p36.31	614269	GPR153	G protein-coupled receptor 153	GPR153	387509	ENSG00000158292			Gpr153 (MGI:1916157)
chr1	6264272	6393767	1p36	1p36.31	602587	ACOT7, BACH, LACH	Acyl-CoA thioesterase 7	ACOT7	11332	ENSG00000097021			Acot7 (MGI:1917275)
chr1	6415232	6419919	1p36.31	1p36.31	609970	HES2	Hes family bHLH transcription factor 2	HES2	54626	ENSG00000069812			Hes2 (MGI:1098624)
chr1	6424776	6461370	1p36.3-p36.1	1p36.31	606351	ESPN, USH1M	Espin	ESPN	83715	ENSG00000187017	mutation identified in 1 USH1M family	Deafness, neurosensory, without vestibular involvement, autosomal dominant, 609006 (3), Autosomal recessive; Deafness, autosomal recessive 36, 609006 (3), Autosomal recessive; ?Usher syndrome, type 1M, 618632 (3), Autosomal recessive	Espn (MGI:1861630)
chr1	6460786	6466173	1p36.3	1p36.31	603366	TNFRSF25, TNFRSF12, DR3, LARD	Tumor necrosis factor receptor superfamily, member 25	TNFRSF25	8718	ENSG00000215788			Tnfrsf25 (MGI:1934667)
chr1	6467122	6520092	1p36	1p36.31	611101	PLEKHG5, KIAA0720, HMNR4, CMTRIC	Pleckstrin homology domain- and RhoGEF domain-containing protein G5	PLEKHG5	57449	ENSG00000171680		Neuronopathy, distal hereditary motor, autosomal recessive 4, 611067 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3), Autosomal recessive	Plekhg5 (MGI:2652860)
chr1	6521347	6554513	1p36.31	1p36.31	620304	NOL9	Nucleolar protein 9	NOL9	79707	ENSG00000162408			Nol9 (MGI:1921285)
chr1	6555307	6579755	1p36	1p36.31	606225	TAS1R1, T1R1	Taste receptor type 1, member 1	TAS1R1	80835	ENSG00000173662			Tas1r1 (MGI:1927505)
chr1	6579994	6589280	1p36.3	1p36.31	165270	ZBTB48, HKR3	Zinc finger- and BTB domain-containing protein 48	ZBTB48	3104	ENSG00000204859			Zbtb48 (MGI:2140248)
chr1	6590724	6602869	1p36.31	1p36.31	616262	KLHL21, KIAA0469	Kelch-like 21	KLHL21	9903	ENSG00000162413			Klhl21 (MGI:1919288)
chr1	6613731	6624030	1p36.31	1p36.31	620054	PHF13, SPOC1	PHD finger protein 13	PHF13	148479	ENSG00000116273			Phf13 (MGI:2446217)
chr1	6624868	6635595	1p36.31	1p36.31	612532	THAP3	THAP domain-containing protein 3	THAP3	90326	ENSG00000041988			Thap3 (MGI:1917126)
chr1	6634170	6701816	1p36.31-p36.23	1p36.31	614827	DNAJC11	DNAJ/HSP40 homolog, subfamily C, member 11	DNAJC11	55735	ENSG00000007923			Dnajc11 (MGI:2443386)
chr1	6785454	7769706	1p36	1p36.31-p36.23	611501	CAMTA1, KIAA0833, CECBA	Calmodulin-binding transcription activator 1	CAMTA1	23261	ENSG00000171735		Cerebellar dysfunction with variable cognitive and behavioral abnormalities, 614756 (3), Autosomal dominant	Camta1 (MGI:2140230)
chr1	7100001	27600000	1p36.2-p36.1		600975	GLC3B	Glaucoma 3, primary infantile, B		2728			Glaucoma 3, primary infantile, B, 600975 (2), Autosomal recessive	
chr1	7100001	15900000	1p36.2		608543	SCZD12	Schizophrenia 12		619488		max lod at D1S1612	{Schizophrenia 12}, 181500 (2), Autosomal dominant	
chr1	7771296	7781432	1p36	1p36.23	603657	VAMP3	Vesicle-associated membrane protein 3	VAMP3	9341	ENSG00000049245			Vamp3 (MGI:1321389)
chr1	7784291	7845177	1p36.33-p36.21	1p36.23	603427	PER3, FASPS3	Period circadian regulator 3	PER3	8863	ENSG00000049246	mutation identified in 1 FASPS3 family	?Advanced sleep phase syndrome, familial, 3, 616882 (3), Autosomal dominant	Per3 (MGI:1277134)
chr1	7847612	7913249	1p36.23	1p36.23	604097	UTS2	Urotensin II	UTS2	10911	ENSG00000049247			Uts2 (MGI:1346329)
chr1	7915871	7940839	1p36	1p36.23	602250	TNFRSF9, ILA, CD137, IMD109	Tumor necrosis factor receptor superfamily, member 9 (interleukin-activated receptor; Ly63, mouse, homolog of)	TNFRSF9	3604	ENSG00000049249		Immunodeficiency 109 with lymphoproliferation, 620282 (3), Autosomal recessive	Tnfrsf9 (MGI:1101059)
chr1	7961711	7985505	1p36	1p36.23	602533	DJ1, PARK7	Oncogene DJ-1	PARK7	11315	ENSG00000116288		Parkinson disease 7, autosomal recessive early-onset, 606324 (3), Autosomal recessive	Park7 (MGI:2135637)
chr1	8011727	8026309	1p36	1p36.23	608069	MIG6, RALT	Mitogen-inducible gene 6	ERRFI1	54206	ENSG00000116285			Errfi1 (MGI:1921405)
chr1	8318114	8344165	1p36.2-p36.1	1p36.23	605763	SLC45A1, DNB5, IDDNPF	Solute carrier family 45, member 1	SLC45A1	50651	ENSG00000162426		Intellectual developmental disorder with neuropsychiatric features, 617532 (3), Autosomal recessive	Slc45a1 (MGI:2653235)
chr1	8352404	8817640	1p36.2-p36.1	1p36.23	605226	RERE, NEDBEH	Arginine-glutamic acid dipeptide repeats	RERE	473	ENSG00000142599		Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3), Autosomal dominant	Rere (MGI:2683486)
chr1	8861000	8878686	1p36.23	1p36.23	172430	ENO1, PPH, MPB1	Enolase-1, alpha	ENO1	2023	ENSG00000074800			Eno1,Eno1b (MGI:3648653,MGI:95393)
chr1	8945868	8975092	1p36.33-p36.22	1p36.23	114780	CA6	Carbonic anhydrase VI	CA6	765	ENSG00000131686			Car6 (MGI:1333786)
chr1	8992534	9026423	1p36.2	1p36.23	610371	SLC2A7, GLUT7	Solute carrier family 2 (facilitated glucose transporter), member 7	SLC2A7	155184	ENSG00000197241			Slc2a7 (MGI:3650865)
chr1	9035106	9094195	1p36.2	1p36.23	138230	SLC2A5, GLUT5	Solute carrier family 2 (facilitated glucose transporter), member 5	SLC2A5	6518	ENSG00000142583			Slc2a5 (MGI:1928369)
chr1	9100305	9129102	1p36.22	1p36.22	620860	GPR157	G protein-coupled receptor 157	GPR157	80045	ENSG00000180758			Gpr157 (MGI:2442046)
chr1	9151668	9151777	1p36	1p36.22	611172	MIR34A, MIRN34A	Micro RNA 34A	MIR34A	407040	ENSG00000284357			Mir34a (MGI:3619363)
chr1	9234774	9271337	1p36	1p36.22	138090	H6PD, GDH, G6PDH, CORTRD1	Hexose-6-phosphate dehydrogenase	H6PD	9563	ENSG00000049239	digenic triallelic mutations with HSD11B1	Cortisone reductase deficiency 1, 604931 (3), Autosomal recessive	H6pd (MGI:2140356)
chr1	9292894	9369532	1p36.22	1p36.22	611657	SPSB, SSB1	SPRY domain- and SOCS box-containing 1	SPSB1	80176	ENSG00000171621			Spsb1 (MGI:1921896)
chr1	9539465	9585173	1p36.22	1p36.22	610816	SLC25A33	Solute carrier family 25 (mitochondrial carrier), member 33	SLC25A33	84275	ENSG00000171612			Slc25a33 (MGI:1917806)
chr1	9627258	9729114	1p36.2	1p36.22	602839	PIK3CD, APDS, IMD14A, IMD14B, ROCHIS	Phosphatidylinositol 3-kinase, catalytic, 110kD, delta	PIK3CD	5293	ENSG00000171608	mutation identified in 1 ROCHIS family	Immunodeficiency 14A, autosomal dominant, 615513 (3), Autosomal dominant; Immunodeficiency 14B, autosomal recessive, 619281 (3), Autosomal recessive; ?Roifman-Chitayat syndrome, digenic, 613328 (3), Digenic recessive	Pik3cd (MGI:1098211)
chr1	9728926	9824526	1p36	1p36.22	611321	CLSTN1, KIAA0911	Calsyntenin 1	CLSTN1	22883	ENSG00000171603			Clstn1 (MGI:1929895)
chr1	9848276	9910269	1p36.22	1p36.22	607758	CTNNBIP1, ICAT	Catenin, beta-interacting protein 1	CTNNBIP1	56998	ENSG00000178585			Ctnnbip1 (MGI:1915756)
chr1	9922118	9943391	1p36.22	1p36.22	610458	LZIC	Leucine zipper and CTNNBIP1 domains-containing protein	LZIC	84328	ENSG00000162441			Lzic (MGI:1916401)
chr1	9942923	9996892	1p36.22	1p36.22	608700	NMNAT1, NMNAT, PNAT1, LCA9, SHILCA	Nicotinamide nucleotide adenylyltransferase 1	NMNAT1	64802	ENSG00000173614		Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis, 619260 (3), Autosomal recessive; Leber congenital amaurosis 9, 608553 (3), Autosomal recessive	Nmnat1 (MGI:1913704)
chr1	9997228	10016021	1p36.22	1p36.22	608604	RBP7, CRBP4	Retinol-binding protein 7	RBP7	116362	ENSG00000162444			Rbp7 (MGI:1890409)
chr1	10032958	10181239	1p36.3	1p36.22	613565	UBE4B, UFD2A, KIAA0684	Ubiquitination factor E4B	UBE4B	10277	ENSG00000130939			Ube4b (MGI:1927086)
chr1	10210570	10381603	1p36.2	1p36.22	605995	KIF1B, CMT2A, CMT2A1, NBLST1	Kinesin family member 1B	KIF1B	23095	ENSG00000054523		{Neuroblastoma, susceptibility to, 1}, 256700 (3), Somatic mutation, Autosomal dominant; Charcot-Marie-Tooth disease, type 2A1, 118210 (3), Autosomal dominant	Kif1b (MGI:108426)
chr1	10399064	10420511	1p36.2-p36.13	1p36.22	172200	PGD	6-phosphogluconate dehydrogenase	PGD	5226	ENSG00000142657			Pgd (MGI:97553)
chr1	10430433	10442808	1p36.22	1p36.22	609130	CENPS, APITD1, MHF1	Centromeric protein S	CENPS	378708	ENSG00000175279			Cenps (MGI:1917178)
chr1	10450031	10451998	1p36	1p36.22	602784	CORT	Cortistatin	CORT	1325	ENSG00000241563			Cort (MGI:109538)
chr1	10456522	10472529	1p36.3-p36.2	1p36.22	601882	DFFA, DFF1	DNA fragmentation factor, 45kD, alpha subunit	DFFA	1676	ENSG00000160049			Dffa (MGI:1196227)
chr1	10474950	10630758	1p36.2	1p36.22	601791	PEX14, PBD13A	Peroxisome biogenesis factor 14	PEX14	5195	ENSG00000142655		Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive	Pex14 (MGI:1927868)
chr1	10636604	10796646	1p36.22	1p36.22	609895	CASZ1, SRG	Castor zinc finger protein 1	CASZ1	54897	ENSG00000130940			Casz1 (MGI:1196251)
chr1	10946475	10982076	1p36.22	1p36.22	619700	C1orf127, CIROZ, HTX14	Chromosome 1 open reading frame 127	CIROZ	148345	ENSG00000175262		Heterotaxy, visceral, 14, autosomal, 621080 (3), Autosomal recessive	Gm572 (MGI:2685418)
chr1	11012654	11030528	1p36.2	1p36.22	605078	TARDBP, TDP43, ALS10	TAR DNA-binding protein	TARDBP	23435	ENSG00000120948	pseudogenes on 2, 6, 8, 13, 20	Frontotemporal lobar degeneration, TARDBP-related, 612069 (3), Autosomal dominant; Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3), Autosomal dominant	Tardbp (MGI:2387629)
chr1	11026523	11047239	1p36.3-p36.2	1p36.22	605102	MASP2	Mannan-binding lectin serine protease 2	MASP2	10747	ENSG00000009724		MASP2 deficiency, 613791 (3), Autosomal recessive	Masp2 (MGI:1330832)
chr1	11054589	11060018	1p36-p22	1p36.22	182891	SRM, SPS1	Spermidine synthase-1	SRM	6723	ENSG00000116649	?pseudogene on 3p14-q21		Srm (MGI:102690)
chr1	11066618	11099869	1p36.22	1p36.22	605960	EXOSC10, PMSCL2	Exosome component 10	EXOSC10	5394	ENSG00000171824			Exosc10 (MGI:1355322)
chr1	11106535	11262551	1p36.2	1p36.22	601231	MTOR, FRAP1, SKS	Mechanistic target of rapamycin	MTOR	2475	ENSG00000198793		Focal cortical dysplasia, type II, somatic, 607341 (3); Smith-Kingsmore syndrome, 616638 (3), Autosomal dominant	Mtor (MGI:1928394)
chr1	11189355	11195981	1p36.22	1p36.22	618517	ANGPTL7, CDT6	Angiopoietin-like 7	ANGPTL7	10218	ENSG00000171819			Angptl7 (MGI:3605801)
chr1	11273198	11299574	1p36.3	1p36.22	611632	UBIAD1, TERE1, SCCD	UbiA prenyltransferase domain-containing protein 1	UBIAD1	29914	ENSG00000120942		Corneal dystrophy, Schnyder type, 121800 (3), Autosomal dominant	Ubiad1 (MGI:1918957)
chr1	11479155	11537551	1p36.22	1p36.22	611251	DISP3, PTCHD2, KIAA1337	Dispatched RND transporter family, member 3	DISP3	57540	ENSG00000204624			Disp3 (MGI:2444403)
chr1	11648387	11654429	1p36	1p36.22	607112	FBXO2, FBX2, FBG1, NFB42	F-box protein 2	FBXO2	26232	ENSG00000116661			Fbxo2 (MGI:2446216)
chr1	11654407	11663327	1p36.21	1p36.22	609111	FBXO44, FBX44, FBX6A, FBG3	F-box protein 44	FBXO44	93611	ENSG00000132879			Fbxo44 (MGI:1354744)
chr1	11664200	11674354	1p36.23	1p36.22	605647	FBXO6, FBX6, FBG2	F-box protein 6	FBXO6	26270	ENSG00000116663			Fbxo6 (MGI:1354743)
chr1	11674480	11691830	1p36	1p36.22	604094	MAD2L2, MAD2B, FANCV	Mitotic arrest-deficient 2 like 2	MAD2L2	10459	ENSG00000116670	mutation identified in 1 FANCV patient; pseudogene on 14q21-q23	?Fanconi anemia, complementation group V, 617243 (3), Autosomal recessive	Mad2l2 (MGI:1919140)
chr1	11686635	11725857	1p36.22	1p36.22	612682	DRAXIN, C1orf187	Dorsal inhibitory axon guidance protein	DRAXIN	374946	ENSG00000162490			Draxin (MGI:1917683)
chr1	11736136	11750769	1p36.22	1p36.22	608729	AGTRAP	Angiotensin II receptor-associated protein	AGTRAP	57085	ENSG00000177674			Agtrap (MGI:1339977)
chr1	11785723	11805964	1p36.3	1p36.22	607093	MTHFR	Methylenetetrahydrofolate reductase	MTHFR	4524	ENSG00000177000		{Vascular disease, susceptibility to} (3); Homocystinuria due to MTHFR deficiency, 236250 (3), Autosomal recessive; {Thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Neural tube defects, susceptibility to}, 601634 (3), Autosomal recessive	Mthfr (MGI:106639)
chr1	11806191	11843130	1p36	1p36.22	602726	CLCN6, CLCN6	Chloride channel 6	CLCN6	1185	ENSG00000011021		Ceroid lipofuscinosis, neuronal, 15, 619173 (3), Autosomal dominant	Clcn6 (MGI:1347049)
chr1	11845709	11847783	1p36.2	1p36.22	108780	NPPA, PND, ANP, ATFB6, ATRST2	Natriuretic peptide precursor A	NPPA	4878	ENSG00000175206		Atrial standstill 2, 615745 (3), Autosomal recessive; Atrial fibrillation, familial, 6, 612201 (3), Autosomal dominant	Nppa (MGI:97367)
chr1	11857464	11858945	1p36.2	1p36.22	600295	NPPB, BNP	Natriuretic peptide precursor B	NPPB	4879	ENSG00000120937			Nppb (MGI:97368)
chr1	11908154	11908272	1p36.22	1p36.22	620362	RNU5E-1, RNU5E	RNA, U5E small nuclear 1	RNU5E-1	26829	ENSG00000199347			
chr1	11934717	11975537	1p36.3-p36.2	1p36.22	153454	PLOD1, LH1, LLH, EDSKCL1	Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase)	PLOD1	5351	ENSG00000083444		Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3), Autosomal recessive	Plod1 (MGI:99907)
chr1	11980444	12013508	1p36.2	1p36.22	608507	MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B, MSL	Mitofusin 2	MFN2	9927	ENSG00000116688		Lipomatosis, multiple symmetric, with or without peripheral neuropathy, 151800 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive; Hereditary motor and sensory neuropathy VIA, 601152 (3), Autosomal dominant	Mfn2 (MGI:2442230)
chr1	12019498	12032045	1p36.22	1p36.22	608772	MIIP, IIP45	Migration and invasion inhibitory protein	MIIP	60672	ENSG00000116691			Miip (MGI:106506)
chr1	12063303	12144207	1p36	1p36.22	153243	TNFRSF8, CD30, D1S166E	Tumor necrosis factor receptor superfamily, member 8 (CD30 antigen; Ki-1 antigen)	TNFRSF8	943	ENSG00000120949			Tnfrsf8 (MGI:99908)
chr1	12166991	12209220	1p36.3-p36.2	1p36.22	191191	TNFRSF1B, TNFR2, TNFBR	Tumor necrosis factor receptor superfamily, member 1B	TNFRSF1B	7133	ENSG00000028137			Tnfrsf1b (MGI:1314883)
chr1	12230030	12512047	1p36.22-p36.21	1p36.22-p36.21	608877	VPS13D, SCAR4	Vacuolar protein sorting 13 homolog D	VPS13D	55187	ENSG00000048707		Spinocerebellar ataxia, autosomal recessive 4, 607317 (3), Autosomal recessive	Vps13d (MGI:2448530)
chr1	12500001	15900000	1p36.21		609918	GBD2	Gallbladder disease 2		100048905		between D1S1597 and D1S47	Gallbladder disease 2, 609918 (2)	
chr1	12567910	12618210	1p36.1	1p36.21	612830	DHRS3, RETSDR1	Short-chain dehydrogenase/reductase family, member 3	DHRS3	9249	ENSG00000162496			Dhrs3 (MGI:1315215)
chr1	13474973	13514003	1p36.21	1p36.21	615212	LRRC38	Leucine-rich repeat-containing protein 38	LRRC38	126755	ENSG00000162494			Lrrc38 (MGI:2442845)
chr1	13583757	13617957	1p36.21	1p36.21	608863	PDPN, TI1A, T1A2, GP36, OTS8, AGGRUS	Podoplanin	PDPN	10630	ENSG00000162493			Pdpn (MGI:103098)
chr1	13700188	13825079	1p36	1p36.21	601196	PRDM2, RIZ	PR domain-containing protein 2 (retinoblastoma protein-binding zinc-finger protein RIZ)	PRDM2	7799	ENSG00000116731			Prdm2 (MGI:107628)
chr1	13892824	15118043	1p36.21	1p36.21	618301	KAZN	Kazrin, periplakin-interacting protein	KAZN	23254	ENSG00000189337			Kazn (MGI:1918779)
chr1	15236521	15403010	1p36.21	1p36.21	620889	FHAD1	Forkhead-associated phosphopeptide-binding domain-containing protein	FHAD1	114827	ENSG00000142621			Fhad1 (MGI:1920323)
chr1	15409888	15430339	1p36.21	1p36.21	616450	EFHD2, SWS1	EF-hand domain family, member D2	EFHD2	79180	ENSG00000142634			Efhd2 (MGI:106504)
chr1	15438443	15449242	1p36.21	1p36.21	601405	CTRC, CLCR	Chymotrypsin	CTRC	11330	ENSG00000162438		{Pancreatitis, chronic, susceptibility to}, 167800 (3), Autosomal dominant	Ctrc (MGI:1923951)
chr1	15456732	15472091	1p36.2	1p36.21	609443	CELA2A, ELA2A, AOMS4	Chymotrypsin-like elastase family, member 2A	CELA2A	63036	ENSG00000142615		Abdominal obesity-metabolic syndrome 4, 618620 (3), Autosomal dominant	Cela2a (MGI:95316)
chr1	15476104	15491395	1p36.2	1p36.21	609444	CELA2B, ELA2B	Chymotrypsin-like elastase family, member 2B	CELA2B	51032	ENSG00000215704			Cela2a (MGI:95316)
chr1	15491401	15524912	1p36.3-p36.1	1p36.21	602234	CASP9, APAF3	Caspase 9, apoptosis-related cysteine protease	CASP9	842	ENSG00000132906			Casp9 (MGI:1277950)
chr1	15526848	15571733	1p36.21	1p36.21	619973	DNAJC16, ERDJ8, KIAA0962	DNAJ/HSP40 heat-shock protein family, member C16	DNAJC16	23341	ENSG00000116138			Dnajc16 (MGI:2442146)
chr1	15571699	15585051	1p36.21	1p36.21	617887	AGMAT, AUH	Agmatinase	AGMAT	79814	ENSG00000116771			Agmat (MGI:1923236)
chr1	15617458	15669044	1p36.21	1p36.21	620871	DDI2	DNA damage-inducible 1 homolog 2	DDI2	84301	ENSG00000197312			Ddi2 (MGI:1917244)
chr1	15659713	15662033	1p36.1	1p36.21	601966	RSC1A1, RS1	Regulatory solute carrier protein, family 1, member 1	RSC1A1	6248	ENSG00000215695			Rsc1a1 (MGI:3526447)
chr1	15681506	15734769	1p36.21	1p36.21	609613	PLEKHM2, SKIP, KIAA0842	Pleckstrin homology domain-containing protein, family M, member 2	PLEKHM2	23207	ENSG00000116786			Plekhm2 (MGI:1916832)
chr1	15736258	15741392	1p36.21	1p36.21	610817	SLC25A34	Solute carrier family 25, member 34	SLC25A34	284723	ENSG00000162461			Slc25a34 (MGI:2686215)
chr1	15756638	15786589	1p36.13	1p36.21	607747	FBLIM1, FBLP1, MIGFILIN	Filamin-binding LIM protein 1	FBLIM1	54751	ENSG00000162458			Fblim1 (MGI:1921452)
chr1	15847707	15940456	1p36.13	1p36.21-p36.13	613484	SPEN, MINT, SHARP, HIAA0929, RATARS	Spen family transcriptional repressor	SPEN	23013	ENSG00000065526		Radio-Tartaglia syndrome, 619312 (3), Autosomal dominant	Spen (MGI:1891706)
chr1	15900001	39600000	1p36.13-p34.3		609122	ANIB3	Aneurysm, intracranial berry, 3		497657			Aneurysm, intracranial berry, 3, 609122 (2), Autosomal dominant	
chr1	15900001	39600000	1p36.13-p34.3		616055	EA8	Episodic ataxia, type 8		104326187		between rs2743201 and rs215791	Episodic ataxia, type 8, 616055 (2), Autosomal dominant	
chr1	15900001	34300000	1p36.1-p35		601201	MEMO1	Methylation modifier for class I HLA		7795				
chr1	15941869	15976101	1p36.2-p36.1	1p36.13	604084	ZBTB17, ZNF151, MIZ1	Zinc finger- and BTB domain-containing protein 17	ZBTB17	7709	ENSG00000116809			Zbtb17 (MGI:107410)
chr1	16004236	16008807	1p36.13	1p36.13	619448	SRARP, ERRF, C1orf64	Steroid receptor-associated and -regulated protein	SRARP	149563	ENSG00000183888			Srarp (MGI:2685540)
chr1	16014029	16019594	1p36.23-p34.3	1p36.13	610692	HSPB7, CVHSP	Heat-shock 27kD protein 7	HSPB7	27129	ENSG00000173641			Hspb7 (MGI:1352494)
chr1	16022036	16034050	1p36	1p36.13	602024	CLCNKA	Chloride channel, kidney, A	CLCNKA	1187	ENSG00000186510	11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB	Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive	Clcnka,Clcnkb (MGI:1329026,MGI:1930643)
chr1	16043782	16057326	1p36	1p36.13	602023	CLCNKB	Chloride channel, kidney, B	CLCNKB	1188	ENSG00000184908	unequal crossingover with CLCNKA	Bartter syndrome, type 3, 607364 (3), Autosomal recessive; Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive	Clcnka,Clcnkb (MGI:1329026,MGI:1930643)
chr1	16124337	16156069	1p36.1	1p36.13	176946	EPHA2, ECK, CTPP1, CTPA, ARCC2, CTRCT6	Ephrin receptor EphA2	EPHA2	1969	ENSG00000142627		Cataract 6, multiple types, 116600 (3), Autosomal dominant	Epha2 (MGI:95278)
chr1	16197854	16212652	1p36.13	1p36.13	612496	ARHGEF19, WGEF	RHO guanine nucleotide exchange factor 19	ARHGEF19	128272	ENSG00000142632			Arhgef19 (MGI:1925912)
chr1	16231692	16237183	1p36.1	1p36.13	620487	CPLANE2, RSG1	Ciliogenesis and planar polarity effector complex, subunit 2	CPLANE2	79363	ENSG00000132881			Cplane2 (MGI:1923416)
chr1	16246840	16352480	1p36.23-p36.11	1p36.13	609109	FBXO42, FBX42, KIAA1332	F-box protein 42	FBXO42	54455	ENSG00000037637			Fbxo42 (MGI:1924992)
chr1	16367242	16398145	1p36.13	1p36.13	620682	SZRD1, C1orf144	SUZ RNA-binding domain-containing protein 1	SZRD1	26099	ENSG00000055070			Szrd1 (MGI:1098672)
chr1	16440724	16460078	1p36.13	1p36.13	611624	NECAP2	NECAP endocytosis-associated protein 2	NECAP2	55707	ENSG00000157191			Necap2 (MGI:1913397)
chr1	16545939	16546009	1p36.13	1p36.13	189911	TRG-CCC1-1, TRNAG1, TRG1	tRNA glycine 1 (anticodon CCC) 1-1	TRG-CCC1-1	7195				
chr1	16562423	16613564	1p36.2	1p36.13	610501	NBPF1, KIAA1693	Neuroblastoma breakpoint family, member 1	NBPF1	55672	ENSG00000219481	pseudogenes on 3 and 5		
chr1	16740516	16740679	1p36.3	1p36.13	180680	RNU1A, RNU1	RNA, U1A small nuclear	RNU1-4	6060	ENSG00000207389	?same as A12M2		
chr1	16872583	16872654	1p36	1p36.13	180640	TRE-TTC3-1, TRNAE1, TRNE, TRE	tRNA glutamic acid (anticodon TTC) 3-1	TRE-TTC3-1	7193				
chr1	16914085	16972964	1p36.11	1p36.13	615776	CROCC, ROOTLETIN, KIAA0445	Ciliary rootlet coiled-coil protein	CROCC	9696	ENSG00000058453			Crocc (MGI:3529431)
chr1	16974502	16981583	1p36.1-p35	1p36.13	156790	MFAP2, MAGP, MAGP1	Microfibrillar-associated protein-2	MFAP2	4237	ENSG00000117122			Mfap2 (MGI:99559)
chr1	16985958	17011928	1p36	1p36.13	610513	ATP13A2, PARK9, KRPPD, SPG78	ATPase 13A2	ATP13A2	23400	ENSG00000159363	mutation identified in 1 family with CLN12	Spastic paraplegia 78, autosomal recessive, 617225 (3), Autosomal recessive; Kufor-Rakeb syndrome, 606693 (3), Autosomal recessive	Atp13a2 (MGI:1922022)
chr1	17018722	17054032	1p36.1-p35	1p36.13	185470	SDHB, SDH2, SDHIP, PPGL4, MC2DN4	Succinate dehydrogenase complex, iron-sulfur subunit B	SDHB	6390	ENSG00000117118	1 of 2 polypeptides	Pheochromocytoma/paraganglioma syndrome 4, 115310 (3), Autosomal dominant; Mitochondrial complex II deficiency, nuclear type 4, 619224 (3), Autosomal recessive; Gastrointestinal stromal tumor, 606764 (3), Autosomal dominant, Isolated cases; Paraganglioma and gastric stromal sarcoma, 606864 (3)	Sdhb (MGI:1914930)
chr1	17066761	17119451	1p36.13	1p36.13	607935	PADI2	Peptidylarginine deiminase, type II	PADI2	11240	ENSG00000117115			Padi2 (MGI:1338892)
chr1	17205128	17246007	1p36.13	1p36.13	607934	PADI1	Peptidylarginine deiminase, type I	PADI1	29943	ENSG00000142623			Padi1 (MGI:1338893)
chr1	17249098	17284233	1p36.13	1p36.13	606755	PADI3, UHS1	Peptidylarginine deiminase, type III	PADI3	51702	ENSG00000142619		Uncombable hair syndrome, 191480 (3), Autosomal recessive	Padi3 (MGI:1338891)
chr1	17308197	17364004	1p36.13	1p36.13	605347	PADI4, PADI5, PAD	Peptidylarginine deiminase, type IV	PADI4	23569	ENSG00000159339			Padi4 (MGI:1338898)
chr1	17372196	17401699	1p36.13	1p36.13	610363	PADI6, OZEMA16	Peptidylarginine deiminase, type VI	PADI6	353238	ENSG00000276747		Oocyte/zygote/embryo maturation arrest 16, 617234 (3), Autosomal recessive	Padi6 (MGI:2655198)
chr1	17406760	17439677	1p36.13	1p36.13	609587	RCC2, KIAA1470	Regulator of chromosome condensation 2	RCC2	55920	ENSG00000179051			Rcc2 (MGI:1919784)
chr1	17513435	17697875	1p36.13	1p36.13	612494	ARHGEF10L, GRINCHGEF, KIAA1626	RHO guanine nucleotide exchange factor 10-like protein	ARHGEF10L	55160	ENSG00000074964			Arhgef10l (MGI:1920004)
chr1	18630846	18748866	1p36.2-p36.12	1p36.13	167410	PAX7, RMS2, CMYO19	Paired box gene 7	PAX7	5081	ENSG00000009709	fused with FKHR in rhabdomyosarcoma	Congenital myopathy 19, 618578 (3), Autosomal recessive; Rhabdomyosarcoma 2, alveolar, 268220 (3), Somatic mutation	Pax7 (MGI:97491)
chr1	18839599	18859660	1p36	1p36.13	606226	TAS1R2, T1R2	Taste receptor type 1, member 2	TAS1R2	80834	ENSG00000179002			Tas1r2 (MGI:1933546)
chr1	18871430	18902555	1p36	1p36.13	606811	ALDH4A1, ALDH4, P5CDH	Aldehyde dehydrogenase 4 family, member A1 (delta-1-pyrroline 5-carboxylate dehydrogenase)	ALDH4A1	8659	ENSG00000159423		Hyperprolinemia, type II, 239510 (3), Autosomal recessive	Aldh4a1 (MGI:2443883)
chr1	19074510	19210266	1p36.13	1p36.13	609890	UBR4, ZUBR1, RBAF600, KIAA1307	Ubiquitin protein ligase E3 component n-recognin 4	UBR4	23352	ENSG00000127481			Ubr4 (MGI:1916366)
chr1	19215660	19251524	1p36.13	1p36.13	616846	EMC1, KIAA0090, CAVIPMR	Endoplasmic reticulum membrane protein complex, subunit 1	EMC1	23065	ENSG00000127463		Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3), Autosomal recessive	Emc1 (MGI:2443696)
chr1	19251805	19260128	1p36.13	1p36.13	620476	MRTO4, MRT4	MRT4 homolog, ribosome maturation factor	MRTO4	51154	ENSG00000053372			Mrto4,Mrto4-ps1,Mrto4-ps2 (MGI:1917152,MGI:3644169,MGI:3779507)
chr1	19265982	19274122	1p36.13	1p36.13	608478	AKR7A4, AFAR3	Aldo-keto reductase family 7, member A4	AKR7L	246181	ENSG00000211454			Akr7a5 (MGI:107796)
chr1	19274229	19288770	1p36.13	1p36.13	608477	AKR7A3, AFAR2	Aldo-keto reductase family 7, member A3	AKR7A3	22977	ENSG00000162482			Akr7a5 (MGI:107796)
chr1	19302708	19312146	1p36.13	1p36.13	603418	AKR7A2, AKR7, AFAR	Aldo-keto reductase family 7, member A2	AKR7A2	8574	ENSG00000053371	pseudogenes on Xq25 and 1p12		Akr7a5 (MGI:107796)
chr1	19312326	19334463	1p36.13	1p36.13	614760	SLC66A2, PQLC2	Solute carrier family 66 member 1	SLC66A1	54896	ENSG00000040487			Slc66a1 (MGI:2384837)
chr1	19338775	19485539	1p36.1	1p36.13	601572	CAPZB, CAPPB	Capping protein (actin filament) muscle Z-line, beta	CAPZB	832	ENSG00000077549			Capzb (MGI:104652)
chr1	19596979	19629820	1p36.13	1p36.13	616574	MICOS10, MINOS1, MIO10, MIC10	Mitochondrial contact site and cristae organizing system, 10kD subunit	MICOS10	440574	ENSG00000173436			Micos10 (MGI:1913628)
chr1	19643229	19658452	1p36.13-p36.11	1p36.13	600613	D1S1733E, DAN	Differential-screening-selected gene aberrant in neuroblastoma	NBL1	4681	ENSG00000158747	aberrant in some neuroblastomas		Nbl1 (MGI:104591)
chr1	19664875	19680966	1p36-p35	1p36.13	601109	HTR6	5-hydroxytryptamine (serotonin) receptor-6	HTR6	3362	ENSG00000158748			Htr6 (MGI:1196627)
chr1	19814029	19815283	1p36.13	1p36.13	617163	RNF186	RING finger protein 186	RNF186	54546	ENSG00000178828			Rnf186 (MGI:1914075)
chr1	19882395	19912945	1p36.13	1p36.13	611758	OTUD3, KIAA0459	OTU domain-containing protein 3	OTUD3	23252	ENSG00000169914			Otud3 (MGI:1920412)
chr1	19920009	19923617	1p36	1p36.13	618320	PLA2G2E	Secretory phospholipase A2, group IIE	PLA2G2E	30814	ENSG00000188784			Pla2g2e (MGI:1349660)
chr1	19975431	19980434	1p35	1p36.13	172411	PLA2G2A, PLA2B, PLA2L, MOM1	Phospholipase A2, group IIA, platelets, synovial fluid	PLA2G2A	5320	ENSG00000188257	germline mutation identified in 1 CRC patient	{?Colorectal cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant	Pla2g2a (MGI:104642)
chr1	20028408	20091911	1p36-p34	1p36.13	601192	PLA2G5, FRFB	Phospholipase A2, group V	PLA2G5	5322	ENSG00000127472		[Fleck retina, familial benign], 228980 (3), Autosomal recessive	Pla2g5 (MGI:101899)
chr1	20100001	23600000	1p36.12		612957	B6QTL1	Vitamin B6 plasma level QTL 1		100302718		associated with rs4654748	{Vitamin B6 plasma level QTL 1}, 612957 (2)	
chr1	20100001	34300000	1p36.12-p35.1		612627	BFIS4, BFIC4	Seizures, benign familial infantile, 4		100271922		between D1S2864 and D1S2830	Seizures, benign familial infantile, 4, 612627 (2)	
chr1	20111939	20119536	1p36.12	1p36.12	605630	PLA2G2D, SPLASH	Phospholipase A2, group IID	PLA2G2D	26279	ENSG00000117215			Pla2g2d (MGI:1341796)
chr1	20139323	20150381	1p35	1p36.12	616793	PLA2G2F	Phospholipase A2, group IIf	PLA2G2F	64600	ENSG00000158786			Pla2g2f (MGI:1349661)
chr1	20183331	20196050	1p36.12	1p36.12	616783	UBXN10	UBX domain protein 10	UBXN10	127733	ENSG00000162543			Ubxn10 (MGI:2443123)
chr1	20482391	20486210	1p36.12	1p36.12	614986	CAMK2N1	Calcium/calmodulin-dependent protein kinase II inhibitor 1	CAMK2N1	55450	ENSG00000162545			Camk2n1 (MGI:1913509)
chr1	20499448	20508151	1p36.12	1p36.12	612037	MUL1, MULAN, C1orf166	Mitochondrial ubiquitin ligase activator of NFKB1	MUL1	79594	ENSG00000090432			Mul1 (MGI:1915600)
chr1	20589097	20618903	1p36.2-p35	1p36.12	123920	CDA	Cytidine deaminase	CDA	978	ENSG00000158825			Cda (MGI:1919519)
chr1	20633458	20651511	1p36	1p36.12	608309	PINK1, PARK6	PTEN-induced putative kinase 1	PINK1	65018	ENSG00000158828		Parkinson disease 6, early onset, 605909 (3), Autosomal recessive	Pink1 (MGI:1916193)
chr1	20651777	20661369	1p36.1	1p36.12	602202	DDOST, OST, OST48, CDG1R	Dolichyl-diphosphooligosaccharide-protein glycosyltransferase	DDOST	1650	ENSG00000244038		Congenital disorder of glycosylation, type Ir, 614507 (3), Autosomal recessive	Ddost (MGI:1194508)
chr1	20661630	20718007	1p36.12	1p36.12	605037	KIF17, KIAA1405	Kinesin family member 17	KIF17	57576	ENSG00000117245			Kif17 (MGI:1098229)
chr1	20740266	20787307	1p36.12	1p36.12	616072	HP1BP3, HP1BP74	Heterochromatin protein 1-binding protein 3	HP1BP3	50809	ENSG00000127483			Hp1bp3 (MGI:109369)
chr1	20806292	21176897	1p36.12	1p36.12	603929	EIF4G3, EIF4GII	Eukaryotic translation initiation factor 4-gamma, 3	EIF4G3	8672	ENSG00000075151			Eif4g3 (MGI:1923935)
chr1	21217250	21345504	1p36.1	1p36.12	600423	ECE1	Endothelin converting enzyme 1	ECE1	1889	ENSG00000117298	mutation identified in 1 HCAD patient	{Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3), Autosomal dominant	Ece1 (MGI:1101357)
chr1	21436789	21484900	1p36.2	1p36.12	612992	NBPF3	Neuroblastoma breakpoint family, member 3	NBPF3	84224	ENSG00000142794			
chr1	21508984	21578410	1p36.1-p34	1p36.12	171760	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	Alkaline phosphatase, liver/bone/kidney	ALPL	249	ENSG00000162551		Odontohypophosphatasia, 146300 (3), Autosomal recessive, Autosomal dominant; Hypophosphatasia, infantile, 241500 (3), Autosomal recessive; Hypophosphatasia, childhood, 241510 (3), Autosomal recessive; Hypophosphatasia, adult, 146300 (3), Autosomal recessive, Autosomal dominant	Alpl (MGI:87983)
chr1	21596221	21669357	1p36.1-p35	1p36.12	600278	RAP1GA1	RAP1, GTPase activating protein 1	RAP1GAP	5909	ENSG00000076864			Rap1gap (MGI:109338)
chr1	21678298	21783149	1p36	1p36.12	617445	USP48, USP31, DFNA85	Ubiquitin-specific peptidase 48	USP48	84196	ENSG00000090686		Deafness, autosomal dominant 85, 620227 (3), Autosomal dominant	Usp48 (MGI:2158502)
chr1	21822244	21937310	1p36.1	1p36.12	142461	HSPG2, PLC, SJS, SJA, SJS1	Heparan sulfate proteoglycan of basement membrane (perlecan)	HSPG2	3339	ENSG00000142798		Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive	Hspg2 (MGI:96257)
chr1	21977022	21998642	1p36.12	1p36.12	618694	CELA3B	Chymotrypsin-like elastase 3A	CELA3B	23436	ENSG00000219073	distal to CELA3A		Cela3a,Cela3b (MGI:1915118,MGI:3651647)
chr1	22001657	22012542	1p36.12	1p36.12	618693	CELA3A	Chymotrypsin-like elastase 3A	CELA3A	10136	ENSG00000142789	proximal to CELA3B		Cela3a,Cela3b (MGI:1915118,MGI:3651647)
chr1	22052709	22101360	1p36.1	1p36.12	116952	CDC42, TKS	Cell division cycle 42 (GTP-binding protein, 25kD)	CDC42	998	ENSG00000070831		Takenouchi-Kosaki syndrome, 616737 (3), Autosomal dominant	Cdc42 (MGI:106211)
chr1	22117313	22143097	1p35	1p36.12	603490	WNT4, SERKAL	Wingless-type MMTV integration site family, member 4	WNT4	54361	ENSG00000162552	mutation identified in 1 SERKAL family	?SERKAL syndrome, 611812 (3), Autosomal recessive; Mullerian aplasia and hyperandrogenism, 158330 (3), Autosomal dominant	Wnt4 (MGI:98957)
chr1	22428909	22531154	1p36	1p36.12	612106	ZBTB40, KIAA0478	Zinc finger- and BTB domain-containing protein 40	ZBTB40	9923	ENSG00000184677			Zbtb40 (MGI:2682254)
chr1	22563489	22603595	1p36.12	1p36.12	176945	EPHA8, EEK, HEK3	Ephrin receptor EphA8 (eph- and elk-related kinase)	EPHA8	2046	ENSG00000070886			Epha8 (MGI:109378)
chr1	22636463	22639678	1p36.3-p34.1	1p36.12	120550	C1QA, C1QD1	Complement component 1, q subcomponent, A chain	C1QA	712	ENSG00000173372		C1q deficiency 1, 613652 (3), Autosomal recessive	C1qa (MGI:88223)
chr1	22643633	22648108	1p36.3-p34.1	1p36.12	120575	C1QC, C1QG, C1QD3	Complement component 1, q subcomponent, C chain	C1QC	714	ENSG00000159189		C1q deficiency 3, 620322 (3), Autosomal recessive	C1qc (MGI:88225)
chr1	22653236	22661637	1p36.3-p34.1	1p36.12	120570	C1QB, C1QD2	Complement component 1, q subcomponent, B chain	C1QB	713	ENSG00000173369		C1q deficiency 2, 620321 (3), Autosomal recessive	C1qb (MGI:88224)
chr1	22710838	22921500	1p36.1-p35	1p36.12	600997	EPHB2, EPHT3, DRT, ERK, PCBC, CAPB, BDPLT22	eph tyrosine kinase 3 (ephrin receptor EphB2)	EPHB2	2048	ENSG00000133216	mutation identified in 1 BDPLT22 family	?Bleeding disorder, platelet-type, 22, 618462 (3), Autosomal recessive; {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)	Ephb2 (MGI:99611)
chr1	23019468	23083689	1p36.12	1p36.12	609132	KDM1A, LSD1, AOF2, BHC110, KIAA0601, CPRF, AIMAH3	Lysine demethylase 1A	KDM1A	23028	ENSG00000004487		Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3), Autosomal dominant; {ACTH-independent macronodular adrenal hyperplasia 3}, 620990 (3), Autosomal dominant	Kdm1a (MGI:1196256)
chr1	23083642	23178122	1p36	1p36.12	601422	LUZP1	Leucine zipper protein 1	LUZP1	7798	ENSG00000169641			Luzp1 (MGI:107629)
chr1	23191895	23217502	1p36.3-p34.3	1p36.12	182133	HTR1D	5-hydroxytryptamine (serotonin) receptor-1D	HTR1D	3352	ENSG00000179546			Htr1d (MGI:96276)
chr1	23304688	23344284	1p36.11	1p36.12	607201	HNRPR, HNRNPR, NEDDFSB	Heterogeneous nuclear ribonucleoprotein R	HNRNPR	10236	ENSG00000125944		Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, 620073 (3), Autosomal dominant	Hnrnpr (MGI:1891692)
chr1	23359448	23369836	1p36	1p36.12	611703	ZNF436, KIAA1710	Zinc finger protein 436	ZNF436	80818	ENSG00000125945			Zfp46 (MGI:99192)
chr1	23380909	23424748	1p36.12	1p36.12	604128	TCEA3	Transcription elongation factor A, 3	TCEA3	6920	ENSG00000204219			Tcea3 (MGI:1196908)
chr1	23428563	23484631	1p36.13	1p36.12	616594	ASAP3, UPLC1, CENTB6, DDEFL1, ACAP4	ARF GTPase-activating protein with SH3 domain, ankyrin repeat, and PH domain 3	ASAP3	55616	ENSG00000088280			Asap3 (MGI:2684986)
chr1	23505212	23531233	1p36	1p36.12	600426	E2F2	E2F transcription factor 2	E2F2	1870	ENSG00000007968			E2f2 (MGI:1096341)
chr1	23557926	23559501	1p36.13-p36.12	1p36.12	600277	ID3	Inhibitor of DNA binding 3, dominant negative, helix-loop-helix protein	ID3	3399	ENSG00000117318			Id3 (MGI:96398)
chr1	23627334	23640568	1p36.1	1p36.11	607305	MDS2	Myelodysplasia syndrome gene 2	MDS2	259283	ENSG00000197880	fused with ETV6 in myelodysplastic syndrome		
chr1	23691779	23696835	1p36.1-p35	1p36.11	604175	RPL11, DBA7	Ribosomal protein L11	RPL11	6135	ENSG00000142676		Diamond-Blackfan anemia 7, 612562 (3), Autosomal dominant	Rpl11 (MGI:1914275)
chr1	23743471	23762059	1p36.1	1p36.11	600786	TCEB3	Transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)	ELOA	6924	ENSG00000011007			Eloa (MGI:1351315)
chr1	23778418	23788232	1p36.11	1p36.11	618784	PITHD1, C1orf128	PITH domain containing 1	PITHD1	57095	ENSG00000057757			Pithd1 (MGI:1913443)
chr1	23791145	23795539	1p36.11	1p36.11	616143	LYPLA2, APT2	Lysophospholipase II	LYPLA2	11313	ENSG00000011009			Lypla2 (MGI:1347000)
chr1	23795599	23800754	1p36-p35	1p36.11	606953	GALE, THC13	UDP galactose-4-epimerase	GALE	2582	ENSG00000117308		Thrombocytopenia 13, syndromic, 620776 (3), Autosomal recessive; Galactose epimerase deficiency, 230350 (3), Autosomal recessive	Gale (MGI:1921496)
chr1	23801885	23825429	1pter-p33	1p36.11	613898	HMGCL	3-hydroxy-3-methylglutaryl-Coenzyme A lyase	HMGCL	3155	ENSG00000117305		HMG-CoA lyase deficiency, 246450 (3), Autosomal recessive	Hmgcl (MGI:96158)
chr1	23845077	23868290	1p34	1p36.11	612280	FUCA1	Fucosidase, alpha-L- 1, tissue	FUCA1	2517	ENSG00000179163	8cM distal to RH; pseudogene on 2q31-q32	Fucosidosis, 230000 (3), Autosomal recessive	Fuca1 (MGI:95593)
chr1	23870515	23913362	1p36	1p36.11	605051	CNR2, CB2, CX5	Cannabinoid receptor 2	CNR2	1269	ENSG00000188822			Cnr2 (MGI:104650)
chr1	23959164	23963462	1p36.11	1p36.11	611882	PNRC2	Proline-rich nuclear receptor coactivator 2	PNRC2	55629	ENSG00000189266			Pnrc2 (MGI:106512)
chr1	23964347	23980327	1p36.1	1p36.11	605221	SRSF10, FUSIP1, TASR, TASR1, TASR2	Splicine factor, serine/arginine-rich, 10	SRSF10	10772	ENSG00000188529	pseudogenes on chr. 9, 12, 20		Srsf10 (MGI:1333805)
chr1	24056041	24112135	1p36.11	1p36.11	616832	MYOM3	Myomesin 3	MYOM3	127294	ENSG00000142661			Myom3 (MGI:2685280)
chr1	24119771	24143140	1p36.11	1p36.11	605457	IL22RA1, IL22R1	Interleukin 22 receptor, alpha-1	IL22RA1	58985	ENSG00000142677			Il22ra1 (MGI:2663588)
chr1	24154168	24187289	1p36.11	1p36.11	607404	IFNLR1, IL28RA	Interferon, lambda receptor 1	IFNLR1	163702	ENSG00000185436			Ifnlr1 (MGI:2429859)
chr1	24319357	24364482	1p36.11	1p36.11	608317	GRHL3, SOM, TFCP2L4, VWS2	Grainyhead-like 3	GRHL3	57822	ENSG00000158055		van der Woude syndrome 2, 606713 (3), Autosomal dominant	Grhl3 (MGI:2655333)
chr1	24356999	24415044	1p36.11	1p36.11	615826	STPG1, MAPO2, C1orf201	Sperm-tail PG-rich repeat-containing protein 1	STPG1	90529	ENSG00000001460			Stpg1 (MGI:1926056)
chr1	24413524	24472983	1p36.12-p35.1	1p36.11	620034	NIPAL3, NPAL3	NIPA-like domain-containing protein 3	NIPAL3	57185	ENSG00000001461			Nipal3 (MGI:1921802)
chr1	24502344	24541040	1p35.2-p33	1p36.11	605860	RCAN3, DSCR1L2, MCIP3	Regulator of calcineurin 3	RCAN3	11123	ENSG00000117602			Rcan3 (MGI:1858220)
chr1	24643302	24673281	1p36.11	1p36.11	605975	SRRM1, SRM160	Serine/arginine repetitive matrix 1 (ser/arg-related nuclear matrix protein, 160kD)	SRRM1	10250	ENSG00000133226			Srrm1 (MGI:1858303)
chr1	24745447	24844321	1p36.11	1p36.11	606536	CLIC4, MTCLIC	Chloride intracellular channel 4	CLIC4	25932	ENSG00000169504			Clic4 (MGI:1352754)
chr1	24899511	24965138	1p36	1p36.11	600210	RUNX3, CBFA3, PEBP2A3, AML2	Runt-related transcription factor 3	RUNX3	864	ENSG00000020633			Runx3 (MGI:102672)
chr1	25222276	25232502	1p36.11	1p36.11	607090	SYF2, P29	SYF2 pre-mRNA splicing factor	SYF2	25949	ENSG00000117614			Syf2 (MGI:1915842)
chr1	25242249	25338254	1p36.11	1p36.11	620030	RSRP1, C1orf63	Arginine- and serine-rich protein 1	RSRP1	57035	ENSG00000117616			Rsrp1 (MGI:106498)
chr1	25272486	25330445	1p36.2-p34	1p36.11	111680	RHD, HDFNRH	Rhesus system D polypeptide	RHD	6007	ENSG00000187010		{Hemolytic disease of fetus and newborn, RH-induced}, 619462 (3), Isolated cases; [Blood group, RH system], 111690 (3)	Rhd (MGI:1202882)
chr1	25338334	25362361	1p36.11	1p36.11	605348	TMEM50A, SMP1	Transmembrane protein 50A	TMEM50A	23585	ENSG00000183726	between RHD and RHCE		Tmem50a (MGI:1919067)
chr1	25362249	25430203	1p36.2-p34	1p36.11	111700	RHCE, RHNA	Rhesus system C and E polypeptides	RHCE	6006	ENSG00000188672		Rh-null disease, amorph type, 617970 (3), Autosomal recessive	Rhd (MGI:1202882)
chr1	25430897	25500209	1p36.11	1p36.11	610301	TMEM57, FLJ10747	Transmembrane protein 57	MACO1	55219	ENSG00000204178			Maco1 (MGI:1913396)
chr1	25543606	25590400	1p36-p35	1p36.11	605747	LDLRAP1, ARH, FHCB2, FHCB1, FHCL4	Low density lipoprotein receptor adaptor protein 1	LDLRAP1	26119	ENSG00000157978		Hypercholesterolemia, familial, 4, 603813 (3), Autosomal recessive	Ldlrap1 (MGI:2140175)
chr1	25616791	25784450	1p36.13-p35.1	1p36.11	616772	MAN1C1	Mannosidase, alpha, class 1C, member 1	MAN1C1	57134	ENSG00000117643			Man1c1 (MGI:2446214)
chr1	25800193	25818221	1p36-p35	1p36.11	606210	SELENON, SEPN1, SELN, CMYO3	Selenoprotein N	SELENON	57190	ENSG00000162430		Congenital myopathy 3 with rigid spine, 602771 (3), Autosomal recessive	Selenon (MGI:2151208)
chr1	25819954	25832938	1p36.11	1p36.11	620765	MTFR1L	Mitochondrial fission regulator 1-like protein	MTFR1L	56181	ENSG00000117640			Mtfr1l (MGI:1924074)
chr1	25831906	25859457	1p36.11	1p36.11	620397	AUNIP, AIBP, C1orf135	Aurora kinase A- and ninein-interacting protein	AUNIP	79000	ENSG00000127423			Aunip (MGI:1917135)
chr1	25861484	25875708	1p36.11	1p36.11	607779	PAQR7, MPRA, PGLP	Progestin and ADIPOQ receptor family, member 7	PAQR7	164091	ENSG00000182749			Paqr7 (MGI:1919154)
chr1	25884179	25906880	1p36.1-p35	1p36.11	151442	STMN1, LAP18, SMN	Stathmin	STMN1	3925	ENSG00000117632			Stmn1 (MGI:96739)
chr1	25959767	25998063	1p36.11	1p36.11	602344	PAFAH2	Platelet-activating factor acetylhydrolase 2	PAFAH2	5051	ENSG00000158006			Pafah2 (MGI:2140321)
chr1	26021775	26036464	1p36.1	1p36.11	601738	EXTL1	Exostosin-like 1	EXTL1	2134	ENSG00000158008			Extl1 (MGI:1888742)
chr1	26037252	26046118	1p36.11	1p36.11	609617	SLC30A2, ZNT2, TNZD	Solute carrier family 30 (zinc transporter), member 2	SLC30A2	7780	ENSG00000158014		Zinc deficiency, transient neonatal, 608118 (3), Autosomal dominant	Slc30a2 (MGI:106637)
chr1	26051301	26067630	1p36.11	1p36.11	606131	TRIM63, RNF28, SMRZ, MURF1	Tripartite motif containing 63	TRIM63	84676	ENSG00000158022			Trim63 (MGI:2447992)
chr1	26111162	26125555	1p35.3	1p36.11	610785	PDIK1L	PDLIM1-interacting kinase 1-like	PDIK1L	149420	ENSG00000175087			Pdik1l (MGI:2385213)
chr1	26169908	26170873	1p36.11	1p36.11	616698	ZNF593, ZT86	Zinc finger protein 593	ZNF593	51042	ENSG00000142684			Zfp593 (MGI:1915290)
chr1	26177491	26189884	1p36.11	1p36.11	603272	CNKSR1, CNK1	Connector enhancer of KSR 1	CNKSR1	10256	ENSG00000142675			Cnksr1 (MGI:2670958)
chr1	26190602	26202964	1p35.3	1p36.11	609121	CATSPER4	Cation channel, sperm-associated, 4	CATSPER4	378807	ENSG00000188782			Catsper4 (MGI:3043288)
chr1	26234200	26278808	1p36.11	1p36.11	618898	CEP85, CCDC21	Centrosomal protein, 85kD	CEP85	64793	ENSG00000130695			Cep85 (MGI:1917262)
chr1	26280086	26281522	1p36.11	1p36.11	615679	SH3BGRL3	SH3 domain-binding glutamic acid-rich protein-like protein 3	SH3BGRL3	83442	ENSG00000142669			Sh3bgrl3 (MGI:1920973)
chr1	26282282	26318355	1p36.11	1p36.11	609151	UBXN11, SOC	UBX domain protein 11	UBXN11	91544	ENSG00000158062			Ubxn11 (MGI:1914836)
chr1	26317958	26320523	1p36.11	1p36.11	114280	CD52, CDW52	CD52 molecule	CD52	1043	ENSG00000169442			Cd52 (MGI:1346088)
chr1	26321865	26354130	1p36.11	1p36.11	619765	CRYBG2, AIM1L	Crystallin beta-gamma domain-containing protein 2	CRYBG2	55057	ENSG00000176092			Crybg2 (MGI:1334463)
chr1	26361634	26374518	1p36.11	1p36.11	616775	ZNF683, HOBIT	Zinc finger protein 683	ZNF683	257101	ENSG00000176083			Zfp683 (MGI:3650254)
chr1	26410817	26429728	1p36.11	1p36.11	611043	LIN28A	lin-28 homolog A	LIN28A	79727	ENSG00000131914			Lin28a (MGI:1890546)
chr1	26432321	26471306	1p36.11	1p36.11	608172	DHDDS, HDS, RP59, DEDSM	Dehydrodolichyl diphosphate synthase	DHDDS	79947	ENSG00000117682	mutation identified in 1 CDG1BB patient	Developmental delay and seizures with or without movement abnormalities, 617836 (3), Autosomal dominant; ?Congenital disorder of glycosylation, type 1bb, 613861 (3), Autosomal recessive; Retinitis pigmentosa 59, 613861 (3), Autosomal recessive	Dhdds (MGI:1914672)
chr1	26472440	26476642	1p36.1	1p36.11	163910	HMGN2, HMG17	High-mobility group nucleosomal binding protein 2	HMGN2	3151	ENSG00000198830			Hmgn2,Hmgn2-ps (MGI:3704312,MGI:96136)
chr1	26529761	26575025	1p36.1	1p36.11	601684	RPS6KA1, RSK1	Ribosomal protein S6 kinase A1	RPS6KA1	6195	ENSG00000117676			Rps6ka1 (MGI:104558)
chr1	26696015	26782104	1p35.3	1p36.11	603024	ARID1A, C1orf4, B120, SMARCF1, MRD14, CSS2	AT rich interactive domain 1A, SWI-like	ARID1A	8289	ENSG00000117713		Coffin-Siris syndrome 2, 614607 (3), Autosomal dominant	Arid1a (MGI:1935147)
chr1	26787054	26800659	1p36.11	1p36.11	610274	PIGV, HPMRS1	Phosphatidylinositol glycan, class V	PIGV	55650	ENSG00000060642		Hyperphosphatasia with impaired intellectual development syndrome 1, 239300 (3), Autosomal recessive	Pigv (MGI:2442480)
chr1	26826688	26857604	1p36.11	1p36.11	620963	ZDHHC18, DHHC18	Zinc finger DHHC-type palmitoyltransferase 18	ZDHHC18	84243	ENSG00000204160			Zdhhc18 (MGI:3527792)
chr1	26863149	26864456	1p36.11	1p36.11	601290	SFN	Stratifin	SFN	2810	ENSG00000175793			Sfn (MGI:1891831)
chr1	26890488	26900467	1p36.11	1p36.11	617486	GPATCH3	G-patch domain-containing protein 3	GPATCH3	63906	ENSG00000198746			Gpatch3 (MGI:2442492)
chr1	26900161	26946871	1p36.11	1p36.11	610325	NUDC	Nuclear distribution C, dynein complex regulator	NUDC	10726	ENSG00000090273			Nudc (MGI:106014)
chr1	26911489	26913975	1p36.1	1p36.11	604630	NR0B2, SHP	Nuclear receptor subfamily 0, group B, member 2	NR0B2	8431	ENSG00000131910		Obesity, mild, early-onset, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant	Nr0b2 (MGI:1346344)
chr1	26949562	26960468	1p36	1p36.11	616758	KDF1, C1orf172, ECTD12	Keratinocyte differentiation factor 1	KDF1	126695	ENSG00000175707	mutation identified in 1 ECTD12 family	?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3), Autosomal dominant	Kdf1 (MGI:1916323)
chr1	26993692	27000886	1p36.11	1p36.11	616824	TRNP1	TMF1-regulated nuclear protein 1	TRNP1	388610	ENSG00000253368			Trnp1 (MGI:1916789)
chr1	27005020	27012850	1p36.11	1p36.11	619069	TENT5B, FAM46	Terminal nucleotidyltransferase 5B	TENT5B	115572	ENSG00000158246			Tent5b (MGI:2140500)
chr1	27098809	27155125	1p36.1-p35	1p36.11	107310	SLC9A1, NHE1, APNH, LIKNS	Solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive)	SLC9A1	6548	ENSG00000090020		Lichtenstein-Knorr syndrome, 616291 (3), Autosomal recessive	Slc9a1 (MGI:102462)
chr1	27234441	27308636	1p36.11	1p36.11	619763	WDTC1, ADP	WD and tetratricopeptide repeats protein 1	WDTC1	23038	ENSG00000142784			Wdtc1 (MGI:2685541)
chr1	27322163	27336400	1p36.11	1p36.11	619469	TMEM222, C1orf160, NEDMOSBA	Transmembrane protein 222	TMEM222	84065	ENSG00000186501		Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, 619470 (3), Autosomal recessive	Tmem222 (MGI:1098568)
chr1	27342022	27353932	1p36.11	1p36.11	608042	SYTL1, SLP1, JFC1	Synaptotagmin-like protein 1	SYTL1	84958	ENSG00000142765			Sytl1 (MGI:1933365)
chr1	27355184	27366961	1p36.11	1p36.11	604468	MAP3K6, MAPKKK6, ASK2	Mitogen-activated protein kinase kinase kinase 6	MAP3K6	9064	ENSG00000142733			Map3k6 (MGI:1855691)
chr1	27369110	27374824	1p36.11	1p36.11	604973	FCN3, HAKA1	Ficolin 3	FCN3	8547	ENSG00000142748		Immunodeficiency due to ficolin 3 deficiency, 613860 (3), Autosomal recessive	
chr1	27392622	27395814	1p36.1-p34.3	1p36.11	600241	GPR3	G protein-coupled receptor-3	GPR3	2827	ENSG00000181773			Gpr3 (MGI:101908)
chr1	27404230	27490167	1p36.11-p34.3	1p36.11	605875	WASF2, WAVE2, SCAR2	WAS protein family member 2	WASF2	10163	ENSG00000158195	?pseudogene on Xp11.21		Wasf2 (MGI:1098641)
chr1	27534245	27604227	1p36.11	1p36.11-p35.3	615790	AHDC1, XIGIS, MRD25	AT-hook DNA-binding motif-containing protein 1	AHDC1	27245	ENSG00000126705		Xia-Gibbs syndrome, 615829 (3), Autosomal dominant	Ahdc1 (MGI:2444218)
chr1	27600001	34300000	1p35		617930	C1DELp35, DEL1p35	Chromosome 1p35 deletion syndrome				SRO 1.03 Mb containing 23 genes	Chromosome 1p35 deletion syndrome, 617930 (4), Autosomal dominant	
chr1	27600001	34300000	1p35		132850	EBVS1	Epstein-Barr virus integration site		1888				
chr1	27612064	27635185	1p36.2-p36.1	1p35.3	164940	FGR, SRC2	Oncogene FGR	FGR	2268	ENSG00000000938	same as SRC2		Fgr (MGI:95527)
chr1	27666064	27672192	1p35	1p35.3	147572	G1P3, IFI616	Interferon, alpha-inducible protein (clone IFI-6-16)	IFI6	2537	ENSG00000126709			
chr1	27773219	27824443	1p35.3	1p35.3	606892	STX12, STX13	Syntaxin 12	STX12	23673	ENSG00000117758			Stx12 (MGI:1931027)
chr1	27830782	27851676	1p35	1p35.3	602636	PPP1R8, NIPP1, ARD1	Protein phosphatase-1, regulatory subunit-8	PPP1R8	5511	ENSG00000117751			Ppp1r8 (MGI:2140494)
chr1	27834401	27834566	1p35.3	1p35.3	620811	SCARNA1	Small cajal body-specific RNA 1	SCARNA1	677774	ENSG00000252947			
chr1	27872544	27886675	1p35.3	1p35.3	617856	THEMIS2, C1orf38, ICB1	Thymocyte selection-associated protein family, member 2	THEMIS2	9473	ENSG00000130775			Themis2 (MGI:2446213)
chr1	27891524	27914797	1p35	1p35.3	179836	RPA2	Replication protein A2, 32kD	RPA2	6118	ENSG00000117748			Rpa2 (MGI:1339939)
chr1	27935000	27959152	1p35.3	1p35.3	617737	SMPDL3B, ASML3B	Sphingolyelin phosphodiesterase, acid-like, 3B	SMPDL3B	27293	ENSG00000130768			Smpdl3b (MGI:1916022)
chr1	27959973	27968093	1p35.3	1p35.3	619940	XKR8	XK-related protein 8	XKR8	55113	ENSG00000158156			Xkr8 (MGI:2685877)
chr1	27970344	28088610	1p36	1p35.3	601655	EYA3	EYA transcriptional coactivator and phosphatase 3	EYA3	2140	ENSG00000158161			Eya3 (MGI:109339)
chr1	28147166	28193856	1p35-p34.3	1p35.3	173393	PTAFR	Platelet-activating factor receptor	PTAFR	5724	ENSG00000169403			Ptafr (MGI:106066)
chr1	28236124	28238100	1p35.3	1p35.3	614981	ATP1F1, IF1	ATPase inhibitory factor 1	ATP5IF1	93974	ENSG00000130770			Atp5if1 (MGI:1196457)
chr1	28259518	28282491	1p35.3	1p35.3	607767	SEST2, HI95	Sestrin 2	SESN2	83667	ENSG00000130766			Sesn2 (MGI:2651874)
chr1	28329040	28335965	1p35.3	1p35.3	612384	MED18	Mediator complex subunit 18	MED18	54797	ENSG00000130772			Med18 (MGI:1914469)
chr1	28369740	28500364	1p35.3	1p35.3	608726	PHACTR4	Phosphatase and actin regulator 4	PHACTR4	65979	ENSG00000204138			Phactr4 (MGI:2140327)
chr1	28505943	28510892	1p36.1	1p35.3	603238	RNU17D, U17HG	RNA, U17d small nucleolar	SNHG3	8420	ENSG00000242125			Snhg3 (MGI:2684817)
chr1	28506043	28538989	1p36.1	1p35.3	179710	CHC1, RCC1	Regulator of chromosome condensation	RCC1	1104	ENSG00000180198			Rcc1 (MGI:1913989)
chr1	28507365	28507571	1p36.1	1p35.3	180645	RNU17A, RNE1	RNA, U17a small nucleolar	SNORA73A	6080	ENSG00000274266	in IVS1 of CHC1		
chr1	28508558	28508762	1p36.1	1p35.3	603239	RNU17B	RNA, U17b small nucleolar	SNORA73B	26768	ENSG00000200087			
chr1	28553085	28578545	1p35.3	1p35.3	619597	TRNAU1AP	tRNA selenocysteine 1-associated protein 1	TRNAU1AP	54952	ENSG00000180098			Trnau1ap (MGI:1919037)
chr1	28602850	28648269	1p35.3	1p35.3	600773	TAF12	TAF12 RNA polymerase II, TATA box-binding protein-associated factor, 20kD	TAF12	6883	ENSG00000120656			Taf12 (MGI:1913714)
chr1	28668229	28719353	1p35.3	1p35.3	604409	GMEB1	Glucocorticoid modulatory element-binding protein 1	GMEB1	10691	ENSG00000162419			Gmeb1 (MGI:2135604)
chr1	28736624	28769775	1p35	1p35.3	610640	YTHDF2	YTH N6-methyladenosine RNA-binding protein 2	YTHDF2	51441	ENSG00000198492	fused with AML1 in t(1;21)		Ythdf2 (MGI:2444233)
chr1	28812170	28871267	1p36.1-p34.3	1p35.3	165195	OPRD1	Opioid receptor, delta-1	OPRD1	4985	ENSG00000116329			Oprd1 (MGI:97438)
chr1	28887100	29120041	1p36.2-p34	1p35.3	130500	EPB41, EL1	Erythrocyte surface protein band 4.1	EPB41	2035	ENSG00000159023		Elliptocytosis-1, 611804 (3), Autosomal recessive, Autosomal dominant	Epb41 (MGI:95401)
chr1	29147743	29181900	1p35.3	1p35.3	601940	SRSF4, SFRS4, SRp75	Splicing factor, serine/arginine-rich, 4	SRSF4	6429	ENSG00000116350			Srsf4 (MGI:1890577)
chr1	29167696	29230934	1p35.3	1p35.3	608205	MECR, NRBF1, DYTOABG, OPA16	Mitochondrial trans-2-enoyl-CoA reductase	MECR	51102	ENSG00000116353	mutation identified in 1 OPA16 family	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3), Autosomal recessive; Optic atrophy 16, 620629 (3), Autosomal recessive	Mecr (MGI:1349441)
chr1	29236522	29326800	1p35.3	1p35.3	602454	PTPRU, GLEPP1, PTPU2	Protein tyrosine phosphatase, receptor type, U	PTPRU	10076	ENSG00000060656			Ptpru (MGI:1321151)
chr1	30711277	30723585	1p35	1p35.2	115437	MATN1, CRTM, CMP	Matrilin 1, cartilage matrix protein	MATN1	4146	ENSG00000162510			Matn1 (MGI:106591)
chr1	30732469	30757774	1p34	1p35.2	601476	LAPTM5	Lysosomal-associated multispanning membrane protein-5	LAPTM5	7805	ENSG00000162511			Laptm5 (MGI:108046)
chr1	30869466	30909735	1pter-p22.3	1p35.2	186357	SDC3, SYND3, SDCN	Syndecan 3	SDC3	9672	ENSG00000162512		{Obesity, association with}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant	Sdc3 (MGI:1349163)
chr1	30931506	31065717	1p35.2	1p35.2	607204	PUM1, KIAA0099, SCA47, NEDMSF	Pumilio RNA binding family member 1	PUM1	9698	ENSG00000134644		Spinocerebellar ataxia 47, 617931 (3), Autosomal dominant; Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, 620719 (3), Autosomal dominant	Pum1 (MGI:1931749)
chr1	31179745	31239887	1p35.2	1p35.2	612871	NKAIN1	Na+/K+ transporting ATPase-interacting 1	NKAIN1	79570	ENSG00000084628			Nkain1 (MGI:1914399)
chr1	31259568	31296788	1p35.2	1p35.2	607797	SNRNP40, SPF38, PRPF8BP	Small nuclear ribonucleoprotein 40kDa (U5)	SNRNP40	9410	ENSG00000060688			Snrnp40 (MGI:1913835)
chr1	31297032	31364936	1p35.2	1p35.2	619744	ZCCHC17, PS1D	Zinc finger CCHC domain-containing protein 17	ZCCHC17	51538	ENSG00000121766			Zcchc17 (MGI:1919955)
chr1	31359588	31373076	1p33-p31	1p35.2	134651	FABP3	Fatty acid-binding protein 3, muscle	FABP3	2170	ENSG00000121769			Fabp3 (MGI:95476)
chr1	31409777	31434678	1p35.2	1p35.2	614549	SERINC2	Serine incorporator 2	SERINC2	347735	ENSG00000168528			Serinc2 (MGI:1919132)
chr1	31576515	31587686	1p35.2	1p35.2	616064	TINAGL1, TINAGRP	Tubulointerstitial nephritis antigen-like protein 1	TINAGL1	64129	ENSG00000142910			Tinagl1 (MGI:2137617)
chr1	31617689	31634492	1p35.2	1p35.2	602392	HCRTR1, OX1R	Hypocretin receptor 1	HCRTR1	3061	ENSG00000121764			Hcrtr1 (MGI:2385650)
chr1	31629866	31644876	1p34	1p35.2	610033	PEF1	Peflin	PEF1	553115	ENSG00000162517			Pef1 (MGI:1915148)
chr1	31652263	31704017	1p34	1p35.2	120326	COL16A1	Collagen XVI, alpha-1 polypeptide	COL16A1	1307	ENSG00000084636			Col16a1 (MGI:1095396)
chr1	31727117	31764340	1p35	1p35.2	602683	ADGRB2, BAI2	Adhesion G protein-coupled receptor B2	ADGRB2	576	ENSG00000121753			Adgrb2 (MGI:2451244)
chr1	31790422	31816022	1p35.2	1p35.2	619038	SPOCD1	SPOC domain-containing protein 1	SPOCD1	90853	ENSG00000134668			Spocd1 (MGI:3652045)
chr1	31906421	31938368	1p35	1p35.2	601584	PTP4A2, PTP4A, PRL2, HH13	Protein tyrosine phosphatase, type 4A, 2	PTP4A2	8073	ENSG00000184007			Ptp4a2 (MGI:1277117)
chr1	32013868	32060850	1p32	1p35.2	602489	KHDRBS1, SAM68	KH domain-containing, RNA-binding, signal transduction-associated protein 1	KHDRBS1	10657	ENSG00000121774			Khdrbs1 (MGI:893579)
chr1	32108056	32176563	1p35.1	1p35.2	610563	KPNA6	Karyopherin alpha-6	KPNA6	23633	ENSG00000025800			Kpna6 (MGI:1100836)
chr1	32179675	32198285	1p35.2	1p35.2	608676	TXLNA, IL14	Taxilin, alpha	TXLNA	200081	ENSG00000084652			Txlna (MGI:105968)
chr1	32196011	32205387	1p35.1	1p35.2	610162	CCDC28B, MGC1203	Coiled-coil domain-containing protein 28B	CCDC28B	79140	ENSG00000160050		{Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Digenic recessive, Autosomal recessive	Ccdc28b (MGI:1913514)
chr1	32214477	32222353	1p35.2	1p35.2	620289	TMEM234	Transmembrane protein 234	TMEM234	56063	ENSG00000160055			Tmem234 (MGI:1924049)
chr1	32222407	32236170	1p34.1	1p35.2	603911	EIF3I, EIF3S2, TRIP1	Eukaryotic translation initiation factor 3, subunit I	EIF3I	8668	ENSG00000084623	pseudogene on 7q32		Eif3i (MGI:1860763)
chr1	32251265	32286165	1p35-p34.3	1p35.2	153390	LCK, IMD22	Lymphocyte-specific protein tyrosine kinase	LCK	3932	ENSG00000182866	LCK/TCRB fusion in leukemia	Immunodeficiency 22, 615758 (3), Autosomal recessive	Lck (MGI:96756)
chr1	32292083	32333626	1p34.1	1p35.2-p35.1	601241	HDAC1, RPD3L1	Histone deacetylase-1	HDAC1	3065	ENSG00000116478			Hdac1 (MGI:108086)
chr1	32333839	32336233	1p34	1p35.1	602940	MARCKSL1, MLP, MRP	MARCKS-like protein 1	MARCKSL1	65108	ENSG00000175130			Marcksl1 (MGI:97143)
chr1	32362539	32364312	1p35-p34	1p35.1	607660	TSSK3, STK22C, STK22D	Testis-specific serine/threonine kinase 3	TSSK3	81629	ENSG00000162526			Tssk3 (MGI:1929914)
chr1	32364633	32394441	1p35.1	1p35.1	617518	BSDC1	BSD domain-containing protein 1	BSDC1	55108	ENSG00000160058			Bsdc1 (MGI:1913466)
chr1	32539427	32605941	1p35.1	1p35.1	618742	ZBTB8A, BOZF1	Zinc finger- and BTB domain-containing protein 8A	ZBTB8A	653121	ENSG00000160062			Zbtb8a (MGI:1920930)
chr1	32620820	32650932	1p35.1	1p35.1	615891	ZBTB8OS, ARCH	Zinc finger- and BTB domain-containing protein 8, opposite strand	ZBTB8OS	339487	ENSG00000176261			Zbtb8os (MGI:1914356)
chr1	32651208	32686211	1p35.1	1p35.1	602923	RBBP4, RBAP48	Retinoblastoma-binding protein 4	RBBP4	5928	ENSG00000162521			Rbbp4 (MGI:1194912)
chr1	32679906	32703593	1p34.3-p34.1	1p35.1	611750	SYNC1	Syncoilin 1	SYNC	81493	ENSG00000162520			Sync (MGI:1916078)
chr1	32775239	32817358	1p35	1p35.1	603623	YARS1, YARS, CMTDIC, TYRRS, YTS, YRS, IMNEPD2	Tyrosyl-tRNA synthetase 1	YARS1	8565	ENSG00000134684		Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, 619418 (3), Autosomal recessive; Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3), Autosomal dominant	Yars1 (MGI:2147627)
chr1	32816562	32858879	1p34.3	1p35.1	611889	S100PBP, S100PBPR	S100P-binding protein	S100PBP	64766	ENSG00000116497			S100pbp (MGI:1921898)
chr1	32862268	32872484	1p35.1	1p35.1	611906	FNDC5, FRCP2	Fibronectin type III domain-containing protein 5	FNDC5	252995	ENSG00000160097			Fndc5 (MGI:1917614)
chr1	32885996	32894646	1p35-p34.2	1p35.1	142622	HPCA, DYT2	Hippocalcin, 23kD, Ca2+-binding protein	HPCA	3208	ENSG00000121905		Dystonia 2, torsion, autosomal recessive, 224500 (3), Autosomal recessive	Hpca (MGI:1336200)
chr1	32929036	32964809	1p35.1	1p35.1	610872	IBRDC3, NKLAM	IBR domain-containing protein 3	RNF19B	127544	ENSG00000116514			Rnf19b (MGI:1922484)
chr1	33007940	33036883	1p34	1p35.1	103020	AK2	Adenylate kinase-2, mitochondrial	AK2	204	ENSG00000004455		Reticular dysgenesis, 267500 (3), Autosomal recessive	Ak2 (MGI:87978)
chr1	33081153	33166795	1p34.3-p33	1p35.1	608353	AZIN2, ODC1L, KIAA1945	Antizyme inhibitor 2	AZIN2	113451	ENSG00000142920			Azin2 (MGI:2442093)
chr1	33145399	33182043	1p35.1	1p35.1	616755	TRIM62, DEAR1	Tripartite motif-containing protein 62	TRIM62	55223	ENSG00000116525			Trim62 (MGI:1914775)
chr1	33306766	33321098	1p35.1	1p35.1	619850	A3GALT2, IGB3S	Alpha-1,3-galactosyltransferase 2	A3GALT2	127550	ENSG00000184389			A3galt2 (MGI:2685279)
chr1	33323626	33431095	1p35.1	1p35.1	602979	PHC2	Polyhomeotic homolog 2	PHC2	1912	ENSG00000134686			Phc2 (MGI:1860454)
chr1	33472645	33501643	1p35.1	1p35.1	611315	ZSCAN20, ZNF31, KOX29	Zinc finger- and SCAN domain-containing protein 20	ZSCAN20	7579	ENSG00000121903			Zscan20 (MGI:2679268)
chr1	33513998	34165842	1p35.3	1p35.1	608398	CSMD2, KIAA1884	Cub and Sushi multiple domains 2	CSMD2	114784	ENSG00000121904			Csmd2 (MGI:2386401)
chr1	33860475	33864791	1p35.1	1p35.1	617285	HMGB4	High mobility group box 4	HMGB4	127540	ENSG00000176256			Hmgb4 (MGI:1916567)
chr1	34300001	39600000	1p34.3		609919	GBD3	Gallbladder disease 3		100048906		new D2S255	Gallbladder disease 3, 609919 (2)	
chr1	34300001	60800000	1p34-p32		613545	MACST	Macrostomia		100529231		max lod at D1S2797	Macrostomia, 613545 (2)	
chr1	34755047	34758512	1p35.1	1p34.3	604493	GJB5, CX31.1	Gap junction protein, beta-5	GJB5	2709	ENSG00000189280			Gjb5 (MGI:95723)
chr1	34759740	34762327	1p35.1	1p34.3	605425	GJB4, CX30.3, EKVP2	Gap junction protein, beta-4	GJB4	127534	ENSG00000189433		Erythrokeratodermia variabilis et progressiva 2, 617524 (3), Autosomal dominant	Gjb4 (MGI:95722)
chr1	34781214	34786364	1p35.1	1p34.3	603324	GJB3, CX31, DFNA2B, EKVP1	Gap junction protein, beta-3	GJB3	2707	ENSG00000188910	same YAC as GJA4	Deafness, digenic, GJB2/GJB3, 220290 (3), Autosomal recessive, Digenic dominant; Erythrokeratodermia variabilis et progressiva 1, 133200 (3), Autosomal recessive, Autosomal dominant; Deafness, autosomal dominant 2B, with or without peripheral neuropathy, 612644 (3), Autosomal dominant	Gjb3 (MGI:95721)
chr1	34792999	34795747	1p35.1	1p34.3	121012	GJA4, CX37	Gap junction protein, alpha-4, 37kD (connexin 37)	GJA4	2701	ENSG00000187513			Gja4 (MGI:95715)
chr1	34865436	34929650	1p34.3	1p34.3	611413	DLGAP3, SPAPA3	Discs large-associated protein 3	DLGAP3	58512	ENSG00000116544			Dlgap3 (MGI:3039563)
chr1	34986165	35031945	14q12	1p34.3	613567	ZMYM6, ZNF258	Zinc finger, MYM-type 6	ZMYM6	9204	ENSG00000163867			Zmym6 (MGI:106505)
chr1	35176380	35193145	1p34	1p34.3	605199	SFPQ, PSF	Splicing factor, proline- and glutamine-rich	SFPQ	6421	ENSG00000116560	fusion gene with TFE3 in RCC		Sfpq (MGI:1918764)
chr1	35268709	35422058	1p34.3	1p34.3	613568	ZMYM4, ZNF262, KIAA0425	Zinc finger, MYM-type 4	ZMYM4	9202	ENSG00000146463			Zmym4 (MGI:1915035)
chr1	35433492	35557661	1p34.3	1p34.3	613535	KIAA0319L, KIAA1837	KIAA0319-like	KIAA0319L	79932	ENSG00000142687			AU040320 (MGI:2140475)
chr1	35557799	35566779	1p34.3	1p34.3	608458	NCDN, KIAA0607, NEDIES	Neurochondrin	NCDN	23154	ENSG00000020129		Neurodevelopmental disorder with infantile epileptic spasms, 619373 (3), Autosomal dominant	Ncdn (MGI:1347351)
chr1	35573314	35595591	1p34.3	1p34.3	614428	TFAP2E	Transcription factor AP2-epsilon	TFAP2E	339488	ENSG00000116819			Tfap2e (MGI:2679630)
chr1	35599541	35641526	1p34.2	1p34.3	602175	PSMB2	Proteasome subunit, beta type, 2	PSMB2	5690	ENSG00000126067			Psmb2 (MGI:1347045)
chr1	35720213	35769978	1p34.3-p34.1	1p34.3	605434	CLSPN	Claspin	CLSPN	63967	ENSG00000092853			Clspn (MGI:2445153)
chr1	35807636	35857890	1p34.3	1p34.3	607356	AGO4, EIF2C4, KIAA1567	Argonaute RISC component 4	AGO4	192670	ENSG00000134698			Ago4 (MGI:1924100)
chr1	35869761	35930532	1p35-p34	1p34.3	606228	AGO1, EIF2C1, GERP95, EIF2C, NEDLBAS	Argonaute RISC component 1	AGO1	26523	ENSG00000092847		Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, 620292 (3), Autosomal dominant	Ago1 (MGI:2446630)
chr1	35930718	36072500	1p35-p34	1p34.3	607355	AGO3, EIF2C3	Argonaute RISC component 3	AGO3	192669	ENSG00000126070			Ago3 (MGI:2446634)
chr1	36084094	36088275	1p34.3	1p34.3	608953	TEKT2, TEKTB1	Tektin 2	TEKT2	27285	ENSG00000092850			Tekt2 (MGI:1346335)
chr1	36088892	36093932	1p35.3-p34.1	1p34.3	610624	ADPRS, ADPRHL2, ARH3, CONDSIAS	ADP-ribosylserine hydrolase	ADPRS	54936	ENSG00000116863		Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (3), Autosomal recessive	Adprs (MGI:2140364)
chr1	36095239	36125222	1p34.3-p32.3	1p34.3	120252	COL8A2, FECD1, PPCD2	Collagen VIII, alpha-2 polypeptide	COL8A2	1296	ENSG00000171812		Corneal dystrophy, posterior polymorphous 2, 609140 (3), Autosomal dominant; Corneal dystrophy, Fuchs endothelial, 1, 136800 (3), Autosomal dominant	Col8a2 (MGI:88464)
chr1	36136572	36156053	1p34.3	1p34.3	610955	TRAPPC3, BET3	Trafficking protein particle complex, subunit 3	TRAPPC3	27095	ENSG00000054116			Trappc3 (MGI:1351486)
chr1	36207637	36305357	1p34.3	1p34.3	603809	THRAP3, TRAP150	Thyroid hormone receptor-associated protein 3	THRAP3	9967	ENSG00000054118			Thrap3 (MGI:2442637)
chr1	36339628	36385924	1p34.3	1p34.3	609437	STK40, SHIK	Serine/threonine protein kinase 40	STK40	83931	ENSG00000196182			Stk40 (MGI:1921428)
chr1	36393436	36397908	1p34.3	1p34.3	617909	LSM10	LSM10, U7 small nuclear RNA-associated protein	LSM10	84967	ENSG00000181817			Lsm10 (MGI:2151045)
chr1	36417906	36450451	1p34.2	1p34.3	608854	NOR1	Oxidored-nitro domain-containing protein 1	OSCP1	127700	ENSG00000116885			Oscp1 (MGI:1916308)
chr1	36455718	36464384	1p35-p34.1	1p34.3	611979	MRPS15	Mitochondrial ribosomal protein S15	MRPS15	64960	ENSG00000116898			Mrps15 (MGI:1913657)
chr1	36466043	36483314	1p35-p34.3	1p34.3	138971	CSF3R, GCSFR, SCN7	Colony-stimulating factor-3 receptor (granulocyte)	CSF3R	1441	ENSG00000119535	mutation identified in 1 HNTP family	Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3), Autosomal recessive; ?Neutrophilia, hereditary, 162830 (3), Autosomal dominant	Csf3r (MGI:1339755)
chr1	36795527	37034515	1p34-p33	1p34.3	138243	GRIK3, GLUR7	Glutamate receptor, ionotropic, kainate 3	GRIK3	2899	ENSG00000163873			Grik3 (MGI:95816)
chr1	37474580	37484377	1p35.3-p33	1p34.3	610562	ZC3H12A, MCPIP, MCPIP1	Zinc finger CCCH domain-containing protein 12A	ZC3H12A	80149	ENSG00000163874			Zc3h12a (MGI:2385891)
chr1	37489993	37514766	1p35.3-p33	1p34.3	611001	MEAF6, C1orf149, EAF6	MYST/ESA1-associated factor 6	MEAF6	64769	ENSG00000163875			Meaf6 (MGI:1917338)
chr1	37534449	37554293	1p34.3	1p34.3	608241	SNIP1, NEDHCS	SMAD nuclear interacting protein 1	SNIP1	79753	ENSG00000163877		Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures, 614501 (3), Autosomal recessive	Snip1 (MGI:2156003)
chr1	37556940	37566857	1p35.1	1p34.3	602135	DNALI1, P28, SPGF83	Dynein, axonemal, light intermediate polypeptide 1	DNALI1	7802	ENSG00000163879		Spermatogenic failure 83, 620354 (3), Autosomal recessive	Dnali1 (MGI:1922813)
chr1	37566816	37595937	1p34.3	1p34.3	609365	GNL2, NGP1	Guanine nucleotide-binding protein-like 2	GNL2	29889	ENSG00000134697			Gnl2 (MGI:2385207)
chr1	37611350	37634892	1p34.3	1p34.3	609595	RSPO1, FLJ40906	R-spondin 1	RSPO1	284654	ENSG00000169218		Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3), Autosomal recessive; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3), Autosomal recessive	Rspo1 (MGI:2183426)
chr1	37681570	37692242	1p34.3	1p34.3	614799	AIRIM, C1orf109	AFG2 interacting ribosome maturation factor	AIRIM	54955	ENSG00000116922			Airim (MGI:3041172)
chr1	37692516	37709719	1p34.3	1p34.3	609977	CDCA8	Cell division cycle-associated protein 8	CDCA8	55143	ENSG00000134690	possible pseudogene on chr.7		Cdca8 (MGI:1196274)
chr1	37713880	37765120	1p34.3	1p34.3	611123	EPHA10, DFNA88	Ephrin receptor EphA10	EPHA10	284656	ENSG00000183317	mutation identified in 1 DFNA88 family	?Deafness, autosomal dominant 88, 620283 (3), Autosomal dominant	Epha10 (MGI:3586824)
chr1	37793847	37801133	1p34.3	1p34.3	620919	MANEAL	Mannosidase, endo-alpha-like	MANEAL	149175	ENSG00000185090			Maneal (MGI:2684896)
chr1	37802945	37808208	1p34.2	1p34.3	612276	YRDC, IRIP, GAMOS10	YRDC domain-containing protein	YRDC	79693	ENSG00000196449		Galloway-Mowat syndrome 10, 619609 (3), Autosomal recessive	Yrdc (MGI:2387201)
chr1	37809574	37859592	1p33	1p34.3	600172	MTF1	Metal-regulatory transcription factor 1	MTF1	4520	ENSG00000188786			Mtf1 (MGI:101786)
chr1	37860697	37947057	1p34	1p34.3	147264	INPP5B	Inositol polyphosphate-5-phosphatase, 75kD	INPP5B	3633	ENSG00000204084			Inpp5b (MGI:103257)
chr1	37956975	37990022	1p34.3	1p34.3	605596	SF3A3, SF3A60, SAP61, PRP9	Splicing factor 3A, subunit 3	SF3A3	10946	ENSG00000183431			Sf3a3 (MGI:1922312)
chr1	37996770	38005514	1p34	1p34.3	602790	FHL3, SLIM2	Four-and-a-half LIM domains-3	FHL3	2275	ENSG00000183386			Fhl3 (MGI:1341092)
chr1	38012734	38024820	1p34.3	1p34.3	609440	UTP11L, CGI94	UTP11-like protein	UTP11	51118	ENSG00000183520			Utp11 (MGI:1914455)
chr1	38043829	38046793	1p34.1	1p34.3	602479	POU3F1	POU domain, class 3, transcription factor-1	POU3F1	5453	ENSG00000185668			Pou3f1 (MGI:101896)
chr1	38838198	38859772	1p34	1p34.3	608267	RRAGC, RAGC, LNGODS	RAS-related GTP-binding protein C	RRAGC	64121	ENSG00000116954		Long-Olsen-Distelmaier syndrome, 620609 (3), Autosomal dominant	Rragc (MGI:1858751)
chr1	38862490	38873378	1p33-p32.2	1p34.3	606535	MYCBP	MYC-binding protein	MYCBP	26292	ENSG00000214114			Mycbp (MGI:1891750)
chr1	38874069	38881587	1p34.3	1p34.3	611923	GJA9, CX59	Gap junction protein, alpha-9	GJA9	81025	ENSG00000131233			
chr1	38885807	38941830	1p34.3	1p34.3	608962	RHBDL2	Rhomboid-like 2	RHBDL2	54933	ENSG00000158315			Rhbdl2 (MGI:3608413)
chr1	38991276	39006059	1p34.3	1p34.3	615164	AKIRIN1	Akirin 1	AKIRIN1	79647	ENSG00000174574			Akirin1 (MGI:1915300)
chr1	39026350	39034615	1p34.2-p33	1p34.3	603847	NDUFS5	NADH-ubiquinone oxidoreductase subunit S5	NDUFS5	4725	ENSG00000168653			Ndufs5 (MGI:1890889)
chr1	39084167	39487138	1p32-p31	1p34.3	608271	MACF1, ACF7, KIAA1251, LIS9	Microtubule-actin cross-linking factor 1	MACF1	23499	ENSG00000127603		Lissencephaly 9 with complex brainstem malformation, 618325 (3), Autosomal dominant	Macf1 (MGI:108559)
chr1	39491636	39529869	1p34.3	1p34.3	620847	BMP8A	Bone morphogenetic protein 8A	BMP8A	353500	ENSG00000183682			Bmp8a (MGI:104515)
chr1	39560816	39576790	1p36-p32	1p34.3	603407	PABPC4, PABP4, IPABP, APP1	Polyadenylate-binding protein, cytoplasmic, 4	PABPC4	8761	ENSG00000090621			Pabpc4 (MGI:2385206)
chr1	39623435	39639643	1p34.3	1p34.2	609034	HEYL	HES-related bHLH transcription factor with YRPW motif-like protein	HEYL	26508	ENSG00000163909			Heyl (MGI:1860511)
chr1	39651229	39672107	1p34.3-p33	1p34.2	610525	NT5C1A, CN1A, CNI, CN1	5'-nucleotidase, cytosolic, IA	NT5C1A	84618	ENSG00000116981			Nt5c1a (MGI:2155700)
chr1	39678648	39691433	1p34.2	1p34.2	619211	HPCAL4, HLP4	Hippocalcin-like 4	HPCAL4	51440	ENSG00000116983			Hpcal4 (MGI:2157521)
chr1	39738882	39763914	1p34.2	1p34.2	602435	PPIE, CYP33	Peptidyl-prolyl isomerase E	PPIE	10450	ENSG00000084072			Ppie (MGI:1917118)
chr1	39757182	39788865	1p34.2	1p34.2	602284	BMP8B, OP2	Bone morphogenetic protein-8b (osteogenic protein 2)	BMP8B	656	ENSG00000116985			Bmp8a,Bmp8b (MGI:104515,MGI:107335)
chr1	39769523	39771348	1p34.2	1p34.2	610289	OXCT2, FLJ0030	3-oxoacid CoA transferase 2	OXCT2	64064	ENSG00000198754			Oxct2a,Oxct2b (MGI:1891061,MGI:2664115)
chr1	39838110	39883511	1p34.2	1p34.2	617840	TRIT1, IPT, COXPD35	tRNA isopentenyltransferase 1	TRIT1	54802	ENSG00000043514		Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive	Trit1 (MGI:1914216)
chr1	39895428	39901917	1p34.3	1p34.2	164850	MYCL, LMYC	MYCL protooncogene, bHLH transcription factor	MYCL	4610	ENSG00000116990			Mycl (MGI:96799)
chr1	39955145	39969956	1p34.2	1p34.2	614397	MFSD2A, NEDMISBA	Major facilitator superfamily domain-containing protein 2A	MFSD2A	84879	ENSG00000168389		Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities, 616486 (3), Autosomal recessive	Mfsd2a (MGI:1923824)
chr1	40040240	40072648	1p34.2	1p34.2	617801	CAP1	Cyclase-associated actin cytoskeleton regulatory protein 1	CAP1	10487	ENSG00000131236			Cap1 (MGI:88262)
chr1	40071461	40097252	1p32	1p34.2	600722	PPT1, CLN1	Palmitoyl-protein thioesterase 1	PPT1	5538	ENSG00000131238		Ceroid lipofuscinosis, neuronal, 1, 256730 (3), Autosomal recessive	Ppt1 (MGI:1298204)
chr1	40161387	40240921	1p32	1p34.2	180610	RLF	Rearranged L-myc fusion sequence	RLF	6018	ENSG00000117000	<800kb from MYCL1		Rlf (MGI:1924705)
chr1	40258236	40294180	1p34	1p34.2	606480	ZMPSTE24, FACE1, STE24, MADB, RSDM1	Zinc metalloproteinase STE24	ZMPSTE24	10269	ENSG00000084073		Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3), Autosomal recessive; Restrictive dermopathy 1, 275210 (3), Autosomal recessive	Zmpste24 (MGI:1890508)
chr1	40300489	40317286	1p34.2	1p34.2	120260	COL9A2, EDM2, STL5	Collagen IX, alpha-2 polypeptide	COL9A2	1298	ENSG00000049089	mutation identified in1 STL5 family	Epiphyseal dysplasia, multiple, 2, 600204 (3), Autosomal dominant; ?Stickler syndrome, type V, 614284 (3), Autosomal recessive	Col9a2 (MGI:88466)
chr1	40344834	40423326	1p34.2	1p34.2	616916	SMAP2, SMAP1L	Small ADP-ribosylation factor GTPase-activating protein 2	SMAP2	64744	ENSG00000084070			Smap2 (MGI:1917030)
chr1	40477290	40496343	1p34.2	1p34.2	617939	ZFP69, ZNF642	Zinc finger protein 69	ZFP69	339559	ENSG00000187815			Zfp69 (MGI:107794)
chr1	40508767	40516038	1p34.2	1p34.2	618601	EXO5, C1orf176	Exonuclease 5	EXO5	64789	ENSG00000164002			Exo5 (MGI:1920422)
chr1	40620680	40692066	1p34.1	1p34.2	611600	RIMS3, NIM3, KIAA0137	Protein regulating synaptic membrane exocytosis 3	RIMS3	9783	ENSG00000117016			Rims3 (MGI:2443331)
chr1	40691704	40771603	1p32	1p34.2	605344	NFYC, CBFC	Nuclear transcription factor Y, gamma	NFYC	4802	ENSG00000066136			Nfyc (MGI:107901)
chr1	40754355	40754446	1p34.2	1p34.2	619105	MIR30E, MIR30E*	Micro RNA 30E	MIR30E	407034	ENSG00000198974			Mir30e (MGI:3619329)
chr1	40757284	40757372	1p34.2	1p34.2	615151	MIR30C1	Micro RNA 30C-1	MIR30C1	407031	ENSG00000207962			Mir30c-1 (MGI:2676909)
chr1	40783787	40840452	1p34	1p34.2	603537	KCNQ4, DFNA2A	Potassium voltage-gated channel, KQT-like subfamily, member 4	KCNQ4	9132	ENSG00000117013		Deafness, autosomal dominant 2A, 600101 (3), Autosomal dominant	Kcnq4 (MGI:1926803)
chr1	40861054	40862363	1p35-p34	1p34.2	606815	CITED4	CBP/P300-interacting transactivator, with glu/asp-rich carboxy terminal domain, 4	CITED4	163732	ENSG00000179862			Cited4 (MGI:1861694)
chr1	40979696	41012565	1p34.1	1p34.2	123860	CTPS1, CTPS, IMD24	Cytidine 5'-triphosphate synthetase 1	CTPS1	1503	ENSG00000171793		Immunodeficiency 24, 615897 (3), Autosomal recessive	Ctps1 (MGI:1858304)
chr1	41027202	41242306	1p34	1p34.2	616396	SCMH1	Scm polycomb group protein homolog 1	SCMH1	22955	ENSG00000010803			Scmh1 (MGI:1352762)
chr1	41361434	41383590	1p34.1	1p34.2	611457	FOXO6	Forkhead box O6	FOXO6	100132074	ENSG00000204060			Foxo6 (MGI:2676586)
chr1	41478775	41484683	1p34	1p34.2	131241	EDN2	Endothelin-2	EDN2	1907	ENSG00000127129	vasoactive intestinal contractor (VIC) = mouse and rat equivalent		Edn2 (MGI:95284)
chr1	41506365	42035934	1p34	1p34.2	606649	HIVEP3, KRC	Human immunodeficiency virus type 1 enhancer-binding protein 3	HIVEP3	59269	ENSG00000127124			Hivep3 (MGI:106589)
chr1	42153410	42155820	1p34-p33	1p34.2	601271	GUCA2B, UGN	Guanylate cyclase activator 2B (uroguanylin)	GUCA2B	2981	ENSG00000044012			Guca2b (MGI:1270851)
chr1	42162690	42164745	1p35-p34	1p34.2	139392	GUCA2A, GUCA2	Guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable)	GUCA2A	2980	ENSG00000197273			Guca2a (MGI:102738)
chr1	42176548	42335880	1p34.2	1p34.2	616035	FOXJ3, KIAA1041	Forkhead box J3	FOXJ3	22887	ENSG00000198815			Foxj3 (MGI:2443432)
chr1	42380792	42424232	1p34.2	1p34.2	618949	RIMKLA, NAAGS2	Ribosomal modification protein RimK-like family, member A	RIMKLA	284716	ENSG00000177181			Rimkla (MGI:3040686)
chr1	42456341	42473417	1p13.1-p12	1p34.2	609853	PPCS, CMD2C	Phosphopantothenoylcysteine synthetase	PPCS	79717	ENSG00000127125		Cardiomyopathy, dilated, 2C, 618189 (3), Autosomal recessive	Ppcs (MGI:1915237)
chr1	42658423	42681654	1p34.1	1p34.2	606095	PPIH	Peptidyl-prolyl isomerase H	PPIH	10465	ENSG00000171960			Ppih,Ppihl (MGI:106499,MGI:3645078)
chr1	42682418	42703805	1p34	1p34.2	154030	YBX1, NSEP1, YB1, DBPB	Y box binding protein 1 (major histocompatibility complex, class II, Y box-binding protein I)	YBX1	4904	ENSG00000065978			Ybx1 (MGI:99146)
chr1	42733093	42740236	1p34.2	1p34.2	610036	CLDN19, HOMG5	Claudin 19	CLDN19	149461	ENSG00000164007		Hypomagnesemia 5, renal, with ocular involvement, 248190 (3), Autosomal recessive	Cldn19 (MGI:3033992)
chr1	42746374	42767028	1p34	1p34.2	610339	P3H1, LEPRE1, GROS1, OI8	Prolyl 3-hydroxylase 1	P3H1	64175	ENSG00000117385		Osteogenesis imperfecta, type VIII, 610915 (3), Autosomal recessive	P3h1 (MGI:1888921)
chr1	42807052	42817397	1p34.2	1p34.2	617853	SVBP, CCDC23, NEDAHM	Small vasohibin-binding protein	SVBP	374969	ENSG00000177868		Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 (3), Autosomal recessive	Svbp (MGI:1916466)
chr1	42817122	42844991	1p34	1p34.2	609017	ERMAP, SC, RD	Erythroblast membrane-associated protein	ERMAP	114625	ENSG00000164010		[Blood group, Scianna system], 111750 (3); [Blood group, Radin], 111620 (3)	Ermap (MGI:1349816)
chr1	42925353	42958868	1p34.2	1p34.2	138140	SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN	Solute carrier family 2 (facilitated glucose transporter), member 1	SLC2A1	6513	ENSG00000117394	probably in 1p33	Dystonia 9, 601042 (3), Autosomal dominant; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3), Autosomal recessive, Autosomal dominant; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3), Autosomal dominant; GLUT1 deficiency syndrome 2, childhood onset, 612126 (3), Autosomal dominant	Slc2a1 (MGI:95755)
chr1	43142962	43156396	1p34.2	1p34.2	621114	CFAP144, FAM183A	Cilia- and flagella-associated protein 144	CFAP144	440585	ENSG00000186973			
chr1	43164174	43172570	1p35-p33	1p34.2	614443	EBNA1BP2, EBP2	EBNA1-binding protein 2	EBNA1BP2	10969	ENSG00000117395			Ebna1bp2 (MGI:1916322)
chr1	43172330	43254358	1p34.2	1p34.2	614259	CFAP57, WDR65, SPGF95	Cilia- and flagella-associated protein 57	CFAP57	149465	ENSG00000243710		Spermatogenic failure 95, 620917 (3), Autosomal recessive	Cfap57 (MGI:2686209)
chr1	43281877	43285857	1p34.2	1p34.2	620582	C1orf210, TEMP	Chromosome 1 open reading frame 210	C1orf210	149466	ENSG00000253313			2610528J11Rik (MGI:1913701)
chr1	43300982	43323108	1p34-p33	1p34.2	600222	TIE, JTK14, TIE1, LMPHM11	Tyrosine kinase with immunoglobulin and epidermal growth factor homology domains	TIE1	7075	ENSG00000066056		Lymphatic malformation 11, 619401 (3), Autosomal dominant	Tie1 (MGI:99906)
chr1	43337818	43354466	1p34	1p34.2	159530	MPL, TPOR, MPLV, THCYT2	MPL protooncogene, thrombopoietin receptor	MPL	4352	ENSG00000117400		Myelofibrosis with myeloid metaplasia, somatic, 254450 (3); Amegakaryocytic thrombocytopenia, congenital, 1, 604498 (3), Autosomal recessive; Thrombocythemia 2, 601977 (3), Somatic mutation, Autosomal dominant	Mpl (MGI:97076)
chr1	43358981	43363203	1p34.2-p33	1p34.2	603618	CDC20, OZEMA14	Cell division cycle 20	CDC20	991	ENSG00000117399	pseudogene on 9q13-q21	Oocyte/zygote/embryo maturation arrest 14, 620276 (3), Autosomal recessive	Cdc20 (MGI:1859866)
chr1	43363401	43368011	1p34.2	1p34.2	611813	ELOVL1, SSC1, IKSHD	Elongation of very long chain fatty acids-like 1	ELOVL1	64834	ENSG00000066322		Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 (3), Autosomal recessive, Autosomal dominant	Elovl1 (MGI:1858959)
chr1	43383917	43389800	1p34.2	1p34.2	607956	MED8	Mediator complex subunit 8	MED8	112950	ENSG00000159479			Med8 (MGI:1915269)
chr1	43389899	43454247	1p34.2	1p34.2	615463	SZT2, KIAA0467, DEE18	SZT2 subunit of KICSTOR complex	SZT2	23334	ENSG00000198198		Developmental and epileptic encephalopathy 18, 615476 (3), Autosomal recessive	Szt2 (MGI:3033336)
chr1	43450607	43453931	1p34.2	1p34.2	619128	HYI	Hydroxypyruvate isomerase	HYI	81888	ENSG00000178922			Hyi (MGI:1915430)
chr1	43522051	43623666	1p32	1p34.2	179590	PTPRF, LAR, BNAH2	Protein tyrosine phosphatase, receptor type, f polypeptide	PTPRF	5792	ENSG00000142949	mutation identified in 1 BNAH2 family	?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3), Autosomal recessive	Ptprf (MGI:102695)
chr1	43650149	43705518	1p34.1	1p34.2-p34.1	609764	KDM4A, JMJD2A, JHDM3A, KIAA0677	Lysine demethylase 4A	KDM4A	9682	ENSG00000066135			Kdm4a (MGI:2446210)
chr1	43700001	60800000	1p34.1-p32		178300	PTOS1	Ptosis, congenital 1, autosomal dominant		5765			Ptosis, hereditary congenital, 1, 178300 (2), Autosomal dominant	
chr1	43707536	43931159	1p34.1	1p34.1	606494	ST3GAL3, SIAT6, ST3GALII, MRT12, DEE15	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	ST3GAL3	6487	ENSG00000126091		Developmental and epileptic encephalopathy 15, 615006 (3), Autosomal recessive; Intellectual developmental disorder, autosomal recessive 12, 611090 (3), Autosomal recessive	St3gal3 (MGI:1316659)
chr1	43933801	43937240	1p34.1	1p34.1	603886	ARTN	Artemin	ARTN	9048	ENSG00000117407			Artn (MGI:1333791)
chr1	43946950	43968022	1p34.1	1p34.1	610411	IPO13, IMP13, KIAA0724, RANBP13	Importin 13	IPO13	9670	ENSG00000117408			Ipo13 (MGI:2385205)
chr1	43970010	43973369	1p34	1p34.1	603456	DPH2, DPH2L2, DEDSSH2	Diphthamide biosynthesis protein 2	DPH2	1802	ENSG00000132768		Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, 620062 (3), Autosomal recessive	Dph2 (MGI:1914978)
chr1	43974960	43978295	1p32.3	1p34.1	603717	ATP6V0B, ATP6F	ATPase, H+ transporting, V0 subunit b	ATP6V0B	533	ENSG00000117410			Atp6v0b (MGI:1890510)
chr1	43979210	43991171	1p33-p32	1p34.1	604013	B4GALT2	Beta-1,4-galactosyltransferase 2	B4GALT2	8704	ENSG00000117411			B4galt2 (MGI:1858493)
chr1	43996483	44031462	1p33	1p34.1	601019	SLC6A9, GLYT1, GCENSG	Solute carrier family 6 (neurotransmitter transporter, glycine), member 9	SLC6A9	6536	ENSG00000196517		Glycine encephalopathy with normal serum glycine, 617301 (3), Autosomal recessive	Slc6a9 (MGI:95760)
chr1	44043927	44135140	1p34.1	1p34.1	609602	KLF717, ZLF393	Kruppel-like factor 17	KLF17	128209	ENSG00000171872			Klf17 (MGI:2181068)
chr1	44137821	44141631	1p34.1	1p34.1	621009	KLF18	KLF transcription factor 18	KLF18	105378952	ENSG00000283039			Klf18 (MGI:3651666)
chr1	44213471	44220673	1p34.1	1p34.1	605077	DNMAP1, DMAP1	DNMT1-associated protein 1	DMAP1	55929	ENSG00000178028			Dmap1 (MGI:1913483)
chr1	44221070	44355279	1p32	1p34.1	609917	PRNPIP, PINT1	Prion protein-interacting protein	ERI3	79033	ENSG00000117419			Eri3 (MGI:2153887)
chr1	44404783	44651724	1p34.1	1p34.1	616136	RNF220, HLD23	RING finger protein 220	RNF220	55182	ENSG00000187147		Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, 619688 (3), Autosomal recessive	Rnf220 (MGI:1913993)
chr1	44653247	44674481	1p34.1	1p34.1	619722	TMEM53, NET4, CTDI	Transmembrane protein 53	TMEM53	79639	ENSG00000126106		Craniotubular dysplasia, Ikegawa type, 619727 (3), Autosomal recessive	Tmem53 (MGI:1916027)
chr1	44721786	44721901	1p34.1	1p34.1	620363	RNU5F-1, RNU5F	RNA, U5F small nuclear 1	RNU5F-1	26828	ENSG00000199377			
chr1	44731069	44731168	1p34.1	1p34.1	620361	RNU5D-1, RNU5D	RNA, U5D small nuclear 1	RNU5D-1	26830	ENSG00000200169			
chr1	44739837	44767767	1p34.1	1p34.1	604538	KIF2C, KNSL6, MCAK	Kinesin family, member 2C	KIF2C	11004	ENSG00000142945			Kif2c (MGI:1921054)
chr1	44775540	44778779	1p34.1-p32	1p34.1	600357	RPS8	Ribosomal protein S8	RPS8	6202	ENSG00000142937			Rps8 (MGI:98166)
chr1	44781840	44792828	1p33-p32.3	1p34.1	607336	BEST4, VMD2L2	Bestrophin 4	BEST4	266675	ENSG00000142959			
chr1	44800377	44805990	1p34.1	1p34.1	602913	PLK3, CNK, PRK	Polo-like kinase 3	PLK3	1263	ENSG00000173846	previously assigned to 8p21 by FISH		Plk3 (MGI:109604)
chr1	44805893	44807351	1p34.1	1p34.1	611713	DYNLT4, TCTEX1D4	Dynein light chain Tctex-type 4	DYNLT4	343521	ENSG00000188396			Dynlt4 (MGI:3045358)
chr1	44819845	44843253	1p32	1p34.1	603673	PTCH2	Patched 2	PTCH2	8643	ENSG00000117425		Medulloblastoma, somatic, 155255 (3); Basal cell carcinoma, somatic, 605462 (3)	Ptch2 (MGI:1095405)
chr1	44850522	44986595	1p34.1	1p34.1	606273	EIF2B3, VWM3	Eukaryotic translation initiation factor 2B, subunit 3	EIF2B3	8891	ENSG00000070785		Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure, 620313 (3), Autosomal recessive	Eif2b3 (MGI:1313286)
chr1	45002548	45011324	1p34.1	1p34.1	618638	HECTD3	HECT domain-containing E3 ubiquitin protein ligase 3	HECTD3	79654	ENSG00000126107			Hectd3 (MGI:1923858)
chr1	45012254	45015575	1p34	1p34.1	613521	UROD	Uroporphyrinogen decarboxylase	UROD	7389	ENSG00000126088		Porphyria, hepatoerythropoietic, 176100 (3), Autosomal recessive, Autosomal dominant; Porphyria cutanea tarda, 176100 (3), Autosomal recessive, Autosomal dominant	Urod (MGI:98916)
chr1	45016399	45206605	1p34.1	1p34.1	620132	ZSWIM5, KIAA1511	Zinc finger SWIM domain-containing protein 5	ZSWIM5	57643	ENSG00000162415			Zswim5 (MGI:1921714)
chr1	45326895	45328710	1p34.1	1p34.1	618994	HPDL, NEDSWMA, SPG83	4-hydroxyphenylpyruvate dioxygenase-like	HPDL	84842	ENSG00000186603		Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, 619026 (3), Autosomal recessive; Spastic paraplegia 83, autosomal recessive, 619027 (3), Autosomal recessive	Hpdl (MGI:2444646)
chr1	45329242	45340440	1p34.3-p32.1	1p34.1	604933	MUTYH, MYH	mutY DNA glycosylase	MUTYH	4595	ENSG00000132781		Adenomas, multiple colorectal, 608456 (3), Autosomal recessive; Gastric cancer, somatic, 613659 (3)	Mutyh (MGI:1917853)
chr1	45340170	45343973	1p34.1	1p34.1	613931	TOE1, PCH7	Target of EGR1	TOE1	114034	ENSG00000132773		Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive	Toe1 (MGI:1915526)
chr1	45343883	45491163	1p32	1p34.1	604746	TESK2	Testis-associated actin-modeling kinase 2	TESK2	10420	ENSG00000070759			Tesk2 (MGI:2385204)
chr1	45500300	45513382	1p34.1	1p34.1	609831	MMACHC	Metabolism of cobalamin associated C	MMACHC	25974	ENSG00000132763		Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3), Autosomal recessive	Mmachc (MGI:1914346)
chr1	45511051	45522890	1p34.1	1p34.1	176763	PRDX1, PRXI, PAGA, NKEFA	Peroxiredoxin 1	PRDX1	5052	ENSG00000117450	pseudogene PAGB on 9p22	Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3), Autosomal recessive	Prdx1 (MGI:99523)
chr1	45550826	45570049	1p33-p32	1p34.1	103830	AKR1A1, ALR	Aldo-keto reductase family 1, member A1 (aldehyde reductase)	AKR1A1	10327	ENSG00000117448			Akr1a1 (MGI:1929955)
chr1	45584041	45618893	1p34.1	1p34.1	603185	NASP	Nuclear autoantigenic sperm protein	NASP	4678	ENSG00000132780			Nasp (MGI:1355328)
chr1	45694324	45750653	1p32-p22	1p34.1	147485	IPP	Intracisternal A particle-promoted polypeptide	IPP	3652	ENSG00000197429			Ipp (MGI:96581)
chr1	45803612	46036122	1p34.1	1p34.1	612257	MAST2, MAST205, KIAA0807	Microtubule-associated serine/threonine kinase 2	MAST2	23139	ENSG00000086015			Mast2 (MGI:894676)
chr1	46040140	46174901	1p34.2	1p34.1	606076	PIK3R3	Phosphatidylinositol 3-kinase, regulatory, 3	PIK3R3	8503	ENSG00000117461			Pik3r3 (MGI:109277)
chr1	46175087	46196489	1p34.1	1p34.1	613170	TSPAN1, NET1	Tetraspanin 1	TSPAN1	10103	ENSG00000117472			Tspan1 (MGI:1914055)
chr1	46188683	46220305	1p34-p33	1p34.1	606822	POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76, LGMDR15	Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase	POMGNT1	55624	ENSG00000085998		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, 613151 (3), Autosomal recessive; Retinitis pigmentosa 76, 617123 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3), Autosomal recessive	Pomgnt1 (MGI:1915523)
chr1	46203334	46221256	1p34.1	1p34.1	616129	LURAP1, LRAP35A	Leucine-rich adaptor protein 1	LURAP1	541468	ENSG00000171357			Lurap1 (MGI:1915325)
chr1	46247688	46278473	1p32	1p34.1	603615	RAD54L, HR54, HRAD54	RAD54 like	RAD54L	8438	ENSG00000085999		{Breast cancer, invasive ductal}, 114480 (3), Somatic mutation, Autosomal dominant; Adenocarcinoma, colonic, somatic (3); Lymphoma, non-Hodgkin, somatic, 605027 (3)	Rad54l (MGI:894697)
chr1	46277462	46303616	1p34.1-p33	1p34.1-p33	618753	LRRC41, MUF1	Leucine-rich repeat-containing protein 41	LRRC41	10489	ENSG00000132128			Lrrc41 (MGI:2441984)
chr1	46300001	60800000	1p33-p32		612728	BMND14	Bone mineral density quantitative trait locus 14		100294718		associated with rs17131547	[Bone mineral density QTL 14], 612728 (2)	
chr1	46300001	50200000	1p33		618954	CYP4Z2P	Cytochrome P450, family 4, subfamily Z, member 2, pseudogene	CYP4Z2P	163720	ENSG00000290456			
chr1	46300001	84400000	1p33-p31.1		613606	FWS	Forsythe-Wakeling syndrome		100529224		between rs2354462 and rs718883	Forsythe-Wakeling syndrome, 613606 (2), Autosomal recessive	
chr1	46300001	50200000	1p33		613857	OFC13	Orofacial cleft 13		100653367		associated with rs3827730	Orofacial cleft 13, 613857 (2), Autosomal dominant	
chr1	46300001	50200000	1p33		618377	PAINQTL1	Pain sensitivity quantitative trait locus 1				deletion identified in 1 PAINQTL1 family	?Pain sensitivity QTL1, 618377 (4), Autosomal dominant	
chr1	46300001	50200000	1p33		616392	SKINTL, SKINTP	SKINT1-like pseudogene	SKINT1L	391037				
chr1	46303698	46316776	1p34.1	1p33	613844	UQCRH, MC3DN11	Ubiquinol-cytochrome c reductase hinge protein	UQCRH	7388	ENSG00000173660	mutation identified in 1 MC3DN11 family	?Mitochondrial complex III deficiency, nuclear type 11, 620137 (3), Autosomal recessive	Uqcrh,Uqcrh-ps1 (MGI:1913826,MGI:3641869)
chr1	46340807	46385199	1p33	1p33	615394	NSUN4	NOP2/SUN RNA methyltransferase family, member 4	NSUN4	387338	ENSG00000117481			Nsun4 (MGI:1919431)
chr1	46394317	46413845	1p33	1p33	602935	FAAH	Fatty acid amide hydrolase	FAAH	2166	ENSG00000117480		{Drug addiction, susceptibility to}, 606581 (3)	Faah (MGI:109609)
chr1	46433827	46445702	1p33	1p33	618375	FAAHP1, FAAHOUT, LINC00505	Fatty acid amide hydrolase pseudogene 1	FAAHP1	729041				
chr1	46489836	46516216	1p33	1p33	607410	DMBX1, OTX3	Diencephalon/mesencephalon homeobox 1	DMBX1	127343	ENSG00000197587			Dmbx1 (MGI:2153518)
chr1	46545641	46551647	1p33	1p33	611455	KNCN, KINO, L5	Kinocilin	KNCN	148930	ENSG00000162456			Kncn (MGI:3614952)
chr1	46557407	46604268	1p33	1p33	606724	MKNK1, MNK1	Mitogen-activated protein kinase-interacting serine/threonine kinase 1	MKNK1	8569	ENSG00000079277			Mknk1 (MGI:894316)
chr1	46607719	46616811	1p33	1p33	620804	MOB3C	MOB kinase activator 3C	MOB3C	148932	ENSG00000142961			Mob3c (MGI:2140623)
chr1	46632737	46668557	1p33	1p33	608917	ATPAF1, ATP11	ATP synthase, mitochondrial F1 complex, assembly factor 1	ATPAF1	64756	ENSG00000123472			Atpaf1 (MGI:2180560)
chr1	46675159	46719114	1p33	1p33	619559	EFCAB14, KIAA0464	EF-hand calcium-binding domain-containing protein 14	EFCAB14	9813	ENSG00000159658			Efcab14 (MGI:2442397)
chr1	46799046	46819413	1p34-p12	1p33	124075	CYP4B1	Cytochrome P450, subfamily IVB, polypeptide 1	CYP4B1	1580	ENSG00000142973			Cyp4b1 (MGI:103225)
chr1	46929188	46941476	1p33	1p33	601310	CYP4A11	Cytochrome P450, subfamily IVA, polypeptide 11	CYP4A11	1579	ENSG00000187048			Cyp4a10,Cyp4a12a,Cyp4a12b,Cyp4a14,Cyp4a29,Cyp4a30b,Cyp4a31,Cyp4a32 (MGI:1096550,MGI:3028580,MGI:3611747,MGI:3717143,MGI:3717145,MGI:3717148,MGI:88611,MGI:88612)
chr1	46961364	47055432	1p33	1p33	614999	CYP4X1, CYPIVX1	Cytochrome P450, family 4, subfamily X, polypeptide 1	CYP4X1	260293	ENSG00000186377			Cyp4x1 (MGI:1932403)
chr1	47055525	47118318	1p33	1p33	618953	CYP4Z1	Cytochrome P450, family 4, subfamily Z, member 1	CYP4Z1	199974	ENSG00000186160			
chr1	47137441	47149727	1p33	1p33	615341	CYP4A22	Cytochrome P450, family 4, subfamily A, polypeptide 22	CYP4A22	284541	ENSG00000162365			Cyp4a12a,Cyp4a12b,Cyp4a14,Cyp4a29,Cyp4a30b (MGI:1096550,MGI:3611747,MGI:3717143,MGI:3717145,MGI:88612)
chr1	47183582	47190036	1p33	1p33	607178	PDZK1IP1, MAP17	PDZK1-interacting protein 1	PDZK1IP1	10158	ENSG00000162366	near SLC in human, mouse, chicken, zebrafish		Pdzk1ip1 (MGI:1914432)
chr1	47216290	47232335	1p32	1p33	187040	TAL1, TCL5, SCL	T-cell acute lymphocytic leukemia-1	TAL1	6886	ENSG00000162367	proximal to MYCL1	Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)	Tal1 (MGI:98480)
chr1	47250139	47314896	1p33	1p33	181590	STIL, SIL, MCPH7	SCL/TAL1-interrupting locus	STIL	6491	ENSG00000123473	within about 250kb of SCL	Microcephaly 7, primary, autosomal recessive, 612703 (3), Autosomal recessive	Stil (MGI:107477)
chr1	47333790	47378839	1p32	1p33	191710	CMPK1, CMPK, UMPK, UMK, CMK	Cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	CMPK1	51727	ENSG00000162368			Cmpk1 (MGI:1913838)
chr1	47416285	47418052	1p32	1p33	601094	FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11	Forkhead box E3	FOXE3	2301	ENSG00000186790		Anterior segment dysgenesis 2, multiple subtypes, 610256 (3), Autosomal recessive; {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3), Autosomal dominant; Cataract 34, multiple types, 612968 (3), Autosomal recessive	Foxe3 (MGI:1353569)
chr1	47438044	47440691	1p34-p32	1p33	602211	FOXD2, FKHL17, FREAC9	Forkhead box D2	FOXD2	2306	ENSG00000186564			Foxd2 (MGI:1347471)
chr1	47760528	47997385	1p33	1p33	614913	TRABD2B, TIKI2	TRAB domain-containing protein 2B	TRABD2B	388630	ENSG00000269113			Trabd2b (MGI:3650152)
chr1	48222716	48248638	1p33	1p33	620216	SLC5A9, SGLT4	Solute carrier family 5 (sodium/glucose cotransporter), member 9	SLC5A9	200010	ENSG00000117834			Slc5a9 (MGI:2140201)
chr1	48261389	48472204	1p33	1p33	613947	SPATA6, SRF1, HASH	Spermatogenesis-associated protein 6	SPATA6	54558	ENSG00000132122			Spata6 (MGI:1915196)
chr1	48522511	50023954	1p33	1p33	616476	AGBL4, CCP6	ATP/GTP-binding protein-like 4	AGBL4	84871	ENSG00000186094			Agbl4 (MGI:1918244)
chr1	50048055	50203772	1p34	1p33-p32.3	168360	ELAVL4, HUD, PNEM	ELAV-like RNA binding protein 4 (Hu antigen D)	ELAVL4	1996	ENSG00000162374			Elavl4 (MGI:107427)
chr1	50200001	60800000	1p32		606852	PARK10, AAOPD	Parkinson disease 10		170534		max lod at D1S2652; ?associated with CDCP2	{Parkinson disease 10}, 606852 (2)	
chr1	50200001	60800000	1p32		613548	STQTL23	Stature quantitative trait locus 23		100529222		linked to rs628667	{Stature QTL 23}, 613548 (2)	
chr1	50417550	50423443	1p33-p32.3	1p32.3	614804	DMRTA2	Doublesex- and MAB3-related transcription factor A2	DMRTA2	63950	ENSG00000142700			Dmrta2 (MGI:2653629)
chr1	50437028	50960267	1p33	1p32.3	604460	FAF1, HFAF1	Fas-associated factor 1	FAF1	11124	ENSG00000185104			Faf1 (MGI:109419)
chr1	50960745	50974634	1p32	1p32.3	603369	CDKN2C, INK4C	Cyclin-dependent kinase inhibitor 2C	CDKN2C	1031	ENSG00000123080			Cdkn2c (MGI:105388)
chr1	51236273	51273447	1p32-p31	1p32.3	612598	RNF11	RING finger protein 11	RNF11	26994	ENSG00000123091			Rnf11 (MGI:1352759)
chr1	51287258	51345116	1p32.3	1p32.3	619885	TTC39A, C1orf34, KIAA0452	Tetratricopeptide repeat domain-contining protein 39A	TTC39A	22996	ENSG00000085831			Ttc39a (MGI:2444350)
chr1	51354263	51519266	1p32	1p32.3	600051	EPS15	Epidermal growth factor receptor pathway substrate-15	EPS15	2060	ENSG00000085832			Eps15 (MGI:104583)
chr1	51518272	51789219	1p34.2-p32.2	1p32.3	606737	OSBPL9, ORP9	Oxysterol-binding protein-like protein 9	OSBPL9	114883	ENSG00000117859			Osbpl9 (MGI:1923784)
chr1	51789210	51878727	1p32.2	1p32.3	602651	NRD1	Nardilysin (N-arginine dibasic convertase)	NRDC	4898	ENSG00000078618			Nrdc (MGI:1201386)
chr1	51907956	51990700	1p32-p31	1p32.3	179510	RAB3B	Brain antigen RAB3B	RAB3B	5865	ENSG00000169213			Rab3b (MGI:1917158)
chr1	52020131	52056171	1p32.3	1p32.3	609448	TXNDC12, TLP19, ERP18	Thioredoxin domain-containing protein 12	TXNDC12	51060	ENSG00000117862			Txndc12 (MGI:1913323)
chr1	52142089	52346634	1p32.3	1p32.3	603755	ZFYVE9, MADHIP, SARA	Zinc finger, FYVE domain containing 9	ZFYVE9	9372	ENSG00000157077			Zfyve9 (MGI:2652838)
chr1	52372829	52409503	1p32	1p32.3	601902	ORC1, ORC1L	Origin recognition complex, subunit 1	ORC1	4998	ENSG00000085840		Meier-Gorlin syndrome 1, 224690 (3), Autosomal recessive	Orc1 (MGI:1328337)
chr1	52404602	52420836	1p32.3	1p32.3	617031	PRPF38A, PRP38A	Pre-mRNA processing factor 38A	PRPF38A	84950	ENSG00000134748			Prpf38a (MGI:1916962)
chr1	52423275	52553463	1q23.3	1p32.3	613692	TUT4, ZCCHC11, KIAA0191	Terminal uridylyl transferase 4	TUT4	23318	ENSG00000134744			Tut4 (MGI:2445126)
chr1	52602371	52609051	1p32	1p32.3	615784	GPX7, NPGPX	Glutathione peroxidase 7	GPX7	2882	ENSG00000116157			Gpx7 (MGI:1914555)
chr1	52632788	52669683	1p32.3	1p32.3	620218	SHISAL2A, FAM159A	SHISA-like 2A	SHISAL2A	348378	ENSG00000182183			Shisal2a (MGI:3651644)
chr1	52684449	52698347	1p32.3	1p32.3	615623	COA7, RESA1, SELRC1, C1orf163, SCAN3	Cytochrome C oxidase assembly factor	COA7	65260	ENSG00000162377		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 (3), Autosomal recessive	Coa7 (MGI:1917143)
chr1	52726453	52827336	1p32.3	1p32.3	618673	ZYG11B	ZYG11 family, member B, cell cycle regulator	ZYG11B	79699	ENSG00000162378			Zyg11b (MGI:2685277)
chr1	52842760	52894998	1p32.3	1p32.3	618675	ZYG11A	ZYG11 family, member A, cell cycle regulator	ZYG11A	440590	ENSG00000203995			Zyg11a (MGI:2446208)
chr1	52895910	52921774	1p32.3	1p32.3	620724	ECHDC	Enoyl coenzyme A hydratase domain-containing protein 2	ECHDC2	55268	ENSG00000121310			Echdc2 (MGI:1289238)
chr1	52927276	53051698	1p32	1p32.3	184755	SCP2	Sterol carrier protein-2	SCP2	6342	ENSG00000116171	mutation identified in 1 LKDMN patient	?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3), Autosomal recessive	Scp2 (MGI:98254)
chr1	53062213	53085494	1p32.3	1p32.3	608661	PODN	Podocan	PODN	127435	ENSG00000174348			Podn (MGI:2674939)
chr1	53087183	53142638	1p32.3	1p32.3	604471	SLC1A7	Solute carrier family 1 (glutamate transporter), member 7	SLC1A7	6512	ENSG00000162383			Slc1a7 (MGI:2444087)
chr1	53196824	53214197	1p32	1p32.3	600650	CPT2, IIAE4	Carnitine palmitoyltransferase II	CPT2	1376	ENSG00000157184	formerly at 1p13	{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3), Autosomal recessive, Autosomal dominant; CPT II deficiency, infantile, 600649 (3), Autosomal recessive; CPT II deficiency, lethal neonatal, 608836 (3), Autosomal recessive; CPT II deficiency, myopathic, stress-induced, 255110 (3), Autosomal recessive, Autosomal dominant	Cpt2 (MGI:109176)
chr1	53226900	53238518	1p34-p33	1p32.3	602603	MAGOH	Mago homolog, exon junction complex subunit	MAGOH	4116	ENSG00000162385			Magoh (MGI:1330312)
chr1	53242364	53328070	1p34	1p32.3	602600	LRP8, APOER2, MCI1	Low density lipoprotein receptor-related protein 8 (Apolipoprotein E receptor 2)	LRP8	7804	ENSG00000157193		{Myocardial infarction, susceptibility to}, 608446 (3)	Lrp8 (MGI:1340044)
chr1	53459399	53467488	1p32.2	1p32.3	614805	DMRTB1	Doublesex- and MAB3-related transcription factor B1	DMRTB1	63948	ENSG00000143006			Dmrtb1 (MGI:1927125)
chr1	53506239	53739164	1p32.3	1p32.3	610378	GLIS1	Glis family zinc finger protein 1	GLIS1	148979	ENSG00000174332			Glis1 (MGI:2386723)
chr1	53765478	53838296	1p32.3	1p32.3	610115	TMEM48, NDC1	Transmembrane protein 48	NDC1	55706	ENSG00000058804			Ndc1 (MGI:1920037)
chr1	53851733	53889797	1p32.3	1p32.3	617521	YIPF1	YIP1 domain family, member 1	YIPF1	54432	ENSG00000058799			Yipf1 (MGI:1915532)
chr1	53894187	53911086	1p33-p32	1p32.3	147892	DIO1, TXDI1, THMA2	Deiodinase, iodothyronine, type I	DIO1	1733	ENSG00000211452		Thyroid hormone metabolism, abnormal, 2, 619855 (3), Autosomal dominant	Dio1 (MGI:94896)
chr1	53911576	53946305	1p32.3	1p32.3	620841	IFT25, C1orf41	Intraflagellar transport 25	IFT25	51668	ENSG00000081870			Ift25 (MGI:1920188)
chr1	53946350	53968168	1p32.3	1p32.3	620896	LRRC42	Leucine-rich repeat-containing protein 42	LRRC42	115353	ENSG00000116212			Lrrc42 (MGI:1925059)
chr1	54026681	54053573	1p32.3	1p32.3	617084	TMEM59, DCF1	Transmembrane protein 59	TMEM59	9528	ENSG00000116209			Tmem59 (MGI:1929278)
chr1	54132687	54153000	1p32	1p32.3	612320	CDCP2	Cub domain-containing protein 2	CDCP2	200008	ENSG00000157211	?associated with PARK10		Cdcp2 (MGI:3045328)
chr1	54200167	54225489	1p32.1	1p32.3	611843	MRPL37	Mitochondrial ribosomal protein L37	MRPL37	51253	ENSG00000116221			Mrpl37 (MGI:1926268)
chr1	54225432	54413490	1p31.3	1p32.3	607390	SSBP3	Single-stranded DNA-binding protein 3	SSBP3	23648	ENSG00000157216			Ssbp3 (MGI:1919725)
chr1	54548228	54639192	1p32.3	1p32.3	606803	ACOT11, THEA, BFIT, BFIT1, BFIT2, KIAA0707	Acyl-CoA thioesterase 11	ACOT11	26027	ENSG00000162390			Acot11 (MGI:1913736)
chr1	54715861	54742657	1p31.3	1p32.3	606753	TTC4	Tetratricopeptide repeat domain 4	TTC4	7268	ENSG00000243725	pseudogene on 7p14-p13		Ttc4 (MGI:1919604)
chr1	54756898	54764523	1p32.2	1p32.3	612036	PARS2, DEE75	Prolyl-tRNA synthetase 2	PARS2	25973	ENSG00000162396		Developmental and epileptic encephalopathy 75, 618437 (3), Autosomal recessive	Pars2 (MGI:2386296)
chr1	54806063	54842252	1p32.3	1p32.3	616446	LEXM, C1orf177, LEM	Lymphocyte expansion molecule	CIMAP2	163747	ENSG00000162398			Cimap2 (MGI:2681853)
chr1	54849627	54887195	1p33-p31.1	1p32.3	606418	DHCR24, KIAA0018	24-dehydrocholesterol reductase	DHCR24	1718	ENSG00000116133		Desmosterolosis, 602398 (3), Autosomal recessive	Dhcr24 (MGI:1922004)
chr1	54998933	55017172	1p31	1p32.3	606412	BSND	Barttin	BSND	7809	ENSG00000162399		Sensorineural deafness with mild renal dysfunction, 602522 (3), Autosomal recessive; Bartter syndrome, type 4a, 602522 (3), Autosomal recessive	Bsnd (MGI:2153465)
chr1	55039548	55064852	1p32.3	1p32.3	607786	PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1, FHCL3	Proprotein convertase, subtilisin/kexin-type, 9	PCSK9	255738	ENSG00000169174		{Low density lipoprotein cholesterol level QTL 1}, 603776 (3), Autosomal dominant; Hypercholesterolemia, familial, 3, 603776 (3), Autosomal dominant	Pcsk9 (MGI:2140260)
chr1	55066359	55215364	1p32.3	1p32.3	610569	USP24, KIAA1057	Ubiquitin-specific protease 24	USP24	23358	ENSG00000162402			Usp24 (MGI:1919936)
chr1	56494761	56579563	1p32.2	1p32.2	607125	PLPP3, PPAP2B	Phospholipid phosphatase 3	PLPP3	8613	ENSG00000162407			Plpp3 (MGI:1915166)
chr1	56645314	56715335	1p31	1p32.2	600497	PRKAA2, AMPK	Protein kinase, AMP-activated, alpha-2 catalytic subunit	PRKAA2	5563	ENSG00000162409			Prkaa2 (MGI:1336173)
chr1	56718789	56826914	1p32.2	1p32.2	618478	FYB2, ARAP, C1orf168	FYN-binding protein 2	FYB2	199920	ENSG00000187889			Fyb2 (MGI:2685466)
chr1	56854797	56918223	1p32	1p32.2	120950	C8A	Complement component-8, alpha polypeptide	C8A	731	ENSG00000157131		C8 deficiency, type I, 613790 (3), Autosomal recessive	C8a (MGI:2668347)
chr1	56929207	56966015	1p32	1p32.2	120960	C8B	Complement component-8, beta polypeptide	C8B	732	ENSG00000021852		C8 deficiency, type II, 613789 (3), Autosomal recessive	C8b (MGI:88236)
chr1	56994778	58546726	1p32-p31	1p32.2-p32.1	603448	DAB1, SCA37	DAB adaptor protein 1	DAB1	1600	ENSG00000173406		Spinocerebellar ataxia 37, 615945 (3), Autosomal dominant	Dab1 (MGI:108554)
chr1	58480719	58546726	1p32.3-p32.1	1p32.2-p32.1	617081	OMA1, MPRP1	OMA1 zinc metallopeptidase	OMA1	115209	ENSG00000162600			Oma1 (MGI:1914263)
chr1	58575433	58577252	1p32	1p32.1	137290	TACSTD2, TROP2, M1S1	Tumor-associated calcium signal transducer 2	TACSTD2	4070	ENSG00000184292		Corneal dystrophy, gelatinous drop-like, 204870 (3), Autosomal recessive	Tacstd2 (MGI:1861606)
chr1	58654743	58700062	1p32.1	1p32.1	612176	MYSM1, 2ADUB, KIAA1915, BMFS4	MYB-like, SWIRM, and MPN domains-containing protein 1	MYSM1	114803	ENSG00000162601		Bone marrow failure syndrome 4, 618116 (3), Autosomal recessive	Mysm1 (MGI:2444584)
chr1	58780791	58784047	1p32-p31	1p32.1	165160	JUN	Jun protooncogene, AP-1 transcription factor subunit	JUN	3725	ENSG00000177606			Jun (MGI:96646)
chr1	59296378	59762730	1p32.1	1p32.1	611370	FGGY, FLJ10986	FGGY carbohydrate kinase domain-containing protein	FGGY	55277	ENSG00000172456			Fggy (MGI:1922828)
chr1	59814949	59876322	1p32.1	1p32.1	607820	HOOK1, HK1	Hook microtubule tethering protein 1	HOOK1	51361	ENSG00000134709			Hook1 (MGI:1925213)
chr1	59893308	59969212	1p31.3-p31.2	1p32.1	601258	CYP2J2	Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase), polypeptide 2	CYP2J2	1573	ENSG00000134716			Cyp2j11,Cyp2j12,Cyp2j13,Cyp2j5,Cyp2j6,Cyp2j7,Cyp2j8,Cyp2j9 (MGI:1270148,MGI:1270149,MGI:1921769,MGI:2140224,MGI:2385197,MGI:2449816,MGI:2449817,MGI:3717097)
chr1	59990394	60073770	1p32.1	1p32.1	618860	C1orf87, CREF	Chromosome 1 open reading frame 87	C1orf87	127795	ENSG00000162598			Gm12695 (MGI:3650206)
chr1	60800001	84400000	1p31		601676	AIR	Acute insulin response		7808			Acute insulin response, 601676 (2)	
chr1	60800001	84400000	1p31		610906	ASRT4	Asthma-related traits, susceptibility to, 4		100188823		max lod at D1S2890	{Asthma-related traits, susceptibility to, 4}, 610906 (2)	
chr1	60800001	106700000	1p31-p21		606215	AVSD1, AVCD	Atrioventricular septal defect, susceptibility to, 1		7446			{Atrioventricular septal defect, susceptibility to, 1}, 606215 (2)	
chr1	60800001	84400000	1p31		615892	OFC14	Orofacial cleft 14		103581096			Orofacial cleft 14, 615892 (2), Autosomal recessive	
chr1	60800001	68500000	1p31.3		164750	OPHLC, C1DUPp31.3, DUP1p31.3	Omphalocele due to duplication of 1p31.3				duplication of 710kb at 1p31.3	Omphalocele due to duplication of 1p31.3, 164750 (4), Isolated cases	
chr1	60800001	84400000	1p31		606787	PAOD1	Peripheral arterial occlusive disease 1		171513			Peripheral arterial occlusive disease 1, 606787 (2)	
chr1	60800001	84400000	1p31.3-p31.1		612293	POROK5, DSAP3	Porokeratosis 5, disseminated superficial actinic		100190982		between D1S438 and D1S464	Porokeratosis 5, disseminated superficial actinic, 612293 (2)	
chr1	61077227	61462788	1p31.3-p31.2	1p31.3	600727	NFIA, BRMUTD	Nuclear factor I/A	NFIA	4774	ENSG00000162599		Brain malformations with or without urinary tract defects, 613735 (3), Autosomal dominant	Nfia (MGI:108056)
chr1	61681046	61725141	1p31.3	1p31.3	610080	TM2D1, BBP	TM2 domain-containing protein 1	TM2D1	83941	ENSG00000162604			Tm2d1 (MGI:2137022)
chr1	61742480	62163915	1p31.3	1p31.3	603199	PATJ, INADL	PALS1-associated tight junction protein	PATJ	10207	ENSG00000132849			Patj (MGI:1277960)
chr1	62236165	62319434	1p31.3	1p31.3	614612	KANK4	KN motif- and ankyrin repeat domain-containing protein 4	KANK4	163782	ENSG00000132854			Kank4 (MGI:3043381)
chr1	62436395	62451804	1p32.1-p31.3	1p31.3	603478	USP1	Ubiquitin-specific protease 1	USP1	7398	ENSG00000162607			Usp1 (MGI:2385198)
chr1	62454726	62688386	1p31.3	1p31.3	615730	DOCK7, KIAA1771, DEE23	Dedicator of cytokinesis 7	DOCK7	85440	ENSG00000116641		Developmental and epileptic encephalopathy 23, 615859 (3), Autosomal recessive	Dock7 (MGI:1914549)
chr1	62597520	62606313	1p31	1p31.3	604774	ANGPTL3, ANGPT5, FHBL2	Angiopoietin-like 3	ANGPTL3	27329	ENSG00000132855		Hypobetalipoproteinemia, familial, 2, 605019 (3), Autosomal recessive	Angptl3 (MGI:1353627)
chr1	62784132	62865516	1p31.3	1p31.3	611339	ATG4C, APG4C	Autophagy related 4C cysteine peptidase	ATG4C	84938	ENSG00000125703			Atg4c (MGI:2651854)
chr1	63322567	63325128	1p31	1p31.3	611539	FOXD3, AIS1, VAMAS2	Forkhead box D3	FOXD3	27022	ENSG00000187140		{Autoimmune disease, susceptibility to, 1}, 607836 (3), Autosomal dominant	Foxd3 (MGI:1347473)
chr1	63367627	63438553	1p22.3	1p31.3	604566	ALG6, CDG1C	ALG6 alpha-1,3-glucosyltransferase	ALG6	29929	ENSG00000088035		Congenital disorder of glycosylation, type Ic, 603147 (3), Autosomal recessive	Alg6 (MGI:2444031)
chr1	63440770	63529187	1p31.3	1p31.3	605494	ITGB3BP, NRIF3	Integrin, beta-3, binding protein of	ITGB3BP	23421	ENSG00000142856			Itgb3bp (MGI:1914983)
chr1	63523525	63585370	1p31.3	1p31.3	617632	EFCAB7, KIAA1799	EF-hand calcium-binding domain-containing protein 7	EFCAB7	84455	ENSG00000203965			Efcab7 (MGI:2385199)
chr1	63593411	63660245	1p31	1p31.3	171900	PGM1, GSD14, CDG1T	Phosphoglucomutase-1	PGM1	5236	ENSG00000079739	distal to ACADM; formerly 1p22.1	Congenital disorder of glycosylation, type It, 614921 (3), Autosomal recessive	Pgm1 (MGI:97565)
chr1	63774017	64181498	1p31.3	1p31.3	602336	ROR1, NTRKR1	Receptor tyrosine kinase-like orphan receptor 1	ROR1	4919	ENSG00000185483	mutation identified in 1 DFNB108 family	?Deafness, autosomal recessive 108, 617654 (3), Autosomal recessive	Ror1 (MGI:1347520)
chr1	64470129	64693053	1p13.3	1p31.3	620144	CACHD1, KIAA1573	CACHE domain-containing protein 1	CACHD1	57685	ENSG00000158966			Cachd1 (MGI:2444177)
chr1	64745075	64833232	1p31.3	1p31.3	609953	RAVER2, KIAA1579	Ribonucleoprotein, PTB binding 2	RAVER2	55225	ENSG00000162437			Raver2 (MGI:2443623)
chr1	64833229	65067746	1p31.3	1p31.3	147795	JAK1, AIIDE	Janus kinase 1 (a protein-tyrosine kinase)	JAK1	3716	ENSG00000162434	related gene on 9p24	Autoinflammation, immune dysregulation, and eosinophilia, 618999 (3), Autosomal dominant	Jak1 (MGI:96628)
chr1	65058434	65058508	1p31.3	1p31.3	612511	MIR101-1, MIRN101-1	Micro RNA 101-1	MIR101-1	406893	ENSG00000199135	another locus, MIRN101-2, on 9p24		Mir101a (MGI:2676803)
chr1	65147552	65232145	1p31.3	1p31.3	103030	AK4, AK3	Adenylate kinase 4	AK4	205	ENSG00000162433			Ak4 (MGI:87979)
chr1	65264749	65415871	1p32.1-p31.3	1p31.3	608375	DNAJC6, DJC6, KIAA0473, PARK19	DNAJ heat shock protein family (Hsp40) member C6	DNAJC6	9829	ENSG00000116675		Parkinson disease 19a, juvenile-onset, 615528 (3), Autosomal recessive; Parkinson disease 19b, early-onset, 615528 (3), Autosomal recessive	Dnajc6 (MGI:1919935)
chr1	65420652	65641559	1p31	1p31.3	601007	LEPR, OBR, LEPRD	Leptin receptor	LEPR	3953	ENSG00000116678		Obesity, morbid, due to leptin receptor deficiency, 614963 (3), Autosomal recessive	Lepr (MGI:104993)
chr1	65420668	65436007	1p31	1p31.3	613461	LEPROT, OBRGRP	Leptin receptor overlapping transcript	LEPROT	54741	ENSG00000213625	transcribed in same direction as LEPR		Leprot (MGI:2687005)
chr1	65792510	66374579	1p31	1p31.3	600127	PDE4B, DPDE4	Phosphodiesterase-4B, cAMP-specific (dunce-like phosphodiesterase E4)	PDE4B	5142	ENSG00000184588			Pde4b (MGI:99557)
chr1	66533361	66751139	1p31.3	1p31.3	611540	SGIP1	SH3-domain GRB2-like (endophilin)-interacting protein 1	SGIP1	84251	ENSG00000118473			Sgip1 (MGI:1920344)
chr1	66752459	66779047	1p31.3	1p31.3	619994	DYNLT6, TCTEX1D1	Dynein light chain, TCTEX-type family, member 5	DYNLT5	200132	ENSG00000152760			Dynlt5 (MGI:1914594)
chr1	66797740	66801276	1p31.1-p22.3	1p31.3	606413	INSL5	Insulin-like 5	INSL5	10022	ENSG00000172410			Insl5 (MGI:1346085)
chr1	66812885	66924856	1p31.3	1p31.3	619156	DNAI4, WDR78	Dynein, axonemal, intermediate chain 4	DNAI4	79819	ENSG00000152763			Dnai4 (MGI:2385328)
chr1	66924990	66988619	1p31.3	1p31.3	616848	MIER1, KIAA1610	MIER1 transcriptional regulator	MIER1	57708	ENSG00000198160			Mier1 (MGI:1918398)
chr1	66972976	67054148	1p32-p31	1p31.3	610804	SLC35D1, UGTREL7, KIAA0260, SHNKND	Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1	SLC35D1	23169	ENSG00000116704		Schneckenbecken dysplasia, 269250 (3), Autosomal recessive	Slc35d1 (MGI:2140361)
chr1	67138637	67265903	1p31.3	1p31.3	607562	IL23R, IBD17	Interleukin 23 receptor	IL23R	149233	ENSG00000162594		{Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3)	Il23r (MGI:2181693)
chr1	67307364	67398724	1p31.2	1p31.3	601642	IL12RB2	Interleukin 12 receptor, beta-2	IL12RB2	3595	ENSG00000081985			Il12rb2 (MGI:1270861)
chr1	67407810	67430402	1p31.3	1p31.3	607378	SERBP1, PAIRBP1	Serpine1 mRNA-binding protein 1	SERBP1	26135	ENSG00000142864			Serbp1 (MGI:1914120)
chr1	67685201	67688334	1p34-p12	1p31.3	126335	DDIT1, GADD45	DNA damage-inducible transcript-1	GADD45A	1647	ENSG00000116717			Gadd45a (MGI:107799)
chr1	67701475	67833467	1p31.3	1p31.3	615405	GNG12	Guanine nucleotide-binding protein, gamma 12	GNG12	55970	ENSG00000172380			Gng12 (MGI:1336171)
chr1	67832288	68202987	1p31.3	1p31.3	615406	GNG12AS1	GNG12 antisense RNA 1	GNG12-AS1	100289178	ENSG00000232284			
chr1	68045962	68050627	1p31.3	1p31.3	605193	DIRAS3, ARHI	DIRAS family, GTP-binding RAS-like protein 3	DIRAS3	9077	ENSG00000162595			
chr1	68098459	68232546	1p31.3	1p31.3	611514	WLS, GPR177, EVI, ZKS	WNT ligand secretion mediator	WLS	79971	ENSG00000116729		Zaki syndrome, 619648 (3), Autosomal recessive	Wls (MGI:1915401)
chr1	68428822	68449954	1p31	1p31.3	180069	RPE65, RP20, LCA2	RPE65 retinoid isomerohydrolase	RPE65	6121	ENSG00000116745		Retinitis pigmentosa 20, 613794 (3), Autosomal recessive; Retinitis pigmentosa 87 with choroidal involvement, 618697 (3), Autosomal dominant; Leber congenital amaurosis 2, 204100 (3), Autosomal recessive	Rpe65 (MGI:98001)
chr1	68474152	68497082	1p31.2	1p31.3	612002	DEPDC1	DEP domain-containing 1	DEPDC1	55635	ENSG00000024526			Depdc1a (MGI:1923381)
chr1	68500001	69300000	1p31.2		613008	PBC3	Biliary cirrhosis, primary, 3		100303717		associated with rs3790567	{Biliary cirrhosis, primary, 3}, 613008 (2)	
chr1	69300001	106700000	1p31.1-p21.1		609727	SPG29	Spastic paraplegia 29, autosomal dominant		619379		max lod at D1S2865	Spastic paraplegia 29, autosomal dominant, 609727 (2), Autosomal dominant	
chr1	69567922	70144364	1p31.1	1p31.1	614453	LRRC7, DENSIN, KIAA1365	Leucine-rich repeat-containing protein 7	LRRC7	57554	ENSG00000033122			Lrrc7 (MGI:2676665)
chr1	69919322	69920317	1p31	1p31.1	602051	PIN1L	Peptidyl-prolyl cis/trans isomerase, NIMA-interacting-like	PIN1P1	5301	ENSG00000293134	?transcribed pseudogene		
chr1	70205696	70253052	1p31.1	1p31.1	602010	SRSF11, SFRS11	Splicing factor, serine/arginine-rich, 11	SRSF11	9295	ENSG00000116754			Srsf11 (MGI:1916457)
chr1	70258999	70354722	1p31.1	1p31.1	615125	ANKRD13C	Ankyrin repeat domain-containing protein 13C	ANKRD13C	81573	ENSG00000118454			Ankrd13c (MGI:2139746)
chr1	70354811	70368023	1p31.1	1p31.1	604372	HHLA3	Human endogenous retrovirus-H long terminal repeat-associating 3	ANKRD13C-DT	11147	ENSG00000197568			
chr1	70411268	70439851	1p31.1	1p31.1	607657	CTH	Cystathionine gamma-lyase	CTH	1491	ENSG00000116761	previously assigned to chr.16	Cystathioninuria, 219500 (3), Autosomal recessive	Cth (MGI:1339968)
chr1	70852358	71047816	1p31.2	1p31.1	176806	PTGER3, EP3	Prostaglandin E receptor 3, EP3 subtype	PTGER3	5733	ENSG00000050628			Ptger3 (MGI:97795)
chr1	71063291	71081035	1p22.1-p21.3	1p31.1	604347	ZRANB2, ZNF265, ZIS	Zinc finger RANBP2-type domain-containing protein 2	ZRANB2	9406	ENSG00000132485			Zranb2 (MGI:1858211)
chr1	71395943	72282539	1p31.1	1p31.1	613173	NEGR1, KILON	Neuronal growth regulator 1	NEGR1	257194	ENSG00000172260			Negr1 (MGI:2444846)
chr1	74026015	74198176	1p31.1	1p31.1	617957	LRRIQ3, LRRC44	Leucine rich repeats- and IQ motif-containing protein 3	LRRIQ3	127255	ENSG00000162620			Lrriq3 (MGI:1921685)
chr1	74198242	74208702	1p31.1	1p31.1	603609	FPGT, GFPP	Fucose-1-phosphate guanylyltransferase	FPGT	8790	ENSG00000254685			Fpgt (MGI:1922790)
chr1	74235387	74544428	1p31.1	1p31.1	613932	TNNI3K, CCDD	TNNI3-interacting kinase	TNNI3K	51086	ENSG00000116783		Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3), Autosomal dominant	Tnni3k (MGI:2443276)
chr1	74568123	74674343	1p31.1	1p31.1	620866	ERICH3, C1orf173	Glutamate-rich protein 3	ERICH3	127254	ENSG00000178965			Erich3 (MGI:1919095)
chr1	74705486	74733050	1p31-p22	1p31.1	123691	CRYZ	Crystallin, zeta (quinone reductase)	CRYZ	1429	ENSG00000116791			Cryz (MGI:88527)
chr1	74733152	74766677	1p31.3	1p31.1	611245	TYW3	tRNA-yW synthesizing protein 3 homolog	TYW3	127253	ENSG00000162623			Tyw3 (MGI:2445040)
chr1	75128434	75199454	1p31.1	1p31.1	604425	LHX8	LIM homeobox 8	LHX8	431707	ENSG00000162624			Lhx8 (MGI:1096343)
chr1	75202129	75724015	1p31.1	1p31.1	620329	SLC44A5, CTL5	Solute carrier family 44, member 5	SLC44A5	204962	ENSG00000137968			Slc44a5 (MGI:3035141)
chr1	75724709	75763679	1p31	1p31.1	607008	ACADM, MCAD	Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain	ACADM	34	ENSG00000117054		Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3), Autosomal recessive	Acadm (MGI:87867)
chr1	75786194	75795090	1p31	1p31.1	179080	RABGGTB	Rab geranylgeranyltransferase, beta subunit	RABGGTB	5876	ENSG00000137955			Rabggtb (MGI:99537)
chr1	75796882	75913242	1p31	1p31.1	602105	MSH4, POF20, SPGF2	mutS homolog 4	MSH4	4438	ENSG00000057468		Premature ovarian failure 20, 619938 (3), Autosomal recessive; Spermatogenic failure 2, 108420 (3), Autosomal recessive	Msh4 (MGI:1860077)
chr1	75918873	75932404	1p31.1	1p31.1	619936	ASB17	Ankyrin repeat- and SOCS box-containing protein 17	ASB17	127247	ENSG00000154007			Asb17 (MGI:1914022)
chr1	76074746	76637339	1p31.1	1p31.1	610133	ST6GALNAC3, SIAT7C	ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	ST6GALNAC3	256435	ENSG00000184005			St6galnac3 (MGI:1341828)
chr1	76867480	77067546	1p31.1	1p31.1	610134	ST6GALNAC5, SIAT7E	ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6 sialyltransferase 5	ST6GALNAC5	81849	ENSG00000117069			St6galnac5 (MGI:1349471)
chr1	77088989	77219430	1p31.1	1p31.1	605087	PIGK, GPI8, NEDHCAS	Phosphatidylinositol glycan, class K	PIGK	10026	ENSG00000142892		Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, 618879 (3), Autosomal recessive	Pigk (MGI:1913863)
chr1	77282019	77559966	1p31	1p31.1	608009	AK5	Adenylate kinase 5	AK5	26289	ENSG00000154027			Ak5 (MGI:2677491)
chr1	77562416	77683398	1p31.1	1p31.1	619892	ZZZ3	Zinc finger ZZ-type domain-containing protein 3	ZZZ3	26009	ENSG00000036549			Zzz3 (MGI:1920453)
chr1	77695987	77759852	1p31.1	1p31.1	615146	USP33, VDU1	Ubiquitin-specific protease 33	USP33	23032	ENSG00000077254			Usp33 (MGI:2159711)
chr1	77779649	77879540	1p31.1	1p31.1	616773	MIGA1, FAM73A	Mitoguardin 1	MIGA1	374986	ENSG00000180488			Miga1 (MGI:1924567)
chr1	77881348	77889539	1p31.1	1p31.1	618370	NEXAS1	NEXN antisense RNA 1	NEXN-AS1	374987	ENSG00000235927			
chr1	77888624	77943895	1p32-p31	1p31.1	613121	NEXN, NELIN, CMD1CC, CMH20	Nexilin F-actin binding protein	NEXN	91624	ENSG00000162614		Cardiomyopathy, dilated, 1CC, 613122 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 20, 613876 (3), Autosomal dominant	Nexn (MGI:1916060)
chr1	77944055	77979501	1p31.1	1p31.1	603444	FUBP1, FUBP, FBP	Far upstream element-binding protein 1	FUBP1	8880	ENSG00000162613			Fubp1 (MGI:1196294)
chr1	77979175	78017964	1p31.1	1p31.1	611327	DNAJB4, HLJ1, CMYO21	DNAJ/HSP40 homolog, subfamily B, member 4	DNAJB4	11080	ENSG00000162616		Congenital myopathy 21 with early respiratory failure, 620326 (3), Autosomal recessive	Dnajb4 (MGI:1914285)
chr1	78044970	78138444	1p31.1	1p31.1	619089	GIPC2	GIPC PDZ domain-containing family, member 2	GIPC2	54810	ENSG00000137960			Gipc2 (MGI:1889209)
chr1	78490974	78540701	1p31.1	1p31.1	600563	PTGFR	Prostaglandin F receptor (FP)	PTGFR	5737	ENSG00000122420			Ptgfr (MGI:97796)
chr1	78620448	78646145	1p31.1	1p31.1	613975	IFI44L	Interferon-induced protein 44-like	IFI44L	10964	ENSG00000137959			Ifi44l (MGI:95975)
chr1	78649789	78664078	1p31.1	1p31.1	610468	IFI44, P44	Interferon-induced protein 44	IFI44	10561	ENSG00000137965			Ifi44 (MGI:2443016)
chr1	78889764	79006730	1p31.1	1p31.1	616419	ADGRL4, ETL, ELTD1	Adhesion G protein-coupled receptor L4	ADGRL4	64123	ENSG00000162618			Adgrl4 (MGI:2655562)
chr1	81306132	81993932	1p31.1	1p31.1	607018	ADGRL2, LPHN2, LPHH1, CIRL2, CL2, KIAA0786	Adhesion G protein-coupled receptor L2	ADGRL2	23266	ENSG00000117114			Adgrl2 (MGI:2139714)
chr1	83865024	83999132	1p31.1	1p31.1	618813	TTLL7	Tubulin tyrosine ligase-like 7	TTLL7	79739	ENSG00000137941			Ttll7 (MGI:1918142)
chr1	84078079	84238498	1p31.1	1p31.1	176892	PRKACB, CAFD2	Protein kinase, cAMP-dependent, catalytic, beta	PRKACB	5567	ENSG00000142875		Cardioacrofacial dysplasia 2, 619143 (3), Somatic mosaicism, Autosomal dominant	Prkacb (MGI:97594)
chr1	84298538	84350798	1p31.1	1p31.1	620800	SAMD13, DJL	Sterile alpha motif domain-containing protein 13	SAMD13	148418	ENSG00000203943			Samd13 (MGI:2686498)
chr1	84398484	84415018	1p22.3	1p31.1-p22.3	608057	DNASE2B, DLAD	Deoxyribonuclease II beta	DNASE2B	58511	ENSG00000137976			Dnase2b (MGI:1913283)
chr1	84400001	94300000	1p22		608035	CMM4	Melanoma, cutaneous malignant, 4		474388		between D1S430 and D1S2664	{Melanoma, cutaneous malignant, 4}, 608035 (2), Autosomal dominant	
chr1	84400001	94300000	1p22		611381	KAZA2	Kala-azar, susceptibility to, 2		101241898			{Kala-azar, susceptibility to, 2}, 611381 (2)	
chr1	84400001	94300000	1p22		191540	UOX	Urate oxidase, pseudogene	UOX	391051		nonsense mutations responsible for absence of enzyme in man and hominoid primates	[Urate oxidase deficiency] (1)	
chr1	84498325	84506581	1p22	1p22.3	600874	GNG5	Guanine nucleotide-binding protein (G protein), gamma 5	GNG5	2787	ENSG00000174021			Gng5,Gng5-ps,Gng5c (MGI:109164,MGI:3782541,MGI:3783217)
chr1	84549611	84574440	1p22	1p22.3	600873	CTBS, CTB	Chitobiase, di-N-acetyl-	CTBS	1486	ENSG00000117151			Ctbs (MGI:1921495)
chr1	84643706	84690745	1p22.3	1p22.3	608690	SSX2IP, ADIP, KIAA0923	SSX2-interacting protein	SSX2IP	117178	ENSG00000117155			Ssx2ip (MGI:2139150)
chr1	84811602	84893206	1p31.1-p22.3	1p22.3	605106	LPAR3, EDG7, LPA3	Lysophosphatidic acid receptor 3	LPAR3	23566	ENSG00000171517			Lpar3 (MGI:1929469)
chr1	84925583	84997113	1p22	1p22.3	607399	MCOLN2	Mucolipin 2	MCOLN2	255231	ENSG00000153898	incorrectly assigned to chr.3		Mcoln2 (MGI:1915529)
chr1	85018082	85048500	1p22.3	1p22.3	607400	MCOLN3	Mucolipin 3	MCOLN3	55283	ENSG00000055732			Mcoln3 (MGI:1890500)
chr1	85062327	85133138	1p22.3	1p22.3	617968	WDR63	WD repeat-containing protein 63	DNAI3	126820	ENSG00000162643			Dnai3 (MGI:3045269)
chr1	85152491	85201016	1p22.3	1p22.3	620834	SYDE2	Synapse defective Rho GTPase homolog 2	SYDE2	84144	ENSG00000097096			Syde2 (MGI:3036264)
chr1	85265776	85276632	1p22	1p22.3	603517	BCL10, IMD37	BCL10 immune signaling adaptor	BCL10	8915	ENSG00000142867	mutation identified in 1 IMD37 patient	{Lymphoma, follicular, somatic}, 605027 (3); ?Immunodeficiency 37, 616098 (3), Autosomal recessive; {Sezary syndrome, somatic} (3); {Male germ cell tumor, somatic}, 273300 (3); Lymphoma, MALT, somatic, 137245 (3); {Mesothelioma, somatic}, 156240 (3)	Bcl10 (MGI:1337994)
chr1	85318485	85578200	1p22	1p22.3	604743	DDAH1	Dimethylarginine dimethylaminohydrolase-1	DDAH1	23576	ENSG00000153904			Ddah1 (MGI:1916469)
chr1	85580761	85583950	1p22.3	1p22.3	602369	CCN1, CYR61, IGFBP10	Cellular communication network factor 1	CCN1	3491	ENSG00000142871			Ccn1 (MGI:88613)
chr1	85649417	85708433	1p22.3	1p22.3	620473	ZNHIT6, BCD1	Zinc finger HIT domain-containing protein 6	ZNHIT6	54680	ENSG00000117174			Znhit6 (MGI:1916996)
chr1	85729233	86156984	1p22.3	1p22.3	610025	COL24A1	Collagen, type XXIV, alpha-1	COL24A1	255631	ENSG00000171502			Col24a1 (MGI:1918605)
chr1	86346837	86396323	1p22.3	1p22.3	620130	ODF2L, KIAA1229	Outer dense fiber of sperm tails 2-like protein	ODF2L	57489	ENSG00000122417			Odf2l (MGI:1098600)
chr1	86424171	86456553	1p22.3	1p22.3	604003	CLCA2	Chloride channel accessory 2	CLCA2	9635	ENSG00000137975			Clca2 (MGI:2139758)
chr1	86468927	86500259	1p22.3	1p22.3	603906	CLCA1, CACC1	Chloride channel accessory 1	CLCA1	1179	ENSG00000016490			Clca1 (MGI:1346342)
chr1	86547078	86580754	1p22.3	1p22.3	616857	CLCA4, CACC2	Chloride channel accessory 4	CLCA4	22802	ENSG00000016602			Clca4a,Clca4b (MGI:2139744,MGI:2139790)
chr1	86634276	86655376	1p22.3	1p22.3	604337	CLCA3	Chloride channel accessory 3	CLCA3P	9629	ENSG00000291014			
chr1	86704576	86748184	1p22.3	1p22.3	609287	SH3GLB1, KIAA0491	SH3 domain, GRB2-like, endophilin B1	SH3GLB1	51100	ENSG00000097033			Sh3glb1 (MGI:1859730)
chr1	86862445	86914577	1p31	1p22.3	606254	SELENOF, SEP15	Selenoprotein F	SELENOF	9403	ENSG00000183291			Selenof (MGI:1927947)
chr1	86914635	87109982	1p22	1p22.3	604844	HS2ST1, NFSRA	Heparan sulfate 2-O-sulfotransferase 1	HS2ST1	9653	ENSG00000153936		Neurofacioskeletal syndrome with or without renal agenesis, 619194 (3), Autosomal recessive	Hs2st1 (MGI:1346049)
chr1	87328880	87348923	1p22.3	1p22.3	603129	LMO4	LIM domain only 4	LMO4	8543	ENSG00000143013			Lmo4 (MGI:109360)
chr1	88684273	88836255	1p22.2	1p22.2	602549	PKN2, PRKCL2, PRK2, PAK2	Protein kinase N2	PKN2	5586	ENSG00000065243			Pkn2 (MGI:109211)
chr1	88852633	88891567	1p22.2	1p22.2	189963	GTF2B, TFIIB, TF2B	General transcription factor IIb	GTF2B	2959	ENSG00000137947			Gtf2b (MGI:2385191)
chr1	88921044	88992960	1p22.2	1p22.2	610656	CCBL2, KAT3	Cysteine conjugate beta-lyase 2	KYAT3	56267	ENSG00000137944			Kyat3 (MGI:2677849)
chr1	89006680	89022866	1p22.2	1p22.2	600413	GBP3	Guanylate-binding protein 3	GBP3	2635	ENSG00000117226			Gbp2b (MGI:95666)
chr1	89052319	89065208	1p22.2	1p22.2	600411	GBP1	Guanylate binding protein 1, interferon-inducible, 67kD	GBP1	2633	ENSG00000117228			Gbp2,Gbp2b (MGI:102772,MGI:95666)
chr1	89106132	89126114	1p22.2	1p22.2	600412	GBP2	Guanylate-binding protein 2, interferon-inducible	GBP2	2634	ENSG00000162645			Gbp2,Gbp2b (MGI:102772,MGI:95666)
chr1	89131742	89176003	1p22.2	1p22.2	612468	GBP7	Guanylate-binding protein 7	GBP7	388646	ENSG00000213512			Gbp3,Gbp7 (MGI:1926263,MGI:2444421)
chr1	89181144	89198942	1p22.2	1p22.2	612466	GBP4	Guanylate-binding protein 4	GBP4	115361	ENSG00000162654			Gbp3 (MGI:1926263)
chr1	89256189	89272860	1p22.2	1p22.2	611467	GBP5	Guanylate-binding protein 5	GBP5	115362	ENSG00000154451			Gbp5 (MGI:2429943)
chr1	89364059	89388160	1p22.2	1p22.2	612467	GBP6	Guanylate-binding protein 6	GBP6	163351	ENSG00000183347			Gbp10,Gbp11,Gbp4,Gbp6,Gbp8,Gbp9 (MGI:1923324,MGI:2140937,MGI:3605620,MGI:3646307,MGI:4359647,MGI:97072)
chr1	89524829	89597861	1p22.2	1p22.2	612888	LRRC8B, TALRRP, KIAA0231	Leucine-rich repeat-containing protein 8B	LRRC8B	23507	ENSG00000197147			Lrrc8b (MGI:2141353)
chr1	89615824	89719533	1p22.2	1p22.2	612889	LRRC8C, FAD158, AD158, TIMES	Leucine-rich repeat-containing protein 8C	LRRC8C	84230	ENSG00000171488		TIMES syndrome, 621056 (3), Autosomal dominant	Lrrc8c (MGI:2140839)
chr1	89821032	89936611	1p22.2	1p22.2	612890	LRRC8D, LRRC5	Leucine-rich repeat-containing protein 8D	LRRC8D	55144	ENSG00000171492			Lrrc8d (MGI:1922368)
chr1	89995110	90035533	1p22.2	1p22.2	614601	ZNF326, ZIRD	Zinc finger protein 326	ZNF326	284695	ENSG00000162664			Zfp326 (MGI:1927246)
chr1	90711539	90717302	1p22.3	1p22.2	605212	BARHL2	BARH-like 2	BARHL2	343472	ENSG00000143032			Barhl2 (MGI:1859314)
chr1	90915304	91022035	1p22.2	1p22.2	614159	ZNF644, MYP21	Zinc finger protein 644	ZNF644	84146	ENSG00000122482		Myopia 21, autosomal dominant, 614167 (3), Autosomal dominant	Zfp644 (MGI:1277212)
chr1	91260766	91408007	1p22.2	1p22.2	615684	HFM1, MER3, POF9	Helicase for meiosis 1	HFM1	164045	ENSG00000162669		Premature ovarian failure 9, 615724 (3), Autosomal recessive	Hfm1 (MGI:3036246)
chr1	91500851	91525764	1p22	1p22.1	603311	CDC7, CDC7L1	Cell division cycle 7	CDC7	8317	ENSG00000097046			Cdc7 (MGI:1309511)
chr1	91680343	91906002	1p33-p32	1p22.1	600742	TGFBR3	Transforming growth factor, beta receptor III (betaglycan, 300kD)	TGFBR3	7049	ENSG00000069702			Tgfbr3 (MGI:104637)
chr1	91949371	92014428	1p22.1	1p22.1	602144	BRDT, SPGF21	Bromodomain, testis-specific	BRDT	676	ENSG00000137948	mutation identified in 1 SPGF21 patient	?Spermatogenic failure 21, 617644 (3), Autosomal recessive	Brdt (MGI:1891374)
chr1	92029985	92063538	1p22.1	1p22.1	617401	EPHX4, ABHD7	Epoxide hydrolase 4	EPHX4	253152	ENSG00000172031			Ephx4 (MGI:2686228)
chr1	92080345	92184723	1p22.1	1p22.1	617945	BTBD8, KIAA1107, APACHE	BTB domain-containing protein 8	BTBD8	284697	ENSG00000189195			Btbd8 (MGI:3646208)
chr1	92217915	92245813	1p22.1	1p22.1	618968	C1orf146, SPO16, SCRE	Chromosome 1 open reading frame 146	C1orf146	388649	ENSG00000203910			1700028K03Rik (MGI:1923671)
chr1	92246402	92370844	1p22-p21	1p22.1	601749	GLMN, GVM, VMGLOM	Glomulin	GLMN	11146	ENSG00000174842		Glomuvenous malformations, 138000 (3), Autosomal dominant	Glmn (MGI:2141180)
chr1	92299059	92402056	1p22.1	1p22.1	611476	RPAP2, C1orf82	RNA polymerase II-associated protein 2	RPAP2	79871	ENSG00000122484			Rpap2 (MGI:2141142)
chr1	92473043	92486925	1p22	1p22.1	600871	GFI1, ZNF163, SCN2	Growth factor independent 1	GFI1	2672	ENSG00000162676	mutation identified in 1 NICINA patient	?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3), Autosomal dominant; Neutropenia, severe congenital 2, autosomal dominant, 613107 (3), Autosomal dominant	Gfi1 (MGI:103170)
chr1	92508696	92792410	1p22	1p22.1	602942	EVI5, NB4S	Ecotropic viral integration site 5	EVI5	7813	ENSG00000067208			Evi5 (MGI:104736)
chr1	92831986	92841924	1p22.1	1p22.1	603634	RPL5, DBA6	Ribosomal protein L5	RPL5	6125	ENSG00000122406		Diamond-Blackfan anemia 6, 612561 (3), Autosomal dominant	Rpl5 (MGI:102854)
chr1	92832729	92961462	1p22.1	1p22.1	614542	DIPK1A, FAM69A	Divergent protein kinase domain 1A	DIPK1A	388650	ENSG00000154511			Dipk1a (MGI:1914516)
chr1	92837289	92837383	1p22.1	1p22.1	603635	SNORD21, RNU21	Small nucleolar RNA, C/D box 21	SNORD21	6083	ENSG00000206680			
chr1	93079283	93139076	1p22.1	1p22.1	609882	MTF2, PCL2, M96	Metal-regulatory transcription factor 2	MTF2	22823	ENSG00000143033			Mtf2 (MGI:105050)
chr1	93149742	93180413	1p22.1	1p22.1	616876	TMED5	Transmembrane p24 trafficking protein 5	TMED5	50999	ENSG00000117500			Tmed5 (MGI:1921586)
chr1	93345907	93369493	1p22.1	1p22.1	601482	DR1	Down-regulator of transcription 1, TBP-binding (negative cofactor 2)	DR1	1810	ENSG00000117505			Dr1 (MGI:1100515)
chr1	93448118	93554661	1p22.1	1p22.1	608848	FNBP1L, TOCA1, C1orf39	Formin binding protein 1-like	FNBP1L	54874	ENSG00000137942			Fnbp1l (MGI:1925642)
chr1	93561741	93848151	1p22.1	1p22.1	604704	BCAR3, SH2D3B, NSP2	Breast cancer antiestrogen resistance 3	BCAR3	8412	ENSG00000137936			Bcar3 (MGI:1352501)
chr1	93866284	93879206	1p22.1	1p22.1	611199	DNTTIP2, ERBP, FCF2	DNTT-interacting protein 2	DNTTIP2	30836	ENSG00000067334			Dnttip2 (MGI:1923173)
chr1	93885199	93909430	1p22.1	1p22.1	601176	GCLM, GLCLR	Glutamate-cysteine ligase, modifier subunit	GCLM	2730	ENSG00000023909		{Myocardial infarction, susceptibility to}, 608446 (3)	Gclm (MGI:104995)
chr1	93992834	94121148	1p22.1	1p22.1	601691	ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2	ATP-binding transporter, retina-specific	ABCA4	24	ENSG00000198691		Retinal dystrophy, early-onset severe, 248200 (3), Autosomal recessive; Retinitis pigmentosa 19, 601718 (3), Autosomal recessive; {Macular degeneration, age-related, 2}, 153800 (3), Autosomal dominant; Cone-rod dystrophy 3, 604116 (3), Autosomal recessive; Fundus flavimaculatus, 248200 (3), Autosomal recessive; Stargardt disease 1, 248200 (3), Autosomal recessive	Abca4 (MGI:109424)
chr1	94168905	94314592	1p22.1	1p22.1-p21.3	610496	ARHGAP29, PARG1	RHO GTPase-activating protein 29	ARHGAP29	9411	ENSG00000137962			Arhgap29 (MGI:2443818)
chr1	94300001	106700000	1p21		609822	STQTL7	Stature quantitative trait locus 7		100037265		max lod at D1S1631	{Stature QTL 7}, 609822 (2)	
chr1	94300001	111200000	1p21-p13.3		600193	WS2B	Waardenburg syndrome, type 2B		7488			Waardenburg syndrome, type 2B, 600193 (2), Autosomal dominant	
chr1	94385131	94518663	1p22-p21	1p21.3	170995	ABCD3, PXMP1, PMP70, CBAS5	ATP-binding cassette, subfamily D, member 3 (peroxisomal membrane protein 1, 70kD)	ABCD3	5825	ENSG00000117528	mutation identified in 1 CBAS5 family	?Bile acid synthesis defect, congenital, 5, 616278 (3), Autosomal recessive	Abcd3 (MGI:1349216)
chr1	94529173	94541759	1p22-p21	1p21.3	134390	F3, TFA	Coagulation factor III	F3	2152	ENSG00000117525			F3 (MGI:88381)
chr1	94820357	94895247	1p21.3	1p21.3	620328	SLC44A3, CTL3	Solute carrier family 44, member 3	SLC44A3	126969	ENSG00000143036			Slc44a3 (MGI:2384860)
chr1	94896957	94927110	1p22-p21	1p21.3	602374	CNN3	Calponin 3, acidic	CNN3	1266	ENSG00000117519			Cnn3 (MGI:1919244)
chr1	94974405	95072951	1p21.3	1p21.3	612866	ALG14, CMS15, IDDEBF, MEPCA	ALG14 UDP-N-acetylglucosaminyltransferase subunit	ALG14	199857	ENSG00000172339	mutation identified in 1 CMSWTA family	Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies, 619031 (3), Autosomal recessive; Myopathy, epilepsy, and progressive cerebral atrophy, 619036 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3), Autosomal recessive	Alg14 (MGI:1914039)
chr1	95234155	95247225	1p21.3	1p21.3	615875	RWDD3, RSUME	RWD domain-containing protein 3	RWDD3	25950	ENSG00000122481			Rwdd3 (MGI:1920420)
chr1	96721784	96823739	1p21	1p21.3	608449	PTBP2, NPTB	Polypyrimidine tract-binding protein 2	PTBP2	58155	ENSG00000117569			Ptbp2 (MGI:1860489)
chr1	97077743	97921059	1p22	1p21.3	612779	DPYD, DPD	Dihydropyrimidine dehydrogenase	DPYD	1806	ENSG00000188641		Dihydropyrimidine dehydrogenase deficiency, 274270 (3), Autosomal recessive; 5-fluorouracil toxicity, 274270 (3), Autosomal recessive	Dpyd (MGI:2139667)
chr1	98046070	98046171	1p22	1p21.3	614304	MIR137, MIRN137	Micro RNA 137	MIR137	406928	ENSG00000284202			Mir137 (MGI:2676822)
chr1	98661319	98760500	1p21.3	1p21.3	614904	SNX7	Sorting nexin 7	SNX7	51375	ENSG00000162627			Snx7 (MGI:1923811)
chr1	98890245	99005786	1p21.3	1p21.3	617287	PLPPR5, LPPR5, PAP2D, PAP2	Phospholipid phosphatase-related protein 5	PLPPR5	163404	ENSG00000117598			Plppr5 (MGI:1923019)
chr1	99262924	99309584	1p21.3	1p21.3-p21.2	607813	PLPPR4, LPPR4, PRG1, KIAA0455	Phospholipid phosphatase-related protein 4	PLPPR4	9890	ENSG00000117600			Plppr4 (MGI:106530)
chr1	99646113	99694535	1p21.2	1p21.2	610182	PALMD, PALML	Palmdelphin	PALMD	54873	ENSG00000099260			Palmd (MGI:2148896)
chr1	99703970	99766635	1p21.2	1p21.2	611578	FRRS1, SDR2	Ferric chelate reductase 1	FRRS1	391059	ENSG00000156869			Frrs1 (MGI:108076)
chr1	99849258	99924023	1p21	1p21.2	610860	AGL, GDE	Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme)	AGL	178	ENSG00000162688		Glycogen storage disease IIIa, 232400 (3), Autosomal recessive; Glycogen storage disease IIIb, 232400 (3), Autosomal recessive	Agl (MGI:1924809)
chr1	99969996	100035634	1p21	1p21.2	605632	SLC35A3, AMRS	Solute carrier family 35 (UDP-GlcNAc transporter), member 3	SLC35A3	23443	ENSG00000117620		Arthrogryposis, impaired intellectual development, and seizures, 615553 (3), Autosomal recessive	Slc35a3 (MGI:1917648)
chr1	100038095	100083377	1p21.2	1p21.2	620347	MFSD14A, HAIT1	Major facilitator superfamily domain-containing protein 14A	MFSD14A	64645	ENSG00000156875			Mfsd14a (MGI:1201609)
chr1	100083570	100132930	1p21.2	1p21.2	609321	SASS6, SAS6, MCPH14	SAS-6 centriolar assembly protein	SASS6	163786	ENSG00000156876		Microcephaly 14, primary, autosomal recessive, 616402 (3), Autosomal recessive	Sass6 (MGI:1920026)
chr1	100186919	100249834	1p31	1p21.2	248610	DBT, BCATE2, MSUD2	Dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex)	DBT	1629	ENSG00000137992	pseudogene on 3q24	Maple syrup urine disease, type II, 620699 (3), Autosomal recessive	Dbt (MGI:105386)
chr1	100266216	100292769	1p21.2	1p21.2	611286	RTCA, RTCD1, RPC	RNA 3'-terminal phosphate cyclase	RTCA	8634	ENSG00000137996			Rtca (MGI:1913618)
chr1	100345001	100520277	1p21	1p21.2	603504	CDC14A, DFNB32	Cell division cycle 14A	CDC14A	8556	ENSG00000079335		Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3), Autosomal recessive	Cdc14a (MGI:2442676)
chr1	100538139	100542021	1p21.2	1p21.2	607468	GPR88, STRG, COCPMR	G protein-coupled receptor 88	GPR88	54112	ENSG00000181656	mutation identified in 1 COCPMR family	?Chorea, childhood-onset, with psychomotor retardation, 616939 (3), Autosomal recessive	Gpr88 (MGI:1927653)
chr1	100719742	100739045	1p32-p31	1p21.2	192225	VCAM1	Vascular cell adhesion molecule-1	VCAM1	7412	ENSG00000162692			Vcam1 (MGI:98926)
chr1	100872372	100895179	1p12-p11	1p21.2	602411	EXTL2	Exostosin-like 2	EXTL2	2135	ENSG00000162694			Extl2 (MGI:1889574)
chr1	100896090	100996078	1p21.2	1p21.2	611149	SLC30A7, ZNT7, ZHS	Solute carrier family 30 (zinc transporter), member 7	SLC30A7	148867	ENSG00000162695		Ziegler-Huang syndrome, 620501 (3), Autosomal recessive	Slc30a7 (MGI:1913750)
chr1	100989623	101025784	1p21.2	1p21.2	611075	DPH5, HSPC143, NEDSFF	Diphthamide biosynthesis protein 5	DPH5	51611	ENSG00000117543		Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, 620070 (3), Autosomal recessive	Dph5 (MGI:1916990)
chr1	101236899	101242313	1p21	1p21.2	601974	S1PR1, EDG1, S1P1	Sphingosine-1-phosphate receptor 1	S1PR1	1901	ENSG00000170989			S1pr1 (MGI:1096355)
chr1	101800001	111200000	1p21.1-p13.3		611107	MRT4	Intellectual developmental disorder, autosomal recessive 4		100009675		between D2S429 and D1S187	Intellectual developmental disorder, autosomal recessive 4, 611107 (2), Autosomal recessive	
chr1	101802560	101996926	1p21	1p21.1	607567	OLFM3, NOE3	Olfactomedin 3	OLFM3	118427	ENSG00000118733			Olfm3 (MGI:2387329)
chr1	102876473	103108522	1p21	1p21.1	120280	COL11A1, STL2, DFNA37	Collagen XI, alpha-1 polypeptide	COL11A1	1301	ENSG00000060718		Fibrochondrogenesis 1, 228520 (3), Autosomal recessive; Stickler syndrome, type II, 604841 (3), Autosomal dominant; Marshall syndrome, 154780 (3), Autosomal dominant; Deafness, autosomal dominant 37, 618533 (3), Autosomal dominant; {Lumbar disc herniation, susceptibility to}, 603932 (3)	Col11a1 (MGI:88446)
chr1	103525699	103555239	1p21.1	1p21.1	618016	RNPC3, SNRNP65, KIAA1839, CPHD7	RNA-binding region-containing protein 3	RNPC3	55599	ENSG00000185946		Pituitary hormone deficiency, combined or isolated, 7, 618160 (3), Autosomal recessive	Rnpc3 (MGI:1914475)
chr1	103554644	103579534	1p21	1p21.1	104660	AMY2B	Amylase, pancreatic, alpha-2B	AMY2B	280	ENSG00000240038	distal to NGFB		Amy1,Amy2a1,Amy2a2,Amy2a3,Amy2a4,Amy2a5 (MGI:104548,MGI:3711220,MGI:3711258,MGI:3714985,MGI:88019,MGI:88020)
chr1	103616651	103625780	1p21	1p21.1	104650	AMY2A	Amylase, pancreatic, alpha-2A	AMY2A	279	ENSG00000243480			Amy1,Amy2a1,Amy2a2,Amy2a3,Amy2a4,Amy2a5 (MGI:104548,MGI:3711220,MGI:3711258,MGI:3714985,MGI:88019,MGI:88020)
chr1	103655519	103664554	1p21	1p21.1	104700	AMY1A	Amylase, salivary, alpha-1A	AMY1A	276	ENSG00000237763	multiple amylase genes		Amy1,Amy2a1,Amy2a2,Amy2a3,Amy2a4,Amy2a5 (MGI:104548,MGI:3711220,MGI:3711258,MGI:3714985,MGI:88019,MGI:88020)
chr1	103687415	103696453	1p21	1p21.1	104701	AMY1B	Amylase, salivary, alpha-1B	AMY1B	277	ENSG00000174876			Amy1,Amy2a1,Amy2a2,Amy2a3,Amy2a4,Amy2a5 (MGI:104548,MGI:3711220,MGI:3711258,MGI:3714985,MGI:88019,MGI:88020)
chr1	103749654	103758692	1p21	1p21.1	104702	AMY1C	Amylase, salivary, alpha-1C	AMY1C	278	ENSG00000187733			Amy1,Amy2a1,Amy2a2,Amy2a3,Amy2a4,Amy2a5 (MGI:104548,MGI:3711220,MGI:3711258,MGI:3714985,MGI:88019,MGI:88020)
chr1	106700001	111200000	1p13.3		118943	CYMP	Chymosin pseudogene	CYMP	643160	ENSG00000240194			
chr1	106700001	117200000	1p13		193000	VUR1	Vesicoureteral reflux		54113			Vesicoureteral reflux 1, 193000 (2), Autosomal dominant	
chr1	107056674	107059294	1p13.3	1p13.3	608274	PRMT6	Protein arginine N-methyltransferase 6	PRMT6	55170	ENSG00000198890			Prmt6 (MGI:2139971)
chr1	107140088	107484923	1p13.3	1p13.3	608818	NTNG1, LMNT1, KIAA0976	Netrin G1	NTNG1	22854	ENSG00000162631			Ntng1 (MGI:1934028)
chr1	107571161	107965180	1p13.3	1p13.3	605541	VAV3	VAV guanine nucleotide exchange factor 3	VAV3	10451	ENSG00000134215			Vav3 (MGI:1888518)
chr1	108134043	108200343	1p36.13	1p13.3	608744	SLC25A24, SCAMC1	Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24	SLC25A24	29957	ENSG00000085491		Fontaine progeroid syndrome, 612289 (3), Autosomal dominant	Slc25a24 (MGI:1917160)
chr1	108222464	108272913	1p12	1p13.3	613994	NBPF4	Neuroblastoma breakpoint family, member 4	NBPF4	148545	ENSG00000196427			
chr1	108375971	108383614	1p12	1p13.3	613995	NBPF5P	NBPF member 5, pseudogene	NBPF5P	100507044				
chr1	108421491	108471920	1p12	1p13.3	613996	NBPF6	Neuroblastoma breakpoint family, member 6	NBPF6	653149	ENSG00000186086			
chr1	108648295	108661474	1p13.3	1p13.3	612178	HENMT1, C1orf59, HEN1	HEN methyltransferase 1	HENMT1	113802	ENSG00000162639			Henmt1 (MGI:1913965)
chr1	108746674	108809523	1p13.3	1p13.3	608339	STXBP3, MUNC18C, PSP	Syntaxin-binding protein 3	STXBP3	6814	ENSG00000116266			Stxbp3 (MGI:107362)
chr1	108876985	108934545	1p13.1	1p13.3	609245	GPSM2, LGN, PINS, DFNB82, CMCS	G-protein signaling modulator 2	GPSM2	29899	ENSG00000121957		Chudley-McCullough syndrome, 604213 (3), Autosomal recessive	Gpsm2 (MGI:1923373)
chr1	108929505	108963484	1p13.3	1p13.3	617539	CLCC1, MCLC, RP32	Chloride channel CLIC-like 1	CLCC1	23155	ENSG00000121940		Retinitis pigmentosa 32, 609913 (3), Autosomal recessive	Clcc1 (MGI:2385186)
chr1	108970214	109042102	1p13.3	1p13.3	615734	WDR47, NEMITIN, KIAA0893	WD repeat-containing protein 47	WDR47	22911	ENSG00000085433			Wdr47 (MGI:2139593)
chr1	109064140	109076003	1p13.3	1p13.3	600774	TAF13, TAF2K, MRT60	TAF13 RNA polymerase II, TATA box-binding protein-associated factor, 18kD	TAF13	6884	ENSG00000197780		Intellectual developmental disorder, autosomal recessive 60, 617432 (3), Autosomal recessive	Taf13 (MGI:1913500)
chr1	109105951	109113831	1p13.3	1p13.3	618682	CFAP276, C10orf194	Cilia- and flagella-associated protein 276	CFAP276	127003	ENSG00000179902			Cfap276 (MGI:1922754)
chr1	109114115	109206781	1p13.3	1p13.3	611298	ELAPOR1, KIAA1324, EIG121	Endosome-lysosome-associated apoptosis and autophagy regulator 1	ELAPOR1	57535	ENSG00000116299			Elapor1 (MGI:1923930)
chr1	109213893	109238182	1p13	1p13.3	607529	SARS1, SARS, SERS, NEDMAS	Seryl-tRNA synthetase 1	SARS1	6301	ENSG00000031698		Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3), Autosomal recessive	Sars1 (MGI:102809)
chr1	109249539	109275751	1p21	1p13.3	604265	CELSR2, EGFL2, MEGF3	Cadherin EGF LAG seven-pass G-type receptor 3 (epidermal growth factor-like 2)	CELSR2	1952	ENSG00000143126			Celsr2 (MGI:1858235)
chr1	109279556	109283145	1p13.1	1p13.3	613126	PSRC1, DDA3	Proline/serine-rich coiled-coil protein 1	PSRC1	84722	ENSG00000134222			Psrc1 (MGI:1913099)
chr1	109292365	109307011	1p13.3	1p13.3	619807	MYBPHL	Myosin-binding protein H-like	MYBPHL	343263	ENSG00000221986			Mybphl (MGI:1916003)
chr1	109309575	109397918	1p13.3	1p13.3	602458	SORT1, NT3, LDLCQ6	Sortilin	SORT1	6272	ENSG00000134243		[Low density lipoprotein cholesterol level QTL6], 613589 (3), Autosomal dominant	Sort1 (MGI:1338015)
chr1	109399042	109426448	1p13	1p13.3	176844	PSMA5, PSC5	Proteasome component 5	PSMA5	5686	ENSG00000143106			Psma5 (MGI:1347009)
chr1	109504178	109509727	1p13.3	1p13.3	615689	AMIGO1, ALI2, KIAA1163	Adhesion molecule with Ig-like domain 1	AMIGO1	57463	ENSG00000181754			Amigo1 (MGI:2653612)
chr1	109539872	109547260	1p13.3	1p13.3	606916	GPR61	G protein-coupled receptor 61	GPR61	83873	ENSG00000156097			Gpr61 (MGI:2441719)
chr1	109548615	109600195	1p13	1p13.3	139370	GNAI3, ARCND1	Guanine nucleotide-binding protein (G-protein), alpha-inhibiting activity polypeptide-3	GNAI3	2773	ENSG00000065135		Auriculocondylar syndrome 1, 602483 (3), Autosomal dominant	Gnai3 (MGI:95773)
chr1	109598893	109598967	1p13.3	1p13.3	611189	MIR197	Micro rNA 197	MIR197	406974	ENSG00000284443			
chr1	109603091	109619616	1p13	1p13.3	139340	GNAT2, ACHM4	Guanine nucleotide-binding protein (G-protein), alpha-transducing (transducin) activity polypeptide-2	GNAT2	2780	ENSG00000134183		Achromatopsia 4, 613856 (3)	Gnat2 (MGI:95779)
chr1	109619837	109632055	1p13.3	1p13.3	102771	AMPD2, SPG63, PCH9	Adenosine monophosphate deaminase-2, isoform L	AMPD2	271	ENSG00000116337	mutation identified in 1 SPG63 family	Pontocerebellar hypoplasia, type 9, 615809 (3), Autosomal recessive; ?Spastic paraplegia 63, autosomal recessive, 615686 (3), Autosomal recessive	Ampd2 (MGI:88016)
chr1	109656099	109667727	1p13.3	1p13.3	138333	GSTM4	Glutathione S-transferase M4	GSTM4	2948	ENSG00000168765			Gstm4 (MGI:95862)
chr1	109668057	109683997	1p13.3	1p13.3	138380	GSTM2, GST4	Glutathione S-transferase M2, muscle	GSTM2	2946	ENSG00000213366			Gstm7 (MGI:1915562)
chr1	109687817	109693745	1p13.3	1p13.3	138350	GSTM1	Glutathione S-transferase M1	GSTM1	2944	ENSG00000134184			Gstm1,Gstm2,Gstm3,Gstm6 (MGI:106026,MGI:1309467,MGI:95860,MGI:95861)
chr1	109711751	109718268	1p13.3	1p13.3	138385	GSTM5	Glutathione S-transferase M5	GSTM5	2949	ENSG00000134201	pseudogene on chr.3		Gstm1,Gstm2 (MGI:95860,MGI:95861)
chr1	109733937	109741038	1p13.3	1p13.3	138390	GSTM3, GST5	Glutathione S-transferase M3, brain	GSTM3	2947	ENSG00000134202			Gstm5 (MGI:1309466)
chr1	109750080	109763923	1p13.3	1p13.3	614989	EPS8L3, EPS8R3, HYPT5	EPS8-like protein 3	EPS8L3	79574	ENSG00000198758	mutation identified in 1 HYPT5 family	?Hypotrichosis 5, 612841 (3), Autosomal dominant	Eps8l3 (MGI:2139743)
chr1	109910506	109930992	1p21-p13	1p13.3	120420	CSF1, MCSF	Colony-stimulating factor-1 (macrophage)	CSF1	1435	ENSG00000184371	incorrectly assigned to chr.5		Csf1 (MGI:1339753)
chr1	109984765	110023742	1p13.3	1p13.3	607826	AHCYL1, DCAL, IRBIT	Adenosylhomocysteine-like 1	AHCYL1	10768	ENSG00000168710			Ahcyl1 (MGI:2385184)
chr1	110031577	110054641	1p13.3	1p13.3	617918	STRIP1, FAR11A, FAM40A	Striatin-interacting protein 1	STRIP1	85369	ENSG00000143093			Strip1 (MGI:2443884)
chr1	110059870	110070672	1p21-p13	1p13.3	606014	ALX3, FND1	Aristaless-like homeobox 3	ALX3	257	ENSG00000156150		Frontonasal dysplasia 1, 136760 (3), Autosomal recessive	Alx3 (MGI:1277097)
chr1	110112443	110113947	1p13.3	1p13.3	611127	UBL4B	Ubiquitin-like 4B	UBL4B	164153	ENSG00000186150			Ubl4b (MGI:1914841)
chr1	110150494	110202202	1p13.3	1p13.3	610299	SLC6A17, NTT4, MRT48	Solute carrier family 6 (neurotransmitter transporter), member 17	SLC6A17	388662	ENSG00000197106		Intellectual developmental disorder, autosomal recessive 48, 616269 (3), Autosomal recessive	Slc6a17 (MGI:2442535)
chr1	110210314	110284080	1p13.3	1p13.3	176265	KCNC4	Potassium voltage-gated channel, Shaw-related subfamily, member 4	KCNC4	3749	ENSG00000116396			Kcnc4 (MGI:96670)
chr1	110339377	110346677	1p13	1p13.3	606077	RBM15, SPEN, OTT	One-twenty two protein (RNA binding motif protein 15; Spen, Drosophila, homolog of)	RBM15	64783	ENSG00000162775			Rbm15 (MGI:2443205)
chr1	110362857	110391026	1p13.3	1p13.3	603878	SLC16A4, MCT5	Solute carrier family 16 (monocarboxylic acid transporter) member 4	SLC16A4	9122	ENSG00000168679			Slc16a4 (MGI:2385183)
chr1	110401253	110407924	1p13.2	1p13.3	608521	LAMTOR5, HBXIP, XIP	Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 5	LAMTOR5	10542	ENSG00000134248			Lamtor5 (MGI:1915826)
chr1	110451149	110457358	1p21	1p13.3	606233	PROK1, PK1, PRK1, EGVEGF	Prokineticin 1	PROK1	84432	ENSG00000143125			Prok1 (MGI:2180370)
chr1	110517217	110519175	1p13.1	1p13.3	602420	KCNA10	Potassium voltage-gated channel, shaker-related subfamily, member 10	KCNA10	3744	ENSG00000143105			Kcna10 (MGI:3037820)
chr1	110593580	110631440	1p13.3	1p13.3	176262	KCNA2, DEE32	Potassium channel, voltage-gated, Shaker-related subfamily, member 2	KCNA2	3737	ENSG00000177301		Developmental and epileptic encephalopathy 32, 616366 (3), Autosomal dominant	Kcna2 (MGI:96659)
chr1	110653560	110674940	1p21-p13.3	1p13.3	176263	KCNA3	Potassium voltage-gated channel, shaker-related subfamily, member 3	KCNA3	3738	ENSG00000177272	mapped probably in error to chr.13		Kcna3 (MGI:96660)
chr1	110871210	110899922	1p21-p13.3	1p13.3	151525	CD53, MOX44	CD53 antigen	CD53	963	ENSG00000143119			Cd53 (MGI:88341)
chr1	110874957	110963922	1p12	1p13.3	615354	LRIF1, RIF1, FSHD3	Ligand-dependent nuclear receptor-interacting factor 1	LRIF1	55791	ENSG00000121931	mutation identified in 1 FSHD3 patient	?Facioscapulohumeral muscular dystrophy 3, digenic, 619477 (3), Digenic recessive	Lrif1 (MGI:2445214)
chr1	111117163	111140093	1p13.3	1p13.3	613360	DRAM2, TMEM77, CORD21	Damage-regulated autophagy modulator 2	DRAM2	128338	ENSG00000156171		Cone-rod dystrophy 21, 616502 (3), Autosomal recessive	Dram2 (MGI:1914421)
chr1	111139499	111185104	1p13.3	1p13.3	616751	CEPT1	Choline/ethanolamine phosphotransferase 1	CEPT1	10390	ENSG00000134255			Cept1 (MGI:2139793)
chr1	111185969	111204578	1p13.3	1p13.3-p13.2	615111	DENND2D	DENN/MADD domain-containing protein 2D	DENND2D	79961	ENSG00000162777			Dennd2d (MGI:2181193)
chr1	111200001	115500000	1p13.2		617386	NR1H5P, FXRB	Nuclear receptor subfamily 1, group H, member 5, pseudogene	NR1H5P	643609	ENSG00000227970			
chr1	111227659	111243440	1p13.3	1p13.2	601526	CHI3L2, YKL39	Chitinase 3-like 2	CHI3L2	1117	ENSG00000064886			
chr1	111290851	111320563	1p21.3-p13.1	1p13.2	606080	CHIA, TSA1902, CHIT2	Chitinase, acidic	CHIA	27159	ENSG00000134216			Chia1,Chil3,Chil4,Chil5,Chil6 (MGI:1330860,MGI:1341098,MGI:1932052,MGI:2676649,MGI:2682303)
chr1	111324663	111353017	1p13.2	1p13.2	614234	C1orf88, PIFO	Chromosome 1 open reading frame 88 (pitchfork, mouse, homolog of)	CIMAP3	128344	ENSG00000173947			Cimap3 (MGI:1923670)
chr1	111414319	111427735	1p13.2	1p13.2	603578	OVGP1	Oviductal glycoprotein 1	OVGP1	5016	ENSG00000085465			Ovgp1 (MGI:106661)
chr1	111439890	111449256	1p13.2	1p13.2	611734	WDR77, MEP50	WD repeat-containing protein 77	WDR77	79084	ENSG00000116455			Wdr77 (MGI:1917715)
chr1	111449464	111462773	1p13.2	1p13.2	603270	ATP5PB, ATP5F1	ATP synthase peripheral stalk membrane, subunit B	ATP5PB	515	ENSG00000116459			Atp5pb (MGI:1100495)
chr1	111499429	111503633	1p21-p13	1p13.2	600445	ADORA3	Adenosine A3 receptor	ADORA3	140	ENSG00000282608			Adora3 (MGI:104847)
chr1	111542009	111716691	1p13.3	1p13.2	179520	RAP1A, KREV1	RAS-related protein RAP1A	RAP1A	5906	ENSG00000116473	pseudogene on 14q24.3		Rap1a (MGI:97852)
chr1	111722064	111755797	1p13.2	1p13.2	620403	INKA2, FAM212B	INKA-box actin regulator 2	INKA2	55924	ENSG00000197852			Inka2 (MGI:1923497)
chr1	111755901	111768000	1p21.1-p13.2	1p13.2	606168	DDX20	DEAD-box helicase 20	DDX20	11218	ENSG00000064703			Ddx20 (MGI:1858415)
chr1	111770662	111989668	1p13.3-p13.2	1p13.2	605411	KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9	Potassium voltage-gated channel, Shal-related subfamily, member 3	KCND3	3752	ENSG00000171385		Spinocerebellar ataxia 19, 607346 (3), Autosomal dominant; Brugada syndrome 9, 616399 (3), Autosomal dominant	Kcnd3 (MGI:1928743)
chr1	112391087	112461164	1p13.2	1p13.2	615100	CTTNBP2NL	CTTNBP2 N terminus-like protein	CTTNBP2NL	55917	ENSG00000143079			Cttnbp2nl (MGI:1933137)
chr1	112466541	112530165	1p13	1p13.2	601968	WNT2B, WNT13, XWNT2	Wingless-type MMTV integration site family, member 2B	WNT2B	7482	ENSG00000134245		Diarrhea 9, 618168 (3), Autosomal recessive	Wnt2b (MGI:1261834)
chr1	112517803	112619684	1p13	1p13.2	617640	ST7L, ST7R	Suppressor of tumorigenicity 7-like protein	ST7L	54879	ENSG00000007341			St7l (MGI:2386964)
chr1	112619832	112671616	1p13.2	1p13.2	601580	CAPZA1, CAPPA1	Capping protein, muscle Z-line, alpha-1	CAPZA1	829	ENSG00000116489			Capza1,Capza1b (MGI:106227,MGI:1913997)
chr1	112674439	112700739	1p13.2	1p13.2	610742	MOV10, KIAA1631	Mov10 RISC complex RNA helicase	MOV10	4343	ENSG00000155363			Mov10 (MGI:97054)
chr1	112701131	112707408	1p13.2	1p13.2	165380	RHOC, ARHC, ARH9, RHOH9	RAS homolog gene family, member C (oncogene RHO H9)	RHOC	389	ENSG00000155366	incorrectly assigned to chr.5		Rhoc (MGI:106028)
chr1	112709998	112715332	1p13.2	1p13.2	609957	PPM1J, PP2CZ, PPP2CZ	Protein phosphatase, magnesium-dependent, 1J	PPM1J	333926	ENSG00000155367			Ppm1j (MGI:1919137)
chr1	112718905	112727235	1p13.2	1p13.2	617497	FAM19A3, TAFA3	Family with sequence similarity 19, member A3, CC motif chemokine-like	TAFA3	284467	ENSG00000184599			Tafa3 (MGI:3046463)
chr1	112911847	112956196	1p13.2-p12	1p13.2	600682	SLC16A1, MCT1, HHF7, MCT1D	Solute carrier family 16 (monocarboxylic acid transporters), member 1	SLC16A1	6566	ENSG00000155380		Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3), Autosomal dominant; Erythrocyte lactate transporter defect, 245340 (3), Autosomal dominant; Monocarboxylate transporter 1 deficiency, 616095 (3), Autosomal recessive, Autosomal dominant	Slc16a1 (MGI:106013)
chr1	113073198	113132260	1p13	1p13.2	608869	LRIG2, LIG2, KIAA0806, UFS2	Leucine-rich repeats- and immunoglobulin-like domains-containing protein 2	LRIG2	9860	ENSG00000198799		Urofacial syndrome 2, 615112 (3), Autosomal recessive	Lrig2 (MGI:2443718)
chr1	113390515	113685923	1p21	1p13.2	615943	MAGI3, KIAA1634	Membrane-associated guanylate kinase, WW and PDZ domains-containing, 3	MAGI3	260425	ENSG00000081026			Magi3 (MGI:1923484)
chr1	113696831	113759888	1p13	1p13.2	604950	PHTF1	Putative homeodomain transcription factor 1	PHTF1	10745	ENSG00000116793			Phtf1 (MGI:1332671)
chr1	113761832	113812476	1p13.2	1p13.2	615858	RSBN1, ROSBIN	Round spermatid basic protein 1	RSBN1	54665	ENSG00000081019			Rsbn1 (MGI:2444993)
chr1	113813811	113871759	1p13	1p13.2	600716	PTPN22, PEP, PTPN8, LYP	Protein tyrosine phosphatase, nonreceptor-type 22	PTPN22	26191	ENSG00000134242		{Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3), Autosomal dominant; {Diabetes, type 1, susceptibility to}, 222100 (3), Autosomal recessive	Ptpn22 (MGI:107170)
chr1	113876816	113887581	1p13.2	1p13.2	619660	BCL2L15, BFK	BCL2-like 15	BCL2L15	440603	ENSG00000188761			Bcl2l15 (MGI:2685412)
chr1	113894194	113905028	1p13.2	1p13.2	607245	AP4B1, SPG47, CPSQ5	Adaptor-related protein complex 4, beta-1 subunit	AP4B1	10717	ENSG00000134262		Spastic paraplegia 47, autosomal recessive, 614066 (3), Autosomal recessive	Ap4b1 (MGI:1337130)
chr1	113904619	113914086	1p13.3-p13.1	1p13.2	609683	DCLRE1B, SNM1B, APOLLO, DKCB8	DNA cross-link repair protein 1B	DCLRE1B	64858	ENSG00000118655		Dyskeratosis congenita, autosomal recessive 8, 620133 (3), Autosomal recessive	Dclre1b (MGI:2156057)
chr1	113929324	113977869	1p13.2	1p13.2	608003	HIPK1	Homeodomain-interacting protein kinase 1	HIPK1	204851	ENSG00000163349			Hipk1 (MGI:1314873)
chr1	113979474	113982253	1p13.1	1p13.2	610088	OLFML3, OLF44	Olfactomedin-like 3	OLFML3	56944	ENSG00000116774			Olfml3 (MGI:1914877)
chr1	114089292	114153869	1p13.2	1p13.2	607718	SYT6	Synaptotagmin 6	SYT6	148281	ENSG00000134207			Syt6 (MGI:1859544)
chr1	114392790	114511203	1p13	1p13.2	605769	TRIM33, TIF1G, RFG7, PTC7	Tripartite motif-containing protein 33	TRIM33	51592	ENSG00000197323	fused with RET to form PTC7		Trim33 (MGI:2137357)
chr1	114567557	114581615	1p21-p13.3	1p13.2	605783	BCAS2, DAM1	BCAS2 pre-mRNA processing factor	BCAS2	10286	ENSG00000116752			Bcas2 (MGI:1915433)
chr1	114673098	114695546	1p21-p13	1p13.2	102770	AMPD1, MMDD	Adenosine monophosphate deaminase-1, muscle	AMPD1	270	ENSG00000116748		Myopathy due to myoadenylate deaminase deficiency, 615511 (3), Autosomal recessive	Ampd1 (MGI:88015)
chr1	114704469	114716771	1p13.2	1p13.2	164790	NRAS, ALPS4, NS6, CMNS, NCMS	NRAS protooncogene, GTPase	NRAS	4893	ENSG00000213281	cen-CD2-NGFB-NRAS	Noonan syndrome 6, 613224 (3), Autosomal dominant; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3); Melanocytic nevus syndrome, congenital, somatic, 137550 (3); Epidermal nevus, somatic, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Thyroid carcinoma, follicular, somatic, 188470 (3); Neurocutaneous melanosis, somatic, 249400 (3); Colorectal cancer, somatic, 114500 (3)	Nras (MGI:97376)
chr1	114716916	114757984	1p22	1p13.2	191510	CSDE1, D1S155E, UNR	Cold-shock domain-containing E1, RNA-binding	CSDE1	7812	ENSG00000009307	130bp 5' to NRAS		Csde1 (MGI:92356)
chr1	114769479	114780685	1p13.2	1p13.2	611656	SIKE	Suppressor of IKK-epsilon	SIKE1	80143	ENSG00000052723			Sike1 (MGI:1913891)
chr1	114854088	114995370	1p13	1p13.2	602162	SYCP1, SCP1	Synaptonemal complex protein-1	SYCP1	6847	ENSG00000198765			Sycp1 (MGI:105931)
chr1	115029826	115034309	1p13	1p13.2	188540	TSHB, CHNG4	Thyroid-stimulating hormone, beta polypeptide	TSHB	7252	ENSG00000134200	centromeric to NGFB	Hypothyroidism, congenital, nongoitrous 4, 275100 (3), Autosomal recessive	Tshb (MGI:98848)
chr1	115048011	115089503	1p13.2	1p13.2	613133	TSPAN2, NET3	Tetraspanin 2	TSPAN2	10100	ENSG00000134198			Tspan2 (MGI:1917997)
chr1	115285917	115338249	1p13.1	1p13.2	162030	NGF, NGFB, HSAN5	Nerve growth factor, beta	NGF	4803	ENSG00000134259	same 310kb fragment as TSHB; order: cen-CD2-CD58-ATP1A1-NGF-TSHB-NRAS-tel	Neuropathy, hereditary sensory and autonomic, type V, 608654 (3), Autosomal recessive	Ngf (MGI:97321)
chr1	115641970	115698221	1p13	1p13.1	610132	VANGL1, STBM2	Vang-like 1	VANGL1	81839	ENSG00000173218		{Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant; Caudal regression syndrome, 600145 (3), Autosomal dominant	Vangl1 (MGI:2159344)
chr1	115700021	115768714	1p13.3-p11	1p13.1	114251	CASQ2	Calsequestrin, fast-twitch, skeletal muscle-2	CASQ2	845	ENSG00000118729		Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3), Autosomal recessive	Casq2 (MGI:1309469)
chr1	115831344	115841126	1p12-p11	1p13.1	162361	NHLH2, HEN2, HH27	Nescient helix loop helix 2	NHLH2	4808	ENSG00000177551	mutation identified in 1 HH27 patient	?Hypogonadotropic hypogonadism 27 without anosmia, 619755 (3), Autosomal recessive	Nhlh2 (MGI:97324)
chr1	115976513	116070054	1p13.1	1p13.1	608275	SLC22A15, FLIPT1	Solute carrier family 22 (organic cation transporter), member 15	SLC22A15	55356	ENSG00000163393			Slc22a15 (MGI:3607704)
chr1	116373244	116404774	1p13.1	1p13.1	182310	ATP1A1, CMT2DD, HOMGSMR2	ATPase, Na+K+ transporting, alpha-1 polypeptide	ATP1A1	476	ENSG00000163399		Hypomagnesemia, seizures, and impaired intellectual development 2, 618314 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 (3), Autosomal dominant	Atp1a1 (MGI:88105)
chr1	116392865	116418622	1p13.1	1p13.1	618305	ATP1A1AS1	ATP1A1 antisense RNA 1	ATP1A1-AS1	84852	ENSG00000203865			
chr1	116514534	116571026	1p13	1p13.1	153420	CD58, LFA3	CD58 antigen (lymphocyte function-associated antigen 3)	CD58	965	ENSG00000116815	?same as MSK1; gene cloned		
chr1	116574398	116667755	1p13	1p13.1	603491	IGSF3, LCDD	Immunoglobulin superfamily, member 3	IGSF3	3321	ENSG00000143061	mutation identified in 1 LCDD family	?Lacrimal duct defect, 149700 (3), Autosomal recessive	Igsf3 (MGI:1926158)
chr1	116754430	116769229	1p13.1	1p13.1	186990	CD2	CD2 antigen (p50), sheep red blood cell receptor	CD2	914	ENSG00000116824			Cd2 (MGI:88320)
chr1	116909916	116990353	1p13.1-q21.3	1p13.1	601204	PTGFRN, FPRP	Prostaglandin F2 receptor negative regulator	PTGFRN	5738	ENSG00000134247			Ptgfrn (MGI:1277114)
chr1	117001760	117036552	1p13.1	1p13.1	604516	CD101, IGSF2	CD101 antigen	CD101	9398	ENSG00000134256			Cd101 (MGI:2685862)
chr1	117060326	117107453	1p13.1	1p13.1	604718	TTF2	Transcription termination factor 2	TTF2	8458	ENSG00000116830			Ttf2 (MGI:1921294)
chr1	117111060	117123927	1p22	1p13.1	609318	TRIM45	Tripartite motif-containing protein 45	TRIM45	80263	ENSG00000134253			Trim45 (MGI:1918187)
chr1	117143587	117210927	1p13.1	1p13.1-p12	608162	VCTN1, B7H4, B7X, B7S1	V-set domain containing T cell activation inhibitor 1	VTCN1	79679	ENSG00000134258			Vtcn1 (MGI:3039619)
chr1	117200001	120400000	1p12		618026	NOTCH2NLR	NOTCH2 N-terminal-like-related, pseudogene	NOTCH2NLR	101929796	ENSG00000286106			
chr1	117367449	117528872	1p13	1p12	604345	MAN1A2	Mannosidase, alpha, class 1A, member 2	MAN1A2	10905	ENSG00000198162			Man1a2 (MGI:104676)
chr1	117606048	117628389	1p12	1p12	613952	TENT5C, FAM46C	Terminal nucleotidyltransferase 5C	TENT5C	54855	ENSG00000183508			Tent5c (MGI:1921895)
chr1	117863485	117929621	1p12	1p12	618128	GDAP2, SCAR27	Ganglioside-induced differentiation-associated protein 2	GDAP2	54834	ENSG00000196505		Spinocerebellar ataxia, autosomal recessive 27, 618369 (3), Autosomal recessive	Gdap2 (MGI:1338001)
chr1	117929739	117966543	1p13-p12	1p12	604737	WDR3	WD repeat-containing protein 3	WDR3	10885	ENSG00000065183			Wdr3 (MGI:2443143)
chr1	117953590	118185228	1p12	1p12	616554	SPAG17, PF6, SPGF55	Sperm-associated antigen 17	SPAG17	200162	ENSG00000155761	mutation identified in 1 SPGF55 family	?Spermatogenic failure 55, 619380 (3), Autosomal recessive	Spag17 (MGI:1921612)
chr1	118883047	118989510	1p13	1p12	604127	TBX15	T-box 15	TBX15	6913	ENSG00000092607		Cousin syndrome, 260660 (3), Autosomal recessive	Tbx15 (MGI:1277234)
chr1	119031216	119140672	1p13.3-p13.1	1p12	604733	WARS2, NEMMLAS, PKDYS3	Tryptophanyl-tRNA synthetase 2	WARS2	10352	ENSG00000116874		Parkinsonism-dystonia 3, childhood-onset, 619738 (3), Autosomal recessive; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive	Wars2 (MGI:1917810)
chr1	119368785	119394130	1p13	1p12	605176	HAO2, HAOX2	Hydroxyacid oxidase 2	HAO2	51179	ENSG00000116882			Hao2 (MGI:96012)
chr1	119414931	119423034	1p13.1	1p12	613890	HSD3B2	Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 2 (adrenal, gonadal)	HSD3B2	3284	ENSG00000203859		Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3), Autosomal recessive	Hsd3b1,Hsd3b2,Hsd3b3,Hsd3b4,Hsd3b5,Hsd3b6,Hsd3b8,Hsd3b9 (MGI:104645,MGI:109598,MGI:3711284,MGI:3782634,MGI:96233,MGI:96234,MGI:96235,MGI:96236)
chr1	119507203	119515058	1p13.1	1p12	109715	HSD3B1	Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase, type 1 (placental, peripheral)	HSD3B1	3283	ENSG00000203857			Hsd3b1,Hsd3b2,Hsd3b3,Hsd3b4,Hsd3b5,Hsd3b6,Hsd3b8,Hsd3b9 (MGI:104645,MGI:109598,MGI:3711284,MGI:3782634,MGI:96233,MGI:96234,MGI:96235,MGI:96236)
chr1	119619377	119648266	1p12	1p12	620981	ZNF697, ZFP697	Zinc finger protein 697	ZNF697	90874	ENSG00000143067			Zfp697 (MGI:2139736)
chr1	119711934	119744215	1p12	1p12	606879	PHGDH, NLS1, PHGDHD	Phosphoglycerate dehydrogenase	PHGDH	26227	ENSG00000092621		Neu-Laxova syndrome 1, 256520 (3), Autosomal recessive; Phosphoglycerate dehydrogenase deficiency, 601815 (3), Autosomal recessive	Phgdh (MGI:1355330)
chr1	119747996	119768932	1p13-p12	1p12	600234	HMGCS2	3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2, mitochondrial	HMGCS2	3158	ENSG00000134240		HMG-CoA synthase-2 deficiency, 605911 (3), Autosomal recessive	Hmgcs2 (MGI:101939)
chr1	119794017	119811460	1p13.1-p12	1p12	609846	REG4	Regenerating islet-derived family, member 4	REG4	83998	ENSG00000134193			Reg4 (MGI:1914959)
chr1	119833709	119844724	1p12	1p12	613997	NBPF7	Neuroblastoma breakpoint family, member 7	NBPF7P	343505				
chr1	119893533	119896515	1p13-p11	1p12	604779	ADAM30	ADAM metallopeptidase domain 30	ADAM30	11085	ENSG00000134249			Adam30 (MGI:1918328)
chr1	119911553	120069662	1p12	1p12	600275	NOTCH2, AGS2, HJCYS	Notch receptor 2	NOTCH2	4853	ENSG00000134250		Alagille syndrome 2, 610205 (3), Autosomal dominant; Hajdu-Cheney syndrome, 102500 (3), Autosomal dominant	Notch2 (MGI:97364)
chr1	120150898	120176520	1p12	1p12	604029	SEC22B, SEC22L1	SEC22 homolog B, vesicle trafficking protein	SEC22B	9554	ENSG00000265808			Sec22b (MGI:1338759)
chr1	120400001	123400000	1p11		606190	MNRI	Meningioma, radiation-induced		117192			Meningioma, radiation-induced, 606190 (2)	
chr1	120415027	120469676	1q21.1	1p11.2	613998	NBPF8	Neuroblastoma breakpoint family, member 8	NBPF8	728841	ENSG00000270231			
chr1	120432204	120434109	1q21.1	1p11.2	608609	C1orf152, COAS3	Chromosome 1 open reading frame 152	PFN1P2	767846	ENSG00000293296			
chr1	121087345	121097161	1p12	1p11.2	601502	FCGR1B, CD34	Fc fragment of IgG receptor Ib	FCGR1BP	2210	ENSG00000291135			Fcgr1 (MGI:95498)
chr1	121167646	121184340	1p11	1p11.2	614711	FAM72B	Family with sequence similarity 72, member B	FAM72B	653820	ENSG00000188610			Fam72a (MGI:1919669)
chr1	121184975	121392874	1p12	1p11.2	614704	SRGAP2C	SLIT-ROBO Rho GTPase-activating protein 2C	SRGAP2C	653464	ENSG00000171943			Srgap2 (MGI:109605)
chr1	123400001	248956422	1q		151628	LRE2	LINE retrotransposable element-2				inserted in DMD gene		
chr1	125100001	173000000	1q12-q24		605549	CORD8	Cone-rod dystrophy 8		54109			Cone-rod dystrophy 8, 605549 (2), Autosomal recessive	
chr1	125100001	155100000	1q12-q21.3		612875	GNRHR2	Gonadotropin-releasing hormone receptor 2	GNRHR2	114814	ENSG00000293505	?processed pseudogene		
chr1	125100001	156600000	1q12-q22		189890	TRNL	tRNA asparagine-like						
chr1	143200001	155100000	1q21		611152	AD13	Alzheimer disease-13		100188837		max lod D1S498	{Alzheimer disease-13}, 611152 (2)	
chr1	143200001	156600000	1q21-q22		608781	ASPG3	Asperger syndrome, susceptibility to, 3		449015		max lod at D1S484	{Asperger syndrome susceptibility 3}, 608781 (2)	
chr1	143200001	165500000	1q21-q23		605833	BMND2	Bone mineral density QTL 2		338027			[Bone mineral density QTL 2], 605833 (2)	
chr1	143200001	147500000	1q21.1		612474	DEL1q21, C1DELq21	Chromosome 1q21.1 deletion syndrome				contiguous gene deletion syndrome	Chromosome 1q21.1 deletion syndrome, 612474 (4), Autosomal dominant, Isolated cases	
chr1	143200001	165500000	1q21-q23		608372	DFNA49	Deafness, autosomal dominant 49		317664		max lod at D1S3784 and D1S3786	Deafness, autosomal dominant 49, 608372 (2), Autosomal dominant	
chr1	143200001	147500000	1q21.1		612475	DUP1q21, C1DUPq21	Chromosome 1q21.1 duplication syndrome				contiguous gene duplication syndrome	Chromosome 1q21.1 duplication syndrome, 612475 (4), Autosomal dominant, Isolated cases	
chr1	143200001	165500000	1q21-q23		614013	ERVK-7, HERV-KIII, HERV-K102	Endogenous retrovirus group K, member 7		449619				
chr1	143200001	147500000	1q21.1		613017	NBLST6	Neuroblastoma, susceptibility to, 6		100306939		?contiguous gene deletion or duplication disease	{Neuroblastoma, susceptibility to, 6}, 613017 (2)	
chr1	143200001	147500000	1q21.1		612970	NBPF17P, NBPF23	Neuroblastoma breakpoint family, member 17, pseudogene	NBPF17P	401967	ENSG00000179571			
chr1	143200001	155100000	1q21		603935	PSORS4	Psoriasis susceptibility 4		10547			{Psoriasis susceptibility 4}, 603935 (2)	
chr1	143200001	155100000	1q21		605642	PTCPRN, PRN1	Papillary thyroid carcinoma with papillary renal neoplasia		79052			Thyroid carcinoma, papillary, with papillary renal neoplasia, 605642 (2)	
chr1	143200001	155100000	1q21		161900	RFH1, AORF	Renal failure, progressive, with hypertension		59331			Nephropathy-hypertension, 161900 (2), Autosomal dominant	
chr1	143200001	165500000	1q21-q23		613145	SLEB14	Systemic lupus erythematosus, susceptibility to, 14		100322878		associated with rs3093061	{Systemic lupus erythematosus, susceptibility to, 14}, 613145 (2)	
chr1	143200001	156600000	1q21-q22		182269	SPRR2C	Small proline-rich protein 2C	SPRR2C	6702	ENSG00000301592	prob. pseudogene		
chr1	143200001	147500000	1q21.1		614747	UAQTL6	Uric acid concentration, serum, quantitative trait locus 6		100996935		associated with C/T variant at chr1_142697422	[Uric acid concentration, serum, QTL6], 614747 (2)	
chr1	143874743	143883733	1q21	1q21.1	601503	FCGR1C, CD64	Fc fragment of IgG receptor Ic, pseudogene	FCGR1CP	100132417	ENSG00000265531			
chr1	143955287	143973564	1q21.2	1q21.1	616853	FAM72C	Family with sequence similarity 72, member C	FAM72C	554282	ENSG00000263513			Fam72a (MGI:1919669)
chr1	143972639	144069704	1q21.1	1q21.1	614705	SRGAP2D	SLIT-ROBO Rho GTPase-activating protein 2D	SRGAP2D	100996712				
chr1	144372875	144373634	1q21.1	1q21.1	608608	PPIAL4A, COAS2	Peptidylprolyl isomerase A (cyclophilin A)-like 4A	PPIAL4E	730262	ENSG00000271567			
chr1	144421390	144461669	1q21.1	1q21.1	610414	NBPF15, MGC8902	Neuroblastoma breakpoint family, member 15	NBPF15	284565	ENSG00000266338	contains 6 copies of DUF1220 domain		
chr1	144887288	145095380	1q21.1	1q21.1	614703	SRGAP2B	SLIT-ROBO Rho GTPase-activating protein 2B	SRGAP2B	647135	ENSG00000196369			Srgap2 (MGI:109605)
chr1	145094296	145112696	1p21	1q21.1	614712	FAM72D	Family with sequence similarity 72, member D	FAM72D	728833	ENSG00000215784			Fam72a (MGI:1919669)
chr1	145287766	145287839	1p36.1	1q21.1	189880	TRNAN1, TRN1, TRN	tRNA asparagine	TRN-GTT2-7	7214				
chr1	145289900	145425603	1q21.1	1q21.1	614007	NBPF20	Neuroblastoma breakpoint family, member 20	NBPF20	100288142	ENSG00000162825			
chr1	145607988	145670650	1q21.1	1q21.1	612821	GPR89A	G protein-coupled receptor 89A	GPR89A	653519	ENSG00000117262			Gpr89 (MGI:1914799)
chr1	145670852	145707400	1q21	1q21.1	603831	PDZK1	PDZ domain-containing 1	PDZK1	5174	ENSG00000174827			Pdzk1 (MGI:1928901)
chr1	145719499	145739288	1q21.1	1q21.1	604463	CD160, BY55	CD160 antigen	CD160	11126	ENSG00000117281			Cd160 (MGI:1860383)
chr1	145738868	145824095	1q21.1	1q21.1	619535	RNF115, BCA2, RABRING7, ZFP364	RING finger protein 115	RNF115	27246	ENSG00000265491			Rnf115 (MGI:1915095)
chr1	145824200	145844402	1q21.1	1q21.1	617454	POLR3C, RPC62, RPC3	Polymerase III, RNA, subunit C	POLR3C	10623	ENSG00000186141			Polr3c (MGI:1921664)
chr1	145848522	145859081	1q21	1q21.1	605987	PIAS3	Protein inhibitor of activated STAT3	PIAS3	10401	ENSG00000131788			Pias3 (MGI:1913126)
chr1	145891208	145910050	1q21.1	1q21.1	604042	ITGA10	Integrin, alpha-10	ITGA10	8515	ENSG00000143127			Itga10 (MGI:2153482)
chr1	145911348	145918717	1q21.1	1q21.1	603867	PEX11B, PEX14B	Peroxisome biogenesis 11B	PEX11B	8799	ENSG00000131779		Peroxisome biogenesis disorder 14B, 614920 (3), Autosomal recessive	Pex11b (MGI:1338882)
chr1	145921556	145927484	1q12	1q21.1	605313	RBM8A, RBM8B, TAR, C1DELq21.1, DEL1q21.1	RNA-binding motif protein 8A	RBM8A	9939	ENSG00000265241	pseudogene on chr.14	Thrombocytopenia-absent radius syndrome, 274000 (3), Autosomal recessive	Rbm8a,Rbm8a2 (MGI:1913129,MGI:3612447)
chr1	145964690	145978848	1q21.1	1q21.1	617457	POLR3GL, SOFM	Polymerase III, RNA, subunit G-like	POLR3GL	84265	ENSG00000121851		Short stature, oligodontia, dysmorphic facies, and motor delay, 619234 (3), Autosomal recessive	Polr3gl (MGI:1917120)
chr1	145992435	145996579	1q21	1q21.1	606599	TXNIP, VDUP1	Thioredoxin-interacting protein	TXNIP	10628	ENSG00000265972			Txnip (MGI:1889549)
chr1	146017470	146021735	1q21	1q21.1	608374	HJV, HFE2A	Hemojuvelin	HJV	148738	ENSG00000168509	between D1S442 and D1S2347	Hemochromatosis, type 2A, 602390 (3), Autosomal recessive	Hjv (MGI:1916835)
chr1	146064699	146144804	1q21.1	1q21.1	614000	NBPF10	Neuroblastoma breakpoint family, member 10	NBPF10	100132406	ENSG00000271425			
chr1	146148865	146229021	1q21.1	1q21.1	618023	NOTCH2NLA	NOTCH2 N-terminal-like protein A	NOTCH2NLA	388677	ENSG00000264343			
chr1	146486332	146822034	1q21.1	1q21.1	610813	HYDIN2, KIAA1864	HYDIN axonemal central pair apparatus protein 2	HYDIN2	100288805		duplicated copy 16q22.2		
chr1	146938324	146996198	1q21.1	1q21.1	608607	NBPF12, COAS1, KIAA1245	Neuroblastoma breakpoint family, member 12	NBPF12	149013	ENSG00000268043			
chr1	147155106	147172470	1q21.1	1q21.1	602741	PRKAB2	Protein kinase, AMP-activated, noncatalytic, beta-2	PRKAB2	5565	ENSG00000131791			Prkab2 (MGI:1336185)
chr1	147172747	147295762	1q21	1q21.1	613039	CHD1L, ALC1	Chromodomain helicase DNA-binding protein 1-like	CHD1L	9557	ENSG00000131778			Chd1l (MGI:1915308)
chr1	147184305	147227284	1q21.1	1q21.1	603957	FMO5	Flavin-containing monooxygenase 5	FMO5	2330	ENSG00000131781			Fmo5 (MGI:1310004)
chr1	147541501	147626216	1q21	1q21.2	602597	BCL9	B-cell CLL/lymphoma-9	BCL9	607	ENSG00000116128			Bcl9 (MGI:1924828)
chr1	147629658	147670524	1q21	1q21.2	611471	ACP6, LPAP, ACPL1	Acid phosphatase 6, lysophosphatide	ACP6	51205	ENSG00000162836			Acp6 (MGI:1931010)
chr1	147756199	147773351	1q21.2	1q21.2	121013	GJA5, CX40, ATFB11	Gap junction protein, alpha-5, 40kD (connexin 40)	GJA5	2702	ENSG00000265107		Atrial fibrillation, familial, 11, 614049 (3), Autosomal dominant; Atrial standstill, digenic (GJA5/SCN5A), 108770 (3), Autosomal dominant	Gja5 (MGI:95716)
chr1	147902795	147914486	1q21.1	1q21.2	600897	GJA8, CX50, CTRCT1, CZP1, CAE1	Gap junction membrane channel protein alpha-8 (connexin 50)	GJA8	2703	ENSG00000121634		Cataract 1, multiple types, 116200 (3), Autosomal dominant	Gja8 (MGI:99953)
chr1	147928420	148025934	1q21.1	1q21.2	612806	GPR89B, GPHR	G protein-coupled receptor 89B	GPR89B	51463	ENSG00000188092			Gpr89 (MGI:1914799)
chr1	148102151	148152281	1q21.1	1q21.2	614001	NBPF11	Neuroblastoma breakpoint family, member 11	NBPF11	200030	ENSG00000263956			
chr1	148531385	148596011	1q21.1	1q21.2	614003	NBPF14	Neuroblastoma breakpoint, member 14	NBPF14	25832	ENSG00000270629			
chr1	148600285	148712538	1q21.1	1q21.2	618024	NOTCH2NLB	NOTCH2 N-terminal-like protein B	NOTCH2NLB	100996763	ENSG00000286019			
chr1	148808434	149033016	1q21.1	1q21.2	608117	PDE4DIP, MMGL, KIAA0454, KIAA0477	Phosphodiesterase 4D-interacting protein	PDE4DIP	9659	ENSG00000178104			Pde4dip (MGI:1891434)
chr1	149052186	149103551	1q21.1	1q21.2	613999	NBPF9	Neuroblastoma breakpoint family, member 9	NBPF9	400818	ENSG00000269713			
chr1	149390621	149471833	1q21.1	1q21.2	618025	NOTCH2NLC, NIID, ETM6, OPDM3	NOTCH2 N-terminal-like protein C	NOTCH2NLC	100996717	ENSG00000286219		Tremor, hereditary essential, 6, 618866 (3), Autosomal dominant; Oculopharyngodistal myopathy 3, 619473 (3), Autosomal dominant; Neuronal intranuclear inclusion disease, 603472 (3), Autosomal dominant	
chr1	149475045	149556361	1q21.1	1q21.2	614006	NBPF19	Neuroblastoma breakpoint family, member 19	NBPF19	101060226	ENSG00000271383			
chr1	149782694	149800609	1q21.2-q21.3	1q21.2	146760	FCGR1A, IGFR1, CD64	Fc fragment of IgG receptor Ia	FCGR1A	2209	ENSG00000150337		[IgG receptor I, phagocytic, familial deficiency of] (3)	Fcgr1 (MGI:95498)
chr1	149832657	149833052	1q21	1q21.2	142750	H4C14, H4FN, H4F2	H4 clustered histone 14	H4C14	8370	ENSG00000270882	100-200 histone genes; some on chromosome 6 and 12, as well as perhaps 7		H4c2 (MGI:2448420)
chr1	149840687	149841208	1q21	1q21.2	142780	H3C14, HIST2H3C, H3F2	H3 clustered histone 14	H3C14	126961	ENSG00000203811			H3c13,H3c14,H3c15,H3c2,H3c3,H3c4,H3c6,H3c7,H3f3c (MGI:2448319,MGI:2448320,MGI:2448322,MGI:2448326,MGI:2448329,MGI:2448351,MGI:2448355,MGI:2448357,MGI:3650546)
chr1	149842218	149842750	1q21	1q21.2	142720	H2AC18, HIST2H2AA, H2AFO, H2A	H2A clustered histone 18	H2AC18	8337	ENSG00000288825			H2ac18,H2ac19 (MGI:2448283,MGI:96097)
chr1	149884459	149886682	1q21-q23	1q21.2	601831	H2BC21, HIST2H2BE, H2B	H2B clustered histone 21	H2BC21	8349	ENSG00000184678			
chr1	149886918	149887411	1q21-q23	1q21.2	602797	H2AC20, HIST2H2AC, H2AFQ	H2A clustered histone 20	H2AC20	8338	ENSG00000184260			H2ac20 (MGI:2448316)
chr1	149887469	149887965	1q21	1q21.2	615014	H2AC21, HIST2H2AB, H2AB	H2A clustered histone 21	H2AC21	317772	ENSG00000184270			H2ac21 (MGI:2448314)
chr1	149899568	149900795	1q21.2	1q21.2	613181	BOLA1	bolA family member 1	BOLA1	51027	ENSG00000178096			Bola1 (MGI:1916418)
chr1	149903318	149917844	1q21.2	1q21.2	185860	SV2A, SV2, DEE113	Synaptic vesicle glycoprotein 2A	SV2A	9900	ENSG00000159164		Developmental and epileptic encephalopathy 113, 620772 (3), Autosomal recessive	Sv2a (MGI:1927139)
chr1	149923317	149927803	1q21.2	1q21.2	605593	SF3B4, SF3B49, SAP49, AFD1	Splicing factor 3B, subunit 4	SF3B4	10262	ENSG00000143368		Acrofacial dysostosis 1, Nager type, 154400 (3), Autosomal dominant	Sf3b4 (MGI:109580)
chr1	149937812	150067653	1q21.2	1q21.2	611748	OTUD7B, CEZANNE	OTU domain-containing protein 7B	OTUD7B	56957	ENSG00000264522			Otud7b (MGI:2654703)
chr1	150067382	150145329	1q21-q22	1q21.2	610035	VPS45, VPS45A, SCN5	Vacuolar protein sorting 45 homolog	VPS45	11311	ENSG00000136631		Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3), Autosomal recessive	Vps45 (MGI:891965)
chr1	150149646	150160065	1q21.2	1q21.2	608335	PLEKHO1, CKIP1	Pleckstrin homology domain-containing protein, family O, member 1	PLEKHO1	51177	ENSG00000023902			Plekho1 (MGI:1914470)
chr1	150218417	150236112	1q22	1q21.2	609611	ANP32E, LANPL	Acidic leucine-rich nuclear phosphoprotein 32 family, member E	ANP32E	81611	ENSG00000143401			Anp32e (MGI:1913721)
chr1	150257774	150265078	1q21	1q21.2	604832	CA14	Carbonic anhydrase XIV	CA14	23632	ENSG00000118298			Car14 (MGI:1344341)
chr1	150265404	150269016	1p36.13-q31.3	1q21.2	607629	APH1A	APH1 homolog A, gamma secretase subunit	APH1A	51107	ENSG00000117362			Aph1a (MGI:2385110)
chr1	150282554	150287093	1q21.2	1q21.2	615782	CIART, CHRONO, GM129	Circadian-associated repressor of transcription	CIART	148523	ENSG00000159208			Ciart (MGI:2684975)
chr1	150293861	150308979	1q21	1q21.2	611984	MRPS21	Mitochondrial ribosomal protein S21	MRPS21	54460	ENSG00000266472	9 pseudogenes		Mrps21 (MGI:1913542)
chr1	150321468	150353233	1q21.2	1q21.2	607301	PRPF3, HPRP3, RP18	Pre-mRNA processing factor 3	PRPF3	9129	ENSG00000117360		Retinitis pigmentosa 18, 601414 (3), Autosomal dominant	Prpf3 (MGI:1918017)
chr1	150364147	150476566	1q21.3	1q21.2	614695	RPRD2	Regulation of nuclear pre-mRNA domain-containing 2	RPRD2	23248	ENSG00000163125			Rprd2 (MGI:1922387)
chr1	150487419	150507602	1q21.2	1q21.2	612805	TARS2, COXPD21	Threonyl-tRNA synthetase 2	TARS2	80222	ENSG00000143374		Combined oxidative phosphorylation deficiency 21, 615918 (3), Autosomal recessive	Tars2 (MGI:1919057)
chr1	150508109	150513789	1q21	1q21.2	602201	ECM1, URBWD	Extracellular matrix protein-1	ECM1	1893	ENSG00000143369		Urbach-Wiethe disease, 247100 (3), Autosomal recessive	Ecm1 (MGI:103060)
chr1	150515752	150536788	1q21.2	1q21.2	616092	FALEC, FAL1	Focally amplified long noncoding RNA in epithelial cancer	FALEC	100874054	ENSG00000228126			
chr1	150549408	150560937	1q21	1q21.2	610113	ADAMTSL4, TSRC1, ECTOL2	ADAMTS-like 4	ADAMTSL4	54507	ENSG00000143382		Ectopia lentis et pupillae, 225200 (3), Autosomal recessive; Ectopia lentis, isolated, autosomal recessive, 225100 (3), Autosomal recessive	Adamtsl4 (MGI:2389008)
chr1	150574558	150579610	1q21	1q21.2	159552	MCL1	Myeloid cell leukemia sequence 1 (BCL2-related)	MCL1	4170	ENSG00000143384			Mcl1 (MGI:101769)
chr1	150600001	155100000	1q21.3		139450	HRM2	Hair morphology 2 (curly hair)		100379199		associated with rs11803731	Hair, curly, 139450 (2), Autosomal dominant	
chr1	150621246	150629612	1q21.2	1q21.3	603061	ENSA	Endosulfine, alpha	ENSA	2029	ENSG00000143420			Ensa (MGI:1891189)
chr1	150646230	150697154	1q21.2	1q21.3	612208	GOLPH3L, GPP34R	Golgi phosphoprotein 3-like	GOLPH3L	55204	ENSG00000143457			Golph3l (MGI:1917129)
chr1	150698060	150720895	1q21.3	1q21.3	609824	HORMAD1, NOHMA	HORMA domain-containing 1	HORMAD1	84072	ENSG00000143452			Hormad1 (MGI:1915231)
chr1	150730188	150765778	1q21	1q21.3	116845	CTSS	Cathepsin S	CTSS	1520	ENSG00000163131			Ctss (MGI:107341)
chr1	150796208	150808260	1q21	1q21.3	601105	CTSK	Cathepsin K	CTSK	1513	ENSG00000143387		Pycnodysostosis, 265800 (3), Autosomal recessive	Ctsk (MGI:107823)
chr1	150809713	150876599	1q21	1q21.3	126110	ARNT	Aryl hydrocarbon receptor nuclear translocator	ARNT	405	ENSG00000143437			Arnt (MGI:88071)
chr1	150926263	150964737	1q21	1q21.3	604396	SETDB1	SET domain protein, bifurcated, 1	SETDB1	9869	ENSG00000143379			Setdb1 (MGI:1934229)
chr1	150965186	150974835	1q21.3	1q21.3	606920	CERS2, LASS2	Ceramide synthase 2	CERS2	29956	ENSG00000143418			Cers2 (MGI:1924143)
chr1	150977306	150995634	1q21	1q21.3	603319	ANXA9, ANX31	Annexin A9 (annexin XXXI)	ANXA9	8416	ENSG00000143412			Anxa9 (MGI:1923711)
chr1	150996536	151008393	1q21.3	1q21.3	618407	MINDY1, FAM63A	MINDY lysine-48 deubiquitinase 1	MINDY1	55793	ENSG00000143409			Mindy1 (MGI:1922257)
chr1	151008449	151035713	1q21.3	1q21.3	617413	PRUNE1, DRES17, NMIHBA	Prune exopolyphosphatase 1	PRUNE1	58497	ENSG00000143363		Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive	Prune1 (MGI:1925152)
chr1	151036586	151047720	1q21.3	1q21.3	611275	BNIPL, BNIPS, BNIPL1, BNIPL2	BCL2/adenovirus E1B 19kD protein-interacting protein 2-like	BNIPL	149428	ENSG00000163141			Bnipl (MGI:2384749)
chr1	151050985	151059622	1q21.3	1q21.3	619456	CDC42SE1, SPEC1	CDC42 small effector 1	CDC42SE1	56882	ENSG00000197622			Cdc42se1 (MGI:1889510)
chr1	151060397	151069544	1q21	1q21.3	604684	MLLT11, AF1Q	Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 11	MLLT11	10962	ENSG00000213190			Mllt11 (MGI:1929671)
chr1	151131685	151146631	1q21.3	1q21.3	609294	SEMA6C, KIAA1869	Semaphorin 6C	SEMA6C	10500	ENSG00000143434			Sema6c (MGI:1338032)
chr1	151156649	151159749	1q21.2-q21.3	1q21.3	612112	TNFAIP8L2, TIPE2	Tumor necrosis factor-alpha-induced protein 8-like 2	TNFAIP8L2	79626	ENSG00000163154			Tnfaip8l2 (MGI:1917019)
chr1	151166144	151170296	1q21.3	1q21.3	608095	SCNM1, MGC3180, OFD19	Sodium channel modifier 1	SCNM1	79005	ENSG00000163156		Orofaciodigital syndrome XIX, 620107 (3), Autosomal recessive	Scnm1 (MGI:1341284)
chr1	151169987	151175981	1q12	1q21.3	605834	TMOD4	Tropomodulin 4, muscle	TMOD4	29765	ENSG00000163157			Tmod4 (MGI:1355285)
chr1	151176304	151190197	1q21	1q21.3	600607	VPS72, CFL1, YL1	Vacuolar protein sorting 72 homolog	VPS72	6944	ENSG00000163159			Vps72 (MGI:1202305)
chr1	151195419	151249531	1q22-q24	1q21.3	603275	PIP5K1A	Phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	PIP5K1A	8394	ENSG00000143398			Pip5k1a (MGI:107929)
chr1	151254734	151267479	1q21.3	1q21.3	601648	PSMD4, S5A, RPN10	Proteasome 26S subunit, non-ATPase, 4	PSMD4	5710	ENSG00000159352			Psmd4 (MGI:1201670)
chr1	151281522	151292176	1q21.2	1q21.3	610568	ZNF687, KIAA1441, PDB6	Zinc finger protein 687	ZNF687	57592	ENSG00000143373	fused with AML1 in t(1;21)	Paget disease of bone 6, 616833 (3), Autosomal dominant	Zfp687 (MGI:1925516)
chr1	151291797	151327715	1q21.1-q21.3	1q21.3	602758	PI4KB, PIK4CB, DFNA87	Phosphatidylinositol 4-kinase, beta	PI4KB	5298	ENSG00000143393		Deafness, autosomal dominant 87, 620281 (3), Autosomal dominant	Pi4kb (MGI:1334433)
chr1	151340640	151347252	1q21.1-q21.3	1q21.3	601863	RFX5, MHC2D3, MHC2D5	Regulatory factor X, 5 (influences HLA class II expression)	RFX5	5993	ENSG00000143390	mutation identified in 1 MHC2D5 family	?MHC class II deficiency 5, 620818 (3), Autosomal recessive; MHC class II deficiency 3, 620816 (3), Autosomal recessive	Rfx5 (MGI:1858421)
chr1	151364304	151372705	1q21-q22	1q21.3	604188	SELENBP1, SP56, EHMTO	Selenium-binding protein 1	SELENBP1	8991	ENSG00000143416		Extraoral halitosis due to MTO deficiency, 618148 (3), Autosomal recessive	Selenbp1,Selenbp2 (MGI:104859,MGI:96825)
chr1	151399573	151401937	1q21	1q21.3	602177	PSMB4, PRAAS3	Proteasome subunit, beta type, 4	PSMB4	5692	ENSG00000159377	mutation identified in 1 PRAAS3 patient and 1 digenic family	?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3), Autosomal recessive	Psmb4 (MGI:1098257)
chr1	151402724	151459494	1q21.3	1q21.3	614787	POGZ, KIAA0461, MRD37, WHSUS	POGO transposable-element derived protein with ZNF domain	POGZ	23126	ENSG00000143442		White-Sutton syndrome, 616364 (3), Autosomal dominant	Pogz (MGI:2442117)
chr1	151510170	151538692	1q21.3	1q21.3	609473	CGN, KIAA1319	Cingulin	CGN	57530	ENSG00000143375			Cgn (MGI:1927237)
chr1	151540309	151583583	1q21	1q21.3	600087	TUFT1, WHSF	Tuftelin 1	TUFT1	7286	ENSG00000143367		Woolly hair-skin fragility syndrome, 620415 (3), Autosomal recessive	Tuft1 (MGI:109572)
chr1	151612050	151699080	1q21.3	1q21.3	611541	SNX27, MRT1	Sorting nexin 27	SNX27	81609	ENSG00000143376			Snx27 (MGI:1923992)
chr1	151700058	151716803	1q21	1q21.3	612678	CELF3, TNRC4, BRUNOL1	CUGbp- and ELAV-like family, member 3	CELF3	11189	ENSG00000159409			Celf3 (MGI:1926034)
chr1	151759647	151763496	1q21	1q21.3	611824	MRPL9	Mitochondrial ribosomal protein L9	MRPL9	65005	ENSG00000143436			Mrpl9 (MGI:2137211)
chr1	151762969	151771330	1q21.3	1q21.3	605138	OAZ3, AZ3	Ornithine decarboxylase antizyme 3	OAZ3	51686	ENSG00000143450			Oaz3 (MGI:1858170)
chr1	151766486	151790534	1q21.3	1q21.3	609501	TDRKH	Tudor and KH domains-containing protein	TDRKH	11022	ENSG00000182134			Tdrkh (MGI:1919884)
chr1	151800264	151805419	1q21.3	1q21.3	609794	LINGO4, LRRN6D	Leucine-rich repeat- and Ig domain-containing NOGO receptor-interacting protein 4	LINGO4	339398	ENSG00000213171			Lingo4 (MGI:2444651)
chr1	151806071	151831802	1q21	1q21.3	602943	RORC, RORG, RZRG, IMD42	RAR-related orphan receptor C	RORC	6097	ENSG00000143365		Immunodeficiency 42, 616622 (3), Autosomal recessive	Rorc (MGI:104856)
chr1	151847101	151853712	1q21.3	1q21.3	615653	THEM5, ACOT15	Thioesterase superfamily member 5	THEM5	284486	ENSG00000196407			Them5 (MGI:1913448)
chr1	151870866	151909511	1q21	1q21.3	606388	CTMP	C-terminal modulator protein	THEM4	117145	ENSG00000159445			Them4 (MGI:1923028)
chr1	151982915	151993859	1q21	1q21.3	114085	S100A10, CAL1L	S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))	S100A10	6281	ENSG00000197747	on chr.3 in mouse		S100a10 (MGI:1339468)
chr1	152032506	152037004	1q21	1q21.3	603114	S100A11	S100 calcium-binding protein A11	S100A11	6282	ENSG00000163191			S100a11,S100a11-ps (MGI:1338798,MGI:3645720)
chr1	152106317	152115444	1q21.3	1q21.3	190370	TCHH, THH, THL, TRHY, UHS3	Trichohyalin	TCHH	7062	ENSG00000159450	mutation identified in 1 UHS3 patient	?Uncombable hair syndrome 3, 617252 (3), Autosomal recessive	Tchh (MGI:2177944)
chr1	152153595	152159228	1q21	1q21.3	613259	RPTN	Repetin	RPTN	126638	ENSG00000215853			Rptn (MGI:1099055)
chr1	152212076	152224193	1q21.3	1q21.3	616293	HRNR	Hornerin	HRNR	388697	ENSG00000197915			Hrnr (MGI:3046938)
chr1	152302165	152325239	1q21	1q21.3	135940	FLG, ATOD2	Filaggrin	FLG	2312	ENSG00000143631		Ichthyosis vulgaris, 146700 (3), Autosomal recessive, Autosomal dominant; {Dermatitis, atopic, susceptibility to, 2}, 605803 (3), Autosomal dominant	
chr1	152348735	152360006	1q21.3	1q21.3	616284	FLG2, IFPS, PSS6	Filaggrin family, member 2	FLG2	388698	ENSG00000143520		Peeling skin syndrome 6, 618084 (3), Autosomal recessive	Flg2 (MGI:3645678)
chr1	152409243	152414263	1q21.3	1q21.3	611312	CRNN, C1orf10, PDRC1	Cornulin	CRNN	49860	ENSG00000143536			Crnn (MGI:2685861)
chr1	152510803	152512177	1q21	1q21.3	612619	LCE5A, LEP18	Late cornified envelope protein 5A	LCE5A	254910	ENSG00000186207			Lce1e (MGI:1915944)
chr1	152514482	152516008	1q21.3	1q21.3	617426	CRCT1, NICE1, C1orf42	Cysteine-rich c-terminal 1	CRCT1	54544	ENSG00000169509			Crct1 (MGI:1921425)
chr1	152565654	152566780	1q21	1q21.3	612617	LCE3E, LEP17	Late cornified envelope protein 3E	LCE3E	353145	ENSG00000185966			Lce3a,Lce3b,Lce3c,Lce3f (MGI:1913594,MGI:1916770,MGI:2135932,MGI:3645650)
chr1	152579381	152580516	1q21	1q21.3	612616	LCE3D, LEP16	Late cornified envelope protein 3D	LCE3D	84648	ENSG00000163202	within intron 2 of LCE3C		Lce3a,Lce3b,Lce3c,Lce3d,Lce3e,Lce3f (MGI:1913594,MGI:1916764,MGI:1916770,MGI:2135932,MGI:3642919,MGI:3645650)
chr1	152600234	152601086	1q21	1q21.3	612615	LCE3C, LEP15	Late cornified envelope protein 3C	LCE3C	353144	ENSG00000244057			Lce3a,Lce3b,Lce3c,Lce3d,Lce3e,Lce3f (MGI:1913594,MGI:1916764,MGI:1916770,MGI:2135932,MGI:3642919,MGI:3645650)
chr1	152613811	152614098	1q21	1q21.3	612614	LCE3B, LEP14	Late cornified envelope protein 3B	LCE3B	353143	ENSG00000187238			Lce3a,Lce3b,Lce3c,Lce3d,Lce3e,Lce3f (MGI:1913594,MGI:1916764,MGI:1916770,MGI:2135932,MGI:3642919,MGI:3645650)
chr1	152622834	152623103	1q21	1q21.3	612613	LCE3A, LEP13	Late cornified envelope protein 3A	LCE3A	353142	ENSG00000185962			
chr1	152663380	152664659	1q21	1q21.3	612612	LCE2D, LEP12	Late cornified envelope protein 2D	LCE2D	353141	ENSG00000187223			Lce1b,Lce1e (MGI:1915944,MGI:1915970)
chr1	152675279	152676569	1q21	1q21.3	612611	LCE2C, LEP11	Late cornified envelope protein 2C	LCE2C	353140	ENSG00000187180			Lce1e (MGI:1915944)
chr1	152686123	152687397	1q21	1q21.3	612610	LCE2B, LEP10, XP5	Late cornified envelope protein 2B	LCE2B	26239	ENSG00000159455			
chr1	152698345	152699442	1q21	1q21.3	612609	LCE2A, LEP9	Late cornified envelope protein 2A	LCE2A	353139	ENSG00000187173			Lce1e (MGI:1915944)
chr1	152708160	152709434	1q21	1q21.3	612618	LCE4A, LEP8	Late cornified envelope protein 4A	LCE4A	199834	ENSG00000187170			
chr1	152758025	152762056	1q21	1q21.3	613260	KPRP	Keratinocyte proline-rich protein	KPRP	448834	ENSG00000203786			Kprp (MGI:1920981)
chr1	152775140	152777024	1q21	1q21.3	612608	LCE1F, LEP6	Late cornified envelope protein 1F	LCE1F	353137	ENSG00000240386			Lce1f,Lce1g,Lce1l (MGI:1913445,MGI:1915078,MGI:1920980)
chr1	152786257	152788426	1q21	1q21.3	612607	LCE1E	Late cornified envelope protein 1E	LCE1E	353135	ENSG00000186226			Lce1f,Lce1g,Lce1l (MGI:1913445,MGI:1915078,MGI:1920980)
chr1	152796721	152798181	1q21	1q21.3	612606	LCE1D, LEP4	Late cornified envelope protein 1D	LCE1D	353134	ENSG00000172155			
chr1	152804832	152806651	1q21	1q21.3	612605	LCE1C, LEP3	Late cornified envelope 1C	LCE1C	353133	ENSG00000197084			Lce1f,Lce1g,Lce1l (MGI:1913445,MGI:1915078,MGI:1920980)
chr1	152811971	152813108	1q21	1q21.3	612604	LCE1B, LEP2	Late cornified envelope protein 1B	LCE1B	353132	ENSG00000196734			Lce1f,Lce1g,Lce1l (MGI:1913445,MGI:1915078,MGI:1920980)
chr1	152827473	152828097	1q21	1q21.3	612603	LCE1A, LEP1	Late cornified envelope protein 1A	LCE1A	353131	ENSG00000186844			Lce1f,Lce1g,Lce1l (MGI:1913445,MGI:1915078,MGI:1920980)
chr1	152878322	152885047	1q21	1q21.3	601148	SMCP, MCSP, MCS	Sperm mitochondria-associated cysteine-rich protein	SMCP	4184	ENSG00000163206			Smcp (MGI:96945)
chr1	152908546	152911886	1q21	1q21.3	147360	IVL	Involucrin	IVL	3713	ENSG00000163207			Ivl (MGI:96626)
chr1	152968750	152972574	1q21	1q21.3	616363	SPRR4	Small proline-rich protein 4	SPRR4	163778	ENSG00000184148			Sprr4 (MGI:2654508)
chr1	152984081	152985814	1q21-q22	1q21.3	182265	SPRR1A	Small proline-rich protein 1A	SPRR1A	6698	ENSG00000169474			Sprr1a (MGI:106660)
chr1	153001749	153003856	1q21-q22	1q21.3	182271	SPRR3	Small proline-rich protein 3	SPRR3	6707	ENSG00000163209			Sprr1b,Sprr3 (MGI:106659,MGI:1330237)
chr1	153031203	153032900	1q21-q22	1q21.3	182266	SPRR1B	Small proline-rich protein 1B	SPRR1B	6699	ENSG00000169469			Sprr1b (MGI:106659)
chr1	153039732	153041120	1q21.3	1q21.3	617587	SPRR2D	Small proline-rich protein 2D	SPRR2D	6703	ENSG00000163216			Sprr2d,Sprr2e,Sprr2g,Sprr2i (MGI:1330309,MGI:1330346,MGI:1330347,MGI:1330348)
chr1	153056120	153057512	1q21-q22	1q21.3	182267	SPRR2A	Small proline-rich protein 2A	SPRR2A	6700	ENSG00000241794	about 7 SPRR2 genes		Sprr2d,Sprr2e,Sprr2g,Sprr2i (MGI:1330309,MGI:1330346,MGI:1330347,MGI:1330348)
chr1	153070226	153087799	1q21-q22	1q21.3	182268	SPRR2B	Small proline-rich protein 2B	SPRR2B	6701	ENSG00000196805			Sprr2d,Sprr2e,Sprr2g,Sprr2i (MGI:1330309,MGI:1330346,MGI:1330347,MGI:1330348)
chr1	153093135	153094526	1q21.3	1q21.3	617588	SPRR2E	Small proline-rich protein 2E	SPRR2E	6704	ENSG00000203785			Sprr2d,Sprr2e,Sprr2g,Sprr2i (MGI:1330309,MGI:1330346,MGI:1330347,MGI:1330348)
chr1	153112121	153119468	1q21.3	1q21.3	617589	SPRR2F	Small proline-rich protein 2F	SPRR2F	6705	ENSG00000244094			Sprr2d,Sprr2e,Sprr2g,Sprr2i (MGI:1330309,MGI:1330346,MGI:1330347,MGI:1330348)
chr1	153149582	153203278	1q21.3	1q21.3	617590	SPRR2G	Small proline-rich protein 2G	SPRR2G	6706	ENSG00000159516			
chr1	153203430	153205120	1q21	1q21.3	611042	LELP1	Late cornified envelope-like proline-rich 1	LELP1	149018	ENSG00000203784			Lelp1 (MGI:1916582)
chr1	153259687	153262124	1q21	1q21.3	152445	LOR	Loricrin	LORICRIN	4014	ENSG00000203782		Vohwinkel syndrome with ichthyosis, 604117 (3), Autosomal dominant	Loricrin (MGI:96816)
chr1	153297116	153312952	1q21	1q21.3	608197	PGRPIA	Peptidoglycan recognition protein, intermediate, alpha	PGLYRP3	114771	ENSG00000159527			Pglyrp3 (MGI:2685266)
chr1	153330120	153348841	1q21	1q21.3	608198	PGRPIB	Peptidoglycan recognition protein, intermediate, beta	PGLYRP4	57115	ENSG00000163218			Pglyrp4 (MGI:2686324)
chr1	153357854	153361023	1q12-q22	1q21.3	123886	S100A9, CAGB, CFAG	S100 calcium-binding protein A9 (calgranulin B)	S100A9	6280	ENSG00000163220			S100a9 (MGI:1338947)
chr1	153373711	153375621	1q21	1q21.3	603112	S100A12, CAAF1, CGRP	S100 calcium-binding protein A12	S100A12	6283	ENSG00000163221	between S100A8 and S100A9		
chr1	153390032	153422583	1q21	1q21.3	123885	S100A8, CAGA, CFAG	S100 calcium-binding protein A8 (calgranulin A)	S100A8	6279	ENSG00000143546	over-expressed in 1q21-linked psoriasis		S100a8 (MGI:88244)
chr1	153416520	153423222	1q21.3	1q21.3	617427	S100A7A, S100A15, NICE2	S100 calcium-binding protein A7A	S100A7A	338324	ENSG00000184330			S100a7a (MGI:2687194)
chr1	153457744	153460651	1q21	1q21.3	600353	S100A7	S100 calcium-binding protein A7	S100A7	6278	ENSG00000143556			S100a7a (MGI:2687194)
chr1	153534599	153535991	1q21	1q21.3	114110	S100A6, CACY	S100 calcium-binding protein A6 (calcyclin)	S100A6	6277	ENSG00000197956			S100a6 (MGI:1339467)
chr1	153537147	153543685	1q21	1q21.3	176991	S100A5, S100D	S100 calcium-binding protein A5	S100A5	6276	ENSG00000196420			S100a5 (MGI:1338915)
chr1	153543621	153545806	1q21	1q21.3	114210	S100A4, CAPL	S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)	S100A4	6275	ENSG00000196154			S100a4 (MGI:1330282)
chr1	153547329	153549258	1q21	1q21.3	176992	S100A3, S100E	S100 calcium-binding protein A3	S100A3	6274	ENSG00000188015			S100a3 (MGI:1338849)
chr1	153561108	153565844	1q21	1q21.3	176993	S100A2, S100L	S100 calcium-binding protein A2	S100A2	6273	ENSG00000196754			S100a2 (MGI:3510999)
chr1	153606883	153613137	1p21.3	1q21.3	617437	S100A16, AAG13	S100 calcium-binding protein A16	S100A16	140576	ENSG00000188643			S100a16 (MGI:1915110)
chr1	153614255	153616325	1q21	1q21.3	607986	S100A14, BCMP84	S100 Calcium-binding protein A14	S100A14	57402	ENSG00000189334			S100a14 (MGI:1913416)
chr1	153618799	153634361	1q21	1q21.3	601989	S100A13	S100 calcium-binding protein A13	S100A13	6284	ENSG00000189171			S100a13 (MGI:109581)
chr1	153628434	153632039	1q21	1q21.3	176940	S100A1	S100 protein, alpha polypeptide	S100A1	6271	ENSG00000160678			S100a1 (MGI:1338917)
chr1	153634066	153646306	1q21.3	1q21.3	614206	CHTOP, C10orf77, SRAG, FOP	Chromatin target of PRMT1	CHTOP	26097	ENSG00000160679			Chtop (MGI:1913761)
chr1	153658654	153661852	1q22	1q21.3	607007	SNAPIN, SNAPAP, BLOC1S7, BLOS7	SNAP-associated protein	SNAPIN	23557	ENSG00000143553			Snapin (MGI:1333745)
chr1	153661788	153670993	1q21.3	1q21.3	603181	ILF2, NF45	Interleukin enhancer-binding factor 2	ILF2	3608	ENSG00000143621			Ilf2 (MGI:1915031)
chr1	153678688	153693992	1q21-q22	1q21.3	108960	NPR1, ANPRA	Natriuretic peptide receptor A/guanylate cyclase A	NPR1	4881	ENSG00000169418			Npr1 (MGI:97371)
chr1	153728050	153774808	1q21.3	1q21.3	611347	INTS3, INT3, SOSSA	Integrator complex subunit 3	INTS3	65123	ENSG00000143624			Ints3 (MGI:2140050)
chr1	153775407	153780157	1q21.3	1q21.3	604193	SLC27A3, FATP3	Solute carrier family 27 (fatty acid transporter), member 3	SLC27A3	11000	ENSG00000143554			Slc27a3 (MGI:1347358)
chr1	153804725	153922972	1q23.1	1q21.3	614998	GATAD2B, KIAA1150, p68, GANDS	GATA zinc finger domain-containing protein 2B	GATAD2B	57459	ENSG00000143614		GAND syndrome, 615074 (3), Autosomal dominant	Gatad2b (MGI:2443225)
chr1	153929501	153946894	1q21.3	1q21.3	619843	DENND4B	DENN domain-containing protein 4B	DENND4B	9909	ENSG00000198837			Dennd4b (MGI:2446201)
chr1	153947675	153958612	1q21.3	1q21.3	608972	CRTC2, TORC2	CREB-regulated transcription coactivator 2	CRTC2	200186	ENSG00000160741			Crtc2 (MGI:1921593)
chr1	153959110	153968184	1q21	1q21.3	604740	SLC39A1, ZIRTL	Solute carrier family 39 (zinc transporter), member 3 (zinc/iron-regulated transporter-like)	SLC39A1	27173	ENSG00000143570	REc		Slc39a1 (MGI:1353474)
chr1	153967487	153974359	1q21.3	1q21.3	607138	CREB3L4, CREB4, AIBZIP	cAMP responsive element binding protein 3-like 4	CREB3L4	148327	ENSG00000143578			Creb3l4 (MGI:1916603)
chr1	153974269	153977674	1q21	1q21.3	604671	JTB, PAR	Jumping translocation breakpoint	JTB	10899	ENSG00000143543			Jtb (MGI:1346082)
chr1	153981650	153990708	1q21.3	1q21.3	602672	RAB13	RAB13, member RAS oncogene family	RAB13	5872	ENSG00000143545	previously assigned to 12q13 by in situ hybridization		Rab13 (MGI:1927232)
chr1	153990762	153992155	1q21	1q21.3	603702	RPS27, MPS1, DBA17	Ribosomal protein S27	RPS27	6232	ENSG00000177954	mutation identified in 1 DBA17 patient	?Diamond-Blackfan anemia 17, 617409 (3), Autosomal dominant	Rps27,Rps27rt (MGI:1888676,MGI:3704345)
chr1	153992690	154155116	1q21.3	1q21.3	621033	NUP210L, SPGF97	NUP210-like protein	NUP210L	91181	ENSG00000143552	mutation identified in 1 SPGF97 patient	?Spermatogenic failure 97, 621057 (3), Autosomal recessive	Nup210l (MGI:1924845)
chr1	154155308	154192100	1q22-q23	1q21.3	191030	TPM3, NEM1, CMYO4A, CMYO4B	Tropomyosin 3	TPM3	7170	ENSG00000143549		Congenital myopathy 4A, autosomal dominant, 255310 (3), Autosomal dominant; Congenital myopathy 4B, autosomal recessive, 609284 (3), Autosomal recessive	Tpm3 (MGI:1890149)
chr1	154206720	154220590	1q21.3	1q21.3	617428	C1orf43, NS5ATP4, NICE3	Chromosome 1 open reading frame 43	C1orf43	25912	ENSG00000143612			4933434E20Rik (MGI:1914027)
chr1	154220172	154271510	1q21.3	1q21.3	616472	UBAP2L, NICE4, NEDLBF	Ubiquitin-associated protein 2-like	UBAP2L	9898	ENSG00000143569		Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, 620494 (3), Autosomal dominant	Ubap2l (MGI:1921633)
chr1	154272629	154275875	1q21.3	1q21.3	605998	HAX1, SCN3	HCLS1-associated protein X1	HAX1	10456	ENSG00000143575		Neutropenia, severe congenital 3, autosomal recessive, 610738 (3), Autosomal recessive	Hax1 (MGI:1346319)
chr1	154321093	154325325	1q21.3	1q21.3	606578	AQP10	Aquaporin 10	AQP10	89872	ENSG00000143595			
chr1	154325525	154351304	1q21.3	1q21.3	605867	ATP8B2, ATPID	ATPase, class I, type 8B, member 2	ATP8B2	57198	ENSG00000143515			Atp8b2 (MGI:1859660)
chr1	154405343	154469450	1q21.3	1q21.3	147880	IL6R, IL6RQ, IL6QTL, HIES5	Interleukin-6 receptor	IL6R	3570	ENSG00000160712	IL6R-like gene on chr.9	[Interleukin 6, serum level of, QTL], 614752 (3); Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections, 618944 (3), Autosomal recessive; [Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3)	Il6ra (MGI:105304)
chr1	154469637	154502412	1q21.3	1q21.3	610482	SHE	SH2 domain-containing protein E	SHE	126669	ENSG00000169291			She (MGI:1099462)
chr1	154548577	154558662	1q21.3	1q21.3	617429	UBE2Q1, GTAP, NICE5	Ubiquitin-conjugating enzyme E2 Q1	UBE2Q1	55585	ENSG00000160714			Ube2q1 (MGI:1917343)
chr1	154567778	154580013	1q21	1q21.3	118507	CHRNB2, EFNL3	Cholinergic receptor, nicotinic, beta polypeptide-2	CHRNB2	1141	ENSG00000160716	linked to AMY in mouse	Epilepsy, nocturnal frontal lobe, 3, 605375 (3)	Chrnb2 (MGI:87891)
chr1	154582057	154627997	1q21.3	1q21.3	146920	ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6	Adenosine deaminase, RNA-specific	ADAR	103	ENSG00000160710		Dyschromatosis symmetrica hereditaria, 127400 (3), Autosomal dominant; Aicardi-Goutieres syndrome 6, 615010 (3), Autosomal recessive	Adar (MGI:1889575)
chr1	154697455	154870281	1q21.3	1q21.3	602983	KCNN3, SK3, SKCA3, ZLS3	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3	KCNN3	3782	ENSG00000143603		Zimmermann-Laband syndrome 3, 618658 (3), Autosomal dominant	Kcnn3 (MGI:2153183)
chr1	154924740	154942658	1q21.3	1q21.3	607622	PMVK, PMK, POROK1	Phosphomevalonate kinase	PMVK	10654	ENSG00000163344		Porokeratosis 1, multiple types, 175800 (3), Autosomal dominant	Pmvk (MGI:1915853)
chr1	154944080	154956099	1q21.3	1q21.3	618819	PBXIP1, HPIP	PBX homeobox-interacting protein 1	PBXIP1	57326	ENSG00000163346			Pbxip1 (MGI:2441670)
chr1	154957026	154961782	1q21.3	1q21.3	606903	PYGO2	Pygopus family PHD finger 2	PYGO2	90780	ENSG00000163348			Pygo2 (MGI:1916161)
chr1	154962298	154974376	1q21	1q21.3	600560	SHC1	SHC (Src homology 2 domain-containing) transforming protein-1	SHC1	6464	ENSG00000160691			Shc1 (MGI:98296)
chr1	154974681	154979251	1q21.3	1q21.3	116900	CKS1B, CKS1	CDC28 protein kinase 1B	CKS1B	1163	ENSG00000173207	previously to 8q21 by FISH		Cks1b (MGI:1889208)
chr1	154983344	154993111	1q21.3	1q21.3	610595	FLAD1, FADS, LSMFLAD	Flavin adenine dinucleotide synthetase 1	FLAD1	80308	ENSG00000160688		Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive	Flad1 (MGI:2443030)
chr1	154993586	154994321	1q22	1q21.3	607377	LENEP, LEP503	Lens epithelial protein	LENEP	55891	ENSG00000163352			Lenep (MGI:1930020)
chr1	155001750	155018523	1q21.3	1q21.3	607646	ZBTB7B, ZFP67, CKROX, THPOK	Zinc finger- and BTB domain-containing protein 7B	ZBTB7B	51043	ENSG00000160685			Zbtb7b (MGI:102755)
chr1	155018527	155033781	1q21.3	1q21.3	619861	DCST2, SPE42	DCSTAMP domain-containing protein 1	DCST2	127579	ENSG00000163354			Dcst2 (MGI:2685606)
chr1	155033806	155050930	1q21.3	1q21.3	619860	DCST1, SNKY, SPE49	DCSTAMP domain-containing protein 1	DCST1	149095	ENSG00000163357			Dcst1 (MGI:1925022)
chr1	155051316	155062775	1q21.3	1q21.3	605548	ADAM15, MDC15	ADAM metallopeptidase domain 15	ADAM15	8751	ENSG00000143537			Adam15 (MGI:1333882)
chr1	155063740	155069553	1q21-q22	1q21.3	601380	EFNA4, EPLG4	eph-related receptor tyrosine kinase ligand 4 (ephrin-A4)	EFNA4	1945	ENSG00000243364			Efna4 (MGI:106643)
chr1	155078837	155087538	1q21-q22	1q21.3	601381	EFNA3, EPLG3	eph-related receptor tyrosine kinase ligand 3 (ephrin A3)	EFNA3	1944	ENSG00000143590			Efna3 (MGI:106644)
chr1	155127876	155134899	1q21-q22	1q22	191164	EFNA1, EPLG1, TNFAIP4	eph-related receptor tyrosine kinase ligand 1 (tumor necrosis factor, alpha-induced protein 4)	EFNA1	1942	ENSG00000169242			Efna1 (MGI:103236)
chr1	155135375	155138853	1q22	1q22	613683	SLC50A1, RAG1AP1	Solute carrier family 50 (sugar transporter), member 1	SLC50A1	55974	ENSG00000169241			Slc50a1 (MGI:107417)
chr1	155139891	155140531	1q12-q21	1q22	605951	DPM3, MDDGC15, MDDGB15	Dolichyl-phosphate mannosyltransferase 3	DPM3	54344	ENSG00000179085	mutation identified in 1 MDDGB15 patient	?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3), Autosomal recessive	Dpm3 (MGI:1915813)
chr1	155169408	155173304	1q22	1q22	619029	KRTCAP2, KCP2	Keratinocyte-associated protein 2	KRTCAP2	200185	ENSG00000163463			Krtcap2 (MGI:1913309)
chr1	155173849	155184971	1q21	1q22	600986	GENEY	Gene Y	TRIM46	80128	ENSG00000163462			Trim46 (MGI:2673000)
chr1	155185824	155192915	1q21	1q22	158340	MUC1, PUM, ADTKD2	Mucin 1, cell surface associated	MUC1	4582	ENSG00000185499	5cM proximal to SPTA1	Tubulointerstitial kidney disease, autosomal dominant, 2, 174000 (3), Autosomal dominant	Muc1 (MGI:97231)
chr1	155195588	155209178	1q21	1q22	188062	THBS3, TSP3	Thrombospondin 3	THBS3	7059	ENSG00000169231			Thbs3 (MGI:98739)
chr1	155208695	155213839	1q21	1q22	600605	MTX1, MTXN	Metaxin 1	MTX1	4580	ENSG00000173171	between GBA and TSP3		Mtx1 (MGI:103025)
chr1	155234452	155244627	1q21	1q22	606463	GBA1	Glucosylceramidase beta 1	GBA1	2629	ENSG00000177628	pseudogene GBAP ~16kb 3' to GBA	{Lewy body dementia, susceptibility to}, 127750 (3), Autosomal dominant; Gaucher disease, type II, 230900 (3), Autosomal recessive; Gaucher disease, type IIIC, 231005 (3), Autosomal recessive; Gaucher disease, type III, 231000 (3), Autosomal recessive; Gaucher disease, type I, 230800 (3), Autosomal recessive; Gaucher disease, perinatal lethal, 608013 (3), Autosomal recessive; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant	Gba1 (MGI:95665)
chr1	155247205	155255483	1q22	1q22	619447	FAM189B, COTE1	Family with sequence similarity 189, member B	ENTREP3	10712	ENSG00000160767			Entrep3 (MGI:1915771)
chr1	155255981	155262360	1q21	1q22	606913	SCAMP3, PROPIN1	Secretory carrier membrane protein 3	SCAMP3	10067	ENSG00000116521			Scamp3 (MGI:1346346)
chr1	155262868	155273504	1p31	1q22	602989	CLK2	CDC-like kinase 2	CLK2	1196	ENSG00000176444	near GDLD and PRKAA2; conflicting assignment 1q21		Clk2 (MGI:1098669)
chr1	155277463	155289848	1q22	1q22	609973	HCN3, KIAA1535	Hyperpolarization-activated cyclic nucleotide-gated potassium channel 3	HCN3	57657	ENSG00000143630			Hcn3 (MGI:1298211)
chr1	155289293	155308654	1q21	1q22	609712	PKLR, PK1, CNSHA2	Pyruvate kinase, liver and RBC type	PKLR	5313	ENSG00000143627		Anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient, 266200 (3), Autosomal recessive; [Adenosine triphosphate, elevated, of erythrocytes], 102900 (3), Autosomal dominant	Pklr (MGI:97604)
chr1	155308866	155320665	1q22	1q22	134629	FDPS, FPS, POROK9	Farnesyl diphosphate synthase	FDPS	2224	ENSG00000160752		Porokeratosis 9, multiple types, 616631 (3), Autosomal dominant	Fdps (MGI:104888)
chr1	155320894	155331118	1q22	1q22	617318	RUSC1, NESCA	RUN domain- and SH3 domain-containing protein 1	RUSC1	23623	ENSG00000160753			Rusc1 (MGI:1919546)
chr1	155335268	155563202	1q22	1q22	607999	ASH1L, KIAA1420, ASH1, MRD52	ASH1-like histone lysine methyltransferase	ASH1L	55870	ENSG00000116539		Intellectual developmental disorder, autosomal dominant 52, 617796 (3), Autosomal dominant	Ash1l (MGI:2183158)
chr1	155563246	155614967	1q22	1q22	617619	MSTO1, MMYAT	Misato 1, mitochondrial distribution and morphology regulator	MSTO1	55154	ENSG00000125459		Myopathy, mitochondrial, and ataxia, 617675 (3), Autosomal recessive, Autosomal dominant	Msto1 (MGI:2385175)
chr1	155659442	155688996	1q22	1q22	607860	YY1AP1, YAP, HCCA2, GRNG	YY1 associated protein 1	YY1AP1	55249	ENSG00000163374		Grange syndrome, 602531 (3), Autosomal recessive	Gon4l (MGI:1917579)
chr1	155687948	155739010	1q21	1q22	602074	DAP3, PRLTS7	Death associated protein 3	DAP3	7818	ENSG00000132676		Perrault syndrome 7, 621101 (3), Autosomal recessive	Dap3 (MGI:1929538)
chr1	155745112	155859431	1q22	1q22	610393	GON4L, KIAA1606	GON4-like protein	GON4L	54856	ENSG00000116580			Gon4l (MGI:1917579)
chr1	155859567	155885199	1q22	1q22	608741	SYT11, KIAA0080	Synaptotagmin 11	SYT11	23208	ENSG00000132718			Syt11 (MGI:1859547)
chr1	155897808	155911349	1q22	1q22	609591	RIT1, RIT, ROC1, NS8	Ric-like protein without CAAX motif 1	RIT1	6016	ENSG00000143622		Noonan syndrome 8, 615355 (3), Autosomal dominant	Rit1 (MGI:108053)
chr1	155913045	155934413	1q22	1q22	619370	KHDC4, KIAA0907, BLOM7	KH domain-containing protein 4, pre-mRNA splicing factor	KHDC4	22889	ENSG00000132680			Khdc4 (MGI:1921450)
chr1	155941638	155943087	1q22	1q22	609043	RXFP4, RLN3R2, GPR100, GPCR142	Relaxin/insulin-like family peptide receptor 4	RXFP4	339403	ENSG00000173080			Rxfp4 (MGI:2182926)
chr1	155946854	155979617	1q21-q22	1q22	607560	ARHGEF2, GEFH1, KIAA0651, NEDMHM	RHO guanine nucleotide exchange factor 2	ARHGEF2	9181	ENSG00000116584	mutation identified in 1 NEDMHM family	?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3), Autosomal recessive	Arhgef2 (MGI:103264)
chr1	156009048	156020951	1q21-q23	1q22	600867	SSR2	Signal sequence receptor, beta	SSR2	6746	ENSG00000163479			Ssr2 (MGI:1913506)
chr1	156031247	156053798	1q21	1q22	605440	UBQLN4, A1U, C1orf6	Ubiquitin 4	UBQLN4	56893	ENSG00000160803			Ubqln4 (MGI:2150152)
chr1	156054782	156058506	1q22	1q22	610389	LAMTOR2, MAPBPIP, p14,	Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	LAMTOR2	28956	ENSG00000116586	mutation identified in 1 family	Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3), Autosomal recessive	Lamtor2 (MGI:1932697)
chr1	156061160	156070504	1q22	1q22	612942	RAB25, RAB11C	Ras-associated protein RAB25	RAB25	57111	ENSG00000132698			Rab25 (MGI:1858203)
chr1	156072013	156082465	1q22	1q22	611007	MEX3A	mex-3 RNA binding family member A	MEX3A	92312	ENSG00000254726			Mex3a (MGI:1919890)
chr1	156082573	156140081	1q21.2	1q22	150330	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	Lamin A/C	LMNA	4000	ENSG00000160789		Mandibuloacral dysplasia, 248370 (3), Autosomal recessive; Heart-hand syndrome, Slovenian type, 610140 (3), Autosomal dominant; Cardiomyopathy, dilated, 1A, 115200 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3), Autosomal recessive; Restrictive dermopathy 2, 619793 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2B1, 605588 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3), Autosomal dominant; Hutchinson-Gilford progeria, 176670 (3), Autosomal dominant; Lipodystrophy, familial partial, type 2, 151660 (3), Autosomal dominant; Muscular dystrophy, congenital, 613205 (3), Autosomal dominant; Malouf syndrome, 212112 (3), Autosomal dominant	Lmna (MGI:96794)
chr1	156147373	156177744	1q22	1q22	607292	SEMA4A, SEMB, RP35, CORD10	Semaphorin 4A	SEMA4A	64218	ENSG00000196189		Retinitis pigmentosa 35, 610282 (3), Autosomal recessive; Cone-rod dystrophy 10, 610283 (3), Autosomal recessive	Sema4a (MGI:107560)
chr1	156194104	156212796	1q22	1q22	610824	SLC25A44	Solute carrier family 25, member 44	SLC25A44	9673	ENSG00000160785			Slc25a44 (MGI:2444391)
chr1	156213007	156240042	1q12	1q22	609176	PMF1	Polyamine-modulated factor 1	PMF1	11243	ENSG00000160783			Pmf1 (MGI:1914287)
chr1	156242184	156243317	1q25-q31	1q22	112260	BGLAP	Bone gamma-carboxyglutamic acid protein	BGLAP	632	ENSG00000242252			Bglap,Bglap2,Bglap3 (MGI:88155,MGI:88156,MGI:88157)
chr1	156243320	156248056	1q22	1q22	614579	PAQR6	Progestin and ADIPOQ receptor family, member 6	PAQR6	79957	ENSG00000160781			Paqr6 (MGI:1916207)
chr1	156249224	156291516	1q21.2	1q22	610962	SMG5, EST1B, KIAA1089	SMG5 nonsense-mediated nRNA decay factor	SMG5	23381	ENSG00000198952			Smg5 (MGI:2447364)
chr1	156282932	156292443	1q23.1	1q22	615531	TMEM79, MATT	Transmembrane protein 79	TMEM79	84283	ENSG00000163472			Tmem79 (MGI:1919163)
chr1	156292688	156295679	1q23.1	1q22	619958	GLMP, C1orf85	Glycosylated lysosomal membrane protein	GLMP	112770	ENSG00000198715			Glmp (MGI:1913318)
chr1	156298624	156299307	1q21.2	1q22	619650	VHLL, VLP	VHL-like protein	VHLL	391104	ENSG00000189030			Vhl (MGI:103223)
chr1	156308968	156338292	1q23	1q22	600114	CCT3, TRIC5, NEDSVH	Chaperonin-containing TCP1, subunit 3, gamma (TCP1 (t-complex-1) ring complex, polypeptide 5)	CCT3	7203	ENSG00000163468		Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, 621034 (3), Autosomal dominant	Cct3 (MGI:104708)
chr1	156337314	156346995	1q22	1q22	619679	TSACC, SIP	TSSK6-activating cochaperone	TSACC	128229	ENSG00000163467			Tsacc (MGI:1924177)
chr1	156369211	156385219	1q21.3	1q22	607079	RHBG	Rhesus blood group, B glycoprotein	RHBG	57127	ENSG00000132677			Rhbg (MGI:1927379)
chr1	156404252	156429548	1q22	1q22	618747	C1orf61, CROC4	Chromosome 1 open reading frame 61	MIR9-1HG	10485	ENSG00000125462			
chr1	156420341	156420429	1q22	1q22	611186	MIR9-1, MIRN9-1	Micro RNA 9-1	MIR9-1	407046	ENSG00000207933			Mir9-1 (MGI:2676911)
chr1	156463727	156500775	1q12-q23	1q22	600663	MEF2D	MADS box transcription enhancer factor 2, polypeptide D (myocyte enhancer factor 2D)	MEF2D	4209	ENSG00000116604			Mef2d (MGI:99533)
chr1	156525405	156572565	1q22	1q22	621092	IQGAP3	IQ motif-containing GTPase-activating protein 3	IQGAP3	128239	ENSG00000183856			Iqgap3 (MGI:3028642)
chr1	156591776	156594299	1q21	1q22	608862	NAXE, APOA1BP, AIBP, PEBEL	NAD(P)HX epimerase	NAXE	128240	ENSG00000163382		Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive	Naxe (MGI:2180167)
chr1	156600001	165500000	1q23		605913	BDET	Bleeding disorder, east Texas type		85504			Bleeding disorder, east Texas type, 605913 (2)	
chr1	156600001	165500000	1q23		157560	D1S61, D1S111, MS336	Minisatellite 33.6		7824				
chr1	156601504	156625725	1q23	1q23.1	619726	HAPLN2, BRAL1	Hyaluronan and proteoglycan link protein 2	HAPLN2	60484	ENSG00000132702			Hapln2 (MGI:2137300)
chr1	156642117	156659528	1q23.1	1q23.1	600347	BCAN	Brevican	BCAN	63827	ENSG00000132692			Bcan (MGI:1096385)
chr1	156668763	156677407	1q23.1	1q23.1	600915	NES	Nestin	NES	10763	ENSG00000132688			Nes (MGI:101784)
chr1	156699606	156705784	1q21.3	1q23.1	180231	CRABP2, RBP6	Cellular retinoic acid-binding protein-2	CRABP2	1382	ENSG00000143320			Crabp2 (MGI:88491)
chr1	156721891	156728766	1q23.1	1q23.1	611930	ISG20L2	Interferon-stimulated exonuclease gene 20-kD-like 2	ISG20L2	81875	ENSG00000143319			Isg20l2 (MGI:2140076)
chr1	156737303	156742716	1q21-q22	1q23.1	611836	MRPL24	Mitochondrial ribosomal protein L24	MRPL24	79590	ENSG00000143314			Mrpl24 (MGI:1914957)
chr1	156742107	156767366	1q21	1q23.1	600339	HDGF	Hepatoma-derived growth factor	HDGF	3068	ENSG00000143321	previously assigned to Chr.X		Hdgf (MGI:1194494)
chr1	156767535	156800815	1q21	1q23.1	179755	PRCC, RCCP1	Proline-rich mitotic checkpoint control factor	PRCC	5546	ENSG00000143294	t(X;1)(p11;q21); fuses with TFE3 in RCCP	Renal cell carcinoma, papillary, 605074 (3)	Prcc (MGI:2137738)
chr1	156806243	156816848	1q21	1q23.1	604514	SH2D2A, TSAD	SH2 domain protein 2A	SH2D2A	9047	ENSG00000027869			Sh2d2a (MGI:1351596)
chr1	156815750	156881850	1q21-q22	1q23.1	191315	NTRK1, TRKA	Neurotrophic tyrosine kinase, receptor, type 1	NTRK1	4914	ENSG00000198400	TRK = chimera of TPM3 and NTRK1	Insensitivity to pain, congenital, with anhidrosis, 256800 (3), Autosomal recessive	Ntrk1 (MGI:97383)
chr1	156840063	156859117	1q21-q23	1q23.1	147671	INSRR, IRR	Insulin receptor-related receptor	INSRR	3645	ENSG00000027644			Insrr (MGI:1346037)
chr1	156893718	156916429	1q23.1	1q23.1	610278	PEAR1	Platelet endothelial aggregation receptor 1	PEAR1	375033	ENSG00000187800			Pear1 (MGI:1920432)
chr1	156934840	157046903	1q23.1	1q23.1	605708	ARHGEF11, GTRAP48, KIAA0380	Rho guanine nucleotide exchange factor 11	ARHGEF11	9826	ENSG00000132694			Arhgef11 (MGI:2441869)
chr1	157092043	157099808	1q23.1	1q23.1	621105	ETV3L	ETS variant transcription factor 3-like	ETV3L	440695	ENSG00000253831			
chr1	157121191	157138395	1q21-q23	1q23.1	164873	ETV3, PE1	ETS variant transcription factor 3	ETV3	2117	ENSG00000117036			Etv3 (MGI:1350926)
chr1	157513377	157552515	1q21	1q23.1	605877	IRTA2	Immunoglobulin superfamily receptor translocation-associated gene 2	FCRL5	83416	ENSG00000143297			Fcrl5 (MGI:3053558)
chr1	157573747	157598085	1q21	1q23.1	605876	IRTA1	Immunoglobulin superfamily receptor translocation-associated gene 1	FCRL4	83417	ENSG00000163518	fused with IGHA1 in multiple myeloma		
chr1	157676481	157700956	1q21.2-q22	1q23.1	606510	FCRH3	Fc receptor-like protein 3	FCRL3	115352	ENSG00000160856			Fcrl5 (MGI:3053558)
chr1	157745733	157777132	1q21.2-q22	1q23.1	606509	SPAP1, SPAP1A, SPAP1B, SPAP1C	SH2 domain-containing phosphatase anchor protein 1	FCRL2	79368	ENSG00000132704			Fcrl2 (MGI:1933397)
chr1	157794403	157820120	1q21.2-q22	1q23.1	606508	FCRL1, FCRH1	Fc receptor-like protein 1	FCRL1	115350	ENSG00000163534			Fcrl1 (MGI:2442862)
chr1	157827068	157841808	1q21-q23	1q23.1	602592	CD5L	CD5 antigen-like (scavenger receptor cysteine rich family)	CD5L	922	ENSG00000073754			Cd5l (MGI:1334419)
chr1	157993645	158100262	1q23.1	1q23.1	607428	KIRREL1, NEPH1, NPHS23	Kirre-like nephrin family adhesion molecule 1	KIRREL1	55243	ENSG00000183853		Nephrotic syndrome, type 23, 619201 (3), Autosomal recessive	Kirrel1 (MGI:1891396)
chr1	158178030	158186427	1q21-q23	1q23.1	188410	CD1D	Thymocyte antigen CD1D	CD1D	912	ENSG00000158473			Cd1d1,Cd1d2 (MGI:107674,MGI:107675)
chr1	158248336	158258269	1q21-q23	1q23.1	188370	CD1A	Thymocyte antigen CD1A	CD1A	909	ENSG00000158477	genes A, B, C, D in cluster		
chr1	158285405	158331531	1q21-q23	1q23.1	188360	CD1B	Thymocyte antigen CD1B	CD1B	910	ENSG00000158485			
chr1	158289923	158294774	1q21-q23	1q23.1	188340	CD1C	Thymocyte antigen CD1C	CD1C	911	ENSG00000158481			
chr1	158353894	158357553	1q21-q23	1q23.1	188411	CD1E	Thymocyte antigen CD1E	CD1E	913	ENSG00000158488			
chr1	158610704	158686715	1q21	1q23.1	182860	SPTA1, EL2, SPH3, HS3, HPP	Spectrin, alpha, erythrocytic-1	SPTA1	6708	ENSG00000163554	17cM proximal to FY	Spherocytosis, type 3, 270970 (3), Autosomal recessive; Elliptocytosis-2, 130600 (3), Autosomal dominant; Pyropoikilocytosis, 266140 (3), Autosomal recessive	Spta1 (MGI:98385)
chr1	158831351	158849502	1q22	1q23.1	159553	MNDA	Myeloid cell nuclear differentiation antigen	MNDA	4332	ENSG00000163563			Ifi204,Ifi205,Ifi211 (MGI:101847,MGI:3041120,MGI:96429)
chr1	158931552	158990870	1q21-q23	1q23.1	612677	PYHIN1, IFIX	Pyrin and Hin domain family, member 1	PYHIN1	149628	ENSG00000163564			Ifi204,Ifi205,Ifi211 (MGI:101847,MGI:3041120,MGI:96429)
chr1	158999976	159055151	1q22	1q23.1	147586	IFI16	Interferon, gamma-inducible protein 16	IFI16	3428	ENSG00000163565			Ifi203,Ifi203-ps,Ifi204,Ifi205,Ifi206,Ifi207,Ifi208,Ifi209,Ifi211,Ifi213,Ifi214,Mndal (MGI:101847,MGI:2138243,MGI:2138302,MGI:2442822,MGI:3041120,MGI:3584522,MGI:3646410,MGI:3695276,MGI:3780953,MGI:3840117,MGI:96428,MGI:96429)
chr1	159055051	159147132	1q22	1q23.1-q23.2	604578	AIM2	Absent in melanoma 2	AIM2	9447	ENSG00000163568			Aim2 (MGI:2686159)
chr1	159171615	159203313	1q21.2-q22	1q23.2	609743	CADM3, IGSF4B, TSLL1, NECL1, SYNCAM3, CMT2FF	Cell adhesion molecule 3	CADM3	57863	ENSG00000162706		Charcot-Marie-Tooth disease, axonal, type 2FF, 619519 (3), Autosomal dominant	Cadm3 (MGI:2137858)
chr1	159204875	159206500	1q23.2	1q23.2	613665	ACKR1, DARC, FY, GPD, WBCQ1	Atypical chemokine receptor 1 (Duffy antigen receptor for chemokines)	ACKR1	2532	ENSG00000213088	by A, 1q22-q23	[Blood group, Duffy system], 110700 (3), Autosomal recessive, Autosomal dominant; [White blood cell count QTL], 611862 (3), Autosomal recessive; {Malaria, vivax, protection against}, 611162 (3)	Ackr1 (MGI:1097689)
chr1	159283575	159308202	1q23	1q23.2	147140	FCER1A	Fc IgE receptor, alpha polypeptide	FCER1A	2205	ENSG00000179639			Fcer1a (MGI:95494)
chr1	159535078	159536007	1q23.2	1q23.2	619546	OR10J5, OLFR16, MOR23	Olfactory receptor, family 10, subfamily J, member 5	OR10J5	127385	ENSG00000184155			Or10j5 (MGI:106648)
chr1	159587826	159588865	1q21-q23	1q23.2	104770	APCS, SAP	Amyloid P component, serum	APCS	325	ENSG00000132703	probably close to CRP		Apcs (MGI:98229)
chr1	159712289	159714589	1q21-q23	1q23.2	123260	CRP	C-reactive protein	CRP	1401	ENSG00000132693			Crp (MGI:88512)
chr1	159780962	159782543	1q23	1q23.2	618361	DUSP23, DUSP25, LDP3, VHZ	Dual-specificity phosphatase 23	DUSP23	54935	ENSG00000158716			Dusp23 (MGI:1915690)
chr1	159800512	159816257	1q23.2	1q23.2	613562	FCRL6	Fc receptor-like protein 6	FCRL6	343413	ENSG00000181036			Fcrl6 (MGI:3618339)
chr1	159826873	159837492	1q21	1q23.2	606620	SLAMF8, BLAME	SLAM family, member 8	SLAMF8	56833	ENSG00000158714			Slamf8 (MGI:1921998)
chr1	159854316	159862657	1q23.2	1q23.2	621098	VSIG8	V-set and immunoglobulin domains-containing protein 8	VSIG8	391123	ENSG00000243284			Vsig8 (MGI:3642995)
chr1	159872364	159900165	1q23.2	1q23.2	605152	CFAP45, CCDC19, NESG1, HTX11	Cilia- and flagella-associated protein 45	CFAP45	25790	ENSG00000213085		Heterotaxy, visceral, 11, autosomal, with male infertility, 619608 (3), Autosomal recessive	Cfap45 (MGI:1919120)
chr1	159918111	159925507	1q21-q25	1q23.2	604634	TAGLN2	Transgelin 2	TAGLN2	8407	ENSG00000158710			Tagln2 (MGI:1312985)
chr1	159927041	159945613	1q22-q23	1q23.2	609738	IGSF9, KIAA1355	Immunoglobulin superfamily, member 9	IGSF9	57549	ENSG00000085552			Igsf9 (MGI:2135283)
chr1	159951492	159983984	1q23.2	1q23.2	608589	SLAMF9, CD2F10	SLAM family, member 9	SLAMF9	89886	ENSG00000162723			Slamf9 (MGI:1923692)
chr1	160024953	160031990	1q23.2	1q23.2	610273	PIGM	Phosphatidylinositol glycan, class M	PIGM	93183	ENSG00000143315		Glycosylphosphatidylinositol deficiency, 610293 (3), Autosomal recessive	Pigm (MGI:1914806)
chr1	160037467	160070160	1q23.2	1q23.2	602208	KCNJ10, SESAME	Potassium inwardly-rectifying channel, subfamily J, member 10	KCNJ10	3766	ENSG00000177807		Enlarged vestibular aqueduct, digenic, 600791 (3), Autosomal recessive; SESAME syndrome, 612780 (3), Autosomal recessive	Kcnj10 (MGI:1194504)
chr1	160081538	160090563	1q23.2	1q23.2	600932	KCNJ9, GIRK3	Potassium inwardly-rectifying channel, subfamily J, member 9	KCNJ9	3765	ENSG00000162728			Kcnj9 (MGI:108007)
chr1	160091339	160099468	1q23.1	1q23.2	606644	IGSF8, PGRL, CD81P3	Immunoglobulin superfamily, member 8	IGSF8	93185	ENSG00000162729			Igsf8 (MGI:2154090)
chr1	160115759	160143591	1q21-q23	1q23.2	182340	ATP1A2, FHM2, MHP2, FARIMPD, DEE98	ATPase, Na+K+ transporting, alpha-2 polypeptide	ATP1A2	477	ENSG00000018625		Developmental and epileptic encephalopathy 98, 619605 (3), Autosomal dominant; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, 619602 (3), Autosomal recessive; Alternating hemiplegia of childhood 1, 104290 (3), Autosomal dominant; Migraine, familial basilar, 602481 (3), Autosomal dominant; Migraine, familial hemiplegic, 2, 602481 (3), Autosomal dominant	Atp1a2 (MGI:88106)
chr1	160151603	160186980	1q21-q32	1q23.2	607321	ATP1A4, ATP1AL2	ATPase, Na+/K+ transporting, alpha-4 polypeptide	ATP1A4	480	ENSG00000132681			Atp1a4 (MGI:1351335)
chr1	160190575	160201886	1q21	1q23.2	114250	CASQ1, VMCQA	Calsequestrin, fast-twitch, skeletal muscle-1	CASQ1	844	ENSG00000143318		Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3), Autosomal dominant	Casq1 (MGI:1309468)
chr1	160205384	160215372	1q21.1	1q23.2	603434	PEA15, HMAT1, PED	Proliferation and apoptosis adaptor protein 15	PEA15	8682	ENSG00000162734			Pea15a (MGI:104799)
chr1	160215720	160262549	1q23.2	1q23.2	615820	DCAF8, WDR42A, GAN2	DDB1- and CUL4-associated factor 8	DCAF8	50717	ENSG00000132716	mutation identified in 1 GAN2 family	?Giant axonal neuropathy 2, autosomal dominant, 610100 (3), Autosomal dominant	Dcaf8 (MGI:91860)
chr1	160276807	160285151	1q22	1q23.2	600279	PEX19, PXF, HK33, D1S2223E, PBD12A	Peroxisome biogenesis factor 19 (peroxisomal farnesylated protein)	PEX19	5824	ENSG00000162735		Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3), Autosomal recessive	Pex19 (MGI:1334458)
chr1	160288594	160343250	1q23-q25	1q23.2	601924	COPA, AIAISD	Coatomer protein complex, subunit alpha	COPA	1314	ENSG00000122218		{Autoinflammation and autoimmunity, systemic, with immune dysregulation}, 616414 (3), Autosomal dominant	Copa (MGI:1334462)
chr1	160343383	160358949	1q22-q23	1q23.2	605254	NCSTN	Nicastrin	NCSTN	23385	ENSG00000162736		Acne inversa, familial, 1, 142690 (3), Autosomal dominant	Ncstn (MGI:1891700)
chr1	160367071	160372846	1q22	1q23.2	162360	NHLH1, HEN1	Nescient helix loop helix 1	NHLH1	4807	ENSG00000171786	closely linked to Sap in mouse		Nhlh1 (MGI:98481)
chr1	160400564	160428670	1q21-q23	1q23.2	600533	VANGL2, LTAP	VANGL planar cell polarity protein 2	VANGL2	57216	ENSG00000162738		Neural tube defects, 182940 (3), Autosomal dominant	Vangl2 (MGI:2135272)
chr1	160485036	160523255	1q23.1	1q23.2-q23.3	606446	SLAMF6, NTBA	SLAM family, member 6	SLAMF6	114836	ENSG00000162739			Slamf6 (MGI:1353620)
chr1	160500001	165500000	1q23.3		610141	QTV	QT interval, variation in		100379215		associated with rs12143842	[QT interval, variation in], 610141 (2)	
chr1	160541098	160579496	1q23.3	1q23.3	604513	CD84, SLAMF5	CD84 antigen	CD84	8832	ENSG00000066294			Cd84 (MGI:1336885)
chr1	160608106	160647044	1q22-q23	1q23.3	603492	SLAMF1, SLAM, CDW150, CD150	SLAM family, member 1	SLAMF1	6504	ENSG00000117090			Slamf1 (MGI:1351314)
chr1	160678746	160711822	1q21.3-q22	1q23.3	109530	CD48, BCM1, BLAST1	CD48 antigen (B-cell membrane protein)	CD48	962	ENSG00000117091			Cd48 (MGI:88339)
chr1	160739057	160754821	1q23-q24	1q23.3	606625	SLAMF7, CRACC, CS1	SLAM family, member 7	SLAMF7	57823	ENSG00000026751			Slamf7 (MGI:1922595)
chr1	160796174	160828255	1q21.3-q22	1q23.3	600684	LY9	T-lymphocyte surface antigen Ly-9	LY9	4063	ENSG00000122224	within 410kb of CD48		Ly9 (MGI:96885)
chr1	160830160	160862887	1q22	1q23.3	605554	CD244, NAIL, NKR2B4, SLAMF4	CD244 antigen	CD244	51744	ENSG00000122223		{Rheumatoid arthritis, susceptibility to}, 180300 (3)	Cd244a (MGI:109294)
chr1	160876540	160885180	1q21.3-q22	1q23.3	609873	ITLN1, INTL, LFR, HL1	Intelectin 1	ITLN1	55600	ENSG00000179914			Itln1,Itlnb (MGI:1333831,MGI:3057189)
chr1	160945025	160954809	1q21.3-q22	1q23.3	609874	ITLN2, HL2	Intelectin 2	ITLN2	142683	ENSG00000158764			Itln1 (MGI:1333831)
chr1	160995211	161021152	1q21.2-q21.3	1q23.3	605721	F11R, JAM1	F11 receptor (junctional adhesion molecule 1)	F11R	50848	ENSG00000158769			F11r (MGI:1321398)
chr1	161037631	161038964	1q23.3	1q23.3	616041	TSTD1, KAT	Thiosulfate sulfurtransferase (rhodanese)-like domain-containing protein 1	TSTD1	100131187	ENSG00000215845			Tstd1 (MGI:3648482)
chr1	161039251	161045977	1q22-q23	1q23.3	191523	USF1, HYPLIP1	Upstream transcription factor 1	USF1	7391	ENSG00000158773		{Hyperlipidemia, familial combined, susceptibility to}, 602491 (3)	Usf1 (MGI:99542)
chr1	161046946	161069891	1q23.3	1q23.3	614264	ARHGAP30	RHO GTPase-activating protein 30	ARHGAP30	257106	ENSG00000186517			Arhgap30 (MGI:2684948)
chr1	161070998	161089558	1q23.3	1q23.3	609607	NECTIN4, PVRL4, PRR4, EDSS1	Nectin 4	NECTIN4	81607	ENSG00000143217		Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3), Autosomal recessive	Nectin4 (MGI:1918990)
chr1	161098361	161100346	1q23.3	1q23.3	617375	KLHDC9, KARCA1	Kelch domain-containing protein 9	KLHDC9	126823	ENSG00000162755			Klhdc9 (MGI:1916124)
chr1	161100561	161118037	1q23.3	1q23.3	613466	PFDN2	Prefoldin 2	PFDN2	5202	ENSG00000143256			Pfdn2 (MGI:1276111)
chr1	161118105	161125445	1q21-q22	1q23.3	604618	NIT1	Nitrilase 1	NIT1	4817	ENSG00000158793			Nit1 (MGI:1350916)
chr1	161120974	161132667	1q23.3	1q23.3	606841	DEDD, DEFT	Death effector domain-containing protein	DEDD	9191	ENSG00000158796			Dedd (MGI:1333874)
chr1	161153978	161158856	1q23.3	1q23.3	610554	UFC1, NEDSG	Ubiquitin-fold modifier-conjugating enzyme 1	UFC1	51506	ENSG00000143222		Neurodevelopmental disorder with spasticity and poor growth, 618076 (3), Autosomal recessive	Ufc1 (MGI:1913405)
chr1	161159500	161165723	1q22	1q23.3	604729	USP21, USP23	Ubiquitin-specific protease 21	USP21	27005	ENSG00000143258			Usp21 (MGI:1353665)
chr1	161165728	161178013	1q22	1q23.3	600923	PPOX, VP, VPCO	Protoporphyrinogen oxidase	PPOX	5498	ENSG00000143224		Variegate porphyria, childhood-onset, 620483 (3), Autosomal recessive; Variegate porphyria, 176200 (3), Autosomal dominant	Ppox (MGI:104968)
chr1	161171310	161177968	1q23	1q23.3	604014	B4GALT3	Beta-1,4-galactosyltransferase 3	B4GALT3	8703	ENSG00000158850			B4galt3 (MGI:1928767)
chr1	161184302	161199054	1q21-q23	1q23.3	603876	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4 (aggrecanase 1)	ADAMTS4	9507	ENSG00000158859			Adamts4 (MGI:1339949)
chr1	161197417	161214395	1q23	1q23.3	602985	NDUFS2, MC1DN6, LHONAR2	NADH-ubiquinone oxidoreductase core subunit S2	NDUFS2	4720	ENSG00000158864	mutation identified in 1 LHONAR2 family	?Leber-like hereditary optic neuropathy, autosomal recessive 2, 620569 (3), Autosomal recessive; Mitochondrial complex I deficiency, nuclear type 6, 618228 (3), Autosomal recessive	Ndufs2 (MGI:2385112)
chr1	161215295	161219245	1q23	1q23.3	147139	FCER1G	Fc fragment of IgE, high affinity I, receptor for, gamma polypeptide	FCER1G	2207	ENSG00000158869	probably on 1q close to CD32		Fcer1g (MGI:95496)
chr1	161222292	161223628	1q21-q23	1q23.3	107670	APOA2	Apolipoprotein A-II	APOA2	336	ENSG00000158874		Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal recessive, Autosomal dominant	Apoa2 (MGI:88050)
chr1	161229669	161238203	1q23.1	1q23.3	603881	NR1I3, CAR, MB67	Nuclear receptor subfamily 1, group I, member 3	NR1I3	9970	ENSG00000143257			Nr1i3 (MGI:1346307)
chr1	161303600	161309968	1q22	1q23.3	159440	MPZ, CMT1B, CMTDID, DSS, CHN2	Myelin protein zero	MPZ	4359	ENSG00000158887		Charcot-Marie-Tooth disease, type 2I, 607677 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, type 1B, 118200 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3), Autosomal dominant; Hypomyelinating neuropathy, congenital, 2, 618184 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2J, 607736 (3), Autosomal dominant	Mpz (MGI:103177)
chr1	161314381	161363206	1q21	1q23.3	602413	SDHC, PPGL3	Succinate dehydrogenase complex, subunit C	SDHC	6391	ENSG00000143252		Pheochromocytoma/paraganglioma syndrome 3, 605373 (3), Autosomal dominant; Paraganglioma and gastric stromal sarcoma, 606864 (3); Gastrointestinal stromal tumor, 606764 (3), Autosomal dominant, Isolated cases	Sdhc (MGI:1913302)
chr1	161364733	161367876	1q23.3	1q23.3	616119	CFAP126, FLTP	Cilia- and flagella-associated protein 126	CFAP126	257177	ENSG00000188931			Cfap126 (MGI:1922722)
chr1	161505457	161524048	1q21-q23	1q23.3	146790	FCGR2A, IGFR2, CD32	Fc fragment of IgG receptor IIa	FCGR2A	2212	ENSG00000143226	FCG2 and FCG3 within 250kb	{Malaria, severe, susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3), Autosomal recessive; {Lupus nephritis, susceptibility to}, 152700 (3), Autosomal dominant	Fcgr2b,Fcgr3 (MGI:95499,MGI:95500)
chr1	161524540	161526894	1q	1q23.3	140555	HSPA6	Heat-shock 70kD protein-6 (HSP70B')	HSPA6	3310	ENSG00000173110			
chr1	161541759	161550737	1q23	1q23.3	146740	FCGR3A, CD16, IGFR3, IMD20	Fc fragment of IgG receptor IIIa	FCGR3A	2214	ENSG00000203747	FCGR2A and FCGR3A within 250kb antigen	Immunodeficiency 20, 615707 (3), Autosomal recessive	Fcgr4 (MGI:2179523)
chr1	161581339	161601220	1q23	1q23.3	612169	FCGR2C, CD32C	Fc fragment of IgG receptor IIc	FCGR2C	9103		?pseudogene		Fcgr2b (MGI:95499)
chr1	161606172	161608550	1q23.3	1q23.3	140556	HSPA7	Heat-shock protein family A (Hsp70) member 7, pseudogene	HSPA7	3311	ENSG00000225217			
chr1	161623196	161631963	1q23	1q23.3	610665	FCGR3B	Fc fragment of IgG receptor IIIb	FCGR3B	2215	ENSG00000162747			Fcgr4 (MGI:2179523)
chr1	161647243	161678654	1q22	1q23.3	604590	FCGR2B, CD32	Fc fragment of IgG receptor Ia	FCGR2B	2213	ENSG00000072694		{Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3)	Fcgr2b (MGI:95499)
chr1	161707229	161714352	1q23	1q23.3	606891	FREB	Fc receptor homolog expressed in B cells	FCRLA	84824	ENSG00000132185			Fcrla (MGI:2138647)
chr1	161721544	161728143	1q23.3	1q23.3	609251	FCRLB, FCRL2, FREB2, FCRY	Fc receptor-like protein B	FCRLB	127943	ENSG00000162746			Fcrlb (MGI:3576487)
chr1	161749786	161757238	1q21-q22	1q23.3	604835	DUSP1, YVH1	Dual-specificity phosphatase 12	DUSP12	11266	ENSG00000081721			Dusp12 (MGI:1890614)
chr1	161766320	161964070	1q22-q23	1q23.3	605537	ATF6, ACHM7	Activating transcription factor-6	ATF6	22926	ENSG00000118217		Achromatopsia 7, 616517 (3), Autosomal recessive	Atf6 (MGI:1926157)
chr1	162069691	162370475	1q23.3	1q23.3	605551	NOS1AP, CAPON, KIAA0464, NPHS22	Nitric oxide synthase 1 (neuronal) adaptor protein	NOS1AP	9722	ENSG00000198929		Nephrotic syndrome, type 22, 619155 (3), Autosomal recessive	Nos1ap (MGI:1917979)
chr1	162373203	162376854	1q23.3	1q23.3	617257	SPATA46	Spermatogenesis-associated protein 46	SPATA46	284680	ENSG00000171722			Spata46 (MGI:1924175)
chr1	162395268	162412136	1q22	1q23.3	608510	SH2D1B, EAT2	SH2 domain-containing 1B	SH2D1B	117157	ENSG00000198574			Sh2d1b1,Sh2d1b2 (MGI:1349420,MGI:3622649)
chr1	162497174	162529631	1q23.1	1q23.3	608849	KIS	Kinase-interacting stathmin	UHMK1	127933	ENSG00000152332			Uhmk1 (MGI:1341908)
chr1	162561531	162601240	1q23.3	1q23.3	602862	UAP1, SPAG2	ADP-N-acetylglucosamine pyrophosphorylase 1	UAP1	6675	ENSG00000117143			Uap1 (MGI:1334459)
chr1	162630863	162787405	1q12-qter	1q23.3	191311	DDR2, NTRKR3, TKT, WRCN	Discoidin domain receptor family, member 2	DDR2	4921	ENSG00000162733		Warburg-Cinotti syndrome, 618175 (3), Autosomal dominant; Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3), Autosomal recessive	Ddr2 (MGI:1345277)
chr1	162790702	162812823	1q23.3	1q23.3	606756	HSD17B7	17-beta-hydroxysteroid dehydrogenase VII	HSD17B7	51478	ENSG00000132196			Hsd17b7 (MGI:1330808)
chr1	163068871	163076802	1q23.3	1q23.3	602516	RGS4	Regulator of G protein signaling 4	RGS4	5999	ENSG00000117152			Rgs4 (MGI:108409)
chr1	163142299	163321735	1q23	1q23.3	603276	RGS5	Regulator of G protein signaling-5	RGS5	8490	ENSG00000143248		[Blood pressure regulation QTL], 145500 (2), Multifactorial	Rgs5 (MGI:1098434)
chr1	163321954	163355759	1q23	1q23.3	611772	NUF2, NUF2R, CDCA1	NUF2 component of NDC80 kinetochore complex	NUF2	83540	ENSG00000143228			Nuf2 (MGI:1914227)
chr1	164559184	164886047	1q23	1q23.3	176310	PBX1, CAKUHED	Pre-B cell leukemia transcription factor-1	PBX1	5087	ENSG00000185630	pseudogene PBXP1 on chr.3	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3), Autosomal dominant	Pbx1 (MGI:97495)
chr1	165201867	165356715	1q22-q23	1q23.3	600298	LMX1A, LMX1, DFNA7	LIM homeobox transcription factor-1, alpha	LMX1A	4009	ENSG00000162761		Deafness, autosomal dominant 7, 601412 (3), Autosomal dominant	Lmx1a (MGI:1888519)
chr1	165400922	165445126	1q22-q23	1q23.3	180247	RXRG	Retinoid X receptor, gamma	RXRG	6258	ENSG00000143171			Rxrg (MGI:98216)
chr1	165544000	165563957	1q24.1	1q24.1	615218	LRRC52	Leucine-rich repeat-containing protein 52	LRRC52	440699	ENSG00000162763			Lrrc52 (MGI:1924118)
chr1	165631234	165656136	1q23	1q24.1	604564	MGST3	Glutatione S-transferase, microsomal, 3	MGST3	4259	ENSG00000143198			Mgst3 (MGI:1913697)
chr1	165662216	165698562	1q22-q23	1q24.1	602733	ALDH9A1, ALDH9, E3	Aldehyde dehydrogenase 9 family, member A1	ALDH9A1	223	ENSG00000143149			Aldh9a1 (MGI:1861622)
chr1	165724291	165768922	1q24.1	1q24.1	614123	TMCO1, CFSMR1	Transmembrane and coiled-coil domains protein 1	TMCO1	54499	ENSG00000143183		Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, 213980 (3), Autosomal recessive	Tmco1 (MGI:1921173)
chr1	165827614	165911618	1q22-q23.2	1q24.1	609329	UCK2, TSA903	Uridine/cytidine kinase 2	UCK2	7371	ENSG00000143179			Uck2 (MGI:1931744)
chr1	166839475	166856359	1q24.1	1q24.1	620039	POGK, BASS2	POGO transposable element-derived protein with KRAB domain	POGK	57645	ENSG00000143157			Pogk (MGI:1918842)
chr1	166856510	166876264	1q24-q25	1q24.1	612763	TADA1L, STAF42	Transcriptional adaptor 1-like	TADA1	117143	ENSG00000152382			Tada1 (MGI:1196415)
chr1	166908187	166975540	1q24.1	1q24.1	618081	ILDR2	Immunoglobulin-like domain-containing receptor 2	ILDR2	387597	ENSG00000143195			Ildr2 (MGI:1196370)
chr1	166975582	167022214	1q24.1	1q24.1	611368	MAEL	Maelstrom spermatogenic transposon silencer	MAEL	84944	ENSG00000143194			Mael (MGI:2138453)
chr1	167052836	167090377	1q24.1	1q24.1	602171	GPA33	Glycoprotein A33	GPA33	10223	ENSG00000143167			Gpa33 (MGI:1891703)
chr1	167220885	167427345	1q22-q23	1q24.2	164175	OTF1, OCT1	Octamer-binding transcription factor-1	POU2F1	5451	ENSG00000143190			Pou2f1 (MGI:101898)
chr1	167430640	167518529	1q22-q23	1q24.2	186780	CD247, CD3Z, TCRZ, IMD25	CD247 antigen	CD247	919	ENSG00000198821	mutation identified in one IMD25 patient	?Immunodeficiency 25, 610163 (3), Autosomal recessive	Cd247 (MGI:88334)
chr1	167541013	167553762	1q24.2	1q24.2	618055	CREG1	Cellular repressor of E1A-stimulated genes 1	CREG1	8804	ENSG00000143162			Creg1 (MGI:1344382)
chr1	167630232	167708696	1q24	1q24.2	610579	RCSD1, CAPZIP	RCSD domain-containing protein 1	RCSD1	92241	ENSG00000198771			Rcsd1 (MGI:2676394)
chr1	167721982	167791919	1q24	1q24.2	604376	MPZL1, PZR	Myelin protein zero-like 1	MPZL1	9019	ENSG00000197965			Mpzl1 (MGI:1915731)
chr1	167809386	167914134	1q24	1q24.2	605205	ADCY10, SAC, HCA2	Adenylyl cyclase 10, soluble	ADCY10	55811	ENSG00000143199		{Hypercalciuria, absorptive, susceptibility to}, 143870 (3), Autosomal dominant	Adcy10 (MGI:2660854)
chr1	167863576	168075836	1q24.2	1q24.2	610494	DCAF6, IQWD1, NRIP	DDB1 and CUL4 associated factor 6	DCAF6	55827	ENSG00000143164			Dcaf6 (MGI:1921356)
chr1	167916675	167937072	1q24.2	1q24.2	614737	MPC2, BRP44	Mitochondrial pyruvate carrier 2	MPC2	25874	ENSG00000143158			Mpc2 (MGI:1917706)
chr1	168079542	168137667	1q24.2	1q24.2	612250	GPR161	G protein-coupled receptor 161	GPR161	23432	ENSG00000143147		{Medulloblastoma predisposition syndrome}, 155255 (3), Somatic mutation, Autosomal recessive, Autosomal dominant	Gpr161 (MGI:2685054)
chr1	168178962	168202109	1q23.2	1q24.2	611807	TIPRL, TIP41, TIP	TIP41-like protein	TIPRL	261726	ENSG00000143155			Tiprl (MGI:1915087)
chr1	168280877	168314426	1q23-q24	1q24.2	604614	TBX19	T-box 19	TBX19	9095	ENSG00000143178		Adrenocorticotropic hormone deficiency, 201400 (3), Autosomal recessive	Tbx19 (MGI:1891158)
chr1	168540768	168543997	1q23	1q24.2	604828	XCL2, SCYC2, SCM1B	Chemokine, C motif, ligand 2	XCL2	6846	ENSG00000143185			Xcl1 (MGI:104593)
chr1	168576605	168582069	1q23	1q24.2	600250	XCL1, SCYC1, SCM1, LTN, LPTN	Chemokine, C motif, ligand 1 (lymphotactin)	XCL1	6375	ENSG00000143184			Xcl1 (MGI:104593)
chr1	168695468	168729206	1q12-q23	1q24.2	125597	DPT	Dermatopontin	DPT	1805	ENSG00000143196			Dpt (MGI:1928392)
chr1	169106690	169132719	1q22-q25	1q24.2	182330	ATP1B1	ATPase, Na+K+ transporting, beta-1 polypeptide	ATP1B1	481	ENSG00000143153		[Blood pressure regulation QTL], 145500 (2), Multifactorial	Atp1b1 (MGI:88108)
chr1	169132531	169367797	1q24	1q24.2	613465	NME7, MN23H7	NME/NM23 family, member 7	NME7	29922	ENSG00000143156			Nme7 (MGI:2449121)
chr1	169368195	169396575	1q24.2	1q24.2	608692	BLZF1, JEM1	Basic leucine zipper nuclear factor 1	BLZF1	8548	ENSG00000117475			Blzf1 (MGI:1201607)
chr1	169394870	169460669	1q24.2	1q24.2	620891	CCDC181	Coiled-coil domain-containing protein 181	CCDC181	57821	ENSG00000117477			Ccdc181 (MGI:1922145)
chr1	169463909	169485970	1q23.3	1q24.2	603941	SLC19A2, THTR1, TRMA, THMD1	Solute carrier family 19 (thiamine transporter), member 2	SLC19A2	10560	ENSG00000117479		Thiamine-responsive megaloblastic anemia syndrome, 249270 (3), Autosomal recessive	Slc19a2 (MGI:1928761)
chr1	169511951	169586481	1q23	1q24.2	612309	F5, THPH2, RPRGL1	Coagulation factor V (proaccelerin, labile factor)	F5	2153	ENSG00000198734	Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment	Thrombophilia 2 due to activated protein C resistance, 188055 (3), Autosomal dominant; {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3), Autosomal dominant; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3), Autosomal dominant; {Budd-Chiari syndrome}, 600880 (3), Autosomal recessive; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial; Factor V deficiency, 227400 (3), Autosomal recessive	F5 (MGI:88382)
chr1	169588849	169630124	1q23-q25	1q24.2	173610	SELP, GRMP	Selectin P (granulocyte membrane protein, 140kD; antigen CD62)	SELP	6403	ENSG00000174175	in same 300kb segment as LYAM1, ELAM1		Selp (MGI:98280)
chr1	169690667	169711620	1q23-q25	1q24.2	153240	SELL, LYAM1, LAM1, LNHR	Selectin L (lymphocyte adhesion molecule 1)	SELL	6402	ENSG00000188404			Sell (MGI:98279)
chr1	169722640	169734079	1q23-q25	1q24.2	131210	SELE, ELAM1	Selectin E (endothelial leukocyte adhesion molecule-1)	SELE	6401	ENSG00000007908			Sele (MGI:98278)
chr1	169792529	169794907	1q24.2	1q24.2	615255	METTL18, C1orf156	Methyltransferase-like 18	METTL18	92342	ENSG00000171806			Mettl18 (MGI:1917212)
chr1	169849631	169894268	1q24.2	1q24.2	608192	SCYL3, PACE1	SCY1-like pseudokinase 3	SCYL3	57147	ENSG00000000457			Scyl3 (MGI:1921385)
chr1	169921329	170085184	1q24.2	1q24.2	601836	KIFAP3, SMAP	Kinesin-associated protein 3	KIFAP3	22920	ENSG00000075945			Kifap3 (MGI:107566)
chr1	170532166	170553834	1q24.2	1q24.2	607983	GORAB, SCYL1BP1, NTKLBP1, GO	Golgin, RAB6-interacting	GORAB	92344	ENSG00000120370		Geroderma osteodysplasticum, 231070 (3), Autosomal recessive	Gorab (MGI:2138271)
chr1	170662768	170739421	1q24	1q24.2	167420	PRRX1, PMX1, PHOX1, AGOTC	Paired-related homeobox gene 1	PRRX1	5396	ENSG00000116132		Agnathia-otocephaly complex, 202650 (3), Autosomal recessive, Autosomal dominant	Prrx1 (MGI:97712)
chr1	171090905	171117819	1q23-q25	1q24.3	136132	FMO3, TMAU	Flavin-containing monooxygenase 3	FMO3	2328	ENSG00000007933		Trimethylaminuria, 602079 (3), Autosomal recessive	Fmo3 (MGI:1100496)
chr1	171185208	171212686	1q23-q25	1q24.3	603955	FMO2	Flavin-containing monooxygenase 2, pulmonary	FMO2	2327	ENSG00000094963	probably cluster of FMO genes at 1q23-q25		Fmo2 (MGI:1916776)
chr1	171248494	171285978	1q23-q25	1q24.3	136130	FMO1	Flavin-containing monooxygenase 1, fetal liver	FMO1	2326	ENSG00000010932			Fmo1 (MGI:1310002)
chr1	171314183	171342084	1q23-q25	1q24.3	136131	FMO4	Flavin-containing monooxygenase 2, adult liver	FMO4	2329	ENSG00000076258			Fmo4 (MGI:2429497)
chr1	171485530	171593511	1q24.3	1q24.3	617373	PRRC2C, KIAA1096	Proline-rich coiled-coil protein 3C	PRRC2C	23215	ENSG00000117523			Prrc2c (MGI:1913754)
chr1	171635417	171652688	1q24.3-q25.2	1q24.3	601652	MYOC, TIGR, GLC1A, JOAG, GPOA	Myocilin (trabecular meshwork-induced glucocorticoid response protein)	MYOC	4653	ENSG00000034971		Glaucoma 1A, primary open angle, 137750 (3), Autosomal dominant	Myoc (MGI:1202864)
chr1	171700160	171742065	1q24-q25	1q24.3	606909	VAMP24	Vesicle-associated membrane protein 4	VAMP4	8674	ENSG00000117533			Vamp4 (MGI:1858730)
chr1	171781660	171797716	1q24.3	1q24.3	617987	EEF1AKNMT, METTL13, FEAT, KIAA0859, DFNB26M	EEF1A lysine and N-terminal methyltransferase	METTL13	51603	ENSG00000010165	mutation identified in 1 family	{?Deafness, autosomal recessive 26, modifier of}, 605429 (3), Autosomal dominant	Mettl13 (MGI:1918699)
chr1	171841498	172418466	1q24.3	1q24.3	611445	DNM3, KIAA0820	Dynamin 3	DNM3	26052	ENSG00000197959			Dnm3 (MGI:1341299)
chr1	172138798	172138907	1q24.3	1q24.3	610721	MIR214, MIRN214	Micro RNA 214	MIR214	406996	ENSG00000283844			Mir214 (MGI:2676890)
chr1	172138808	172138888	1q24.3	1q24.3	614722	MIR3120	Micro RNA 3120	MIR3120	100422882	ENSG00000283152	in intron 13 of DNM3 in sense orientation		
chr1	172144535	172144644	1q24.3	1q24.3	610720	MIR199A2, MIRN199A2	Micro RNA 199A2	MIR199A2	406977	ENSG00000208024			Mir199a-2 (MGI:3618742)
chr1	172441457	172444069	1q23-q25	1q24.3	601730	PIGC, GPI2, GPIBD16, MRT62	Phosphatidylinositol glycan, class C	PIGC	5279	ENSG00000135845		Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3), Autosomal recessive	Pigc (MGI:1914542)
chr1	172532349	172611833	1q24	1q24.3	619434	SUCO, C1orf9	SUN domain-containing ossification factor	SUCO	51430	ENSG00000094975			Suco (MGI:2138346)
chr1	172659103	172666876	1q23	1q24.3	134638	FASLG, TNFSF6, APT1LG1, FASL, ALPS1B	Fas ligand (TNF superfamily, member 6)	FASLG	356	ENSG00000117560		Autoimmune lymphoproliferative syndrome, type IB, 601859 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant	Fasl (MGI:99255)
chr1	173000001	185800000	1q25		611154	AD14	Alzheimer disease 14		100188754		max lod at D1S218	{Alzheimer disease-14}, 611154 (2)	
chr1	173000001	185800000	1q25		608526	PDON2	Periodontitis, aggressive, 2		406237		between D1S196 and D1S533	Periodontitis, aggressive, 2, 608526 (2)	
chr1	173000001	185800000	1q25		611013	RGSL2	Regulator of G protein signaling-like 2				related to AD linked to 1q25		
chr1	173039202	173050941	1q23	1q25.1	603898	TNFSF18, AITRL, GITRL	Tumor necrosis factor ligand superfamily, member 18	TNFSF18	8995	ENSG00000120337			Tnfsf18 (MGI:2673064)
chr1	173172870	173450733	1q25	1q25.1	603594	TNFSF4, GP34, OX4OL	Tumor necrosis factor ligand superfamily, member 4	TNFSF4	7292	ENSG00000117586		{Myocardial infarction, susceptibility to}, 608446 (3)	Tnfsf4 (MGI:104511)
chr1	173477335	173488815	1q25.1	1q25.1	602316	PRDX6	Peroxiredoxin 6	PRDX6	9588	ENSG00000117592			Prdx6,Prdx6b (MGI:1336888,MGI:894320)
chr1	173500460	173603072	1q25.1	1q25.1	620338	SLC9C2, NHE11	Solute carrier family 9, member C2	SLC9C2	284525	ENSG00000162753			
chr1	173608336	173715185	1q25.1	1q25.1	618712	ANKRD45	Ankyrin repeat domain-containing protein 45	ANKRD45	339416	ENSG00000183831			Ankrd45 (MGI:1921094)
chr1	173714981	173786692	1q25.1	1q25.1	617679	KLHL20, KLEIP, KLHLX	Kelch-like 20	KLHL20	27252	ENSG00000076321			Klhl20 (MGI:2444855)
chr1	173799550	173824883	1q25.1	1q25.1	611503	CENPL	Centromeric protein L	CENPL	91687	ENSG00000120334			Cenpl (MGI:1917704)
chr1	173824673	173858546	1q25.1	1q25.1	610956	DARS2, ASPRS. LBSL	Aspartyl-tRNA synthetase 2	DARS2	55157	ENSG00000117593		Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3), Autosomal recessive	Dars2 (MGI:2442510)
chr1	173863901	173869045	1q23.3	1q25.1	608280	GAS5	Growth arrest-specific 5	GAS5	60674	ENSG00000234741			Gas5 (MGI:95659)
chr1	173903800	173917327	1q23-q25	1q25.1	107300	SERPINC1, AT3, AT3D, THPH7	Antithrombin III	SERPINC1	462	ENSG00000117601	~17cM distal to FY	Thrombophilia 7 due to antithrombin III deficiency, 613118 (3), Autosomal recessive, Autosomal dominant	Serpinc1 (MGI:88095)
chr1	173931084	174022357	1q25.1	1q25.1	609424	RC3H1, KIAA2025, IMDSHY	Roquin	RC3H1	149041	ENSG00000135870	mutation identified in 1 IMDSHY patient	?Immune dysregulation and systemic hyperinflammation syndrome, 618998 (3), Autosomal recessive	Rc3h1 (MGI:2685397)
chr1	174159520	174995308	1q25.1	1q25.1	609238	RABGAP1L, TBC1D18, KIAA0471	RAB GTPase-activating protein 1-like	RABGAP1L	9910	ENSG00000152061			Rabgap1l (MGI:1352507)
chr1	174447964	174449545	1q24	1q25.1	604106	GPR52	G protein-coupled receptor 52	GPR52	9293	ENSG00000203737			Gpr52 (MGI:3643278)
chr1	174999435	175012027	1q24-q25	1q25.1	606186	SIP	SIAH1-interacting protein	CACYBP	27101	ENSG00000116161			Cacybp (MGI:1270839)
chr1	175012958	175023425	1q23-q25	1q25.1	611978	MRPS14, COXPD38	Mitochondrial ribosomal protein S14	MRPS14	63931	ENSG00000120333	mutation identified in 1 COXPD38 patient	?Combined oxidative phosphorylation deficiency 38, 618378 (3), Autosomal recessive	Mrps14 (MGI:1928141)
chr1	175067833	175148075	1q25.1	1q25.1	617472	TNN	Tenascin N	TNN	63923	ENSG00000120332			Tnn (MGI:2665790)
chr1	175156986	175192987	1q25.1	1q25.1	616696	KIAA0040	KIAA0040 gene	KIAA0040	9674	ENSG00000235750			4930523C07Rik (MGI:1914897)
chr1	175315194	175743595	1q24	1q25.1	601995	TNR, NEDSTO	Tenascin R (restrictin, janusin)	TNR	7143	ENSG00000116147		Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, 619653 (3), Autosomal recessive	Tnr (MGI:99516)
chr1	175944831	176207286	1q24.1	1q25.1-q25.2	608067	RFWD2, COP1	RING finger- and WD repeat domain-containing protein 2	COP1	64326	ENSG00000143207	pseudogenes on chr. 3, 9, 18		Cop1 (MGI:1347046)
chr1	176100001	185800000	1q25.2-q25.3		615492	LINC-COX2	Long intergenic noncoding RNA COX2						
chr1	176463175	176845601	1q25.2	1q25.2	619485	PAPPA2, PAPPE, SSDA	Pappalysin 2	PAPPA2	60676	ENSG00000116183		Short stature, Dauber-Argente type, 619489 (3), Autosomal recessive	Pappa2 (MGI:3051647)
chr1	176857321	177164712	1q25	1q25.2	600904	ASTN1, ASTN	Astrotactin 1	ASTN1	460	ENSG00000152092			Astn1 (MGI:1098567)
chr1	177170958	177282422	1q24	1q25.2	619359	BRINP2	Bone morphogenetic protein/retinoic acid-inducible neural-specific protein 2	BRINP2	57795	ENSG00000198797			Brinp2 (MGI:2443333)
chr1	177928788	177984284	1q25.2	1q25.2	612855	SEC16B, LZTR2, RGPR, SEC16S	SEC16 homolog B, endoplasmic reticulum export factor	SEC16B	89866	ENSG00000120341			Sec16b (MGI:2148802)
chr1	178094104	178478850	1q25.2	1q25.2	606136	RASAL2, NGAP	Ras protein activator-like 2	RASAL2	9462	ENSG00000075391			Rasal2 (MGI:2443881)
chr1	178725244	178921840	1q25.2	1q25.2	617819	RALGPS2, FLJ10244	RAL guanine nucleotide exchange factor with PH domain and SH3 domain-binding motif 2	RALGPS2	55103	ENSG00000116191			Ralgps2 (MGI:1925505)
chr1	178849535	178871077	1q25.2	1q25.2	603874	ANGPTL1	Angiopoietin-like 1	ANGPTL1	9068	ENSG00000116194			Angptl1 (MGI:1919963)
chr1	179017334	179076567	1q25	1q25.2	611063	FAM20B	Family with sequence similarity 20, member B	FAM20B	9917	ENSG00000116199			Fam20b (MGI:2443990)
chr1	179082070	179095996	1q25-q31	1q25.2	607555	TOR3A, ADIR	Torsin family 3, member A (ATP-dependent interferon-responsive protein)	TOR3A	64222	ENSG00000186283			Tor3a (MGI:1353652)
chr1	179099330	179229677	1q24-q25	1q25.2	164690	ABL2, ABLL, ARG	ABL protooncogene 2, nonreceptor tyrosine kinase	ABL2	27	ENSG00000143322	fused with ETV6 in AML		Abl2 (MGI:87860)
chr1	179293797	179358680	1q25	1q25.2	102642	SOAT1, STAT, ACAT	Sterol O-acyltransferase 1 (acyl-Coenzyme A: cholesterol acyltransferase 1)	SOAT1	6646	ENSG00000057252			Soat1 (MGI:104665)
chr1	179550539	179575948	1q25-q31	1q25.2	604766	PDCN, NPHS2, SRN1	Podocin	NPHS2	7827	ENSG00000116218	modifies phenotype of NPHS1 mutations to FSGS	Nephrotic syndrome, type 2, 600995 (3), Autosomal recessive	Nphs2 (MGI:2157018)
chr1	179591613	179691272	1q25.2	1q25.2	617748	TDRD5, TUDOR3	Tudor domain-containing protein 5	TDRD5	163589	ENSG00000162782			Tdrd5 (MGI:2684949)
chr1	179727776	179816198	1q24.3	1q25.2	611727	C1orf76, NDSP	Neuroblastoma-derived secretory protein	FAM163A	148753	ENSG00000143340			Fam163a (MGI:3618859)
chr1	179839976	179877803	1q24	1q25.2	614513	TOR1AIP2, LULL1	Torsin A-interacting protein 2	TOR1AIP2	163590	ENSG00000169905			Tor1aip2 (MGI:3582695)
chr1	179882285	179920076	1q24	1q25.2	614512	TOR1AIP1, LAP1, LAP1B, LGMD2Y	Torsin 1A-interacting protein 1	TOR1AIP1	26092	ENSG00000143337	mutation identified in 1 MRRSDC family	?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3), Autosomal recessive	Tor1aip1 (MGI:3582693)
chr1	179954810	180114875	1q25.2	1q25.2	617870	CEP350, CAP350, KIAA0480	Centrosomal protein 350	CEP350	9857	ENSG00000135837			Cep350 (MGI:1921331)
chr1	180154869	180204030	1q24	1q25.2	603120	QSOX1	Quiescin Q6 sulfhydryl oxidase 1	QSOX1	5768	ENSG00000116260			Qsox1 (MGI:1330818)
chr1	180228375	180278984	1q25	1q25.2	602146	LHX4, CPHD4	LIM homeobox gene 4	LHX4	89884	ENSG00000121454	fused to IGH in ALL	Pituitary hormone deficiency, combined, 4, 262700 (3), Autosomal dominant	Lhx4 (MGI:101776)
chr1	180269653	180502577	1q25.3-q25.3	1q25.2-q25.3	616352	ACBD6, NEDPM	Acyl-CoA-binding domain-containing protein 6	ACBD6	84320	ENSG00000230124		Neurodevelopmental disorder with progressive movement abnormalities, 620785 (3), Autosomal recessive	Acbd6 (MGI:1919732)
chr1	180300001	185800000	1q25.3		610030	VDAC1P4	Voltage-dependent anion channel 1 pseudogene 4	VDAC1P4	7418				
chr1	180632022	180890279	1q25.1	1q25.3	605237	XPR1, SYG1, IBGC6	Xenotropic and polytropic retrovirus receptor	XPR1	9213	ENSG00000143324		Basal ganglia calcification, idiopathic, 6, 616413 (3), Autosomal dominant	Xpr1 (MGI:97932)
chr1	180972725	181022870	1q25.3	1q25.3	603944	STX6	Syntaxin 6	STX6	10228	ENSG00000135823			Stx6 (MGI:1926235)
chr1	181033387	181061938	1q25.3	1q25.3	600764	MR1, HLALS	Major histocompatibility complex, class I-related	MR1	3140	ENSG00000153029			Mr1 (MGI:1195463)
chr1	181088700	181092900	1q25.3	1q25.3	607177	IER5	Immediate-early response gene 5	IER5	51278	ENSG00000162783			Ier5 (MGI:1337072)
chr1	181317699	181808084	1q25-q31	1q25.3	601013	CACNA1E, CACNL1A6, DEE69	Calcium channel, voltage-dependent, alpha 1E subunit	CACNA1E	777	ENSG00000198216		Developmental and epileptic encephalopathy 69, 618285 (3), Autosomal dominant	Cacna1e (MGI:106217)
chr1	182378098	182391790	1q31	1q25.3	138290	GLUL, GLNS, DEE116	Glutamate-ammonia ligase (glutamine synthase)	GLUL	2752	ENSG00000135821	pseudogene on chr.9	Glutamine deficiency, congenital, 610015 (3), Autosomal recessive; Developmental and epileptic encephalopathy 116, 620806 (3), Autosomal dominant	Glul (MGI:95739)
chr1	182398117	182400667	1q25.3	1q25.3	620288	TEDDM1	Transmembrane epididymal protein 1	TEDDM1	127670	ENSG00000203730			Teddm1a,Teddm1b (MGI:2668439,MGI:3646829)
chr1	182447877	182560597	1q25	1q25.3	611012	RGSL1	Regulator of G protein signaling-like 1	RGSL1	353299	ENSG00000121446			Rgsl1 (MGI:2685048)
chr1	182573634	182589256	1q25	1q25.3	180435	RNASEL, RNS4, PRCA1, HPC1	Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	RNASEL	6041	ENSG00000135828		Prostate cancer 1, 601518 (3), Autosomal dominant	Rnasel (MGI:1098272)
chr1	182598623	182604389	1q25-q31	1q25.3	602514	RGS16	Regulator of G protein signaling-16	RGS16	6004	ENSG00000143333			Rgs16 (MGI:108407)
chr1	182641818	182752376	1q25.3	1q25.3	607189	RGS8	Regulator of G protein signaling 8	RGS8	85397	ENSG00000135824			Rgs8 (MGI:108408)
chr1	182789773	182830384	1q25	1q25.3	611412	NPL, C1orf13, C112	N-acetylneuraminate pyruvate lyase	NPL	80896	ENSG00000135838			Npl (MGI:1921341)
chr1	182839347	182887982	1q25	1q25.3	603115	DHX9, DDX9, NDHII, MRD75	DExH-box helicase 9	DHX9	1660	ENSG00000135829		Intellectual developmental disorder, autosomal dominant 75, 620988 (3), Autosomal dominant	Dhx9 (MGI:108177)
chr1	182899865	182953166	1q25.3	1q25.3	619514	SHCBP1L, C1orf14	SHC-binding and spindle-associated protein 1-like	SHCBP1L	81626	ENSG00000157060			Shcbp1l (MGI:1919086)
chr1	183023420	183145592	1q31	1q25.3	150290	LAMC1, LAMB2	Laminin, gamma-1 (formerly LAMB2)	LAMC1	3915	ENSG00000135862	at least 3 genes, ?linked		Lamc1 (MGI:99914)
chr1	183186264	183258968	1q25-q31	1q25.3	150292	LAMC2, LAMNB2, LAMB2T, JEB3A, JEB3B	Laminin, gamma-2 (nicein, 100kD; kalinin, 105kD; BM600, 100kD)	LAMC2	3918	ENSG00000058085		Epidermolysis bullosa, junctional 3B, severe, 619786 (3), Autosomal recessive; Epidermolysis bullosa, junctional 3A, intermediate, 619785 (3), Autosomal recessive	Lamc2 (MGI:99913)
chr1	183248237	183418380	1q25.3	1q25.3	608701	NMNAT2, PNAT2, KIAA0479	Nicotinamide nucleotide adenylyltransferase 2	NMNAT2	23057	ENSG00000157064			Nmnat2 (MGI:2444155)
chr1	183472499	183554191	1q25	1q25.3	610964	SMG7, EST1C, KIAA0250	SMG7 nonsense-mediated mRNA decay factor	SMG7	9887	ENSG00000116698			Smg7 (MGI:2682334)
chr1	183555562	183601849	1q25	1q25.3	608515	NCF2	Neutrophil cytosolic factor-2, 65kD	NCF2	4688	ENSG00000116701		Chronic granulomatous disease 2, autosomal recessive, 233710 (3), Autosomal recessive	Ncf2 (MGI:97284)
chr1	183620846	183635783	1q25.3	1q25.3	604227	ARPC5, ARC16, IMD113	Actin-related protein 2/3 complex, subunit 5	ARPC5	10092	ENSG00000162704		Immunodeficiency 113 with autoimmunity and autoinflammation, 620565 (3), Autosomal recessive	Arpc5 (MGI:1915021)
chr1	183636109	183928532	1q25.3	1q25.3	605667	RGL1, RGL	Ral guanine nucleotide dissociation stimulator-like 1	RGL1	23179	ENSG00000143344			Rgl1 (MGI:107484)
chr1	183646275	183653316	1q25.3	1q25.3	609908	APOBEC4	Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 4	APOBEC4	403314	ENSG00000173627			Apobec4 (MGI:1918531)
chr1	183929662	184037728	1q25.3	1q25.3	617533	COLGALT2, GLT25D2, KIAA0584	Collagen beta(1-0)galactosyltransferase 2	COLGALT2	23127	ENSG00000198756			Colgalt2 (MGI:2138232)
chr1	184051730	184097485	1q25	1q25.3	608756	TSEN15, SEN15, C1orf19, PCH2F	tRNA splicing endonuclease, subunit 15	TSEN15	116461	ENSG00000198860		Pontocerebellar hypoplasia, type 2F, 617026 (3), Autosomal recessive	Tsen15 (MGI:1913887)
chr1	184690237	184754858	1q25.3	1q25.3	610214	EDEM3, C1orf22, CDG2V	Endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 3	EDEM3	80267	ENSG00000116406		Congenital disorder of glycosylation, type IIv, 619493 (3), Autosomal recessive	Edem3 (MGI:1914217)
chr1	184791032	184974508	1q25	1q25.3	619294	NIBAN1, C1orf24	Niban apoptosis regulator 1	NIBAN1	116496	ENSG00000135842			Niban1 (MGI:2137237)
chr1	185045558	185102603	1q25.3	1q25.3	608985	RNF2, RING2, RING1B, HIPI3, DING, BAP1, LUSYAM	RING finger protein 2	RNF2	6045	ENSG00000121481		Luo-Schoch-Yamamoto syndrome, 619460 (3), Autosomal dominant	Rnf2 (MGI:1101759)
chr1	185118101	185157537	1q25	1q25.3	611673	TRMT1L, C1orf25, TRM1L	tRNA methyltransferase 1-like	TRMT1L	81627	ENSG00000121486			Trmt1l (MGI:1916185)
chr1	185157060	185291781	1q25.3	1q25.3	619513	SWT1, C1orf26	SWT1 RNA endoribonuclease homolog	SWT1	54823	ENSG00000116668			Swt1 (MGI:1914125)
chr1	185296388	185317243	1q25.3	1q25.3	609209	IVNS1ABP, NS1BP, ND1, IMD70	Influenza virus NS1A protein-binding protein	IVNS1ABP	10625	ENSG00000116679		Immunodeficiency 70, 618969 (3), Autosomal dominant	Ivns1abp (MGI:2152389)
chr1	185734391	186190949	1q24-q25	1q25.3-q31.1	608548	HMCN1, FBLN6, FIBL6, ARMD1	Hemicentin (fibulin 6)	HMCN1	83872	ENSG00000143341		{Macular degeneration, age-related, 1}, 603075 (3), Autosomal dominant	Hmcn1 (MGI:2685047)
chr1	185800001	198700000	1q31		120502	BOS2	Branchiootic syndrome 2		64585			Branchiootic syndrome 2, 120502 (2), Autosomal dominant	
chr1	185800001	198700000	1q31		612005	CELIAC7	Celiac disease, susceptibility to, 7		100301522		associated with rs2816316	{Celiac disease, susceptibility to, 7}, 612005 (2)	
chr1	185800001	198700000	1q31		607516	MGR6, FHM3	Migraine, several forms		317773			{Migraine with or without aura, susceptibility to, 6}, 607516 (2), Autosomal dominant; {Migraine, familial hemiplegic, 4}, 607516 (2), Autosomal dominant	
chr1	185800001	236400000	1q31-q42		145260	PHA2A, PHA2	Pseudohypoaldosteronism type IIA		7830			Pseudohypoaldosteronism, type IIA, 145260 (2), Autosomal dominant	
chr1	185800001	190800000	1q31.1		609454	PSNP2	Supranuclear palsy, progressive, 2		619408		between D1S238 and D1S2823	Supranuclear palsy, progressive, 2, 609454 (2), Autosomal dominant	
chr1	185800001	198700000	1q31		176780	PVOP1	Pelvic organ prolapse, susceptibility to, 1		100312952		associated with rs10911193	{Pelvic organ prolapse, susceptibility to, 1}, 176780 (2), Autosomal dominant	
chr1	186296273	186314567	1q24-q25	1q31.1	604283	PRG4, CACP, MSF, SZP, HAPO	Proteoglycan 4 (megakaryocyte stimulating factor; hemangiopoietin)	PRG4	10216	ENSG00000116690		Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3), Autosomal recessive	Prg4 (MGI:1891344)
chr1	186311652	186375253	1q25	1q31.1	189940	TPR, MRT79	Tumor potentiating region (translocated promoter region)	TPR	7175	ENSG00000047410	mutation identified in 1 MRT79 family	?Intellectual developmental disorder, autosomal recessive 79, 620393 (3), Autosomal recessive	Tpr (MGI:1922066)
chr1	186375838	186435031	1q31.1	1q31.1	609335	ODR4, C1orf27	odr-4 GPCR localization factor homolog	ODR4	54953	ENSG00000157181			Odr4 (MGI:2385108)
chr1	186443566	186461114	1q25-q31.1	1q31.1	171490	PDC	Phosducin, pineal gland	PDC	5132	ENSG00000116703			Pdc (MGI:98090)
chr1	186671791	186680423	1q25.2-q25.3	1q31.1	600262	PTGS2	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	PTGS2	5743	ENSG00000073756			Ptgs2 (MGI:97798)
chr1	186680654	186681446	1q31.1	1q31.1	617650	PACERR, PTGS2AS1	PTGS2 antisense NFKB1 complex-mediated expression regulator RNA, noncoding	PACERR	103752588				
chr1	186828949	186988981	1q25	1q31.1	600522	PLA2G4A, PLA2G4, GURDP	Phospholipase A2, group IVA, cytosolic	PLA2G4A	5321	ENSG00000116711		Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3), Autosomal recessive	Pla2g4a (MGI:1195256)
chr1	190097658	190477864	1q31.1	1q31.1	618390	BRINP3, FAM5C	Bone morphogenetic protein/retionoic acid-inducible neural-specific protein 3	BRINP3	339479	ENSG00000162670			Brinp3 (MGI:2443035)
chr1	192158462	192185815	1q31.2	1q31.2	607192	RGS18	Regulator of G protein signaling 18	RGS18	64407	ENSG00000150681			Rgs18 (MGI:1927498)
chr1	192316992	192367285	1q31.2	1q31.2	612407	RGS21	Regulator of G protein signaling 21	RGS21	431704	ENSG00000253148			Rgs21 (MGI:3645243)
chr1	192575773	192580024	1q31	1q31.2	600323	RGS1, IER1, IR20	Regulator of G-protein signaling 1	RGS1	5996	ENSG00000090104			Rgs1 (MGI:1354694)
chr1	192636147	192660311	1q31.2	1q31.2	607190	RGS13	Regulator of G protein signaling 13	RGS13	6003	ENSG00000127074			Rgs13 (MGI:2180585)
chr1	192809039	192812275	1q31	1q31.2	600861	RGS2, G0S8	G0 to G1 switch regulatory 8, 24kD	RGS2	5997	ENSG00000116741			Rgs2 (MGI:1098271)
chr1	193012254	193060076	1q32	1q31.2	610667	UCHL5, UCH37	Ubiquitin carboxyl-terminal hydrolase L5	UCHL5	51377	ENSG00000116750			Uchl5 (MGI:1914848)
chr1	193059612	193091777	1q31	1q31.2	600063	TROVE2, RO60, SSA2	TROVE domain family, member 2	RO60	6738	ENSG00000116747			Ro60 (MGI:106652)
chr1	193096465	193106114	1q31.2-q31.3	1q31.2	606820	GLRX2, GRX2	Glutaredoxin 2	GLRX2	51022	ENSG00000023572			Glrx2 (MGI:1916617)
chr1	193122031	193254815	1q25-q31	1q31.2	607393	CDC73, HRPT2, C1orf28	Cell division cycle 73	CDC73	79577	ENSG00000134371		Hyperparathyroidism, familial primary, 145000 (3), Autosomal dominant; Parathyroid adenoma with cystic changes, 145001 (3), Autosomal dominant; Parathyroid carcinoma, 608266 (3); Hyperparathyroidism-jaw tumor syndrome, 145001 (3), Autosomal dominant	Cdc73 (MGI:2384876)
chr1	193178730	193186613	1q31	1q31.2	603018	B3GALT2, GLCT2	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 2	B3GALT2	8707	ENSG00000162630			B3galt2 (MGI:1349461)
chr1	196225779	196608440	1q31.3	1q31.3	610044	KCNT2, SLICK, DEE57	Potassium channel, subfamily T, member 2	KCNT2	343450	ENSG00000162687		Developmental and epileptic encephalopathy 57, 617771 (3), Autosomal dominant	Kcnt2 (MGI:3036273)
chr1	196652043	196747504	1q32	1q31.3	134370	CFH, HF1, HUS, ARMD4, AHUS1	Complement factor H	CFH	3075	ENSG00000000971		{Macular degeneration, age-related, 4}, 610698 (3), Autosomal dominant; Basal laminar drusen, 126700 (3), Autosomal dominant; Complement factor H deficiency, 609814 (3), Autosomal recessive, Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3), Autosomal recessive, Autosomal dominant	Cfh,Cfhr4 (MGI:3646434,MGI:88385)
chr1	196774840	196795407	1q31-q32.1	1q31.3	605336	CFHR3, FHR3, HLF4, CFHL3	Complement factor H-related 3	CFHR3	10878	ENSG00000116785		{Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant	Cfhr2 (MGI:3611575)
chr1	196819731	196832189	1q31-q32.1	1q31.3	134371	CFHR1, FHR1, HFL1, CFHL1	Complement factor H-related 1	CFHR1	3078	ENSG00000244414		{Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant	Cfhr1 (MGI:2138169)
chr1	196888052	196918633	1q31-q32.1	1q31.3	605337	CFHR4, FHR4, CFHL4	Complement factor H-related 4	CFHR4	10877	ENSG00000134365			
chr1	196943738	196959622	1q31-q32.1	1q31.3	600889	CFHR2, FHR2, HFL3, CFHL2	Complement factor H-related 2	CFHR2	3080	ENSG00000080910	in same 165kb YAC as F13B		Cfhr1 (MGI:2138169)
chr1	196975034	197009678	1q32	1q31.3	608593	CFHR5, CFHL5, FHR5, CFHR5D	Complement factor H-related 5	CFHR5	81494	ENSG00000134389		Nephropathy due to CFHR5 deficiency, 614809 (3), Autosomal dominant	
chr1	197038741	197067260	1q31-q32.1	1q31.3	134580	F13B	Coagulation factor XIII, B polypeptide	F13B	2165	ENSG00000143278		Factor XIIIB deficiency, 613235 (3), Autosomal recessive	F13b (MGI:88379)
chr1	197084127	197146669	1q31	1q31.3	605481	ASPM, MCPH5	Abnormal spindle-like, microcephaly-associated	ASPM	259266	ENSG00000066279		Microcephaly 5, primary, autosomal recessive, 608716 (3), Autosomal recessive	Aspm (MGI:1334448)
chr1	197201504	197478455	1q31-q32.1	1q31.3	604210	CRB1, RP12, LCA8	Crumbs cell polarity complex component 1	CRB1	23418	ENSG00000134376		Leber congenital amaurosis 8, 613835 (3), Autosomal recessive; Retinitis pigmentosa-12, 600105 (3), Autosomal recessive; Pigmented paravenous chorioretinal atrophy, 172870 (3), Autosomal dominant	Crb1 (MGI:2136343)
chr1	197504748	197782150	1q31.3	1q31.3	613292	DENND1B, FAM31B, C1orf18	DENN/MADD domain-containing 1B	DENND1B	163486	ENSG00000213047			Dennd1b (MGI:2447812)
chr1	197912464	197935478	1q31-q32	1q31.3	606066	LHX9	LIM homeobox gene 9	LHX9	56956	ENSG00000143355			Lhx9 (MGI:1316721)
chr1	198156998	198322420	1q31.3	1q31.3	606848	NEK7	NIMA-related kinase 7	NEK7	140609	ENSG00000151414			Nek7 (MGI:1890645)
chr1	198523222	198540945	1q31.2-q31.3	1q31.3	618071	ATP6V1G3	ATPase, H+ transporting, V1 subunit G3	ATP6V1G3	127124	ENSG00000151418			Atp6v1g3 (MGI:2450548)
chr1	198638713	198757476	1q31-q32	1q31.3-q32.1	151460	PTPRC, CD45, LCA, IMD105	Protein tyrosine phosphatase, receptor type, c polypeptide	PTPRC	5788	ENSG00000081237		Immunodeficiency 105, severe combined, 619924 (3), Autosomal recessive	Ptprc (MGI:97810)
chr1	198700001	214400000	1q32		137950	GFND1	Glomerulopathy with fibronectin deposits 1		100689213		max lod at D1S2782	Glomerulopathy with fibronectin deposits 1, 137950 (2), Autosomal dominant	
chr1	198700001	236400000	1q32.1-q42		139280	GUK2	Guanylate kinase-2	GUK2	2988		genetic independence of GUK1 and GUK2 unproved		
chr1	198700001	207100000	1q32.1		612381	IBD23	Inflammatory bowel disease 23		100240733		associated with rs3024505	{Inflammatory bowel disease 23}, 612381 (2)	
chr1	198700001	214400000	1q32		614826	NYS7	Nystagmus 7, congenital, autosomal dominant				disruption of TADs on 1q32	Nystagmus 7, congenital, autosomal dominant, 614826 (4), Autosomal dominant	
chr1	198700001	214400000	1q32		613164	PARK16	Parkinson disease 16		100359403		associated with rs823128	{Parkinson disease 16}, 613164 (2)	
chr1	198700001	214400000	1q32		140400	PFHB2	Progressive familial heart block, type II		105463127		between D1S70 and D1S505	Progressive familial heart block, type II, 140400 (2), Autosomal dominant	
chr1	198858873	198858982	1q31.3	1q32.1	612744	MIR181B1, MIRN181B1	Micro RNA 181B1	MIR181B1	406955	ENSG00000207975			Mir181b-1 (MGI:3618735)
chr1	198859044	198859153	1q31.3	1q32.1	612742	MIR181A1, MIR213, MIRN181A1	Micro RNA 181A1	MIR181A1	406995	ENSG00000207759			Mir181a-1 (MGI:3629589)
chr1	200027710	200177415	1q32.1	1q32.1	604453	NR5A2, FTF, HB1F	Nuclear receptor subfamily 5, group A, member 2 (fetoprotein transcription factor)	NR5A2	2494	ENSG00000116833			Nr5a2 (MGI:1346834)
chr1	200404951	200410036	1q32.1	1q32.1	618703	ZNF281, ZBP99, GZP1	Zinc finger ptoein 281	ZNF281	23528	ENSG00000162702			Zfp281 (MGI:3029290)
chr1	200551497	200620751	1q31	1q32.1	611279	KIF14, KIAA0042, MKS12, MCPH20	Kinesin family member 14	KIF14	9928	ENSG00000118193	mutation identified in 1 MKS12 family	Microcephaly 20, primary, autosomal recessive, 617914 (3), Autosomal recessive; ?Meckel syndrome 12, 616258 (3), Autosomal recessive	Kif14 (MGI:1098226)
chr1	200640805	200669907	1q32.1	1q32.1	615464	DDX59, OFD5	DEAD-box helicase 59	DDX59	83479	ENSG00000118197		Orofaciodigital syndrome V, 174300 (3), Autosomal recessive	Ddx59 (MGI:1915247)
chr1	200738893	200860704	1q32.1	1q32.1	613775	CAMSAP1L, CAMSAP2, KIAA1078	Calmodulin-regulated spectrin-associated protein 1-like 1	CAMSAP2	23271	ENSG00000118200			Camsap2 (MGI:1922434)
chr1	200872981	200874178	1q32.1	1q32.1	602174	GPR25	G protein-coupled receptor-25	GPR25	2848	ENSG00000170128			Gpr25 (MGI:2686146)
chr1	200891531	200915742	1q32.1	1q32.1	618051	INAVA, C1orf106, IBD29	Innate immunity activator	INAVA	55765	ENSG00000163362		{Inflammatory bowel disease 29}, 618077 (3), Autosomal dominant	Inava (MGI:1921579)
chr1	200969390	201023714	1q31-q32	1q32.1	608322	KIF21B, KIAA0449	Kinesin family member 21B	KIF21B	23046	ENSG00000116852			Kif21b (MGI:109234)
chr1	201039512	201112426	1q32	1q32.1	114208	CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1, MHS5, CMYO18	Calcium channel, voltage-dependent, L type, alpha 1S subunit	CACNA1S	779	ENSG00000081248		{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3), Autosomal dominant; Congenital myopathy 18 due to dihydropyridine receptor defect, 620246 (3), Autosomal recessive, Autosomal dominant; Hypokalemic periodic paralysis, type 1, 170400 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 5}, 601887 (3), Autosomal dominant	Cacna1s (MGI:88294)
chr1	201113943	201127184	1q32.1	1q32.1	620809	ASCL5, AMELOD	Achaete-scute family bHLH transcription factor 5	ASCL5	647219	ENSG00000232237			Ascl5 (MGI:2685043)
chr1	201134772	201171558	1q41	1q32.1	616877	TMEM9, TMEM9A, DERM4	Transmembrane protein 9	TMEM9	252839	ENSG00000116857			Tmem9 (MGI:1913491)
chr1	201190824	201228952	1q32.1	1q32.1	617309	IGFN1, EEF1A2BP1	Immunoglobulin-like and fibronectin type III domains-containing protein 1	IGFN1	91156	ENSG00000163395			Igfn1 (MGI:3045352)
chr1	201283506	201332989	1q32	1q32.1	601975	PKP1, EDSFS	Plakophilin-1	PKP1	5317	ENSG00000081277		Ectodermal dysplasia/skin fragility syndrome, 604536 (3), Autosomal recessive	Pkp1 (MGI:1328359)
chr1	201359014	201377680	1q32	1q32.1	191045	TNNT2, CMH2, CMD1D, RCM3, LVNC6	Troponin-T2, cardiac	TNNT2	7139	ENSG00000118194		Cardiomyopathy, dilated, 1D, 601494 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 2, 115195 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 3, 612422 (3), Autosomal dominant; Left ventricular noncompaction 6, 601494 (3), Autosomal dominant	Tnnt2 (MGI:104597)
chr1	201380833	201399324	1q25.1-q32.3	1q32.1	602314	LAD1	Ladinin	LAD1	3898	ENSG00000159166			Lad1 (MGI:109343)
chr1	201403784	201421730	1q31.3	1q32.1	191042	TNNI1	Troponin-I, skeletal, slow	TNNI1	7135	ENSG00000159173			Tnni1 (MGI:105073)
chr1	201464278	201469188	1q31	1q32.1	607054	PHLDA3, TIH1	Pleckstrin homology-like domain, family A, member 3	PHLDA3	23612	ENSG00000174307			Phlda3 (MGI:1351485)
chr1	201483530	201507123	1q32	1q32.1	123876	CSRP1, CSRP	Cysteine and glycine-rich protein-1	CSRP1	1465	ENSG00000159176			Csrp1 (MGI:88549)
chr1	201539127	201826969	1q31	1q32.1	611628	NAV1, POMFIL3, KIAA1151	Neuron navigator 1	NAV1	89796	ENSG00000134369			Nav1 (MGI:2183683)
chr1	201808611	201808702	1q32.1	1q32.1	617040	MIR1231	Micro RNA 1231	MIR1231	100302158	ENSG00000221028			Mir1231 (MGI:5453497)
chr1	201829157	201884291	1q32.1	1q32.1	620893	IPO9, IMP9, RANBP9	Importin 9	IPO9	55705	ENSG00000198700			Ipo9 (MGI:1918944)
chr1	201888677	201892587	1q32.1	1q32.1	617326	SHISA4, C1orf40, TMEM58	Shisa family, member 4	SHISA4	149345	ENSG00000198892			Shisa4 (MGI:1924802)
chr1	201896456	201946548	1q32	1q32.1	602715	LMOD1, SMLMOD, 1D, MMIHS3	Leiomodin 1	LMOD1	25802	ENSG00000163431	mutation identified in 1 MMIHD3 patient	?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, 619362 (3), Autosomal recessive	Lmod1 (MGI:2135671)
chr1	201955503	201970664	1q32	1q32.1	605057	TIMM17A, TIM17A	Translocase of inner mitochondrial membrane 17A	TIMM17A	10440	ENSG00000134375			Timm17a (MGI:1343131)
chr1	201982648	202006143	1q32.1-q32.2	1q32.1	602675	RNPEP	Arginyl aminopeptidase (aminopeptidase B)	RNPEP	6051	ENSG00000176393			Rnpep (MGI:2384902)
chr1	202010587	202017183	1q32	1q32.1	602191	ELF3, ESX	E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific)	ELF3	1999	ENSG00000163435			Elf3 (MGI:1101781)
chr1	202122917	202133592	1q32.1	1q32.1	617630	GPR37L1, ETBRLP2	G protein-coupled receptor 37-like 1	GPR37L1	9283	ENSG00000170075			Gpr37l1 (MGI:1928503)
chr1	202133404	202144737	1q32.1	1q32.1	616597	ARL8A, GIE2	ADP ribosylation factor-like GTPase 8A	ARL8A	127829	ENSG00000143862			Arl8a (MGI:1915974)
chr1	202147013	202161588	1q32.1	1q32.1	176889	PTPN7	Protein tyrosine phosphatase, nonreceptor-type, 7	PTPN7	5778	ENSG00000143851			Ptpn7 (MGI:2156893)
chr1	202193799	202319761	1q32	1q32.1	606653	LGR6	Leucine-rich repeat-containing G protein-coupled receptor-6	LGR6	59352	ENSG00000133067			Lgr6 (MGI:2441805)
chr1	202331657	202341936	1q31	1q32.1	610538	UBE2T, HSPC150, FANCT	Ubiquitin-conjugating enzyme E2 T	UBE2T	29089	ENSG00000077152		Fanconi anemia, complementation group T, 616435 (3), Autosomal recessive	Ube2t (MGI:1914446)
chr1	202348699	202592702	1q32.1	1q32.1	603768	PPP1R12B, MYPT2	Protein phosphatase 1, regulatory subunit 12B (myosin phosphatase target subunit 2)	PPP1R12B	4660	ENSG00000077157			Ppp1r12b (MGI:1916417)
chr1	202590596	202710454	1q32.1	1q32.1	600104	SYT2, CMS7A, MYSPC, CMS7B	Synaptotagmin-2	SYT2	127833	ENSG00000143858		Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, 616040 (3), Autosomal dominant; Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, 619461 (3), Autosomal recessive	Syt2 (MGI:99666)
chr1	202724495	202808421	1q32	1q32.1	605393	KDM5B, JARID1B, PUT1, PLU1, RBBP2H1A, MRT65	Lysine-specific demethylase 5B	KDM5B	10765	ENSG00000117139		Intellectual developmental disorder, autosomal recessive 65, 618109 (3), Autosomal recessive	Kdm5b (MGI:1922855)
chr1	202878282	202889149	1q32-q41	1q32.1	603417	RABIF, RASGFR3, MSS4	Rab-interacting factor (Ras-specific guanine-releasing factor-3; mammalian suppressor of SEC4)	RABIF	5877	ENSG00000183155			Rabif (MGI:2138605)
chr1	202891120	202928599	1q32.1	1q32.1	614522	KLHL12, DKIR	Kelch-like 12	KLHL12	59349	ENSG00000117153			Klhl12 (MGI:2385619)
chr1	202940825	202958572	1q32.1	1q32.1	607945	ADIPOR1, CGI45	Adiponectin receptor 1	ADIPOR1	51094	ENSG00000159346			Adipor1 (MGI:1919924)
chr1	202961873	202967257	1q32	1q32.1	608341	CYB5BR1, NQO3A2, B5R.1	Cytochrome b5 reductase 1	CYB5R1	51706	ENSG00000159348			Cyb5r1 (MGI:1919267)
chr1	203026491	203078736	1q32.1	1q32.1	603145	PPFIA4	PTPRF-interacting protein alpha-4	PPFIA4	8497	ENSG00000143847			Ppfia4 (MGI:1915757)
chr1	203083129	203086012	1q31-q41	1q32.1	159980	MYOG, MYF4	Myogenic factor-4; myogenin	MYOG	4656	ENSG00000122180			Myog (MGI:97276)
chr1	203127726	203167405	1q32.1	1q32.1	102775	ADORA1, RDC7	Adenosine A1 receptor	ADORA1	134	ENSG00000163485			Adora1 (MGI:99401)
chr1	203167811	203179214	1q32.1	1q32.1	160795	MYBPH	Myosin-binding protein H	MYBPH	4608	ENSG00000133055			Mybph (MGI:1858196)
chr1	203178931	203186704	1q32.1	1q32.1	601525	CHI3L1, GP39, YKL40, ASRT7	Chitinase 3-like 1 (cartilage glycoprotein-39)	CHI3L1	1116	ENSG00000133048		{Asthma-related traits, susceptibility to, 7}, 611960 (3); {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant	Chi3l1 (MGI:1340899)
chr1	203216079	203230099	1q31-q32	1q32.1	600031	CHIT1, CHIT, CHITD	Chitinase 1	CHIT1	1118	ENSG00000133063		[Chitotriosidase deficiency], 614122 (3), Autosomal recessive	Chit1 (MGI:1919134)
chr1	203305519	203309602	1q32	1q32.1	601597	BTG2, PC3	BTG antiproliferation factor 2	BTG2	7832	ENSG00000159388			Btg2 (MGI:108384)
chr1	203340628	203351122	1q32.1	1q32.1	600245	FMOD	Fibromodulin	FMOD	2331	ENSG00000122176			Fmod (MGI:1328364)
chr1	203404733	203407625	1q32.1	1q32.1	618553	BMNCR	Bone marrow associated noncoding RNA	BMNCR	107985249				Bmncr (MGI:5590788)
chr1	203475806	203491352	1q32	1q32.1	601914	PRELP	Proline arginine-rich end leucine-rich repeat protein	PRELP	5549	ENSG00000188783			Prelp (MGI:2151110)
chr1	203494153	203508949	1q32.1	1q32.1	605127	OPTC	Opticin	OPTC	26254	ENSG00000188770			Optc (MGI:2151113)
chr1	203626832	203744081	1q25-q32	1q32.1	108732	ATP2B4, ATP2B2, PMCA4	ATPase, Ca++ transporting, plasma membrane, 4	ATP2B4	493	ENSG00000058668			Atp2b4 (MGI:88111)
chr1	203765183	203776372	1q32.1	1q32.1	619622	LAX1, LAX	Lymphocyte transmembrane adaptor 1	LAX1	54900	ENSG00000122188			Lax1 (MGI:2443362)
chr1	203795623	203854124	1q32.1	1q32.1	613512	ZBED6	Zinc finger BED domain-containing protein 6	ZBED6	100381270	ENSG00000257315	in intron 1 of ZC3H11A		Zbed6 (MGI:3828086)
chr1	203795623	203854124	1q32.1	1q32.1	613513	ZC3H11A, KIAA0663	Zinc finger CCCH domain-containing protein 11A	ZC3H11A	9877	ENSG00000058673			Zc3h11a (MGI:1917829)
chr1	203861599	203871152	1q32	1q32.1	128260	SNRPE, HYPT11	Small nuclear ribonucleoprotein polypeptide E	SNRPE	6635	ENSG00000182004		Hypotrichosis 11, 615059 (3), Autosomal dominant	Snrpe,Snrpert (MGI:3650419,MGI:98346)
chr1	204073115	204127743	1q32	1q32.1	604748	SOX13, ICA12	SRY-box 13	SOX13	9580	ENSG00000143842			Sox13 (MGI:98361)
chr1	204131062	204152044	1q32.1	1q32.1	609859	ETNK2, EKI2	Ethanolamine kinase 2	ETNK2	55224	ENSG00000143845			Etnk2 (MGI:2443760)
chr1	204154819	204166337	1q32	1q32.1	179820	REN, RTD, ADTKD4	Renin	REN	5972	ENSG00000143839	~24cM distal to AT3	Renal tubular dysgenesis, 267430 (3), Autosomal recessive; [Hyperproreninemia] (3); Tubulointerstitial kidney disease, autosomal dominant, 4, 613092 (3), Autosomal dominant	Ren1,Ren2 (MGI:97898,MGI:97899)
chr1	204190341	204196491	1q32	1q32.1	603286	KISS1, HH13	KISS1 metastasis suppressor	KISS1	3814	ENSG00000170498	mutation identified in 1 HH13 family	?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3), Autosomal recessive	Kiss1 (MGI:2663985)
chr1	204198163	204213988	1q32.1	1q32.1	620633	GOLT1A, GOT1B	Golbi transport 1A	GOLT1A	127845	ENSG00000174567			Golt1a (MGI:1915588)
chr1	204218853	204378168	1q32.1	1q32.1	607771	PEPP3, KIAA0969	Phosphatidylinositol 3-phosphate-binding PH domain protein 3	PLEKHA6	22874	ENSG00000143850			Plekha6 (MGI:2388662)
chr1	204395826	204411817	1q32.1	1q32.1	613257	PPP1R15B, CREP, MSSGM2	Protein phosphatase 1, regulatory subunit 15B	PPP1R15B	84919	ENSG00000158615		Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3), Autosomal recessive	Ppp1r15b (MGI:2444211)
chr1	204422633	204494805	1q32	1q32.1	602838	PIK3C2B	Phosphatidylinositol 3-kinase, class 2, beta polypeptide	PIK3C2B	5287	ENSG00000133056			Pik3c2b (MGI:2685045)
chr1	204516406	204558120	1q32	1q32.1	602704	MDM4, BMFS6	MDM4 regulator of p53	MDM4	4194	ENSG00000198625	mutation identified in 1 BMFS6 family	?Bone marrow failure syndrome 6, 618849 (3), Autosomal dominant	Mdm4 (MGI:107934)
chr1	204617170	204685738	1q32.1	1q32.1	605492	LRRN2, GAC1, LRANK1	Leucine-rich repeat protein, neuronal, 2	LRRN2	10446	ENSG00000170382			Lrrn2 (MGI:106037)
chr1	204828652	205022822	1q32.1	1q32.1	609145	NFASC, KIAA0756, NEDCPMD	Neurofascin	NFASC	23114	ENSG00000163531		Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3), Autosomal recessive	Nfasc (MGI:104753)
chr1	205042949	205078289	1q32.1	1q32.1	190197	CNTN2, TAX, TAX1, EPEO5	Contactin 2 (transiently-expressed axonal glycoprotein)	CNTN2	6900	ENSG00000184144	1 family identified with mutation	Epilepsy, early-onset, 5, with or without developmental delay, 615400 (3), Autosomal recessive	Cntn2 (MGI:104518)
chr1	205086142	205121978	1q32	1q32.1	600697	RBBP5, RBQ3	Retinoblastoma-binding protein-5	RBBP5	5929	ENSG00000117222			Rbbp5 (MGI:1918367)
chr1	205142505	205211702	1q32.1	1q32.1	612666	DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1, SPG23	Dual serine/threonine and tyrosine protein kinase	DSTYK	25778	ENSG00000133059		Spastic paraplegia 23, autosomal recessive, 270750 (3), Autosomal recessive; Congenital anomalies of kidney and urinary tract 1, 610805 (3), Autosomal dominant	Dstyk (MGI:1925064)
chr1	205227946	205273343	1q32.1	1q32.1	619429	TMCC2	Transmembrane and coiled-coil domain family, member 2	TMCC2	9911	ENSG00000133069			Tmcc2 (MGI:1916125)
chr1	205302063	205321745	1q32	1q32.1	608131	NUAK2, SNARK, ANPH2	NUAK family, SNF1-like kinase, 2	NUAK2	81788	ENSG00000163545	mutation identified in 1 ANPH2 family	?Anencephaly 2, 619452 (3), Autosomal recessive	Nuak2 (MGI:1921387)
chr1	205336061	205357039	1q32.1	1q32.1	614503	KLHDC8A	Kelch domain-containing protein 8A	KLHDC8A	55220	ENSG00000162873			Klhdc8a (MGI:2442630)
chr1	205381378	205449966	1q32.1	1q32.1	610480	LEMD1	LEM domain-containing protein 1	LEMD1	93273	ENSG00000186007			Lemd1 (MGI:1922403)
chr1	205434886	205456045	1q32.1	1q32.1	615480	BLACAT1, LINC00912	Bladder cancer-associated transcript 1, noncoding	BLACAT1	101669762	ENSG00000281406			
chr1	205448302	205448398	1q32.1	1q32.1	619560	MIR135B	Micro RNA 135B	MIR135B	442891	ENSG00000199059			Mir135b (MGI:3618732)
chr1	205504669	205532790	1q31-q32	1q32.1	169190	CDK18, PCTK3	Cyclin-dependent kinase 18	CDK18	5129	ENSG00000117266			Cdk18 (MGI:97518)
chr1	205569014	205602918	1q32.1	1q32.1	620299	MFSD4A	Major facilitator superfamily domain-containing protein 4A	MFSD4A	148808	ENSG00000174514			Mfsd4a (MGI:2442786)
chr1	205607943	205632011	1q32	1q32.1	600246	ELK4, SAP1	ELK4, ETS-domain protein (SRF accessory protein 1)	ELK4	2005	ENSG00000158711			Elk4 (MGI:102853)
chr1	205657851	205680509	1q32.1	1q32.1	605097	SLC45A3, PRST, PCANAP6, IPCA6	Solute carrier family 45, member 3 (prostein)	SLC45A3	85414	ENSG00000158715			Slc45a3 (MGI:1922082)
chr1	205712822	205750182	1q32.1	1q32.1	611912	NUCKS1, NUCKS	Nuclear casein kinase and cyclin-dependent kinase substrate 1	NUCKS1	64710	ENSG00000069275			Nucks1 (MGI:1934811)
chr1	205767986	205775482	1q32	1q32.1	603949	RAB7L1	RAB7-like 1	RAB29	8934	ENSG00000117280			Rab29 (MGI:2385107)
chr1	205789095	205813198	1q31-q32	1q32.1	610801	SLC41A1, NPHPL2	Solute carrier family 41, member 1	SLC41A1	254428	ENSG00000133065	mutation identified in 1 NPHPL2 family	?Nephronophthisis-like nephropathy 2, 619468 (3), Autosomal recessive	Slc41a1 (MGI:2444823)
chr1	205828025	205850132	1q32.1	1q32.1	617124	PM20D1	Peptidase M20 domain-containing protein 1	PM20D1	148811	ENSG00000162877			Pm20d1 (MGI:2442939)
chr1	205913052	205943456	1q32.1	1q32.1	608481	SLC26A9	Solute carrier family 26 (sulfate transporter), member 9	SLC26A9	115019	ENSG00000174502			Slc26a9 (MGI:2444594)
chr1	206009264	206023895	1q31	1q32.1	116890	CTSE	Cathepsin E	CTSE	1510	ENSG00000196188	closely linked to REN		Ctse (MGI:107361)
chr1	206053173	206102449	1q32.1	1q32.1	616088	RHEX, C1orf186, RHEX	Regulator of hemoglobinization and erythroid cell expansion	RHEX	440712	ENSG00000263961			
chr1	206106936	206117388	1q32	1q32.1	600264	AVPR1B, AVPR3	Arginine vasopressin receptor-1B	AVPR1B	553	ENSG00000198049			Avpr1b (MGI:1347010)
chr1	206186179	206205773	1q32	1q32.1	614710	FAM72A, LMPIP, UGENE	Family with sequence similarity 72, member A	FAM72A	729533	ENSG00000196550			Fam72a (MGI:1919669)
chr1	206203541	206464436	1q32.1	1q32.1	606524	SRGAP2, KIAA0456	Slit-robo GTPase-activating protein, rho, 2	SRGAP2	23380	ENSG00000266028			Srgap2 (MGI:109605)
chr1	206470476	206496889	1q32.1	1q32.1	605048	IKBKE	Inhibitor of nuclear factor kappa-B kinase, subunit epsilon	IKBKE	9641	ENSG00000263528			Ikbke (MGI:1929612)
chr1	206507531	206589448	1q32.1	1q32.1	607020	RASSF5, NORE1	Ras association (RalGDS/AF-6) domain family 5 (Nore1, mouse, homolog of)	RASSF5	83593	ENSG00000266094			Rassf5 (MGI:1926375)
chr1	206569146	206612465	1q32.1	1q32.1	613709	EIF2D, HCA56	Eukaryotic translation initiation factor 2D	EIF2D	1939	ENSG00000143486			Eif2d (MGI:109342)
chr1	206635536	206655158	1q32.2	1q32.1	603497	DYRK3	Dual-specificity tyrosine phosphorylation-regulated kinase 3	DYRK3	8444	ENSG00000143479			Dyrk3 (MGI:1330300)
chr1	206684905	206734281	1q32.1	1q32.1	602006	MAPKAPK2, MK2	Mitogen-activated protein kinase-activated protein kinase 2	MAPKAPK2	9261	ENSG00000162889			Mapkapk2 (MGI:109298)
chr1	206767602	206772494	1q31-q32	1q32.1	124092	IL10, CSIF, GVHDS	Interleukin-10	IL10	3586	ENSG00000136634		{Rheumatoid arthritis, progression of}, 180300 (3); {Graft-versus-host disease, protection against}, 614395 (3); {HIV-1, susceptibility to}, 609423 (3)	Il10 (MGI:96537)
chr1	206770773	206842981	1q32	1q32.1	605687	IL19	Interleukin 19	IL19	29949	ENSG00000142224			Il19 (MGI:1890472)
chr1	206863565	206869223	1q32	1q32.1	605619	IL20	Interleukin 20	IL20	50604	ENSG00000162891			Il20 (MGI:1890473)
chr1	206897443	206904139	1q32	1q32.1	604136	IL24, ST16, MDA7	Interleukin 24 (suppression of tumorigenicity 16)	IL24	11009	ENSG00000162892			Il24 (MGI:2135548)
chr1	206903317	206923196	1q32.2	1q32.1	606015	FAIM3, TOSO, FCMR	Fas apoptotic inhibitory molecule 3	FCMR	9214	ENSG00000162894			Fcmr (MGI:1916419)
chr1	206928522	206946466	1q31-q42	1q32.1	173880	PIGR	Polymeric immunoglobulin receptor	PIGR	5284	ENSG00000162896			Pigr (MGI:103080)
chr1	206957967	206970638	1q32.3	1q32.1	605484	FCAMR	Fc fragment of IgA and IgM, receptor for	FCAMR	83953	ENSG00000162897			Fcamr (MGI:1927803)
chr1	207018522	207032756	1q32.2	1q32.1	611680	SARG, C1orf116	Specifically androgen-regulated gene	C1orf116	79098	ENSG00000182795			AA986860 (MGI:2138143)
chr1	207034416	207081027	1q31	1q32.1	171835	PFKFB2	Fructose-2,6-bisphosphatase, cardiac isozyme	PFKFB2	5208	ENSG00000123836			Pfkfb2 (MGI:107815)
chr1	207043849	207053116	1q32.1	1q32.1	612023	YOD1, OTUD2, DUBA8	YOD1 deubiquitinase	YOD1	55432	ENSG00000180667			Yod1 (MGI:2442596)
chr1	207088860	207099993	1q32	1q32.1	120831	C4BPB	Complement component 4-binding protein, beta polypeptide	C4BPB	725	ENSG00000123843			
chr1	207104233	207144972	1q32	1q32.2	120830	C4BPA	Complement component 4-binding protein, alpha polypeptide	C4BPA	722	ENSG00000123838	same RE fragment as C4BPB		C4bp,Zp3r (MGI:104965,MGI:88229)
chr1	207321678	207360966	1q32	1q32.2	125240	CD55, DAF, CROM, CHAPLE	CD55 antigen (blood group Cromer)	CD55	1604	ENSG00000196352		[Blood group Cromer], 613793 (3), Autosomal recessive; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive	Cd55,Cd55b (MGI:104849,MGI:104850)
chr1	207454328	207489892	1q32	1q32.2	120650	CR2, C3DR, SLEB9, CVID7	Complement component (3d/Epstein-Barr virus) receptor-2	CR2	1380	ENSG00000117322	mutation identified in CVID7 patient	{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3); ?Immunodeficiency, common variable, 7, 614699 (3), Autosomal recessive	Cr2 (MGI:88489)
chr1	207496157	207641765	1q32	1q32.2	120620	CR1, C3BR	Complement component (3b/4b) receptor-1	CR1	1378	ENSG00000203710		[Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3)	Cr1l (MGI:88513)
chr1	207645133	207723703	1q32	1q32.2	605886	CR1L	Complement component receptor 1-like	CR1L	1379	ENSG00000197721			Cr1l (MGI:88513)
chr1	207752038	207795516	1q32	1q32.2	120920	MCP, CD46, AHUS2	Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)	CD46	4179	ENSG00000117335		{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3), Autosomal recessive, Autosomal dominant	Cd46 (MGI:1203290)
chr1	207801852	207801939	1q32.2	1q32.2	610784	MIR29C, MIRN29C	Micro RNA 29C	MIR29C	407026	ENSG00000284214			Mir29c (MGI:2676906)
chr1	207802443	207802523	1q32	1q32.2	619035	MIR29B2	Micro RNA 29B2	MIR29B2	407025	ENSG00000284203			Mir29b-2 (MGI:3619047)
chr1	207880972	207911125	1q32	1q32.2	142230	CD34	CD34 antigen	CD34	947	ENSG00000174059			Cd34 (MGI:88329)
chr1	208022242	208244384	1q32.2	1q32.2	601054	PLXNA2, OCT, PLXN2	Plexin A2 (OCT transmembrane protein)	PLXNA2	5362	ENSG00000076356			Plxna2 (MGI:107684)
chr1	209432133	209432242	1q32.2	1q32.2	613147	MIR205, MIRN205	Micro RNA 205	MIR205	406988	ENSG00000284485			Mir205 (MGI:2676880)
chr1	209583714	209613939	1q32-q41	1q32.2	614994	CAMK1G, CLICK3	Calcium/calmodulin-dependent protein kinase IG	CAMK1G	57172	ENSG00000008118			Camk1g (MGI:2388073)
chr1	209614870	209652425	1q32	1q32.2	150310	LAMB3, AI1A, JEB1B, JEB1A	Laminin, beta-3 (nicein, 125kD; kalinin, 140kD; BM600, 125kD)	LAMB3	3914	ENSG00000196878		Epidermolysis bullosa, junctional 1B, severe, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional 1A, intermediate, 226650 (3), Autosomal recessive; Amelogenesis imperfecta, type IA, 104530 (3), Autosomal dominant	Lamb3 (MGI:99915)
chr1	209675412	209676390	1q32-q41	1q32.2	614447	G0S2	G0/G1 switch gene 2	G0S2	50486	ENSG00000123689			G0s2 (MGI:1316737)
chr1	209686179	209734929	1q32-q41	1q32.2	600713	HSD11B1, HSD11, HSD11L, CORTRD2	Hydroxysteroid, 11-beta, dehydrogenase 1	HSD11B1	3290	ENSG00000117594	digenic triallelic mutations with H6PD	Cortisone reductase deficiency 2, 614662 (3), Autosomal dominant	Hsd11b1 (MGI:103562)
chr1	209756053	209782310	1q32.3-q41	1q32.2	608255	TRAF3IP3, T3JAM	TRAF3-interacting protein 3	TRAF3IP3	80342	ENSG00000009790			Traf3ip3 (MGI:2441706)
chr1	209785617	209806142	1q32-q41	1q32.2	607199	IRF6, VWS1, LPS, PIT, PPS1, OFC6	Interferon regulatory factor 6	IRF6	3664	ENSG00000117595	OFC6 in enhancer 5' of IRF6	{Orofacial cleft 6}, 608864 (3), Autosomal dominant; Popliteal pterygium syndrome 1, 119500 (3), Autosomal dominant; van der Woude syndrome 1, 119300 (3), Autosomal dominant	Irf6 (MGI:1859211)
chr1	209827972	209857565	1q32.2	1q32.2	619663	UTP25	UTP25 small subunit processor component	UTP25	27042	ENSG00000117597			Utp25 (MGI:2138080)
chr1	209938217	210171389	1q32.2	1q32.2	610949	SYT14, SCAR11	Synaptotagmin 14	SYT14	255928	ENSG00000143469	mutation identified in 1 SCAR11 family	?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3), Autosomal recessive	Syt14 (MGI:2444490)
chr1	210327328	210676290	1q32	1q32.2	605743	HHAT, MART2, SKI1, NNMS	Hedgehog acyltransferase	HHAT	55733	ENSG00000054392		Nivelon-Nivelon-Mabille syndrome, 600092 (3), Autosomal recessive	Hhat (MGI:2444681)
chr1	210678314	211134148	1q32-q41	1q32.2	603305	KCNH1, EAG, TMBTS, ZLS1	Potassium voltage-gated channel, subfamily H, member 1 (ether-a-go-go, drosophila, homolog of)	KCNH1	3756	ENSG00000143473		Zimmermann-Laband syndrome 1, 135500 (3), Autosomal dominant; Temple-Baraitser syndrome, 611816 (3), Autosomal dominant	Kcnh1 (MGI:1341721)
chr1	211259366	211316385	1q32.2-q32.3	1q32.2-q32.3	620464	RCOR3	REST corepressor 3	RCOR3	55758	ENSG00000117625			Rcor3 (MGI:2441920)
chr1	211326635	211374946	1q32	1q32.3	602356	TRAF5	TNF receptor-associated factor 5	TRAF5	7188	ENSG00000082512			Traf5 (MGI:107548)
chr1	211382755	211432535	1q32.3	1q32.3	620079	LINC00467, ASAP	Long intergenic noncoding RNA 467	LINC00467	84791	ENSG00000153363			
chr1	211476522	211492162	1q32.3	1q32.3	180040	RD3, LCA12, C1orf36	RD3 regulator of GUCY2D	RD3	343035	ENSG00000198570		Leber congenital amaurosis 12, 610612 (3), Autosomal recessive	Rd3 (MGI:1921273)
chr1	211571568	211579161	1q32.3	1q32.3	609521	SLC30A1, ZNT1	Solute carrier family 30 (zinc transporter), member 1	SLC30A1	7779	ENSG00000170385			Slc30a1 (MGI:1345281)
chr1	211658256	211675621	1q32.2-q41	1q32.3	604043	NEK2, RP67	NIMA-related kinase 2	NEK2	4751	ENSG00000117650	pseudogenes on chr. 2, 14, and 22; mutation identified in 1 family	?Retinitis pigmentosa 67, 615565 (3), Autosomal recessive	Nek2 (MGI:109359)
chr1	211743457	211830763	1q32.3	1q32.3	610473	LPGAT1	Lysophosphatidylglycerol acyltransferase 1	LPGAT1	9926	ENSG00000123684			Lpgat1 (MGI:2446186)
chr1	211940403	212035557	1q32.3	1q32.3	611350	INTS7, INT7	Integrator complex subunit 7	INTS7	25896	ENSG00000143493			Ints7 (MGI:1924315)
chr1	212035748	212105013	1q32.1-q32.2	1q32.3	610617	DTL, RAMP, DCAF2, CDT2	Denticleless E3 ubiquitin protein ligase homolog	DTL	51514	ENSG00000143476			Dtl (MGI:1924093)
chr1	212285410	212361853	1q41	1q32.3	601643	PPP2R5A	Protein phosphatase-2, regulatory subunit B (B56), alpha isoform	PPP2R5A	5525	ENSG00000066027			Ppp2r5a (MGI:2388479)
chr1	212363928	212414886	1q32.3	1q32.3	618427	PACC1, TMEM206	Proton-activated chloride channel 1	PACC1	55248	ENSG00000065600			Pacc1 (MGI:1914200)
chr1	212432920	212446379	1q32.3	1q32.3	611874	NENF, CIR2	Neuron-derived neurotrophic factor	NENF	29937	ENSG00000117691			Nenf (MGI:1913458)
chr1	212565407	212620777	1q32.3	1q32.3	603148	ATF3	Activating transcription factor 3	ATF3	467	ENSG00000162772			Atf3 (MGI:109384)
chr1	212624474	212626775	1q32.3	1q32.3	619852	GARIN4, GARIL4	Golgi-associated RAB2 interactor family, member 4	GARIN4	149647	ENSG00000162771			Garin4 (MGI:3588202)
chr1	212686417	212699840	1p32.3	1q32.3	612470	BATF3	Basic leucine zipper transcription factor, ATF-like, 3	BATF3	55509	ENSG00000123685			Batf3 (MGI:1925491)
chr1	212726153	212791777	1q41	1q32.3	609174	NSL1, DC8, C1orf48	NSL1, MIS12 kinetochore complex component	NSL1	25936	ENSG00000117697			Nsl1 (MGI:2685830)
chr1	212856604	212858138	1q31	1q32.3	610864	FLVCR1-DT, LQK1	FLVCR1 divergent transcript	FLVCR1-DT	642946	ENSG00000198468			
chr1	212858275	212899363	1q31.3	1q32.3	609144	FLVCR1, AXPC1, PCARP, NEDMISH, RETSNS	FLVCR heme transporter 1	FLVCR1	28982	ENSG00000162769		Retinopathy-sensory neuropathy syndrome, 609033 (3), Autosomal recessive; Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, 621060 (3), Autosomal recessive	Flvcr1 (MGI:2444881)
chr1	212950541	212991585	1q32.3	1q32.3	610471	VASH2	Vasohibin 2	VASH2	79805	ENSG00000143494			Vash2 (MGI:2444826)
chr1	212992182	213015867	1q32.3	1q32.3	619001	ANGEL2, CCR4D	Angel homolog 2	ANGEL2	90806	ENSG00000174606			Angel2 (MGI:1196310)
chr1	213051241	213862735	1q32.3	1q32.3	617517	RPS6KC1, RPK118	Ribosomal protein S6 kinase C1	RPS6KC1	26750	ENSG00000136643			Rps6kc1 (MGI:2443419)
chr1	213924749	213926654	1q41	1q32.3	614635	LINC00538, YIYA	Long intergenic noncoding RNA 538	LINC00538	100861504				
chr1	213983151	214041510	1q32.2-q32.3	1q32.3	601546	PROX1	Prospero homeobox 1	PROX1	5629	ENSG00000117707			Prox1 (MGI:97772)
chr1	214281159	214337131	1q41	1q32.3	610663	SMYD2	SET and MYND domain-containing protein 2	SMYD2	56950	ENSG00000143499			Smyd2 (MGI:1915889)
chr1	214348700	214551602	1q32	1q32.3-q41	603155	PTPN14, PEZ, CATLPH	Protein tyrosine phosphatase, nonreceptor-type, 14	PTPN14	5784	ENSG00000152104		Choanal atresia and lymphedema, 613611 (3), Autosomal recessive	Ptpn14 (MGI:102467)
chr1	214400001	236400000	1q41-q42		610836	AUTS11	Autism, susceptibility to, 11		100188820		associated with rs12740310, rs3737296, and rs12310279	{Autism susceptibility 11}, 610836 (2)	
chr1	214400001	236400000	1q41-q42		612530	DEL1q41q42, C1DELq41q42	Chromosome 1q41-q42 deletion syndrome				contiguous gene deletion of 1.7Mb	Chromosome 1q41-q42 deletion syndrome, 612530 (4), Isolated cases	
chr1	214400001	248956422	1q41-q44		615589	OTSC10	Otosclerosis 10		102723100			Otosclerosis 10, 615589 (2), Autosomal dominant	
chr1	214400001	223900000	1q41		600332	RMD1	Rippling muscle disease 1		6022			Rippling muscle disease-1, 600332 (2), Autosomal dominant	
chr1	214603195	214664571	1q32-q41	1q41	600236	CENPF, CILD31, STROMS	Centromere autoantigen F, 400kD	CENPF	1063	ENSG00000117724		Stromme syndrome, 243605 (3), Autosomal recessive	Cenpf (MGI:1313302)
chr1	215005542	215237090	1q41	1q41	603219	KCNK2, TREK	Potassium channel, subfamily K, member 2	KCNK2	3776	ENSG00000082482			Kcnk2 (MGI:109366)
chr1	215567304	215621807	1q41	1q41	613272	KCTD3	Potassium channel tetramerization domain-containing protein 3	KCTD3	51133	ENSG00000136636			Kctd3 (MGI:2444629)
chr1	215622891	216423448	1q41	1q41	608400	USH2A, RP39	Usherin	USH2A	7399	ENSG00000042781		Usher syndrome, type 2A, 276901 (3), Autosomal recessive; Retinitis pigmentosa 39, 613809 (3), Autosomal recessive	Ush2a (MGI:1341292)
chr1	216503246	217137702	1q41	1q41	602969	ESRRG	Estrogen-related receptor, gamma	ESRRG	2104	ENSG00000196482			Esrrg (MGI:1347056)
chr1	217426992	217631090	1q41	1q41	616836	GPATCH2, GPATC2	G-patch domain-containing protein 2	GPATCH2	55105	ENSG00000092978			Gpatch2 (MGI:1915019)
chr1	217631344	217871696	1q41	1q41	611032	SPATA17, MSRG11	Spermatogenesis-associated protein 17	SPATA17	128153	ENSG00000162814			Spata17 (MGI:1921967)
chr1	218285293	218337983	1q41	1q41	611193	RRP15	Ribosomal RNA-processing 15 homolog	RRP15	51018	ENSG00000067533			Rrp15 (MGI:1914473)
chr1	218345336	218444619	1q41	1q41	190220	TGFB2, LDS4	Transforming growth factor, beta-2	TGFB2	7042	ENSG00000092969		Loeys-Dietz syndrome 4, 614816 (3), Autosomal dominant	Tgfb2 (MGI:98726)
chr1	219173878	219445496	1q41	1q41	616548	LYPLAL1	Lysophospholipase-like 1	LYPLAL1	127018	ENSG00000143353			Lyplal1 (MGI:2385115)
chr1	219910445	219959098	1q41	1q41	611146	SLC30A10, ZNT10, HMNDYT1	Solute carrier family 30 (zinc transporter), member 10	SLC30A10	55532	ENSG00000196660		Hypermanganesemia with dystonia 1, 613280 (3), Autosomal recessive	Slc30a10 (MGI:2685058)
chr1	219968600	220046505	1q41-q42	1q41	138295	EPRS, PARS, HLD15	Glutamyl-prolyl-tRNA synthetase	EPRS1	2058	ENSG00000136628		Leukodystrophy, hypomyelinating, 15, 617951 (3), Autosomal recessive	Eprs1 (MGI:97838)
chr1	220057482	220089788	1q41	1q41	604053	BPNT1	3'(2'),5'-bisphosphate nucleotidase 1	BPNT1	10380	ENSG00000162813			Bpnt1 (MGI:1338800)
chr1	220094132	220148041	1q41	1q41	612801	IARS2, CAGSSS	Isoleucyl-tRNA synthetase 2	IARS2	55699	ENSG00000067704		Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3), Autosomal recessive	Iars2 (MGI:1919586)
chr1	220117853	220117962	1q41	1q41	610943	MIR215, MIRN215	Micro RNA 215	MIR215	406997	ENSG00000207590			Mir215 (MGI:2676891)
chr1	220118157	220118241	1q41	1q41	610940	MIR194-1, MIRN194-1	Micro RNA 194-1	MIR194-1	406969	ENSG00000207624			Mir194-1 (MGI:2676858)
chr1	220148293	220272453	1q41	1q41	609275	RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2, MARTS1	RAB3 GTPase-activating protein (noncatalytic) subunit 2	RAB3GAP2	25782	ENSG00000118873		Martsolf syndrome 1, 212720 (3), Autosomal recessive; Warburg micro syndrome 2, 614225 (3), Autosomal recessive	Rab3gap2 (MGI:1916043)
chr1	220528136	220664461	1q41	1q41	606511	MARK1, KIAA1477	MAP/microtubule affinity-regulating kinase 1	MARK1	4139	ENSG00000116141			Mark1 (MGI:2664902)
chr1	220748322	220784815	1q41	1q41	614127	MTARC2, MOSC2, MARC2	Mitochondrial amidoxime-reducing component 2	MTARC2	54996	ENSG00000117791			Mtarc2 (MGI:1914497)
chr1	220786913	220819659	1q41	1q41	614126	MTARC1, MOSC1, MARC1	Mitochondrial amidoxime-reducing component 1	MTARC1	64757	ENSG00000186205			Mtarc1 (MGI:1913362)
chr1	220879443	220885059	1q41-q42.1	1q41	142995	HLX1	H.20-like homeobox	HLX	3142	ENSG00000136630			Hlx (MGI:96109)
chr1	221701424	221742089	1q41	1q41	608867	DUSP10, MKP5	Dual-specificity phosphatase 10	DUSP10	11221	ENSG00000143507			Dusp10 (MGI:1927070)
chr1	222522264	222548104	1q41	1q41	620214	HHIPL2, KIAA1822L	HHIP-like 2	HHIPL2	79802	ENSG00000143512			Hhipl2 (MGI:1926022)
chr1	222554105	222589933	1q42	1q41	604903	TAF1A, RAFI48, SL1	TATA box-binding protein-associated factor 1A	TAF1A	9015	ENSG00000143498			Taf1a (MGI:109578)
chr1	222618097	222668007	1q42	1q41	613455	MIA3, TANGO1, TANGO, KIAA0268, ODCD2	MIA SH3 domain ER export factor 3	MIA3	375056	ENSG00000154305	mutation identified in 1 ODCD2 family	?Ondontochondrodysplasia 2 with hearing loss and diabetes, 619269 (3), Autosomal recessive	Mia3 (MGI:2443183)
chr1	222668013	222712491	1q41	1q41	612375	AIDA	Axin interactor, dorsalization-associated	AIDA	64853	ENSG00000186063			Aida (MGI:1919737)
chr1	222815039	223005995	1q42	1q41	607502	DISP1, DISPA	Dispatched RND transporter family, member 1	DISP1	84976	ENSG00000154309			Disp1 (MGI:1916147)
chr1	223109404	223143248	1q41	1q41	603031	TLR5, TIL3, SLEB1, MELIOS	Toll-like receptor-5	TLR5	7100	ENSG00000187554		{Melioidosis, susceptibility to}, 615557 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Legionnaire disease, susceptibility to}, 608556 (3)	Tlr5 (MGI:1858171)
chr1	223220831	223365235	1q41	1q41	615827	SUSD4	Sushi domain-containing protein 4	SUSD4	55061	ENSG00000143502			Susd4 (MGI:2138351)
chr1	223541616	223665701	1q41	1q41	618777	CAPN8	Calpain 8	CAPN8	388743	ENSG00000203697			Capn8 (MGI:2181366)
chr1	223701597	223776018	1q41-q42	1q41	114230	CAPN2	Calpain, large polypeptide L2	CAPN2	824	ENSG00000162909			Capn2 (MGI:88264)
chr1	223779893	223845947	1q42.1	1q41	602143	TP53BP2, ASPP2	Tumor protein p53-binding protein-2	TP53BP2	7159	ENSG00000143514			Trp53bp2 (MGI:2138319)
chr1	223900001	236400000	1q42		613058	BCC2	Basal cell carcinoma, susceptibility to, 2		100307119		associated with rs801114	{Basal cell carcinoma, susceptibility to, 2}, 613058 (2)	
chr1	223900001	236400000	1q42		606554	EA3	Episodic ataxia, type 3		780905		max lod at D1S235	Episodic ataxia, type 3, 606554 (2), Autosomal dominant	
chr1	223900001	236400000	1q42		143025	HRES1	HTLV-1 related endogenous sequence	HRES1	3272				
chr1	223900001	236400000	1q42		604801	MDC1B	Muscular dystrophy, congenital, 1B		53368			Muscular dystrophy, congenital, 1B, 604801 (2), Autosomal recessive	
chr1	223900001	236400000	1q42		170000	PEPC	Peptidase C	PEPC	5183		1q25, 1q32 = conflicting localizations		
chr1	223900001	230500000	1q42.11-q42.13		180420	RN5S1@	RNA, 5S cluster 1				25-30% at 1q31 (RN5S3@)		
chr1	224114111	224162047	1q42.12	1q42.11	609100	FBXO28, FBX28, KIAA0483, DEE100	F-box protein 28	FBXO28	23219	ENSG00000143756		Developmental and epileptic encephalopathy 100, 619777 (3), Autosomal dominant	Fbxo28 (MGI:1261890)
chr1	224183240	224193441	1q42.11	1q42.11	615843	DEGS1, DES1, MLD, HLD18	Delta(4)-desaturase, sphingolipid, 1	DEGS1	8560	ENSG00000143753		Leukodystrophy, hypomyelinating, 18, 618404 (3), Autosomal recessive	Degs1,Degs1l (MGI:1097711,MGI:3588271)
chr1	224227345	224330172	1q41-q42.2	1q42.11	602426	NVL	Nuclear valosin-containing protein-like	NVL	4931	ENSG00000143748			Nvl (MGI:1914709)
chr1	224356803	224379452	1q42.11	1q42.11	617483	CNIH4, CNIH2	Cornichon family AMPA receptor auxiliary protein 4	CNIH4	29097	ENSG00000143771			Cnih4 (MGI:1925828)
chr1	224385146	224434797	1q42.13	1q42.11-q42.12	617424	WDR26, SKDEAS	WD repeat-containing protein 26	WDR26	80232	ENSG00000162923		Skraban-Deardorff syndrome, 617616 (3), Autosomal dominant	Wdr26 (MGI:1923825)
chr1	224929654	225399286	1q42	1q42.12	603341	DNAH14, HL18	Dynein, axonemal, heavy chain 14	DNAH14	127602	ENSG00000185842			Dnah14 (MGI:2444525)
chr1	225401502	225428821	1q42.1	1q42.12	600024	LBR, PHA, PHASK	Lamin B receptor	LBR	3930	ENSG00000143815		Pelger-Huet anomaly, 169400 (3), Autosomal dominant; ?Reynolds syndrome, 613471 (3), Autosomal dominant; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, 618019 (3), Autosomal recessive; Greenberg skeletal dysplasia, 215140 (3), Autosomal recessive	Lbr (MGI:2138281)
chr1	225486829	225653878	1q42.13	1q42.12	609061	ENAH, ENA, MENA, NDPP1	ENAH actin regulator	ENAH	55740	ENSG00000154380			Enah (MGI:108360)
chr1	225777826	225790464	1q42.12	1q42.12	600707	SRP9, ALURBP	Signal recognition particle, 9kD	SRP9	6726	ENSG00000143742			Srp9 (MGI:1350930)
chr1	225810124	225845563	1q42.1	1q42.12	132810	EPHX1	Epoxide hydroxylase 1, microsomal xenobiotic	EPHX1	2052	ENSG00000143819			Ephx1 (MGI:95405)
chr1	225840556	225882380	1q42.12	1q42.12	618685	TMEM63A, KIAA0792, HLD19	Transmembrane protein 63A	TMEM63A	9725	ENSG00000196187		Leukodystrophy, hypomyelinating, 19, transient infantile, 618688 (3), Autosomal dominant	Tmem63a (MGI:2384789)
chr1	225886282	225889146	1q42.1	1q42.12	603037	LEFTB, LEFTY1	Left-right determination, factor B	LEFTY1	10637	ENSG00000243709			Lefty1 (MGI:107405)
chr1	225919878	225924250	1q42.13	1q42.12	616406	PYCR2, HLD10	Pyrroline-5-carboxylate reductase 2	PYCR2	29920	ENSG00000143811		Leukodystrophy, hypomyelinating, 10, 616420 (3), Autosomal recessive	Pycr2 (MGI:1277956)
chr1	225936603	225941220	1q42.1	1q42.12	601877	LEFTY2, EBAF, TGFB4, LEFTA, LEFTYA	Left-right determination factor 2	LEFTY2	7044	ENSG00000143768			Lefty2 (MGI:2443573)
chr1	225982702	225999343	1q42.12	1q42.12	620743	SDE2	SDE2 telomere maintenance homolog	SDE2	163859	ENSG00000143751			Sde2 (MGI:2384788)
chr1	226061831	226072019	1q41	1q42.12	601128	H3-3A, H3F3A, H3F3, BRYLIB1	H3.3 histone A	H3-3A	3020	ENSG00000163041		Bryant-Li-Bhoj neurodevelopmental syndrome 1, 619720 (3), Autosomal dominant	H3f3a,H3f3b (MGI:1097686,MGI:1101768)
chr1	226144679	226186741	1q42.1	1q42.12	606809	ACBD3, GOCAP1, GOLPH1, GCP60	Acyl-Coenzyme A binding domain containing 3	ACBD3	64746	ENSG00000182827			Acbd3 (MGI:2181074)
chr1	226223664	226227060	1q42.1	1q42.12	609852	MIXL1, MIXL, MIX	MIX1 homeobox-like protein 1	MIXL1	83881	ENSG00000185155			Mixl1 (MGI:1351322)
chr1	226231149	226309767	1q42.12	1q42.12	609375	LIN9	lin-9 DREAM MuvB core complex component	LIN9	286826	ENSG00000183814			Lin9 (MGI:1919818)
chr1	226360691	226408093	1q42	1q42.12	173870	PARP1, ADPRT, PPOL, PARP	Poly(ADP-ribose) polymerase 1	PARP1	142	ENSG00000143799	?processed pseudogenes on chr.13 and 14		Parp1 (MGI:1340806)
chr1	226631690	226739282	1q41-q43	1q42.12	147522	ITPKB	Inositol 1,4,5-trisphosphate 3-kinase B	ITPKB	3707	ENSG00000143772			Itpkb (MGI:109235)
chr1	226870616	226903668	1q31-q42	1q42.13	600759	PSEN2, AD4, STM2, CMD1V	Presenilin 2	PSEN2	5664	ENSG00000143801		Alzheimer disease-4, 606889 (3), Autosomal dominant; Cardiomyopathy, dilated, 1V, 613697 (3), Autosomal dominant	Psen2 (MGI:109284)
chr1	226940294	226987544	1q42.2	1q42.13	606980	COQ8, ADCK3, CABC1, SCAR9, ARCA2, COQ10D4	Coenzyme Q8A	COQ8A	56997	ENSG00000163050		Coenzyme Q10 deficiency, primary, 4, 612016 (3), Autosomal recessive	Coq8a (MGI:1914676)
chr1	226989858	227318492	1q41-q42	1q42.13	603412	CDC42BPA, PK428, MRCKA	CDC42-binding protein kinase alpha	CDC42BPA	8476	ENSG00000143776			Cdc42bpa (MGI:2441841)
chr1	227728168	227781226	1q42.13	1q42.13	619659	SNAP47	Synaptosome-associated protein 47	SNAP47	116841	ENSG00000143740			Snap47 (MGI:1915076)
chr1	227731191	227735302	1q42.13	1q42.13	620928	JMJD4	Jumonji domain-containing protein 4	JMJD4	65094	ENSG00000081692			Jmjd4 (MGI:2144404)
chr1	227918656	227947932	1q42	1q42.13	602863	WNT14	Wingless-type MMTV integration site family, member 14	WNT9A	7483	ENSG00000143816			Wnt9a (MGI:2446084)
chr1	228006998	228061271	1q42	1q42.13	606359	WNT3A	Wingless-type MMTV integration site family, member 3A	WNT3A	89780	ENSG00000154342			Wnt3a (MGI:98956)
chr1	228082708	228099212	1q42	1q42.13	103180	ARF1, PVNH8	ADP-ribosylation factor-1	ARF1	375	ENSG00000143761		Periventricular nodular heterotopia 8, 618185 (3), Autosomal dominant	Arf1 (MGI:99431)
chr1	228106685	228109299	1q42.13	1q42.13	611859	MRPL55	Mitochondrial ribosomal protein L55	MRPL55	128308	ENSG00000162910			Mrpl55 (MGI:1914462)
chr1	228140084	228148955	1q32.1-q42	1q42.13	139270	GUK1, MTDPS21	Guanylate kinase-1	GUK1	2987	ENSG00000143774		Mitochondrial DNA depletion syndrome 21, 621071 (3), Autosomal recessive	Guk1 (MGI:95871)
chr1	228149930	228159826	1q42.13	1q42.13	608803	GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPHM3	Gap junction protein, gamma-2 (47kD)	GJC2	57165	ENSG00000198835	mutation identified in 1 SPG44 family	Lymphatic malformation 3, 613480 (3), Autosomal dominant; ?Spastic paraplegia 44, autosomal recessive, 613206 (3), Autosomal recessive; Leukodystrophy, hypomyelinating, 2, 608804 (3), Autosomal recessive	Gjc2 (MGI:2153060)
chr1	228165804	228182257	1q42.13	1q42.13	615316	IBA57, C1orf69, MMDS3, SPG74	Iron-sulfur cluster assembly factor IBA57	IBA57	200205	ENSG00000181873		Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive; ?Spastic paraplegia 74, autosomal recessive, 616451 (3), Autosomal recessive	Iba57 (MGI:3041174)
chr1	228208044	228378876	1q42.13	1q42.13	608616	OBSCN, KIAA1556, KIAA1639, RHABDO1	Obscurin	OBSCN	84033	ENSG00000154358		{Rhabdomyolysis, susceptibility to, 1}, 620235 (3), Autosomal recessive	Obscn (MGI:2681862)
chr1	228393676	228406835	1q42.13	1q42.13	607868	TRIM11	Tripartite motif-containing protein 11	TRIM11	81559	ENSG00000154370			Trim11 (MGI:2137355)
chr1	228407935	228416861	1q42	1q42.13	606123	RNF16	RING finger protein-16	TRIM17	51127	ENSG00000162931			Trim17 (MGI:1861440)
chr1	228424845	228425360	1q42	1q42.13	602820	H3-4, HIST3H3, H3FT, H3T	H3.4 histone	H3-4	8290	ENSG00000168148			
chr1	228457364	228457873	1q42	1q42.13	615015	H2AW, HIST3H2A	H2A.W histone	H2AC25	92815	ENSG00000181218			H2ac25 (MGI:2448458)
chr1	228458103	228458558	1q42	1q42.13	615046	H2BU1, HIST3H2BB, H2Bb	H2B.U histone 1	H2BC26	128312	ENSG00000196890			H2bc26 (MGI:1922442)
chr1	228487382	228496188	1q42.13	1q42.13	613754	RNF186, RACO1	RING finger protein 187	RNF187	149603	ENSG00000168159			Rnf187 (MGI:1914224)
chr1	228644647	228746669	1q42	1q42.13	606366	RHOU, WRCH1	Ras homolog gene family, member U	RHOU	58480	ENSG00000116574			Rhou (MGI:1916831)
chr1	229271111	229305894	1q42-q43	1q42.13	179511	RAB4A, RAB4	Ras-associated protein RAB4A	RAB4A	5867	ENSG00000168118			Rab4a (MGI:105069)
chr1	229321015	229343047	1q42.13	1q42.13	616762	CCSAP, CSAP, C1orf96	Centriole-, cilia-, and spindle-associated protein	CCSAP	126731	ENSG00000154429			Ccsap (MGI:1920670)
chr1	229431245	229434094	1q42.1	1q42.13	102610	ACTA1, ASMA, NEM3, CMYO2A, CMYO2B, SHPM, CMYO2C	Actin, alpha-1, skeletal muscle	ACTA1	58	ENSG00000143632	mutation identified in 1 SHPM family	Congenital myopathy 2B, severe infantile, autosomal recessive, 620265 (3), Autosomal recessive; ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant; Congenital myopathy 2C, severe infantile, autosomal dominant, 620278 (3), Autosomal dominant; Congenital myopathy 2A, typical, autosomal dominant, 161800 (3), Autosomal dominant	Acta1 (MGI:87902)
chr1	229440259	229508341	1q42.13	1q42.13	607613	NUP133, NPHS18, GAMOS8	Nucleoporin, 133kD	NUP133	55746	ENSG00000069248	mutation identified in 1 GAMOS8 family	?Galloway-Mowat syndrome 8, 618349 (3), Autosomal recessive; Nephrotic syndrome, type 18, 618177 (3), Autosomal recessive	Nup133 (MGI:2442620)
chr1	229516582	229558707	1q42	1q42.13	605454	ABCB10, MTABC2	ATP-binding cassette, subfamily B, member 10	ABCB10	23456	ENSG00000135776	pseudogene on 15q13-q14		Abcb10 (MGI:1860508)
chr1	229626247	229660200	1q42.13	1q42.13	619372	URB2, KIAA0133	URB2 ribosome biogenesis homolog	URB2	9816	ENSG00000135763			Urb2 (MGI:2681124)
chr1	230057789	230282122	1q41-q42	1q42.13	602274	GALNT2, CDG2T	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2	GALNT2	2590	ENSG00000143641		Congenital disorder of glycosylation, type IIt, 618885 (3), Autosomal recessive	Galnt2 (MGI:894694)
chr1	230314490	230426332	1q42.13	1q42.13	616791	PGBD5	Piggybac transposable element-derived 5	PGBD5	79605	ENSG00000177614			Pgbd5 (MGI:2429955)
chr1	230500001	243500000	1q42.2-q43		602759	PCAP	Predisposing for prostate cancer		7834			{Prostate cancer, susceptibility to}, 602759 (2)	
chr1	230500001	243500000	1q42.2-q43		119100	SHFL1, SHFLD	Split-hand/foot malformation with long bone deficiency 1		791121		between rs1124110 and rs535043	Split-hand/foot malformation with long bone deficiency 1, 119100 (2), Autosomal dominant	
chr1	230642481	230693982	1q42.2	1q42.2	606974	COG2, LDLC, CDG2Q	Component of oligomeric golgi complex 2	COG2	22796	ENSG00000135775	mutation identified in 1 CDG2Q patient	?Congenital disorder of glycosylation, type IIq, 617395 (3), Autosomal recessive	Cog2 (MGI:1923582)
chr1	230702523	230745583	1q42-q43	1q42.2	106150	AGT, SERPINA8	Angiotensinogen	AGT	183	ENSG00000135744		Renal tubular dysgenesis, 267430 (3), Autosomal recessive	Agt (MGI:87963)
chr1	230747388	230801989	1q42	1q42.2	606401	CAPN9	Calpain 9	CAPN9	10753	ENSG00000135773			Capn9 (MGI:1920897)
chr1	230979094	231000733	1q42.2	1q42.2	611647	ARV1, DEE38	ARV1 homolog, fatty acid homeostasis modulator	ARV1	64801	ENSG00000173409		Developmental and epileptic encephalopathy 38, 617020 (3), Autosomal recessive	Arv1 (MGI:1916115)
chr1	231162058	231221565	1q42	1q42.2	610584	TRIM67	Tripartite motif-containing protein 67	TRIM67	440730	ENSG00000119283			Trim67 (MGI:3045323)
chr1	231241212	231277973	1q42	1q42.2	602744	GNPAT, DHAPAT, RCDP2	Glyceronephosphate O-acyltransferase	GNPAT	8443	ENSG00000116906		Rhizomelic chondrodysplasia punctata, type 2, 222765 (3), Autosomal recessive	Gnpat (MGI:1343460)
chr1	231332753	231337852	1q42.2	1q42.2	615283	EXOC8, EXO84, SEC84, NEDMISB	Exocyst complex component 8	EXOC8	149371	ENSG00000116903	mutation identified in 1 NEDMISB family	?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy, 619076 (3), Autosomal recessive	Exoc8 (MGI:2142527)
chr1	231338293	231355023	1q42.2	1q42.2	616086	SPRTN, DVC1, C1orf124, RJALS	SprT-like N-terminal domain protein	SPRTN	83932	ENSG00000010072		Ruijs-Aalfs syndrome, 616200 (3), Autosomal recessive	Sprtn (MGI:2685351)
chr1	231363756	231422287	1q42-q43	1q42.2	606425	EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3, HALAH	egl-9 family hypoxia inducible factor 1	EGLN1	54583	ENSG00000135766		Erythrocytosis, familial, 3, 609820 (3), Autosomal dominant; [Hemoglobin, high altitude adaptation], 609070 (3), Autosomal dominant	Egln1 (MGI:1932286)
chr1	231528669	231566524	1q41	1q42.2	602964	TSNAX, TRAX	Translin-associated factor X	TSNAX	7257	ENSG00000116918			Tsnax (MGI:1855672)
chr1	231626790	232041272	1q42.1	1q42.2	605210	DISC1, SCZD9	Disrupted in schizophrenia 1	DISC1	27185	ENSG00000162946		{Schizophrenia 9, susceptibility to}, 604906 (3)	Disc1 (MGI:2447658)
chr1	231814626	231818517	1q42.1	1q42.2	606271	DISC2	Disrupted in schizophrenia 2	DISC2	27184		noncoding antisense RAN	Schizophrenia, 181500 (2), Autosomal dominant	
chr1	232397965	232630496	1q42.2	1q42.2	611609	SIPA1L2, KIAA1389	SIPA1-like protein 2	SIPA1L2	57568	ENSG00000116991			Sipa1l2 (MGI:2676970)
chr1	232805416	232809929	1q42.2	1q42.2	618551	MAP10, KIAA1383, MTR120	Microtubule-associated protein 10	MAP10	54627	ENSG00000212916			Map10 (MGI:1921643)
chr1	232983435	233327329	1q42.2	1q42.2	617656	PCNX2, KIAA0435	Pecanex 2	PCNX2	80003	ENSG00000135749			Pcnx2 (MGI:2445010)
chr1	233327724	233385148	1q42	1q42.2	614793	MAP3K21, MLK4, KIAA1804	Mitogen-activated protein kinase kinase kinase 21	MAP3K21	84451	ENSG00000143674			Map3k21 (MGI:2385307)
chr1	233614106	233672514	1q42-q43	1q42.2	601745	KCNK1, TWIK1	Potassium channel, subfamily K, member 1	KCNK1	3775	ENSG00000135750			Kcnk1 (MGI:109322)
chr1	234373456	234385080	1q42.2	1q42.2	614772	COA6, C1orf31, MC4DN13	Cytochrome c oxidase assembly factor 6	COA6	388753	ENSG00000168275		Mitochondrial complex IV deficiency, nuclear type 13, 616501 (3), Autosomal recessive	Coa6 (MGI:1915142)
chr1	234391313	234479179	1q42.3	1q42.2	605052	TARBP1, TRP185	TAR RNA-binding protein 1	TARBP1	6894	ENSG00000059588			Tarbp1 (MGI:4936930)
chr1	234604269	234610178	1q42.3	1q42.3	615332	IRF2BP2, CVID14	Interferon regulatory factor 2-binding protein 2	IRF2BP2	359948	ENSG00000168264	mutation identified in 1 CVID14 family	?Immunodeficiency, common variable, 14, 617765 (3), Autosomal dominant	Irf2bp2 (MGI:2443921)
chr1	235109341	235128837	1q42.3	1q42.3	601848	TOMM20, MAS20, KIAA0016	Translocase of outer mitochondrial membrane 20	TOMM20	9804	ENSG00000173726			Tomm20 (MGI:1915202)
chr1	235131183	235161250	1q42.3	1q42.3	619915	RBM34, KIAA0117	RNA-binding motif protein 34	RBM34	23029	ENSG00000188739			Rbm34 (MGI:1098653)
chr1	235166902	235328179	1q42.1-q43	1q42.3	609696	ARID4B, SAP180, RBP1L1, RBBP1L1, BRCAA1	AT-rich interactive domain-containing protein 4B	ARID4B	51742	ENSG00000054267			Arid4b (MGI:2137512)
chr1	235327216	235344532	1q43	1q42.3	606982	GGPS1, GGPPS1, MDHLO	Geranylgeranyl diphosphate synthase 1	GGPS1	9453	ENSG00000152904		Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, 619518 (3), Autosomal recessive	Ggps1 (MGI:1341724)
chr1	235367427	235452443	1q42-q43	1q42.3	604934	TBCE, KCS, KCS1, HRD, PEAMO	Tubulin-specific chaperone E	TBCE	6905	ENSG00000284770		Kenny-Caffey syndrome, type 1, 244460 (3), Autosomal recessive; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3), Autosomal recessive; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3), Autosomal recessive	Tbce (MGI:1917680)
chr1	235439796	235504452	1q42.3	1q42.3	610194	B3GALNT2, MGC39558, MDDGA11	Beta-1,3-N-acetylgalactosaminyltransferase 2	B3GALNT2	148789	ENSG00000162885		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181 (3), Autosomal recessive	B3galnt2 (MGI:2145517)
chr1	235547685	235650608	1q42.3	1q42.3	604388	GNG4	Guanine nucleotide-binding protein, gamma 4	GNG4	2786	ENSG00000168243			Gng4 (MGI:102703)
chr1	235661031	235883713	1q42.3	1q42.3	606897	LYST, CHS1	Lysosomal trafficking regulator	LYST	1130	ENSG00000143669		Chediak-Higashi syndrome, 214500 (3), Autosomal recessive	Lyst (MGI:107448)
chr1	235975830	236065090	1q43	1q42.3	131390	NID	Nidogen	NID1	4811	ENSG00000116962			Nid1 (MGI:97342)
chr1	236142539	236208907	1q42-q43	1q42.3	604658	TM7SF1	Transmembrane 7 superfamily, member 1	GPR137B	7107	ENSG00000077585			Gpr137b (MGI:1891463)
chr1	236215101	236281958	1q42.3	1q42.3	615437	ERO1LB	Endoplasmic reticulum oxidoreduction 1-like beta	ERO1B	56605	ENSG00000086619			Ero1b (MGI:1914725)
chr1	236348259	236484930	1q42.2-q43	1q42.3-q43	606603	EDARADD, ED3, EDA3, ECTD11B, ECTD11A	EDAR-associated death domain	EDARADD	128178	ENSG00000186197		Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3), Autosomal recessive; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3), Autosomal dominant	Edaradd (MGI:1931001)
chr1	236400001	248956422	1q43-q44		612433	DFNB45	Deafness, autosomal recessive 45		449483		between D1S547 and D1S2836	Deafness, autosomal recessive 45, 612433 (2), Autosomal recessive	
chr1	236518214	236552981	1q42-q43	1q43	606099	LGALS8, PCTA1	Lectin, galactoside-binding, soluble, 8	LGALS8	3964	ENSG00000116977			Lgals8 (MGI:1928481)
chr1	236549005	236604516	1q43	1q43	620390	HEATR1, UTP10	HEAT repeat-containing protein 1	HEATR1	55127	ENSG00000119285			Heatr1 (MGI:2442524)
chr1	236686499	236764631	1q42-q43	1q43	102573	ACTN2, CMD1AA, CMH23, CMYO8, MPD6	Actinin, alpha-2	ACTN2	88	ENSG00000077522		Myopathy, distal, 6, adult onset, 618655 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3), Autosomal dominant; Congenital myopathy 8, 618654 (3), Autosomal dominant; Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3), Autosomal dominant	Actn2 (MGI:109192)
chr1	236795281	236903981	1q43	1q43	156570	MTR, HMAG	5-methyltetrahydrofolate-homocysteine methyltransferase 1	MTR	4548	ENSG00000116984		{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive; Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3), Autosomal recessive	Mtr (MGI:894292)
chr1	237042184	237833988	1q42.1-q43	1q43	180902	RYR2, VTSIP, ARVC2, VACRDS	Ryanodine receptor-2 (cardiac)	RYR2	6262	ENSG00000198626		Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3), Autosomal dominant; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, 115000 (3), Autosomal dominant	Ryr2 (MGI:99685)
chr1	237882404	237890922	1q43	1q43	613514	ZP4, ZPB	Zona pellucida glycoprotein 4	ZP4	57829	ENSG00000116996			
chr1	239386568	239915450	1q43	1q43	118494	CHRM3, PBS, EGBRS	Cholinergic receptor, muscarinic, 3	CHRM3	1131	ENSG00000133019		Prune belly syndrome, 100100 (3), Autosomal recessive	Chrm3 (MGI:88398)
chr1	240091883	240475187	1q43	1q43	606373	FMN2, MRT47	Formin 2	FMN2	56776	ENSG00000155816		Intellectual developmental disorder, autosomal recessive 47, 616193 (3), Autosomal recessive	Fmn2 (MGI:1859252)
chr1	240489573	240612155	1q43	1q43	608832	GREM2, PRDC, STHAG9	Gremlin 2, DAN family BMP antagonist	GREM2	64388	ENSG00000180875		Tooth agenesis, selective, 9, 617275 (3), Autosomal dominant	Grem2 (MGI:1344367)
chr1	240774742	241357230	1q43	1q43	602517	RGS7	Regulator of G protein signaling 7	RGS7	6000	ENSG00000182901			Rgs7 (MGI:1346089)
chr1	241497603	241519755	1q42.1	1q43	136850	FH, HLRCC, MCUL1, FMRD	Fumarate hydratase	FH	2271	ENSG00000091483		Leiomyomatosis and renal cell cancer, 150800 (3), Autosomal dominant; Fumarase deficiency, 606812 (3), Autosomal recessive	Fh1 (MGI:95530)
chr1	241532378	241595642	1q43	1q43	603538	KMO	Kynurenine 3-monooxygenase	KMO	8564	ENSG00000117009			Kmo (MGI:2138151)
chr1	241593124	241640369	1q43	1q43	606695	OPN3, ECPN	Opsin 3	OPN3	23596	ENSG00000054277			Opn3 (MGI:1338022)
chr1	241628851	241640369	1q43	1q43	118825	CHML, REP2	Choroideremia-like	CHML	1122	ENSG00000203668			Chml (MGI:101913)
chr1	241847986	241889939	1q42-q43	1q43	606063	EXO1, HEX1	Exonuclease 1	EXO1	9156	ENSG00000174371			Exo1 (MGI:1349427)
chr1	241957767	241959062	1q43	1q43	615687	BECN2, BECN1L1	Beclin 2	BECN2	441925	ENSG00000196289			Becn2 (MGI:2684950)
chr1	241995490	242001393	1q43	1q43	609605	MAP1LC3C, LC3C	Microtubule-associated protein 1, light chain 3, gamma	MAP1LC3C	440738	ENSG00000197769			
chr1	243124428	243255785	1q44	1q43	613023	CEP170, KIAA0470	Centrosomal protein, 170kD	CEP170	9859	ENSG00000143702			Cep170 (MGI:1918348)
chr1	243256041	243500091	1q43-q44	1q43-q44	613524	SDCCAG8, CCCAP, SLSN7, BBS16	SHH signaling and ciliogenesis regulator SDCCAG8	SDCCAG8	10806	ENSG00000054282		Senior-Loken syndrome 7, 613615 (3), Autosomal recessive; Bardet-Biedl syndrome 16, 615993 (3), Autosomal recessive	Sdccag8 (MGI:1924066)
chr1	243488233	243851079	1q44	1q43-q44	611223	AKT3, PKBG, MPPH2	AKT serine/threonine kinase 3	AKT3	10000	ENSG00000117020		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3), Autosomal dominant	Akt3 (MGI:1345147)
chr1	244048491	244057476	1q44	1q44	608433	ZBTB18, ZNF238, RP58, MRD22	Zinc finger and BTB domain containing 18	ZBTB18	10472	ENSG00000179456		Intellectual developmental disorder, autosomal dominant 22, 612337 (3), Autosomal dominant	Zbtb18 (MGI:1353609)
chr1	244408494	244452060	1cen-q12	1q44	103060	ADSS	Adenylosuccinate synthetase (Ade(-)H-complementing)	ADSS2	159	ENSG00000035687			Adss2 (MGI:87948)
chr1	244451242	244640504	1q44	1q44	617510	CATSPERE, C10orf101	Cation channel, sprem-associated, auxiliary subunit epsilon	CATSPERE	257044	ENSG00000179397			Catspere1,Catspere2 (MGI:3647531,MGI:5589632)
chr1	244653126	244709033	1q44	1q44	614638	DESI2, PPPDE1	Desumoylating isopeptidase 2	DESI2	51029	ENSG00000121644			Desi2 (MGI:1926075)
chr1	244835306	244845063	1q44	1q44	614698	COX20, FAM36A, MC4DN11	Cytochrome c oxidase assembly factor COX20	COX20	116228	ENSG00000203667		Mitochondrial complex IV deficiency, nuclear type 11, 619054 (3), Autosomal recessive	Cox20 (MGI:1913609)
chr1	244850297	244864543	1q44	1q44	602869	HNRNPU, HNRPU, SAFA, DEE54	Heterogeneous nuclear ribonucleoprotein U	HNRNPU	3192	ENSG00000153187		Developmental and epileptic encephalopathy 54, 617391 (3), Autosomal dominant	Hnrnpu (MGI:1858195)
chr1	244969682	245125229	1q44	1q44	619617	EFCAB2, DRC8	EF-hand calcium-binding domain-containing protein 2	EFCAB2	84288	ENSG00000203666			Efcab2 (MGI:1915476)
chr1	245154985	245709432	1q44	1q44	614026	KIF26B	Kinesin family member 26B	KIF26B	55083	ENSG00000162849			Kif26b (MGI:2447076)
chr1	245749347	246507279	1q44	1q44	608783	SMYD3	SET and MYND domain-containing protein 3	SMYD3	64754	ENSG00000185420			Smyd3 (MGI:1916976)
chr1	246540561	246566261	1q44	1q44	607055	TFB2M	Transcription factor B2, mitochondrial	TFB2M	64216	ENSG00000162851			Tfb2m (MGI:107937)
chr1	246566456	246668595	1q44	1q44	613439	CNST	Consortin	CNST	163882	ENSG00000162852			Cnst (MGI:2445141)
chr1	246724409	246768137	1q44	1q44	620831	SCCPDH, CGI49	Saccharopine dehydrogenase, putative	SCCPDH	51097	ENSG00000143653			Sccpdh (MGI:1924486)
chr1	246839098	246931948	1q44	1q44	610853	AHCTF1, ELYS	AT hook containing transcription factor 1	AHCTF1	25909	ENSG00000153207			Ahctf1 (MGI:1915033)
chr1	246945546	247008057	1q44	1q44	616348	ZNF695, SBZF3	Zinc finger protein 695	ZNF695	57116	ENSG00000197472			
chr1	247121975	247172379	1q44	1q44	194631	ZNF124	Zinc finger protein-124 (HZF-16)	ZNF124	7678	ENSG00000196418			Gm14322,Gm20541,Zfp101,Zfp709,Zfp81,Zfp952 (MGI:107547,MGI:1890752,MGI:2384299,MGI:2441928,MGI:3652185,MGI:5142006)
chr1	247297415	247331867	1q44	1q44	613911	ZNF496, NIZP1, ZFP496	Zinc finger protein 496	ZNF496	84838	ENSG00000162714			Zkscan17 (MGI:2679270)
chr1	247416077	247448817	1q44	1q44	606416	NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH	NLR family, pyrin domain containing 3	NLRP3	114548	ENSG00000162711		CINCA syndrome, 607115 (3), Autosomal dominant; Familial cold inflammatory syndrome 1, 120100 (3), Autosomal dominant; Keratoendothelitis fugax hereditaria, 148200 (3), Autosomal dominant; Deafness, autosomal dominant 34, with or without inflammation, 617772 (3), Autosomal dominant; Muckle-Wells syndrome, 191900 (3), Autosomal dominant	Nlrp3 (MGI:2653833)
chr1	247670812	247679739	1q44	1q44	611677	OR13G1	Olfactory receptor, family 13, subfamily G, member 1	OR13G1	441933	ENSG00000197437			Or13g1 (MGI:3030143)
chr1	247857187	247880138	1q44	1q44	620527	TRIM58	Tripartite motif-containing protein 58	TRIM58	25893	ENSG00000162722			Trim58 (MGI:2684862)
chr1	247895587	247896531	1q44	1q44	616729	OR2W3	Olfactory receptor family 2 subfamily W member 3	OR2W3	343171	ENSG00000238243			Or2w3,Or2w3b (MGI:3030151,MGI:3030156)
chr1	248323630	248324568	1q44	1q44	618509	OR2M7	Olfactory receptor, family 2, subfamily M, member 7	OR2M7	391196	ENSG00000177186			Or2m12,Or2m13 (MGI:3029998,MGI:3029999)
chr1	248678138	248702766	1q44	1q44	618516	OR14I1	Olfactory receptor, family 14, subfamily I, member 1	OR14I1	401994	ENSG00000189181			
chr1	248739415	248755759	1q44	1q44	617067	LYPD8	LY6/PLAUR domain-containing protein 8	LYPD8	646627	ENSG00000259823			Lypd8 (MGI:1917413)
chr1	248810446	248825915	1q44	1q44	620652	SH3BP5L	SH3 domain-binding protein 5-like	SH3BP5L	80851	ENSG00000175137			Sh3bp5l (MGI:1933124)
chr1	248850008	248859085	1q44	1q44	617758	ZNF692, AREBP	Zinc finger protein 692	ZNF692	55657	ENSG00000171163			Zfp692 (MGI:2144276)
chr2	1	12000000	2p25		612396	ALLC	Allantoicase	ALLC	55821	ENSG00000151360	nonfunctional in humans		
chr2	1	23800000	2pter-p24		115800	CTRCT29	Cataract 29, coralliform		101867602		between D2S297 and D2S2269	Cataract 29, coralliform, 115800 (2), Autosomal dominant	
chr2	1	41500000	2p25-p22		602134	ETM2, ETM	Tremor, hereditary essential, 2		2112		max lod at D2S272	Essential tremor, hereditary, 2, 602134 (2), Autosomal dominant	
chr2	1	23800000	2p25-p24		607329	HYT3	Hypertension, essential, susceptibility to, 3		387575			{Hypertension, essential, susceptibility to, 3}, 145500 (2), Multifactorial	
chr2	1	12000000	2p25		609402	PEE2	Preeclampsia/eclampsia 2		780908			Preeclampsia/eclampsia 2, 609402 (2)	
chr2	1	83100000	2p25-p12		101850	PPKP3	Keratoderma, palmoplantar, punctate type III				max lod at ACP1 and IGKC	?Keratoderma, palmoplantar, punctate type 3, 101850 (2), Autosomal dominant	
chr2	38814	46505	2p25.3	2p25.3	611395	FAM110C	Family with sequence similarity 110, member C	FAM110C	642273	ENSG00000184731			Fam110c (MGI:1918813)
chr2	218136	264824	2p25.3	2p25.3	617314	SH3YL1	SH3 domain- and SYLF domain-containing protein 1	SH3YL1	26751	ENSG00000035115			Sh3yl1 (MGI:1346118)
chr2	264947	278283	2p25	2p25.3	171500	ACP1	Acid phosphatase 1, soluble	ACP1	52	ENSG00000143727			Acp1 (MGI:87881)
chr2	279558	288091	2p25.3	2p25.3	619671	ALKAL2, FAM150B, AUGA	ALK and LTK ligand 2	ALKAL2	285016	ENSG00000189292			Alkal2 (MGI:3697448)
chr2	663877	677406	2p25.3	2p25.3	613220	TMEM18	Transmembrane protein 18	TMEM18	129787	ENSG00000151353			Tmem18 (MGI:2387176)
chr2	950849	1367613	2p25	2p25.3	608715	SNTG2, SYN5	Syntrophin, gamma-2	SNTG2	54221	ENSG00000172554			Sntg2 (MGI:1919541)
chr2	1374047	1543673	2p25	2p25.3	606765	TPO, TPX, TDH2A	Thyroid peroxidase	TPO	7173	ENSG00000115705		Thyroid dyshormonogenesis 2A, 274500 (3), Autosomal recessive	Tpo (MGI:98813)
chr2	1631887	1744901	2p25.3	2p25.3	605158	PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA, ASGD7	Peroxidasin	PXDN	7837	ENSG00000130508		Anterior segment dysgenesis 7, with sclerocornea, 269400 (3), Autosomal recessive	Pxdn (MGI:1916925)
chr2	1789113	2331275	2p24	2p25.3	613084	MYT1L, KIAA1106, MRD39	Myelin transcription factor 1-like	MYT1L	23040	ENSG00000186487		Intellectual developmental disorder, autosomal dominant 39, 616521 (3), Autosomal dominant	Myt1l (MGI:1100511)
chr2	3188970	3377818	2p25.2	2p25.3	608998	EIPR1, TSSC1	EARP complex and GARP complex interacting protein 1	EIPR1	7260	ENSG00000032389			Eipr1 (MGI:1289332)
chr2	3379694	3479565	2p25.3	2p25.3	614139	TRAPPC12, TTC15, PEBAS	Trafficking protein particle complex, subunit 12	TRAPPC12	51112	ENSG00000171853		Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3), Autosomal recessive	Trappc12 (MGI:2445089)
chr2	3497366	3519531	2p25.3	2p25.3	613400	ADI1, SIPL	Acireductone dioxygenase 1	ADI1	55256	ENSG00000182551			Adi1 (MGI:2144929)
chr2	3531813	3558333	2p25	2p25.3	604123	RNASEH1, PEOB2	Ribonuclease H1	RNASEH1	246243	ENSG00000171865	pseudogenes on chr. 17 and chr.1	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3), Autosomal recessive	Rnaseh1 (MGI:1335073)
chr2	3575260	3580920	2p25	2p25.3	603658	RPS7, DBA8	Ribosomal protein S7	RPS7	6201	ENSG00000171863		Diamond-Blackfan anemia 8, 612563 (3), Autosomal dominant	Rps7 (MGI:1333818)
chr2	3595112	3644644	2p25.3	2p25.3	612502	COLEC11, CLK1, 3MC2	Collectin 11	COLEC11	78989	ENSG00000118004		3MC syndrome 2, 265050 (3), Autosomal recessive	Colec11 (MGI:1918943)
chr2	5692384	5701385	2p25	2p25.2	600898	SOX11, MRD27, IDDMOH	SRY-box 11	SOX11	6664	ENSG00000176887		Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, 615866 (3), Autosomal dominant	Sox11 (MGI:98359)
chr2	6828554	6840464	2p25.2	2p25.2	620418	NRIR	Negative regulator of interferon response, noncoding	NRIR	104326052				
chr2	6840553	6866635	2p25.2	2p25.2	611787	CMPK2, IBGC10	Cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	CMPK2	129607	ENSG00000134326		Basal ganglia calcification, idiopathic, 10, autosomal recessive, 621018 (3), Autosomal recessive	Cmpk2 (MGI:99830)
chr2	6865885	6898239	2p25.2	2p25.2	607810	RSAD2, VIPERIN	Radical S-adenosyl methionine domain containing 2	RSAD2	91543	ENSG00000134321			Rsad2 (MGI:1929628)
chr2	6900001	16500000	2p25.1-p24.3		609946	DFNB47	Deafness, neurosensory, autosomal recessive 47		449489		max lod at D2S1400 and D2S262	Deafness, neurosensory, autosomal recessive 47, 609946 (2), Autosomal recessive	
chr2	6917412	7076367	2p25.2-p25.1	2p25.1	619454	RNF144A, UIP4, KIAA0161	RING finger protein 144A	RNF144A	9781	ENSG00000151692			Rnf144a (MGI:1344401)
chr2	8682056	8684461	2p25	2p25.1	600386	ID2	Inhibitor of DNA binding 2, dominant negative	ID2	3398	ENSG00000115738			Id2 (MGI:96397)
chr2	8721081	8837613	2p25.1	2p25.1	615759	KIDINS220, ARMS, SINO, VENARG	Kinase D-interacting substrate, 220kD	KIDINS220	57498	ENSG00000134313		Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3), Autosomal dominant; Ventriculomegaly and arthrogryposis, 619501 (3), Autosomal recessive	Kidins220 (MGI:1924730)
chr2	8852690	9003684	2p25.1	2p25.1	611949	MBOAT2, LPCAT4	Membrane-bound O-acyltransferase domain-containing 2	MBOAT2	129642	ENSG00000143797			Mboat2 (MGI:1914466)
chr2	9206812	9405678	2p24	2p25.1	603817	DDEF2, PAP	Development- and differentiation-enhancing factor 2	ASAP2	8853	ENSG00000151693			Asap2 (MGI:2685438)
chr2	9403475	9423569	2p25.2	2p25.1	607153	ITGB1BP1, ICAP1, ICAP1A, ICAP1B	Integrin cytoplasmic domain-associated protein 1 beta	ITGB1BP1	9270	ENSG00000119185			Itgb1bp1 (MGI:1306802)
chr2	9423654	9473101	2p25.1	2p25.1	606029	CPSF3, CPSF73, NEDMHSN	Cleavage and polyadenylation specificity factor 3	CPSF3	51692	ENSG00000119203		Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, 619876 (3), Autosomal recessive	Cpsf3 (MGI:1859328)
chr2	9488486	9555830	2p25	2p25.1	603639	ADAM17, TACE, NISBD1	ADAM metallopeptidase domain 17	ADAM17	6868	ENSG00000151694	mutation identified in 1 NISBD1 family	?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3), Autosomal recessive	Adam17 (MGI:1096335)
chr2	9583967	9630997	2p25.1	2p25.1	609009	TYHAQ	Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta isoform	YWHAQ	10971	ENSG00000134308	pseudogene on chr.22		Ywhaq,Ywhaq-ps3 (MGI:3650241,MGI:891963)
chr2	9843442	9934416	2p25	2p25.1	604904	RAF1B, RAFI63, SL1	TATA box-binding protein-associated factor 1B	TAF1B	9014	ENSG00000115750			Taf1b (MGI:109577)
chr2	9951693	10002277	2p25.1	2p25.1	609786	GRHL1, LBP32, MGR	Grainyhead-like 1	GRHL1	29841	ENSG00000134317			Grhl1 (MGI:2182540)
chr2	10043550	10054836	2p25	2p25.1	603301	KLF11, TIEG2, FKLF1, FKLF, MODY7	Kruppel-like factor 11	KLF11	8462	ENSG00000172059		Maturity-onset diabetes of the young, type VII, 610508 (3)	Klf11 (MGI:2653368)
chr2	10056473	10080411	2p25	2p25.1	618713	CYS1	Cystin 1	CYS1	192668	ENSG00000205795			Cys1 (MGI:2177632)
chr2	10122568	10211010	2p25-p24	2p25.1	180390	RRM2	Ribonucleotide reductase, M2 polypeptide	RRM2	6241	ENSG00000171848	pseudogenes on 1p, 1q, Xp		Rrm2 (MGI:98181)
chr2	10302904	10427604	2p25.1	2p25.1	600207	HPCAL1	Hippocalcin-like 1	HPCAL1	3241	ENSG00000115756			Hpcal1 (MGI:1855689)
chr2	10439968	10448327	2p25	2p25.1	165640	ODC1, BABS	Ornithine decarboxylase-1	ODC1	4953	ENSG00000115758	pseudogene ODCP on 7q31-qter	Bachmann-Bupp syndrome, 619075 (3), Autosomal dominant	Odc1 (MGI:97402)
chr2	10570754	10689975	2p25.1	2p25.1	616197	NOL10, PQBP5	Nucleolar protein 10	NOL10	79954	ENSG00000115761			Nol10 (MGI:2684913)
chr2	10720943	10785110	2p25.1	2p25.1	618070	ATP6V1C2	ATPase, H+ transporting, V1 subunit C2	ATP6V1C2	245973	ENSG00000143882			Atp6v1c2 (MGI:1916025)
chr2	10783391	10837712	2p25-p24	2p25.1	611099	PDIA6, ERP5	Protein disulfide isomerase, family A, member 6	PDIA6	10130	ENSG00000143870			Pdia6 (MGI:1919103)
chr2	10911934	10914225	2p25	2p25.1	603787	KCNF1, KH1	Potassium voltage-gated channel, subfamily F, member 1	KCNF1	3754	ENSG00000162975			Kcnf1 (MGI:2687399)
chr2	11179759	11345437	2p24	2p25.1	604002	ROCK2	RHO-associated coiled-coil-containing protein kinase 2	ROCK2	9475	ENSG00000134318			Rock2 (MGI:107926)
chr2	11444375	11466161	2p25.1	2p25.1	602944	E2F6	E2F transcription factor 6	E2F6	1876	ENSG00000169016			E2f6 (MGI:1354159)
chr2	11482888	11642788	2p25.1	2p25.1	611736	GREB1	GREB1 protein	GREB1	9687	ENSG00000196208			Greb1 (MGI:2149712)
chr2	11658178	11670195	2p25.1	2p25.1	605538	NTSR2	Neurotensin receptor 2	NTSR2	23620	ENSG00000169006			Ntsr2 (MGI:108018)
chr2	11677544	11827409	2p21	2p25.1	605518	LPIN1	Lipin 1	LPIN1	23175	ENSG00000134324	related to LSL	Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3), Autosomal recessive	Lpin1 (MGI:1891340)
chr2	12000001	41500000	2p24-p22		610760	CLQTL2	Cholesterol level quantitative trait locus 2		100188817		max lod at D2S1360	[Cholesterol level QTL 2], 610760 (2)	
chr2	12000001	23800000	2p24		609800	GEFSP4	Generalized epilepsy with febrile seizures plus, type 4		100188796		max lod at D2S305	Generalized epilepsy with febrile seizures plus, type 4, 609800 (2), Autosomal dominant	
chr2	12000001	23800000	2p24		609271	KTCN4	Keratoconus 4		550624		between D2S305 and D2S2373	Keratoconus 4, 609271 (2)	
chr2	12716936	12742734	2p24.3	2p24.3	609462	TRIB2, TRB2	Tribbles pseudokinase 2	TRIB2	28951	ENSG00000071575			Trib2 (MGI:2145021)
chr2	14632717	14651916	2p24.3	2p24.3	611234	LRATD1, FAM84A, NSE1	LRAT domain containing 1 gene	LRATD1	151354	ENSG00000162981			Lratd1 (MGI:2145011)
chr2	14778909	15561334	2p24-p23	2p24.3	608025	NBAS, NAG, SOPH, ILFS2	NBAS subunit of NRZ tethering complex	NBAS	51594	ENSG00000151779		Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Autosomal recessive; Infantile liver failure syndrome 2, 616483 (3), Autosomal recessive	Nbas (MGI:1918419)
chr2	15591868	15631101	2p24	2p24.3	601257	DDX1	DEAD-box helicase 1	DDX1	1653	ENSG00000079785			Ddx1 (MGI:2144727)
chr2	15920399	15936018	2p24.3	2p24.3	615968	MYCNUT	MYCN upstream transcript, noncoding	MYCNUT	103752554	ENSG00000223850			
chr2	15936265	15942433	2p24.1	2p24.3	605374	MYCNOS, NCYM	Oncogene NCYM, opposite strand	MYCNOS	10408	ENSG00000233718			
chr2	15940550	15947004	2p24.1	2p24.3	164840	MYCN, NMYC, FGLDS1, MPAPA	Oncogene NMYC	MYCN	4613	ENSG00000134323	proximal to APOB	Feingold syndrome 1, 164280 (3), Autosomal dominant; Megalencephaly-polydactyly syndrome, 620748 (3), Autosomal dominant	Mycn,Mycs (MGI:1332242,MGI:97357)
chr2	16050427	16085689	2p24.3	2p24.3	616132	GACAT3, LINC01458	Gastric cancer-associated transcript 3, noncoding	GACAT3	104797537	ENSG00000236289			
chr2	17539972	17657018	2p24.2	2p24.2	600817	VSNL1, VILIP, HLP3	Visinin-like 1	VSNL1	7447	ENSG00000163032			Vsnl1 (MGI:1349453)
chr2	17663812	17753810	2p24.2	2p24.2	609387	SMC6L1, SMC6	Structural maintenance of chromosomes 6-like 1	SMC6	79677	ENSG00000163029			Smc6 (MGI:1914491)
chr2	17753278	17788946	2p24.2	2p24.2	612449	GEN1	GEN1 Holliday junction 5' flap endonuclease	GEN1	348654	ENSG00000178295			Gen1 (MGI:2443149)
chr2	17816460	17817798	2p24.2	2p24.2	612209	MSGN1	Mesogenin 1	MSGN1	343930	ENSG00000151379			Msgn1 (MGI:1860483)
chr2	17877847	17932958	2p24	2p24.2	603888	KCNS3, KV9.3	Potassium voltate-gated channel, delayed-rectifier, subfamily S, member 3	KCNS3	3790	ENSG00000170745			Kcns3 (MGI:1098804)
chr2	18554723	18560653	2p24.2	2p24.2	616796	RDH14, SDR7C4, PAN2	Retinol dehydrogenase 14	RDH14	57665	ENSG00000240857			Rdh14 (MGI:1920402)
chr2	18562871	18589569	2p24.2	2p24.2	610526	NT5C1B, CN1B, AIRP	5'-nucleotidase, cytosolic, Ib	NT5C1B	93034	ENSG00000185013			Nt5c1b (MGI:1918131)
chr2	19344874	19358623	2p24	2p24.1	608891	ODD, OSR1	ODD-skipped-related transcription factor 1	OSR1	130497	ENSG00000143867			Osr1 (MGI:1344424)
chr2	19910263	19990105	2p24.1	2p24.1	613602	WDR35, NAOFEN, KIAA1336, CED2, SRTD7	WD repeat-containing protein 35	WDR35	57539	ENSG00000118965		Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3), Autosomal recessive; Cranioectodermal dysplasia 2, 613610 (3), Autosomal recessive	Wdr35 (MGI:1921932)
chr2	19992052	20012668	2p24-p23	2p24.1	602109	MATN3, EDM5, HOA, OS2, SEMDBCD	Matrilin 3	MATN3	4148	ENSG00000132031		{Osteoarthritis susceptibility 2}, 140600 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, 608728 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 5, 607078 (3), Autosomal dominant	Matn3 (MGI:1328350)
chr2	20032650	20051628	2q24.1	2p24.1	618837	LAPTM4A	Lysosome-associated protein, transmembrane 4, alpha	LAPTM4A	9741	ENSG00000068697			Laptm4a (MGI:108017)
chr2	20200797	20225475	2p24.1	2p24.1	186355	SDC1	Syndecan 1	SDC1	6382	ENSG00000115884	close to NMYC in mouse		Sdc1 (MGI:1349162)
chr2	20248691	20352253	2p22-p21	2p24.1	607205	PUM2, KIAA0235	Pumilio RNA binding family member 2	PUM2	23369	ENSG00000055917			Pum2 (MGI:1931751)
chr2	20447074	20449440	2p24.1	2p24.1	165370	RHOB, ARHB, ARH6, RHOH6	RAS homolog gene family, member B (oncogene RHO H6)	RHOB	388	ENSG00000143878			Rhob (MGI:107949)
chr2	20553861	20651098	2p24.1	2p24.1	609359	HS1BP3, FLJ14249, ETM2	HS1-binding protein 3	HS1BP3	64342	ENSG00000118960			Hs1bp3 (MGI:1913224)
chr2	20667144	20679243	2p24-p23	2p24.1	604651	GDF7	Growth/differentiation factor 7	GDF7	151449	ENSG00000143869			Gdf7 (MGI:95690)
chr2	20682489	20823101	2p24.1	2p24.1	613570	LDAH, C2orf43	Lipid droplet associated hydrolase	LDAH	60526	ENSG00000118961			Ldah (MGI:1916082)
chr2	21001429	21044073	2p24	2p24.1	107730	APOB, FLDB, LDLCQ4, FCHL2	Apolipoprotein B (including Ag(x) antigen)	APOB	338	ENSG00000084674	1 gene for liver apo-B100 and gut apo-B48; Ag linked	Hypercholesterolemia, familial, 2, 144010 (3), Autosomal dominant; Hypobetalipoproteinemia, 615558 (3), Autosomal recessive	Apob (MGI:88052)
chr2	23677969	23927123	2p24.1-p23.3	2p24.1-p23.3	615347	ATAD2B, KIAA1240	ATPase family, AAA domain-containing, member 2B	ATAD2B	54454	ENSG00000119778			Atad2b (MGI:2444798)
chr2	23800001	36300000	2p23.3-p22.3		609955	GINGF3, HGF3, GGF3	Fibromatosis, gingival, 3		780916		between D2S2221 and D2S1788	Fibromatosis, gingival, 3, 609955 (2), Autosomal dominant	
chr2	24010085	24026775	2p23.3	2p23.3	617845	MFSD2B	Major facilitator superfamily domain-containing protein 2B	MFSD2B	388931	ENSG00000205639			Mfsd2b (MGI:3583946)
chr2	24029347	24047391	2p23.3	2p23.3	616234	C2orf44, WDCP	WD repeat- and coiled-coil-containing protein	WDCP	80304	ENSG00000163026			Wdcp (MGI:3040699)
chr2	24033206	24063681	2p23.3	2p23.3	600620	FKBP1B, PKBP1L	FK506-binding protein 1B	FKBP1B	2281	ENSG00000119782			Fkbp1b (MGI:1336205)
chr2	24067586	24076326	2p25	2p23.3	607835	SF3B6, SAP14, SF3B14, P14	Splicing factor 3B, subunit 6	SF3B6	51639	ENSG00000115128			Sf3b6 (MGI:1913305)
chr2	24077433	24084834	2p23.3	2p23.3	605171	TP53I3, PIG3	Tumor protein p53-inducible protein 3	TP53I3	9540	ENSG00000115129			
chr2	24114809	24123491	2p23.3	2p23.3	620046	PFN4	Profilin family, member 4	PFN4	375189	ENSG00000176732			Pfn4 (MGI:1920121)
chr2	24202864	24361368	2p25	2p23.3	604464	ITSN2, SH3D1B, SWAP, KIAA1256	Intersectin 2	ITSN2	50618	ENSG00000198399			Itsn2 (MGI:1338049)
chr2	24491254	24770702	2p23	2p23.3	602691	NCOA1, SRC1	Nuclear receptor coactivator 1	NCOA1	8648	ENSG00000084676			Ncoa1 (MGI:1276523)
chr2	24789728	24793391	2p23.3	2p23.3	617342	PRTHD1, C2orf79, NEDPBA	Peptidyl-tRNA hydrolase domain-containing 1	PTRHD1	391356	ENSG00000184924		Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, 620747 (3), Autosomal recessive	Ptrhd1 (MGI:1916959)
chr2	24793425	24822376	2p23.3	2p23.3	611504	CENPO	Centromeric protein O	CENPO	79172	ENSG00000138092			Cenpo (MGI:1923800)
chr2	24819169	24920237	2p24-p22	2p23.3	600291	ADCY3, BMIQ19	Adenylate cyclase-3	ADCY3	109	ENSG00000138031		{Obesity, susceptibility to, BMIQ19}, 617885 (3), Autosomal recessive	Adcy3 (MGI:99675)
chr2	24943636	24972094	2p23.3	2p23.3	613527	DNAJC27, RBJ	DNAJ/HSP40 homolog, subfamily, C, member 27	DNAJC27	51277	ENSG00000115137			Dnajc27 (MGI:2443036)
chr2	25042076	25159135	2p23.3	2p23.3	616797	EFR3B, KIAA0953	EFR3 homolog B	EFR3B	22979	ENSG00000084710			Efr3b (MGI:2444851)
chr2	25160860	25168580	2p23.3	2p23.3	176830	POMC, OBAIRH	Proopiomelanocortin (adrenocorticotropin/beta-lipotropin)	POMC	5443	ENSG00000115138		{Obesity, early-onset, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3), Autosomal recessive	Pomc (MGI:97742)
chr2	25227874	25342590	2p23	2p23.3	602769	DNMT3A, TBRS, HESJAS	DNA methyltransferase 3A	DNMT3A	1788	ENSG00000119772		Tatton-Brown-Rahman syndrome, 615879 (3), Autosomal dominant; Acute myeloid leukemia, somatic, 601626 (3); Heyn-Sproul-Jackson syndrome, 618724 (3), Autosomal dominant	Dnmt3a (MGI:1261827)
chr2	25377243	25673577	2p23-p22	2p23.3	602415	DTNB	Dystrobrevin, beta	DTNB	1838	ENSG00000138101			Dtnb (MGI:1203728)
chr2	25733753	25878487	2p23.3	2p23.3	612991	ASXL2, KIAA1685, SHAPNS	ASXL transcriptional regulator 2	ASXL2	55252	ENSG00000143970		Shashi-Pena syndrome, 617190 (3), Autosomal dominant	Asxl2 (MGI:1922552)
chr2	25926598	25982497	2p23	2p23.3	602845	KIF3C	Kinesin family member 3C	KIF3C	3797	ENSG00000084731			Kif3c (MGI:107979)
chr2	26033285	26137454	2p23.3	2p23.3	612672	RAB10	Ras-associated protein	RAB10	10890	ENSG00000084733			Rab10 (MGI:105066)
chr2	26173088	26204304	2p23.1	2p23.3	617999	GAREM2	GRB2-associated regulator of MAPK1, subtype 2	GAREM2	150946	ENSG00000157833			Garem2 (MGI:2685290)
chr2	26190635	26244632	2p23	2p23.3	600890	HADHA, MTPA	Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/ enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit	HADHA	3030	ENSG00000084754		HELLP syndrome, maternal, of pregnancy, 609016 (3), Autosomal recessive; LCHAD deficiency, 609016 (3), Autosomal recessive; Mitochondrial trifunctional protein deficiency 1, 609015 (3), Autosomal recessive; Fatty liver, acute, of pregnancy, 609016 (3), Autosomal recessive	Hadha (MGI:2135593)
chr2	26244939	26290465	2p23	2p23.3	143450	HADHB, MTPD2	Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase /enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit	HADHB	3032	ENSG00000138029		Mitochondrial trifunctional protein deficiency 2, 620300 (3), Autosomal recessive	Hadhb (MGI:2136381)
chr2	26308173	26346789	2p23.3	2p23.3	620873	ADGRF3, GPR113	Adhesion G protein-coupled recetpor F3	ADGRF3	165082	ENSG00000173567			Adgrf3 (MGI:2685887)
chr2	26346143	26395885	2p23.3	2p23.3	607915	SELENOI, SELI, SPG81	Selenoprotein I	SELENOI	85465	ENSG00000138018		Spastic paraplegia 81, autosomal recessive, 618768 (3), Autosomal recessive	Selenoi (MGI:107898)
chr2	26401920	26456711	2p23.3	2p23.3	615288	DRC1, CCDC164, C2orf39, CILD21, SPGF80	Dynein regulatory complex, subunit 1	DRC1	92749	ENSG00000157856		Spermatogenic failure 80, 620222 (3), Autosomal recessive; Ciliary dyskinesia, primary, 21, 615294 (3), Autosomal recessive	Drc1 (MGI:2685906)
chr2	26457203	26558756	2p23-p22	2p23.3	603681	OTOF, DFNB9, NSRD9, AUNB1	Otoferlin	OTOF	9381	ENSG00000115155	symbolized DFNB6 by authors	Auditory neuropathy, autosomal recessive, 1, 601071 (3), Autosomal recessive; Deafness, autosomal recessive 9, 601071 (3), Autosomal recessive	Otof (MGI:1891247)
chr2	26581205	26641366	2p23.3	2p23.3	610646	CIB4, KIP4	Calcium- and integrin-binding protein 4	CIB4	130106	ENSG00000157884			Cib4 (MGI:1920509)
chr2	26692722	26733420	2p23	2p23.3	603220	KCNK3, TASK, PPH4	Potassium channel, subfamily K, member 3	KCNK3	3777	ENSG00000171303		Pulmonary hypertension, primary, 4, 615344 (3), Autosomal dominant	Kcnk3 (MGI:1100509)
chr2	26764284	26781231	2p23.3	2p23.3	619667	SLC35F6, ANT2BP, C2orf18	Solute carrier family 35, member F6	SLC35F6	54978	ENSG00000213699			Slc35f6 (MGI:1922169)
chr2	26786056	26794589	2p24-p21	2p23.3	117139	CENPA	Centromere protein A, 17kD	CENPA	1058	ENSG00000115163			Cenpa (MGI:88375)
chr2	26847995	26950351	2p23.3	2p23.3	608383	DPYSL5, CRMP5, CRAM, RTSC4	Dihydropyrimidinase-like 5	DPYSL5	56896	ENSG00000157851		Ritscher-Schinzel syndrome 4, 619435 (3), Autosomal dominant	Dpysl5 (MGI:1929772)
chr2	26970637	27027219	2p23.3-p23.1	2p23.3	605788	MAPRE3, EB3, RP3, EBF3	Microtubule-associated protein, RP/EB family, member 3	MAPRE3	22924	ENSG00000084764			Mapre3 (MGI:2140967)
chr2	27032965	27041694	2p23.3	2p23.3	615301	TMEM214	Transmembrane protein 214	TMEM214	54867	ENSG00000119777			Tmem214 (MGI:1916046)
chr2	27050364	27070618	2p23.3	2p23.3	615900	AGBL5, CCP5, RP75	AATP/GTP-binding protein-like 5	AGBL5	60509	ENSG00000084693		Retinitis pigmentosa 75, 617023 (3), Autosomal recessive	Agbl5 (MGI:2441745)
chr2	27070472	27071654	2p23.3	2p23.3	618932	OST4	Oligosaccharyltransferase complex, noncatalytic subunit 4	OST4	100128731	ENSG00000228474			Ost4 (MGI:1914945)
chr2	27078615	27086403	2p23.3-p23.2	2p23.3	130660	EMILIN1, EMILIN, HMND10, ATBFS	Elastin microfibril interfacer 1	EMILIN1	11117	ENSG00000138080		Neuronopathy, distal hereditary motor, autosomal dominant 10, 620080 (3), Autosomal dominant; Arterial tortuosity-bone fragility syndrome, 620908 (3), Autosomal recessive	Emilin1 (MGI:1926189)
chr2	27086772	27100762	2p23.3-p23.2	2p23.3	614058	KHK, FRUCTU	Ketohexokinase (fructokinase)	KHK	3795	ENSG00000138030	mutation identified in 1 FRUCTU family	?[Fructosuria, essential], 229800 (3), Autosomal recessive	Khk (MGI:1096353)
chr2	27099353	27119128	2p23.3	2p23.3	606137	CGREF1, CGR11	Cell growth regulator with EF-hand domain 1	CGREF1	10669	ENSG00000138028			Cgref1 (MGI:1915817)
chr2	27123815	27130812	2p23.3	2p23.3	612195	ABHD1, LABH1	Abhydrolase domain-containing 1	ABHD1	84696	ENSG00000143994			Abhd1 (MGI:1931013)
chr2	27130756	27134636	2p23	2p23.3	606395	PREB	Prolactin regulatory element-binding protein	PREB	10113	ENSG00000138073			Preb (MGI:1355326)
chr2	27149004	27156974	2p24-p23	2p23.3	609635	TCF23	Transcription factor 23	TCF23	150921	ENSG00000163792			Tcf23 (MGI:1934960)
chr2	27199587	27212787	2p23.3	2p23.3	604024	SLC5A6, SMVT, NERIB, SMVTD, COMNB	Solute carrier family 5 (sodium dependent vitamin transporter), member 6	SLC5A6	8884	ENSG00000138074		Sodium-dependent multivitamin transporter deficiency, 618973 (3), Autosomal recessive; Peripheral motor neuropathy, childhood-onset, biotin-responsive, 619903 (3), Autosomal recessive	Slc5a6 (MGI:2660847)
chr2	27212041	27217183	2p23.3	2p23.3	619682	ATRAID, APR3	All-trans retinoic acid-induced differentiation factor	ATRAID	51374	ENSG00000138085			Atraid (MGI:1918918)
chr2	27217369	27243943	2p21	2p23.3	114010	CAD, CDG1Z, DEE50	CAD trifunctional protein of pyrimidine biosynthesis	CAD	790	ENSG00000084774		Developmental and epileptic encephalopathy 50, 616457 (3), Autosomal recessive	Cad (MGI:1916969)
chr2	27253684	27275817	2p23.3	2p23.3	602878	SLC30A3, ZNT3	Solute carrier family 30 (zinc transporter), member 3	SLC30A3	7781	ENSG00000115194			Slc30a3 (MGI:1345280)
chr2	27275433	27281499	2p23.3	2p23.3	613946	DNAJC5G	DNAJ/HSP40 homolog, subfamily C, member 5, gamma	DNAJC5G	285126	ENSG00000163793			Dnajc5g (MGI:3045263)
chr2	27282429	27307435	2p23.3	2p23.3	606474	TRIM54, RNF30, MURF3	Tripartite motif containing 54	TRIM54	57159	ENSG00000138100			Trim54 (MGI:1889623)
chr2	27307400	27308445	2p23-p21	2p23.3	600945	UCN, UROC	Urocortin	UCN	7349	ENSG00000163794			Ucn (MGI:1276123)
chr2	27309492	27323097	2p23-p21	2p23.3	137960	MPV17, MTDPS6, CMT2EE	Mitochondrial inner membrane protein MPV17	MPV17	4358	ENSG00000115204		Charcot-Marie-Tooth disease, axonal, type 2EE, 618400 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3), Autosomal recessive	Mpv17 (MGI:97138)
chr2	27325854	27356764	2p23.3	2p23.3	604883	GTF3C2	General transcription factor 3C, polypeptide 2	GTF3C2	2976	ENSG00000115207			Gtf3c2 (MGI:1919002)
chr2	27364352	27370338	2p23.3	2p23.3	606687	EIF2B4, VWM4	Eukaryotic translation initiation factor 2B, subunit 4	EIF2B4	8890	ENSG00000115211		Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure, 620314 (3), Autosomal recessive	Eif2b4 (MGI:95300)
chr2	27370616	27377535	2p23.3	2p23.3	605963	SNX17	Sorting nexin 17	SNX17	9784	ENSG00000115234			Snx17 (MGI:2387801)
chr2	27377235	27380734	2p24.1-p22.3	2p23.3	613598	ZNF513, RP58	Zinc finger protein 513	ZNF513	130557	ENSG00000163795	mutation identified in 1 RP58 family	?Retinitis pigmentosa 58, 613617 (3), Autosomal recessive	Zfp513 (MGI:2141255)
chr2	27381199	27409591	2p23.3	2p23.3	605119	PPM1G, PP2CG	Protein phosphatase, magnesium/manganese-dependent, 1G	PPM1G	5496	ENSG00000115241			Ppm1g (MGI:106065)
chr2	27427790	27442259	2p23	2p23.3	606010	NRBP	Nuclear receptor-binding protein	NRBP1	29959	ENSG00000115216			Nrbp1 (MGI:2183436)
chr2	27442381	27446481	2p23.3	2p23.3	619261	KRTCAP3, KCP3	Keratinocyte-associated protein 3	KRTCAP3	200634	ENSG00000157992			Krtcap3 (MGI:1917065)
chr2	27444377	27489743	2p23.3	2p23.3	607386	IFT172, SLB, KIAA1179, SRTD10, RP71, BBS20	Intraflagellar transport 172	IFT172	26160	ENSG00000138002		Retinitis pigmentosa 71, 616394 (3), Autosomal recessive; Bardet-Biedl syndrome 20, 619471 (3), Autosomal recessive; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3), Autosomal recessive	Ift172 (MGI:2682064)
chr2	27491883	27495200	2p23.3	2p23.3	611905	FNDC4, FRCP1	Fibronectin type III domain-containing protein 4	FNDC4	64838	ENSG00000115226			Fndc4 (MGI:1917195)
chr2	27496839	27523684	2p23.3-p23.2	2p23.3	600842	GCKR, GKRP, FGQTL5	Glucokinase (hexokinase 4) regulatory protein	GCKR	2646	ENSG00000084734		[Fasting plasma glucose level QTL 5], 613463 (3)	Gckr (MGI:1096345)
chr2	27583042	27623217	2p23.3	2p23.3	620921	ZNF512	Zinc finger protein 512	ZNF512	84450	ENSG00000243943			Zfp512 (MGI:1917345)
chr2	27628247	27651511	2p23.3	2p23.3	611479	XAB1, MBDIN	XPA-binding protein	GPN1	11321	ENSG00000198522			Gpn1 (MGI:1921504)
chr2	27642568	27663614	2p25	2p23.3	612762	SUPT7L, SUPT7H, SPT7l, KIAA0764, STAF65G	SPTY7-like, STAGA complex subunit gamma	SUPT7L	9913	ENSG00000119760			Supt7l (MGI:1919445)
chr2	27663889	27694969	2p23.3-p23.2	2p23.3	602655	SLC4A1AP	Solute carrier family 4 (anion exchanger), member 1, adaptor protein	SLC4A1AP	22950	ENSG00000163798			Slc4a1ap (MGI:1196608)
chr2	27771719	27779733	2p22	2p23.2	610059	MRPL33	Mitochondrial ribosomal protein L33	MRPL33	9553	ENSG00000243147			Mrpl33 (MGI:2137225)
chr2	27781379	27890387	2p23.2	2p23.2	611132	RBKS	Ribokinase	RBKS	64080	ENSG00000171174			Rbks (MGI:1918586)
chr2	27888709	28338901	2p23.2	2p23.2	610497	BABAM2, BRE, BRCC4, BRCC45	BRISC and BRCA1 A complex member 2	BABAM2	9577	ENSG00000158019			Babam2 (MGI:1333875)
chr2	28392858	28417317	2p23.2	2p23.2	601575	FOSL2, ACED	FOS-like 2, AP-1 transcription factor subunit	FOSL2	2355	ENSG00000075426		Aplasia cutis-enamel dysplasia syndrome, 620789 (3), Autosomal dominant	Fosl2 (MGI:102858)
chr2	28496060	28644142	2p23.2	2p23.2	610179	PLB1, PLB, FLJ30866	Phospholipase B1	PLB1	151056	ENSG00000163803			Plb1 (MGI:1922406)
chr2	28751604	28802940	2p23	2p23.2	600590	PPP1CB, NSLH2	Protein phosphatase-1, catalytic subunit, beta isoform	PPP1CB	5500	ENSG00000213639		Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3), Autosomal dominant	Ppp1cb (MGI:104871)
chr2	28810834	28850610	2p23.2	2p23.2	614029	SPDYA, SPY1, RINGOA	Speedy/RINGO cell cycle regulator family, member A	SPDYA	245711	ENSG00000163806			Spdya (MGI:1918141)
chr2	28849821	28870309	2p23.2	2p23.2	619404	TRMT61B	tRNA methyltransferase 61B	TRMT61B	55006	ENSG00000171103			
chr2	28894667	28948219	2p23.2	2p23.2	616195	WDR43, UTP5, KIAA0007	WD repeat-containing protein 43	WDR43	23160	ENSG00000163811			Wdr43 (MGI:1919765)
chr2	28956518	29052230	2p23.2	2p23.2	620949	TOGARAM2, FAM179A	TOG array regulator of axonemal microtubules 2	TOGARAM2	165186	ENSG00000189350			Togaram2 (MGI:2443498)
chr2	29061695	29074523	2p23.2	2p23.2	613425	PCARE, C2orf71, RP54	Photoreceptor cilium actin regulator	PCARE	388939	ENSG00000179270		Retinitis pigmentosa 54, 613428 (3), Autosomal recessive	Pcare (MGI:2385061)
chr2	29192774	29921586	2p23	2p23.2-p23.1	105590	ALK, NBLST3	ALK receptor tyrosine kinase	ALK	238	ENSG00000171094		{Neuroblastoma, susceptibility to, 3}, 613014 (3)	Alk (MGI:103305)
chr2	30147007	30160533	2p23.1	2p23.1	609726	YPEL5	Yippee-like 5	YPEL5	51646	ENSG00000119801			Ypel5 (MGI:1916937)
chr2	30231534	30260028	2p23.1	2p23.1	611763	LBH	LBH regulator of WNT signaling pathway	LBH	81606	ENSG00000213626			Lbh (MGI:1925139)
chr2	30447246	30644225	2p23.1	2p23.1	614241	LCLAT1, ALCAT1, AGPAT8	Lysocardiolipin acyltransferase 1	LCLAT1	253558	ENSG00000172954			Lclat1 (MGI:2684937)
chr2	30722771	30807446	2p23.1	2p23.1	610228	CAPN13, FLJ23523	Calpain 13	CAPN13	92291	ENSG00000162949			Capn13 (MGI:2685789)
chr2	30886782	31138440	2p23.2	2p23.1	608225	GALNT14	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14	GALNT14	79623	ENSG00000158089			Galnt14 (MGI:1918935)
chr2	31173056	31233957	2p23.1	2p23.1	610229	CAPN14	Calpain 14	CAPN14	440854	ENSG00000214711			
chr2	31234152	31269451	2p21	2p23.1	605891	EHD3	EH domain-containing 3	EHD3	30845	ENSG00000013016			Ehd3 (MGI:1928900)
chr2	31334321	31414742	2p23-p22	2p23.1	607633	XDH, XAN1	Xanthine dehydrogenase (xanthine oxidase)	XDH	7498	ENSG00000158125		Xanthinuria, type I, 278300 (3), Autosomal recessive	Xdh (MGI:98973)
chr2	31522480	31663009	2p23	2p23.1	607306	SRD5A2	Steroid-5-alpha-reductase, alpha polypeptide-2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha-2)	SRD5A2	6716	ENSG00000277893		Pseudovaginal perineoscrotal hypospadias, 264600 (3), Autosomal recessive	Srd5a2 (MGI:2150380)
chr2	31800001	47500000	2p22.3-p21		114580	CANDF1, CMCT	Candidiasis, familial, 1		117084		between D2S367 and D2S2240	Candidiasis, familial, 1, autosomal dominant, 114580 (2), Autosomal dominant	
chr2	31867823	32011008	2p22-p21	2p22.3	611786	MEMO1, MEMO, C2orf4	Mediator of cell motility 1	MEMO1	51072	ENSG00000162959			Memo1 (MGI:1924140)
chr2	32011649	32039835	2p22.3	2p22.3	612032	DPY30	DPY30 histone methyltransferase complex regulatory subunit	DPY30	84661	ENSG00000162961			Dpy30 (MGI:1913560)
chr2	32063556	32157637	2p22-p21	2p22.3	604277	SPAST, SPG4	Spastin	SPAST	6683	ENSG00000021574		Spastic paraplegia 4, autosomal dominant, 182601 (3), Autosomal dominant	Spast (MGI:1858896)
chr2	32165864	32224379	2p22-p21	2p22.3	611148	SLC30A6, ZNT6	Solute carrier family 30 (zinc transporter), member 6	SLC30A6	55676	ENSG00000152683			Slc30a6 (MGI:2386741)
chr2	32224449	32265743	2p22.3	2p22.3	606831	NLRC4, CARD12, CLAN, IPAF, AIFEC, FCAS4	NLR family, caspase recruitment domain-containing 4	NLRC4	58484	ENSG00000091106	mutation identified in 1 FCAS4 family	?Familial cold autoinflammatory syndrome 4, 616115 (3), Autosomal dominant; Autoinflammation with infantile enterocolitis, 616050 (3), Autosomal dominant	Nlrc4 (MGI:3036243)
chr2	32277904	32316594	2p22.3	2p22.3	617534	YIPF4	Yip1 domain family, member 4	YIPF4	84272	ENSG00000119820			Yipf4 (MGI:1915114)
chr2	32357023	32618878	2p22-p21	2p22.3	605638	BIRC6, KIAA1289	Baculoviral IAP repeat-containing protein-6	BIRC6	57448	ENSG00000115760			Birc6 (MGI:1276108)
chr2	32532153	32532246	2p22.3	2p22.3	616473	MIR558	Micro RNA 558	MIR558	693143	ENSG00000207653	BIRC6 is host gene		
chr2	32946953	33399509	2p12-q22	2p22.3	150390	LTBP1, ARCL2E	Latent transforming growth factor beta binding protein 1	LTBP1	4052	ENSG00000049323		Cutis laxa, autosomal recessive, type IIE, 619451 (3), Autosomal recessive	Ltbp1 (MGI:109151)
chr2	33436348	33564731	2p22.3	2p22.3	609531	RASGRP3, KIAA0846	Ras guanyl nucleotide-releasing protein 3	RASGRP3	25780	ENSG00000152689			Rasgrp3 (MGI:3028579)
chr2	33583660	33599299	2p22.3	2p22.3	620904	FAM98A	Family with sequence similarity 98, member A	FAM98A	25940	ENSG00000119812			Fam98a (MGI:1919972)
chr2	36300001	38300000	2p22.2		602499	MACOM	Macrophthalmia, colobomatous, with microcornea					Macrophthalmia, colobomatous, with microcornea, 602499 (4), Autosomal dominant	
chr2	36355778	36551135	2p22-p21	2p22.2	606189	CRIM1	Cysteine-rich motor neuron protein 1	CRIM1	51232	ENSG00000150938			Crim1 (MGI:1354756)
chr2	36552258	36598168	2p22.2	2p22.2	604826	FEZ2	Fasciculation and elongation protein zeta 2	FEZ2	9637	ENSG00000171055			Fez2 (MGI:2675856)
chr2	36696707	36814794	2p22.2	2p22.2	617693	VIT, VIT1	Vitrin	VIT	5212	ENSG00000205221			Vit (MGI:1921449)
chr2	36837698	36966536	2p22	2p22.2	614765	STRN	Striatin, calmodulin-binding protein	STRN	6801	ENSG00000115808			Strn (MGI:1333757)
chr2	36980895	37084372	2p22.2	2p22.2	619627	HEATR5B	HEAT repeat-containing protein 5B	HEATR5B	54497	ENSG00000008869			Heatr5b (MGI:2444098)
chr2	37099210	37156980	2p21	2p22.2	176871	EIF2AK2, PRKR, LEUDEN, DYT33	Eurkaryotic translation initiation factor 2-alpha kinase 2	EIF2AK2	5610	ENSG00000055332	mutation identified in 1 DYT33 patient	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 (3), Autosomal dominant; Dystonia 33, 619687 (3), Autosomal recessive, Autosomal dominant	Eif2ak2 (MGI:1353449)
chr2	37167820	37196087	2p22.3	2p22.2	617152	SULT6B1	Sulfotransferase family 6B, member 1	SULT6B1	391365	ENSG00000138068			Sult6b1 (MGI:1920921)
chr2	37201612	37231596	2p22.2	2p22.2	612828	CEBPZ, CBF, NOC1	CCAAT/enhancer-binding protein, zeta	CEBPZ	10153	ENSG00000115816			Cebpz (MGI:109386)
chr2	37231658	37271365	2p22.2	2p22.2	615898	NDUFAF7, MIDA	NADH-ubiquinone oxidoreductase complex assembly factor 7	NDUFAF7	55471	ENSG00000003509			Ndufaf7 (MGI:1920944)
chr2	37250502	37324833	2p21	2p22.2	607077	PRKCN	Protein kinase C, nu	PRKD3	23683	ENSG00000115825			Prkd3 (MGI:1922542)
chr2	37344630	37373322	2p22.2	2p22.2	607065	QPCT, QC	Glutaminyl-peptide cyclotransferase	QPCT	25797	ENSG00000115828			Qpct (MGI:1917786)
chr2	37641944	37672949	2p21	2p22.2	606133	CDC42EP3, CEP3, BORG2	CDC42 effector protein 3	CDC42EP3	10602	ENSG00000163171			Cdc42ep3 (MGI:2384718)
chr2	37920901	38067138	2p22.2	2p22.2	611872	RMDN1, FAM82A1, FAM82A, RMD2	Regulator of microtubule dynamics 2	RMDN2	151393	ENSG00000115841			Rmdn2 (MGI:2147043)
chr2	38067509	38076151	2p22-p21	2p22.2	601771	CYP1B1, GLC3A, ASGD6	Cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1	CYP1B1	1545	ENSG00000138061		Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3), Autosomal recessive; Anterior segment dysgenesis 6, multiple subtypes, 617315 (3), Autosomal recessive	Cyp1b1 (MGI:88590)
chr2	38293954	38378584	2p22.3	2p22.2-p22.1	609368	ATL2, ARL3IP2	Atlastin GTPase 2	ATL2	64225	ENSG00000119787			Atl2 (MGI:1929492)
chr2	38300001	47500000	2p22.1-p21		614227	HNFJ3	Hyperuricemic nephropathy, familial juvenile, 3		100689490		between rs372139 and rs896986	Hyperuricemic nephropathy, familial juvenile, 3, 614227 (2), Autosomal dominant	
chr2	38561969	38602928	2p22	2p22.1	611208	HNRNPLL, HNRPLL, SRRF	Heterogeneous nuclear ribonucleoprotein L-like	HNRNPLL	92906	ENSG00000143889			Hnrnpll (MGI:1919942)
chr2	38666114	38734765	2p22-p11	2p22.1	137030	GALM, GLAT, GALAC4	Galactose mutarotase	GALM	130589	ENSG00000143891		Galactosemia IV, 618881 (3), Autosomal recessive	Galm (MGI:2442420)
chr2	38743599	38751494	2p22-p21	2p22.1	600572	SRSF7, SFRS7	Splicing factor, arginine/serine-rich 7, 35kD	SRSF7	6432	ENSG00000115875			Srsf7 (MGI:1926232)
chr2	38778210	38785002	2p22.1	2p22.1	607006	GEMIN6	GEM-associated protein 6	GEMIN6	79833	ENSG00000152147			Gemin6,Gemin6-ps (MGI:1914492,MGI:3645567)
chr2	38981549	39124868	2p22-p21	2p22.1	182530	SOS1, GINGF, GF1, HGF, NS4	SOS Ras/Rac guanine nucleotide exchange factor 1	SOS1	6654	ENSG00000115904		Noonan syndrome 4, 610733 (3), Autosomal dominant; Fibromatosis, gingival, 1, 135300 (3), Autosomal dominant	Sos1 (MGI:98354)
chr2	39249266	39437285	2p22.1	2p22.1	604921	MAP4K3, GLK	Mitogen-activated protein kinase kinase kinase kinase 3	MAP4K3	8491	ENSG00000011566			Map4k3 (MGI:2154405)
chr2	39736060	39779276	2p22-p21	2p22.1	611751	THUMPD2, C2orf8	THUMP domain-containing 2	THUMPD2	80745	ENSG00000138050			Thumpd2 (MGI:1919417)
chr2	40097270	40512435	2p23-p22	2p22.1	182305	SLC8A1, NCX1	Solute carrier family 8, member 1 (sodium-calcium exchanger-1)	SLC8A1	6546	ENSG00000183023			Slc8a1 (MGI:107956)
chr2	41500001	47500000	2p21		606407	DEL2p21, C2DELp21	Homozygous 2p21 deletion syndrome				contiguous gene syndrome disrupting SLC3A1 and PREPL genes	Hypotonia-cystinuria syndrome, 606407 (4), Autosomal recessive	
chr2	41500001	83100000	2p21-p12		615654	DFNA58	Deafness, autosomal dominant 58				duplication of 200kb	Deafness, autosomal dominant 58, 615654 (4), Autosomal dominant	
chr2	41500001	47500000	2p21		601694	LEPQTL1, LSL	Leptin serum levels quantitative trait locus 1		7839			[Leptin serum levels QTL1], 601694 (2)	
chr2	42048021	42058517	2p21	2p21	614150	PKDCC, VLK, SGK493, RLSDF	Protein kinase domain-containing, cytoplasmic	PKDCC	91461	ENSG00000162878		Rhizomelic limb shortening with dysmorphic features, 618821 (3), Autosomal recessive	Pkdcc (MGI:2147077)
chr2	42169353	42332548	2p22-p21	2p21	607442	EML4, ROPP120	Echinoderm microtubule associated protein like-4	EML4	27436	ENSG00000143924			Eml4 (MGI:1926048)
chr2	42335559	42368957	2p21	2p21	605771	COX7A2L, COX7RP, EB1	Cytochrome c oxidase subunit VIIA, polypeptide 2-like	COX7A2L	9167	ENSG00000115944			Cox7a2l (MGI:106015)
chr2	42388352	42493982	2p21	2p21	606767	KCNG3, KV6.3	Potassium voltage-gated channel, subfamily G, member 3	KCNG3	170850	ENSG00000171126			Kcng3 (MGI:2663923)
chr2	42494110	42756946	2p21	2p21	609050	MTA3, KIAA1266	Mtastasis-associated 1 family member 3	MTA3	57504	ENSG00000057935			Mta3 (MGI:2151172)
chr2	42762499	42764135	2p21	2p21	620064	OXER1, TG1019	Oxoeicosanoid receptor 1	OXER1	165140	ENSG00000162881			
chr2	42767089	42792583	2p21	2p21	604521	HAAO, VCRL1	3-hydroxyanthranilate 3,4-dioxygenase	HAAO	23498	ENSG00000162882		Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3), Autosomal recessive	Haao (MGI:1349444)
chr2	43222402	43226606	2p21	2p21	612053	ZFP36L2, ERF2, TIS11D, OZEMA13	Zinc finger protein 36-like 2	ZFP36L2	678	ENSG00000152518		Oocyte/zygote/embryo maturation arrest 13, 620154 (3), Autosomal recessive	Zfp36l2 (MGI:107945)
chr2	43230851	43596038	2p21	2p21	611800	THADA, KIAA1767	THADA armadillo repeat containing	THADA	63892	ENSG00000115970			Thada (MGI:3039623)
chr2	43637260	43767987	2p21	2p21	612723	PLEKHH2	Pleckstrin homology domain-containing protein, family H, member 2	PLEKHH2	130271	ENSG00000152527			Plekhh2 (MGI:2146813)
chr2	43774039	43828347	2p25.1-p24.1	2p21	617083	DYNC2LI1, D2LIC, LIC3, SRTD15	Dynein, cytoplasmic 2, light intermediate chain 1	DYNC2LI1	51626	ENSG00000138036		Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive	Dync2li1 (MGI:1913996)
chr2	43806211	43839231	2p21	2p21	605459	ABCG5, STSL2	ATP-binding cassette, subfamily G, member 5	ABCG5	64240	ENSG00000138075		Sitosterolemia 2, 618666 (3), Autosomal recessive	Abcg5 (MGI:1351659)
chr2	43838971	43882988	2p21	2p21	605460	ABCG8, GBD4, STSL1	ATP-binding cassette, subfamily G, member 8	ABCG8	64241	ENSG00000143921		Sitosterolemia 1, 210250 (3), Autosomal recessive; {Gallbladder disease 4}, 611465 (3)	Abcg8 (MGI:1914720)
chr2	43886224	43996265	2p21	2p21	607544	LRPPRC, LRP130, LSFC, MC4DN5	Leucine-rich PPR motif-containing protein	LRPPRC	10128	ENSG00000138095		Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), 220111 (3), Autosomal recessive	Lrpprc (MGI:1919666)
chr2	44168875	44246928	2p21	2p21	603770	PPM1B	Protein phosphatase, magnesium-dependent, 1, beta isoform	PPM1B	5495	ENSG00000138032	formerly PP2CB		Ppm1b (MGI:101841)
chr2	44275480	44322437	2p16.3	2p21	104614	SLC3A1, ATR1, D2H, NBAT	Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1	SLC3A1	6519	ENSG00000138079		Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant	Slc3a1 (MGI:1195264)
chr2	44317607	44361862	2p21	2p21	609557	PREPL, KIAA0436, CMS22	Prolyl endopeptidase-like	PREPL	9581	ENSG00000138078		Myasthenic syndrome, congenital, 22, 616224 (3), Autosomal recessive	Prepl (MGI:2441932)
chr2	44361947	44772592	2p21	2p21	609559	CAMKMT, C2orf34	Calmodulin lysine N-methyltransferase	CAMKMT	79823	ENSG00000143919			Camkmt (MGI:1920832)
chr2	44941702	44946071	2p21	2p21	603714	SIX3, HPE2	SIX homeobox 3	SIX3	6496	ENSG00000138083		Schizencephaly, 269160 (3); Holoprosencephaly 2, 157170 (3), Autosomal dominant	Six3 (MGI:102764)
chr2	45005182	45009452	2p16-p15	2p21	604994	SIX2	SIX homeobox 2	SIX2	10736	ENSG00000170577			Six2 (MGI:102778)
chr2	45651279	46187990	2p21	2p21	176975	PRKCE, PKCE	Protein kinase C, epsilon	PRKCE	5581	ENSG00000171132			Prkce (MGI:97599)
chr2	46297407	46386697	2p21-p16	2p21	603349	EPAS1, MOP2, HIF2A, ECYT4	Endothelial PAS domain protein 1	EPAS1	2034	ENSG00000116016		Erythrocytosis, familial, 4, 611783 (3), Autosomal dominant	Epas1 (MGI:109169)
chr2	46511847	46542577	2p21	2p21	617385	ATP6V1E2, ATP6E1	ATPase, H+ transporting, V1 subunit E1	ATP6V1E2	90423	ENSG00000250565			Atp6v1e2 (MGI:1922165)
chr2	46542490	46584688	2p21	2p21	605857	RHOQ, ARHQ, TC10	Ras-homolog gene family, member Q	RHOQ	23433	ENSG00000119729			Rhoq (MGI:1931553)
chr2	46580937	46617041	2p21-p16	2p21	600153	PIGF, OORS	Phosphatidylinositol glycan, class F	PIGF	5281	ENSG00000151665	pseudogene on 5	Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, 619356 (3), Autosomal recessive	Pigf (MGI:99462)
chr2	46617215	46630176	2p21	2p21	604594	CRIPT, RTS3	Cystine-rich PDZ binding protein	CRIPT	9419	ENSG00000119878		Rothmund-Thomson syndrome, type 3, 615789 (3), Autosomal recessive	Cript (MGI:1929655)
chr2	46698937	46763129	2p21	2p21	607094	SOCS5, CIS6, KIAA0671	Suppressor of cytokine signaling 5	SOCS5	9655	ENSG00000171150	also signals at 3p22		Socs5 (MGI:2385459)
chr2	46901870	46941855	2p21-p16.3	2p21	607788	MCFD2, F5F8D2	Multiple coagulation factor deficiency protein 2	MCFD2	90411	ENSG00000180398		Factor V and factor VIII, combined deficiency of, 613625 (3)	Mcfd2 (MGI:2183439)
chr2	46915866	47076123	2p21	2p21	609332	TTC7A, TTC7, KIAA1140, MINAT, GIDID	Tetratricopeptide repeat domain 7A	TTC7A	57217	ENSG00000068724		Gastrointestinal defects and immunodeficiency syndrome, 243150 (3), Autosomal recessive	Ttc7 (MGI:1920999)
chr2	47160082	47176936	2p21	2p21	114182	CALM2, LQT15	Calmodulin-2	CALM2	805	ENSG00000143933		Long QT syndrome 15, 616249 (3), Autosomal dominant	Calm2 (MGI:103250)
chr2	47335315	47335514	2p21	2p21	606089	BCYRN1, BC200	Brain cytoplasmic RNA 1	BCYRN1	618	ENSG00000236824			
chr2	47369311	47387020	2p21	2p21	185535	EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, LYNCH8	Epithelial cellular adhesion molecule	EPCAM	4072	ENSG00000119888	previously assigned to 4q	Diarrhea 5, with tufting enteropathy, congenital, 613217 (3), Autosomal recessive; Lynch syndrome 8, 613244 (3), Autosomal dominant	Epcam (MGI:106653)
chr2	47403067	47709830	2p22-p21	2p21-p16.3	609309	MSH2, COCA1, FCC1, LYNCH1, MMRCS2	mutS homolog 2	MSH2	4436	ENSG00000095002		Lynch syndrome 1, 120435 (3), Autosomal dominant; Muir-Torre syndrome, 158320 (3), Autosomal dominant; Mismatch repair cancer syndrome 2, 619096 (3), Autosomal recessive	Msh2 (MGI:101816)
chr2	47500001	61000000	2p16		609958	ASRT3	Asthma-related traits, susceptibility to, 3		100188801		max lod at rs2063871	{Asthma-related traits, susceptibility to, 3}, 609958 (2)	
chr2	47500001	61000000	2p16		605244	CNC2	Carney complex, type II		1257			Carney complex, type II, 605244 (2)	
chr2	47500001	63900000	2p16-p15		604254	DYX3	Dyslexia, susceptibility to, 3		11192			{Dyslexia, susceptibility to, 3}, 604254 (2)	
chr2	47500001	61000000	2p16		613549	STQTL24	Stature quantitative trait locus 24		100529223		linked to rs1520446	{Stature QTL 24}, 613549 (2)	
chr2	47509290	47570985	2p22-p21	2p16.3	607366	KCNK12, THIK2	Potassium channel, subfamily K, member 12	KCNK12	56660	ENSG00000184261			Kcnk12 (MGI:2684043)
chr2	47783145	47810101	2p16	2p16.3	600678	MSH6, GTBP, LYNCH5, MMRCS3	mutS homolog 6	MSH6	2956	ENSG00000116062	0.5 Mb from MSH2	Lynch syndrome 5, 614350 (3), Autosomal dominant; Mismatch repair cancer syndrome 3, 619097 (3), Autosomal recessive; {Endometrial cancer, familial}, 608089 (3), Somatic mutation, Autosomal dominant	Msh6 (MGI:1343961)
chr2	47806920	47906498	2p21	2p16.3	607871	FBXO11, FBX11, VIT1, PRMT9, IDDFBA	F-box only protein 11	FBXO11	80204	ENSG00000138081	?2p16	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 (3), Autosomal dominant	Fbxo11 (MGI:2147134)
chr2	48313659	48379295	2p16.3	2p16.3	143089	FOXN2, HTLF	Forkhead box N2	FOXN2	3344	ENSG00000170802			Foxn2 (MGI:1347478)
chr2	48440766	48515386	2p16.3	2p16.3	618159	PPP1R21, CCDC128, KLRAQ1, NEDHFBA	Protein phosphatase 1, regulatory subunit 21	PPP1R21	129285	ENSG00000162869		Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, 619383 (3), Autosomal recessive	Ppp1r21 (MGI:1921075)
chr2	48530154	48598513	2p16.3	2p16.3	605357	STON1, STN1, SBLF, SALF	Stonin 1	STON1	11037	ENSG00000243244			Ston1 (MGI:1924307)
chr2	48617856	48679604	2p16.3	2p16.3	605358	GTF2A1L, ALF	General transcription factor IIA, 1-like	GTF2A1L	11036	ENSG00000242441			Gtf2a1l (MGI:1919078)
chr2	48686774	48755724	2p21	2p16.3	152790	LHCGR, LHR, LCGR	Luteinizing hormone/choriogonadotropin receptor	LHCGR	3973	ENSG00000138039		Leydig cell adenoma, somatic, with precocious puberty, 176410 (3); Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3), Autosomal recessive; Luteinizing hormone resistance, female, 238320 (3), Autosomal recessive; Precocious puberty, male, 176410 (3), Autosomal dominant	Lhcgr (MGI:96783)
chr2	48962157	49154515	2p21-p16	2p16.3	136435	FSHR, ODG1	Follicle stimulating hormone receptor	FSHR	2492	ENSG00000170820		Ovarian hyperstimulation syndrome, 608115 (3), Autosomal dominant; Ovarian dysgenesis 1, 233300 (3), Autosomal recessive	Fshr (MGI:95583)
chr2	49918503	51032132	2p16.3	2p16.3	600565	NRXN1, PTHSL2, SCZD17	Neurexin 1	NRXN1	9378	ENSG00000179915		Pitt-Hopkins-like syndrome 2, 614325 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 17}, 614332 (3)	Nrxn1 (MGI:1096391)
chr2	53669980	53786953	2p16.2	2p16.2	605760	ASB3	Ankyrin repeat-containing SOCS box protein 3	ASB3	51130	ENSG00000115239			Asb3 (MGI:1929749)
chr2	53767783	53775196	2p16.2	2p16.2	617446	CHAC2	CHAC cation transport regulator homolog 2	CHAC2	494143	ENSG00000143942			Chac2 (MGI:1915294)
chr2	53787044	53818796	2p16.2	2p16.2	611229	ERLEC1, C2orf30	Erlectin (endoplasmic reticulum lectin 1)	ERLEC1	27248	ENSG00000068912			Erlec1 (MGI:1914003)
chr2	53852912	53859967	2p16	2p16.2	606704	GPR75	G protein-coupled receptor 75	GPR75	10936	ENSG00000119737			Gpr75 (MGI:2441843)
chr2	53864069	53970993	2p16.2	2p16.2	607705	PSME4, PA200, KIAA0077	Proteasome activator subunit 4	PSME4	23198	ENSG00000068878			Psme4 (MGI:2143994)
chr2	53971113	54305300	2p16.2	2p16.2	102595	ACYP2, ACYP	Acylphosphatase 2, muscle type	ACYP2	98	ENSG00000170634			Acyp2 (MGI:1922822)
chr2	54456327	54671446	2p21	2p16.2	182790	SPTBN1, DDISBA	Spectrin, beta, nonerythrocytic-1 (beta-fodrin)	SPTBN1	6711	ENSG00000115306		Developmental delay, impaired speech, and behavioral abnormalities, 619475 (3), Autosomal dominant	Sptbn1 (MGI:98388)
chr2	54700001	63900000	2p16.1-p15		612513	DEL2p16.1-p15, C2DELp161-p15	Chromosome 2p16.1-p15 deletion syndrome				contiguous gene deletion syndrome	Chromosome 2p16.1-p15 deletion syndrome, 612513 (4), Isolated cases	
chr2	54700001	61000000	2p16.1		142335	HBFQTL5	Fetal hemoglobin quantitative trait locus 5		3247		associated with rs11886868	[Fetal hemoglobin QTL5], 142335 (2), Autosomal dominant	
chr2	54723552	54972025	2p16.1	2p16.1	621084	EML6	Echinoderm microtubule-associated protein-like 6	EML6	400954	ENSG00000214595			Eml6 (MGI:2442895)
chr2	54972189	55137831	2p14-p13	2p16.1	604475	RTN4, NOGO	Neurite outgrowth inhibitor (reticulon 4)	RTN4	57142	ENSG00000115310			Rtn4 (MGI:1915835)
chr2	55231903	55235853	2p16.1	2p16.1	191343	RPS27A, UBA80, HUBCEP80, CEP80, UBCEP1	Ribosomal protein S27a	RPS27A	6233	ENSG00000143947			Rps27a (MGI:1925544)
chr2	55236595	55269248	2p16-p14	2p16.1	603766	MTIF2	Mitochondrial translational initiation factor 2	MTIF2	4528	ENSG00000085760			Mtif2 (MGI:1924034)
chr2	55287842	55419856	2p16.1	2p16.1	609736	CCDC88A, KIAA1212, HKRP1, GIRDIN, APE, GIV, PEHOL	Coiled-coil domain-containing protein 88A	CCDC88A	55704	ENSG00000115355		PEHO syndrome-like, 617507 (3), Autosomal recessive	Ccdc88a (MGI:1925177)
chr2	55547292	55617622	2p16.1	2p16.1	610352	PPP4R3B, PP4R3B, SMEK2, KIAA1387	Protein phosphatase 4, regulatory subunit 3, beta	PPP4R3B	57223	ENSG00000275052			Ppp4r3b (MGI:2144474)
chr2	55634061	55693844	2p16.1	2p16.1	610316	PNPT1, OLD35, COXPD13, DFNB70, SCA25	Polyribonucleotide nucleotidyltransferase 1	PNPT1	87178	ENSG00000138035		Spinocerebellar ataxia 25, 608703 (3), Autosomal dominant; Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration, 614934 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 13, 614932 (3), Autosomal recessive	Pnpt1 (MGI:1918951)
chr2	55865967	55923782	2p16	2p16.1	601548	EFEMP1, FBNL, DHRD, GLC1H, ARCL1D	EGF-containing fibulin-like extracellular matrix protein 1 (fibrillin-like)	EFEMP1	2202	ENSG00000115380		Doyne honeycomb degeneration of retina, 126600 (3), Autosomal dominant; Cutis laxa, autosomal recessive, type ID, 620780 (3), Autosomal recessive; Glaucoma 1, open angle, H, 611276 (3), Autosomal dominant	Efemp1 (MGI:1339998)
chr2	55982967	55983076	2p16.1	2p16.1	615096	MIR217	Micro RNA 217	MIR217	406999	ENSG00000207548			Mir217 (MGI:2676893)
chr2	55988950	55989059	2p16.1	2p16.1	610944	MIR216, MIRN216	Micro RNA 216	MIR216A	406998	ENSG00000207798			Mir216a (MGI:2676892)
chr2	57907592	58159920	2p16-p15	2p16.1	602169	VRK2	VRK serine/threonine kinase 2	VRK2	7444	ENSG00000028116			Vrk2 (MGI:1917172)
chr2	58159243	58241380	2p16.1	2p16.1	608111	PHF9, FANCL	PHD finger protein 9	FANCL	55120	ENSG00000115392		Fanconi anemia, complementation group L, 614083 (3), Autosomal recessive	Fancl (MGI:1914280)
chr2	60450520	60553924	2p16.1	2p16.1	606557	BCL11A, CTIP1, EVI9, KIAA1809, DILOS	B-cell CLL/lymphoma 11A	BCL11A	53335	ENSG00000119866		Dias-Logan syndrome, 617101 (3), Autosomal dominant	Bcl11a (MGI:106190)
chr2	60756268	60802086	2p16.1	2p16.1	616865	PAPOLG	Poly(A) polymerase, gamma	PAPOLG	64895	ENSG00000115421			Papolg (MGI:2442119)
chr2	60881574	60931612	2p13-p12	2p16.1	164910	REL, IMD92	REL protooncogene, NF-kappa-B subunit	REL	5966	ENSG00000162924		Immunodeficiency 92, 619652 (3), Autosomal recessive	Rel (MGI:97897)
chr2	60940223	61018259	2p16.1	2p16.1-p15	612787	PUS10, DOBI	Pseudouridylate synthase 10	PUS10	150962	ENSG00000162927			Pus10 (MGI:1921717)
chr2	61017720	61051990	2p15	2p15	601789	PEX13, ZWS, NALD, PBD11A, PBD11B	Peroxisome biogenesis factor 13 (peroxin 13)	PEX13	5194	ENSG00000162928		Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3), Autosomal recessive; Peroxisome biogenesis disorder 11B, 614885 (3), Autosomal recessive	Pex13 (MGI:1919379)
chr2	61065871	61138032	2p15	2p15	620213	SANBR, KIAA1841	SANT and BTB domain regulator of CSR	SANBR	84542	ENSG00000162929			Sanbr (MGI:1918925)
chr2	61187463	61471087	2p15	2p15	615295	USP34, KIAA0570	Ubiquitin-specific protease 34	USP34	9736	ENSG00000115464			Usp34 (MGI:109473)
chr2	61477849	61538612	2p16	2p15	602559	XPO1, CRM1	Exportin-1 (required for chromosome region maintenance)	XPO1	7514	ENSG00000082898			Xpo1 (MGI:2144013)
chr2	61800240	61854060	2p15	2p15	613596	FAM161A, RP28	Family with sequence similarity 161, member A	FAM161A	84140	ENSG00000170264		Retinitis pigmentosa 28, 606068 (3), Autosomal recessive	Fam161a (MGI:1921123)
chr2	61868085	61888671	2p15	2p15	605142	CCT4, CCTD, SRB	Chaperonin containing T-complex polypeptide 1, subunit 4	CCT4	10575	ENSG00000115484			Cct4 (MGI:104689)
chr2	61888391	62136058	2p16-p13	2p15	607238	COMMD1, MURR1	Copper metabolism Murr1 domain-containing 1	COMMD1	150684	ENSG00000173163			Commd1 (MGI:109474)
chr2	62196115	62224731	2p15	2p15	605581	B3GNT2, B3GNT1, B3GNT	Beta-1,3-N-acetylglucosyaminyltransferase 2	B3GNT2	10678	ENSG00000170340			B3gnt2 (MGI:1889505)
chr2	62453531	62506195	2p15	2p15	614950	TMEM17	Transmembrane protein 17	TMEM17	200728	ENSG00000186889			Tmem17 (MGI:2144205)
chr2	62673878	63046487	2p15	2p15	609922	EHBP1, KIAA0903, HPC12	EH domain-binding protein 1	EHBP1	23301	ENSG00000115504		{Prostate cancer, hereditary, 12}, 611868 (3)	Ehbp1 (MGI:2667252)
chr2	63049735	63057831	2p13	2p15	600036	OTX1	Orthodenticle homeobox 1	OTX1	5013	ENSG00000115507			Otx1 (MGI:97450)
chr2	63119559	63840826	2p15	2p15	613580	WDPCP, C2orf86, BBS15, CHDTHP	WD repeat-containing planar cell polarity effector	WDPCP	51057	ENSG00000143951		Bardet-Biedl syndrome 15, 615992 (3), Autosomal recessive; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3), Autosomal recessive	Wdpcp (MGI:2144467)
chr2	63588963	63607197	2p16	2p15	154200	MDH1, DEE88, KAR	Malate dehydrogenase 1	MDH1	4190	ENSG00000014641	proximal to APOB; mutation identified in 1 DEE88 family	?Developmental and epileptic encephalopathy 88, 618959 (3), Autosomal recessive	Mdh1 (MGI:97051)
chr2	63840969	63891560	2p14-p13	2p15	191760	UGP2, UGPP2, DEE83	Uridyl diphosphate glucose pyrophosphorylase-2	UGP2	7360	ENSG00000169764		Developmental and epileptic encephalopathy 83, 618744 (3), Autosomal recessive	Ugp2 (MGI:2183447)
chr2	63892150	64019428	2p14	2p15-p14	614633	VPS54, VPS54L, WR	VPS54 subunit of GARP complex	VPS54	51542	ENSG00000143952			Vps54 (MGI:2178798)
chr2	63900001	71300000	2p14-p13.3		610071	HRPT3	Hyperparathyroidism 3		780919		between D2S2368 and D2S358	Hyperparathyroidism 3, 610071 (2)	
chr2	63900001	74800000	2p14-p13		612853	RLS7	Restless legs syndrome, susceptibility to, 7		100302561		associated with rs2300478	{Restless legs syndrome 7}, 612853 (2)	
chr2	64092652	64144420	2p13.3	2p14	614797	PELI1	Pellino E3 ubiquitin protein ligase 1	PELI1	57162	ENSG00000197329			Peli1 (MGI:1914495)
chr2	64454162	64461381	2p14	2p14	617902	LGALSL	Galectin-like protein	LGALSL	29094	ENSG00000119862			Lgalsl,Lgalsl2 (MGI:1916114,MGI:3643170)
chr2	64524328	64593005	2p14	2p14	619628	AFTPH	Aftiphilin	AFTPH	54812	ENSG00000119844			Aftph (MGI:1923012)
chr2	64631621	64653913	2p14	2p14	617851	SERTAD2, TRIPBR2, KIAA0127	SERTA domain-containing protein 2	SERTAD2	9792	ENSG00000179833			Sertad2 (MGI:1931026)
chr2	64988479	65023865	2p14	2p14	600229	SLC1A4, SATT, ASCT1, SPATCCM	Solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	SLC1A4	6509	ENSG00000115902		Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3), Autosomal recessive	Slc1a4 (MGI:2135601)
chr2	65056416	65087004	2p14	2p14	616889	CEP68, KIAA0582	Centrosomal protein, 68kD	CEP68	23177	ENSG00000011523			Cep68 (MGI:2667663)
chr2	65086854	65130106	2p14	2p14	179508	RAB1A, RAB1	RAB1A member RAS oncogene family	RAB1A	5861	ENSG00000138069			Rab1a (MGI:97842)
chr2	65227831	65271253	2p14	2p14	604221	ACTR2, ARP2	Actin-related protein 2	ACTR2	10097	ENSG00000138071			Actr2 (MGI:1913963)
chr2	65307175	65432599	2p14	2p14	609292	SPRED2, NS14	Sprouty-related EVH1 domain-containing protein 2	SPRED2	200734	ENSG00000198369		Noonan syndrome 14, 619745 (3), Autosomal recessive	Spred2 (MGI:2150019)
chr2	66435125	66573869	2p14-p13	2p14	601739	MEIS1	Meis homeobox 1	MEIS1	4211	ENSG00000143995			Meis1 (MGI:104717)
chr2	67397333	67412089	2p15-p13	2p14	613196	ETAA1, ETAA16	Ewing tumor-associated antigen 1	ETAA1	54465	ENSG00000143971			Etaa1 (MGI:1915395)
chr2	68041130	68063004	2p13-p12	2p14	606997	C1D, SUNCOR	Nuclear DNA-binding protein C1D	C1D	10438	ENSG00000197223	pseudogene on chr.10		C1d (MGI:1927354)
chr2	68129805	68157527	2q14	2p14	610729	DNAAF10, WDR92, LOC116143, MONAD	Dynein, axonemal, assembly factor 10	DNAAF10	116143	ENSG00000243667			Dnaaf10 (MGI:2144224)
chr2	68157888	68176238	2p14	2p14	618710	PNO1	Partner of NOB1	PNO1	56902	ENSG00000115946			Pno1 (MGI:1913499)
chr2	68178857	68252532	2p16-p15	2p14	601302	PPP3R1, CALNB1	Protein phosphatase-3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)	PPP3R1	5534	ENSG00000221823			Ppp3r1 (MGI:107172)
chr2	68284171	68319949	2p14	2p14	618538	CNRIP1, CRIP1	Cannabinoid receptor-interacting protein 1	CNRIP1	25927	ENSG00000119865			Cnrip1 (MGI:1917505)
chr2	68365282	68397453	2p	2p14	173570	PLEK	Pleckstrin	PLEK	5341	ENSG00000115956			Plek (MGI:1860485)
chr2	68400001	74800000	2p13		602966	OFC2	Orofacial cleft 2		4964		?relation to TGFA	Orofacial cleft 2, 602966 (2), Autosomal dominant	
chr2	68400001	74800000	2p13		602404	PARK3	Parkinson disease 3		5072			{Parkinson disease 3}, 602404 (2)	
chr2	68400001	74800000	2p13		189800	PEE1, PREG1	Preeclampsia/eclampsia 1		5177		?distinct loci at 2p25 and 9p13	Preeclampsia/eclampsia 1, 189800 (2), Autosomal dominant	
chr2	68459422	68467294	2p13.3	2p13.3	620549	FBXO48	F-box protein 48	FBXO48	554251	ENSG00000204923			Fbxo48 (MGI:2442569)
chr2	68467585	68580162	2p14	2p13.3	611035	AFPL, C2orf13	Aprataxin- and PNK-like factor	APLF	200558	ENSG00000169621			Aplf (MGI:1919353)
chr2	68643579	68658251	2p13.3	2p13.3	607122	PROKR1, PKR1, GPR73	Prokineticin receptor 1	PROKR1	10887	ENSG00000169618			Prokr1 (MGI:1929676)
chr2	68710544	68826833	2p13	2p13.3	610587	ARHGAP25, KAIA0053	RHO GTPase-activating protein 25	ARHGAP25	9938	ENSG00000163219			Arhgap25 (MGI:2443687)
chr2	68860909	68871397	2p13.3	2p13.3	608748	BMP10	Bone morphogenetic protein 10	BMP10	27302	ENSG00000163217			Bmp10 (MGI:1338820)
chr2	68945232	68952893	2p13.3	2p13.3	618589	GKN2, GDDR	Gastrokine 2	GKN2	200504	ENSG00000183607			Gkn2 (MGI:1913534)
chr2	68974636	68980976	2p13.3	2p13.3	606402	GKN1, CA11	Gastrokine 1	GKN1	56287	ENSG00000169605			Gkn1 (MGI:1913533)
chr2	69013144	69249327	2p13.1	2p13.3	606410	ANTXR1, TEM8, ATR, GAPO	Anthrax toxin receptor 1	ANTXR1	84168	ENSG00000169604	mutation identified in 1 HCI patient	GAPO syndrome, 230740 (3), Autosomal recessive; {?Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant	Antxr1 (MGI:1916788)
chr2	69319780	69387227	2p13	2p13.3	138292	GFPT1, GFAT1, GFPT1L, MSLG, CMS12, CMSTA1	Glutamine-fructose-6-phosphate transaminase	GFPT1	2673	ENSG00000198380		Myasthenia, congenital, 12, with tubular aggregates, 610542 (3), Autosomal recessive	Gfpt1 (MGI:95698)
chr2	69395750	69439567	2p15-p13	2p13.3	608100	NFU1, HIRIP, MMDS1, SPG93	NFU1 iron-sulfur cluster scaffold	NFU1	27247	ENSG00000169599		Spastic paraplegia 93, autosomal recessive, 620938 (3), Autosomal recessive; Multiple mitochondrial dysfunctions syndrome 1, 605711 (3), Autosomal recessive	Nfu1 (MGI:1913290)
chr2	69457997	69643739	2p13.3	2p13.3	616405	AAK1, KIAA1048	Adaptor protein 2-associated kinase 1	AAK1	22848	ENSG00000115977			Aak1 (MGI:1098687)
chr2	69643808	69827112	2p13	2p13.3	106491	ANXA4, ANX4	Annexin A4 (placental anticoagulant protein II)	ANXA4	307	ENSG00000196975			Anxa4 (MGI:88030)
chr2	69829660	69881384	2p13.3	2p13.3	618627	GMCL1, SPATA29, BTBD13	Germ cell-less 1, spermatogenesis-associated	GMCL1	64395	ENSG00000087338			Gmcl1 (MGI:1345156)
chr2	69893956	69905236	2p13.3	2p13.3	619629	SNRNP27, RY1	Small nuclear ribonucleoprotein U4/U6.U5, subunit 27	SNRNP27	11017	ENSG00000124380			Snrnp27 (MGI:1913868)
chr2	69915109	69942945	2p13	2p13.3	600021	MAD	MAD protein (MAX-binding protein)	MXD1	4084	ENSG00000059728			Mxd1 (MGI:96908)
chr2	69932717	70087375	2p13.1	2p13.3	611765	ASPRV1, SASP, TAPS, MUNO, ADLI	Aspartic peptidase, retroviral-like 1	ASPRV1	151516	ENSG00000293615		Ichthyosis, lamellar, autosomal dominant, 146750 (3), Autosomal dominant	Asprv1 (MGI:1915105)
chr2	70087477	70089203	2p13-p12	2p13.3	601209	PCBP1	Poly(rC)-binding protein-1	PCBP1	5093	ENSG00000169564			Pcbp1 (MGI:1345635)
chr2	70209444	70248793	2p13	2p13.3	603518	TIA1, WDM, ALS26	TIA1 cytotoxic granule-associated RNA-binding protein	TIA1	7072	ENSG00000116001		Welander distal myopathy, 604454 (3), Autosomal recessive, Autosomal dominant; Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, 619133 (3), Autosomal dominant	Tia1 (MGI:107914)
chr2	70257915	70281185	2p13.3	2p13.3	610995	PCYOX1, PCL1, KIAA0908	Prenylcysteine oxidase 1	PCYOX1	51449	ENSG00000116005			Pcyox1 (MGI:1914131)
chr2	70281362	70293740	2p13.3	2p13.3	603542	SNRPG	Small nuclear ribonucleoprotein polypeptide G	SNRPG	6637	ENSG00000143977			Snrpg (MGI:1915261)
chr2	70295976	70302067	2p13.3	2p13.3	616275	FAM136A	Family with sequence similarity 136, member A	FAM136A	84908	ENSG00000035141			Fam136a (MGI:1913738)
chr2	70447284	70553826	2p13	2p13.3	190170	TGFA	Transforming growth factor, alpha	TGFA	7039	ENSG00000163235			Tgfa (MGI:98724)
chr2	70656784	70768200	2p14-p13	2p13.3	102681	ADD2	Adducin-2, beta	ADD2	119	ENSG00000075340			Add2 (MGI:87919)
chr2	70777310	70790643	2p12	2p13.3	608697	FIGLA, POF6	Folliculogenesis specific bHLH transcription factor	FIGLA	344018	ENSG00000183733		Premature ovarian failure 6, 612310 (3), Autosomal recessive, Autosomal dominant	Figla (MGI:1349421)
chr2	70808643	70825235	2p13.3	2p13.3	620105	CLEC4F, KCR, KCLR	C-type lectin domain family 4, member F	CLEC4F	165530	ENSG00000152672			Clec4f (MGI:1859834)
chr2	70824130	70835816	2p13	2p13.3	604862	CD207, LANGERIN, CLEC4K	CD207 antigen	CD207	50489	ENSG00000116031	mutation identified in 1 patient	[?Birbeck granule deficiency], 613393 (3)	Cd207 (MGI:2180021)
chr2	70900576	70933446	2p13	2p13.3	604295	VAX2	Ventral anterior homeobox 2	VAX2	25806	ENSG00000116035			Vax2 (MGI:1346018)
chr2	70935900	70965431	2cen-q13	2p13.3	192132	ATP6V1B1, ATP6B1, VPP3, DRTA2	ATPase, H+ transporting, V1 subunit B1	ATP6V1B1	525	ENSG00000116039		Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, 267300 (3), Autosomal recessive	Atp6v1b1 (MGI:103285)
chr2	70978445	70985499	2p13.3	2p13.3	617009	ANKRD53	Ankyrin repeat domain-containing protein 53	ANKRD53	79998	ENSG00000144031			Ankrd53 (MGI:1922555)
chr2	70985942	70994873	2p13.3	2p13.3	618562	TEX261	Testis-expressed gene 261	TEX261	113419	ENSG00000144043			Tex261 (MGI:1096575)
chr2	71068296	71079808	2p13.3	2p13.3	606828	NAGK, GNK	N-acetylglucosamine kinase	NAGK	55577	ENSG00000124357			Nagk (MGI:1860418)
chr2	71109687	71130229	2p13.3	2p13.3	608419	MCEE	Methylmalonyl-CoA epimerase	MCEE	84693	ENSG00000124370		Methylmalonyl-CoA epimerase deficiency, 251120 (3), Autosomal recessive	Mcee (MGI:1920974)
chr2	71130634	71150101	2p13.3	2p13.3	605503	MPHOSPH10, MPP10	M-phase phosphoprotein 10	MPHOSPH10	10199	ENSG00000124383			Mphosph10 (MGI:1915223)
chr2	71182738	71227103	2p13.3	2p13.3	611018	PAIP2B	Polyadenylate-binding protein-interacting protein 2B	PAIP2B	400961	ENSG00000124374			Paip2b (MGI:2386865)
chr2	71331782	71435061	2p13.2	2p13.2	614349	ZNF638, NP220	Zinc finger protein 638	ZNF638	27332	ENSG00000075292			Zfp638 (MGI:1203484)
chr2	71453561	71686763	2p13.3-p13.1	2p13.2	603009	DYSF, LGMDR2, MMD1	Dysferlin	DYSF	8291	ENSG00000135636		Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3), Autosomal recessive; Miyoshi muscular dystrophy 1, 254130 (3), Autosomal recessive; Myopathy, distal, with anterior tibial onset, 606768 (3), Autosomal recessive	Dysf (MGI:1349385)
chr2	72129238	72147862	2p13.2	2p13.2	605207	CYP26B1, CYP26A2, P450RAI2, RHFCA	Cytochrome P450, subfamily XXVIB, polypeptide 1	CYP26B1	56603	ENSG00000003137		Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)	Cyp26b1 (MGI:2176159)
chr2	72175984	72826033	2p13.2	2p13.2	607880	EXOC6B, SEC15B, KIAA0919, SEMDJL3	Exocyst complex component 6B	EXOC6B	23233	ENSG00000144036		Spondyloepimetaphyseal dysplasia with joint laxity, type 3, 618395 (3), Autosomal recessive	Exoc6b (MGI:1923164)
chr2	72887408	72892158	2p14-p12	2p13.2	182125	SPR	Sepiapterin reductase	SPR	6697	ENSG00000116096		Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3), Autosomal recessive, ?Autosomal dominant	Spr (MGI:103078)
chr2	72916189	72934891	2p14-p13	2p13.2	600034	EMX1	Empty spiracles homeobox 1	EMX1	2016	ENSG00000135638	close to VAX2		Emx1 (MGI:95387)
chr2	72942036	73071712	2p13	2p13.2	615572	SFXN5	Sideroflexin 5	SFXN5	94097	ENSG00000144040			Sfxn5 (MGI:2137681)
chr2	73073382	73112948	2p13-p12	2p13.2	605536	RAB11RIP5, RIP11, KIAA0857	Rab11 family-interacting protein 5	RAB11FIP5	26056	ENSG00000135631			Rab11fip5 (MGI:1098586)
chr2	73202574	73212513	2p13.2	2p13.2	620695	NOTO	Notochord homeobox	NOTO	344022	ENSG00000214513			Noto (MGI:3053002)
chr2	73214245	73227221	2p13.2	2p13.2	619114	SMYD5	SET and MYND domain-containing protein 5	SMYD5	10322	ENSG00000135632			Smyd5 (MGI:108048)
chr2	73228006	73233284	2p13.2	2p13.2	619674	PRADC1, PAP21, C2orf7	Protease-associated domain-containing protein 1	PRADC1	84279	ENSG00000135617			Pradc1 (MGI:1920577)
chr2	73234308	73253005	2p13	2p13.2	605140	CCT7	Chaperonin containing T-complex polypeptide 1, subunit 7	CCT7	10574	ENSG00000135624			Cct7 (MGI:107184)
chr2	73254690	73284478	2p13.2	2p13.2	609108	FBXO41, FBX41, KIAA1940	F-box only protein 41	FBXO41	150726	ENSG00000163013			Fbxo41 (MGI:1261912)
chr2	73290929	73293548	2p13	2p13.2	128992	EGR4, NGFIC	Early growth response-4	EGR4	1961	ENSG00000135625			Egr4 (MGI:99252)
chr2	73385758	73609919	2p13	2p13.1	606844	ALMS1, ALSS, KIAA0328	ALMS1 centrosome and basal body associated protein	ALMS1	7840	ENSG00000116127		Alstrom syndrome, 203800 (3), Autosomal recessive	Alms1 (MGI:1934606)
chr2	73640723	73642422	2p13.1-p12	2p13.1	606716	NAT8, TSC510	N-acetyltransferase 8	NAT8	9027	ENSG00000144035			Nat8,Nat8b-ps,Nat8f2,Nat8f3,Nat8f4,Nat8f5,Nat8f6 (MGI:1915646,MGI:1916299,MGI:1922791,MGI:2136446,MGI:2136449,MGI:3644831,MGI:3779382)
chr2	73700509	73702125	2p13.1-p12	2p13.1	608190	NAT8B, CML2	N-acetyltransferase 8B	NAT8B	51471				Nat8,Nat8b-ps,Nat8f1,Nat8f2,Nat8f3,Nat8f4,Nat8f5,Nat8f6,Nat8f7 (MGI:1913366,MGI:1915646,MGI:1916299,MGI:1922791,MGI:2136446,MGI:2136449,MGI:3644831,MGI:3779382,MGI:3782661)
chr2	73729873	73737345	2p13.1	2p13.1	608680	TPRKB, GAMOS5	TP53RK-binding protein	TPRKB	51002	ENSG00000144034		Galloway-Mowat syndrome 5, 617731 (3), Autosomal recessive	Tprkb (MGI:1917036)
chr2	73762213	73780149	2p13.1	2p13.1	603092	DUSP11, PIR1	Dual specificity phosphatase-11, RNA/RNP complex-interacting	DUSP11	8446	ENSG00000144048			Dusp11 (MGI:1919352)
chr2	73828961	73873656	2p13.1	2p13.1	606247	STAMBP, AMSH, MICCAP	STAM binding protein	STAMBP	10617	ENSG00000124356		Microcephaly-capillary malformation syndrome, 614261 (3), Autosomal recessive	Stambp (MGI:1917777)
chr2	73893008	73919865	2p13.1	2p13.1	102545	ACTG2, ACTA3, VSCM1, MMIHS5	Actin, gamma-2, smooth muscle, enteric	ACTG2	72	ENSG00000163017		Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, 619431 (3), Autosomal dominant; Visceral myopathy 1, 155310 (3), Autosomal dominant	Actg2 (MGI:104589)
chr2	73926880	73958946	2p13	2p13.1	601465	DGUOK, DGK, MTDPS3, PEOB4, NCPH1	Deoxyguanosine kinase, mitochondrial	DGUOK	1716	ENSG00000114956		Portal hypertension, noncirrhotic, 1, 617068 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3), Autosomal recessive	Dguok (MGI:1351602)
chr2	73983631	74135498	2p13.1	2p13.1	613555	TET3, KIAA0401, BEFAHRS	tet methylcytosine dioxygenase 3	TET3	200424	ENSG00000187605		Beck-Fahrner syndrome, 618798 (3), Autosomal recessive, Autosomal dominant	Tet3 (MGI:2446229)
chr2	74135400	74147912	2p13.1	2p13.1	613183	BOLA3, MMDS2	bolA family member 3	BOLA3	388962	ENSG00000163170		Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3), Autosomal recessive	Bola3 (MGI:1925903)
chr2	74152528	74178879	2p13.1	2p13.1	609281	MOB1A, MABKL1B, MATS1, C2orf6	MOB kinase activator 1A	MOB1A	55233	ENSG00000114978			Mob1a (MGI:2442631)
chr2	74198615	74217565	2p13.1	2p13.1	604887	MTHFD2	Methylenetetrahydrofolate dehydrogenase 2	MTHFD2	10797	ENSG00000065911			Mthfd2 (MGI:1338850)
chr2	74216242	74343416	2p13	2p13.1	606757	SLC4A5, NBC4	Solute carrier family 4, sodium bicarbonate cotransporter, member 5	SLC4A5	57835	ENSG00000188687			Slc4a5 (MGI:2443220)
chr2	74361155	74391866	2p13	2p13.1	601143	DCTN1, HMND14	Dynactin 1	DCTN1	1639	ENSG00000204843		Perry syndrome, 168605 (3), Autosomal dominant; {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Neuronopathy, distal hereditary motor, autosomal dominant 14, 607641 (3), Autosomal dominant	Dctn1 (MGI:107745)
chr2	74421730	74425755	2p13.1	2p13.1	620826	WDR54	WD repeat-containing protein 54	WDR54	84058	ENSG00000005448			Wdr54 (MGI:1922909)
chr2	74425835	74441937	2p13	2p13.1	602288	RTKN	Rhotekin	RTKN	6242	ENSG00000114993			Rtkn (MGI:107371)
chr2	74455087	74457944	2p13	2p13.1	616456	INO80B, PAPA1, HMGA1L4	INO80 complex, subunit B	INO80B	83444	ENSG00000115274			Ino80b (MGI:1917270)
chr2	74458438	74460881	2p12	2p13.1	606961	WBP1	WW domain-binding protein 1	WBP1	23559	ENSG00000239779			Wbp1 (MGI:104710)
chr2	74461057	74465382	2p13.1	2p13.1	601336	MOGS, GCS1, CDG2B	Mannosyl-oligosaccharide glucosidase	MOGS	7841	ENSG00000115275		Congenital disorder of glycosylation, type IIb, 606056 (3), Autosomal recessive	Mogs (MGI:1929872)
chr2	74471982	74472680	2p12	2p13.1	611857	MRPL53	Mitochondrial ribosomal protein L53	MRPL53	116540	ENSG00000204822	pseudogene on 1		Mrpl53 (MGI:1915749)
chr2	74497517	74503316	2p13	2p13.1	607164	LBX2	Lady bird-like homeobox 2	LBX2	85474	ENSG00000179528			Lbx2 (MGI:1342288)
chr2	74505043	74507695	2p13.1	2p13.1	610231	PCGF1, NSPC1	Polycomb group RING finger protein 1	PCGF1	84759	ENSG00000115289			Pcgf1 (MGI:1917087)
chr2	74514450	74517148	2p13.1-p12	2p13.1	604240	TLX2, HOX11L1	T-cell leukemia, homeobox 2	TLX2	3196	ENSG00000115297			Tlx2 (MGI:1350935)
chr2	74518131	74526231	2p13	2p13.1	620580	DQX1	DEAQ-box RNA-dependent ATPase 1	DQX1	165545	ENSG00000144045			Dqx1 (MGI:2136388)
chr2	74526652	74529706	2p13	2p13.1	602434	AUP1	Ancient ubiquitous protein 1	AUP1	550	ENSG00000115307			Aup1 (MGI:107789)
chr2	74529405	74533556	2p12	2p13.1	606441	HTRA2, OMI, PARK13, PRSS25, MGCA8	HTRA serine peptidase 2	HTRA2	27429	ENSG00000115317		{Parkinson disease 13}, 610297 (3); 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive	Htra2 (MGI:1928676)
chr2	74532258	74555702	2p13.3	2p13.1	607163	LOXL3, MYP28	Lysyl oxidase-like 3	LOXL3	84695	ENSG00000115318		Myopia 28, autosomal recessive, 619781 (3), Autosomal recessive	Loxl3 (MGI:1337004)
chr2	74549105	74557551	2p13	2p13.1	602919	DOK1	Downstream of tyrosine kinase 1	DOK1	1796	ENSG00000115325			Dok1 (MGI:893587)
chr2	74557883	74648330	2p13.1	2p13.1	619098	M1AP, SPATA37, C2orf65, SPGF48	Meiosis 1-associated protein	M1AP	130951	ENSG00000159374		Spermatogenic failure 48, 619108 (3), Autosomal recessive	M1ap (MGI:1315200)
chr2	74654247	74709713	2p13	2p13.1	603706	SEMAW	Semaphorin W	SEMA4F	10505	ENSG00000135622			Sema4f (MGI:1340055)
chr2	74800001	83100000	2p12		607304	CTRCT27, CCNP	Cataract 27, nuclear progressive		266979		near D2S2333	Cataract 27, nuclear progressive, 607304 (2)	
chr2	74800001	91800000	2p12-p11.2		613564	DEL2p12p11.2, C2DELp12p11.2	Chromosome 2p12-p11.2 deletion syndrome				contiguous gene deletion syndrome	Chromosome 2p12-p11.2 deletion syndrome, 613564 (4), Isolated cases	
chr2	74800001	83100000	2p12		608394	DFNA43	Deafness, autosomal dominant 43		192676		max lod at D2S139	Deafness, autosomal dominant 43, 608394 (2), Autosomal dominant	
chr2	74800001	147900000	2p12-q22		139900	HSR	Hand skill, relative		338386			[Handedness], 139900 (2), Autosomal dominant	
chr2	74800001	83100000	2p12		146970	IGKJ@	Immunoglobulin kappa light chain joining gene cluster		7842		5 genes		
chr2	74800001	83100000	2p12		146980	IGKV@	Immunoglobulin kappa light chain variable gene cluster		3519		25+ genes in 4 classes; orphon gene 1.5Mb telomeric of IGKC		
chr2	74834127	74893359	2p12	2p12	601125	HK2	Hexokinase-2, muscle	HK2	3099	ENSG00000159399	no recombination with TGFA		Hk2 (MGI:1315197)
chr2	74958643	74970128	2p12	2p12	607269	POLE4	Polymerase, DNA, epsilon-4	POLE4	56655	ENSG00000115350			Pole4 (MGI:1914229)
chr2	75046463	75199520	2p11	2p12	162323	TACR1, TAC1R, NK1R	Tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor)	TACR1	6869	ENSG00000115353			Tacr1 (MGI:98475)
chr2	75492318	75569719	2p12	2p12	618990	EVA1A, TMEM166, FAM176A	EVA1 homolog A, regulator of programmed cell death	EVA1A	84141	ENSG00000115363			Eva1a (MGI:2385247)
chr2	75646783	75662206	2p11.2-q11.2	2p12	611832	MRPL19, MRPL15, KIAA0104	Mitochondrial ribosomal protein L19	MRPL19	9801	ENSG00000115364			Mrpl19 (MGI:1926274)
chr2	75662705	75713122	2p11.2-p11.1	2p12	189901	C2orf3, TCF9, GCF	GC factor	GCFC2	6936	ENSG00000005436			Gcfc2 (MGI:2141656)
chr2	76747685	77522376	2p12	2p12	610870	LRRTM4	Leucine-rich repeat transmembrane protein 4	LRRTM4	80059	ENSG00000176204			Lrrtm4 (MGI:2389180)
chr2	79025702	79028501	2p12	2p12	609933	REG3G, PAP1B	Regenerating islet-derived 3-gamma	REG3G	130120	ENSG00000143954			Reg3b,Reg3g (MGI:109406,MGI:97478)
chr2	79085023	79087993	2p12	2p12	167771	REG1B, REGL, PSPS2	Regenerating family member 1 beta	REG1B	5968	ENSG00000172023			Reg1,Reg2 (MGI:97895,MGI:97896)
chr2	79120488	79123409	2p12	2p12	167770	REG1A, PSPS1, REG	Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)	REG1A	5967	ENSG00000115386			Reg1,Reg2 (MGI:97895,MGI:97896)
chr2	79157006	79159753	2p12	2p12	167805	PAP	Pancreatitis-associated protein	REG3A	5068	ENSG00000172016			Reg3a,Reg3b (MGI:109408,MGI:97478)
chr2	79185377	80648780	2p12-p11.1	2p12	114025	CTNNA2, CAPR, CTNR, CDCBM9	Catenin, alpha-2 (cadherin-associated protein, related)	CTNNA2	1496	ENSG00000066032		Cortical dysplasia, complex, with other brain malformations 9, 618174 (3), Autosomal recessive	Ctnna2 (MGI:88275)
chr2	80288356	80304752	2p12	2p12	610867	LRRTM1	Leucine-rich repeat transmembrane protein 1	LRRTM1	347730	ENSG00000162951			Lrrtm1 (MGI:2389173)
chr2	84423528	84459280	2p11.2	2p11.2	611224	SUCLG1, SUCLA1, MTDPS9	Succinate-CoA ligase, GDP/ADP-forming, subunit alpha	SUCLG1	8802	ENSG00000163541		Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3), Autosomal recessive	Suclg1 (MGI:1927234)
chr2	84459572	84819589	2p11.2	2p11.2	603336	DNAH6, HL2	Dynein, axonemal, heavy chain 6	DNAH6	1768	ENSG00000115423			Dnah6 (MGI:107744)
chr2	84821666	84881084	2p11.2	2p11.2	614912	TRABD2A, TIKI1	TRAB domain-containing protein 2A	TRABD2A	129293	ENSG00000186854			
chr2	84905656	84906671	2p11.2	2p11.2	188399	TMSB10	Thymosin, beta-10	TMSB10	9168	ENSG00000034510			Tmsb10,Tmsb10b (MGI:109146,MGI:3704288)
chr2	84971161	85059472	2p11.2	2p11.2	614719	KCMF1, DEBT91, FIGC	Potassium channel modulatory factor 1	KCMF1	56888	ENSG00000176407			Kcmf1 (MGI:1921537)
chr2	85133392	85310387	2p11.2	2p11.2	604652	TCF7L1	Transcription factor 7-like 1	TCF7L1	83439	ENSG00000152284			Tcf7l1 (MGI:1202876)
chr2	85318027	85327989	2p11.2	2p11.2	603062	TGOLN2, TGN46, TGN38	Trans-golgi network protein 2, 46kD	TGOLN2	10618	ENSG00000152291			Tgoln1,Tgoln2 (MGI:105079,MGI:105080)
chr2	85341955	85354528	2p11.2	2p11.2	617597	RETSAT	Retinol saturase	RETSAT	54884	ENSG00000042445			Retsat (MGI:1914692)
chr2	85354769	85391748	2p11.3	2p11.2	615427	ELMOD3, RBED1, DFNB88, DFNA81	ELMO/CED12 domain-containing protein 3	ELMOD3	84173	ENSG00000115459	mutation identified in 1 DFNB88 and 1 DFNA81 family	?Deafness, autosomal recessive 88, 615429 (3), Autosomal recessive; ?Deafness, autosomal dominant 81, 619500 (3), Autosomal dominant	Elmod3 (MGI:2445168)
chr2	85391602	85419540	2p11.2	2p11.2	153615	CAPG	Capping protein, gelsolin-like	CAPG	822	ENSG00000042493			Capg (MGI:1098259)
chr2	85537467	85538886	2p11.2	2p11.2	616350	PARTICL	Promoter of MAT2A antisense radiation-induced circulating long noncoding RNA	PARTICL	100630918	ENSG00000286532	overlaps promoter of MAT2A on opposite strand		
chr2	85539168	85545281	2p11.2	2p11.2	601468	MAT2A, MATA2, SAMS2	Methionine adenosyltransferase II, alpha	MAT2A	4144	ENSG00000168906			Mat2a (MGI:2443731)
chr2	85544720	85561493	2p12	2p11.2	137167	GGCX, VKCFD1	Gamma-glutamyl carboxylase	GGCX	2677	ENSG00000115486		Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3), Autosomal recessive; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)	Ggcx (MGI:1927655)
chr2	85577586	85582031	2p12-p11.2	2p11.2	603177	VAMP8	Vesicle-associated membrane protein 8	VAMP8	8673	ENSG00000118640			Vamp8 (MGI:1336882)
chr2	85584431	85593406	2p11.2	2p11.2	607029	VAMP5	Vesicle-associated membrane protein 5 (myobrevin)	VAMP5	10791	ENSG00000168899			Vamp5 (MGI:1858622)
chr2	85595745	85597708	2p11.2	2p11.2	612490	RNF181	RING finger protein 181	RNF181	51255	ENSG00000168894			Rnf181 (MGI:1913760)
chr2	85598547	85602698	2p11.2	2p11.2	616757	TMEM150A, TMEM150	Transmembrane protein 150A	TMEM150A	129303	ENSG00000168890			Tmem150a (MGI:2385244)
chr2	85602861	85649283	2p11.2	2p11.2	611594	USP39, SAD1	Ubiquitin-specific protease 39	USP39	10713	ENSG00000168883			Usp39 (MGI:107622)
chr2	85605254	85612066	2p11.2	2p11.2	618519	C2orf68, HCRCN81	Chromosome 2 open reading frame 68	C2orf68	388969	ENSG00000168887			0610030E20Rik (MGI:1915614)
chr2	85657307	85668741	2p12-p11.2	2p11.2	178640	SFTPB, SFTB3, SMDP1	Pulmonary surfactant-associated protein B, 18kD	SFTPB	6439	ENSG00000168878		Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3), Autosomal recessive	Sftpb (MGI:109516)
chr2	85694358	85698852	2p12-q11	2p11.2	188855	GNLY, D2S69E, TLA519	Granulysin (T-lymphocyte activation gene 519)	GNLY	10578	ENSG00000115523			
chr2	85753991	85791383	2p11.2	2p11.2	619820	ATOH8	Atonal bHLH transcription factor 8	ATOH8	84913	ENSG00000168874			Atoh8 (MGI:1918343)
chr2	85837120	85889034	2p11.2	2p11.2	604402	SIAT9, ST3GALV, SPDRS	Sialyltransferase 9	ST3GAL5	8869	ENSG00000115525		Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive	St3gal5 (MGI:1339963)
chr2	86020216	86105886	2p11.2	2p11.2	616404	POLR1A, RPA194, AFDCIN, HLD27	Polymerase I, RNA, subunit A	POLR1A	25885	ENSG00000068654		Leukodystrophy, hypomyelinating, 27, 620675 (3), Autosomal recessive; Acrofacial dysostosis, Cincinnati type, 616462 (3), Autosomal dominant	Polr1a (MGI:1096397)
chr2	86106235	86142157	2p11.2	2p11.2	614918	PTCD3, COXPD51	Pentatricopeptide repeat domain-containing protein 3	PTCD3	55037	ENSG00000132300		Combined oxidative phosphorylation deficiency 51, 619057 (3), Autosomal recessive	Ptcd3 (MGI:1917206)
chr2	86135870	86136006	2p11.2	2p11.2	620810	SNORD94	Small nucleolar RNA, C/D box, 94	SNORD94	692225	ENSG00000208772			
chr2	86143936	86195462	2p11.2	2p11.2	600378	IMMT, HMP	Inner membrane protein, mitochondrial (mitofilin)	IMMT	10989	ENSG00000132305	pseudogene on chr.21		Immt (MGI:1923864)
chr2	86199433	86213794	2p11.2	2p11.2	611841	MRPL35	Mitochondrial ribosomal protein L35	MRPL35	51318	ENSG00000132313	pseudogenes on 6, 10, and X		Mrpl35 (MGI:1913473)
chr2	86213993	86338083	2p11.2	2p11.2	609139	REEP1, C2orf23, SPG31, HMND12, HMNR6	Receptor expression-enhancing protein 1	REEP1	65055	ENSG00000068615	mutation identified in 1 HMND12 family	Neuronopathy, distal hereditary motor, autosomal recessive 6, 620011 (3), Autosomal recessive; Spastic paraplegia 31, autosomal dominant, 610250 (3), Autosomal dominant; ?Neuronopathy, distal hereditary motor, autosomal dominant 12, 614751 (3), Autosomal dominant	Reep1 (MGI:1098827)
chr2	86437044	86492716	2p11.2	2p11.2	611512	KDM3A, JMJD1A, JHDM2A, TSGA, KIAA0742	Lysine demethylase 3A	KDM3A	55818	ENSG00000115548			Kdm3a (MGI:98847)
chr2	86503430	86563443	2p24	2p11.2	610052	CHMP3, VPS24, NEDF	Charged multivesicular body protein 3	CHMP3	51652	ENSG00000115561			Chmp3 (MGI:1913950)
chr2	86603393	86623877	2p11.2	2p11.2	602507	RNF103, ZFP103, KF1	RING finger protein 103	RNF103	7844	ENSG00000239305			Rnf103 (MGI:109483)
chr2	86720291	86778041	2p11.2	2p11.2	618964	RMND5A, RMD5, GID2	Required for meiotic nuclear division 5 homolog A	RMND5A	64795	ENSG00000153561			Rmnd5a (MGI:1915727)
chr2	86784605	86808396	2p12	2p11.2	186910	CD8A, IMD116	CD8 antigen, alpha polypeptide  (p32)	CD8A	925	ENSG00000153563	distal to IGK	Immunodeficiency 116, 608957 (3), Autosomal recessive	Cd8a (MGI:88346)
chr2	86815369	86861886	2p12	2p11.2	186730	CD8B1, CD8B	CD8 antigen, beta polypeptide 1 (p37)	CD8B	926	ENSG00000172116	pseudogene, CD8B2, on 2q12		Cd8b1 (MGI:88347)
chr2	86913659	87013976	2p11.2	2p11.2	612704	RGPD1, RGP1	RANBP2-like and GRIP domain-containing protein 1	RGPD1	400966	ENSG00000187627			Ranbp2 (MGI:894323)
chr2	87010224	87021844	2p11-q11	2p11.2	173340	PLGLB1, PLGL, PRGB	Plasminogen-like B1	PLGLB1	5343	ENSG00000183281			
chr2	87755960	87989818	2p11.2	2p11.2	612705	RGPD2, RGP2	RANBP2-like and GRIP domain-containing protein 2	RGPD2	729857	ENSG00000185304			Ranbp2 (MGI:894323)
chr2	88067825	88113384	2p11.2	2p11.2	606846	SMYD1, BOP, ZMYND18	SET and MYND domain-containing protein 1	SMYD1	150572	ENSG00000115593			Smyd1 (MGI:104790)
chr2	88122982	88128062	2p11	2p11.2	134650	FABP1	Fatty acid-binding protein, liver	FABP1	2168	ENSG00000163586			Fabp1 (MGI:95479)
chr2	88170346	88186627	2p11.2	2p11.2	611261	THNSL2, THS2	Threonine synthase-like 2	THNSL2	55258	ENSG00000144115			Thnsl2 (MGI:3041254)
chr2	88446787	88452693	2p11.2	2p11.2	612351	FOXI3, CFM2	Forkhead box I3	FOXI3	344167	ENSG00000214336		Craniofacial microsomia 2, 620444 (3), Autosomal recessive, Autosomal dominant	Foxi3 (MGI:3511278)
chr2	88524649	88529585	2p11.2	2p11.2	619676	SPMIP9, TEX37, TSC21	Sperm microtubule inner protein 9	SPMIP9	200523	ENSG00000172073			Spmip9 (MGI:1921471)
chr2	88556741	88628145	2p12	2p11.2	604032	EIF2AK3, PEK, PERK, WRS	Eukaryotic translation initiation factor 2-alpha kinase 3	EIF2AK3	9451	ENSG00000172071		Wolcott-Rallison syndrome, 226980 (3), Autosomal recessive	Eif2ak3 (MGI:1341830)
chr2	88691673	88750929	2p11.2	2p11.2	180430	RPIA, RPI, RPIAD	Ribose 5-phosphate isomerase A	RPIA	22934	ENSG00000153574		Ribose 5-phosphate isomerase deficiency, 608611 (3), Autosomal recessive	Rpia (MGI:103254)
chr2	88832222	88833331	2p12	2p11.2	146780	IGKDEL	Immunoglobulin kappa polypeptide deleting element		3515				
chr2	88857361	88857683	2p12	2p11.2	147200	IGKC, IGKCD	Immunoglobulin kappa constant region		3514	ENSG00000211592		Kappa light chain deficiency, 614102 (3), Autosomal recessive	Igkc,Igkv15-103 (MGI:96495,MGI:96513)
chr2	93900001	108700000	2q11-q12		612006	CELIAC8	Celiac disease, susceptibility to, 8		100188870		associated with rs917997 and rs13015714	{Celiac disease, susceptibility to, 8}, 612006 (2)	
chr2	93900001	242193529	2q		606963	COPD	Pulmonary disease, chronic obstructive, severe early-onset		260431		?SERPINE2	Pulmonary disease, chronic obstructive, severe early-onset, 606963 (2)	
chr2	93900001	112200000	2cen-q13		606689	GLC1B	Glaucoma 1, open angle, B (adult-onset)		2722			Glaucoma 1B, primary open angle, adult onset, 606689 (2)	
chr2	93900001	129100000	2q11-q14		611897	NNO3	Nanophthalmos 3		100187717		max lod at D2S2265	Nanophthalmos 3, 611897 (2)	
chr2	95025708	95053992	2cen-q13	2q11.1	188860	MAL, HLD28	T-lymphocyte maturation-associated protein	MAL	4118	ENSG00000172005	mutation identified in 1 HLD28 family	?Leukodystrophy, hypomyelinating, 28, 620978 (3), Autosomal recessive	Mal (MGI:892970)
chr2	95085369	95122003	2p11.2-q11.2	2q11.1	611972	MRPS5	Mitochondrial ribosomal protein S5	MRPS5	64969	ENSG00000144029			Mrps5 (MGI:1924971)
chr2	95165809	95184317	2q11.2	2q11.1	194500	ZNF2	Zinc finger protein-2	ZNF2	7549	ENSG00000275111			Zfp661 (MGI:1919430)
chr2	95274449	95291302	2q11.1	2q11.1	617160	PROM2, PROML2	Prominin 2	PROM2	150696	ENSG00000155066			Prom2 (MGI:2138997)
chr2	95297347	95386077	2q11.1	2q11.1	604662	KCNIP3, KCHIP3, CSEN, DREAM	Potassium channel-interacting protein 3	KCNIP3	30818	ENSG00000115041			Kcnip3 (MGI:1929258)
chr2	96021946	96036265	2q11.2	2q11.2	616431	GPAT2	Glycerol-3-phosphate acyltransferase 2, mitochondrial	GPAT2	150763	ENSG00000186281			Gpat2 (MGI:2684962)
chr2	96112876	96116571	2q11.2	2q11.2	104260	ADRA2B, ADRA2L1	Adrenergic, alpha-2B-, receptor	ADRA2B	151	ENSG00000274286			Adra2b (MGI:87935)
chr2	96122818	96138564	2q11.2	2q11.2	608860	ASTL, OZEMA11	Astacin-like metalloendopeptidase	ASTL	431705	ENSG00000188886	mutation identified in 1 OZEMA11 family	?Oocyte/zygote/embryo maturation arrest 11, 619643 (3), Autosomal recessive	Astl (MGI:3046414)
chr2	96143169	96145440	2q11	2q11.2	603068	DUSP2, PAC1	Dual-specificity phosphatase-2	DUSP2	1844	ENSG00000158050			Dusp2 (MGI:101911)
chr2	96184859	96208827	2q11.2	2q11.2	616712	STARD7, GTT1, FAME2	START domain-containing protein 4	STARD7	56910	ENSG00000084090		Epilepsy, familial adult myoclonic, 2, 607876 (3), Autosomal dominant	Stard7 (MGI:2139090)
chr2	96248514	96265997	2q11	2q11.2	613403	TMEM127	Transmembrane protein 127	TMEM127	55654	ENSG00000135956		{Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant	Tmem127 (MGI:1916720)
chr2	96266225	96274173	2q11.2	2q11.2	604333	CIAO1, WDR39, MMDS10	WD repeat-containing protein CIAO1	CIAO1	9391	ENSG00000144021		Multiple mitochondrial dysfunctions syndrome 10, 620960 (3), Autosomal recessive	Ciao1 (MGI:1346998)
chr2	96274338	96305546	2q11.2	2q11.2	601664	SNRNP200, ASCC3L1, KIAA0788, RP33	Small nuclear ribonucleoprotein 200kD (U5)	SNRNP200	23020	ENSG00000144028		Retinitis pigmentosa 33, 610359 (3), Autosomal dominant	Snrnp200 (MGI:2444401)
chr2	96325317	96330507	2q11.2	2q11.2	620821	ITPRIPL1	ITPRIPL1-like protein 1	ITPRIPL1	150771	ENSG00000198885			Itpripl1 (MGI:1920588)
chr2	96335766	96377091	2q11.2	2q11.2	602332	NCAPH, CAPH, BRRN1, MCPH23	Non-SMC condensin I complex subunit H	NCAPH	23397	ENSG00000121152	mutation identified in 1 MCPH23 patient	?Microcephaly 23, primary, autosomal recessive, 617985 (3), Autosomal recessive	Ncaph (MGI:2444777)
chr2	96497646	96508109	2p11	2q11.2	617206	NEURL3, LINCR	Neuralized E3 ubiquitin protein ligase 3	NEURL3	93082	ENSG00000163121			Neurl3 (MGI:2429944)
chr2	96536752	96552638	2q11.2	2q11.2	611583	ARID5A, MRF1	AT-rich interactive domain-containing protein 5A	ARID5A	10865	ENSG00000196843			Arid5a (MGI:2443039)
chr2	96580494	96638312	2q11.2	2q11.2	617742	KANSL3, NSL3, KIAA1310	Kat8 regulatory NSL complex, subunit 3	KANSL3	55683	ENSG00000114982			Kansl3 (MGI:1918055)
chr2	96642764	96704883	2q11.2	2q11.2	620883	FER1L5	FER1-like family, member 5	FER1L5	90342	ENSG00000249715			Fer1l5 (MGI:3616091)
chr2	96705929	96740064	2q11.2	2q11.2	609552	LMAN2L, VIPL, MRT52, MRD69	Lectin, mannose binding 2-like	LMAN2L	81562	ENSG00000114988	mutation identified in 1 MRT52 family and in 1 MRD69 family	?Intellectual developmental disorder, autosomal dominant 69, 617863 (3), Autosomal dominant; ?Intellectual developmental disorder, autosomal recessive 52, 616887 (3), Autosomal recessive	Lman2l (MGI:2443010)
chr2	96760902	96811874	2q11.2	2q11.2	607805	CNNM4, ACDP4	Cyclin M4	CNNM4	26504	ENSG00000158158		Jalili syndrome, 217080 (3), Autosomal recessive	Cnnm4 (MGI:2151060)
chr2	96816268	96837466	2q11.2	2q11.2	607804	CNNM3, ACDP3	Cyclin M3	CNNM3	26505	ENSG00000168763	previously assigned to 2p12-p11.2		Cnnm3 (MGI:2151055)
chr2	96837912	96844021	2p11.2-q11.1	2q11.2	610736	ANKRD23, DARP	Ankyrin repeat domain-containing protein 23	ANKRD23	200539	ENSG00000163126			Ankrd23 (MGI:1925571)
chr2	96859718	96870830	5p15.3	2q11.2	604462	SEMA4C, SEMAF, KIAA1739	Semaphorin 4C	SEMA4C	54910	ENSG00000168758			Sema4c (MGI:109252)
chr2	97113153	97264521	2q11.2	2q11.2	620262	ANKRD36, KIAA1641	Ankyrin repeat domain-containing protein 36	ANKRD36	375248	ENSG00000135976			
chr2	97646062	97648383	2cen-q13	2q11.2	123866	COX5B	Cytochrome c oxidase, subunit Vb	COX5B	1329	ENSG00000135940	7 pseudogenes on 4, 6, 7, 11, 12, 13, and 22		Cox5b (MGI:88475)
chr2	97655939	97664044	2q11.1-q11.2	2q11.2	605144	ACTR1B, ARP1B, CTRN2	Actin-related protein 1B	ACTR1B	10120	ENSG00000115073			Actr1b (MGI:1917446)
chr2	97713576	97756364	2q12	2q11.2	176947	ZAP70, SRK, ADMIO2, IMD48	Zeta-chain associated protein kinase, 70kD (syk-related tyrosine kinase)	ZAP70	7535	ENSG00000115085		Immunodeficiency 48, 269840 (3), Autosomal recessive; Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3), Autosomal recessive	Zap70 (MGI:99613)
chr2	97756336	97995948	2q11.2	2q11.2	615659	TMEM131, KIAA0257, CC28	Transmembrane protein 131	TMEM131	23505	ENSG00000075568			Tmem131 (MGI:1927110)
chr2	98087167	98330616	2q11.2	2q11.2	614884	VWA3B, SCAR22	von Willebrand factor A domain-containing protein 3B	VWA3B	200403	ENSG00000168658	mutation identified in 1 SCAR22 family	?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3), Autosomal recessive	Vwa3b (MGI:1918103)
chr2	98346456	98398601	2q11	2q11.2	600053	CNGA3, CNG3, ACHM2	Cyclic nucleotide-gated channel, alpha-3	CNGA3	1261	ENSG00000144191		Achromatopsia 2, 216900 (3), Autosomal recessive	Cnga3 (MGI:1341818)
chr2	98444587	98594392	2q11.2	2q11.2	600916	INPP4A, INPP4	Inositol polyphosphate-4-phosphatase, type I, 107kD	INPP4A	3631	ENSG00000040933			Inpp4a (MGI:1931123)
chr2	98599314	98608512	2q11.2	2q11.2	613920	COA5, C2orf64, PET191, MC4DN9	Cytochrome c oxidase assembly factor 5	COA5	493753	ENSG00000183513	mutation identified in 1 MC4DN9 family	?Mitochondrial complex IV, deficiency, nuclear type 9, 616500 (3), Autosomal recessive	Coa5 (MGI:1923428)
chr2	98608589	98618515	2q11.2	2q11.2	617826	UNC50, UNCL, GMH1	Unc50 inner nuclear membrane RNA-binding protein	UNC50	25972	ENSG00000115446			Unc50 (MGI:1914637)
chr2	98619106	98731132	2q12	2q11.2	604623	MGAT4A	Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	MGAT4A	11320	ENSG00000071073			Mgat4a (MGI:2662992)
chr2	98997261	99154966	2q11.2	2q11.2	607166	TSGA10, SPGF26	Testis-specific protein 10	TSGA10	80705	ENSG00000135951	mutation identified in 1 SPGF26	?Spermatogenic failure 26, 617961 (3), Autosomal recessive	Tsga10 (MGI:2685063)
chr2	99154967	99163137	2q11.2	2q11.2	610284	LIPT1, LIPT1D	Lipoyltransferase 1	LIPT1	51601	ENSG00000144182		Lipoyltransferase 1 deficiency, 616299 (3), Autosomal recessive	Lipt1 (MGI:3645211)
chr2	99181184	99199561	2q11.2	2q11.2	611838	MRPL30, MRPL28	Mitochondrial ribosomal protein L30	MRPL30	51263	ENSG00000185414			Mrpl30 (MGI:1333820)
chr2	99242246	99261522	2q11.2	2q11.2	616547	LYG2, LYSG2	Lysozyme G-like 2	LYG2	254773	ENSG00000185674			Lyg2 (MGI:2685622)
chr2	99284238	99304775	2q11.2	2q11.2	621066	LYG1	Lysozyme G1	LYG1	129530	ENSG00000144214			Lyg1 (MGI:1916791)
chr2	99306184	99336333	2q11.2	2q11.2	612564	TXNDC9, PHLP3	Thioredoxin domain-containing protein 9	TXNDC9	10190	ENSG00000115514			Txndc9 (MGI:2138153)
chr2	99337389	99401326	2q11.2	2q11.2	606086	EIF5B, IF2, KIAA0741	Eukaryotic translation initiation factor 5B	EIF5B	9669	ENSG00000158417			Eif5b (MGI:2441772)
chr2	99400477	99490202	2q11.2	2q11.2	606134	REV1L, REV1	REV1 DNA directed polymerase	REV1	51455	ENSG00000135945			Rev1 (MGI:1929074)
chr2	99545419	100142590	2q11.2	2q11.2	601464	AFF3, LAF4, KINS	AF4/FMR2 family, member 3	AFF3	3899	ENSG00000144218		KINSSHIP syndrome, 619297 (3), Autosomal dominant	Aff3 (MGI:106927)
chr2	100391860	100417668	2q11.2	2q11.2	606376	CHST10, HNK1ST	Carbohydrate sulfotransferase 10	CHST10	9486	ENSG00000115526			Chst10 (MGI:2138283)
chr2	100470482	100483280	2q11.2	2q11.2	619337	NMS	Neuromedin S	NMS	129521	ENSG00000204640			Nms (MGI:3583618)
chr2	100562993	100576739	2q11.2	2q11.2	611678	PDCL3, PHLP3, VIAF	Phosducin-like 3	PDCL3	79031	ENSG00000115539			Pdcl3 (MGI:1916083)
chr2	100818723	100996829	2q13	2q11.2	603347	NPAS2, MOP4	Neuronal PAS domain protein 2	NPAS2	4862	ENSG00000170485			Npas2 (MGI:109232)
chr2	101002289	101019724	2q11.2	2q11.2	617415	RPL31	Ribosomal protein L31	RPL31	6160	ENSG00000071082			Rpl31 (MGI:2149632)
chr2	101252886	101270316	2q11.2	2q11.2	620509	CNOT11, C2orf29	CCR4-NOT transcription complex, subunit 11	CNOT11	55571	ENSG00000158435			Cnot11 (MGI:106580)
chr2	101345550	101387503	2q11.2	2q11.2	618540	CREG2	Cellular repressor of E1A-stimulated genes 2	CREG2	200407	ENSG00000175874			Creg2 (MGI:1928333)
chr2	101697707	101894690	2q11.2	2q11.2	604666	MAP4K4, HGK, NIK, KIAA0687	Mitogen-activated protein kinase kinase kinase kinase 4	MAP4K4	9448	ENSG00000071054			Map4k4 (MGI:1349394)
chr2	101991960	102028544	2q12-q22	2q11.2	147811	IL1R2, IL1RB	Interleukin-1 receptor, type II	IL1R2	7850	ENSG00000115590			Il1r2 (MGI:96546)
chr2	102070390	102179874	2q12	2q11.2-q12.1	147810	IL1R1, IL1RA, CRMO3	Interleukin-1 receptor, type I	IL1R1	3554	ENSG00000115594	mutation identified in 1 CRMO3 patient	?Chronic recurrent multifocal osteomyelitis 3, 259680 (3), Autosomal dominant	Il1r1 (MGI:96545)
chr2	102100001	129100000	2q12-q14		147185	IGKV1OR2-108, IGO1	Immunoglobulin orphon (transposed element) 1		28862				Igkv12-38,Igkv12-41,Igkv12-44,Igkv15-103,Igkv16-104,Igkv9-123 (MGI:2685913,MGI:3643848,MGI:4439614,MGI:4439772,MGI:4439775,MGI:96513)
chr2	102100001	105300000	2q12.1		617071	LNC13	Long noncoding RNA 13						
chr2	102186973	102243086	2q12	2q12.1	604512	IL1RL2, IL1RRP2	Interleukin 1 receptor-like 2	IL1RL2	8808	ENSG00000115598			Il1rl2 (MGI:1913107)
chr2	102311563	102352356	2q11.2	2q12.1	601203	IL1RL1	Interleukin 1 receptor-like 1	IL1RL1	9173	ENSG00000115602			Il1rl1 (MGI:98427)
chr2	102355796	102398776	2q12	2q12.1	604494	IL18R1, IL1RRP	Interleukin 18 receptor 1	IL18R1	8809	ENSG00000115604			Il18r1 (MGI:105383)
chr2	102418621	102452565	2q12	2q12.1	604509	IL18RAP, ACPL	Interleukin 18 receptor accessory protein	IL18RAP	8807	ENSG00000115607			Il18rap (MGI:1338888)
chr2	102473226	102533972	2q12.1	2q12.1	600531	SLC9A4, NHE4	Solute carrier family 9 (sodium/hydrogen exchanger), member 4	SLC9A4	389015	ENSG00000180251			Slc9a4 (MGI:105074)
chr2	102619553	102711355	2q11.2	2q12.1	600530	SLC9A2	Solute carrier family 9 (sodium/hydrogen exchanger), member 2	SLC9A2	6549	ENSG00000115616			Slc9a2 (MGI:105075)
chr2	102714630	102736888	2q12.1	2q12.1	620301	MFSD9	Major facilitator superfamily domain-containing protein 9	MFSD9	84804	ENSG00000135953			Mfsd9 (MGI:2443548)
chr2	104805425	104853183	2q12.1	2q12.1	618169	PANTR1, LINC01158	POU3F3-adjacent noncoding transcript 1	PANTR1	100506421	ENSG00000233639			Pantr1 (MGI:1913547)
chr2	104854115	104858574	2q12.1	2q12.1	602480	POU3F3, SNIBFIS	POU domain, class 3, transcription factor-3	POU3F3	5455	ENSG00000198914		Snijders Blok-Fisher syndrome, 618604 (3), Autosomal dominant	Pou3f3 (MGI:102564)
chr2	104865497	104872595	2q12.1	2q12.1	618208	LINC01159, LINC-BRN1B	Long intergenic noncoding RNA 1159	LINC01159	102682016	ENSG00000229743			
chr2	105038069	105099960	2q12.1	2q12.1	611975	MRPS9	Mitochondrial ribosomal protein S9	MRPS9	64965	ENSG00000135972			Mrps9 (MGI:1916777)
chr2	105241743	105243467	2q11.2-q12	2q12.1	604838	GPR45	G protein-coupled receptor 45	GPR45	11250	ENSG00000135973			Gpr45 (MGI:2135882)
chr2	105249404	105329735	2q12.1	2q12.1-q12.2	606237	TGFBRAP1, TRAP1	Transforming growth factor-beta receptor-associated protein 1	TGFBRAP1	9392	ENSG00000135966			Tgfbrap1 (MGI:2447427)
chr2	105357712	105438529	2q12-q14	2q12.2	602633	FHL2, DRAL	Four and a half LIM domains-2 (Down-regulated in rhabdomyosarcoma LIM protein)	FHL2	2274	ENSG00000115641			Fhl2 (MGI:1338762)
chr2	105744453	105894272	2q12	2q12.2	604930	NCK2	NCK adaptor protein 2	NCK2	8440	ENSG00000071051			Nck2 (MGI:1306821)
chr2	106063241	106078155	2q14.1-q14.3	2q12.2	611752	ECRG4, C2orf40	ECRG4 augurin precursor	ECRG4	84417	ENSG00000119147			Ecrg4 (MGI:1926146)
chr2	106093311	106194301	2q12	2q12.2	609749	UXS1, UGD	UDP-glucuronate decarboxylase 1	UXS1	80146	ENSG00000115652			Uxs1 (MGI:1915133)
chr2	106382114	106391395	2q12.2	2q12.2	612212	PLGLA, PRGA	Plasminogen-like A	PLGLA	285189				
chr2	106403406	106470935	2q12.3-q13	2q12.2	612706	RGPD3, RGP3	RANBP2-like and GRIP domain-containing protein 3	RGPD3	653489	ENSG00000153165			Ranbp2 (MGI:894323)
chr2	106700001	112200000	2q12.3-q13		612710	RGPD7, RGP7	RANBP2-like and GRIP domain-containing protein 7						
chr2	106801600	106887277	2q11.2-q12.1	2q12.3	608472	ST6GALII, KIAA1877	Beta-galactoside alpha-2,6-sialyltransferase II	ST6GAL2	84620	ENSG00000144057			St6gal2 (MGI:2445190)
chr2	107826892	107892544	2q12.3-q13	2q12.3	612707	RGPD4, RGP4	RANBP2-like and GRIP domain-containing protein 4	RGPD4	285190	ENSG00000196862			Ranbp2 (MGI:894323)
chr2	107986524	108013994	2q12.3	2q12.3	608761	SLC5A7, CHT1, HMND7, CMS20	Solute carrier family 5 (choline transporter), member 7	SLC5A7	60482	ENSG00000115665		Neuronopathy, distal hereditary motor, autosomal dominant 7, 158580 (3), Autosomal dominant; Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive	Slc5a7 (MGI:1927126)
chr2	108239968	108265351	2q12.2	2q12.3	617151	SULT1C3	Sulfotransferase family 1C, member 3	SULT1C3	442038	ENSG00000196228			Sult1c1 (MGI:102928)
chr2	108288895	108309915	2q11.1-q11.2	2q12.3	602385	SULT1C1	Sulfotransferase 1C1	SULT1C2	6819	ENSG00000198203			Sult1c2 (MGI:1916333)
chr2	108377954	108388989	2q11.2	2q12.3	608357	SULT1C2	Sulfotransferase family 1C, member 2	SULT1C4	27233	ENSG00000198075			Sult1c1 (MGI:102928)
chr2	108449206	108509415	2q12.3	2q12.3	612711	GCC2, GCC185, KIAA0336	GRIP and coiled-coil domains-containing protein 2	GCC2	9648	ENSG00000135968			Gcc2 (MGI:1917547)
chr2	108533671	108687246	2q12.3	2q12.3	602567	LIMS1, PINCH1	LIM zinc finger-containing protein 1	LIMS1	3987	ENSG00000169756			Lims1 (MGI:1195263)
chr2	108700001	112200000	2q13		257550	COMA	Cogan-type congenital oculomotor apraxia		266710		independent gene or feature of nephronophthisis	Oculomotor apraxia, congenital, Cogan-type, 257550 (2), Autosomal recessive	
chr2	108719482	109842301	2q11-q13	2q13	601181	RANBP2, NUP358, ANE1, IIAE3	RAN-binding protein 2	RANBP2	5903	ENSG00000153201		{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3), Autosomal dominant	Ranbp2 (MGI:894323)
chr2	108894471	108989220	2q11-q13	2q13	604095	EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B	Ectodysplasin 1, anhidrotic receptor (downless, mouse, homolog of)	EDAR	10913	ENSG00000135960		[Hair morphology 1, hair thickness], 612630 (3); Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3), Autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3), Autosomal recessive	Edar (MGI:1343498)
chr2	109129205	109504634	2q13	2q13	618933	SH3RF3, POSH2	SH3 domain-containing RING finger protein 3	SH3RF3	344558	ENSG00000172985			Sh3rf3 (MGI:2444637)
chr2	109542799	109613966	2q13	2q13	611737	SEPT10	Septin 10	SEPTIN10	151011	ENSG00000186522	pseudogene on 8q22.1-q12		Septin10 (MGI:1918110)
chr2	109760618	109857705	2q12.3-q13	2q13	612708	RGPD5, RGP5, BS63	RANBP2-like and GRIP domain-containing protein 5	RGPD5	84220	ENSG00000015568			Ranbp2 (MGI:894323)
chr2	110083870	110118139	2q13	2q13	602022	MALL, BENE	mal, T-cell differentiation protein-like	MALL	7851	ENSG00000144063			Mall (MGI:2385152)
chr2	110123348	110205013	2q13	2q13	607100	NPHP1, NPH1, SLSN1, JBTS4	Nephrocystin	NPHP1	4867	ENSG00000144061		Joubert syndrome 4, 609583 (3), Autosomal recessive; Nephronophthisis 1, juvenile, 256100 (3), Autosomal recessive; Senior-Loken syndrome-1, 266900 (3), Autosomal recessive	Nphp1 (MGI:1858233)
chr2	110211529	110212547	2q13	2q13	620770	MTLN, MOXI, TILR	Mitoregulin	MTLN	205251	ENSG00000175701			Mtln (MGI:1915135)
chr2	110513802	110611056	2q12.3-q13	2q13	612709	RGPD6, RGP6	RANBP2-like and GRIP domain-containing protein 6	RGPD6	729540	ENSG00000183054			Ranbp2 (MGI:894323)
chr2	110637528	110678063	2q14	2q13	602452	BUB1, MCPH30	BUB1 mitotic checkpoint serine/threonine kinase	BUB1	699	ENSG00000169679		Colorectal cancer with chromosomal instability, somatic, 114500 (3); Microcephaly 30, primary, autosomal recessive, 620183 (3), Autosomal recessive	Bub1 (MGI:1100510)
chr2	111120914	111168445	2q13	2q13	603827	BCL2L11, BIM	BCL2-like 11	BCL2L11	10018	ENSG00000153094			Bcl2l11 (MGI:1197519)
chr2	111195866	111495161	2q13	2q13	617144	MIR4435-2HG, MORRBID	MIR4435-2 host gene (long noncoding RNA MORRBID)	MIR4435-2HG	541471	ENSG00000172965			Morrbid (MGI:3652191)
chr2	111766231	111884193	2q13	2q13	608473	ANAPC1, APC1	Anaphase-promoting complex, subunit 1	ANAPC1	64682	ENSG00000153107		Rothmund-Thomson syndrome, type 1, 618625 (3), Autosomal recessive	Anapc1 (MGI:103097)
chr2	111898607	112029561	2q14.1	2q13	604705	MERTK, RP38	Mer tyrosine kinase protooncogene	MERTK	10461	ENSG00000153208		Retinitis pigmentosa 38, 613862 (3), Autosomal recessive	Mertk (MGI:96965)
chr2	112055269	112119314	2q13	2q13	617203	TMEM87B	Transmembrane protein 87B	TMEM87B	84910	ENSG00000153214			Tmem87b (MGI:1919727)
chr2	112138385	112244708	2q13	2q13-q14.1	611551	FBLN7, TM14	Fibulin 7	FBLN7	129804	ENSG00000144152			Fbln7 (MGI:1917620)
chr2	112200001	118100000	2q14.1		612459	BMIQ13	Body mass index quantitative trait locus 13		100233157		associated with rs7566605	[Body mass index QTL13], 612459 (2)	
chr2	112200001	147900000	2q14-q22		604288	CMD1H	Cardiomyopathy, dilated, 1H		23459			Cardiomyopathy, dilated, 1H, 604288 (2)	
chr2	112200001	129100000	2q14		619217	ENDOVESL	ENDOVE syndrome, limb-only type					ENDOVE syndrome, limb-only type, 619217 (4), Autosomal recessive	
chr2	112200001	136100000	2q14-q21		165320	LCO	Liver cancer oncogene						
chr2	112200001	136100000	2q14-q21		164755	VIS1, HIS1	Viral integration site 1		7435				
chr2	112368369	112433645	2q12.3-q13	2q14.1	602752	RGPD8, RGP8, RANBP2L1	RANBP2-like and GRIP domain-containing protein 8	RGPD8	727851	ENSG00000169629			Ranbp2 (MGI:894323)
chr2	112482156	112541739	2q13	2q14.1	608291	TTL	Tubulin-tyrosine ligase	TTL	150465	ENSG00000114999			Ttl (MGI:1916987)
chr2	112542036	112579818	2q14.1	2q14.1	602000	POLR1B, TCS4	Polymerase I, RNA, subunit B	POLR1B	84172	ENSG00000125630		Treacher-Collins syndrome 4, 618939 (3), Autosomal dominant	Polr1b (MGI:108014)
chr2	112584447	112589040	2q14.1	2q14.1	616978	CHCHD5, MIC14	Coiled coil-helix-coiled coil-helix domain-containing protein 5	CHCHD5	84269	ENSG00000125611			Chchd5 (MGI:1913420)
chr2	112645939	112663825	2q11-q14	2q14.1	137570	SLC20A1, GLVR1	Solute carrier family 20, phosphate transporter, member 1 (Gibbon ape leukemia virus receptor-1)	SLC20A1	6574	ENSG00000144136			Slc20a1 (MGI:108392)
chr2	112736349	112764609	2q13	2q14.1	616174	CKAP2L, RADMIS	Cytoskeleton-associated protein 2-like	CKAP2L	150468	ENSG00000169607		Filippi syndrome, 272440 (3), Autosomal recessive	Ckap2l (MGI:1917716)
chr2	112773925	112784493	2q14	2q14.1	147760	IL1A	Interleukin-1, alpha	IL1A	3552	ENSG00000115008	within 430kb of IL1B, IL1RN		Il1a (MGI:96542)
chr2	112829751	112836779	2q14	2q14.1	147720	IL1B	Interleukin-1, beta	IL1B	3553	ENSG00000125538	within 430kb of IL1RN, IL1A	{Gastric cancer risk after H. pylori infection}, 613659 (3)	Il1b (MGI:96543)
chr2	112911165	112918882	2q12.1	2q14.1	605510	IL37, IL1F7, FIL1Z, IL1H4, IL1RP1, IBD31	Interleukin 37	IL37	27178	ENSG00000125571	mutation identified in 1 IBD31 patient	?Inflammatory bowel disease (infantile ulcerative colitis) 31, 619398 (3), Autosomal recessive	
chr2	112978006	112985658	2q13	2q14.1	605542	IL36G, IL1F9, IL1H1, IL1RP2	Interleukin 36, gamma	IL36G	56300	ENSG00000136688			Il36g (MGI:2449929)
chr2	113005459	113011072	2q13	2q14.1	605509	IL36A, IL1F6, FIL1E	Interleukin 36, alpha	IL36A	27179	ENSG00000136694			Il36a (MGI:1859324)
chr2	113022089	113052867	2q13	2q14.1	605508	IL36B, IL1F8, IL1H2, FIL1H	Interleukin 36, beta	IL36B	27177	ENSG00000136696			Il36b (MGI:1916927)
chr2	113058638	113064744	2q13	2q14.1	605507	IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP, PSORS14	Interleukin 36 receptor antagonist	IL36RN	26525	ENSG00000136695		Psoriasis 14, pustular, 614204 (3), Autosomal recessive	Il36rn (MGI:1859325)
chr2	113067970	113075843	2q14	2q14.1	615296	IL1F10, IL1HY2	Interleukin 1 family, member 10	IL1F10	84639	ENSG00000136697			Il1f10 (MGI:2652548)
chr2	113099360	113134014	2q14.2	2q14.1	147679	IL1RN, MVCD4, DIRA, CRMO2	Interleukin-1 receptor antagonist	IL1RN	3557	ENSG00000136689		Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, 612852 (3), Autosomal recessive; {Gastric cancer risk after H. pylori infection}, 613659 (3); {Microvascular complications of diabetes 4}, 612628 (3); Interleukin 1 receptor antagonist deficiency, 612852 (3), Autosomal recessive	Il1rn (MGI:96547)
chr2	113173971	113209391	2q13	2q14.1	614442	PSD4, EFA6B, TIC	Pleckstrin and Sec7 domains-containing protein 4	PSD4	23550	ENSG00000125637			Psd4 (MGI:2674093)
chr2	113215997	113278921	2q12-q14	2q14.1	167415	PAX8	Paired box homeotic gene-8	PAX8	7849	ENSG00000125618		Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3), Autosomal dominant	Pax8 (MGI:97492)
chr2	113437691	113496204	2q13-q14.1	2q14.1	611079	CBWD2	Cobalamin synthetase W domain-containing protein 2	ZNG1B	150472	ENSG00000136682			Zng1 (MGI:2385089)
chr2	113498665	113501150	2q13-q14.1	2q14.1	611084	FOXD4L1	Forkhead box D4-like 1	FOXD4L1	200350	ENSG00000184492			Foxd4 (MGI:1347467)
chr2	113627266	113643392	2q13	2q14.1	605412	RABL2A	RAB-like 2A	RABL2A	11159	ENSG00000144134			Rabl2 (MGI:1915958)
chr2	113702682	113756642	2q14.1	2q14.1	619997	SLC35F5	Solute carrier family 35, member F5	SLC35F5	80255	ENSG00000115084			Slc35f5 (MGI:1921400)
chr2	113889934	113962596	2q14.1	2q14.1	604222	ACTR3, ARP3	Actin-related protein 3	ACTR3	10096	ENSG00000115091			Actr3 (MGI:1921367)
chr2	114442641	115845780	2q12.3-q14.2	2q14.1	608209	DPP10, DPRP3, KIAA1492	Dipeptidyl peptidase X	DPP10	57628	ENSG00000175497			Dpp10 (MGI:2442409)
chr2	117814691	117832377	2q14.1	2q14.1	606355	DDX18	DEAD-box helicase 18	DDX18	8886	ENSG00000088205			Ddx18 (MGI:1914192)
chr2	117915481	118014070	2q14	2q14.1	620553	CCDC93	Coiled-coil domain-containing protein 93	CCDC93	54520	ENSG00000125633			Ccdc93 (MGI:1918079)
chr2	118088471	118110997	2q14.1	2q14.1-q14.2	608660	INSIG2	Insulin-induced gene 2	INSIG2	51141	ENSG00000125629			Insig2 (MGI:1920249)
chr2	118182922	118186386	2q14.2	2q14.2	619296	THORLNC	Testis-associated oncogenic long noncoding RNA	THORLNC	100506797	ENSG00000226856			
chr2	118842171	118847648	2q14.2	2q14.2	131290	EN1, ENDOVESLB	Engrailed-1	EN1	2019	ENSG00000163064	mutation identified in 1 ENDOVESLB patient	?ENDOVE syndrome, limb-brain type, 619218 (3), Autosomal recessive	En1 (MGI:95389)
chr2	118942194	118994660	2q12-q13	2q14.2	604870	MARCO	Macrophage receptor with collagenous structure	MARCO	8685	ENSG00000019169			Marco (MGI:1309998)
chr2	119156243	119158751	2q14.2	2q14.2	614330	C1QL2, CTRP10, C1QTNF10	Complement component 1, q subcomponent-like 2	C1QL2	165257	ENSG00000144119			C1ql2 (MGI:3032521)
chr2	119223834	119265652	2q14.2	2q14.2	609671	STEAP3, TSAP6, AHMIO2	STEAP3 metalloreductase	STEAP3	55240	ENSG00000115107	mutation identified in 1 AHMIO2 family	?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3), Autosomal dominant	Steap3 (MGI:1915678)
chr2	119366977	119372543	2q12-q21	2q14.2	125950	DBI	Diazepam-binding inhibitor	DBI	1622	ENSG00000155368	?on 6q21-qter		Dbi (MGI:94865)
chr2	119429895	119438504	2q14.1	2q14.2	618831	TMEM37	Transmembrane protein 37	TMEM37	140738	ENSG00000171227			Tmem37 (MGI:2157899)
chr2	119439843	119524483	2q14.1	2q14.2	182098	SCTR	Secretin receptor	SCTR	6344	ENSG00000080293			Sctr (MGI:2441720)
chr2	119544449	119660323	2q14.2	2q14.2	618704	CFAP221, PCDP1	Cilia- and flagella-associated protein 221	CFAP221	200373	ENSG00000163075			Cfap221 (MGI:2684947)
chr2	119679201	119723618	2q14.2	2q14.2	620752	TMEM177	Transmembrane protein 177	TMEM177	80775	ENSG00000144120			Tmem177 (MGI:1913593)
chr2	119759922	119984899	2q14.2	2q14.2	176878	PTPN4, PTPMEG1	Protein-tyrosine phosphatase, nonreceptor-type, 4	PTPN4	5775	ENSG00000088179			Ptpn4 (MGI:1099792)
chr2	120013077	120179119	2q14	2q14.2	611730	EPB41L5, KIAA1548	Erythrocyte membrane protein band 4.1-like 5	EPB41L5	57669	ENSG00000115109			Epb41l5 (MGI:103006)
chr2	120240070	120294710	2q14.2	2q14.2	179551	RALB	RAS-like protooncogene B	RALB	5899	ENSG00000144118			Ralb (MGI:1927244)
chr2	120346136	120351803	2cen-q13	2q14.2	147390	INHBB	Inhibin, beta-2	INHBB	3625	ENSG00000163083			Inhbb (MGI:96571)
chr2	120735868	120992653	2q14	2q14.2	165230	GLI2, HPE9, CJS	GLI-Kruppel family member GLI2 (oncogene GLI2)	GLI2	2736	ENSG00000074047		Culler-Jones syndrome, 615849 (3), Autosomal dominant; Holoprosencephaly 9, 610829 (3), Autosomal dominant	Gli2 (MGI:95728)
chr2	121216587	121285202	2q14	2q14.2	609785	TFCP2L1, CRTR1, LBP9	Transcription factor CP2-like 1	TFCP2L1	29842	ENSG00000115112			Tfcp2l1 (MGI:2444691)
chr2	121337776	121649462	2q14	2q14.2-q14.3	605852	CLASP1, KIAA0622	CLIP-associated protein 1	CLASP1	23332	ENSG00000074054			Clasp1 (MGI:1923957)
chr2	121530880	121531009	2q14.2	2q14.2	601428	RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN, LWS	RNA, U4ATAC small nuclear	RNU4ATAC	100151683	ENSG00000264229		Roifman syndrome, 616651 (3), Autosomal recessive; Lowry-Wood syndrome, 226960 (3), Autosomal recessive; Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3), Autosomal recessive	
chr2	121600001	136100000	2q14.3-q21.3		614588	DYT21	Dystonia 21		100885773			Dystonia 21, 614588 (2), Autosomal dominant	
chr2	121726945	121736875	2q14.3	2q14.3	611970	NIFK, MKI67IP, NOPP34	Nucleolar protein interacting with the FHA domain of MKI67	NIFK	84365	ENSG00000155438			Nifk (MGI:1915199)
chr2	121755651	121767853	2q21.1	2q14.3	600575	TSN	Translin	TSN	7247	ENSG00000211460			Tsn (MGI:109263)
chr2	124025287	124921219	2q14	2q14.3	610519	CNTNAP5, CASPR5	Contactin-associated protein-like 5	CNTNAP5	129684	ENSG00000155052			Cntnap5a,Cntnap5b,Cntnap5c (MGI:3643623,MGI:3646013,MGI:3664583)
chr2	126656158	126696667	2q14-q21	2q14.3	110750	GYPC, GE, GPC	Glycophorin C	GYPC	2995	ENSG00000136732		[Blood group, Gerbich], 616089 (3); {Malaria, resistance to}, 611162 (3)	Gypc (MGI:1098566)
chr2	127048023	127107154	2q14	2q14.3	601248	BIN1, AMPHL, CNM2	Box-dependent MYC-interacting protein-1 (amphiphysin-like)	BIN1	274	ENSG00000136717		Centronuclear myopathy 2, 255200 (3), Autosomal recessive	Bin1 (MGI:108092)
chr2	127183832	127220299	2q14.3	2q14.3	620605	CYP27C1	Cytochrome P450, family 2, subfamily C, member 1	CYP27C1	339761	ENSG00000186684			
chr2	127257290	127294144	2q21	2q14.3	133510	ERCC3, XPB, TTD2	ERCC excision repair 3, TFIIH core complex helicase subunit	ERCC3	2071	ENSG00000163161		Trichothiodystrophy 2, photosensitive, 616390 (3), Autosomal recessive; Xeroderma pigmentosum, group B, 610651 (3), Autosomal recessive	Ercc3 (MGI:95414)
chr2	127298668	127388465	2q14.3	2q14.3	609487	MAP3K2, MEKK2	Mitogen-activated protein kinase kinase kinase 2	MAP3K2	10746	ENSG00000169967			Map3k2 (MGI:1346873)
chr2	127418427	127429242	2q13-q14	2q14.3	612283	PROC, PC, THPH3, THPH4	Protein C (inactivator of coagulation factors Va and VIIIa)	PROC	5624	ENSG00000115718		Thrombophilia 3 due to protein C deficiency, autosomal dominant, 176860 (3), Autosomal dominant; Thrombophilia 3 due to protein C deficiency, autosomal recessive, 612304 (3), Autosomal recessive	Proc (MGI:97771)
chr2	127535683	127637726	2q21.1	2q14.3	606541	MYO7B	Myosin VIIb	MYO7B	4648	ENSG00000169994			Myo7b (MGI:107709)
chr2	127638426	127681786	2q14.3	2q14.3	607908	LIMS2, PINCH2, MDRCMTT	LIM zinc finger domain-containing protein 2	LIMS2	55679	ENSG00000072163	mutation identified in 1 LGMD2W family	?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3), Autosomal recessive	Lims2 (MGI:2385067)
chr2	127646153	127652639	2q21	2q14.3	603071	GPR17	G protein-coupled receptor-17	GPR17	2840	ENSG00000144230			Gpr17 (MGI:3584514)
chr2	127701027	127811171	2q14.2	2q14.3	618082	WDR33, WDC146	WD repeat-containing protein 33	WDR33	55339	ENSG00000136709			Wdr33 (MGI:1921570)
chr2	127843553	127858155	2q14.3	2q14.3	606017	POLR2D	Polymerase II, RNA, subunit D	POLR2D	5433	ENSG00000144231			Polr2d (MGI:1916491)
chr2	127941222	128028059	2q14.3	2q14.3	609697	SAP130	Sin3A-associated protein, 130kD	SAP130	79595	ENSG00000136715			Sap130 (MGI:1919782)
chr2	128091200	128195677	2q14.3	2q14.3	605897	UGGT1, HUGT1	UDP-glucose glycoprotein glucosyltransferase 1	UGGT1	56886	ENSG00000136731			Uggt1 (MGI:2443162)
chr2	128265480	128318868	2q21	2q14.3	604846	HS6ST1, HS6ST, HH15	Heparan sulfate 6-O-sulfotransferase 1	HS6ST1	9394	ENSG00000136720		{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3), Autosomal dominant	Hs6st1 (MGI:1354958)
chr2	129100001	131700000	2q21.1		612311	ADHD5	Attention deficit-hyperactivity disorder, susceptibility to, 5		100190790		max lod at rs985162	{Attention deficit-hyperactivity disorder, susceptibility to, 5}, 612311 (2)	
chr2	129100001	147900000	2q21.1-q22		608316	CHDS2	Coronary heart disease, susceptibility to, 2		387584			{Coronary heart disease, susceptibility to, 2}, 608316 (2)	
chr2	129100001	136100000	2q21		606240	NMTC3	Nonmedullary thyroid carcinoma 3		114568			{Thyroid carcinoma, nonmedullary, 3}, 606240 (2), Autosomal dominant	
chr2	129979666	129982738	2q21.1	2q21.1	612909	RAB6C, WTH3	Ras-associated protein RAB6C	RAB6C	84084	ENSG00000222014			
chr2	130151392	130181757	2q21.1	2q21.1	610457	SMPD4, NSMASE3, KIAA1418, NEDMABA	Sphingomyelin phosphodiesterase 4, neutral membrane	SMPD4	55627	ENSG00000136699		Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, 618622 (3), Autosomal recessive	Smpd4 (MGI:1924876)
chr2	130181654	130204793	2q21.1	2q21.1	613450	MZT2B, FAM128B, MOZART2B	Mitotic spindle organizing protein 2B	MZT2B	80097	ENSG00000152082			Mzt2 (MGI:1922845)
chr2	130191745	130198439	2q21.1	2q21.1	619918	TUBA3E	Tubulin, alpha-3E	TUBA3E	112714	ENSG00000152086			Tuba3a,Tuba3b (MGI:1095406,MGI:1095408)
chr2	130337933	130342681	2q21.2	2q21.1	613734	CCDC115, CCP1, CDG2O	Coiled-coil domain-containing protein 115	VMA22	84317	ENSG00000136710		Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive	Ccdc115 (MGI:1916918)
chr2	130342897	130347967	2q21.1	2q21.1	612981	IMP4, BXDC4	IMP U3 small nucleolar ribonucleoprotein 4	IMP4	92856	ENSG00000136718			Imp4 (MGI:106572)
chr2	130356056	130375405	2q21.1	2q21.1	606587	PTPN18, BDP1	Protein-tyrosine phosphatase, nonreceptor-type, 18	PTPN18	26469	ENSG00000072135			Ptpn18 (MGI:108410)
chr2	130592165	130599575	2q21.1	2q21.1	605194	CFC1, CRYPTIC, HTX2	Cryptic protein	CFC1	55997	ENSG00000136698		Heterotaxy, visceral, 2, autosomal, 605376 (3), Autosomal dominant	Cfc1 (MGI:109448)
chr2	130836914	131047253	2q22	2q21.1	605216	ARHGEF4, ASEF	RHO guanine nucleotide exchange factor 4	ARHGEF4	50649	ENSG00000136002			Arhgef4 (MGI:2442507)
chr2	131047876	131093460	2q21.1	2q21.1	620078	FAM168B, MANI	Family with sequence similarity 168, member B	FAM168B	130074	ENSG00000152102			Fam168b (MGI:2448487)
chr2	131105336	131149845	2q21.1	2q21.1	618452	PLEKHB2, EVT2	Pleckstrin homology domain-containing protein, family B, member 2	PLEKHB2	55041	ENSG00000115762			Plekhb2 (MGI:2385825)
chr2	131209536	131265278	2q21.1	2q21.1	608914	POTEE, POTE2	POTE ankyrin domain family, member E	POTEE	445582	ENSG00000188219	5 POTE2 genes within 2Mb segment		Potefam1 (MGI:1914825)
chr2	131469728	131493754	2q21.1	2q21.1	613449	FAM128A, MOZART2A	Family with sequence similarity 128, member A	MZT2A	653784	ENSG00000173272			Mzt2 (MGI:1922845)
chr2	131476119	131482934	2q21.1	2q21.1	617878	TUBA3D, KTCN9	Tubulin, alpha-3D	TUBA3D	113457	ENSG00000075886		Keratoconus 9, 617928 (3), Autosomal dominant	Tuba3a,Tuba3b (MGI:1095406,MGI:1095408)
chr2	131592042	131626429	2q21.1	2q21.1	611266	POTEKP, ACT, ACTBL3, POTEK, FKSG30	POTE ankyrin domain family, member K, pseudogene	POTEKP	440915				
chr2	132416805	132646582	2q21-q22	2q21.2	602886	GPR39	G protein-coupled receptor-39	GPR39	2863	ENSG00000183840			Gpr39 (MGI:1918361)
chr2	132643286	132671526	2q21.2	2q21.2	610450	LYPD1, PHTS	LY6/PLAUR domain-containing protein 1	LYPD1	116372	ENSG00000150551			Lypd1 (MGI:1919835)
chr2	132671788	133674836	2q21.2	2q21.2	608789	NCKAP5, NAP5	NCK-associated protein 5	NCKAP5	344148	ENSG00000176771			Nckap5 (MGI:2686394)
chr2	134119935	134454621	2q21	2q21.2-q21.3	601774	MGAT5	Mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl- glucosaminyltransferase	MGAT5	4249	ENSG00000152127			Mgat5 (MGI:894701)
chr2	134455759	134719000	2q21.3	2q21.3	618978	TMEM163, SV31, HLD25	Transmembrane protein 163	TMEM163	81615	ENSG00000152128	REc	Leukodystrophy, hypomyelinating, 25, 620243 (3), Autosomal dominant	Tmem163 (MGI:1919410)
chr2	134838616	134902034	2q21.3	2q21.3	608889	ACMSD	Aminocarboxymuconate semialdehyde decarboxylase	ACMSD	130013	ENSG00000153086			Acmsd (MGI:2386323)
chr2	134918822	134959342	2p14-q21.3	2q21.3	603862	CCNT2	Cyclin T2	CCNT2	905	ENSG00000082258			Ccnt2 (MGI:1920199)
chr2	135052292	135176396	2q21.3	2q21.3	602536	RAB3GAP1, WARBM1, P130, MARTS2	RAB3 GTPase-activating protein, catalytic subunit	RAB3GAP1	22930	ENSG00000115839		Martsolf syndrome 2, 619420 (3), Autosomal recessive; Warburg micro syndrome 1, 600118 (3), Autosomal recessive	Rab3gap1 (MGI:2445001)
chr2	135196969	135531218	2q21.3	2q21.3	615655	ZRANB3	Zinc finger RANBP2-type domain-containing protein 3	ZRANB3	84083	ENSG00000121988			Zranb3 (MGI:1918362)
chr2	135531484	135725269	2q21.3	2q21.3	619474	R3HDM1, KIAA0029	R3H domain-containing protein 1	R3HDM1	23518	ENSG00000048991			R3hdm1 (MGI:2448514)
chr2	135665397	135665478	2q21	2q21.3	611774	MIR128-1, MIRN128-1, MIR128A	Micro RNA 128-1	MIR128-1	406915	ENSG00000207654			Mir128-1 (MGI:2676813)
chr2	135741855	135785056	2q21.3-q22.1	2q21.3	611216	UBXN4, UBXD2, KIAA2042, ERASIN	UBX domain protein 4	UBXN4	23190	ENSG00000144224			Ubxn4 (MGI:1915062)
chr2	135787850	135837184	2q21	2q21.3	603202	LCT, LAC, LPH	Lactase (lactase-phlorizin hydrolase)	LCT	3938	ENSG00000115850		Lactase deficiency, congenital, 223000 (3), Autosomal recessive	Lct (MGI:104576)
chr2	135839626	135876443	2q21	2q21.3	601806	MCM6	Minichromosome maintenance complex component 6	MCM6	4175	ENSG00000076003	mutations in introns 9 and 13	Lactase persistence/nonpersistence, 223100 (3), Autosomal dominant	Mcm6 (MGI:1298227)
chr2	135905881	135985684	2q21.3	2q21.3	603084	DARS1, DARS, HBSL	Aspartyl tRNA synthetase 1	DARS1	1615	ENSG00000115866		Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3), Autosomal recessive	Dars1 (MGI:2442544)
chr2	136100001	168900000	2q22-q24		611535	MAFD5	Major affective disorder 5		100188843			{Major affective disorder 5}, 611535 (2)	
chr2	136114349	136118149	2q21	2q22.1	162643	CXCR4, D2S201E, NPY3R, WHIMS1	Chemokine (C-X-C motif) receptor 4 (neuropeptide Y receptor Y3)	CXCR4	7852	ENSG00000121966		WHIM syndrome 1, 193670 (3), Autosomal dominant; Myelokathexis, isolated, 193670 (3), Autosomal dominant	Cxcr4 (MGI:109563)
chr2	137964473	138016364	2q22	2q22.1	605238	HNMT, MRT51	Histamine N-methyltransferase	HNMT	3176	ENSG00000150540		Intellectual developmental disorder, autosomal recessive 51, 616739 (3), Autosomal recessive; {Asthma, susceptibility to}, 600807 (3), Autosomal dominant	Hnmt (MGI:2153181)
chr2	138669157	138780390	2q22.1	2q22.1	604635	NXPH2, NPH2	Neuroxophilin 2	NXPH2	11249	ENSG00000144227			Nxph2 (MGI:107491)
chr2	140231423	142131016	2q22.1-q22.2	2q22.1-q22.2	608766	LRP1B	Low density lipoprotein receptor-related protein 1B	LRP1B	53353	ENSG00000168702			Lrp1b (MGI:2151136)
chr2	142877664	143055833	2q22.2	2q22.2	605197	KYNU, KYNUU, VCRL2	Kynureninase	KYNU	8942	ENSG00000115919	mutation identified in 1 KYNUU family	?Hydroxykynureninuria, 236800 (3), Autosomal recessive; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3), Autosomal recessive	Kynu (MGI:1918039)
chr2	143129419	143768352	2q22.2-q22.3	2q22.2-q22.3	610578	ARHGAP15, BM046	Rho GTPase-activating protein 15	ARHGAP15	55843	ENSG00000075884			Arhgap15 (MGI:1923367)
chr2	143938068	144333069	2q22	2q22.3	610165	GTDC1	Glycosyltransferase-like domain containing 1	GTDC1	79712	ENSG00000121964			Gtdc1 (MGI:2444269)
chr2	144384081	144520119	2q22	2q22.3	605802	ZEB2, ZFHX1B, SMADIP1, SIP1	Zinc finger E box-binding homeobox 2	ZEB2	9839	ENSG00000169554		Mowat-Wilson syndrome, 235730 (3), Autosomal dominant	Zeb2 (MGI:1344407)
chr2	147844517	147930822	2q22.2-q23.3	2q22.3-q23.1	102581	ACVR2A, ACVR2	Activin A receptor, type IIA	ACVR2A	92	ENSG00000121989			Acvr2a (MGI:102806)
chr2	147900001	168900000	2q23-q24.3		603964	DFNA16	Deafness, autosomal dominant 16		1694			Deafness, autosomal dominant 16, 603964 (2), Autosomal dominant	
chr2	147900001	182100000	2q23-q31		605818	DFNB27	Deafness, autosomal recessive 27		23713			Deafness, autosomal recessive 27, 605818 (2), Autosomal recessive	
chr2	147900001	168900000	2q23-q24		613863	GEFSP7, FEB3B	Generalized epilepsy with febrile seizures plus, type 7		120325367		max lod at D2S2330	Generalized epilepsy with febrile seizures plus, type 7, 613863 (2), Autosomal dominant	
chr2	147930396	148021551	2q22-q23	2q23.1	603056	ORC4, ORC4L	Origin recognition complex, subunit 4	ORC4	5000	ENSG00000115947		Meier-Gorlin syndrome 2, 613800 (3), Autosomal recessive	Orc4 (MGI:1347043)
chr2	148020927	148516971	2q23.1	2q23.1	611472	MBD5, KIAA1461, MRD1	Methyl-CpG-binding domain protein 5	MBD5	55777	ENSG00000204406		Intellectual developmental disorder, autosomal dominant 1, 156200 (3), Autosomal dominant	Mbd5 (MGI:2138934)
chr2	148644751	148787569	2q23.1	2q23.1	611000	EPC2	Enhancer of polycomb homolog 2	EPC2	26122	ENSG00000135999			Epc2 (MGI:1278321)
chr2	148875227	149026759	2q23.1	2q23.1-q23.2	604593	KIF5C, NKHC2, CDCBM2	Kinesin family member 5C	KIF5C	3800	ENSG00000168280		Cortical dysplasia, complex, with other brain malformations 2, 615282 (3), Autosomal dominant	Kif5c (MGI:1098269)
chr2	149329985	149486378	2q23.1-q23.2	2q23.2	613359	LYPD6	LY6/PLAUR domain-containing protein 6	LYPD6	130574	ENSG00000187123			Lypd6 (MGI:2443848)
chr2	149569637	149587775	2q23.2	2q23.2	611935	MMADHC, C2orf25, MAHCD, MACD, HMAD	Metabolism of cobalamin associated D	MMADHC	27249	ENSG00000168288		Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3), Autosomal recessive; Methylmalonic aciduria, cblD type, 620953 (3), Autosomal recessive; Homocystinuria-megaloblastic anemia, cblD type, 620952 (3), Autosomal recessive	Mmadhc (MGI:1923786)
chr2	150468193	150487695	2q23.3	2q23.3	602924	RND3, RHOE, ARHE	RHO family GTPase 3	RND3	390	ENSG00000115963			Rnd3 (MGI:1921444)
chr2	151270470	151289668	2q23.3	2q23.3	603525	NMI	NMYC interactor	NMI	9111	ENSG00000123609	previously assigned to 22q13.3		Nmi (MGI:1928368)
chr2	151357592	151381340	2q23.3	2q23.3	600410	TNFAIP6	Tumor necrosis factor, alpha-induced protein-6	TNFAIP6	7130	ENSG00000123610			Tnfaip6 (MGI:1195266)
chr2	151409902	151534435	2q23.3	2q23.3	608952	RIF1	Replication timing regulatory factor 1	RIF1	55183	ENSG00000080345			Rif1 (MGI:1098622)
chr2	151485339	151734476	2q22	2q23.3	161650	NEB, NEM2, AMC6	Nebulin	NEB	4703	ENSG00000183091		Nemaline myopathy 2, autosomal recessive, 256030 (3), Autosomal recessive; Arthrogryposis multiplex congenita 6, 619334 (3), Autosomal recessive	Neb (MGI:97292)
chr2	151798797	151828421	2q23-q24.1	2q23.3	608960	ARL5A	ADP ribosylation factor-like GTPase 5A	ARL5A	26225	ENSG00000162980			Arl5a (MGI:1922673)
chr2	151832771	152099167	2q22-q23	2q23.3	601949	CACNB4, EJM6, EA5, EIG9	Calcium channel, voltage-dependent, beta 4 subunit	CACNB4	785	ENSG00000182389	mutation identified in 1 EA5 family	{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3), Autosomal dominant; ?Episodic ataxia, type 5, 613855 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3), Autosomal dominant	Cacnb4 (MGI:103301)
chr2	152116801	152175763	2q23.3	2q23.3	606244	STAM2	Signal-transducing adaptor molecule 2	STAM2	10254	ENSG00000115145			Stam2 (MGI:1929100)
chr2	152335174	152649826	2q23.3	2q23.3	616285	FMNL2, KIAA1902	Formin-like 2	FMNL2	114793	ENSG00000157827			Fmnl2 (MGI:1918659)
chr2	152651732	152718019	2q23.3	2q23.3	612941	PRPF40A, HYPA, FNBP3, FBP11	Pre-mRNA processing factor 40A	PRPF40A	55660	ENSG00000196504			Prpf40a (MGI:1860512)
chr2	152717648	152762396	2q23.3	2q23.3	616495	ARL6IP6, AIP6	ADP ribosylation factor-like GTPase 6 interacting protein 6	ARL6IP6	151188	ENSG00000177917			Arl6ip6 (MGI:1929507)
chr2	153068293	154456574	2q24.1	2q23.3-q24.1	608369	GALNT13, KIAA1918	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13	GALNT13	114805	ENSG00000144278			Galnt13 (MGI:2139447)
chr2	153477338	153478762	2q23	2q23.3	612171	RPRM	Reprimo	RPRM	56475	ENSG00000177519			Rprm (MGI:1915124)
chr2	154000001	196600000	2q24-q32		612108	FGQTL1	Fasting plasma glucose level QTL 1		100499165		associated with rs560887	[Fasting plasma glucose level QTL 1], 612108 (2)	
chr2	154000001	177100000	2q24.1-q31.1		610295	INTLQ2	Intelligence quantitative trait locus 3		100462723			{Intelligence QTL3}, 610295 (2)	
chr2	154000001	196600000	2q24-q32		156232	MMDK, MDK	Mesomelic dysplasia, Kantaputra type				caused by disruption of the HOXD gene cluster	Mesomelic dysplasia, Kantaputra type, 156232 (4), Autosomal dominant	
chr2	154000001	158900000	2q24.1		612759	SYNSTH	Synesthesia		100301527		max lod at D2S142	Synesthesia, 612759 (2)	
chr2	154698695	154858354	2q24.1	2q24.1	601534	KCNJ3, GIRK1	Potassium inwardly-rectifying channel, subfamily J, member 3	KCNJ3	3760	ENSG00000162989			Kcnj3 (MGI:104742)
chr2	156324437	156332721	2q22-q23	2q24.1	601828	NR4A2, NURR1, NOT, TINUR, IDLDP	Nuclear receptor subfamily 4, group A, member 2	NR4A2	4929	ENSG00000153234		Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, 619911 (3), Autosomal dominant	Nr4a2 (MGI:1352456)
chr2	156400281	156586403	2q24.1	2q24.1	138430	GPD2	Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	GPD2	2820	ENSG00000115159	pseudogene on 19	{Type 2 diabetes mellitus, susceptibility to}, 125853 (3), Autosomal dominant	Gpd2 (MGI:99778)
chr2	157257705	157318491	2q24.2	2q24.1	615129	GALNT5, GALNACT5	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5	GALNT5	11227	ENSG00000136542			Galnt5 (MGI:2179403)
chr2	157318631	157327712	2q24.1	2q24.1	610072	ERMN, JN, KIAA1189	Ermin	ERMN	57471	ENSG00000136541			Ermn (MGI:1925017)
chr2	157414619	157444089	2q11.2	2q24.1	604448	CYTIP, PSCDBP, HE	Cytohesin 1 interacting protein	CYTIP	9595	ENSG00000115165			Cytip (MGI:2183535)
chr2	157526767	157628864	2q24.1	2q24.1	608981	ACVR1C, ALK7	Activin A receptor, type IC	ACVR1C	130399	ENSG00000123612			Acvr1c (MGI:2661081)
chr2	157736446	157876330	2q23-q24	2q24.1	102576	ACVR1, ACVRLK2, ALK2, FOP	Activin A receptor, type I	ACVR1	90	ENSG00000115170		Fibrodysplasia ossificans progressiva, 135100 (3), Autosomal dominant	Acvr1 (MGI:87911)
chr2	157995179	158136154	2q24.1	2q24.1	617340	UPP2	Uridine phosphorylase 2	UPP2	151531	ENSG00000007001			Upp2 (MGI:1923904)
chr2	158456952	158681429	2q23-q31	2q24.1	604276	PKP4	Plakophilin-4	PKP4	8502	ENSG00000144283			Pkp4 (MGI:109281)
chr2	158968640	159232659	2q24.2	2q24.2	611397	TANC1, KIAA1728	Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 1	TANC1	85461	ENSG00000115183			Tanc1 (MGI:1914110)
chr2	159235798	159286703	2q24.2	2q24.2	620802	WDSUB1	WD repeat-, sterile alpha motif-, and U-box domain-containing protein 1	WDSUB1	151525	ENSG00000196151			Wdsub1 (MGI:1919387)
chr2	159315312	159712442	2q23-q24	2q24.2	605683	BAZ2B	Bromodomain adjacent to zinc finger domain, 2B	BAZ2B	29994	ENSG00000123636			Baz2b (MGI:2442782)
chr2	159712506	159771027	2q24.2	2q24.2	613334	MARCH7	Membrane-associated RING-CH finger protein 7	MARCHF7	64844	ENSG00000136536			Marchf7 (MGI:1931053)
chr2	159768628	159798208	2q24	2q24.2	612246	CD302, DCL1, KIAA0022	CD302 antigen	CD302	9936	ENSG00000241399			Cd302 (MGI:1913455)
chr2	159803355	159904756	2q24.2	2q24.2	604524	LY75	Lymphocyte antigen 75	LY75	4065	ENSG00000054219			Ly75 (MGI:106662)
chr2	159923933	160062615	2q23-q24	2q24.2	604939	PLA2R1, PLA2R	Phospholipase A2 receptor 1	PLA2R1	22925	ENSG00000153246			Pla2r1 (MGI:102468)
chr2	160099671	160200272	2q24.2	2q24.2	147558	ITGB6, AI1H	Integrin, beta-6	ITGB6	3694	ENSG00000115221		Amelogenesis imperfecta, type IH, 616221 (3), Autosomal recessive	Itgb6 (MGI:96615)
chr2	160272151	160493807	2q24.2	2q24.2	602310	RBMS1, MSSP, SCR2	RNA-binding motif protein, single strand-interacting, 1	RBMS1	5937	ENSG00000153250			Rbms1 (MGI:1861774)
chr2	161136963	161236230	2q24.2	2q24.2	603893	TANK, ITRAF	TRAF family member-associated NF-Kappa-B activator	TANK	10010	ENSG00000136560			Tank (MGI:107676)
chr2	161308425	161411717	2q24.2	2q24.2	607173	PSMD14, POH1, PAD1	Proteasome 26S subunit, non-ATPase, 14	PSMD14	10213	ENSG00000115233			Psmd14 (MGI:1913284)
chr2	161416297	161425870	2q24.2	2q24.2	604616	TBR1, IDDAS	T-box, brain, 1	TBR1	10716	ENSG00000136535		Intellectual developmental disorder with autism and speech delay, 606053 (3), Autosomal dominant	Tbr1 (MGI:107404)
chr2	161624416	161985270	2q23-q24	2q24.2	605556	SLC4A10, 620746	Solute carrier family 4 (sodium bicarbonate cotransporter-like), member 10	SLC4A10	57282	ENSG00000144290		Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, 620746 (3), Autosomal recessive	Slc4a10 (MGI:2150150)
chr2	161992245	162074215	2q23	2q24.2	102720	DPP4, CD26, ADCP2	Dipeptidylpeptidase IV (CD26; adenosine deaminase complexing protein-2)	DPP4	1803	ENSG00000197635			Dpp4 (MGI:94919)
chr2	162142882	162152247	2q36-q37	2q24.2	138030	GCG	Glucagon	GCG	2641	ENSG00000115263			Gcg (MGI:95674)
chr2	162170684	162243445	2q23	2q24.2	600403	FAP, FAPA	Fibroblast activation protein, alpha subunit	FAP	2191	ENSG00000078098			Fap (MGI:109608)
chr2	162267074	162318684	2q24	2q24.2	606951	IFIH1, MDA5, AGS7, SGMRT1, IMD95	Interferon induced with helicase C domain 1	IFIH1	64135	ENSG00000115267		Immunodeficiency 95, 619773 (3), Autosomal recessive; Aicardi-Goutieres syndrome 7, 615846 (3), Autosomal dominant; Singleton-Merten syndrome 1, 182250 (3), Autosomal dominant	Ifih1 (MGI:1918836)
chr2	162318763	162375396	2q24.2	2q24.2	607030	GCA	Grancalcin	GCA	25801	ENSG00000115271			Gca (MGI:1918521)
chr2	162371407	162838767	2q24.2	2q24.2	608169	KCNH7, ERG3, HERG3, Kv11.3	Potassium channel, voltage-gated, subfamily H, member 7	KCNH7	90134	ENSG00000184611			Kcnh7 (MGI:2159566)
chr2	162900001	168900000	2q24.3		610155	IDDM19	Diabetes mellitus, insulin-dependent, 19				associated with rs1990760	{Diabetes mellitus, insulin-dependent, 19}, 610155 (2)	
chr2	163602611	163736008	4q22.1	2q24.3	605295	FIGN	Fidgetin	FIGN	55137	ENSG00000182263			Fign (MGI:1890647)
chr2	164492417	164621482	2q22-q24	2q24.3	601524	GRB14	Growth factor receptor-bound protein 14	GRB14	2888	ENSG00000115290			Grb14 (MGI:1355324)
chr2	164657931	164842076	2q24	2q24.3	610318	COBLL1, COBLR1, KIAA0977	COBL-like protein 1	COBLL1	22837	ENSG00000082438			Cobll1 (MGI:2442894)
chr2	164894354	164955525	2q24.3	2q24.3	616526	SLC38A11	Solute carrier family 38 (amino acid transporter), member 11	SLC38A11	151258	ENSG00000169507			Slc38a11 (MGI:2443383)
chr2	165087526	165204050	2q24	2q24.3	182391	SCN3A, FFEVF4, DEE62	Sodium voltage-gated channel, alpha subunit 3	SCN3A	6328	ENSG00000153253		Epilepsy, familial focal, with variable foci 4, 617935 (3), Autosomal dominant; Developmental and epileptic encephalopathy 62, 617938 (3), Autosomal dominant	Scn3a (MGI:98249)
chr2	165239414	165392304	2q23-q24.3	2q24.3	182390	SCN2A, SCN2A1, BFIC3, DEE11, BFIS3, BFNIS, EA9	Sodium voltage-gated channel, alpha subunit 2	SCN2A	6326	ENSG00000136531	4 related genes on chr.2	Seizures, benign familial infantile, 3, 607745 (3), Autosomal dominant; Developmental and epileptic encephalopathy 11, 613721 (3), Autosomal dominant; Episodic ataxia, type 9, 618924 (3), Autosomal dominant	Scn2a (MGI:98248)
chr2	165469698	165689407	2q24.3	2q24.3	620405	CSRNP3, TAIP2, MBU1	Cysteine- and serine-rich nuclear protein 3	CSRNP3	80034	ENSG00000178662			Csrnp3 (MGI:1925021)
chr2	165747588	165794692	2q24-q31	2q24.3	601756	GALNT3, HHS, HFTC1	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3	GALNT3	2591	ENSG00000115339		Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3), Autosomal recessive	Galnt3 (MGI:894695)
chr2	165873362	165953776	2q24.3	2q24.3	612014	TTC21B, THM1, NPHP12, SRTD4, ATD4	Tetratricopeptide repeat domain 21B	TTC21B	79809	ENSG00000123607		Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3), Autosomal recessive; Nephronophthisis 12, 613820 (3), Autosomal recessive, Autosomal dominant	Ttc21b (MGI:1920918)
chr2	165984641	166149161	2q24	2q24.3	182389	SCN1A, GEFSP2, SMEI, FEB3A, DEE6A, DRVT, FHM3, DEE6B	Sodium voltage-gated channel, alpha subunit 1	SCN1A	6323	ENSG00000144285		Developmental and epileptic encephalopathy 6B, non-Dravet, 619317 (3), Autosomal dominant; Migraine, familial hemiplegic, 3, 609634 (3), Autosomal dominant; Dravet syndrome, 607208 (3), Autosomal dominant; Febrile seizures, familial, 3A, 604403 (3), Autosomal dominant; Generalized epilepsy with febrile seizures plus, type 2, 604403 (3), Autosomal dominant	Scn1a (MGI:98246)
chr2	166195185	166375987	2q24	2q24.3	603415	SCN9A, NENA, PN1, SFNP, HSAN2D	Sodium voltage-gated channel, alpha subunit 9	SCN9A	6335	ENSG00000169432		Erythermalgia, primary, 133020 (3), Autosomal dominant; Insensitivity to pain, congenital, 243000 (3), Autosomal recessive; Small fiber neuropathy, 133020 (3), Autosomal dominant; Paroxysmal extreme pain disorder, 167400 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type IID, 243000 (3), Autosomal recessive	Scn9a (MGI:107636)
chr2	166403573	166494249	2q21-q23	2q24.3	182392	SCN7A, SCN6A	Sodium voltage-gated channel, alpha subunit 7	SCN7A	6332	ENSG00000136546			Scn7a (MGI:102965)
chr2	166888480	167259753	2q24.3	2q24.3	609778	XIRP2, CMYA3, XIRP2	XIN actin-binding repeat-containing protein 2	XIRP2	129446	ENSG00000163092			Xirp2 (MGI:2685198)
chr2	167293001	167874045	2q24.3	2q24.3	603093	B3GALT1	UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase, polypeptide 1	B3GALT1	8708	ENSG00000172318			B3galt1 (MGI:1349403)
chr2	167954022	168247595	2q24.3	2q24.3	607648	STK39, SPAK	Serine/threonine protein kinase 39	STK39	27347	ENSG00000198648			Stk39 (MGI:1858416)
chr2	168456272	168775134	2q24.3	2q24.3	615336	CERS6, LASS6	Ceramide synthase 6	CERS6	253782	ENSG00000172292			Cers6 (MGI:2442564)
chr2	168786539	168865514	2q31.1	2q24.3	607496	NOSTRIN	Nitric oxide synthase trafficker	NOSTRIN	115677	ENSG00000163072			Nostrin (MGI:3606242)
chr2	168861521	168890430	2q31.1	2q24.3	609395	SPC25, SPBC25	SPC25, NDC80 kinetochore complex component	SPC25	57405	ENSG00000152253			Spc25 (MGI:1913692)
chr2	168900001	177100000	2q31.1		613681	DUP2q31.1, C2DUPq31.1	Chromosome 2q31.1 duplication syndrome				duplication of 9 HOXD genes and MTX2	Chromosome 2q31.1 duplication syndrome, 613681 (4), Autosomal dominant	
chr2	168900001	182100000	2q31		600321	IDDM7	Insulin-dependent diabetes mellitus-7		3406			{Diabetes mellitus, insulin-dependent, 7}, 600321 (2)	
chr2	168900001	182100000	2q31		611147	PNKD2	Paroxysmal nonkinesigenic dyskinesia 2		100188328		between D2S2188 and D2S364	Paroxysmal nonkinesigenic dyskinesia 2, 611147 (2), Autosomal dominant	
chr2	168900001	182100000	2q31		606708	SHFM5	Split-hand/foot malformation 5		171157		between EVX2 and D2S294	Split-hand/foot malformation 5, 606708 (2)	
chr2	168901291	168910000	2q24-q32	2q31.1	608058	G6PC2, IGRP	Glucose-6-phosphatase, catalytic, 2	G6PC2	57818	ENSG00000152254			G6pc2 (MGI:1277193)
chr2	168915390	169031324	2q24	2q31.1	603201	ABCB11, BSEP, SPGP, PFIC2, BRIC2	ATP-binding cassette, subfamily B, member 11 (bile salt export pump)	ABCB11	8647	ENSG00000073734		Cholestasis, benign recurrent intrahepatic, 2, 605479 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic 2, 601847 (3), Autosomal recessive	Abcb11 (MGI:1351619)
chr2	169067077	169096167	2q31.1	2q31.1	612131	DHRS9, RDHTBE	Short-chain dehydrogenase/reductase family, member 9	DHRS9	10170	ENSG00000073737			Dhrs9 (MGI:2442798)
chr2	169127109	169362534	2q24-q31	2q31.1	600073	LRP2, DBS	Low density lipoprotein-related protein 2	LRP2	4036	ENSG00000081479		Donnai-Barrow syndrome, 222448 (3), Autosomal recessive	Lrp2 (MGI:95794)
chr2	169479494	169506655	2q31	2q31.1	603650	BBS5	BBS gene 5	BBS5	129880	ENSG00000163093		Bardet-Biedl syndrome 5, 615983 (3), Autosomal recessive	Bbs5 (MGI:1919819)
chr2	169509702	169526258	2q31.1	2q31.1	607701	KLHL41, KBTBD10, SARCOSIN, NEM9	Kelch-like family member 41	KLHL41	10324	ENSG00000239474		Nemaline myopathy 9, 615731 (3), Autosomal recessive	Klhl41 (MGI:2683854)
chr2	169528508	169573865	2q31.3	2q31.1	617529	FASTKD1, KIAA1800	Fast kinase domains 1	FASTKD1	79675	ENSG00000138399			Fastkd1 (MGI:2444596)
chr2	169584351	169641406	2q31.1	2q31.1	606093	PPIG	Peptidyl-prolyl isomerase G (cyclophilin G)	PPIG	9360	ENSG00000138398			Ppig (MGI:2445173)
chr2	169798871	169812064	2q31.1	2q31.1	109090	SSB, LARP3	Small RNA-binding exonuclease protection factor La	SSB	6741	ENSG00000138385			Ssb (MGI:98423)
chr2	169811757	169824905	2q31.1	2q31.1	618628	METTL5, HSPC133, MRT72	Methyltransferase 5, N6-adenosine	METTL5	29081	ENSG00000138382		Intellectual developmental disorder, autosomal recessive 72, 618665 (3), Autosomal recessive	Mettl5 (MGI:1922672)
chr2	169827454	170084131	2q31.1	2q31.1	613831	UBR3	Ubiquitin protein ligase E3 component N-recognin 3	UBR3	130507	ENSG00000144357			Ubr3 (MGI:1861100)
chr2	170178147	170655167	2q31.1-q31.2	2q31.1	610040	MYO3B	Myosin IIIB	MYO3B	140469	ENSG00000071909			Myo3b (MGI:2448580)
chr2	170715337	170718078	2q31.1	2q31.1	609391	SP5	Transcription factor Sp5	SP5	389058	ENSG00000204335			Sp5 (MGI:1927715)
chr2	170770378	170798977	2q31.1	2q31.1	620858	ERICH2	Glutamate-rich protein 2	ERICH2	285141	ENSG00000204334			Erich2 (MGI:1913998)
chr2	170813210	170861151	2q31	2q31.1	605363	GAD1, SCP, DEE89	Glutamate decarboxylase-1, brain, 67kD	GAD1	2571	ENSG00000128683		Developmental and epileptic encephalopathy 89, 619124 (3), Autosomal recessive	Gad1 (MGI:95632)
chr2	170928477	170967130	2q31.1	2q31.1	608693	GORASP2, GRASP55	Golgi reassembly stacking protein 2	GORASP2	26003	ENSG00000115806			Gorasp2 (MGI:2135962)
chr2	170990823	171231293	2q31.1	2q31.1	608438	TLK1, KIAA0137	Tousled-like kinase 1	TLK1	9874	ENSG00000198586			Tlk1 (MGI:2441683)
chr2	171315746	171434772	2q31.1	2q31.1	609525	METTL8, TIP	Methyltransferase 8, methylcytidine	METTL8	79828	ENSG00000123600			Mettl8 (MGI:2385142)
chr2	171434226	171485052	2q22.3-q35	2q31.1	612515	DCAF17, C20orf37	DDB1- and CUL4-associated factor 17	DCAF17	80067	ENSG00000115827		Woodhouse-Sakati syndrome, 241080 (3), Autosomal recessive	Dcaf17 (MGI:1923013)
chr2	171522233	171558129	2q31.1	2q31.1	605745	CYBD1, DCYTB	Cytochrome b reductase 1	CYBRD1	79901	ENSG00000071967			Cybrd1 (MGI:2654575)
chr2	171687469	171750158	2q31.1	2q31.1	603331	DYNC1I2, DNCI2, IC2, NEDMIBA	Dynein, cytoplasmic-1, intermediate chain-2	DYNC1I2	1781	ENSG00000077380		Neurodevelopmental disorder with microcephaly and structural brain anomalies, 618492 (3), Autosomal recessive	Dync1i2 (MGI:107750)
chr2	171783405	171894244	2q24	2q31.1	603667	SLC25A12, ARALAR, DEE39	Solute carrier family 25 (mitochondrial carrier, Aralar), member 12	SLC25A12	8604	ENSG00000115840		Developmental and epileptic encephalopathy 39, 612949 (3), Autosomal recessive	Slc25a12 (MGI:1926080)
chr2	171922461	171983686	2q31.2-q33.1	2q31.1	603053	HAT1	Histone acetyltransferase-1	HAT1	8520	ENSG00000128708			Hat1 (MGI:96013)
chr2	171999953	172082430	2q31.1	2q31.1	610267	METAP1D, MAP1D	Methionyl aminopeptidase type 1D (mitochondrial)	METAP1D	254042	ENSG00000172878			Metap1d (MGI:1913809)
chr2	172085507	172089674	2q32	2q31.1	600029	DLX1	Distal-less homeobox 1	DLX1	1745	ENSG00000144355			Dlx1 (MGI:94901)
chr2	172099438	172102900	2q32	2q31.1	126255	DLX2, TES1	Distal-less homeobox 2	DLX2	1746	ENSG00000115844			Dlx2 (MGI:94902)
chr2	172427336	172506459	2q31.1	2q31.1	147556	ITGA6, JEB6	Integrin, alpha-6	ITGA6	3655	ENSG00000091409		Epidermolysis bullosa, junctional 6, with pyloric atresia, 619817 (3), Autosomal recessive	Itga6 (MGI:96605)
chr2	172555373	172724312	2q31.1	2q31.1	602524	PDK1	Pyruvate dehydrogenase kinase, isoenzyme 1	PDK1	5163	ENSG00000152256			Pdk1 (MGI:1926119)
chr2	172735318	173052893	2q31.1	2q31.1	606058	RAPGEF4, EPAC2	Rap guanine nucleotide exchange factor	RAPGEF4	11069	ENSG00000091428			Rapgef4 (MGI:1917723)
chr2	173075517	173268015	2q31.1	2q31.1	609479	MAP3K20, ZAK, MLTK, MRK, SFMMP, CNM6	Mitogen-activated protein kinase kinase kinase 20	MAP3K20	51776	ENSG00000091436		Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3), Autosomal recessive; Split-foot malformation with mesoaxial polydactyly, 616890 (3), Autosomal recessive	Map3k20 (MGI:2443258)
chr2	173354872	173368997	2q31	2q31.1	609937	CDCA7, JPO1, ICF3	Cell division cycle-associated 7	CDCA7	83879	ENSG00000144354		Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3), Autosomal recessive	Cdca7 (MGI:1914203)
chr2	173900775	173965702	2q31	2q31.1	601804	SP3	Sp3 transcription factor	SP3	6670	ENSG00000172845			Sp3 (MGI:1277166)
chr2	174072447	174248532	2q31.1	2q31.1	611175	OLA1, GTBP9	OBG-like ATPase 1	OLA1	29789	ENSG00000138430			Ola1 (MGI:1914309)
chr2	174334954	174338500	2q31.1	2q31.1	621003	SP9	Transcription factor Sp9	SP9	100131390	ENSG00000217236			Sp9 (MGI:3574660)
chr2	174348022	174395712	2q31.1	2q31.1	605228	CIR1	CBF1-interacting corepressor	CIR1	9541	ENSG00000138433			Cir1 (MGI:1914185)
chr2	174395730	174430071	2q31.1	2q31.1	614967	SCRN3, SES3	Secernin 3	SCRN3	79634	ENSG00000144306			Scrn3 (MGI:1921866)
chr2	174431571	174487029	2q31.1	2q31.1	620855	GPR155, PGR22, LYCHOS	G protein-coupled receptor 155	GPR155	151556	ENSG00000163328			Gpr155 (MGI:1915776)
chr2	174559574	174682913	2q31.1	2q31.1	602357	WIPF1, WASPIP, WIP, WAS2	WAS/WASL-interacting protein family, member 1	WIPF1	7456	ENSG00000115935		Wiskott-Aldrich syndrome 2, 614493 (3), Autosomal recessive	Wipf1 (MGI:2178801)
chr2	174747592	174764472	2q24-q32	2q31.1	100690	CHRNA1, ACHRD, CMS1B, CMS1A	Cholinergic receptor, nicotinic, alpha polypeptide-1, muscle	CHRNA1	1134	ENSG00000138435		Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3), Autosomal recessive, Autosomal dominant; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3), Autosomal dominant; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive	Chrna1 (MGI:87885)
chr2	174798809	175005381	2q31-q32.1	2q31.1	118423	CHN1, CHN, ARHGAP2, RHOGAP2, DURS2	Chimerin 1 (GTPase-activating protein, rho, 2)	CHN1	1123	ENSG00000128656		Duane retraction syndrome 2, 604356 (3), Autosomal dominant	Chn1 (MGI:1915674)
chr2	175072259	175168203	2q32	2q31.1	123811	ATF2, CREB2	Activating transcription factor 2	ATF2	1386	ENSG00000115966			Atf2 (MGI:109349)
chr2	175176258	175181710	2q31.1	2q31.1	602736	ATP5MC3, ATP5G3, DYTSPG	ATP synthase membrane subunit c locus 3	ATP5MC3	518	ENSG00000154518		Dystonia, early-onset, and/or spastic paraplegia, 619681 (3), Autosomal dominant	Atp5mc3 (MGI:2442035)
chr2	175923882	176002820	2q31	2q31.1	610236	LNPK, KIAA1715, NEDEHCC	Lunapark	LNPK	80856	ENSG00000144320		Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 (3), Autosomal recessive	Lnpk (MGI:1918115)
chr2	176077472	176083962	2q31-q32	2q31.1	142991	EVX2	Even-skipped homeobox 2	EVX2	344191	ENSG00000174279	13kb 5' to HOX4I		Evx2 (MGI:95462)
chr2	176087487	176095944	2q31-q32	2q31.1	142989	HOXD13, HOX4I, SPD1, BDSD	Homeobox D13	HOXD13	3239	ENSG00000128714	mutation identified in 1 BDSD family	Syndactyly, type V, 186300 (3), Autosomal dominant; Synpolydactyly 1, 186000 (3), Autosomal dominant; Brachydactyly, type E, 113300 (3), Autosomal dominant; Brachydactyly, type D, 113200 (3), Autosomal dominant; ?Brachydactyly-syndactyly syndrome, 610713 (3)	Hoxd13 (MGI:96205)
chr2	176099795	176102489	2q31-q32	2q31.1	142988	HOXD12, HOX4H	Homeobox D12	HOXD12	3238	ENSG00000170178	upstream from HOX4A-G		Hoxd12 (MGI:96204)
chr2	176107280	176115679	2q31-q32	2q31.1	142986	HOXD11, HOX4F	Homeobox D11	HOXD11	3237	ENSG00000128713			Hoxd11 (MGI:96203)
chr2	176116778	176119937	2q31-q32	2q31.1	142984	HOXD10, HOX4D	Homeobox D10	HOXD10	3236	ENSG00000128710		Vertical talus, congenital, 192950 (3), Autosomal dominant; Charcot-Marie-Tooth disease, foot deformity of, 192950 (3), Autosomal dominant	Hoxd10 (MGI:96202)
chr2	176122719	176124937	2q31-q32	2q31.1	142982	HOXD9, HOX4C	Homeobox D9	HOXD9	3235	ENSG00000128709			Hoxd9 (MGI:96210)
chr2	176129705	176132695	2q31-q32	2q31.1	142985	HOXD8, HOX4E	Homeobox D8	HOXD8	3234	ENSG00000175879			Hoxd8 (MGI:96209)
chr2	176150303	176150412	2q31	2q31.1	611576	MIR10B, MIRN10B	Micro RNA 10B	MIR10B	406903	ENSG00000207744			Mir10b (MGI:2676804)
chr2	176151550	176153226	2q31-q32	2q31.1	142981	HOXD4, HOX4B	Homeobox D4	HOXD4	3233	ENSG00000170166			Hoxd4 (MGI:96208)
chr2	176152529	176173098	2q31-q32	2q31.1	142980	HOXD3, HOX4A	Homeobox D3	HOXD3	3232	ENSG00000128652			Hoxd3 (MGI:96207)
chr2	176173189	176188958	2q31.1	2q31.1	618209	HAGLR, MDGT	HOXD antisense growth-associated long noncoding RNA	HAGLR	401022	ENSG00000224189			
chr2	176188668	176190907	2q31-q32	2q31.1	142987	HOXD1, HOX4G	Homeobox D1	HOXD1	3231	ENSG00000128645			Hoxd1 (MGI:96201)
chr2	176269442	176338025	2q31.1	2q31.1	608555	MTX2, MDPS	Metaxin 2	MTX2	10651	ENSG00000128654		Mandibuloacral dysplasia progeroid syndrome, 619127 (3), Autosomal recessive	Mtx2 (MGI:1859652)
chr2	177100001	179700000	2q31.2		612345	DEL2q31	Chromosome 2q31.2 deletion syndrome				contiguous gene deletion syndrome	Chromosome 2q31.2 deletion syndrome, 612345 (4)	
chr2	177212794	177223959	2q31.2	2q31.2	605372	HNRPA3, D10S102, FBRNP	Heterogeneous nuclear ribonucleoprotein A3	HNRNPA3	220988	ENSG00000170144			Hnrnpa3 (MGI:1917171)
chr2	177230303	177264727	2q31	2q31.2	600492	NFE2L2, NRF2, IMDDHH	Nuclear factor, erythroid-derived 2-like 2	NFE2L2	4780	ENSG00000116044		Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3), Autosomal dominant	Nfe2l2 (MGI:108420)
chr2	177392773	177543834	2q31	2q31.2	603051	AGPS, ADHAPS, RCDP3	Alkylglycerone-phosphate synthase	AGPS	8540	ENSG00000018510		Rhizomelic chondrodysplasia punctata, type 3, 600121 (3), Autosomal recessive	Agps (MGI:2443065)
chr2	177548998	177552796	2q31.2	2q31.2	620742	IFT70B, TTC30B	Intraflagellar transport 70B	IFT70B	150737	ENSG00000196659			Ift70a2,Ift70b (MGI:1919671,MGI:3700200)
chr2	177612999	177618742	2q31.2	2q31.2	620741	IFT70A, TTC30A	Intraflagellar transport 70A	IFT70A	92104	ENSG00000197557			Ift70a1,Ift70a2 (MGI:1926052,MGI:3700200)
chr2	177623244	178108339	2q31.2	2q31.2	604961	PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2	Phosphodiesterase 11A	PDE11A	50940	ENSG00000128655		Pigmented nodular adrenocortical disease, primary, 2, 610475 (3), Autosomal dominant	Pde11a (MGI:3036251)
chr2	178112437	178139011	2q31.2	2q31.2	608888	RBM45, DRB1	RNA binding motif protein 45	RBM45	129831	ENSG00000155636			Rbm45 (MGI:2387367)
chr2	178193774	178402893	2q32.1	2q31.2	606734	OSBPL6, ORP6	Oxysterol-binding protein-like protein 6	OSBPL6	114880	ENSG00000079156			Osbpl6 (MGI:2139014)
chr2	178413659	178440243	2q31.2	2q31.2	621027	CHROMR	Cholesterol-induced regulator of metabolism RNA, noncoding	CHROMR	101927027	ENSG00000223960			
chr2	178431414	178451175	2q31.3	2q31.2	603424	PRKRA, PACT, RAX, DYT16	Protein kinase, interferon-inducible double-stranded RNA-dependent activator	PRKRA	8575	ENSG00000180228		Dystonia 16, 612067 (3), Autosomal recessive	Prkra (MGI:1344375)
chr2	178451378	178462102	2q31.2	2q31.2	610219	PJVK, DFNB59	Pejvakin	PJVK	494513	ENSG00000204311		Deafness, autosomal recessive 59, 610220 (3), Autosomal recessive	Pjvk (MGI:2685847)
chr2	178463664	178478600	2q31.2	2q31.2	607062	FKBP7, FKBP23	FK506-binding protein 7	FKBP7	51661	ENSG00000079150			Fkbp7 (MGI:1336879)
chr2	178480457	178516463	2q31.2	2q31.2	607774	PLEKHA3, FAPP1	Pleckstrin homology domain-containing protein, family A, member 3	PLEKHA3	65977	ENSG00000116095			Plekha3 (MGI:1932515)
chr2	178525989	178807423	2q31	2q31.2	188840	TTN, CMD1G, TMD, LGMDR10, MPRM, HMERF, CMYO5	Titin	TTN	7273	ENSG00000155657		Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3), Autosomal recessive; Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Congenital myopathy 5 with cardiomyopathy, 611705 (3), Autosomal recessive; Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant; Cardiomyopathy, dilated, 1G, 604145 (3), Autosomal dominant; Myopathy, myofibrillar, 9, with early respiratory failure, 603689 (3), Autosomal dominant	Ttn (MGI:98864)
chr2	178814978	179050137	2q31	2q31.2	616031	CCDC141, CAMDI	Coiled-coil domain-containing protein 141	CCDC141	285025	ENSG00000163492			Ccdc141 (MGI:1919735)
chr2	179101678	179264832	2q31.2	2q31.2	621011	SESTD1	Sec14 and spectrin domains-containing protein 1	SESTD1	91404	ENSG00000187231			Sestd1 (MGI:1916262)
chr2	179441982	179861612	2q31.2-q31.3	2q31.2-q31.3	612344	ZNF385B, ZFN533	Zinc finger protein 385B	ZNF385B	151126	ENSG00000144331			Zfp385b (MGI:2444734)
chr2	179700001	188500000	2q31.3-q32.1		187370	DA10	Arthrogryposis, distal, type 10				max lod at D2S364	Arthrogryposis, distal, type 10, 187370 (2), Autosomal dominant	
chr2	179860836	179860908	2q31.3	2q31.3	614488	MIR1258	Micro RNA 1258	MIR1258	100302172	ENSG00000221240	on opposite strand from ZNF385B		
chr2	179944876	180007297	2q31.3	2q31.3	615186	CWC22, KIAA1604, NCM	CWC22 spliceosome-associated protein homolog	CWC22	57703	ENSG00000163510			Cwc22,Cwc22rt1,Cwc22rt2,Cwc22rt3,Cwc22rt4,Cwc22rt5,Cwc22rt6,Cwc22rt7 (MGI:2136773,MGI:3702053,MGI:3702055,MGI:3702064,MGI:3702066,MGI:3702068,MGI:3702070,MGI:3702072)
chr2	180692104	180916939	2q31.3	2q31.3	615568	SCHLAP1, PCAT114, LINC00913	SWI/SNF complex antagonist associated with prostate cancer 1, noncoding	SCHLAP1	101669767	ENSG00000281131			
chr2	180980360	181063425	2q32.1	2q31.3	604151	UBE2E3, UBCH9	Ubiquitin-conjugating enzyme E2 E3	UBE2E3	10477	ENSG00000170035			Ube2e3 (MGI:107412)
chr2	181457205	181538940	2q31-q32	2q31.3	192975	ITGA4, CD49D	Integrin, alpha-4 (antigen CD49D, alpha-4 subunit of VLA-4 receptor)	ITGA4	3676	ENSG00000115232			Itga4 (MGI:96603)
chr2	181536672	181657105	2q31.3	2q31.3	608381	CERKL, RP26	Ceramide kinase-like	CERKL	375298	ENSG00000188452		Retinitis pigmentosa 26, 608380 (3), Autosomal recessive	Cerkl (MGI:3037816)
chr2	181668295	181680517	2q32	2q31.3	601724	NEUROD1, T2D	Neurogenic differentiation 1	NEUROD1	4760	ENSG00000162992		{Type 2 diabetes mellitus, susceptibility to}, 125853 (3), Autosomal dominant; Maturity-onset diabetes of the young 6, 606394 (3)	Neurod1 (MGI:1339708)
chr2	181891730	181930738	2q31.3	2q31.3	118990	ITPRID2, SSFA2, CS1	ITPR-interacting domain-containing protein 2	ITPRID2	6744	ENSG00000138434			Itprid2 (MGI:1917849)
chr2	181954480	182131385	2q32.1	2q31.3-q32.1	613240	PPP1R1C, IPP5	Protein phosphatase 1, regulatory subunit 1C	PPP1R1C	151242	ENSG00000150722			Ppp1r1c (MGI:1923185)
chr2	182100001	196600000	2q32.1-q32.3		602087	ARVD4	Arrhythmogenic right ventricular dysplasia 4		425			Arrhythmogenic right ventricular dysplasia 4, 602087 (2), Autosomal dominant	
chr2	182100001	188500000	2q32.1		612361	SCZD14	Schizophrenia 14		100196913		associated with rs1344706	{Schizophrenia, susceptibility to, 14}, 612361 (2)	
chr2	182140041	182716797	2q32.1	2q32.1	171890	PDE1A	Phosphodiesterase-1A	PDE1A	5136	ENSG00000115252			Pde1a (MGI:1201792)
chr2	182716257	182794464	2p23.1-p22.1	2q32.1	607987	DNAJC10, ERDJ5, JPDI	DNAJ/HSP40 homolog, subfamily C, member 10	DNAJC10	54431	ENSG00000077232			Dnajc10 (MGI:1914111)
chr2	182833275	182866637	2q31-q33	2q32.1	605083	FRZB, FRZB1, SRFP3, OS1	Frizzled-related protein	FRZB	2487	ENSG00000162998		{Osteoarthritis susceptibility 1}, 165720 (3), Multifactorial	Frzb (MGI:892032)
chr2	182909115	183038457	2q32.1-q32.2	2q32.1	604891	NCKAP1, NAP1	NCK-associated protein 1	NCKAP1	10787	ENSG00000061676			Nckap1 (MGI:1355333)
chr2	183078747	183100008	2q32.1	2q32.1	611437	DUSP19, SKRP1, DUSP17	Dual-specificity phosphatase 19	DUSP19	142679	ENSG00000162999			Dusp19 (MGI:1915332)
chr2	183117514	183161680	2q32.1	2q32.1	608140	NUP35, NP44	Nucleoporin, 35kD	NUP35	129401	ENSG00000163002			Nup35 (MGI:1916732)
chr2	184598529	184939492	2q32.1	2q32.1	612282	ZNF804A, C2orf10	Zinc finger protein 804A	ZNF804A	91752	ENSG00000170396			Zfp804a (MGI:2442949)
chr2	185737134	185833290	2q32.1	2q32.1	615796	FSIP2, SPGF34	Fibrous sheath-interacting protein 2	FSIP2	401024	ENSG00000188738		Spermatogenic failure 34, 618153 (3), Autosomal recessive	Fsip2 (MGI:2664111)
chr2	186486260	186509361	2q32.1	2q32.1	619704	ZC3H15, DFRP1, LEREPO4	Zinc finger CCCH domain-containing protein 15	ZC3H15	55854	ENSG00000065548			Zc3h15 (MGI:1919747)
chr2	186590056	186680901	2q31	2q32.1	193210	ITGAV, VNRA	Integrin, alpha-V (vitronectin receptor, alpha polypeptide)	ITGAV	3685	ENSG00000138448			Itgav (MGI:96608)
chr2	186694060	186765959	2q32.1	2q32.1	620309	FAM171B, KIAA1946	Family with sequence similarity 171, member B	FAM171B	165215	ENSG00000144369			Fam171b (MGI:2444579)
chr2	187341964	187448252	2q31-q32	2q32.1	114190	CALCRL, CGRPR, CRLR, LMPHM8	Calcitonin receptor-like	CALCRL	10203	ENSG00000064989	mutation identified in 1 LMPHM8 family	?Lymphatic malformation 8, 618773 (3), Autosomal recessive	Calcrl (MGI:1926944)
chr2	187464230	187554435	2q31-q32.1	2q32.1	152310	TFPI, LACI	Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	TFPI	7035	ENSG00000003436			Tfpi (MGI:1095418)
chr2	188291874	188595926	2q32.2-q33	2q32.1-q32.2	608165	GULP1, CED6	PTB domain-containing engulfment adaptor protein 1	GULP1	51454	ENSG00000144366			Gulp1 (MGI:1920407)
chr2	188733738	188790123	2q33	2q32.2	606423	DIRC1	Disrupted in renal cancer 1	DIRC1	116093				
chr2	188974373	189012746	2q32.2	2q32.2	120180	COL3A1, EDSVASC, PMGEDSV	Collagen III, alpha-1 polypeptide	COL3A1	1281	ENSG00000168542	in same 35kb segment as COL5A2	Ehlers-Danlos syndrome, vascular type, 130050 (3), Autosomal dominant; Polymicrogyria with or without vascular-type EDS, 618343 (3), Autosomal recessive	Col3a1 (MGI:88453)
chr2	189031898	189441111	2q32.2	2q32.2	120190	COL5A2, EDSCL2	Collagen V, alpha-2 polypeptide	COL5A2	1290	ENSG00000204262	very close to COL3A1	Ehlers-Danlos syndrome, classic type, 2, 130010 (3), Autosomal dominant	Col5a2 (MGI:88458)
chr2	189441474	189475552	2q32.2	2q32.2	620341	WDR75, UTP17, NET16	WD repeat-containing protein 75	WDR75	84128	ENSG00000115368			Wdr75 (MGI:1920924)
chr2	189560590	189580786	2q32	2q32.2	604653	SLC40A1, SLC11A3, FPN1, IREG1, HFE4	Solute carrier family 40 (iron-regulated transporter), member 1	SLC40A1	30061	ENSG00000138449		Hemochromatosis, type 4, 606069 (3), Autosomal dominant	Slc40a1 (MGI:1315204)
chr2	189661459	189666401	2q32.2	2q32.2	619740	ASDURF	ASNSD1 upstream open reading frame	ASDURF	110599588	ENSG00000286053			
chr2	189661459	189670831	2q32.2	2q32.2	619739	ASNSD1	Asparagine synthetase domain-containing protein 1	ASNSD1	54529	ENSG00000138381			Asnsd1 (MGI:1917646)
chr2	189674670	189763059	2q32.2	2q32.2	609803	FLJ25415	FLJ25415 gene	ANKAR	150709	ENSG00000151687			Ankar (MGI:2442559)
chr2	189746660	189763198	2q32.2	2q32.2	619634	OSGEPL1, QRI7	O-sialoglycoprotein endopeptidase-like 1	OSGEPL1	64172	ENSG00000128694			Osgepl1 (MGI:1919335)
chr2	189763859	189784339	2q32.2	2q32.2	610073	ORMDL1	ORM1-like protein 1	ORMDL1	94101	ENSG00000128699	pseudogene on 10p14		Ormdl1 (MGI:2181669)
chr2	189784450	189877629	2q31-q33	2q32.2	600258	PMS1, PMSL1, HNPCC3	PMS1 homolog 1, mismatch repair system component	PMS1	5378	ENSG00000064933			Pms1 (MGI:1202302)
chr2	189879562	190203484	2q32.2	2q32.2	615117	C2orf88, SMAKAP	Small membrane protein kinase A-anchoring protein	C2orf88	84281	ENSG00000187699			1700019D03Rik (MGI:1914330)
chr2	190055700	190062729	2q32.2	2q32.2	601788	MSTN, GDF8, MSLHP	Myostatin	MSTN	2660	ENSG00000138379	mutation identified in 1 MSLHP patient	?Muscle hypertrophy, 614160 (3), Autosomal recessive	Mstn (MGI:95691)
chr2	190189735	190319826	2q32.2	2q32.2	610690	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	HIBCH	26275	ENSG00000198130		3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3), Autosomal recessive	Hibch (MGI:1923792)
chr2	190343589	190371665	2q32	2q32.2	147263	INPP1	Inositol polyphosphate-1-phosphatase	INPP1	3628	ENSG00000151689			Inpp1 (MGI:104848)
chr2	190407576	190502314	2q32.2	2q32.2	613476	MFSD6, MMR2	Major facilitator superfamily domain-containing protein 6	MFSD6	54842	ENSG00000151690			Mfsd6 (MGI:1922925)
chr2	190421421	190648785	2q32.2	2q32.2	616497	NEMP2, TMEM194B	Nuclear envelope integral membrane protein 2	NEMP2	100131211	ENSG00000189362			Nemp2 (MGI:2444113)
chr2	190648895	190692766	2q32.3-q33	2q32.2	600800	NAB1	NGFI-A-binding protein, ERG1-binding protein	NAB1	4664	ENSG00000138386			Nab1 (MGI:107564)
chr2	190880821	190965552	2q32-q34	2q32.2	138280	GLS, GLS1, DEE71, CASGID, GDPAG	Glutaminase	GLS	2744	ENSG00000115419		CASGID syndrome, 618339 (3), Autosomal dominant; Global developmental delay, progressive ataxia, and elevated glutamine, 618412 (3), Autosomal recessive; Developmental and epileptic encephalopathy 71, 618328 (3), Autosomal recessive	Gls (MGI:95752)
chr2	190969149	191014171	2q32.2-q32.3	2q32.2	600555	STAT1, CANDF7, IMD31A, IMD31B, IMD31C	Signal transducer and activator of transcription-1	STAT1	6772	ENSG00000115415		Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, 614162 (3), Autosomal dominant; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3), Autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3), Autosomal recessive	Stat1 (MGI:103063)
chr2	191029576	191151596	2q32.2-q32.3	2q32.2-q32.3	600558	STAT4, SLEB11, DPMC	Signal transducer and activator of transcription-4	STAT4	6775	ENSG00000138378		Disabling pansclerotic morphea of childhood, 620443 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3)	Stat4 (MGI:103062)
chr2	191245404	191425386	2q32	2q32.3	606537	MYO1B	Myosin IB	MYO1B	4430	ENSG00000128641			Myo1b (MGI:107752)
chr2	191678136	191686943	2q32.3	2q32.3	612103	NABP1, OBFC2A, SSB2	Nucleic acid-binding protein 1	NABP1	64859	ENSG00000173559			Nabp1 (MGI:1923258)
chr2	191834310	191847088	2q32-q33	2q32.3	606728	CAVIN2, SDPR, SDR	Caveolae-associated protein 2	CAVIN2	8436	ENSG00000168497			Cavin2 (MGI:99513)
chr2	191949046	192194933	2q32-q33	2q32.3	605734	TMEFF2, HPP1, TR	Transmembrane protein with EGF-like and 2 follistatin-like domains 2	TMEFF2	23671	ENSG00000144339			Tmeff2 (MGI:1861735)
chr2	192749845	192776899	2q32	2q32.3	605443	PCGEM1	Prostate-specific gene PCGEM1	PCGEM1	64002	ENSG00000227418			
chr2	195613029	195737700	2q32.3	2q32.3	608733	SLC39A10, KIAA1265	Solute carrier family 39 (zinc transporter), member 10	SLC39A10	57181	ENSG00000196950			Slc39a10 (MGI:1914515)
chr2	195737703	196068837	2q33.1	2q32.3	610061	DNAH7, KIAA0944, CILD50	Dynein, axonemal, heavy chain 7	DNAH7	56171	ENSG00000118997		Ciliary dyskinesia, primary, 50, 620356 (3), Autosomal recessive	Dnah7a,Dnah7b,Dnah7c (MGI:2684953,MGI:2685838,MGI:3639762)
chr2	196133583	196176483	2q32.3	2q32.3	604727	STK17B, DRAK2	Serine/threonine protein kinase 17b	STK17B	9262	ENSG00000081320			Stk17b (MGI:2138162)
chr2	196194072	196593554	2q32.3	2q32.3	617245	HECW2, NEDL2, KIAA1301, NDHSAL	HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 2	HECW2	57520	ENSG00000138411		Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3), Autosomal dominant	Hecw2 (MGI:2685817)
chr2	196600001	202500000	2q33.1		612586	ANIB9	Aneurysm, intracranial berry, 9		100271688		associated with rs700651	{Aneurysm, intracranial berry, 9}, 612586 (2)	
chr2	196600001	230100000	2q33-q36		614280	EJM9	Epilepsy, juvenile myoclonic, susceptibility to, 9		100750238		max lod at D2S2248	{Epilepsy, juvenile myoclonic, susceptibility to, 9}, 614280 (2), Autosomal dominant	
chr2	196600001	208200000	2q33		610439	RLS4	Restless legs syndrome, susceptibility to, 4		100188813		between D2S311 and D2S317	{Restless legs syndrome 4}, 610439 (2)	
chr2	196763035	196799683	2q33.1	2q33.1	604888	GTF3C3, TFIIIC102	General transcription factor 3C, polypeptide 3	GTF3C3	9330	ENSG00000119041			Gtf3c3 (MGI:2138383)
chr2	196833004	196926707	2q33.1	2q33.1	611655	PGAP1, NEDDSBA	Post-GPI attachment to proteins 1	PGAP1	80055	ENSG00000197121		Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, 615802 (3), Autosomal recessive	Pgap1 (MGI:2443342)
chr2	196967014	197310780	9q33.1	2q33.1	620861	ANKRD44, ARSB	Ankyrin repeat domain-containing protein 44	ANKRD44	91526	ENSG00000065413			Ankrd44 (MGI:3045243)
chr2	197389784	197435093	2q33.1	2q33.1	605590	SF3B1, SF3B155, SAP155, MDS	Splicing factor 3B, subunit 1	SF3B1	23451	ENSG00000115524		Myelodysplastic syndrome, somatic, 614286 (3)	Sf3b1 (MGI:1932339)
chr2	197453552	197475310	2q33.1	2q33.1	620737	COQ10B	Coenzyme Q10B	COQ10B	80219	ENSG00000115520			Coq10b (MGI:1915126)
chr2	197486584	197500274	2q33.1	2q33.1	118190	HSPD1, SPG13, HSP60, HLD4	Heat-shock 60kD protein 1	HSPD1	3329	ENSG00000144381		Spastic paraplegia 13, autosomal dominant, 605280 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 4, 612233 (3), Autosomal recessive	Hspd1 (MGI:96242)
chr2	197500379	197503449	2q33.1	2q33.1	600141	HSPE1, HSP10	Heat-shock 10kD protein	HSPE1	3336	ENSG00000115541			Hspe1,Hspe1-rs1 (MGI:104680,MGI:1935159)
chr2	197515554	197553699	2q33.1	2q33.1	609361	MOB4, MOBKL3, PREI3, MOB1, MOB3	MOB family, member 4	MOB4	25843	ENSG00000115540			Mob4 (MGI:104899)
chr2	197568224	197675587	2q34	2q33.1	618215	RFTN2	Lipid raft linking protein 2	RFTN2	130132	ENSG00000162944			Rftn2 (MGI:1921263)
chr2	197705369	197708395	2q33.1	2q33.1	609728	MARS2, SPAX3, COXPD25	Methionyl-tRNA synthetase 2	MARS2	92935	ENSG00000247626	mutation identified in 1 COXPD25 family	?Combined oxidative phosphorylation deficiency 25, 616430 (3), Autosomal recessive; Spastic ataxia 3, autosomal recessive, 611390 (3), Autosomal recessive	Mars2 (MGI:2444136)
chr2	197726890	197786206	2q33	2q33.1	606165	BOLL, BOULE	BOL-like (Boule, Drosophila, homolog of)	BOLL	66037	ENSG00000152430			Boll (MGI:1922638)
chr2	197804593	198149863	2q33	2q33.1	600597	PLDL1, PLCE, PLCL	Phospholipase C-like 1	PLCL1	5334	ENSG00000115896			Plcl1 (MGI:3036262)
chr2	199269500	199471266	2q33	2q33.1	608148	SATB2, KIAA1034, GLSS	Special AT-rich sequence-binding protein 2	SATB2	23314	ENSG00000119042		Glass syndrome, 612313 (3), Autosomal dominant	Satb2 (MGI:2679336)
chr2	199663835	199851192	2q33.1	2q33.1	614308	FTCDNL1, FONG	Formiminotransferase cyclodeaminase N-terminal like	FTCDNL1	348751	ENSG00000226124			
chr2	199911293	199928273	2q33.1	2q33.1	619219	C2orf69, COXPD53	Chromosome 2 open reading frame 69	C2orf69	205327	ENSG00000178074		Combined oxidative phosphorylation deficiency 53, 619423 (3), Autosomal recessive	1700066M21Rik (MGI:1920717)
chr2	199928913	199955491	2q33.1	2q33.1	619882	TYW5	tRNA yW-synthesizing protein 5	TYW5	129450	ENSG00000162971			Tyw5 (MGI:1915986)
chr2	199955317	199964117	2q33.1	2q33.1	617267	MAIP1, C2orf47	Matrix AAA peptidase-interacting protein 1	MAIP1	79568	ENSG00000162972			Maip1 (MGI:1915365)
chr2	200305879	200482264	2q33.1	2q33.1	613817	SPATS2L, SGNP	Spermatogenesis-associated serine-rich protein 2-like	SPATS2L	26010	ENSG00000196141			Spats2l (MGI:1914448)
chr2	200526142	200584096	2q33.1	2q33.1	612425	SGOL2, SGO2, TRIPIN	Shugoshin-like 2	SGO2	151246	ENSG00000163535			Sgo2a,Sgo2b (MGI:1098767,MGI:3644562)
chr2	200586014	200682241	2q33	2q33.1	602841	AOX1	Aldehyde oxidase-1	AOX1	316	ENSG00000138356			Aox1 (MGI:88035)
chr2	200811589	200827338	2q33.1	2q33.1	619252	BZW1, BZAP45, KIAA0005	Basic leucine zipper domain- and W2 domain-containing protein 1	BZW1	9689	ENSG00000082153			Bzw1 (MGI:1914132)
chr2	200853009	200864658	2q33	2q33.1	601951	CLK1, CLK, STY	CDC-like kinase 1	CLK1	1195	ENSG00000013441			Clk1 (MGI:107403)
chr2	200870907	200889291	2q33	2q33.1	615811	PPIL3	Peptidyl-prolyl isomerase-like 3	PPIL3	53938	ENSG00000240344			Ppil3 (MGI:1917475)
chr2	200889327	200903932	2q33	2q33.1	605778	NIF3L1	NGG1 interacting factor 3-like 1	NIF3L1	60491	ENSG00000196290			Nif3l1 (MGI:1929485)
chr2	200908977	200963660	2q33	2q33.1	601182	ORC2, ORC2L	Origin recognition complex, subunit 2	ORC2	4999	ENSG00000115942			Orc2 (MGI:1328306)
chr2	201072001	201085750	2q31.3	2q33.1	603839	NDUFB3, MC1DN25	NADH-ubiquinone oxidoreductase subunit B3	NDUFB3	4709	ENSG00000119013	pseudogenes on chr. 1, 9, and 14	Mitochondrial complex I deficiency, nuclear type 25, 618246 (3), Autosomal recessive	Ndufb3 (MGI:1913745)
chr2	201116164	201176687	2q33	2q33.1	603599	CFLAR, FLIP, CASPER, FLAME1, CASH	CASP8- and FADD-like apoptosis regulator	CFLAR	8837	ENSG00000003402			Cflar (MGI:1336166)
chr2	201183141	201229406	2q33-q34	2q33.1	601762	CASP10, MCH4, ALPS2	Caspase 10, apoptosis-related cysteine protease	CASP10	843	ENSG00000003400		Autoimmune lymphoproliferative syndrome, type II, 603909 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3)	
chr2	201233463	201287711	2q33	2q33.1	601763	CASP8, MCH5, ALPS2B	Caspase 8, apoptosis-related cysteine protease	CASP8	841	ENSG00000064012	mutation identified in 1 CEDS family	{Breast cancer, protection against}, 114480 (3), Somatic mutation, Autosomal dominant; ?Caspase 8 lymphadenopathy syndrome, 607271 (3), Autosomal recessive; Hepatocellular carcinoma, somatic, 114550 (3); {Lung cancer, protection against}, 211980 (3), Somatic mutation, Autosomal dominant	Casp8 (MGI:1261423)
chr2	201288271	201364289	2q33.1	2q33.1	619796	FLACC1, ALS2CR12	Flagellum-associated protein containing coiled-coil domains 1	FLACC1	130540	ENSG00000155749			Flacc1 (MGI:1918359)
chr2	201377207	201451458	2q33-q34	2q33.1	607334	TRAK2, GRIF1, ALS2CR3, KIAA0549, OIP98	Gamma-aminobutyric acid receptor-interacting factor 1	TRAK2	66008	ENSG00000115993			Trak2 (MGI:1918077)
chr2	201451740	201480846	2q33-q34	2q33.1	607333	STRADB, ILPIP, ALS2CR2	STE20-related kinase adaptor beta	STRADB	55437	ENSG00000082146	pseudogenes on chromosomes 1 and 9		Stradb (MGI:2144047)
chr2	201487421	201619178	2q33.1	2q33.1	619776	C2CD6, ALS2CR11, SPGF68	C2 calcium-dependent domain-containing protein 6	C2CD6	151254	ENSG00000155754	mutation identified in 1 SPGF68 patient	?Spermatogenic failure 68, 619805 (3), Autosomal recessive	C2cd6 (MGI:1920713)
chr2	201620186	201643503	2q33.2	2q33.1	614423	TMEM237, ALS2CR4, JBTS14	Transmembrane protein 237	TMEM237	65062	ENSG00000155755		Joubert syndrome 14, 614424 (3), Autosomal recessive	Tmem237 (MGI:2138365)
chr2	201644874	201698644	2q31	2q33.1	606575	MPP4, DLG6	Membrane protein, palmitoylated 4	MPP4	58538	ENSG00000082126			Mpp4 (MGI:2386681)
chr2	201700267	201780933	2q33	2q33.1	606352	ALS2, ALSJ, PLSJ, IAHSP	Alsin Rho guanine nucleotide exchange factor ALS2	ALS2	57679	ENSG00000003393		Primary lateral sclerosis, juvenile, 606353 (3), Autosomal recessive; Spastic paralysis, infantile onset ascending, 607225 (3), Autosomal recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100 (3), Autosomal recessive	Als2 (MGI:1921268)
chr2	201806429	201895550	2q33.1	2q33.1	616147	CDK15, PFTAIRE2, ALS2CR7	Cyclin-dependent kinase 15	CDK15	65061	ENSG00000138395			Cdk15 (MGI:3583944)
chr2	202033855	202038441	2q33	2q33.1	603410	FZD7	Frizzled class receptor 7	FZD7	8324	ENSG00000155760			Fzd7 (MGI:108570)
chr2	202206171	202238597	2q32.2-q33	2q33.1	601912	SUMO1, UBL1, SMT3, OFC10	Small ubiquitin-like modifier 1	SUMO1	7341	ENSG00000116030	mutation identified in 1 OFC10 patient	?Orofacial cleft 10, 613705 (3), Isolated cases	Sumo1 (MGI:1197010)
chr2	202265763	202303661	2p33.1	2q33.1	616742	NOP58, NOP5	NOP58 ribonucleoprotein	NOP58	51602	ENSG00000055044			Nop58 (MGI:1933184)
chr2	202376327	202567749	2q33	2q33.1-q33.2	600799	BMPR2, PPH1, POVD1	Bone morphogenetic receptor, type II	BMPR2	659	ENSG00000204217		Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3), Autosomal dominant; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3), Autosomal dominant; Pulmonary venoocclusive disease 1, 265450 (3), Autosomal dominant	Bmpr2 (MGI:1095407)
chr2	202773176	202871766	2q33.2	2q33.2	621083	ICA1L	Islet cell autoantigen 1-like protein	ICA1L	130026	ENSG00000163596			Ica1l (MGI:1917625)
chr2	202874261	202911673	2q33.2	2q33.2	616620	WDR12	WD repeat-containing protein 12	WDR12	55759	ENSG00000138442			Wdr12 (MGI:1927241)
chr2	202912275	202988263	2q33	2q33.2	607586	ALS2CR8, CARF	Amyotrophic lateral sclerosis 2 chromosome region, candidate 8 (calcium response factor)	CARF	79800	ENSG00000138380			Carf (MGI:2182269)
chr2	203014608	203225194	2q33-q34	2q33.2	609816	NBEAL1, ALS2CR17	Neurobeachin-like 1	NBEAL1	65065	ENSG00000144426			Nbeal1 (MGI:2444343)
chr2	203328394	203432169	2q33.2	2q33.2	606442	ABI2, AIP1	ABL interactor 2	ABI2	10152	ENSG00000138443			Abi2 (MGI:106913)
chr2	203433682	203535301	2q33.2	2q33.2	609035	RAPH1, KIAA1681, LPD	RAS association and pleckstrin homology domains-containing protein 1	RAPH1	65059	ENSG00000173166			Raph1 (MGI:1924550)
chr2	203706482	203738912	2q33-q34	2q33.2	186760	CD28, IMD123	CD28 antigen (Tp44)	CD28	940	ENSG00000178562	mutation identified in 1 IMD123 family	?Immunodeficiency 123 with HPV-related verrucosis, 620901 (3), Autosomal recessive	Cd28 (MGI:88327)
chr2	203867771	203873965	2q33	2q33.2	123890	CTLA4, IDDM12, CELIAC3, ALPS5	Cytotoxic T-lymphocyte-associated serine esterase-4	CTLA4	1493	ENSG00000163599		Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, 616100 (3), Autosomal dominant; {Diabetes mellitus, insulin-dependent, 12}, 601388 (3); {Celiac disease, susceptibility to, 3}, 609755 (3); {Hashimoto thyroiditis}, 140300 (3), Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant	Ctla4 (MGI:88556)
chr2	203936763	203961577	2q33	2q33.2	604558	ICOS, AILIM, CVID1	Inducible costimulator	ICOS	29851	ENSG00000163600		Immunodeficiency, common variable, 1, 607594 (3), Autosomal recessive	Icos (MGI:1858745)
chr2	204100001	208200000	2q33.3		610839	OS4, GOA1	Osteoarthritis susceptibility 4		100188821		max lod at D2S2358	{Osteoarthritis susceptibility 4}, 610839 (2)	
chr2	204545475	205620162	2q33	2q33.3	619353	PARD3B	PAR3 family cell polarity regulator, beta	PARD3B	117583	ENSG00000116117			Pard3b (MGI:1919301)
chr2	205682501	205798131	2q34	2q33.3	602070	NRP2, VEGF1265R2, NPN2	Neuropilin 2	NRP2	8828	ENSG00000118257			Nrp2 (MGI:1100492)
chr2	205993721	206086174	2q33.3	2q33.3	619207	INO80D	INO80 complex, subunit D	INO80D	54891	ENSG00000114933			Ino80d (MGI:3027003)
chr2	206114817	206159444	2q33-q34	2q33.3	157655	NDUFS1, MC1DN5	NADH-ubiquinone oxidoreductase core subunit S1	NDUFS1	4719	ENSG00000023228		Mitochondrial complex I deficiency, nuclear type 5, 618226 (3), Autosomal recessive	Ndufs1 (MGI:2443241)
chr2	206159609	206162928	2q33-q34	2q33.3	600655	EEF1B2, EEF1B1	Eukaryotic translation elongation factor-1, beta-2	EEF1B2	1933	ENSG00000114942	pseudogene on chr.15		Eef1b2 (MGI:1929520)
chr2	206175316	206217912	2q33.3	2q33.3	600239	CMKLR2, GPR1	Chemerin chemokine-like receptor 2	CMKLR2	2825	ENSG00000183671			Cmklr2 (MGI:2385324)
chr2	206203376	206266243	2q33.3	2q33.3	617636	CMKLR2-AS, GPR1AS	CMKLR2 antisense RNA	CMKLR2-AS	101669764				
chr2	206274663	206314427	2q33.3	2q33.3	617059	ZDBF2, KIAA1571	Zinc finger DBF domain-containing protein 2	ZDBF2	57683	ENSG00000204186			Zdbf2 (MGI:1921134)
chr2	206443532	206621127	2q33	2q33.3	603710	ADAM23, MDC3	ADAM metallopeptidase domain 23	ADAM23	8745	ENSG00000114948			Adam23 (MGI:1345162)
chr2	206651621	206718396	2q33.3	2q33.3	618510	DYTN	Dystrotelin	DYTN	391475	ENSG00000232125			Dytn (MGI:2685061)
chr2	206765606	206796189	2q33.3	2q33.3	612322	FASTKD2, KIAA0971, COXPD44	FAST kinase domains 2	FASTKD2	22868	ENSG00000118246		Combined oxidative phosphorylation deficiency 44, 618855 (3), Autosomal recessive	Fastkd2 (MGI:1922869)
chr2	206939518	206969474	2q33.3	2q33.3	609563	CPO	Carboxypeptidase O	CPO	130749	ENSG00000144410			
chr2	207074137	207173851	2q32	2q33.3	604865	KLF7, UKLF	Kruppel-like factor 7	KLF7	8609	ENSG00000118263			Klf7 (MGI:1935151)
chr2	207239811	207245887	2q33.3	2q33.3	618976	MYOSLID	Myocardin-induced smooth muscle long noncoding RNA, inducer of differentiation	MYOSLID	105373853		overlaps with 3 other lncRNAs in the opposite direction		
chr2	207529962	207605988	2q32.3-q34	2q33.3	123810	CREB1	cAMP-response element-binding protein-1	CREB1	1385	ENSG00000118260	fusion gene with EWSR1	Histiocytoma, angiomatoid fibrous, somatic, 612160 (3)	Creb1 (MGI:88494)
chr2	207580635	207626053	2q33.3	2q33.3	615257	METTL21A, FAM119A	Methyltransferase 21A, HSPA lysine	METTL21A	151194	ENSG00000144401			Mettl21a (MGI:1914349)
chr2	207711640	207756174	2q33.3	2q33.3	620559	CCNYL1	Cyclin Y-like 1	CCNYL1	151195	ENSG00000163249			Ccnyl1 (MGI:2138614)
chr2	207762598	207769906	2q33.3	2q33.3	601723	FZD5, MCOPCB11	Frizzled class receptor 5	FZD5	7855	ENSG00000163251		Microphthalmia/coloboma 11, 620731 (3), Autosomal dominant	Fzd5 (MGI:108571)
chr2	207821288	208025527	2q33.3	2q33.3	619186	PLEKHM3, DAPR	Pleckstrin homology domain-containing protein, family M, member 3	PLEKHM3	389072	ENSG00000178385			Plekhm3 (MGI:2443627)
chr2	208121607	208124524	2q33-q35	2q33.3	123690	CRYGD, CRYG4, CTRCT4, CACA, CCA3, PCC	Crystallin, gamma D	CRYGD	1421	ENSG00000118231		Cataract 4, multiple types, 115700 (3), Autosomal dominant	Crygd,Cryge,Crygf (MGI:88524,MGI:88525,MGI:88526)
chr2	208128137	208129828	2q33-q35	2q33.3	123680	CRYGC, CRYG3, CTRCT2, CCL	Crystallin, gamma C	CRYGC	1420	ENSG00000163254		Cataract 2, multiple types, 604307 (3), Autosomal dominant	Crygc (MGI:88523)
chr2	208142573	208146158	2q33-q35	2q33.3	123670	CRYGB, CRYG2, CTRCT39	Crystallin, gamma B	CRYGB	1419	ENSG00000182187		Cataract 39, multiple types, autosomal dominant, 615188 (3), Autosomal dominant	Crygb (MGI:88522)
chr2	208160740	208163589	2q33-q35	2q33.3	123660	CRYGA, CRYG1	Crystallin, gamma A	CRYGA	1418	ENSG00000168582			Cryga (MGI:88521)
chr2	208165347	208190030	2q34	2q33.3	615536	C2orf80, GONDA1	Chromosome 2 open reading frame 80	C2orf80	389073	ENSG00000188674			D630023F18Rik (MGI:2138198)
chr2	208200001	230100000	2q34-q36		185900	DUP2q35, C2DUPq35, SDTY1, SD1	Chromosome 2q35 duplication syndrome (syndactyly, type I)				phenotypes due to different-sized duplications of 2q35	Craniosynostosis, Philadelphia type, with syndactyly, 185900 (4), Autosomal dominant; Syndactyly, type 1, 185900 (4), Autosomal dominant	
chr2	208200001	214500000	2q34		601318	IDDM13	Insulin-dependent diabetes mellitus-13		3412			{Diabetes mellitus, insulin-dependent, 13}, 601318 (2)	
chr2	208200001	220700000	2q34-q35		607966	SLEN2	Systemic lupus erythematosus with nephritis, susceptibility to, 2		192679			{Systemic lupus erythematosus with nephritis, susceptibility to, 2}, 607966 (2)	
chr2	208200001	214500000	2q34		186860	TCL4	T-cell leukemia/lymphoma-4		6946			Leukemia/lymphoma, T-cell, 186860 (2)	
chr2	208236227	208255071	2q33.3	2q34	147700	IDH1	Isocitrate dehydrogenase (NADP+) 1	IDH1	3417	ENSG00000138413		{Glioma, susceptibility to, somatic}, 137800 (3)	Idh1 (MGI:96413)
chr2	208266056	208358746	2q35	2q34	609414	PIKFYVE, PIP5K3	Phosphatidylinositol kinase, FYVE-finger containing	PIKFYVE	200576	ENSG00000115020		Corneal fleck dystrophy, 121850 (3), Autosomal dominant	Pikfyve (MGI:1335106)
chr2	208359692	208494506	2q33	2q34	601469	PTHR2	Parathyroid hormone receptor 2	PTH2R	5746	ENSG00000144407			Pth2r (MGI:2180917)
chr2	209424047	209734112	2q34-q35	2q34	157130	MAP2	Microtubule-associated protein-2	MAP2	4133	ENSG00000078018			Map2 (MGI:97175)
chr2	209771832	209999296	2q35	2q34	612636	UNC80, C2orf21, KIAA1843	Unc-80 homolog, NALCN channel complex subunit	UNC80	285175	ENSG00000144406		Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive	Unc80 (MGI:2652882)
chr2	210002638	210022260	2q32-q33.3	2q34	180480	RPE	Ribulose 5-phosphate 3-epimerase	RPE	6120	ENSG00000197713			Rpe (MGI:1913896)
chr2	210021421	210172760	2q34	2q34	613833	KANSL1L, C2orf67, MSL1V2	KAT8 regulatory NSL complex subunit 1-like	KANSL1L	151050	ENSG00000144445			Kansl1l (MGI:1915941)
chr2	210187923	210225447	2q34-q35	2q34	609576	ACADL, LCAD	Acyl-Coenzyme A dehydrogenase, long chain	ACADL	33	ENSG00000115361			Acadl (MGI:87866)
chr2	210290150	210315174	2q32.1-qter	2q34	160780	MYL1, CMYO14	Myosin, light polypeptide-1, alkali, skeletal, fast	MYL1	4632	ENSG00000168530		Congenital myopathy 14, 618414 (3), Autosomal recessive	Myl1 (MGI:97269)
chr2	210431251	210477584	2q34	2q34	604155	LANCL1, GPR69A	LanC-like 1 (G protein-coupled receptor 69A)	LANCL1	10314	ENSG00000115365			Lancl1 (MGI:1336997)
chr2	210477685	210679107	2q35	2q34	608307	CPS1, PHN	Carbamoyl-phosphate synthetase 1, mitochondrial	CPS1	1373	ENSG00000021826	urea cycle enzyme	Carbamoylphosphate synthetase I deficiency, 237300 (3), Autosomal recessive; {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)	Cps1 (MGI:891996)
chr2	211375717	212538802	2q34	2q34	600543	ERBB4, HER4, ALS19	Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4	ERBB4	2066	ENSG00000178568		Amyotrophic lateral sclerosis 19, 615515 (3), Autosomal dominant	Erbb4 (MGI:104771)
chr2	212999698	213152456	2q34	2q34	606234	IKZF2, ANF1A2, HELIOS	Ikaros family zinc finger 2	IKZF2	22807	ENSG00000030419			Ikzf2 (MGI:1342541)
chr2	213284464	214410501	2q34	2q34	612173	SPAG16, PF20	Sperm-associated antigen 16	SPAG16	79582	ENSG00000144451			Spag16 (MGI:1913972)
chr2	214411054	214578976	2q34-q35	2q34-q35	619794	VWC2L	von Willebrand factor C domain-containing protein 2-like	VWC2L	402117	ENSG00000174453			Vwc2l (MGI:2444069)
chr2	214500001	220700000	2q35		607949	MTBS1	Mycobacterium tuberculosis, susceptibility to infection by		404716			{Tuberculosis, susceptibility to}, 607949 (2)	
chr2	214500001	220700000	2q35		613016	NBLST5	Neuroblastoma, susceptibility to, 5		100306938		associated with rs6435862, rs3768716	{Neuroblastoma, susceptibility to, 5}, 613016 (2)	
chr2	214725646	214809683	2q34-q35	2q35	601593	BARD1	BRCA1-associated RING domain 1	BARD1	580	ENSG00000138376		{Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant	Bard1 (MGI:1328361)
chr2	214931542	215138626	2q34	2q35	607800	ABCA12, ARCI4A, ARCI4B, ICR2B, LI2	ATP-binding cassette, subfamily A, member 12	ABCA12	26154	ENSG00000144452		Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3), Autosomal recessive; Ichthyosis, congenital, autosomal recessive 4A, 601277 (3), Autosomal recessive	Abca12 (MGI:2676312)
chr2	215312059	215368592	2q35	2q35	601731	ATIC, PURH, AICAR	5-aminoimidazole-4-carboxyamide ribonucleotide formyltransferase/IMP cyclohydrolase	ATIC	471	ENSG00000138363		AICA-ribosiduria due to ATIC deficiency, 608688 (3), Autosomal recessive	Atic (MGI:1351352)
chr2	215360865	215436068	2q34	2q35	135600	FN1, FN, LETS, FNZ, GFND2, SMDCF	Fibronectin-1	FN1	2335	ENSG00000115414		Spondylometaphyseal dysplasia, corner fracture type, 184255 (3), Autosomal dominant; Glomerulopathy with fibronectin deposits 2, 601894 (3), Autosomal dominant	Fn1 (MGI:95566)
chr2	215939308	216034096	2q35	2q35	609207	MREG, DSU	Melanoregulin	MREG	55686	ENSG00000118242			Mreg (MGI:2151839)
chr2	216029088	216081809	2q35	2q35	605843	PECR, TERP	Peroxisomal trans-2-enoyl-CoA reductase	PECR	55825	ENSG00000115425			Pecr (MGI:2148199)
chr2	216109348	216206293	2q35	2q35	194364	XRCC5	X-ray repair cross complementing 5	XRCC5	7520	ENSG00000079246	included in YAC contig spanning 2q33-q34		Xrcc5 (MGI:104517)
chr2	216257865	216372483	2q35	2q35	608208	MARCH4, RNF174, KIAA1399	Membrane-associated RING-CH finger protein 4	MARCHF4	57574	ENSG00000144583			Marchf4 (MGI:2683550)
chr2	216412484	216483053	2q34-q36	2q35	606622	SMARCAL1, HARP, SIOD	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like	SMARCAL1	50485	ENSG00000138375		Schimke immunoosseous dysplasia, 242900 (3), Autosomal recessive	Smarcal1 (MGI:1859183)
chr2	216498844	216504086	2q35	2q35	613314	RPL37A	Ribosomal protein L37A	RPL37A	6168	ENSG00000197756			Rpl37a (MGI:98068)
chr2	216632828	216664436	2q33-q34	2q35	146731	IGFBP2	Insulin-like growth factor-binding protein-2, 36kD	IGFBP2	3485	ENSG00000115457			Igfbp2 (MGI:96437)
chr2	216672105	216695549	2q33-q36	2q35	146734	IGFBP5, IBP5	Insulin-like growth factor-binding protein 5	IGFBP5	3488	ENSG00000115461			Igfbp5 (MGI:96440)
chr2	216859458	216860064	2q35-q36	2q35	190231	TNP1	Transition protein-1	TNP1	7141	ENSG00000118245			Tnp1 (MGI:98784)
chr2	217284019	217790443	2q35	2q35	608262	DIRC3	Disrupted in renal carcinoma 3	DIRC3	729582	ENSG00000231672			
chr2	217799791	218033982	2q35-q36	2q35	600076	TNS1, TNS	Tensin 1	TNS1	7145	ENSG00000079308			Tns1 (MGI:104552)
chr2	218034934	218090652	2q35	2q35	620994	RUFY4	RUN and FYVE domains-containing protein 4	RUFY4	285180	ENSG00000188282			Rufy4 (MGI:3588214)
chr2	218125294	218137251	2q35	2q35	146928	CXCR2, IL8RB, IL8R2, WHIMS2	Chemokine, CXC motif, receptor 2	CXCR2	3579	ENSG00000180871	mutation identified in 1 WHIMS2 family	?WHIM syndrome 2, 619407 (3), Autosomal recessive	Cxcr2 (MGI:105303)
chr2	218162841	218166962	2q35	2q35	146929	CXCR1, IL8RA	Chemokine, CXC motif, receptor 1	CXCR1	3577	ENSG00000163464		{AIDS, slow progression to}, 609423 (3)	Cxcr1 (MGI:2448715)
chr2	218217189	218254348	2q35	2q35	604224	ARPC2, ARC34	Actin-related protein 2/3 complex, subunit 2	ARPC2	10109	ENSG00000163466			Arpc2 (MGI:1923959)
chr2	218259496	218263861	2q35	2q35	610147	GPBAR1, BG37	G protein-coupled bile acid receptor 1	GPBAR1	151306	ENSG00000179921			Gpbar1 (MGI:2653863)
chr2	218264129	218270137	2q35	2q35	603488	AAMP	Angio-associated migratory cell protein	AAMP	14	ENSG00000127837			Aamp (MGI:107809)
chr2	218270519	218346793	2q35	2q35	609023	PNKD, R1, TAHCCP2, KIPP1184, BRP17, FPD1, PDC, DYT8	PNKD metallo-beta-lactamase domain-containing protein	PNKD	25953	ENSG00000127838		Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3), Autosomal dominant	Pnkd (MGI:1930773)
chr2	218274197	218292503	2q35	2q35	610364	TMBIM1, RECS1	Transmembrane BAX inhibitor motif-containing protein 1	TMBIM1	64114	ENSG00000135926			Tmbim1 (MGI:1916910)
chr2	218356857	218368094	2q35	2q35	619387	CATIP, C2orf62	Ciliogenesis-associated TTC17-interacting protein	CATIP	375307	ENSG00000158428	mutation identifed in 1 SPGF54 family	?Spermatogenic failure 54, 619379 (3), Autosomal recessive	Catip (MGI:2685062)
chr2	218382273	218396894	2q35	2q35	600266	NRAMP1, NRAMP, SLC11A1	Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	SLC11A1	6556	ENSG00000018280	within 220 kb of VIL1	{Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3); {Buruli ulcer, susceptibility to}, 610446 (3)	Slc11a1 (MGI:1345275)
chr2	218396351	218405941	2q34	2q35	605323	CTDSP1, NLIIF, SCP1	C-terminal domain of RNA polymerase II polypeptide A, small phosphatase of, 1	CTDSP1	58190	ENSG00000144579			Ctdsp1 (MGI:2654470)
chr2	218402646	218402722	2q35	2q35	612152	MIR26B, MIRN26B	Micro RNA 26B	MIR26B	407017	ENSG00000199121			Mir26b (MGI:2676901)
chr2	218419123	218453295	2q35	2q35	193040	VIL1	Villin-1	VIL1	7429	ENSG00000127831			Vil1 (MGI:98930)
chr2	218450251	218568351	2q35	2q35	620226	USP37	Ubiquitin-specific peptidase 37	USP37	57695	ENSG00000135913			Usp37 (MGI:2442483)
chr2	218568839	218597080	2q35	2q35	612054	CNOT9, RQCD1, RCD1	CCR4-NOT transcription complex subunit 9	CNOT9	9125	ENSG00000144580			Cnot9 (MGI:1928902)
chr2	218607899	218637175	2q35	2q35	605939	PLCD4	Phospholipase C, delta-4	PLCD4	84812	ENSG00000115556			Plcd4 (MGI:107469)
chr2	218633329	218659623	2q35	2q35	604083	ZNF142, NEDISHM	Zinc finger protein-142	ZNF142	7701	ENSG00000115568		Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 (3), Autosomal recessive	Zfp142 (MGI:1924514)
chr2	218658743	218663443	2q33	2q35	603647	BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	BCS1L	617	ENSG00000074582		GRACILE syndrome, 603358 (3), Autosomal recessive; Mitochondrial complex III deficiency, nuclear type 1, 124000 (3), Autosomal recessive; Bjornstad syndrome, 262000 (3), Autosomal recessive	Bcs1l (MGI:1914071)
chr2	218663892	218672002	2q35	2q35	616014	RNF25, AO7	RING finger protein 25	RNF25	64320	ENSG00000163481			Rnf25 (MGI:1890215)
chr2	218672086	218702717	2q35	2q35	607652	STK36, FU, KIAA1278, CILD46	Serine/threonine protein kinase 36	STK36	27148	ENSG00000163482	mutation identified in 1 CILD46 patient	?Ciliary dyskinesia, primary, 46, 619436 (3), Autosomal recessive	Stk36 (MGI:1920831)
chr2	218710835	218759724	2q35	2q35	618738	TTLL4	Tubulin tyrosine ligase-like 4	TTLL4	9654	ENSG00000135912			Ttll4 (MGI:1914784)
chr2	218782147	218815293	2q33-qter	2q35	606530	CYP27A1, CYP27, CTX	Cytochrome P450, subfamily XXVIIA, polypeptide 1 (sterol 27-hydroxylase)	CYP27A1	1593	ENSG00000135929		Cerebrotendinous xanthomatosis, 213700 (3), Autosomal recessive	Cyp27a1 (MGI:88594)
chr2	218822308	218831803	2q35	2q35	604976	PRKAG3, SMGMQTL	Protein kinase, AMP-activated, noncatalytic, gamma 3	PRKAG3	53632	ENSG00000115592		[Skeletal muscle glycogen content and metabolism QTL], 619030 (3), Autosomal recessive	Prkag3 (MGI:1891343)
chr2	218859805	218874233	2q35	2q35	604663	WNT6	Wingless-type MMTV integration site family, member 6	WNT6	7475	ENSG00000115596			Wnt6 (MGI:98960)
chr2	218874116	218893928	2q35	2q35	606268	WNT10A, SSPS, STHAG4, ECTD16, OODD	Wingless-type MMTV integration site family, member 10A	WNT10A	80326	ENSG00000135925		Schopf-Schulz-Passarge syndrome, 224750 (3), Autosomal recessive; Tooth agenesis, selective, 4, 150400 (3), Autosomal recessive, Autosomal dominant; Ectodermal dysplasia 16 (odontoonychodermal dysplasia), 257980 (3), Autosomal recessive	Wnt10a (MGI:108071)
chr2	218959666	218962155	2q35	2q35	603764	CDK5R2, NCK5AI	Cyclin-dependent kinase 5, regulatory subunit 2	CDK5R2	8941	ENSG00000171450			Cdk5r2 (MGI:1330828)
chr2	218981087	218985184	2q36	2q35	607150	FEV	FEV transcription factor, ETS family member	FEV	54738	ENSG00000163497	fused with EWS in tumors		Fev (MGI:2449712)
chr2	218990190	218993422	2q34-q36	2q35	600836	CRYBA2, CTRCT42	Crystallin, beta A2	CRYBA2	1412	ENSG00000163499	mutation identified in 1 CTRCT42 family	?Cataract 42, 115900 (3), Autosomal dominant	Cryba2 (MGI:104336)
chr2	219001645	219001708	2q35	2q35	611173	MIR375, MIRN375	Micro RNA 375	MIR375	494324	ENSG00000198973			Mir375 (MGI:3619376)
chr2	219002846	219041551	2q35	2q35	614270	CFAP65, CCDC108, SPGF40	Cilia- and flagella-associated protein 65	CFAP65	255101	ENSG00000181378		Spermatogenic failure 40, 618664 (3), Autosomal recessive	Cfap65 (MGI:2444274)
chr2	219054424	219060921	2q33-q35	2q35	600726	IHH, BDA1	Indian hedgehog	IHH	3549	ENSG00000163501		Acrocapitofemoral dysplasia, 607778 (3), Autosomal recessive; Brachydactyly, type A1, 112500 (3), Autosomal dominant	Ihh (MGI:96533)
chr2	219069357	219160815	2q35	2q35	611290	NHEJ1, XLF, IMD124, MCOPCB13	Nonhomologous end-joining factor 1	NHEJ1	79840	ENSG00000187736		Microphthalmia/coloboma 13, 620968 (3), Autosomal recessive; Immunodeficiency 124, severe combined, 611291 (3), Autosomal recessive	Nhej1 (MGI:1922820)
chr2	219161465	219170029	2q35	2q35	620339	SLC23A3, YSPL1	Solute carrier family 23, member 3	SLC23A3	151295	ENSG00000213901			Slc23a3 (MGI:104516)
chr2	219206782	219209648	2q35	2q35	613474	ZFAND2B, AIRAPL	Zinc finger AN1 domain-containing protein 2B	ZFAND2B	130617	ENSG00000158552			Zfand2b (MGI:1916068)
chr2	219209772	219218958	2q36	2q35	605452	ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2	ATP-binding cassette, subfamily B, member 6	ABCB6	10058	ENSG00000115657		Dyschromatosis universalis hereditaria 3, 615402 (3), Autosomal dominant; [Blood group, Langereis system], 111600 (3); Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3), Autosomal dominant; Microphthalmia/coloboma 7, 614497 (3), Autosomal dominant	Abcb6 (MGI:1921354)
chr2	219219380	219229636	2q35	2q35	612204	ATG9A, APG9L1	Autophagy related 9A	ATG9A	79065	ENSG00000198925			Atg9a (MGI:2138446)
chr2	219229806	219236679	2q35	2q35	617541	ANKZF1, ZNF744	Ankyrin repeat- and zinc finger domain-containing 1	ANKZF1	55139	ENSG00000163516			Ankzf1 (MGI:1098746)
chr2	219245479	219250337	2q35	2q35	604719	STK16, TSF1	Serine/threonine protein kinase 16	STK16	8576	ENSG00000115661			Stk16 (MGI:1313271)
chr2	219249710	219254740	2q35	2q35	191110	TUBA4A, TUBA1, ALS22	Tubulin, alpha-4A	TUBA4A	7277	ENSG00000127824		Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 (3), Autosomal dominant	Tuba4a (MGI:1095410)
chr2	219279366	219286895	2q35	2q35	604139	DNAJB2, HSJ1, HSPF3, HMNR5	DNAJ/HSP40 homolog, subfamily B, member 2	DNAJB2	3300	ENSG00000135924		Neuronopathy, distal hereditary motor, autosomal recessive 5, 614881 (3), Autosomal recessive	Dnajb2 (MGI:1928739)
chr2	219289623	219309401	2q35-q36.1	2q35	601773	PTPRN, IA2	Protein tyrosine phosphatase, receptor type N (islet cell antigen 2)	PTPRN	5798	ENSG00000054356			Ptprn (MGI:102765)
chr2	219327407	219336656	2q35	2q35	612721	RESP18	Regulated endocrine-specific protein 18	RESP18	389075	ENSG00000182698			Resp18 (MGI:1098222)
chr2	219372043	219400007	2q35	2q35	611367	DNPEP, ASPEP, DAP	Aspartyl aminopeptidase	DNPEP	23549	ENSG00000123992			Dnpep (MGI:1278328)
chr2	219418377	219426734	2q35	2q35	125660	DES, CMD1I, MFM1, SCPNK	Desmin	DES	1674	ENSG00000175084		Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3), Autosomal dominant; Cardiomyopathy, dilated, 1I, 604765 (3), Autosomal dominant; Myopathy, myofibrillar, 1, 601419 (3), Autosomal recessive, Autosomal dominant	Des (MGI:94885)
chr2	219434843	219493629	2q35	2q35	615950	SPEG, APEG1, CNM5	SPEG complex locus	SPEG	10290	ENSG00000072195		Centronuclear myopathy 5, 615959 (3), Autosomal recessive	Speg (MGI:109282)
chr2	219498891	219506989	2q35	2q35	615495	GMPPA, AAMR	GDP-mannose pyrophosphorylase A	GMPPA	29926	ENSG00000144591		Alacrima, achalasia, and impaired intellectual development syndrome, 615510 (3), Autosomal recessive	Gmppa (MGI:1916330)
chr2	219507093	219538772	2q35-q36	2q35	606715	ACCN4, ASIC4, BNAC4	Cation channel, amiloride-sensitive, neuronal, 4	ASIC4	55515	ENSG00000072182			Asic4 (MGI:2652846)
chr2	219538954	219543809	2q36.1	2q35	610405	CHPF, CSS2	Chondroitin polymerizing factor	CHPF	79586	ENSG00000123989			Chpf (MGI:106576)
chr2	219547206	219571539	2q35	2q35	610991	OBSL1, KIAA0657, 3M2	Obscurin-like 1	OBSL1	23363	ENSG00000124006		3-M syndrome 2, 612921 (3), Autosomal recessive	Obsl1 (MGI:2138628)
chr2	219572310	219575711	2q33-q36	2q35	147380	INHA	Inhibin, alpha	INHA	3623	ENSG00000123999	proximal to PAX3		Inha (MGI:96569)
chr2	219597857	219616451	2q36	2q35	607172	STK11IP, KIAA1898, LIP1	Serine/threonine kinase 11 interacting protein	STK11IP	114790	ENSG00000144589			Stk11ip (MGI:1918978)
chr2	219627630	219641971	2q36	2q35	106195	SLC4A3, SLC2C, AE3, SQT7	Solute carrier family 4 (anion exchanger), member 3	SLC4A3	6508	ENSG00000114923		Short QT syndrome 7, 620231 (3), Autosomal dominant	Slc4a3 (MGI:109350)
chr2	220700001	230100000	2q36		102510	ACRPV	Acropectorovertebral dysplasia (F syndrome)		414058			Acropectorovertebral dysplasia, 102510 (2), Autosomal dominant	
chr2	220700001	230100000	2q36		613944	IGAN2	IgA nephropathy, susceptibility to, 2		100653384		between D2S1323 and D2S362	{IgA nephropathy, susceptibility to, 2}, 613944 (2), ?Autosomal dominant	
chr2	220700001	230100000	2q36.1-q36.3		613238	SPDA3	Spondyloarthropathy, susceptibility to, 3		100379218		max lod at D2S2228	{Spondyloarthropathy, susceptibility to, 3}, 613238 (2)	
chr2	221418027	221574202	2q36.1	2q36.1	602188	EPHA4, HEK8, TYRO1	Ephrin receptor EphA4	EPHA4	2043	ENSG00000116106			Epha4 (MGI:98277)
chr2	222199887	222298998	2q36.1	2q36.1	606597	PAX3, WS1, HUP2, CDHS, WS3	Paired box homeotic gene-3	PAX3	5077	ENSG00000135903		Craniofacial-deafness-hand syndrome, 122880 (3), Autosomal dominant; Waardenburg syndrome, type 3, 148820 (3), Autosomal recessive, Autosomal dominant; Waardenburg syndrome, type 1, 193500 (3), Autosomal dominant; Rhabdomyosarcoma 2, alveolar, 268220 (3), Somatic mutation	Pax3 (MGI:97487)
chr2	222423988	222562621	2q36.1	2q36.1	612827	SGPP2, SPP2	Sphingosine-1-phosphate phosphatase 2	SGPP2	130367	ENSG00000163082			Sgpp2 (MGI:3589109)
chr2	222566899	222656092	2q36	2q36.1	609690	FARSB, FARSLB, RILDBC1	Phenylalanine-tRNA synthetase-like, beta subunit	FARSB	10056	ENSG00000116120		Rajab interstitial lung disease with brain calcifications 1, 613658 (3), Autosomal recessive	Farsb (MGI:1346035)
chr2	222671658	222709930	2q36.1	2q36.1	610268	MOGAT1, MGAT1, DGAT2L1	Monoacylglycerol O-acyltransferase 1	MOGAT1	116255	ENSG00000124003			Mogat1 (MGI:1915643)
chr2	222861036	222944639	2q34-q35	2q36.1	602371	ACSL3, FACL3, ACS3	Acyl-CoA synthetase long-chain family member 3	ACSL3	2181	ENSG00000123983			Acsl3 (MGI:1921455)
chr2	223052190	223055637	2q35-q36	2q36.1	607775	KCNE4, MIRP3	Potassium channel, voltage-gated, ISK-related subfamily, member 4	KCNE4	23704	ENSG00000152049			Kcne4 (MGI:1891125)
chr2	223596940	223602361	2q35-q36	2q36.1	118930	SCG2, CHGC	Secretogranin II (chromogranin C)	SCG2	7857	ENSG00000171951			Scg2 (MGI:103033)
chr2	223755326	223837582	2q36.1	2q36.1	615781	AP1S3, PSORS15	Adaptor-related protein complex 1, sigma-3 subunit	AP1S3	130340	ENSG00000152056		{Psoriasis 15, pustular, susceptibility to}, 616106 (3), Autosomal dominant	Ap1s3 (MGI:1891304)
chr2	223875348	223945335	2q36.1	2q36.1	618080	WDFY1, FENS1	WD repeat-and FYVE domain-containing protein 1	WDFY1	57590	ENSG00000085449			Wdfy1 (MGI:1916618)
chr2	223950854	223967714	2q36	2q36.1	611849	MRPL44, COXPD16	Mitochondrial ribosomal protein L44	MRPL44	65080	ENSG00000135900		Combined oxidative phosphorylation deficiency 16, 615395 (3), Autosomal recessive	Mrpl44 (MGI:1916413)
chr2	223975045	224039286	2q33-q35	2q36.1	177010	PI7, PN1, SERPINE2	Protease inhibitor 7 (protease nexin I)	SERPINE2	5270	ENSG00000135919	near MYL1; ?COPD susceptibility		Serpine2 (MGI:101780)
chr2	224378698	224402107	2q36.2	2q36.2	618403	FAM124B	Family with sequence similarity 124, member B	FAM124B	79843	ENSG00000124019			Fam124b (MGI:3026880)
chr2	224470150	224585363	2q36	2q36.2	603136	CUL3, PHA2E, NEDAUS	Cullin 3	CUL3	8452	ENSG00000036257		Neurodevelopmental disorder with or without autism or seizures, 619239 (3), Autosomal dominant; Pseudohypoaldosteronism, type IIE, 614496 (3), Autosomal dominant	Cul3 (MGI:1347360)
chr2	224765090	225042468	2q36.2	2q36.2	611518	DOCK10, KIAA0694, ZIZ3	Dedicator of cytokinesis 10	DOCK10	55619	ENSG00000135905			Dock10 (MGI:2146320)
chr2	225397939	225703654	2q36.3	2q36.3	615478	NYPA2, KIAA1486	Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 2	NYAP2	57624	ENSG00000144460			Nyap2 (MGI:2443135)
chr2	226731312	226799820	2q36	2q36.3	147545	IRS1	Insulin receptor substrate-1	IRS1	3667	ENSG00000169047		{Type 2 diabetes mellitus, susceptibility to}, 125853 (3), Autosomal dominant	Irs1 (MGI:99454)
chr2	226800159	226999210	2q36.3	2q36.3	617515	RHBDD1, RRP4, RHBDL4	Rhomboid domain-containing 1	RHBDD1	84236	ENSG00000144468			Rhbdd1 (MGI:1924117)
chr2	226967360	227164488	2q36-q37	2q36.3	120131	COL4A4, ATS2, BFH1	Collagen IV, alpha-4 polypeptide	COL4A4	1286	ENSG00000081052	head-to-head with COL4A4 in same YAC	Hematuria, familial benign, 1, 141200 (3), Autosomal dominant; Alport syndrome 2, autosomal recessive, 203780 (3), Autosomal recessive	Col4a4 (MGI:104687)
chr2	227164624	227314792	2q36-q37	2q36.3	120070	COL4A3, ATS3A, ATS3B, BFH2	Collagen IV, alpha-3 polypeptide (Goodpasture antigen)	COL4A3	1285	ENSG00000169031	noncollagenous domain = Goodpasture antigen	Alport syndrome 3A, autosomal dominant, 104200 (3), Autosomal dominant; Hematuria, benign familial, 2, 620320 (3), Autosomal dominant; Alport syndrome 3B, autosomal recessive, 620536 (3), Autosomal recessive	Col4a3 (MGI:104688)
chr2	227325251	227357836	2q36.3	2q36.3	614785	MFF, C2orf33, EMPF2	Mitochondrial fission factor	MFF	56947	ENSG00000168958		Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3), Autosomal recessive	Mff (MGI:1922984)
chr2	227362038	227381647	2q36.3	2q36.3	615404	TM4SF20, SLI5	Transmembrane 4 L6 family, member 20	TM4SF20	79853	ENSG00000168955		{Specific language impairment 5}, 615432 (3), Autosomal dominant	Tm4sf20 (MGI:1913511)
chr2	227472156	227561217	2q36	2q36.3	600862	AGFG1, HRB, RIP, RAB	ADP-ribosylation factor GTPase-activating protein with FG repeats 1	AGFG1	3267	ENSG00000173744			Agfg1 (MGI:1333754)
chr2	227683763	227718028	2q36.3	2q36.3	606152	SLC19A3, THMD2, BBGD	Solute carrier family 19 (folate transporter), member 3	SLC19A3	80704	ENSG00000135917		Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type), 607483 (3), Autosomal recessive	Slc19a3 (MGI:1931307)
chr2	227813842	227817556	2q33-q37	2q36.3	601960	CCL20, SCYA20, MIP3A, LARC	Chemokine, C-C motif, ligand 20	CCL20	6364	ENSG00000115009			Ccl20 (MGI:1329031)
chr2	227871631	227924344	2q36.3	2q36.3	620279	DAW1, WDR69, ODA16, CILD52	Dynein assembly factor with WD repeats 1	DAW1	164781	ENSG00000123977		Ciliary dyskinesia, primary, 52, 620570 (3), Autosomal recessive	Daw1 (MGI:1923089)
chr2	227979955	228181687	2q36	2q36.3	611646	SPHKAP, SKIP, KIAA1678	SPHK1 interactor, AKAP domain containing	SPHKAP	80309	ENSG00000153820			Sphkap (MGI:1924879)
chr2	229023973	229271287	2q36.3	2q36.3	612930	PID1, NYGGF4	Phosphotyrosine interaction domain-containing 1	PID1	55022	ENSG00000153823			Pid1 (MGI:2138391)
chr2	229357629	229714555	2q37	2q36.3	607299	DNER	Delta-and notch-like egf-related receptor	DNER	92737	ENSG00000187957			Dner (MGI:2152889)
chr2	229763837	229923186	2q36.3	2q36.3	604506	TRIP12, MRD49	Thyroid hormone receptor interactor 12	TRIP12	9320	ENSG00000153827		Intellectual developmental disorder, autosomal dominant 49, 617752 (3), Autosomal dominant	Trip12 (MGI:1309481)
chr2	229922503	230013119	2q37.1	2q36.3	609105	FBXO36, FBX36	F-box only protein 36	FBXO36	130888	ENSG00000153832			Fbxo36 (MGI:1289192)
chr2	230100001	242193529	2q37		600430	BDMR, C2DELq37, DEL2q37	Chromosome 2q37 deletion syndrome					Chromosome 2q37 deletion syndrome, 600430 (4), Autosomal dominant	
chr2	230100001	242193529	2q37.1-q37.3		605934	HPE6	Holoprosencephaly 6		117190			Holoprosencephaly 6, 605934 (2)	
chr2	230100001	234700000	2q37.1		609995	MYP12	Myopia 12		664780		max lod at D2S2344	Myopia 12, 609995 (2)	
chr2	230100001	234700000	2q37.1		613440	STQTL21	Stature quantitative trait locus 21		100502568		associated with rs6717918	{Stature QTL 21}, 613440 (2)	
chr2	230165186	230225636	2q37.1	2q37.1	604457	SP110, IFI41, IFI75, VODI	SP110 nuclear body protein (interferon-induced protein 41, 30kD; interferon-induced protein 75, 52kD)	SP110	3431	ENSG00000135899		{Mycobacterium tuberculosis, susceptibility to}, 607948 (3); Hepatic venoocclusive disease with immunodeficiency, 235550 (3), Autosomal recessive	Sp110,Sp110-ps1,Sp110-ps2 (MGI:1923364,MGI:3783195,MGI:3783243)
chr2	230186151	230316571	2q37.1	2q37.1	608602	SP140, LYSP100	Nuclear body protein sp140	SP140	11262	ENSG00000079263			Sp140,Sp140l1,Sp140l2 (MGI:3037746,MGI:3612702,MGI:3702467)
chr2	230327193	230403732	2q37.1	2q37.1	617747	SP140L	Nuclear body protein SP140-like	SP140L	93349	ENSG00000185404			Sp140 (MGI:3702467)
chr2	230416201	230545606	2q37.1	2q37.1	604585	SP100	Nuclear antigen SP100	SP100	6672	ENSG00000067066			Sp100 (MGI:109561)
chr2	230712842	230821075	2q37.1	2q37.1	612174	CAB39	Calcium-binding protein 39	CAB39	51719	ENSG00000135932			Cab39 (MGI:107438)
chr2	230864185	230879254	2q37	2q37.1	609554	ITM2C, BRI3	Integral membrane protein 2C	ITM2C	81618	ENSG00000135916			Itm2c (MGI:1927594)
chr2	230907328	230961201	2q37	2q37.1	604107	GPR55	G protein-coupled receptor 55	GPR55	9290	ENSG00000135898			Gpr55 (MGI:2685064)
chr2	230996121	231020109	2q37.1	2q37.1	619857	SPATA3, TSARG1	Spermatogenesis-associated protein 3	SPATA3	130560	ENSG00000173699			Spata3 (MGI:1917310)
chr2	231056867	231172827	2q37.1	2q37.1	617842	PSMD1	Proteasome 26S subunit, non-ATPase, 1	PSMD1	5707	ENSG00000173692			Psmd1 (MGI:1917497)
chr2	231108230	231125042	2q36.3-q37.1	2q37.1	601122	HTR2B	5-hydroxytryptamine (serotonin) receptor-2B	HTR2B	3357	ENSG00000135914			Htr2b (MGI:109323)
chr2	231198631	231376848	2q37.1	2q37.1	617612	ARMC9, KIAA1868, JBTS30	Armadillo repeat-containing protein 9	ARMC9	80210	ENSG00000135931		Joubert syndrome 30, 617622 (3), Autosomal recessive	Armc9 (MGI:1926045)
chr2	231395710	231401164	2q37.1	2q37.1	615313	B3GNT7	Beta-1,3-N-acetylglucosaminyltransferase 7	B3GNT7	93010	ENSG00000156966			B3gnt7 (MGI:2384394)
chr2	231453531	231464484	2q12-qter	2q37.1	164035	NCL	Nucleolin	NCL	4691	ENSG00000115053			Ncl (MGI:97286)
chr2	231456444	231456523	2q37.1	2q37.1	604012	RNU20	RNA, U20 small nucleolar	SNORD20	6082	ENSG00000207280			
chr2	231460368	231460442	2q12-qter	2q37.1	611133	SNORD82, RNU82	Small nucleolar RNA, C/D box, 82	SNORD82	25826	ENSG00000202400			Snord82 (MGI:1931502)
chr2	231518455	231530445	2q37.1	2q37.1	604153	NMUR1, GPR66, FM3	Neuromedin U receptor 1	NMUR1	10316	ENSG00000171596			Nmur1 (MGI:1341898)
chr2	231708525	231713551	2q36-q37	2q37.1	188390	PTMA, TMSA	Prothymosin, alpha (gene sequence 28)	PTMA	5757	ENSG00000187514			Ptma (MGI:97803)
chr2	231732433	231781282	2q36-q37	2q37.1	602676	PDE6D, JBTS22	Phosphodiesterase 6D	PDE6D	5147	ENSG00000156973		Joubert syndrome 22, 615665 (3), Autosomal recessive	Pde6d (MGI:1270843)
chr2	231781671	231809253	2q37.1	2q37.1	616010	COPS7B	COP9 signalosome, subunit 7B	COPS7B	64708	ENSG00000144524			Cops7b (MGI:1349388)
chr2	231921809	231926396	2q24-qter	2q37.1	600296	NPPC	Natriuretic peptide precursor C	NPPC	4880	ENSG00000163273			Nppc (MGI:97369)
chr2	231961713	232344350	2q37.2	2q37.1	614184	DIS3L2, PRLMNS	DIS3 like exosome 3'-5' exoribonuclease 2	DIS3L2	129563	ENSG00000144535		Perlman syndrome, 267000 (3), Autosomal recessive	Dis3l2 (MGI:2442555)
chr2	232378751	232382889	2q37	2q37.1	171800	ALPP	Alkaline phosphatase, placental (Regan isozyme)	ALPP	250	ENSG00000163283			Alpi (MGI:1924018)
chr2	232406844	232410714	2q37	2q37.1	171810	ALPPL2	Alkaline phosphatase, placental-like 2	ALPG	251	ENSG00000163286			Akp3,Alpi,Alppl2 (MGI:108009,MGI:1924018,MGI:87984)
chr2	232456153	232460753	2q37.1	2q37.1	171740	ALPI	Alkaline phosphatase, intestinal	ALPI	248	ENSG00000163295	close to ALPP; proximal to PAX3		Akp3,Alpi,Alppl2 (MGI:108009,MGI:1924018,MGI:87984)
chr2	232479827	232487834	2q36-q37	2q37.1	605896	ECEL1, XCE, DA5D	Endothelin-converting enzyme-like 1	ECEL1	9427	ENSG00000171551		Arthrogryposis, distal, type 5D, 615065 (3), Autosomal recessive	Ecel1 (MGI:1343461)
chr2	232520388	232525716	2q37.1	2q37.1	613858	PRSS56, MCOP6	Protease, serine, 56	PRSS56	646960	ENSG00000237412		Microphthalmia, isolated 6, 613517 (3), Autosomal recessive	Prss56 (MGI:1916703)
chr2	232526160	232536664	2q33-q34	2q37.1	100720	CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C	Cholinergic receptor, nicotinic, delta polypeptide	CHRND	1144	ENSG00000135902	mutation identified in 1 CMS3A patient and 1 CMS3C family	?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3), Autosomal dominant	Chrnd (MGI:87893)
chr2	232539692	232548115	2q33-q34	2q37.1	100730	CHRNG, ACHRG	Cholinergic receptor, nicotinic, gamma polypeptide	CHRNG	1146	ENSG00000196811	tightly linked to CHRND by RE	Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive; Escobar syndrome, 265000 (3), Autosomal recessive	Chrng (MGI:87895)
chr2	232543883	232550557	2q37.1	2q37.1	612972	TIGD1	TIGGER transposable element-derived gene 1	TIGD1	200765	ENSG00000221944			
chr2	232550689	232583644	2q37.1	2q37.1	605895	EIF4E2, EIF4EL3, 4EHP	Eukaryotic translation initiation factor 4E family, member 2	EIF4E2	9470	ENSG00000135930			Eif4e2 (MGI:1914440)
chr2	232606057	232682776	2q37.1	2q37.1	611617	EFHD1	EF-hand domain family, member D1	EFHD1	80303	ENSG00000115468			Efhd1 (MGI:1921607)
chr2	232697331	232860605	2q37.1	2q37.1	612003	GIGYF2, KIAA0642, PARK11	GRB10-interacting GYF protein 2	GIGYF2	26058	ENSG00000204120		{Parkinson disease 11}, 607688 (3)	Gigyf2 (MGI:2138584)
chr2	232765802	232776565	2q37	2q37.1	603208	KCNJ13, SVD, LCA16	Potassium inwardly-rectifying channel, subfamily J, member 13	KCNJ13	3769	ENSG00000115474		Snowflake vitreoretinal degeneration, 193230 (3), Autosomal dominant; Leber congenital amaurosis 16, 614186 (3), Autosomal recessive	Kcnj13 (MGI:3781032)
chr2	232866451	232878700	2q37.1	2q37.1	620882	SNORC	Secondary ossification center-associated regulator of chondrocyte maturation	SNORC	389084	ENSG00000182600			Snorc (MGI:1920484)
chr2	232878701	233013256	2q37	2q37.1	605991	NGEF	Neuronal guanine nucleotide exchange factor	NGEF	25791	ENSG00000066248			Ngef (MGI:1858414)
chr2	233032672	233035057	2q37	2q37.1	605528	NEU2, SIAL2	Neuraminidase 2	NEU2	4759	ENSG00000115488			Neu2 (MGI:1344417)
chr2	233060342	233207903	2q36-q37	2q37.1	601582	INPP5D, SHIP	Inositol polyphosphate-5-phosphatase, 145kD	INPP5D	3635	ENSG00000168918			Inpp5d (MGI:107357)
chr2	233251673	233295669	2q37.1	2q37.1	610767	ATG16L1, APG16L, IBD10	Autophagy related 16 like 1	ATG16L1	55054	ENSG00000085978		{Inflammatory bowel disease (Crohn disease) 10}, 611081 (3)	Atg16l1 (MGI:1924290)
chr2	233275726	233276003	2q37.1	2q37.1	615640	SCARNA5	Small Cajal body-specific RNA 5	SCARNA5	677775	ENSG00000252010	within intron 9 of ATG16L1		
chr2	233288676	233288941	2q37.1	2q37.1	615641	SCARNA6	Small Cajal body-specific RNA 6	SCARNA6	677772	ENSG00000251791	within intron 12 of ATG16L1		
chr2	233307816	233347055	2q37.1	2q37.1	181031	SAG, RP47, RP96	S-antigen; retina and pineal gland (arrestin)	SAG	6295	ENSG00000130561		Retinitis pigmentosa 47, autosomal recessive, 613758 (3), Autosomal recessive; Retinitis pigmentosa 96, autosomal dominant, 620228 (3), Autosomal dominant; Oguchi disease-1, 258100 (3), Autosomal recessive	Sag (MGI:98227)
chr2	233354494	233472098	2q37.1	2q37.1	601826	DGKD	Diacylglycerol kinase, delta, 130kD	DGKD	8527	ENSG00000077044			Dgkd (MGI:2138334)
chr2	233475526	233566782	2q37.1	2q37.1	610570	USP40	Ubiquitin-specific protease 40	USP40	55230	ENSG00000085982			Usp40 (MGI:2443184)
chr2	233617633	233773300	2q37	2q37.1	606433	UGT1A8	UDP-glycosyltransferase 1 family, polypeptide A8	UGT1A8	54576	ENSG00000242366			Ugt1a10,Ugt1a7c,Ugt1a8,Ugt1a9 (MGI:3032636,MGI:3576090,MGI:3576092,MGI:3580642)
chr2	233636448	233773300	2q37	2q37.1	606435	UGT1A10	UDP-glycosyltransferase 1 family, polypeptide A10	UGT1A10	54575	ENSG00000242515			Ugt1a10,Ugt1a7c,Ugt1a8,Ugt1a9 (MGI:3032636,MGI:3576090,MGI:3576092,MGI:3580642)
chr2	233671898	233773300	2q37	2q37.1	606434	UGT1A9	UDP-glycosyltransferase 1 family, polypeptide A9	UGT1A9	54600	ENSG00000241119			Ugt1a10,Ugt1a7c,Ugt1a8,Ugt1a9 (MGI:3032636,MGI:3576090,MGI:3576092,MGI:3580642)
chr2	233681901	233773300	2q37	2q37.1	606432	UGT1A7	UDP-glycosyltransferase 1 family, polypeptide A7	UGT1A7	54577	ENSG00000244122			Ugt1a10,Ugt1a7c,Ugt1a8,Ugt1a9 (MGI:3032636,MGI:3576090,MGI:3576092,MGI:3580642)
chr2	233691702	233773300	2q37	2q37.1	606431	UGT1A6	UDP-glycosyltransferase 1 family, polypeptide A6	UGT1A6	54578	ENSG00000167165			Ugt1a6a,Ugt1a6b (MGI:2137698,MGI:3580629)
chr2	233712907	233773300	2q37	2q37.1	606430	UGT1A5	UDP-glycosyltransferase 1 family, polypeptide A5	UGT1A5	54579	ENSG00000288705			Ugt1a2,Ugt1a5 (MGI:3032634,MGI:3576049)
chr2	233718736	233773300	2q37	2q37.1	606429	UGT1A4, UGT1D	UDP-glycosyltransferase 1 family, polypeptide A4	UGT1A4	54657	ENSG00000244474			Ugt1a5 (MGI:3032634)
chr2	233729042	233773300	2q37	2q37.1	606428	UGT1A3, UGT1C	UDP-glycosyltransferase 1 family, polypeptide A3	UGT1A3	54659	ENSG00000288702			Ugt1a2 (MGI:3576049)
chr2	233760270	233773300	2q37	2q37.1	191740	UGT1A1, UGT1, GNT1, BILIQTL1	UDP glycosyltransferase 1 family, polypeptide A1	UGT1A1	54658	ENSG00000241635		Crigler-Najjar syndrome, type I, 218800 (3), Autosomal recessive; [Bilirubin, serum level of, QTL1], 601816 (3); Hyperbilirubinemia, familial transient neonatal, 237900 (3), Autosomal recessive, Autosomal dominant; Crigler-Najjar syndrome, type II, 606785 (3), Autosomal recessive; [Gilbert syndrome], 143500 (3), Autosomal recessive	Ugt1a1 (MGI:98898)
chr2	233836702	233854535	2q37.1	2q37.1	612667	HJURP	Holliday junction recognition protein	HJURP	55355	ENSG00000123485			Hjurp (MGI:2685821)
chr2	233917373	234019522	2q37	2q37.1	606678	TRPM8, TRPP8	Transient receptor potential cation channel, subfamily M, member 8	TRPM8	79054	ENSG00000144481			Trpm8 (MGI:2181435)
chr2	234050702	234077134	2q37-qter	2q37.1	602637	SPP2	Secreted phosphoprotein-2, 24kD	SPP2	6694	ENSG00000072080			Spp2 (MGI:1922646)
chr2	234493041	234497081	2q37.1	2q37.1	604787	ARL4C, ARL7	ADP ribosylation factor-like GTPase 4C	ARL4C	10123	ENSG00000188042			Arl4c (MGI:2445172)
chr2	234952017	235055714	2q37.1-q37.2	2q37.2	605611	SH3BP4, BOG25	SH3 domain-binding protein 4	SH3BP4	23677	ENSG00000130147			Sh3bp4 (MGI:2138297)
chr2	235494043	236131793	2q37.2	2q37.2	608651	AGAP1, CENTG2, KIAA1099	Arf GTPase-activating protein with GTPase domain, ankyrin repeat, and pleckstrin homology domain 1	AGAP1	116987	ENSG00000157985			Agap1 (MGI:2653690)
chr2	236161340	236168386	2q36-q37	2q37.2	601135	GBX2	Gastrulation brain homeobox 2	GBX2	2637	ENSG00000168505			Gbx2 (MGI:95668)
chr2	236400001	242193529	2q37.3		605218	SLEB2	Systemic lupus erythematosus, susceptibility to, 2					{Systemic lupus erythematosus, susceptibility to, 2}, 605218 (2)	
chr2	236537122	236582354	2q37	2q37.3	610376	ACKR3, CXCR7, CMKOR1, GPR159, RDC1	Atypical chemokine receptor 3	ACKR3	57007	ENSG00000144476	mutation identified in 1 OCABSN family	?Oculomotor-abducens synkinesis, 619215 (3), Autosomal recessive	Ackr3 (MGI:109562)
chr2	237085889	237100474	2q37.3	2q37.3	616011	COPS8, CSN8	COP9 signalosome, subunit 8	COPS8	10920	ENSG00000198612			Cops8 (MGI:1915363)
chr2	237324018	237414164	2q37	2q37.3	120250	COL6A3, DYT27, BTHLM1C, UCMD1C	Collagen VI, alpha-3 polypeptide	COL6A3	1293	ENSG00000163359	close to CRBP1	Bethlem myopathy 1C, 620726 (3), Autosomal recessive, Autosomal dominant; Ullrich congenital muscular dystrophy 1C, 620728 (3), Autosomal recessive, Autosomal dominant; Dystonia 27, 616411 (3), Autosomal recessive	Col6a3 (MGI:88461)
chr2	237486410	237555322	2q37	2q37.3	606526	MLPH	Melanophilin	MLPH	79083	ENSG00000115648		Griscelli syndrome, type 3, 609227 (3), Autosomal recessive	Mlph (MGI:2176380)
chr2	237566574	237567175	2q37.3	2q37.3	602663	PRLH, PRRP	Prolactin-releasing hormone	PRLH	51052	ENSG00000071677			Prlh (MGI:3644668)
chr2	237574326	237590734	2q37.3	2q37.3	602206	RAB17	Ras-associated protein	RAB17	64284	ENSG00000124839			Rab17 (MGI:104640)
chr2	237627587	237781643	2q37.3	2q37.3	603256	LRRFIP1, GCF2, TRIP, FLAP1	Leucine-rich repeat in FLII-interacting protein 1	LRRFIP1	9208	ENSG00000124831			Lrrfip1 (MGI:1342770)
chr2	237798779	237842805	2q37.3	2q37.3	621038	RBM44	RNA-binding motif protein 44	RBM44	375316	ENSG00000177483			Rbm44 (MGI:2685663)
chr2	237858880	237912106	2q36-q37.1	2q37.3	605153	RAMP1	Receptor activity-modifying protein 1	RAMP1	10267	ENSG00000132329			Ramp1 (MGI:1858418)
chr2	237967014	238042782	2q37.3	2q37.3	617700	UBE2F, NCE2	Ubiquitin-conjugating enzyme E2 F (putative)	UBE2F	140739	ENSG00000184182			Ube2f,Ube2frt (MGI:1915171,MGI:3646221)
chr2	238061001	238099413	2q37.3	2q37.3	611056	SCLY, SCL	Selenocysteine lyase	SCLY	51540	ENSG00000132330			Scly (MGI:1355310)
chr2	238100340	238133287	2q37.3	2q37.3	619974	ESPNL	Espin-like protein	ESPNL	339768	ENSG00000144488			Espnl (MGI:2685402)
chr2	238158970	238168890	2q37.3	2q37.3	615099	ERFE, FAM132B, CTRP15	Erythroferrone	ERFE	151176	ENSG00000178752			Erfe (MGI:3606476)
chr2	238170402	238203695	2q37.3	2q37.3	618909	ILKAP, PP2CD	ILK-associated serine/threonine phosphatase	ILKAP	80895	ENSG00000132323			Ilkap (MGI:1914694)
chr2	238238267	238240038	2q37.3	2q37.3	610331	HES6	Hes family bHLH transcription factor 6	HES6	55502	ENSG00000144485			Hes6 (MGI:1859852)
chr2	238244044	238300065	2q37.3	2q37.3	603426	PER2, FASPS1, KIAA0347	Period circadian regulator 2	PER2	8864	ENSG00000132326	mutation identified in 1 FASPS1 family	?Advanced sleep phase syndrome, familial, 1, 604348 (3), Autosomal dominant	Per2 (MGI:1195265)
chr2	238320518	238400900	2q37.3	2q37.3	607380	TRAF3IP1, MIPT3, SLSN9	TNF receptor-associated factor 3-interacting protein 1	TRAF3IP1	26146	ENSG00000204104		Senior-Loken syndrome 9, 616629 (3), Autosomal recessive	Traf3ip1 (MGI:1921269)
chr2	238426927	238452250	2q37	2q37.3	605758	ASB1	Ankyrin repeat-containing SOCS box protein 1	ASB1	51665	ENSG00000065802			Asb1 (MGI:1929735)
chr2	238848085	238910534	2q37.3	2q37.3	607556	TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS	Twist family bHLH transcription factor 2	TWIST2	117581	ENSG00000233608		Ablepharon-macrostomia syndrome, 200110 (3), Autosomal dominant; Barber-Say syndrome, 209885 (3), Autosomal dominant; Focal facial dermal dysplasia 3, Setleis type, 227260 (3), Autosomal recessive	Twist2 (MGI:104685)
chr2	239048168	239401649	2q37.2	2q37.3	605314	HDAC4, HDACA, NEDCHF	Histone deacetylase 4	HDAC4	9759	ENSG00000068024		Neurodevelopmental disorder with central hypotonia and dysmorphic facies, 619797 (3), Autosomal dominant	Hdac4 (MGI:3036234)
chr2	239892442	240025342	2q37.3	2q37.3	603835	NDUFA10, MC1DN22	NADH-ubiquinone oxidoreductase subunit A10	NDUFA10	4705	ENSG00000130414		Mitochondrial complex I deficiency, nuclear type 22, 618243 (3), Autosomal recessive	Ndufa10 (MGI:1914523)
chr2	240126548	240136347	2q37	2q37.3	619349	COPS9, CSNAP, MYEOV2	COP9 signalosome, subunit 9	COPS9	150678	ENSG00000172428			Cops9 (MGI:1914165)
chr2	240139026	240140658	2q37.3	2q37.3	607877	OTOSP	Otospiralin	OTOS	150677	ENSG00000178602			Otos (MGI:2672814)
chr2	240435663	240468076	2q35-q37	2q37.3	600395	GPC1	Glypican 1	GPC1	2817	ENSG00000063660			Gpc1 (MGI:1194891)
chr2	240456001	240456089	2q37.3	2q37.3	615209	MIR149	Micro RNA 149	MIR149	406941	ENSG00000207611			Mir149 (MGI:2676834)
chr2	240468632	240561064	2q37.3	2q37.3	620842	ANKMY1, ZMYND13	Ankyrin repeat- and MYND domain-containing protein 1	ANKMY1	51281	ENSG00000144504			Ankmy1 (MGI:3045261)
chr2	240568484	240581372	2q37.3	2q37.3	605287	RNPEPL1	Arginyl aminopeptidase-like 1 (aminopeptidase B-like)	RNPEPL1	57140	ENSG00000142327			Rnpepl1 (MGI:1914170)
chr2	240586734	240599104	2q37.3	2q37.3	605286	CAPN10, NIDDM1	Calpain-10	CAPN10	11132	ENSG00000142330		{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)	Capn10 (MGI:1344392)
chr2	240605430	240633159	2q37.3	2q37.3	602646	GPR35	G protein-coupled receptor-35	GPR35	2859	ENSG00000178623			Gpr35 (MGI:1929509)
chr2	240691866	240698483	2q34-q37	2q37.3	609789	AQP12A, AQPX2, AQP12	Aquaporin 12A	AQP12A	375318	ENSG00000184945			Aqp12 (MGI:2664636)
chr2	240713767	240821403	2q37	2q37.3	601255	KIF1A, ATSV, UNC104, SPG30A, SPG30B, HSN2C, MRD9	Kinesin family member 1A	KIF1A	547	ENSG00000130294	incorrectly assigned to chr.9	NESCAV syndrome, 614255 (3), Autosomal dominant; Neuropathy, hereditary sensory, type IIC, 614213 (3), Autosomal recessive; Spastic paraplegia 30, autosomal dominant, 610357 (3), Autosomal dominant; Spastic paraplegia 30, autosomal recessive, 620607 (3), Autosomal recessive	Kif1a (MGI:108391)
chr2	240868824	240880500	2q36-q37	2q37.3	604285	AGXT, SPAT	Alanine-glyoxylate aminotransferase, liver-specific peroxisomal	AGXT	189	ENSG00000172482		Hyperoxaluria, primary, type 1, 259900 (3), Autosomal recessive	Agxt (MGI:1329033)
chr2	240997650	241095568	2q37.3	2q37.3	616634	SNED1, SNEP	SUSHI, NIDOGEN, and EGF-like domains protein 1	SNED1	25992	ENSG00000162804			Sned1 (MGI:3045960)
chr2	241042586	241102287	2q37.3	2q37.3	615393	MTERF4, MTERFD2	Mitochondrial transcription termination factor 4	MTERF4	130916	ENSG00000122085			Mterf4 (MGI:1918355)
chr2	241106099	241150347	2q37.3	2q37.3	607505	PASK, KIAA0135	Pas domain-containing serine-threonine kinase	PASK	23178	ENSG00000115687			Pask (MGI:2155936)
chr2	241149573	241183652	2q37.3	2q37.3	602877	PPP1R7, SDS22	Protein phosphatase 1, regulatory subunit 7	PPP1R7	5510	ENSG00000115685			Ppp1r7 (MGI:1913635)
chr2	241188677	241240308	2q37.3	2q37.3	605096	TMEM16G, PCANAP5, IPCA5, DTMPP, NGEP	Transmembrane protein 16G	ANO7	50636	ENSG00000146205			Ano7 (MGI:3052714)
chr2	241227291	241315672	2q37	2q37.3	142695	HDLBP, VGL	High-density lipoprotein-binding protein	HDLBP	3069	ENSG00000115677			Hdlbp (MGI:99256)
chr2	241315355	241354027	2q37	2q37.3	601506	SEPT2, NEDD5, DIFF6	Septin 2	SEPTIN2	4735	ENSG00000168385			Septin2 (MGI:97298)
chr2	241356285	241494841	2q37.3	2q37.3	617586	FARP2, FRG, FIR	FERM, ARHGEF, and pleckstrin domain-containing protein 2	FARP2	9855	ENSG00000006607			Farp2 (MGI:2385126)
chr2	241492670	241509572	2q37.3	2q37.3	602255	STK25, SOK1, YSK1	Serine/threonine protein kinase 25	STK25	10494	ENSG00000115694			Stk25 (MGI:1891699)
chr2	241551393	241574131	2q37.3	2q37.3	605404	BOK, BCL2L9	BCL2-related ovarian killer	BOK	666	ENSG00000176720			Bok (MGI:1858494)
chr2	241584405	241637576	2q37.3	2q37.3	612533	THAP4	THAP domain-containing protein 4	THAP4	51078	ENSG00000176946			Thap4 (MGI:1914276)
chr2	241637693	241673857	2q37.3	2q37.3	611338	ATG4B, APG4B, KIAA0943	Autophagy related 4B cysteine peptidase	ATG4B	23192	ENSG00000168397			Atg4b (MGI:1913865)
chr2	241675747	241686815	2q37.3	2q37.3	188345	DTYMK, TYMK, CDC8, CONPM	Deoxythymidylate kinase	DTYMK	1841	ENSG00000168393		Neurodegeneration, childhood-onset, with progressive microcephaly, 619847 (3), Autosomal recessive	Dtymk (MGI:108396)
chr2	241687020	241729478	2q37.3	2q37.3	608525	ING5	Inhibitor of growth-5	ING5	84289	ENSG00000168395			Ing5 (MGI:1922816)
chr2	241734630	241768811	2q37.3	2q37.3	609186	D2HGDH, D2HGD	D-2-hydroxyglutarate dehydrogenase	D2HGDH	728294	ENSG00000180902		D-2-hydroxyglutaric aciduria, 600721 (3), Autosomal recessive	D2hgdh (MGI:2138209)
chr2	241776822	241804287	2q37.3	2q37.3	608237	GAL3ST2, GP3ST	Galactose-3-O-sulfotransferase 2	GAL3ST2	64090	ENSG00000154252			Gal3st2,Gal3st2b,Gal3st2c (MGI:2685834,MGI:3646771,MGI:3711964)
chr2	241809193	241817413	2q37.3	2q37.3	608527	NEU4	Neuraminidase 4	NEU4	129807	ENSG00000204099			Neu4 (MGI:2661364)
chr2	241849884	241858894	2q37.3	2q37.3	600244	PDCD1, AIMTBS	Programmed cell death 1	PDCD1	5133	ENSG00000188389	mutation identified in 1 AIMTBS patient	?Autoimmune disease with susceptibility to mycobacterium tuberculosis, 621004 (3), Autosomal recessive	Pdcd1 (MGI:104879)
chr2	1	242193529	Chr.2		601136	TSE2	Transsuppressor of expression 2		57324				
chr3	1	90900001	3p		607135	CRCL	Creatinine clearance QTL		261727		in African Americans	Creatinine clearance QTL, 607135 (2)	
chr3	1	16300000	3pter-p25		613792	DEL3pterp25, C3DELpterp25	3p- syndrome (chromosome 3pter-p25 deletion syndrome)				contiguous gene deletion syndrome	3p- syndrome, 613792 (4), Autosomal dominant	
chr3	1	8100000	3p26		609299	HPC5	Prostate cancer, hereditary, 5		619402		between D3S1270 and D3S4559	{Prostate cancer, hereditary, 5}, 609299 (2)	
chr3	1	8100000	3p26		608448	IBD9	Inflammatory bowel disease 9		317669			{Inflammatory bowel disease 9}, 608448 (2)	
chr3	1	26300000	3p26-p24.2		252350	MYMY1, MYMY	Moyamoya disease		50960		max lod at D3S3050	Moyamoya disease, 252350 (2), Autosomal recessive	
chr3	1	8100000	3p26		608982	STQTL5	Stature quantitative trait locus 5		619479		max lod between D3S1297 and D3S1304	{Stature QTL 5}, 608982 (2)	
chr3	196763	409417	3p26.1	3p26.3	607416	CHL1, CALL, L1CAM2	Cell adhesion molecule L1-like	CHL1	10752	ENSG00000134121			Chl1 (MGI:1098266)
chr3	1093024	1404217	3p26-p25	3p26.3	607220	CNTN6, NB3	Contactin 6	CNTN6	27255	ENSG00000134115			Cntn6 (MGI:1858223)
chr3	2098866	3057959	3p26-p25	3p26.3-p26.2	607280	CNTN4	Contactin 4	CNTN4	152330	ENSG00000144619			Cntn4 (MGI:1095737)
chr3	3066324	3110374	3p26-p24	3p26.2	147851	IL5RA	Interleukin-5 receptor, alpha	IL5RA	3568	ENSG00000091181			Il5ra (MGI:96558)
chr3	3126940	3153435	3p25.1	3p26.2	612907	TRNT1, SIFD, RPEM	tRNA nucleotidyltransferase, CCA-adding, 1	TRNT1	51095	ENSG00000072756	pseudogenes on chromosomes 1 and 22	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3), Autosomal recessive; Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3), Autosomal recessive	Trnt1 (MGI:1917297)
chr3	3149633	3179717	3p26.2	3p26.2	609262	CRBN, MRT2	Cereblon	CRBN	51185	ENSG00000113851	between D3S3525 and D3S1560	Intellectual developmental disorder, autosomal recessive 2, 607417 (3), Autosomal recessive	Crbn (MGI:1913277)
chr3	3799431	3849834	3p26.2	3p26.2	619623	LRRN1, NLRR1	Leucine-rich repeat neuronal protein 1	LRRN1	57633	ENSG00000175928			Lrrn1 (MGI:106038)
chr3	4000001	16300000	3p26.1-p25.1		612976	ARHI2	Age-related hearing impairment 2		100302721		associated with rs11928865, rs779701, and rs779706	{Age-related hearing impairment 2}, 612976 (2)	
chr3	4034486	4467269	3p26	3p26.1	607939	SUMF1, FGE	Sulfatase-modifying factor-1	SUMF1	285362	ENSG00000144455		Multiple sulfatase deficiency, 272200 (3), Autosomal recessive	Sumf1 (MGI:1889844)
chr3	4303369	4317265	3p26	3p26.1	609834	SETMAR, METNASE	SET and Mariner transposase domains-containing protein	SETMAR	6419	ENSG00000170364			Setmar (MGI:1921979)
chr3	4493348	4847506	3p26.1	3p26.1	147265	ITPR1, SCA15, SCA16, SCA29	Inositol 1,4,5-triphosphate receptor, type 1	ITPR1	3708	ENSG00000150995		Gillespie syndrome, 206700 (3), Autosomal recessive, Autosomal dominant; Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3), Autosomal dominant; Spinocerebellar ataxia 15, 606658 (3), Autosomal dominant	Itpr1 (MGI:96623)
chr3	4749192	4751590	3p26.2	3p26.1	611662	EGOT, EGO	Eosinophil granule ontogeny transcript	EGOT	100126791	ENSG00000235947			
chr3	4979437	4985323	3p26	3p26.1	604256	BHLHE40, HLHB2, STRA13, DEC1	Basic helix-loop-helix family, member E40	BHLHE40	8553	ENSG00000134107			Bhlhe40 (MGI:1097714)
chr3	5122292	5180911	3p26.1	3p26.1	616596	ARL8B, GIE1	ADP ribosylation factor-like GTPase 8B	ARL8B	55207	ENSG00000134108			Arl8b (MGI:1914416)
chr3	5187707	5219958	3p26.1	3p26.1	607673	EDEM, KIAA0212	ER degradation-enhancing alpha-mannosidase-like protein	EDEM1	9695	ENSG00000134109			Edem1 (MGI:2180139)
chr3	6861115	7741533	3p26.1	3p26.1	604101	GRM7, MGLUR7, NEDSHBA	Glutamate receptor, metabotropic, 7	GRM7	2917	ENSG00000196277		Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, 618922 (3), Autosomal recessive	Grm7 (MGI:1351344)
chr3	8100001	43600000	3p25-p22		607893	OVCAS1	Ovarian cancer, susceptibility to, 1		574048		between D3S1597 and D3S3611	{Ovarian cancer, susceptibility to}, 607893 (2)	
chr3	8501823	8574668	3p26-p24	3p25.3	604859	LMCD1	LIM and cysteine-rich domains 1	LMCD1	29995	ENSG00000071282			Lmcd1 (MGI:1353635)
chr3	8571782	8574668	3p25.3	3p25.3	610485	LINC00312, LOH3CR2A	Long intergenic non-protein coding RNA 312	LINC00312	29931				
chr3	8619386	8681927	3p26.1-p25.3	3p25.3	617479	SSUH2, C3orf32, FLS485	Ssu-2 homolog	SSUH2	51066	ENSG00000125046			Ssu2 (MGI:2443733)
chr3	8733802	8746758	3p25	3p25.3	601253	CAV3, LQT9, MPDT, RMD2	Caveolin-3	CAV3	859	ENSG00000182533	within 7-10kb of OXTR	Myopathy, distal, Tateyama type, 614321 (3), Autosomal dominant; Creatine phosphokinase, elevated serum, 123320 (3), Autosomal dominant; Cardiomyopathy, familial hypertrophic, 192600 (3), Digenic dominant, Autosomal dominant; Rippling muscle disease 2, 606072 (3), Autosomal dominant; Long QT syndrome 9, 611818 (3), Autosomal dominant	Cav3 (MGI:107570)
chr3	8741269	8769613	3p26.2	3p25.3	167055	OXTR	Oxytocin receptor	OXTR	5021	ENSG00000180914	3p25 by others; within 7-10kb of CAV3		Oxtr (MGI:109147)
chr3	8877075	8963472	3p25-p24	3p25.3	605256	RAD18	RAD18 E3 ubiquitin protein ligase	RAD18	56852	ENSG00000070950			Rad18 (MGI:1890476)
chr3	8980591	9363027	3p25	3p25.3	606525	SRGAP3, KIAA0411, MEGAP	Slit-robo GTPase-activating protein, rho, 3	SRGAP3	9901	ENSG00000196220			Srgap3 (MGI:2152938)
chr3	9397615	9478154	3p25.3	3p25.3	615743	SETD5, KIAA1757, MRD23	SET domain-containing protein 5	SETD5	55209	ENSG00000168137		Intellectual developmental disorder, autosomal dominant 23, 615761 (3), Autosomal dominant	Setd5 (MGI:1920145)
chr3	9498361	9553822	3p25	3p25.3	610240	LHFPL4	LHFP tetraspan subfamily, member 4	LHFPL4	375323	ENSG00000156959			Lhfpl4 (MGI:3057108)
chr3	9649505	9702393	3p25.3	3p25.3	611089	MTMR14, C3orf29, HJUMPY	Myotubularin-related protein 14	MTMR14	64419	ENSG00000163719		{Centronuclear myopathy, autosomal, modifier of}, 160150 (3), Autosomal dominant	Mtmr14 (MGI:1916075)
chr3	9731735	9748015	3p26-p25	3p25.3	602410	BRPF1, BR140, IDDDFP	Bromodomain- and PHD finger-containing protein 1, 140kD	BRPF1	7862	ENSG00000156983		Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3), Autosomal dominant	Brpf1 (MGI:1926033)
chr3	9749952	9783108	3p26.2	3p25.3	601982	OGG1	8-hydroxyguanine DNA glycosylase	OGG1	4968	ENSG00000114026		Renal cell carcinoma, clear cell, somatic, 144700 (3)	Ogg1 (MGI:1097693)
chr3	9757347	9769947	3p25.3	3p25.3	604998	CAMK1, CAMKI	Calcium/calmodulin-dependent protein kinase I	CAMK1	8536	ENSG00000134072			Camk1 (MGI:1098535)
chr3	9779967	9793011	3p25.3	3p25.3	602945	TADA3, TADA3L, ADA3	Transcriptional adaptor 3	TADA3	10474	ENSG00000171148			Tada3 (MGI:1915724)
chr3	9792518	9807101	3p25.3	3p25.3	604226	ARPC4, ARC20, DEVLO	Actin-related protein 2/3 complex, subunit 4	ARPC4	10093	ENSG00000241553		Developmental delay, language impairment, and ocular abnormalities, 620141 (3), Autosomal dominant	Arpc4 (MGI:1915339)
chr3	9809727	9836365	3p25.3	3p25.3	619195	TTLL3	Tubulin tyrosine ligase-like 3	TTLL3	26140	ENSG00000214021			Ttll3 (MGI:2141418)
chr3	9837849	9844008	3p25.3	3p25.3	617759	RPUSD3	RNA pseudouridylate synthase domain-containing protein 3	RPUSD3	285367	ENSG00000156990			Rpusd3 (MGI:2141440)
chr3	9866710	9880253	3p25	3p25.3	612120	CIDEC, FSP27, CIDE3, FPLD5	Cell death-inducing DFFA-like effector C	CIDEC	63924	ENSG00000187288	1 patient identified with mutation	?Lipodystrophy, familial partial, type 5, 615238 (3), Autosomal recessive	Cidec (MGI:95585)
chr3	9890610	9894349	3p25.3	3p25.3	616012	JAGN1, SCN6	Jagunal homolog 1	JAGN1	84522	ENSG00000171135		Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3), Autosomal recessive	Jagn1 (MGI:1915017)
chr3	9902093	9916402	3p25.3	3p25.3	614995	IL17RE	Interleukin 17 receptor E	IL17RE	132014	ENSG00000163701			Il17re (MGI:1889371)
chr3	9917098	9933621	3p25.3-p24.1	3p25.3	610925	IL17RC, IL17RL, CANDF9	Interleukin 17 receptor C	IL17RC	84818	ENSG00000163702		Candidiasis, familial, 9, 616445 (3), Autosomal recessive	Il17rc (MGI:2159336)
chr3	9933834	9945406	3p25.3	3p25.3	607170	CRELD1, AVSD2, JELANS	Cysteine-rich protein with EGF-like domains 1	CRELD1	78987	ENSG00000163703		Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3), Autosomal dominant; Jeffries-Lakhani neurodevelopmental syndrome, 620771 (3), Autosomal recessive; {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3), Autosomal dominant	Creld1 (MGI:2152539)
chr3	9945542	9952408	3p25.3	3p25.3	619993	PRRT3	Proline-rich transmembrane protein 3	PRRT3	285368	ENSG00000163704			Prrt3 (MGI:2444810)
chr3	9947404	9954787	3p25.3	3p25.3	619106	PRRT3AS1	PRRT3 antisense RNA 1, noncoding	PRRT3-AS1	100874032	ENSG00000230082			
chr3	9962682	10011118	3p25.3	3p25.3	620273	EMC3	Endoplasmic reticulum membrane protein complex, subunit 3	EMC3	55831	ENSG00000125037			Emc3 (MGI:1913337)
chr3	10026437	10101932	3p25.3	3p25.3	613984	FANCD2, FANCD, FACD, FAD	Fanconi anemia, complementation group D2	FANCD2	2177	ENSG00000144554		Fanconi anemia, complementation group D2, 227646 (3), Autosomal recessive	Fancd2 (MGI:2448480)
chr3	10081320	10108457	3p25.3	3p25.3	621082	FANCD2OS, C3orf24	FANCD2 opposite strand	FANCD2OS	115795	ENSG00000163705			Fancd2os (MGI:1918229)
chr3	10115675	10127190	3p25.3	3p25.3	611183	BRK1, C3orf10, HSPC300	BRICK1, SCAR/WAVE actin-nucleating complex subunit	BRK1	55845	ENSG00000254999			Brk1 (MGI:1915406)
chr3	10141778	10153667	3p26-p25	3p25.3	608537	VHL	von Hippel-Lindau tumor suppressor	VHL	7428	ENSG00000134086		Hemangioblastoma, cerebellar, somatic (3); Erythrocytosis, familial, 2, 263400 (3), Autosomal recessive; von Hippel-Lindau syndrome, 193300 (3), Autosomal dominant; Renal cell carcinoma, somatic, 144700 (3); Pheochromocytoma, 171300 (3), Autosomal dominant	Vhl (MGI:103223)
chr3	10164919	10243745	3p25.3	3p25.3	603304	IRAK2	Interleukin 1 receptor-associated kinase 2	IRAK2	3656	ENSG00000134070			Irak2 (MGI:2429603)
chr3	10248459	10281218	3p25.3	3p25.3	619330	TATDN2, KIAA0218	TatD DNase domain-containing protein 2	TATDN2	9797	ENSG00000157014			Tatdn2 (MGI:3576210)
chr3	10280952	10293449	3p25.3	3p25.3	618445	GHRLOS	Ghrelin opposite strand, noncoding	GHRLOS	100126793	ENSG00000240288			
chr3	10285666	10292947	3p26-p25	3p25.3	605353	GHRL	Ghrelin	GHRL	51738	ENSG00000157017		{Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant	Ghrl (MGI:1930008)
chr3	10300931	10321112	3p25-p24	3p25.3	600152	SEC13, SEC13L1, D3S1231E, SEC13R	SEC13 homolog, nuclear pore and COPII coat complex component	SEC13	6396	ENSG00000157020			Sec13 (MGI:99832)
chr3	10324023	10708007	3p26-p25	3p25.3	108733	ATP2B2, PMCA2, DFNA82	ATPase, Ca++ transporting, plasma membrane, 2	ATP2B2	491	ENSG00000157087		Deafness, autosomal dominant 82, 619804 (3), Autosomal dominant; {Deafness, autosomal recessive 12, modifier of}, 601386 (3), Autosomal recessive	Atp2b2 (MGI:105368)
chr3	10816228	10940714	3p25.3	3p25.3	607952	SLC6A11, GAT3, GAT4	Solute carrier family 6 (neurotransmitter transporter, GABA), member 11	SLC6A11	6538	ENSG00000132164			Slc6a11 (MGI:95630)
chr3	10992748	11039247	3p25-p24	3p25.3	137165	SLC6A1, GABATR, MAE	Solute carrier family 6 (neurotransmitter transporter, GABA), member 1	SLC6A1	6529	ENSG00000157103		Myoclonic-atonic epilepsy, 616421 (3), Autosomal dominant	Slc6a1 (MGI:95627)
chr3	11137238	11263557	3p21-p14	3p25.3	600167	HRH1	Histamine receptor, subclass H1	HRH1	3269	ENSG00000196639			Hrh1 (MGI:107619)
chr3	11272397	11576353	3p25.3	3p25.3	608760	ATG7, APG7L, GSA7, SCAR31	Autophagy related 7	ATG7	10533	ENSG00000197548		Spinocerebellar ataxia, autosomal recessive 31, 619422 (3), Autosomal recessive	Atg7 (MGI:1921494)
chr3	11556067	11721815	3p25	3p25.3-p25.2	618692	VGLL4, KIAA0121	Vestigial-like family member 4	VGLL4	9686	ENSG00000144560			Vgll4 (MGI:2652840)
chr3	11721896	11846885	3p25.2	3p25.2	614948	TAMM41, RAM41, C3orf31, COXPD56	TAM41 mitochondrial translocator assembly and maintenance homolog	TAMM41	132001	ENSG00000144559		Combined oxidative phosphorylation deficiency 56, 620139 (3), Autosomal recessive	Tamm41 (MGI:1916221)
chr3	12004388	12192032	3p25	3p25.2	600755	SYN2	Synapsin II	SYN2	6854	ENSG00000157152		{Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant	Syn2 (MGI:103020)
chr3	12153068	12158912	3p25	3p25.2	601915	TIMP4	Tissue inhibitor of metalloproteinase 4	TIMP4	7079	ENSG00000157150			Timp4 (MGI:109125)
chr3	12287368	12434344	3p25	3p25.2	601487	PPARG, PPARG1, PPARG2, FPLD3	Peroxisome proliferator activated receptor, gamma	PPARG	5468	ENSG00000132170	PPARG1, PPARG2 from same gene	{Diabetes, type 2}, 125853 (3), Autosomal dominant; Insulin resistance, severe, digenic, 125853 (3), Autosomal dominant; Lipodystrophy, familial partial, type 3, 604367 (3), Autosomal dominant; Obesity, severe, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant	Pparg (MGI:97747)
chr3	12480231	12539624	3p25.1	3p25.2	608753	TSEN2, SEN2, PCH2B	tRNA splicing endonuclease, subunit 2	TSEN2	80746	ENSG00000154743		Pontocerebellar hypoplasia type 2B, 612389 (3), Autosomal recessive	Tsen2 (MGI:2141599)
chr3	12557087	12583713	3p25	3p25.2	608426	MKRN2	Makorin 2	MKRN2	23609	ENSG00000075975			Mkrn2 (MGI:1914277)
chr3	12583601	12664117	3p25	3p25.2	164760	RAF1, CRAF, NS5, CMD1NN	Oncogene RAF1	RAF1	5894	ENSG00000132155		Cardiomyopathy, dilated, 1NN, 615916 (3), Autosomal dominant; Noonan syndrome 5, 611553 (3), Autosomal dominant; LEOPARD syndrome 2, 611554 (3), Autosomal dominant	Raf1 (MGI:97847)
chr3	12796680	12834803	3p25.2	3p25.2	610403	CAND2, TIP120B, KIAA0667	Cullin-associated neddylation -dissociated 2	CAND2	23066	ENSG00000144712			Cand2 (MGI:1914338)
chr3	12897043	13283257	3p25.2	3p25.2-p25.1	610166	IQSEC1, KIAA0763, IDDSSBA	IQ motif- and Sec7 domain-containing protein 1	IQSEC1	9922	ENSG00000144711		Intellectual developmental disorder with short stature and behavioral abnormalities, 618687 (3), Autosomal recessive	Iqsec1 (MGI:1196356)
chr3	13200001	32000000	3p25.1-p23		613530	LGMD1H	Muscular dystrophy, limb-girdle, type 1H		100529230		between D3S1263 and D3S1277	Muscular dystrophy, limb-girdle, type 1H, 613530 (2), Autosomal dominant	
chr3	13316235	13420322	3p25.1	3p25.1	607703	NUP210, GP210, KIAA0906	Nucleoporin, 210kD	NUP210	23225	ENSG00000132182			Nup210 (MGI:1859555)
chr3	13480306	13506416	3p25.1	3p25.1	607226	HDAC11	Histone deacetylase 11	HDAC11	79885	ENSG00000163517			Hdac11 (MGI:2385252)
chr3	13549125	13638404	3p25-p24	3p25.1	135821	FBLN2	Fibulin-2	FBLN2	2199	ENSG00000163520			Fbln2 (MGI:95488)
chr3	13816258	13880071	3p25	3p25.1	601570	WNT7A, SANTOS	Wingless-type MMTV integration site family, member 7A	WNT7A	7476	ENSG00000154764	mutation identified in 1 SANTOS family	Fuhrmann syndrome, 228930 (3), Autosomal recessive; Ulna and fibula, absence of, with severe limb deficiency, 276820 (3), Autosomal recessive; ?Santos syndrome, 613005 (3), Autosomal recessive	Wnt7a (MGI:98961)
chr3	13937307	14065984	3p25.1	3p25.1	611167	TPRXL	Tetrapeptide repeat homeobox-like	TPRXL	348825	ENSG00000292995			
chr3	14112077	14124870	3p25.1	3p25.1	611077	CHDH4, MIA40	Coiled-coil-helix-coiled-coil-helix domain-containing protein 4	CHCHD4	131474	ENSG00000163528			Chchd4 (MGI:1919420)
chr3	14125052	14143680	3p25	3p25.1	612048	TMEM43, ARVD5, ARVC5, EDMD7, AUNA3	Transmembrane protein 43	TMEM43	79188	ENSG00000170876		Arrhythmogenic right ventricular dysplasia 5, 604400 (3), Autosomal dominant; Auditory neuropathy, autosomal dominant 3, 619832 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3), Autosomal dominant	Tmem43 (MGI:1921372)
chr3	14145147	14178601	3p25	3p25.1	613208	XPC, XPCC	XPC complex subunit, DNA damage recognition and repair factor	XPC	7508	ENSG00000154767		Xeroderma pigmentosum, group C, 278720 (3), Autosomal recessive	Xpc (MGI:103557)
chr3	14178817	14201122	3p25.1	3p25.1	607283	LSM3	LSM3 protein	LSM3	27258	ENSG00000170860			Lsm3 (MGI:1914928)
chr3	14402576	14489349	3p25-q24	3p25.1	186854	SLC6A6, TAUT, HTRDC	Solute carrier family 6 (neurotransmitter transporter, taurine), member 6	SLC6A6	6533	ENSG00000131389		Hypotaurinemic retinal degeneration and cardiomyopathy, 145350 (3), Autosomal recessive	Slc6a6 (MGI:98488)
chr3	14651762	14672655	3p25.1	3p25.1	616735	CCDC174, HSPC212, IHPM	Coiled-coil domain-containing protein 174	CCDC174	51244	ENSG00000154781		Hypotonia, infantile, with psychomotor retardation, 616816 (3), Autosomal recessive	Ccdc174 (MGI:2444652)
chr3	14675141	14773036	3p25.1	3p25.1	619992	C3orf20	Chromosome 3 open reading frame 20	C3orf20	84077	ENSG00000131379			4930590J08Rik (MGI:2685917)
chr3	14810688	14934571	3p25.1	3p25.1	614788	FGD5	FYVE, RhoGEF, and PH domain-containing protein 5	FGD5	152273	ENSG00000154783			Fgd5 (MGI:2443369)
chr3	14947583	15049273	3p25	3p25.1	601426	NR2C2, TR4, TAK1	Nuclear receptor subfamily 2, group C, member 2	NR2C2	7182	ENSG00000177463			Nr2c2 (MGI:1352466)
chr3	15042251	15065315	3p25	3p25.1	611987	MRPS25, COXPD50	Mitochondrial ribosomal protein S25	MRPS25	64432	ENSG00000131368	mutation identified in 1 COXPD50 patient	?Combined oxidative phosphorylation deficiency 50, 619025 (3), Autosomal recessive	Mrps25 (MGI:1928140)
chr3	15070073	15099148	3p25.1	3p25.1	609511	RBSN, ZFYVE20, KAREVS, MFANDO	Rabenosyn 5	RBSN	64145	ENSG00000131381		Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, 620939 (3), Autosomal recessive; Kariminejad neurodevelopmental syndrome, 620937 (3), Autosomal recessive	Rbsn (MGI:1925537)
chr3	15165362	15205959	3p24.3	3p25.1	612397	COL6A4P1, DVWA, DIVA, LOC344875	Collagen, type VI, alpha 4, pseudogene 1	COL6A4P1	344875	ENSG00000291281			
chr3	15206246	15252916	3p24	3p25.1	606400	CAPN7, PALBH	Calpain 7	CAPN7	23473	ENSG00000131375			Capn7 (MGI:1338030)
chr3	15254353	15341380	3p25.1	3p25.1	605612	SH3BP5, SAB	SH3 domain-binding protein 5	SH3BP5	9467	ENSG00000131370	previously mapped to 1q431		Sh3bp5 (MGI:1344391)
chr3	15381275	15427643	3p35.1	3p25.1	618903	METTL6	Methyltransferase 6, methylcytidine	METTL6	131965	ENSG00000206562			Mettl6 (MGI:1914261)
chr3	15427598	15442613	3p25.1	3p25.1	608315	EAF1	ELL-associated factor 1	EAF1	85403	ENSG00000144597			Eaf1 (MGI:1921677)
chr3	15450133	15521706	3p25	3p25.1	603033	COLQ, EAD, CMS5	Collagenic tail of endplate acetylcholinesterase	COLQ	8292	ENSG00000206561		Myasthenic syndrome, congenital, 5, 603034 (3), Autosomal recessive	Colq (MGI:1338761)
chr3	15560699	15601569	3p25.1	3p25.1	604300	HACL1, HPCL2	2-hydroxyacyl-CoA lyase 1	HACL1	26061	ENSG00000131373			Hacl1 (MGI:1929657)
chr3	15601361	15722516	3p25	3p25.1	609019	BTD	Biotinidase	BTD	686	ENSG00000169814		Biotinidase deficiency, 253260 (3), Autosomal recessive	Btd (MGI:1347001)
chr3	15667236	15859814	3p25.1	3p25.1	611122	ANKRD28, PITK, KIAA0379	Ankyrin repeat domain-containing protein 28	ANKRD28	23243	ENSG00000206560			Ankrd28 (MGI:2145661)
chr3	16174680	16248224	3p25.1	3p25.1	615131	GALNT15, GALNACT15	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15	GALNT15	117248	ENSG00000131386			Galnt15 (MGI:1926004)
chr3	16257061	16264943	3p24.3	3p25.1	608959	DPH3, KTI11, ZCSL2, DELGIP1	Diphthamide biosynthesis protein 3	DPH3	285381	ENSG00000154813			Dph3 (MGI:1922658)
chr3	16265212	16352095	3p25.1-p24.3	3p25.1-p24.3	620581	OXNAD1	Oxidoreductase NAD-binding domain-contining protein 1	OXNAD1	92106	ENSG00000154814			Oxnad1 (MGI:1916953)
chr3	16300001	54400000	3p24-p21		609954	ASPG4	Asperger syndrome, susceptibility to, 4		100188800		max lod at D3S2432	{Asperger syndrome susceptibility 4}, 609954 (2)	
chr3	16300001	30800000	3p24		613519	ATOD9	Dermatitis, atopic, 9		105463126		max lod at D3S1768	{Dermatitis, atopic, susceptibility to, 9}, 613519 (2)	
chr3	16300001	43600000	3p24-p22		608088	HSN1B	Hereditary sensory neuropathy, type IB		378888		max lod at D3S2338	Neuropathy, hereditary sensory, type IB, 608088 (2), Autosomal dominant	
chr3	16300001	23800000	3p24.3		612401	OS6	Osteoarthritis susceptibility 6		100286836		associated with rs11718863 and rs7639618	{Osteoarthritis susceptibility 6}, 612401 (2)	
chr3	16300001	52300000	3p24-p21.2		609649	TRICY1	Trichilemmal cyst 1		94014		max lod at D3S1277	Trichilemmal cyst 1, 609649 (2), Autosomal dominant	
chr3	16315845	16513699	3p24.3	3p24.3	618210	RFTN1, KIAA0084	Lipid raft linking protein 1	RFTN1	23180	ENSG00000131378			Rftn1 (MGI:1923688)
chr3	16586792	16605423	3p24	3p24.3	601486	DAZL, DAZH, SPGYLA	Deleted in azoospermia-like	DAZL	1618	ENSG00000092345	?founding member of DAZ gene family	{Spermatogenic failure, susceptibility to} (3)	Dazl (MGI:1342328)
chr3	16884955	17090606	3p25-p24	3p24.3	614276	PLCL2, KIAA1092	Phospholipase C-like 2	PLCL2	23228	ENSG00000154822			Plcl2 (MGI:1352756)
chr3	17157162	17742631	3p24.3	3p24.3	615740	TBC1D5, KIAA0210	TBC1 domain family, member 5	TBC1D5	9779	ENSG00000131374			Tbc1d5 (MGI:1919488)
chr3	18345377	18445592	3p23	3p24.3	602075	SATB1, DEFDA, DHDBV	Special AT-rich sequence binding protein-1	SATB1	6304	ENSG00000182568		den Hoed-de Boer-Voisin syndrome, 619229 (3), Autosomal dominant; Developmental delay with dysmorphic facies and dental anomalies, 619228 (3), Autosomal dominant	Satb1 (MGI:105084)
chr3	19148510	19535642	3p24.3	3p24.3	608260	KCNH8, ELK1	Potassium channel, voltage-gated, subfamily H, member 8	KCNH8	131096	ENSG00000183960			Kcnh8 (MGI:2445160)
chr3	19947097	19985175	3p24-p22	3p24.3	179512	RAB5A, RAB5	RAS-associated protein RAB5A	RAB5A	5868	ENSG00000144566			Rab5a (MGI:105926)
chr3	19979961	20012264	3p24.3	3p24.3	621037	PP2D1	Protein phosphatase 2C-like domain-containing protein 1	PP2D1	151649	ENSG00000183977			Pp2d1 (MGI:3612067)
chr3	20040446	20154404	3p24	3p24.3	602303	CAF	CREBBP-associated factor	KAT2B	8850	ENSG00000114166			Kat2b (MGI:1343094)
chr3	20160593	20186886	3p24.3	3p24.3	609168	SGOL1, SGO, SGO1, CAID	Shugoshin-like 1	SGO1	151648	ENSG00000129810		Chronic atrial and intestinal dysrhythmia, 616201 (3), Autosomal recessive	Sgo1 (MGI:1919665)
chr3	23203098	23591925	3p24.2	3p24.3	602163	UBE2E2	Ubiquitin-conjugating enzyme E2 E2	UBE2E2	7325	ENSG00000182247			Ube2e2 (MGI:2384997)
chr3	23800001	32000000	3p24.2-p23		611634	FEB9	Febrile seizures, familial, 9		100188849		between D3S3727 and D3S3567	Febrile seizures, familial, 9, 611634 (2), Autosomal dominant	
chr3	23805955	23891640	3p24.3-p24.2	3p24.2	602916	UBE2E1, UBCH6	Ubiquitin-conjugating enzyme E2 E1	UBE2E1	7324	ENSG00000170142			Ube2e1 (MGI:107411)
chr3	23889951	23946562	3p24.2	3p24.2	604496	NKIRAS1, KBRAS1	NFKB inhibitor-interacting Ras-like protein 1	NKIRAS1	28512	ENSG00000197885			Nkiras1 (MGI:1916971)
chr3	23916545	23924631	3p24.2	3p24.2	604174	RPL15, DBA12	Ribosomal protein L15	RPL15	6138	ENSG00000174748		Diamond-Blackfan anemia 12, 615550 (3), Autosomal dominant	Rpl15 (MGI:1913730)
chr3	23945286	23980617	3p24.3	3p24.2	602304	NR1D2, RVR, BD73	Nuclear receptor subfamily 1, group D, member 2	NR1D2	9975	ENSG00000174738			Nr1d2 (MGI:2449205)
chr3	24117153	24495708	3p24.3	3p24.2	190160	THRB, ERBA2, THR1, PRTH	Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog-2)	THRB	7068	ENSG00000151090		Thyroid hormone resistance, autosomal recessive, 274300 (3), Autosomal recessive; Thyroid hormone resistance, 188570 (3), Autosomal dominant; Thyroid hormone resistance, selective pituitary, 145650 (3), Autosomal dominant	Thrb (MGI:98743)
chr3	24829321	25597932	3p24	3p24.2	180220	RARB, HAP, MCOPS12	Retinoic acid receptor, beta polypeptide	RARB	5915	ENSG00000077092	= HAP = HBV-activated protein	Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive, Autosomal dominant	Rarb (MGI:97857)
chr3	25597905	25664907	3p24	3p24.2	126431	TOP2B, BILU	Topoisomerase (DNA) II, beta, 180kD	TOP2B	7155	ENSG00000077097		B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, 609296 (3), Autosomal dominant	Top2b (MGI:98791)
chr3	25718944	25790039	3p24	3p24.2	610661	NGLY1, PNG1, CDDG, CDG1V	N-glycanase 1	NGLY1	55768	ENSG00000151092		Congenital disorder of deglycosylation 1, 615273 (3), Autosomal recessive	Ngly1 (MGI:1913276)
chr3	25790090	25794531	3p24.2	3p24.2	610324	OXSM, KS	3-oxoacyl-ACP synthase, mitochondrial	OXSM	54995	ENSG00000151093			Oxsm (MGI:1918397)
chr3	26622772	26710776	3p24	3p24.1	618996	LRRC3B, LRP15	Leucine-rich repeat-containing protein 3B	LRRC3B	116135	ENSG00000179796			Lrrc3b (MGI:2384996)
chr3	27106484	27369383	3p24	3p24.1	618726	NEK10, CILD44	NIMA-related kinase 10	NEK10	152110	ENSG00000163491		Ciliary dyskinesia, primary, 44, 618781 (3), Autosomal recessive	Nek10 (MGI:2685128)
chr3	27372723	27484384	3p22	3p24.1	603353	SLC4A7, NBC2, NBC3	Solute carrier family 4, sodium bicarbonate cotransporter, member 7	SLC4A7	9497	ENSG00000033867			Slc4a7 (MGI:2443878)
chr3	27715953	27722713	3p21.3-p21.2	3p24.1	604615	EOMES, TBR2	Eomesodermin	EOMES	8320	ENSG00000163508	?translocation separating regulatory element from promoter		Eomes (MGI:1201683)
chr3	28241619	28325142	3p24	3p24.1	615166	CMC1, C3orf68	C-X9-C motif-containing 1	CMC1	152100	ENSG00000187118			Cmc1 (MGI:1915149)
chr3	28321047	28348824	3p24.1	3p24.1	609916	AZI2, AZ2, NAP1, TILP	5-azacytidine-induced protein 2	AZI2	64343	ENSG00000163512			Azi2 (MGI:1351332)
chr3	29281071	30010395	3p24-p23	3p24.1	605786	RBMS3	RNA-binding motif protein, single strand-interacting, 3	RBMS3	27303	ENSG00000144642			Rbms3 (MGI:2444477)
chr3	30606356	30694142	3p24.1	3p24.1	190182	TGFBR2, HNPCC6, AAT3, MFS2, LDS2	Transforming growth factor, beta receptor II, 70-80kD	TGFBR2	7048	ENSG00000163513		Loeys-Dietz syndrome 2, 610168 (3), Autosomal dominant; Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3); Esophageal cancer, somatic, 133239 (3)	Tgfbr2 (MGI:98729)
chr3	30726197	30894661	3p24.1	3p24.1-p23	615601	GADL1	Glutamate decarboxylase-like 1	GADL1	339896	ENSG00000144644			Gadl1 (MGI:1920998)
chr3	30800001	54400000	3p23-p21		182280	SCLC1	Small-cell cancer of lung		7864		centromeric to ERBA2	Small-cell cancer of lung, 182280 (2), Autosomal dominant	
chr3	31532925	31637616	3p23	3p23	608605	STT3B, SIMP, CDG1X	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	STT3B	201595	ENSG00000163527		Congenital disorder of glycosylation, type Ix, 615597 (3), Autosomal recessive	Stt3b (MGI:1915542)
chr3	31660825	32077692	3p25.3-p22	3p23-p22.3	606738	OSBPL10, ORP10	Oxysterol-binding protein-like protein 10	OSBPL10	114884	ENSG00000144645			Osbpl10 (MGI:1921736)
chr3	32000001	43600000	3p22		614836	HHV8S	Human herpesvirus 8, susceptibility to		101056702			{Human herpesvirus 8, susceptibility to}, 614836 (2)	
chr3	32106620	32168709	3p22.3	3p22.3	611778	GPD1L, KIAA0089	Glycerol-3-phosphate dehydrogenase 1-like	GPD1L	23171	ENSG00000152642		Brugada syndrome 2, 611777 (3), Autosomal dominant	Gpd1l (MGI:1289257)
chr3	32238192	32370321	3p22.3	3p22.3	607891	CMTM8, CKLFSF8	CKLF-like marvel transmembrane domain-containing 8	CMTM8	152189	ENSG00000170293			Cmtm8 (MGI:2447167)
chr3	32391853	32455528	3p22.3	3p22.3	607890	CMTM7, CKLFSF7	CKLF-like marvel transmembrane domain-containing 7	CMTM7	112616	ENSG00000153551			Cmtm7 (MGI:2447166)
chr3	32481312	32502852	3p22.3	3p22.3	607889	CMTM6, CKLFSF6	CKLF-like marvel transmembrane domain-containing 6	CMTM6	54918	ENSG00000091317			Cmtm6 (MGI:2447165)
chr3	32525974	32570858	3p22.3	3p22.3	615890	DYNC1LI1, LIC1	Dynein, cytoplasmic 1, light intermediate chain 1	DYNC1LI1	51143	ENSG00000144635			Dync1li1 (MGI:2135610)
chr3	32685188	32773875	3p22.3	3p22.3	620508	CNOT10	CCR4-NOT transcription complex, subunit 10	CNOT10	25904	ENSG00000182973			Cnot10 (MGI:1926143)
chr3	32817997	32897824	3p22.3	3p22.3	618570	TRIM71, LIN41, HYC4	Tripartite motif-containing protein 71	TRIM71	131405	ENSG00000206557		Hydrocephalus, congenital, 4, 618667 (3), Autosomal dominant	Trim71 (MGI:2685973)
chr3	32951644	32956349	3p24	3p22.3	604836	CCR4, CKR4, CMKBR4	Chemokine (C-C) receptor-4	CCR4	1233	ENSG00000183813			Ccr4 (MGI:107824)
chr3	32961108	33097146	3p21.33	3p22.3	611458	GLB1, MPS4B	Galactosidase, beta-1	GLB1	2720	ENSG00000170266	3p14.2-p11 excluded	GM1-gangliosidosis, type I, 230500 (3), Autosomal recessive; GM1-gangliosidosis, type III, 230650 (3), Autosomal recessive; Mucopolysaccharidosis type IVB (Morquio), 253010 (3), Autosomal recessive; GM1-gangliosidosis, type II, 230600 (3), Autosomal recessive	Glb1 (MGI:88151)
chr3	33114014	33147773	3p22	3p22.3	605497	CRTAP, CASP, OI7	Cartilage-associated protein	CRTAP	10491	ENSG00000170275		Osteogenesis imperfecta, type VII, 610682 (3), Autosomal recessive	Crtap (MGI:1891221)
chr3	33150043	33218810	3p22.3	3p22.3	619917	SUSD5, KIAA0527	Sushi domain-containing protein 5	SUSD5	26032	ENSG00000173705			Susd5 (MGI:2685972)
chr3	33277025	33422698	3p22.3	3p22.3	605652	FBXL2, FBL2	F-box and leucine-rich repeat protein 2	FBXL2	25827	ENSG00000153558			Fbxl2 (MGI:1919429)
chr3	33388336	33441399	3p23	3p22.3	609784	UBP1, LBP1A, LBP1B	Upstream binding protein 1	UBP1	7342	ENSG00000153560			Ubp1 (MGI:104889)
chr3	33496245	33718254	3p22.3	3p22.3	605853	CLASP2	CLIP-associated protein 2	CLASP2	23122	ENSG00000163539			Clasp2 (MGI:1923749)
chr3	33798630	33869703	3p22.3	3p22.3	608074	PDCD6IP, AIP1, ALIX, KIAA1375, MCPH29	Programmed cell death 6-interacting protein	PDCD6IP	10015	ENSG00000170248	mutation identified in 1 MCPH29 family	?Microcephaly 29, primary, autosomal recessive, 620047 (3), Autosomal recessive	Pdcd6ip (MGI:1333753)
chr3	35638853	35794486	3p22.3	3p22.3	605488	ARPP21, RCS	cAMP-regulated phosphoprotein 21	ARPP21	10777	ENSG00000172995			Arpp21 (MGI:107562)
chr3	35744476	35744559	3p22	3p22.3	611769	MIR128-2, MIR128B, MIRN128-2	Micro RNA 128-2	MIR128-2	406916	ENSG00000207625			Mir128-2 (MGI:3618709)
chr3	36380504	36548007	3p24-p22	3p22.3-p22.2	602317	STAC	SRC homology three (SH3) and cysteine-rich domain	STAC	6769	ENSG00000144681			Stac (MGI:1201400)
chr3	36400001	39300000	3p22.2		615612	DDH2	Developmental dysplasia of the hip 2		102775567		between rs4481097 and rs4626072	Developmental dysplasia of the hip 2, 615612 (2), Autosomal dominant	
chr3	36712421	36764553	3p22.3	3p22.2	613167	DCLK3, DCK3, CLR	Doublecortin-like kinase 3	DCLK3	85443	ENSG00000163673			Dclk3 (MGI:3039580)
chr3	36826819	36945744	3p22.2	3p22.2	619316	TRANK1, KIAA0342	Tetratricopeptide repeat- and ankyrin repeat-containing protein 1	TRANK1	9881	ENSG00000168016			Trank1 (MGI:1341834)
chr3	36985043	36993131	3p22.1	3p22.2	607911	EPM2AIP1, KIAA0766	EPM2A-interacting protein 1	EPM2AIP1	9852	ENSG00000178567			Epm2aip1 (MGI:1925031)
chr3	36993466	37050846	3p21.3	3p22.2	120436	MLH1, COCA2, LYNCH2, MMRCS1	DNA mismatch repair protein MLH1	MLH1	4292	ENSG00000076242		Lynch syndrome 2, 609310 (3); Muir-Torre syndrome, 158320 (3), Autosomal dominant; Mismatch repair cancer syndrome 1, 276300 (3), Autosomal recessive	Mlh1 (MGI:101938)
chr3	37052626	37176360	3p22.2	3p22.2	614043	LRRFIP2	Leucine-rich repeat in FLII-interacting protein 2	LRRFIP2	9209	ENSG00000093167			Lrrfip2 (MGI:1918518)
chr3	37243271	37366879	3p22-p21.3	3p22.2	602509	GOLGA4	Golgin A4	GOLGA4	2803	ENSG00000144674			Golga4 (MGI:1859646)
chr3	37381077	37435497	3p22.2	3p22.2	611429	APRG1, C3orf35	APRG1 tumor suppressor candidate	APRG1	339883	ENSG00000198590			
chr3	37452141	37823507	3p21.3	3p22.2	603963	ITGA9	Integrin, alpha-9	ITGA9	3680	ENSG00000144668			Itga9 (MGI:104756)
chr3	37861880	37984469	3p22.2	3p22.2	608592	CTDSPL, SCP3, HYA22	CTD small phosphatase-like	CTDSPL	10217	ENSG00000144677			Ctdspl (MGI:1916524)
chr3	37969404	37969480	3p22.2	3p22.2	612151	MIR26A, MIRN26A1	Micro RNA 26A1	MIR26A1	407015	ENSG00000199075			Mir26a-1 (MGI:2676900)
chr3	37987978	38007185	3p22.2	3p22.2	619666	VILL	Villin-like protein	VILL	50853	ENSG00000136059			Vill (MGI:1201781)
chr3	38007496	38029642	3p22-p21.3	3p22.2	602142	PLCD1, NDNC3	Phospholipase C, delta-1	PLCD1	5333	ENSG00000187091		Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3), Autosomal recessive, Autosomal dominant	Plcd1 (MGI:97614)
chr3	38039208	38124025	3p22-p21.3	3p22.2	604050	DLEC1, DLC1	Deleted in lung and esophageal cancer 1	DLEC1	9940	ENSG00000008226			Dlec1 (MGI:2443671)
chr3	38122715	38137127	3p23-p22	3p22.2	604054	ACAA1	Acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase)	ACAA1	30	ENSG00000060971			Acaa1a,Acaa1b (MGI:2148491,MGI:3605455)
chr3	38138661	38143022	3p22-p21.3	3p22.2	602170	MYD88, MYD88D, IMD68	MYD88 innate immune signal transduction adaptor	MYD88	4615	ENSG00000172936		Macroglobulinemia, Waldenstrom, somatic, 153600 (3); Immunodeficiency 68, 612260 (3), Autosomal recessive	Myd88 (MGI:108005)
chr3	38164063	38255484	3p22-p21.3	3p22.2	604046	OSR1	Oxidative stress-responsive 1	OXSR1	9943	ENSG00000172939			Oxsr1 (MGI:1917378)
chr3	38265812	38278757	3p22.2	3p22.2	604047	SLC22A13, ORCTL3, OCTL1	Solute carrier family 22 (organic anion/urate transporter), member 13	SLC22A13	9390	ENSG00000172940			Slc22a13 (MGI:2143107)
chr3	38278832	38318575	3p22.2	3p22.2	604048	SLC22A14, ORCTL4, OCTL2	Solute carrier family 22, member 14	SLC22A14	9389	ENSG00000144671			Slc22a14 (MGI:2685974)
chr3	38346785	38453041	3p22-p21.3	3p22.2	604049	XYLB	Xylulokinase	XYLB	9942	ENSG00000093217			Xylb (MGI:2142985)
chr3	38453890	38493142	3p22-p21.3	3p22.2	602730	ACVR2B, ACTRIIB, HTX4	Activin A receptor, type IIB	ACVR2B	93	ENSG00000114739		Heterotaxy, visceral, 4, autosomal, 613751 (3)	Acvr2b (MGI:87912)
chr3	38496340	38526303	3p22-p21.3	3p22.2	604051	EXOG, ENDOGL1, ENGL	Endo/exonuclease, ENDOG-like	EXOG	9941	ENSG00000157036			Exog (MGI:2143333)
chr3	38548062	38649687	3p22.2	3p22.2	600163	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	Sodium channel, voltage-gated, type V, alpha polypeptide	SCN5A	6331	ENSG00000183873		Ventricular fibrillation, familial, 1, 603829 (3); Heart block, progressive, type IA, 113900 (3), Autosomal dominant; Cardiomyopathy, dilated, 1E, 601154 (3), Autosomal dominant; Heart block, nonprogressive, 113900 (3), Autosomal dominant; Long QT syndrome 3, 603830 (3), Autosomal dominant; Sick sinus syndrome 1, 608567 (3), Autosomal recessive; Brugada syndrome 1, 601144 (3), Autosomal dominant; Atrial fibrillation, familial, 10, 614022 (3), Autosomal dominant; {Sudden infant death syndrome, susceptibility to}, 272120 (3), Autosomal recessive	Scn5a (MGI:98251)
chr3	38696807	38816217	3p22.2	3p22.2	604427	SCN10A, FEPS2	Sodium voltage-gated channel, alpha subunit 10	SCN10A	6336	ENSG00000185313		Episodic pain syndrome, familial, 2, 615551 (3), Autosomal dominant	Scn10a (MGI:108029)
chr3	38845764	39051944	3p22.2	3p22.2	604385	SCN11A, HSAN7, FEPS3	Sodium voltage-gated channel, alpha subunit 11	SCN11A	11280	ENSG00000168356		Episodic pain syndrome, familial, 3, 615552 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3), Autosomal dominant	Scn11a (MGI:1345149)
chr3	39052016	39096664	3p21.33	3p22.2	612167	WDR48, KIAA1449	WD repeat-containing protein 48	WDR48	57599	ENSG00000114742			Wdr48 (MGI:1914811)
chr3	39096599	39107627	3p21.3	3p22.2	606867	GORASP1, GOLPH5, GRASP65, P65	Golgi reassembly stacking protein 1, 65kD	GORASP1	64689	ENSG00000114745			Gorasp1 (MGI:1921748)
chr3	39107680	39138900	3p21.3	3p22.2	611430	TTC21A, STI2, SPGF37	Tetratricopeptide repeat domain-containing protein 21A	TTC21A	199223	ENSG00000168026		Spermatogenic failure 37, 618429 (3), Autosomal recessive	Ttc21a (MGI:1921302)
chr3	39141855	39154641	3p22	3p22.2	606458	CSRNP1, AXUD1	Cysteine- and serine-rich nuclear protein 1	CSRNP1	64651	ENSG00000144655			Csrnp1 (MGI:2387989)
chr3	39183215	39192595	3p22.2	3p22.2	609777	XIRP1, CMYA1, XIN	xin actin-binding repeat containing 1	XIRP1	165904	ENSG00000168334			Xirp1 (MGI:1333878)
chr3	39263494	39292966	3pter-p21	3p22.2	601470	CX3CR1, GPR13, V28	Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13)	CX3CR1	1524	ENSG00000168329		{Rapid progression to AIDS from HIV1 infection}, 609423 (3); {Macular degeneration, age-related, 12}, 613784 (3); {Coronary artery disease, resistance to}, 607339 (3)	Cx3cr1 (MGI:1333815)
chr3	39329709	39333680	3p22	3p22.1	601834	CCR8, CMKBR8, CMKBRL2, CKRL1	Chemokine (C-C) receptor 8	CCR8	1237	ENSG00000179934			Ccr8 (MGI:1201402)
chr3	39383370	39397351	3p22.1	3p22.1	610819	SLC25A38, SIDBA2	Solute carrier family 25, member 38	SLC25A38	54977	ENSG00000144659		Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive	Slc25a38 (MGI:2384782)
chr3	39406720	39412542	3p21.3	3p22.1	150370	RPSA, LAMR1, LAMBR, ICAS	Ribosomal protein SA	RPSA	3921	ENSG00000168028		Asplenia, isolated congenital, 271400 (3), Autosomal dominant	Rpsa (MGI:105381)
chr3	39411054	39411207	3p22.1	3p22.1	180646	SNORA62, RNU108, RNE2	Small nucleolar RNA, H/ACA box, 62	SNORA62	6044	ENSG00000202363			Snora62 (MGI:2148179)
chr3	39467680	39529497	3p22-p21	3p22.1	600948	MOBP	Myelin-associated oligodendrocyte basic protein	MOBP	4336	ENSG00000168314			Mobp (MGI:108511)
chr3	39808914	40260321	3p21.33-p21.32	3p22.1	611790	MYRIP, SLAC2C	Myosin VIIA- and RAB-interacting protein	MYRIP	25924	ENSG00000170011			Myrip (MGI:2384407)
chr3	40387184	40428744	3p21.3	3p22.1	603161	ENTPD3, CD39L3	Ectonucleoside triphosphate diphosphohydrolase 3	ENTPD3	956	ENSG00000168032			Entpd3 (MGI:1321386)
chr3	40457339	40468587	3p22.1	3p22.1	617414	RPL14	Ribosomal protein L14	RPL14	9045	ENSG00000188846			Rpl14 (MGI:1914365)
chr3	41199505	41240443	3p22.1	3p22.1	116806	CTNNB1, NEDSDV, EVR7	Catenin (cadherin-associated protein), beta 1, 88kD	CTNNB1	1499	ENSG00000168036		Exudative vitreoretinopathy 7, 617572 (3), Autosomal dominant; Pilomatricoma, somatic, 132600 (3); Colorectal cancer, somatic, 114500 (3); Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 (3), Autosomal dominant; Medulloblastoma, somatic, 155255 (3); Ovarian cancer, somatic, 167000 (3); Hepatocellular carcinoma, somatic, 114550 (3)	Ctnnb1 (MGI:88276)
chr3	41246599	41962103	3p22.1	3p22.1	617010	ULK4, FAM7C1	Unc51-like kinase 4	ULK4	54986	ENSG00000168038			Ulk4 (MGI:1921622)
chr3	42013093	42225890	3p25.3-p24.1	3p22.1	608112	TRAK1, OIP106, KIAA1042, DEE68	Trafficking protein, kinesin-binding 1	TRAK1	22906	ENSG00000182606		Developmental and epileptic encephalopathy 68, 618201 (3), Autosomal recessive	Trak1 (MGI:1914345)
chr3	42257826	42266185	3pter-p21	3p22.1	118440	CCK	Cholecystokinin	CCK	885	ENSG00000187094			Cck (MGI:88297)
chr3	42360764	42410610	3p21.33	3p22.1	612750	LYZL4	Lysozyme-like 4	LYZL4	131375	ENSG00000157093			Lyzl4 (MGI:1916282)
chr3	42489299	42537568	3p22	3p22.1	192321	VIPR1	Vasoactive intestinal peptide receptor 1	VIPR1	7433	ENSG00000114812	incorrectly assigned to 2q37		Vipr1 (MGI:109272)
chr3	42547969	42601078	3p22.1	3p22.1	604028	SEC22C	SEC22 homolog C, vesicle trafficking protein	SEC22C	9117	ENSG00000093183			Sec22c (MGI:2447871)
chr3	42581840	42596934	3p21	3p22.1	606473	SS18L2	SS18-like gene 2	SS18L2	51188	ENSG00000008324			Ss18l2 (MGI:1349474)
chr3	42600612	42648735	3p22.1	3p22.1	161565	NKTR	Natural tumor-killer recognition sequence	NKTR	4820	ENSG00000114857	mouse gene close to Cck		Nktr (MGI:97346)
chr3	42652931	42667580	3p22.1	3p22.1	619969	ZBTB47, ZNF651, KIAA1190	Zinc finger- and BTB domain-containing protein 47	ZBTB47	92999	ENSG00000114853			Zbtb47 (MGI:2670992)
chr3	42685537	42692544	3p22.1	3p22.1	615340	KLHL40, SYRP, KBTBD5, NEM8	Kelch-like 40	KLHL40	131377	ENSG00000157119		Nemaline myopathy 8, autosomal recessive, 615348 (3), Autosomal recessive	Klhl40 (MGI:1919580)
chr3	42692663	42702798	3p22.1	3p22.1	608116	HHATL, MBOAT3, C3orf3, KIAA1173	Hedgehog acyltransferase-like protein	HHATL	57467	ENSG00000010282			Hhatl (MGI:1922020)
chr3	42782908	42804490	3p22.1	3p22.1	618623	HIGD1A, HIG1, RCF1A	HIG1 hypoxia-inducivle domain family, member 1A	HIGD1A	25994	ENSG00000181061			Higd1a (MGI:1930666)
chr3	42809445	42867286	3p21.3	3p22.1	602648	ACKR2, CCBP2, CMKBR9, D6, CCR9, CCR10	Atypical chemokine receptor 2	ACKR2	1238	ENSG00000144648			Ackr2 (MGI:1891697)
chr3	42872192	42875879	3p22-p21.3	3p22.1	602172	CYP8B1, CYP12	Cytochrome P450, subfamily VIIIB, polypeptide 1	CYP8B1	1582	ENSG00000180432			Cyp8b1 (MGI:1338044)
chr3	42979311	43057715	3p22.1	3p22.1	620413	GSK1A, FAM198A	Golgi-associated kinase 1A	GASK1A	729085	ENSG00000144649			Gask1a (MGI:3041196)
chr3	43079234	43106079	3p22.1	3p22.1	614828	POMGNT2, GTDC2, C3orf39, AGO61, MDDGA8, MDDGC8	Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 2	POMGNT2	84892	ENSG00000144647		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 614830 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3), Autosomal recessive	Pomgnt2 (MGI:2143424)
chr3	43286540	43351143	3p21	3p22.1	612760	SNRK, KIAA0096	SNF-related kinase	SNRK	54861	ENSG00000163788			Snrk (MGI:108104)
chr3	43365848	43691594	3p22.1	3p22.1-p21.33	613726	ANO10, TMEM16K, SCAR10	Anoctamin 10	ANO10	55129	ENSG00000160746		Spinocerebellar ataxia, autosomal recessive 10, 613728 (3), Autosomal recessive	Ano10 (MGI:2143103)
chr3	43600001	54400000	3p21		612007	CELIAC9	Celiac disease, susceptibility to, 9		100188871		associated with rs6441961	{Celiac disease, susceptibility to, 9}, 612007 (2)	
chr3	43600001	54400000	3p21		606874	HSCR6	Hirschsprung disease, susceptibility to, 6		246321			{Hirschsprung disease, susceptibility to, 6}, 606874 (2)	
chr3	43600001	50600000	3p21.3		612241	IBD12	Inflammatory bowel disease 12		100188952			{Inflammatory bowel disease 12}, 612241 (2)	
chr3	43600001	74100000	3p21-p13		612574	MPVQTL2	Mean platelet volume quantitative trait locus 2		100271868		associated with rs12485738	[Mean platelet volume QTL2], 612574 (2)	
chr3	43600001	54400000	3p21		613806	PSC	Cholangitis, primary sclerosing		100653366			Cholangitis, primary sclerosing, 613806 (2)	
chr3	43600001	50600000	3p21.3		601994	TRR	Transfer RNA arginine						
chr3	43690870	43734371	3p21	3p21.33	604780	ABHD5, CGI58, IECN2, NCIE2	Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	ABHD5	51099	ENSG00000011198		Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive	Abhd5 (MGI:1914719)
chr3	44114212	44114310	3p21.32	3p21.32	613394	MIR138-1, MIRN138-1	Micro RNA 138-1	MIR138-1	406929	ENSG00000207954			Mir138-1 (MGI:2676823)
chr3	44200001	50600000	3p21.31		609815	ZD1	Zygodactyly 1		780914		max lod at D3S2409	Zygodactyly 1, 609815 (2)	
chr3	44241886	44336689	3p21.33	3p21.31	614412	TOPAZ1, C3orf77	Testis- and ovary-specific PAZ domain protein 1	TOPAZ1	375337	ENSG00000173769			Topaz1 (MGI:3779933)
chr3	44338129	44409448	3p21.31	3p21.31	620787	TCAIM, TOAG1	T-cell activation inhibitor, mitochondrial	TCAIM	285343	ENSG00000179152			Tcaim (MGI:1196217)
chr3	44431705	44477670	3p21.32	3p21.31	619508	ZNF445, ZFP445	Zinc finger protein 445	ZNF445	353274	ENSG00000185219			Zfp445 (MGI:2143340)
chr3	44625036	44648471	3p21	3p21.31	618359	ZNF197, ZNF20, VHLAK	Zinc finger protein 197	ZNF197	10168	ENSG00000186448			
chr3	44646506	44660791	3p22-p21	3p21.31	194533	ZNF35, HF10	Zinc finger protein-35 (HF.10)	ZNF35	7584	ENSG00000169981			Zfp105 (MGI:1277119)
chr3	44761794	44868687	3p21.31	3p21.31	617569	KIF15, KLP2, KNSL7, BRDCS2	Kinesin family, member 15	KIF15	56992	ENSG00000163808	mutation identified in 1 BRDCS2 patient	?Braddock-Carey syndrome 2, 619981 (3), Autosomal recessive	Kif15 (MGI:1098258)
chr3	44874608	44914990	3p22-p21.33	3p21.31	600585	TGM4	Transglutaminase-4, prostate	TGM4	7047	ENSG00000163810			Tgm4 (MGI:3027002)
chr3	44915261	44976174	3p21.31	3p21.31	617150	ZDHHC3, DHHC3, GODZ	Zinc finger DHHC domain-containing protein 3	ZDHHC3	51304	ENSG00000163812			Zdhhc3 (MGI:1926134)
chr3	44976244	45012668	3p21.31	3p21.31	606488	EXOSC7, RRP42	Exosome component 7	EXOSC7	23016	ENSG00000075914			Exosc7 (MGI:1913696)
chr3	45026303	45036071	3p21.31	3p21.31	187520	CLEC3B, TNA, MCDR4	C-type lectin domain family 3, member B	CLEC3B	7123	ENSG00000163815		Macular dystrophy, retinal, 4, 619977 (3), Autosomal dominant	Clec3b (MGI:104540)
chr3	45082277	45146482	3p23-p21	3p21.31	611735	CDCP1, SIMA135	CUB domain-containing protein 1	CDCP1	64866	ENSG00000163814			Cdcp1 (MGI:2442010)
chr3	45224466	45226287	3p21.3	3p21.31	620257	TMEM158, RIS1	Transmembrane protein 158	TMEM158	25907	ENSG00000249992			Tmem158 (MGI:1919559)
chr3	45388576	45549407	3p21.3	3p21.31	604544	LARS2, PRLTS4, HLASA	Leucyl-tRNA synthetase, mitochondrial	LARS2	23395	ENSG00000011376		Perrault syndrome 4, 615300 (3), Autosomal recessive; Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3), Autosomal recessive	Lars2 (MGI:2142973)
chr3	45594751	45686341	3p21.3	3p21.31	604543	LIMD1	LIM domain-containing protein 1	LIMD1	8994	ENSG00000144791			Limd1 (MGI:1352502)
chr3	45689396	45745409	3p21.3	3p21.31	606569	SACM1L, SAC1, KIAA0851	SAC1 suppressor of actin mutations 1-like	SACM1L	22908	ENSG00000211456			Sacm1l (MGI:1933169)
chr3	45755449	45796536	3p21.3	3p21.31	605616	SLC6A20, XT3	X transporter protein 3	SLC6A20	54716	ENSG00000163817			Slc6a20a,Slc6a20b (MGI:1336891,MGI:2143217)
chr3	45823316	45915724	3p21.3	3p21.31	606568	LZTFL1, BBS17	Leucine zipper transcription factor-like 1	LZTFL1	54585	ENSG00000163818		Bardet-Biedl syndrome 17, 615994 (3), Autosomal recessive	Lztfl1 (MGI:1934860)
chr3	45886064	45903174	3p21.3	3p21.31	604738	CCR9	Chemokine, CC motif, receptor 9	CCR9	10803	ENSG00000173585			Ccr9 (MGI:1341902)
chr3	45917903	45995824	3p21.3	3p21.31	607182	FYCO1, CATC2, CTRCT18	FYVE and coiled-coil domain containing 1	FYCO1	79443	ENSG00000163820		Cataract 18, autosomal recessive, 610019 (3), Autosomal recessive	Fyco1 (MGI:107277)
chr3	45940915	45948351	3p21	3p21.31	605163	CXCR6, STRL33, BONZO	Chemokine, CXC motif, receptor 6	CXCR6	10663	ENSG00000172215			Cxcr6 (MGI:1934582)
chr3	46017007	46085844	3p21.3-p21.1	3p21.31	600552	XCR1, CCXCR1, GPR5	Chemokine, C motif, receptor 1 (G protein-coupled receptor-5)	XCR1	2829	ENSG00000173578			Xcr1 (MGI:1346338)
chr3	46201711	46208313	3p21	3p21.31	601159	CCR1, CMKBR1, CKR1, HM145	Chemokine (C-C) receptor 1	CCR1	1230	ENSG00000163823			Ccr1,Ccr1l1 (MGI:104617,MGI:104618)
chr3	46210696	46266706	3p21.3	3p21.31	601268	CCR3, CKR3, CMKBR3	Chemokine (C-C) receptor 3	CCR3	1232	ENSG00000183625			Ccr3 (MGI:104616)
chr3	46354111	46360940	3p21	3p21.31	601267	CCR2, CMKBR2, PCLUD	Chemokine (C-C) receptor 2	CCR2	729230	ENSG00000121807		{HIV infection, susceptibility/resistance to}, 609423 (3); Polycystic lung disease, 219600 (3), Autosomal recessive	Ccr2 (MGI:106185)
chr3	46370142	46376206	3p21	3p21.31	601373	CCR5, CMKBR5, CCCKR5, IDDM22	Chemokine (C-C) receptor 5	CCR5	1234	ENSG00000160791		{HIV infection, susceptibility/resistance to}, 609423 (3); {Diabetes mellitus, insulin-dependent, 22}, 612522 (3); {Hepatitis C virus, resistance to}, 609532 (3); {West nile virus, susceptibility to}, 610379 (3)	Ccr5 (MGI:107182)
chr3	46407259	46409523	3p21	3p21.31	608379	CCRL2	Chemokine, CC motif, receptor-like protein 2	CCRL2	9034	ENSG00000121797			Ccrl2 (MGI:1920904)
chr3	46435645	46485234	3p21.31	3p21.31	150210	LTF	Lactotransferrin	LTF	4057	ENSG00000012223			Ltf (MGI:96837)
chr3	46497976	46500950	3p21.3	3p21.31	607181	RTP3, TMEM7	Receptor-transporting protein 3	RTP3	83597	ENSG00000163825			Rtp3 (MGI:2446841)
chr3	46515385	46566302	3p21.3	3p21.31	607180	LRRC2	Leucine-rich repeat-containing 2	LRRC2	79442	ENSG00000163827			Lrrc2 (MGI:1921499)
chr3	46574535	46582457	3p21.31	3p21.31	187395	CRIPTO, TDGF1, CRGF	CRIPTO, EGF-CFC family member	CRIPTO	6997	ENSG00000241186			Cripto (MGI:98658)
chr3	46668995	46693679	3p21.31	3p21.31	612402	ALS2CL	ALS2 C-terminal-like protein	ALS2CL	259173	ENSG00000178038			Als2cl (MGI:2447532)
chr3	46693778	46710886	3p21	3p21.31	607237	TMIE, DFNB6	Transmembrane inner ear-expressed gene	TMIE	259236	ENSG00000181585		Deafness, autosomal recessive 6, 600971 (3), Autosomal recessive	Tmie (MGI:2159400)
chr3	46712117	46717869	3p21.31	3p21.31	607950	PRSS50	Protease, serine, 50	PRSS50	29122	ENSG00000283706			Prss50 (MGI:2447303)
chr3	46857872	46882182	3p	3p21.31	160790	MYL3, CMH8	Myosin, light polypeptide-3, alkali; ventricular, skeletal, slow	MYL3	4634	ENSG00000160808		Cardiomyopathy, hypertrophic, 8, 608751 (3), Autosomal recessive, Autosomal dominant	Myl3 (MGI:97268)
chr3	46877721	46903799	3p22-p21.1	3p21.31	168468	PTH1R, PTHR1, PTHR, PFE, EKNS	Parathyroid hormone 1 receptor	PTH1R	5745	ENSG00000160801		Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3), Autosomal dominant; Eiken syndrome, 600002 (3), Autosomal recessive; Failure of tooth eruption, primary, 125350 (3), Autosomal dominant; Chondrodysplasia, Blomstrand type, 215045 (3), Autosomal recessive	Pth1r (MGI:97801)
chr3	46979666	47009701	3p22.1-p21.1	3p21.31	614169	NBEAL2, KIAA0540, GPS, BDPLT4	Neurobeachin-like 2	NBEAL2	23218	ENSG00000160796		Gray platelet syndrome, 139090 (3), Autosomal recessive	Nbeal2 (MGI:2448554)
chr3	47016436	47164840	3p21.3-p21.2	3p21.31	612778	SETD2, SET2, HYPB, HBP231, KIAA1732, LLS, RAPAS, MRD70	SET domain-containing protein 2	SETD2	29072	ENSG00000181555		Luscan-Lumish syndrome, 616831 (3), Autosomal dominant; Intellectual developmental disorder, autosomal dominant 70, 620157 (3), Autosomal dominant; Rabin-Pappas syndrome, 620155 (3), Autosomal dominant	Setd2 (MGI:1918177)
chr3	47227998	47282799	3p21.31	3p21.31	607910	KIF9	Kinesin family member 9	KIF9	64147	ENSG00000088727			Kif9 (MGI:1098237)
chr3	47282944	47346816	3p21.31	3p21.31	619926	KLHL18, KIAA0795	Kelch-like family, member 18	KLHL18	23276	ENSG00000114648			Klhl18 (MGI:2143315)
chr3	47381021	47413435	3p21.3	3p21.31	606584	PTPN23, KIAA1471, HDPTP, NEDBASS	Protein-tyrosine phosphatase, nonreceptor-type, 23	PTPN23	25930	ENSG00000076201		Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, 618890 (3), Autosomal recessive	Ptpn23 (MGI:2144837)
chr3	47413681	47477127	3p21.31	3p21.31	601510	SCAP	SREBP cleavage-activating protein	SCAP	22937	ENSG00000114650			Scap (MGI:2135958)
chr3	47495640	47513712	3p21.31	3p21.31	615020	ELP6, TMEM103, C3orf75	Elongator acetyltransferase complex, subunit 6	ELP6	54859	ENSG00000163832			Elp6 (MGI:1919349)
chr3	47562238	47580240	3p21.31	3p21.31	606775	CSPG5, NGC	Chondroitin sulfate proteoglycan 5	CSPG5	10675	ENSG00000114646			Cspg5 (MGI:1352747)
chr3	47585269	47781893	3p23-p21	3p21.31	601732	SMARCC1, BAF155, HYC5	SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily C, member 1	SMARCC1	6599	ENSG00000173473		{Hydrocephalus, congenital, 5, susceptibility to}, 620241 (3), Autosomal dominant	Smarcc1 (MGI:1203524)
chr3	47803138	47850193	3p21.31	3p21.31	616423	DHX30, DDX30, RETCOR, KIAA0890, NEDMIAL	DExH-box helicase 30	DHX30	22907	ENSG00000132153		Neurodevelopmental disorder with variable motor and speech impairment, 617804 (3), Autosomal dominant	Dhx30 (MGI:1920081)
chr3	47850695	48088848	3p21	3p21.31	157132	MAP4	Microtubule-associated protein 4	MAP4	4134	ENSG00000047849			Map4 (MGI:97178)
chr3	48157146	48188417	3p21	3p21.31	116947	CDC25A	Cell division cycle 25A	CDC25A	993	ENSG00000164045			Cdc25a (MGI:103198)
chr3	48223495	48225485	3p21.3	3p21.31	600474	CAMP, FALL39	Cathelicidin antimicrobial peptide	CAMP	820	ENSG00000164047			Camp (MGI:108443)
chr3	48241104	48270990	3p21	3p21.31	616702	ZNF589, SZF1	Zinc finger protein 589	ZNF589	51385	ENSG00000164048			
chr3	48288402	48301367	3p21.3	3p21.31	608294	NME6	NME/NM23 nucleoside diphosphate kinase 6	NME6	10201	ENSG00000172113			Nme6 (MGI:1861676)
chr3	48372219	48394725	3p21	3p21.31	609075	FBXW12, FBW12, FBXO35, FBXO12	F-box and WD40 domain protein 12	FBXW12	285231	ENSG00000164049			Fbxw13,Fbxw14,Fbxw15,Fbxw16,Fbxw18,Fbxw19,Fbxw20,Fbxw21,Fbxw22,Fbxw24,Fbxw25,Fbxw26,Fbxw27,Fbxw28 (MGI:1354703,MGI:1924248,MGI:2443323,MGI:2443324,MGI:3505590,MGI:3505701,MGI:3505704,MGI:3505706,MGI:3584372,MGI:3588266,MGI:3643290,MGI:3646659,MGI:3646662,MGI:3779847)
chr3	48403854	48430310	3p21.31	3p21.31	601053	PLXNB1, SEP	Plexin B1	PLXNB1	5364	ENSG00000164050			Plxnb1 (MGI:2154238)
chr3	48432173	48446652	3p21.31	3p21.31	618585	CCDC51, MITOK	Coiled-coil domain-containing protein 51	CCDC51	79714	ENSG00000164051			Ccdc51 (MGI:1913908)
chr3	48440257	48444208	3p21.31	3p21.31	615808	TMA7, HSPC016	Translation machinery-associated 7 homolog	TMA7	51372	ENSG00000232112			Tma7 (MGI:1913417)
chr3	48446737	48467645	3p21.3-p21.2	3p21.31	606605	ATRIP	ATR-interacting protein	ATRIP	84126	ENSG00000164053			Atrip (MGI:1925349)
chr3	48465830	48467645	3p21.3-p21.2	3p21.31	606609	TREX1, AGS1, CRV, HERNS, RVCLS	3' repair exonuclease 1	TREX1	11277	ENSG00000213689		Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, 192315 (3), Autosomal dominant; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3), Autosomal recessive, Autosomal dominant; {Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; Chilblain lupus, 610448 (3), Autosomal dominant	Trex1 (MGI:1328317)
chr3	48467876	48504810	3p21.3	3p21.31	607290	SHISA5, SCOTIN	Shisa family, member 5	SHISA5	51246	ENSG00000164054	pseudogene on Xq13.1-q13.3		Shisa5 (MGI:1915044)
chr3	48517684	48563136	3p22-p21	3p21.31	605320	PFKFB4	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4	PFKFB4	5210	ENSG00000114268			Pfkfb4 (MGI:2687284)
chr3	48561718	48563781	3p21.3	3p21.31	605902	UCN2, SRP, UR	Urocortin II	UCN2	90226	ENSG00000145040			Ucn2 (MGI:2176375)
chr3	48564073	48595329	3p21.3	3p21.31	120120	COL7A1, NDNC8	Collagen VII, alpha-1 polypeptide	COL7A1	1294	ENSG00000114270		Nail disorder, nonsyndromic congenital, 8, 607523 (3), Autosomal dominant; Epidermolysis bullosa dystrophica, Bart type, 132000 (3), Autosomal dominant; Epidermolysis bullosa dystrophica inversa, 226600 (3), Autosomal recessive; Epidermolysis bullosa dystrophica, autosomal recessive, 226600 (3), Autosomal recessive; Epidermolysis bullosa, pretibial, 131850 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa dystrophica, autosomal dominant, 131750 (3), Autosomal dominant; Transient bullous of the newborn, 131705 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa pruriginosa, 604129 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa dystrophica, localisata variant, 226600 (3), Autosomal recessive	Col7a1 (MGI:88462)
chr3	48599002	48609646	3p21.3	3p21.31	191328	UQCRC1, PKNPY	Ubiquinol-cytochrome c reductase core protein I	UQCRC1	7384	ENSG00000010256	close upstream of COL7A1	Parkinsonism with polyneuropathy, 619279 (3), Autosomal dominant	Uqcrc1 (MGI:107876)
chr3	48625723	48635461	3p21.3	3p21.31	610068	SLC26A6	Solute carrier family 26 (anion transporter), member 6	SLC26A6	65010	ENSG00000225697			Slc26a6 (MGI:2159728)
chr3	48636463	48662886	3p24.1-p21.2	3p21.31	604264	CELSR3, EGFL1, MEGF2	Cadherin EGF LAG seven-pass G-type receptor 3 (epidermal growth factor-like 1)	CELSR3	1951	ENSG00000008300			Celsr3 (MGI:1858236)
chr3	48673844	48685915	3p21	3p21.31	606671	NCKIPSD, AF3P21, SPIN90	NCK-interacting protein with SH3 domain	NCKIPSD	51517	ENSG00000213672			Nckipsd (MGI:1931834)
chr3	48688003	48717221	3p21	3p21.31	606992	IP6K2, IHPK2	Inositol hexaphosphate kinase 2	IP6K2	51447	ENSG00000068745			Ip6k2 (MGI:1923750)
chr3	48744591	48847874	3p21.31	3p21.31	176910	PRKAR2A	Protein kinase, cAMP-dependent, regulatory, type II, alpha	PRKAR2A	5576	ENSG00000114302			Prkar2a (MGI:108025)
chr3	48856926	48898882	3p21.31	3p21.31	613698	SLC25A20, CACT, CAC	Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (carnitine-acylcarnitine translocase)	SLC25A20	788	ENSG00000178537	pseudogene on 6p12	Carnitine-acylcarnitine translocase deficiency, 212138 (3), Autosomal recessive	Slc25a20 (MGI:1928738)
chr3	48918842	48986382	3p21	3p21.31	605615	ARIH2, ARI2, TRIAD1	Ariadne RBR E3 ubiquitin protein ligase 2	ARIH2	10425	ENSG00000177479			Arih2 (MGI:1344361)
chr3	48989908	49007153	3p21.31	3p21.31	614584	P4HTM, PH4, HIDEA	Prolyl 4-hydroxylase, transmembrane	P4HTM	54681	ENSG00000178467		Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 (3), Autosomal recessive	P4htm (MGI:1921693)
chr3	49007391	49015951	3p21.31	3p21.31	606031	WDR6	WD repeat-containing protein 6	WDR6	11180	ENSG00000178252	previously assigned to 15q21 by FISH		Wdr6 (MGI:1930140)
chr3	49015488	49021505	3p21.31	3p21.31	618904	DALRD3, DEE86	DALR anticodon-binding domain-containing protein 3	DALRD3	55152	ENSG00000178149	mutation identified in 1 DEE86 family	?Developmental and epileptic encephalopathy 86, 618910 (3), Autosomal recessive	Dalrd3 (MGI:1915039)
chr3	49020452	49023495	3p21.31	3p21.31	612911	NDUFAF3, MC1DN18	NADH-ubiquinone oxidoreductase complex assembly factor 3	NDUFAF3	25915	ENSG00000178057		Mitochondrial complex I deficiency, nuclear type 18, 618240 (3), Autosomal recessive	Ndufaf3 (MGI:1913956)
chr3	49020618	49020709	3p21.31	3p21.31	615150	MIR191	Micro RNA 191	MIR191	406966	ENSG00000207605			Mir191 (MGI:2676855)
chr3	49024325	49029398	3p21.2	3p21.31	146691	IMPDH2, IMPD2	Inosine-5'-monophosphate dehydrogenase, type II	IMPDH2	3615	ENSG00000178035		[IMPDH2 enzyme activity, variation in], 617995 (3)	Impdh2,Impdh2-ps (MGI:109367,MGI:3705743)
chr3	49029707	49094373	3p21.31	3p21.31	617387	QRICH1, VERBRAS	Glutamine-rich protein 1	QRICH1	54870	ENSG00000198218		Ververi-Brady syndrome, 617982 (3), Autosomal dominant	Qrich1 (MGI:1916482)
chr3	49095932	49104757	3p21	3p21.31	603727	QARS1, QARS, GLNRS, MSCCA	Glutaminyl-tRNA synthetase 1	QARS1	5859	ENSG00000172053		Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3), Autosomal recessive	Qars1 (MGI:1915851)
chr3	49108050	49120823	3p21.31	3p21.31	614471	USP19, KIAA0891	Ubiquitin-specific protease 19	USP19	10869	ENSG00000172046			Usp19 (MGI:1918722)
chr3	49121114	49133050	3p21	3p21.31	150325	LAMB2, LAMS, NPHS5, PIERS	Laminin, beta-2 (laminin S)	LAMB2	3913	ENSG00000172037		Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3), Autosomal recessive; Pierson syndrome, 609049 (3), Autosomal recessive	Lamb2 (MGI:99916)
chr3	49171598	49176486	3p21.31	3p21.31	613169	KLHDC8B, CHL	Kelch domain-containing protein 8B	KLHDC8B	200942	ENSG00000185909		{Hodgkin lymphoma, susceptibility to}, 236000 (3), Autosomal recessive	Klhdc8b (MGI:1925517)
chr3	49191309	49258106	3p21.31	3p21.31	619190	IHO1, CCDC36	Interactor of HORMAD1 1	IHO1	339834	ENSG00000173421			Iho1 (MGI:3612242)
chr3	49274120	49274186	3p21.31	3p21.31	617176	MIR4271	Micro RNA 4271	MIR4271	100422952	ENSG00000264633			
chr3	49277144	49340053	3p21.31	3p21.31	603486	USP4, UNP	Ubiquitin-specific protease-4	USP4	7375	ENSG00000114316			Usp4 (MGI:98905)
chr3	49357176	49358353	3p21.3	3p21.31	138320	GPX1, GPXD	Glutathione peroxidase-1	GPX1	2876	ENSG00000233276	?pseudogene on 3p11-p12	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1), Autosomal recessive	Gpx1 (MGI:104887)
chr3	49359145	49411976	3p21.3	3p21.31	165390	RHOA, ARHA, ARH12, RHOH12, EDFAOB	Ras homolog gene family, member A (oncogene RHO H12)	RHOA	387	ENSG00000067560		Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, 618727 (3)	Rhoa (MGI:1096342)
chr3	49412423	49416476	3p21	3p21.31	600690	TCTA	T-cell leukemia translocation altered gene	TCTA	6988	ENSG00000145022			Tcta (MGI:1918829)
chr3	49416778	49422473	3p21.2-p21.1	3p21.31	238310	AMT, NKH, GCE2	Aminomethyltransferase (glycine cleavage system protein T)	AMT	275	ENSG00000145020		Glycine encephalopathy 2, 620398 (3), Autosomal recessive	Amt (MGI:3646700)
chr3	49422333	49429324	3p21	3p21.31	611516	NICN1	Nicolin 1	NICN1	84276	ENSG00000145029	processed pseudogene on X		Nicn1 (MGI:1913507)
chr3	49468948	49535615	3p21	3p21.31	128239	DAG1, DAG, MDDGC9, MDDGA9, LGMDR16	Dystrophin-associated glycoprotein-1	DAG1	1605	ENSG00000173402		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3), Autosomal recessive	Dag1 (MGI:101864)
chr3	49554477	49673130	3p21.31	3p21.31	604020	BSN, ZNF231	Bassoon presynaptic cytomatrix protein	BSN	8927	ENSG00000164061			Bsn (MGI:1277955)
chr3	49673117	49683971	3p21	3p21.31	102645	APEH, D3S48E	N-acylaminoacyl-peptide hydrolase	APEH	327	ENSG00000164062			Apeh (MGI:88041)
chr3	49683947	49689474	3p21	3p21.31	142408	MST1, HGFL	Macrophage-stimulating-1 (hepatocyte growth factor-like)	MST1	4485	ENSG00000173531			Mst1 (MGI:96080)
chr3	49689557	49721529	3p21.31	3p21.31	614472	RNF123, KPC1	RING finger protein 123	RNF123	63891	ENSG00000164068			Rnf123 (MGI:2148796)
chr3	49716829	49719684	3p21.31	3p21.31	615691	AMIGO3, ALI3	Adhesion molecule with Ig-like domain 3	AMIGO3	386724	ENSG00000176020			Amigo3 (MGI:2444854)
chr3	49719916	49723951	3p21.31	3p21.31	615320	GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14, LGMDR19	GDP-mannose pyrophosphorylase B	GMPPB	29925	ENSG00000173540		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, 615351 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3), Autosomal recessive	Gmppb (MGI:2660880)
chr3	49724294	49786542	3p21.31	3p21.31	606991	IP6K1, IHPK1, KIAA0263	Inositol hexaphosphate kinase 1	IP6K1	9807	ENSG00000176095			Ip6k1 (MGI:1351633)
chr3	49803261	49805030	3p21.31	3p21.31	620426	INKA1, INCA	INKA box actin regulator 1	INKA1	389119	ENSG00000185614			Inka1 (MGI:1915426)
chr3	49805209	49813953	3p21	3p21.31	191325	UBA7, UBE7, UBE1L	Ubiquitin-like modifier activating enzyme 7	UBA7	7318	ENSG00000182179			Uba7 (MGI:1349462)
chr3	49828601	49856564	3p21.31	3p21.31	605958	TRAIP, TRIP, RNF206, SCKL9	TRAF-interacting protein	TRAIP	10293	ENSG00000183763		Seckel syndrome 9, 616777 (3), Autosomal recessive	Traip (MGI:1096377)
chr3	49857989	49869906	3p21.31	3p21.31	614993	CAMKV, 1G5	CAM kinase-like vesicle-associated	CAMKV	79012	ENSG00000164076			Camkv (MGI:2384296)
chr3	49887002	49903873	3p21.3	3p21.31	600168	MST1R, RON, NPCA3	Macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	MST1R	4486	ENSG00000164078		{Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3), Autosomal dominant	Mst1r (MGI:99614)
chr3	49908873	49929811	3p21.31	3p21.31	611464	MON1A, SAND1	MON1 homolog B, secretory trafficking associated	MON1A	84315	ENSG00000164077			Mon1a (MGI:1920075)
chr3	49940150	50077249	3p21.3	3p21.31	606886	RBM6, DEF3	RNA-binding motif protein 6	RBM6	10180	ENSG00000004534			Rbm6 (MGI:1338037)
chr3	50088919	50119021	3p21.3	3p21.31	606884	RMB5, LUCA15	RNA-binding motif protein 5	RBM5	10181	ENSG00000003756			Rbm5 (MGI:1933204)
chr3	50155058	50189075	3p21.3	3p21.31	601124	SEMA3F, SEMA4	Semaphorin III/F	SEMA3F	6405	ENSG00000001617			Sema3f (MGI:1096347)
chr3	50191610	50197696	3p21	3p21.31	139330	GNAT1, CSNBAD3, CSNB1G	Guanine nucleotide-binding protein (G protein), alpha-transducing (transducin) activity polypeptide-1	GNAT1	2779	ENSG00000114349		Night blindness, congenital stationary, autosomal dominant 3, 610444 (3), Autosomal dominant; Night blindness, congenital stationary, type 1G, 616389 (3), Autosomal recessive	Gnat1 (MGI:95778)
chr3	50205271	50221486	3p21.3	3p21.31	604437	SLC38A3, SN1, G17, DEE102	Solute carrier family 38, member 3	SLC38A3	10991	ENSG00000188338		Developmental and epileptic encephalopathy 102, 619881 (3), Autosomal recessive	Slc38a3 (MGI:1923507)
chr3	50227068	50263358	3p21	3p21.31	139360	GNAI2, GNAI2B, GIP	Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-2	GNAI2	2771	ENSG00000114353	on 12p13-p12, GNAI2L	Ventricular tachycardia, idiopathic, 192605 (3), Autosomal dominant; Pituitary adenoma, ACTH-secreting, somatic (3)	Gnai2 (MGI:95772)
chr3	50267652	50277546	3p21.3	3p21.31	601281	SEMA5	Semaphorin A(V)	SEMA3B	7869	ENSG00000012171			Sema3b (MGI:107561)
chr3	50287732	50292429	3p21.3	3p21.31	602725	IFRD2	Interferon-related developmental regulator-2	IFRD2	7866	ENSG00000214706			Ifrd2 (MGI:1316708)
chr3	50292832	50299405	3p21.3	3p21.31	604038	HYAL3, LUCA3	Hyaluronoglucosaminidase 3	HYAL3	8372	ENSG00000186792			Hyal3 (MGI:1330288)
chr3	50296402	50299405	3p21.3	3p21.31	607073	NAA80, FUS2, ANDS	N-alpha-acetyltransferase 80, NatH catalytic subunit	NAA80	24142	ENSG00000243477	mutation identified in 1 ANDS family	?Auroneurodental syndrome, 620830 (3), Autosomal recessive	Naa80 (MGI:1888902)
chr3	50299893	50312381	3p21.3-p21.2	3p21.31	607071	HYAL1, MPS9	Hyaluronoglucosaminidase 1	HYAL1	3373	ENSG00000114378		Mucopolysaccharidosis type IX, 601492 (3), Autosomal recessive	Hyal1 (MGI:96298)
chr3	50317808	50322745	3p21.3	3p21.31	603551	HYAL2, LUCA2, MCCS	Hyaluronoglucosaminidase 2	HYAL2	8692	ENSG00000068001		Muggenthaler-Chowdhury-Chioza syndrome, 621063 (3), Autosomal recessive	Hyal2 (MGI:1196334)
chr3	50324909	50328223	3p21.3	3p21.31	607052	FUS1	FUS1 gene	TUSC2	11334	ENSG00000114383			Tusc2 (MGI:1931086)
chr3	50329788	50340836	3p21.3	3p21.31	605082	RASSF1	Ras association domain family protein 1	RASSF1	11186	ENSG00000068028	epigenetically inactivated		Rassf1 (MGI:1928386)
chr3	50341112	50345732	3p21.3	3p21.31	607070	ZMYND10, BLU	Zinc finger MYND domain-containing protein 10	ZMYND10	51364	ENSG00000004838		Ciliary dyskinesia, primary, 22, 615444 (3), Autosomal recessive	Zmynd10 (MGI:2387863)
chr3	50347330	50350775	3p21.3	3p21.31	607072	NPRL2, FFEVF2	NPR2-like protein, GATOR1 complex subunit	NPRL2	10641	ENSG00000114388		Epilepsy, familial focal, with variable foci 2, 617116 (3), Autosomal dominant	Nprl2 (MGI:1914482)
chr3	50350862	50354069	3p21.3	3p21.31	607068	CYB561D2, 101F6	Cytochrome b-561 domain containing 2	CYB561D2	11068	ENSG00000114395			Cyb561d2 (MGI:1929280)
chr3	50354750	50359521	3p21.3	3p21.31	607069	TMEM115, PL6	Transmembrane protein 115	TMEM115	11070	ENSG00000126062			Tmem115 (MGI:1930765)
chr3	50362613	50504244	3p21.3	3p21.31	607082	CACNA2D2, KIAA0558, CASVDD	Calcium channel, voltage-dependent, alpha-2/delta subunit 2	CACNA2D2	9254	ENSG00000007402		Cerebellar atrophy with seizures and variable developmental delay, 618501 (3), Autosomal recessive	Cacna2d2 (MGI:1929813)
chr3	50569180	50596166	3p21.2	3p21.31	618609	HEMK1, MTQ1, MPRMC	HemK methyltransferase family, member 1	HEMK1	51409	ENSG00000114735			Hemk1 (MGI:1916786)
chr3	50606489	50611774	3p21.3	3p21.2	602441	CISH, BACTS2	Cytokine inducible SH2-containing protein	CISH	1154	ENSG00000114737		{Malaria, susceptibility to}, 611162 (3); {Bacteremia, susceptibility to}, 614383 (3); {Tuberculosis, susceptibility to}, 607948 (3)	Cish (MGI:103159)
chr3	50611520	50649291	3p21.3	3p21.2	602130	MAPKAPK3, 3PK, MDPT3	Mitogen-activated protein kinase-activated protein kinase-3	MAPKAPK3	7867	ENSG00000114738	mutation identified in 1 MDPT3 family	?Macular dystrophy, patterned, 3, 617111 (3), Autosomal dominant	Mapkapk3 (MGI:2143163)
chr3	50674927	51384198	3p14	3p21.2	603123	DOCK3, NEDIDHA	Dedicator of cytokinesis 3	DOCK3	1795	ENSG00000088538		Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 (3), Autosomal recessive	Dock3 (MGI:2429763)
chr3	51385291	51389397	3p21.1	3p21.2	601916	MANF, ARMET, ARP, DDDS	Mesencephalic astrocyte derived neurotrophic factor	MANF	7873	ENSG00000145050		Diabetes, deafness, developmental delay, and short stature syndrome, 620651 (3), Autosomal recessive	Manf (MGI:1922090)
chr3	51391285	51397908	3p21.1	3p21.2	612602	RBM15B, OTT3, HUMAGCGB	RNA-binding motif protein 15B	RBM15B	29890	ENSG00000259956			Rbm15b (MGI:1923598)
chr3	51395867	51505639	3p21.2	3p21.2	617259	DCAF1, RIP, VPRBP, KIAA0800	DDB1- and CUL4-associated factor 1	DCAF1	9730	ENSG00000145041			Dcaf1 (MGI:2445220)
chr3	51538719	51668660	3p21.2	3p21.2	620006	RAD54L2, ARIP4	RAD54-like 2	RAD54L2	23132	ENSG00000164080			Rad54l2 (MGI:1933196)
chr3	51671252	51704323	3p21.2	3p21.2	620608	TEX64	Testis-expressed gene 264	TEX264	51368	ENSG00000164081			Tex264 (MGI:1096570)
chr3	51707068	51718613	3p21.2-p21.1	3p21.2	604099	GRM2, MGLUR2	Glutamate receptor, metabotropic, 2	GRM2	2912	ENSG00000164082			Grm2 (MGI:1351339)
chr3	51933429	51941904	3p21.2	3p21.2	620013	RRP9	Ribosomal RNA-processing 9, U3 small nucleolar RNA-binding protein	RRP9	9136	ENSG00000114767			Rrp9 (MGI:2384313)
chr3	51942363	51948867	3p21.3-p21.1	3p21.2	607726	PARP3, ADPRTL3	Poly(ADP-ribose) polymerase 3	PARP3	10039	ENSG00000041880			Parp3 (MGI:1891258)
chr3	51955381	51957499	3p21.1	3p21.2	606917	GPR62	G protein-coupled receptor 62	GPR62	118442	ENSG00000180929			Gpr62 (MGI:3525078)
chr3	51957454	51967466	3p21.2	3p21.2	608503	PCBP4, MGC10	Poly(rC)-binding protein 4	PCBP4	57060	ENSG00000090097			Pcbp4 (MGI:1890471)
chr3	51968510	51974630	3p21.2	3p21.2	621040	ABHD14B	Abhydrolase domain-containing protein 14B	ABHD14B	84836	ENSG00000114779			Abhd14b (MGI:1923741)
chr3	51975064	51981196	3p21.2	3p21.2	618771	ABHD14A, DORZ1	Abhydrolase domain-containing protein 14A	ABHD14A	25864	ENSG00000248487			Abhd14a (MGI:1915894)
chr3	51983535	51989197	3p21.1	3p21.2	104620	ACY1, ACY1D	Aminoacylase-1	ACY1	95	ENSG00000243989		Aminoacylase 1 deficiency, 609924 (3), Autosomal recessive	Acy1 (MGI:87913)
chr3	51993522	51995895	3q29-qter	3p21.2	601832	RPL29, HIP	Ribosomal protein L29	RPL29	6159	ENSG00000162244			Rpl27rt,Rpl29 (MGI:3781727,MGI:99687)
chr3	52048919	52056571	3p21	3p21.2	602749	DUSP7, MKPX, PYST2	Dual-specificity phosphatase-7	DUSP7	1849	ENSG00000164086			Dusp7 (MGI:2387100)
chr3	52075226	52154423	3p21.2	3p21.2	614783	POC1A, PIX2, SOFT	POC1 centriolar protein A	POC1A	25886	ENSG00000164087		Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3), Autosomal recessive	Poc1a (MGI:1917485)
chr3	52198083	52214327	3p21.1	3p21.2	125290	ALAS1	Aminolevulinate, delta-, synthase-1	ALAS1	211	ENSG00000023330			Alas1 (MGI:87989)
chr3	52221080	52225645	3p21.3	3p21.2	605474	TLR9	Toll-like receptor 9	TLR9	54106	ENSG00000239732			Tlr9 (MGI:1932389)
chr3	52228612	52239158	3p21.1	3p21.2	607433	TWF2, PTK9L, A6RP	Twinfilin actin-binding protein 2	TWF2	11344	ENSG00000247596			Twf2 (MGI:1346078)
chr3	52245759	52250599	3p21.2	3p21.2	608979	PPM1M, PP2CE	Protein phosphatase 1M (protein phosphatase 2C, eta isoform)	PPM1M	132160	ENSG00000164088			Ppm1m (MGI:1915155)
chr3	52254434	52278649	3p21.1	3p21.2	611059	WDR82, TMEM113	WD repeat-containing protein 82	WDR82	80335	ENSG00000164091			Wdr82 (MGI:1924555)
chr3	52268278	52268361	3p21.1	3p21.2	612102	MIRLET7G, LET7G, MIRNLET7G	Micro RNA Let7G	MIRLET7G	406890	ENSG00000199150			Mirlet7g (MGI:2676800)
chr3	52287828	52295257	3p21	3p21.2	610516	GLYCTK, GLYCTK1	Glycerate kinase	GLYCTK	132158	ENSG00000168237		D-glyceric aciduria, 220120 (3), Autosomal recessive	Glyctk (MGI:2444085)
chr3	52310920	52400492	3p21.3	3p21.1	603332	DNAH1, HL11, DNAHC1, HDHC7, SPGF18, CILD37	Dynein, axonemal, heavy chain-1	DNAH1	25981	ENSG00000114841		Spermatogenic failure 18, 617576 (3), Autosomal recessive; Ciliary dyskinesia, primary, 37, 617577 (3), Autosomal recessive	Dnah1 (MGI:107721)
chr3	52401008	52410008	3p21.3	3p21.1	603089	BAP1, TPDS1, KURIS, UVM2	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	BAP1	8314	ENSG00000163930		Kury-Isidor syndrome, 619762 (3), Autosomal dominant; Tumor predisposition syndrome 1, 614327 (3), Autosomal dominant; {Uveal melanoma, susceptibility to, 2}, 606661 (3), Autosomal dominant	Bap1 (MGI:1206586)
chr3	52410660	52423641	3p21.1	3p21.1	620057	PHF7	PHD finger protein 7	PHF7	51533	ENSG00000010318			Phf7 (MGI:1919088)
chr3	52433035	52445103	3p21.1	3p21.1	620997	SEMA3G	Semaphorin 3G	SEMA3G	56920	ENSG00000010319			Sema3g (MGI:3041242)
chr3	52451100	52454041	3p21.3-p14.3	3p21.1	191040	TNNC1, CMD1Z, CMH13	Troponin-C1, slow	TNNC1	7134	ENSG00000114854		Cardiomyopathy, dilated, 1Z, 611879 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 13, 613243 (3), Autosomal dominant	Tnnc1 (MGI:98779)
chr3	52455604	52493068	3p21.1	3p21.1	615507	NISCH, IRAS, KIAA0975	Nischarin	NISCH	11188	ENSG00000010322			Nisch (MGI:1928323)
chr3	52495338	52524495	3p21.1	3p21.1	608560	STAB1, FEEL1, KIAA0246, HRFT	Stabilin 1	STAB1	23166	ENSG00000010327		[Hyperferritinemia], 620729 (3), Autosomal recessive	Stab1 (MGI:2178742)
chr3	52524387	52535027	3p21.1	3p21.1	621077	NT5DC2	5'-nucleotidase domain-containing protein 2	NT5DC2	64943	ENSG00000168268			Nt5dc2 (MGI:1917271)
chr3	52536605	52541890	3p21.1	3p21.1	620435	UQCC5, SMIM4	Ubiquinol-cytochrome c reductase complex assembly factor 5	UQCC5	440957	ENSG00000168273			Uqcc5 (MGI:1913737)
chr3	52545367	52685913	3p21	3p21.1	606083	PBRM1, PB1, BAF180, RCC	Polybromo 1	PBRM1	55193	ENSG00000163939	mutation identified in 1 ccRCC family	?Renal cell carcinoma, clear cell, 144700 (3)	Pbrm1 (MGI:1923998)
chr3	52685920	52694497	3p21.1	3p21.1	608011	GNL3, NS, E2IG3	Guanine nucleotide-binding protein-like 3	GNL3	26354	ENSG00000163938			Gnl3 (MGI:1353651)
chr3	52694486	52705791	3p21.1	3p21.1	618399	GLT8D1	Glycosyltransferase 8 domain-containing protein 1	GLT8D1	55830	ENSG00000016864			Glt8d1 (MGI:1923735)
chr3	52706106	52711148	3p21.1	3p21.1	610358	SPCS1, SPC12	Signal peptidase complex, subunit 1	SPCS1	28972	ENSG00000114902			Spcs1 (MGI:1916269)
chr3	52708444	52770940	3p21.1	3p21.1	601959	NEK4, STK2, NRK2	NIMA (never in mitosis gene a)-related kinase 4 (serine/threonine protein kinase-2)	NEK4	6787	ENSG00000114904			Nek4 (MGI:1344404)
chr3	52777599	52792068	3p21.2-p21.1	3p21.1	147270	ITIH1	Inter-alpha (globulin) inhibitor, H1 polypeptide	ITIH1	3697	ENSG00000055957			Itih1 (MGI:96618)
chr3	52794796	52808797	3p21.2-p21.1	3p21.1	146650	ITIH3	Inter-alpha (globulin) inhibitor, H3 polypeptide	ITIH3	3699	ENSG00000162267			Itih3 (MGI:96620)
chr3	52812962	52830672	3p21.2-p14.1	3p21.1	600564	ITIH4, PK120, ITIHL1	Inter-alpha (globulin) inhibitor, H4 polypeptide	ITIH4	3700	ENSG00000055955			Itih4 (MGI:109536)
chr3	52833121	52835019	3p21.1	3p21.1	617195	MUSTN1, MUSTANG	Musculoskeletal embryonic nuclear protein 1	MUSTN1	389125	ENSG00000272573			Mustn1 (MGI:1913425)
chr3	52836733	52897548	3p21.1	3p21.1	617189	TMEM110, STIMATE	Transmembrane protein 110	STIMATE	375346	ENSG00000213533			Stimate (MGI:1921500)
chr3	52903572	53046073	3p21.1	3p21.1	607319	SFMBT1, RU1	SCM-like protein with 4 MBT domains 1	SFMBT1	51460	ENSG00000163935			Sfmbt1 (MGI:1859609)
chr3	53066853	53130435	3p21.1	3p21.1	611908	RFT1, CDG1N	RFT1 homolog	RFT1	91869	ENSG00000163933		Congenital disorder of glycosylation, type In, 612015 (3), Autosomal recessive	Rft1 (MGI:3607791)
chr3	53161209	53192717	3p	3p21.1	176977	PRKCD, CVID9, ALPS3	Protein kinase C, delta	PRKCD	5580	ENSG00000163932	mutation identified in 1 family	Autoimmune lymphoproliferative syndrome, type III, 615559 (3), Autosomal recessive	Prkcd (MGI:97598)
chr3	53224712	53256022	3p14.3	3p21.1	606781	TKT, SDDHD	Transketolase	TKT	7086	ENSG00000163931		Short stature, developmental delay, and congenital heart defects, 617044 (3), Autosomal recessive	Tkt (MGI:105992)
chr3	53283429	53347543	3p21.1	3p21.1	607010	DCP1A, SMIF	Decapping mRNA 1A	DCP1A	55802	ENSG00000272886			Dcp1a (MGI:1923151)
chr3	53494611	53813733	3p21.1	3p21.1	114206	CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA	Calcium channel, voltage-dependent, L type, alpha 1D subunit	CACNA1D	776	ENSG00000157388		Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3), Autosomal dominant; Sinoatrial node dysfunction and deafness, 614896 (3), Autosomal recessive	Cacna1d (MGI:88293)
chr3	53846568	53865794	3p21.1	3p21.1	605458	IL17RB, IL17BR, IL17RH1	Interleukin 17, receptor B	IL17RB	55540	ENSG00000056736			Il17rb (MGI:1355292)
chr3	53858992	53882152	3p21.1	3p21.1	619716	ACTR8, ARP8	Actin-related protein 8	ACTR8	93973	ENSG00000113812			Actr8 (MGI:1860775)
chr3	53884417	53891859	3p21.31	3p21.1	607916	SELENOK, SELK, HSPC030	Selenoprotein K	SELENOK	58515	ENSG00000113811			Selenok (MGI:1931466)
chr3	54122552	55074557	3p21.1	3p21.1-p14.3	606399	CACNA2D3	Calcium channel, voltage-dependent, alpha-2/delta subunit 3	CACNA2D3	55799	ENSG00000157445			Cacna2d3 (MGI:1338890)
chr3	54400001	122200000	3p14-q13		608586	KTCN3	Keratoconus 3		406215			Keratoconus 3, 608586 (2), Autosomal dominant	
chr3	54632124	54639857	3p14.3	3p14.3	611473	ESRG, HESRG	Embryonic stem cell-related protein	ESRG	790952	ENSG00000265992			
chr3	55465715	55505263	3p21-p14	3p14.3	164975	WNT5A	Wingless-type MMTV integration site family, member 5A	WNT5A	7474	ENSG00000114251		Robinow syndrome, autosomal dominant 1, 180700 (3), Autosomal dominant	Wnt5a (MGI:98958)
chr3	55508311	56468467	3p14.3	3p14.3	617250	ERC2, CAST, KIAA0378	ELKS/RAB6-interacting/CAST family, member 2	ERC2	26059	ENSG00000187672			Erc2 (MGI:1098749)
chr3	56557156	56621837	3p14.3	3p14.3	619287	CCDC66	Coiled-coil domain-containing protein 66	CCDC66	285331	ENSG00000180376			Ccdc66 (MGI:2443639)
chr3	56620132	56683265	3p14.3	3p14.3	616493	FAM208A, RAP140, C3orf63, KIAA1105	Family with sequence similarity 208, member A	TASOR	23272	ENSG00000163946			Tasor (MGI:1921694)
chr3	56727420	57079268	3p21-p13	3p14.3	612115	ARHGEF3, XPLN	RHO guanine nucleotide exchange factor 3	ARHGEF3	50650	ENSG00000163947			Arhgef3 (MGI:1918954)
chr3	57060664	57075432	3p21.2-p21.1	3p14.3	609869	SPATA12, SRG5	Spermatogenesis-associated protein 12	SPATA12	353324	ENSG00000186451			
chr3	57089982	57170317	3p14.3-p14.2	3p14.3	606807	IL17RD, SEF, HH18	Interleukin 17, receptor D (Sef, zebrafish, homolog of)	IL17RD	54756	ENSG00000144730		Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3), Digenic dominant, Autosomal recessive, Autosomal dominant	Il17rd (MGI:2159727)
chr3	57197838	57227615	3p21.2-p21.1	3p14.3	601802	HESX1, RPX, CPHD5	Homeobox gene expressed in ES cells	HESX1	8820	ENSG00000163666		Pituitary hormone deficiency, combined, 5, 182230 (3), Autosomal recessive, Autosomal dominant; Septooptic dysplasia, 182230 (3), Autosomal recessive, Autosomal dominant; Growth hormone deficiency with pituitary anomalies, 182230 (3), Autosomal recessive, Autosomal dominant	Hesx1 (MGI:96071)
chr3	57227729	57273471	3p21.1-p14.3	3p14.3	604299	APPL1, APPL, MODY14	Adaptor protein containing PH domain, PTB domain, and leucine zipper motif 1	APPL1	26060	ENSG00000157500		{Maturity-onset diabetes of the young, type 14}, 616511 (3), Autosomal dominant	Appl1 (MGI:1920243)
chr3	57293700	57556034	3p21.1	3p14.3	603340	DNAH12, DNAHC3, HL19	Dynein, heavy chain-5	DNAH12	201625	ENSG00000174844			Dnah12 (MGI:107720)
chr3	57556274	57656495	3q21.2	3p14.3	616519	PDE12	Phosphodiesterase 12	PDE12	201626	ENSG00000174840			Pde12 (MGI:2443226)
chr3	57571363	57597344	3p14.1	3p14.3	601177	ARF4, ARF2	ADP-ribosylation factor 4	ARF4	378	ENSG00000168374			Arf4 (MGI:99433)
chr3	57625454	57693077	3p14.3	3p14.3	620561	DENND6A, FAM116A	DENN domain-containing protein 6A	DENND6A	201627	ENSG00000174839			Dennd6a (MGI:2442980)
chr3	57756309	57930013	3p21.2-p14.3	3p14.3	602701	SLAP	Sarcolemmal-associated protein	SLMAP	7871	ENSG00000163681			Slmap (MGI:1933549)
chr3	58008422	58172251	3p14.3	3p14.3	603381	FLNB, SCT, AOI, LRS1	Filamin B	FLNB	2317	ENSG00000136068		Larsen syndrome, 150250 (3), Autosomal dominant; Atelosteogenesis, type I, 108720 (3), Autosomal dominant; Atelosteogenesis, type III, 108721 (3), Autosomal dominant; Spondylocarpotarsal synostosis syndrome, 272460 (3), Autosomal recessive; Boomerang dysplasia, 112310 (3), Autosomal dominant	Flnb (MGI:2446089)
chr3	58192257	58210972	3p21.1-p14.3	3p14.3	602244	DNASE1L3, SLEB16	Deoxyribonuclease I-like 3	DNASE1L3	1776	ENSG00000163687		Systemic lupus erythematosus 16, 614420 (3), Autosomal recessive	Dnase1l3 (MGI:1314633)
chr3	58237792	58294734	3p14.3	3p14.3	616966	ADHB6	Abhydrolase domain-containing protein 6, acylglycerol lipase	ABHD6	57406	ENSG00000163686			Abhd6 (MGI:1913332)
chr3	58306245	58320193	3p14.3	3p14.3	620769	HTD2	Hydroxyacyl-thioester dehydratase, type 2	HTD2	109703458	ENSG00000255154			
chr3	58306245	58320193	3p14.3	3p14.3	606112	RPP14	Ribonuclease P/MRP subunit p14	RPP14	11102	ENSG00000163684			Rpp14 (MGI:1914303)
chr3	58332892	58426127	3p14.3	3p14.3	611450	PXK, MONAKA	PXK domain-containing serine/threonine kinase	PXK	54899	ENSG00000168297			Pxk (MGI:1289230)
chr3	58427630	58433832	3p13-q23	3p14.3	179060	PDHB, PDHBD	Pyruvate dehydrogenase E1, subunit beta	PDHB	5162	ENSG00000168291		Pyruvate dehydrogenase E1-beta deficiency, 614111 (3), Autosomal recessive	Pdhb (MGI:1915513)
chr3	58492096	58502360	3p14.3	3p14.3	618791	KCTD6, KCASH3	Potassium channel tetramerization domain-containing protein 6	KCTD6	200845	ENSG00000168301			Kctd6 (MGI:1918643)
chr3	58505136	58537190	3p14.3	3p14.3	601641	ACOX2, BRCACOX, CBAS6	Acyl-Coenzyme A oxidase 2, branched chain	ACOX2	8309	ENSG00000168306		Bile acid synthesis defect, congenital, 6, 617308 (3), Autosomal recessive	Acox2 (MGI:1934852)
chr3	58564117	58627610	3p21.1	3p14.3-p14.2	608295	FAM107A, DRR1, TU3A	Family with sequence similarity 107, member A (downregulated in renal cell carcinoma 1)	FAM107A	11170	ENSG00000168309			Fam107a (MGI:3041256)
chr3	58633946	58666774	3p14.2	3p14.2	608619	FAM3D	Family with sequence similarity 3, member D	FAM3D	131177	ENSG00000198643			Fam3d (MGI:1201784)
chr3	59747277	61251452	3p14.2	3p14.2	601153	FRA3B, FHIT	Fragile histidine triad gene	FHIT	2272	ENSG00000189283	deleted in RCC		Fhit (MGI:1277947)
chr3	61561571	62297609	3p14.2	3p14.2	176886	PTPRG, PTPG	Protein tyrosine phosphatase, receptor type, gamma polypeptide	PTPRG	5793	ENSG00000144724			Ptprg (MGI:97814)
chr3	62369681	62373550	3p14.2	3p14.2	607414	FEZF2, ZNF312, FEZL, TOF	FEZ family zinc finger 2	FEZF2	55079	ENSG00000153266			Fezf2 (MGI:1859823)
chr3	62398348	62875416	3p21.1	3p14.2	604667	CADPS, CAPS	Ca(2+)-dependent activator protein for secretion	CADPS	8618	ENSG00000163618			Cadps (MGI:1350922)
chr3	63652675	63665212	3p14.2	3p14.2	617832	SNTN, S100AL, S100A1L	Sentan, cilia apical structural protein	SNTN	132203	ENSG00000188817			Sntn (MGI:3045373)
chr3	63800001	103100000	3p14.1-q12.3		610948	HYT7	Hypertension, essential, susceptibility to, 7		100188825			{Hypertension, essential, susceptibility to, 7}, 610948 (2)	
chr3	63833870	63864484	3p14.1	3p14.1	611965	THOC7, NIF3L1BP1	THO complex, subunit 7	THOC7	80145	ENSG00000163634			Thoc7 (MGI:1913481)
chr3	63863144	64003462	3p14.1	3p14.1	607640	ATXN7, SCA7, OPCA3	Ataxin 7	ATXN7	6314	ENSG00000163635		Spinocerebellar ataxia 7, 164500 (3), Autosomal dominant	Atxn7 (MGI:2179277)
chr3	63911512	63912383	3p14.1	3p14.1	614481	ATXN7AS1, SCAANT1	ATXN7 antisense noncoding transcript 1	SCAANT1	100861563	ENSG00000280620			
chr3	64010551	64024007	3p14.1	3p14.1	617857	PSMD6, KIAA0107	Proteasome 26S subunit, non-ATPase, 6	PSMD6	9861	ENSG00000163636			Psmd6 (MGI:1913663)
chr3	64092236	64268173	3p14	3p14.1	608501	PRICKLE2	Prickle-like 2	PRICKLE2	166336	ENSG00000163637			Prickle2 (MGI:1925144)
chr3	64515654	64688000	3p14.3-p14.2	3p14.1	605421	ADAMTS9	ADAM metallopeptidase with thrombospondin type 1 motif 9	ADAMTS9	56999	ENSG00000163638			Adamts9 (MGI:1916320)
chr3	65353526	66038918	3p14.1	3p14.1	602625	MAGI1, BAIAP1, WWP3, TNRC19	Membrane-associated guanylate kinase, WW and PDZ domains-containing, 1	MAGI1	9223	ENSG00000151276			Magi1 (MGI:1203522)
chr3	66133610	66378927	3p14.3	3p14.1	611037	SLC25A26, SAMC, COXPD28	Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26	SLC25A26	115286	ENSG00000144741		Combined oxidative phosphorylation deficiency 28, 616794 (3), Autosomal recessive	Slc25a26 (MGI:1914832)
chr3	66378797	66501121	3p14	3p14.1	608868	LRIG1, LIG1	Leucine-rich repeats- and immunoglobulin-like domains-containing protein 1	LRIG1	26018	ENSG00000144749			Lrig1 (MGI:107935)
chr3	66998307	67011210	3p14.1	3p14.1	616607	KBTBD8, TAKRP, KIAA1842	Kelch repeat- and BTB/POZ domain-containing protein 8	KBTBD8	84541	ENSG00000163376			Kbtbd8 (MGI:2661430)
chr3	67360460	67654612	3p14.1	3p14.1	603922	SUCLG2	Succinate-CoA ligase, GDP-forming, beta subunit	SUCLG2	8801	ENSG00000172340			Suclg2 (MGI:1306824)
chr3	67991544	68545621	3p14.1	3p14.1	617495	TAFA1, FAM19A1	TAFA chemokine-like family member 1	TAFA1	407738	ENSG00000183662			Tafa1 (MGI:2443695)
chr3	68731766	68932547	3p14.1	3p14.1	617498	FAM19A4, TAFA4	Family with sequence similarity 19, member A4, CC motif chemokine-like	TAFA4	151647	ENSG00000163377			Tafa4 (MGI:2444563)
chr3	68975225	69013684	3p14.1	3p14.1	614789	EOGT, EOGT1, C3orf64, AOS4	EGF domain-specific O-linked N-acetylglucosamine transferase	EOGT	285203	ENSG00000163378		Adams-Oliver syndrome 4, 615297 (3), Autosomal recessive	Eogt (MGI:2141669)
chr3	69019827	69052333	3p21-p12	3p14.1	601126	TMF1	TATA element modulatory factor 1	TMF1	7110	ENSG00000144747			Tmf1 (MGI:2684999)
chr3	69054730	69080373	3p14.1	3p14.1	603172	UBA3, UBE1C	Ubiquitin-like modifier activating enzyme 3	UBA3	9039	ENSG00000144744			Uba3 (MGI:1341217)
chr3	69084937	69106092	3p14	3p14.1	605709	ARL6IP5	ADP ribosylation factor-like GTPase 6 interacting protein 5	ARL6IP5	10550	ENSG00000144746			Arl6ip5 (MGI:1929501)
chr3	69106065	69122595	3p14.1	3p14.1	616112	LMOD3, NEM10	Leiomodin 3	LMOD3	56203	ENSG00000163380		Nemaline myopathy 10, 616165 (3), Autosomal recessive	Lmod3 (MGI:2444169)
chr3	69168782	69542586	3p14.1	3p14.1	617467	FRMD4B, GRSP1, KIAA1013	FERM domain-containing protein 4B	FRMD4B	23150	ENSG00000114541			Frmd4b (MGI:2141794)
chr3	69739464	69968332	3p14.1-p12.3	3p13	156845	MITF, WS2A, CMM8, COMMAD	Microphthalmia-associated transcription factor	MITF	4286	ENSG00000187098		Waardenburg syndrome, type 2A, 193510 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); Tietz albinism-deafness syndrome, 103500 (3), Autosomal dominant; COMMAD syndrome, 617306 (3), Autosomal recessive	Mitf (MGI:104554)
chr3	69999588	70434589	3p13	3p13	616895	SAMMSON, LINC01212	Survival-associated mitochondrial melanoma-specific oncogenic noncoding RNA	SAMMSON	101927152	ENSG00000240405			
chr3	70954708	71583978	3p14.1	3p13	605515	FOXP1, QRF1	Forkhead box P1	FOXP1	27086	ENSG00000114861		Intellectual developmental disorder with language impairment with or without autistic features, 613670 (3), Autosomal dominant	Foxp1 (MGI:1914004)
chr3	71659363	71754773	3p14	3p13	609896	EIF4E3	Eukaryotic translation initiation factor 4E family, member 3	EIF4E3	317649	ENSG00000163412			Eif4e3 (MGI:1914142)
chr3	71753855	71756496	3p21-p14	3p13	605187	GPR27, SREB1	G protein-coupled receptor 27	GPR27	2850	ENSG00000170837			Gpr27 (MGI:1202299)
chr3	71771655	71785148	3p21.1	3p13	607002	PROK2, PK2, BV8, HH4	Prokineticin 2	PROK2	60675	ENSG00000163421		Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3), Autosomal dominant	Prok2 (MGI:1354178)
chr3	72374597	72446623	3p13	3p13	607535	RYBP, YEAF1	RING1- and YY1-binding protein	RYBP	23429	ENSG00000163602			Rybp,Rybp-ps (MGI:1929059,MGI:3648043)
chr3	72725272	72848445	3p13	3p13	613663	SHQ1, DYT35, NEDDS	SHQ1, H/ACA ribonucleoprotein assembly factor	SHQ1	55164	ENSG00000144736	mutation identified in 1 DYT35 family	Neurodevelopmental disorder with dystonia and seizures, 619922 (3), Autosomal recessive; ?Dystonia 35, childhood-onset, 619921 (3), Autosomal recessive	Shq1 (MGI:1919421)
chr3	72888046	72976915	3p13	3p13	613322	GXYLT2, GLT8D4	Glucoside xylosyltransferase 2	GXYLT2	727936	ENSG00000172986			Gxylt2 (MGI:2682940)
chr3	72996743	73069198	3p13	3p13	613822	PPP4R2, PP4R2	Protein phosphatase 4, regulatory subunit 2	PPP4R2	151987	ENSG00000163605			Ppp4r2 (MGI:3027896)
chr3	73061659	73063337	3p14-p13	3p13	613250	EBLN2	Endogenous Borna-like N element-containing protein 2	EBLN2	55096	ENSG00000255423			
chr3	73382431	73624941	3p13	3p13	609729	PDZRN3, KIAA1095	PDZ domain-containing ring finger protein 3	PDZRN3	23024	ENSG00000121440			Pdzrn3 (MGI:1933157)
chr3	74100001	122200000	3p12-q13		606896	DYX5	Dyslexia, susceptibility to, 5		171089		?same locus as SSD	{Dyslexia, susceptibility to, 5}, 606896 (2)	
chr3	74100001	122200000	3p12-q13		608445	SSD	Speech-sound disorder		404713		?same locus as DYX5	{Speech-sound disorder}, 608445 (2)	
chr3	74262568	74614659	3p26	3p12.3	601325	CNTN3, PANG	Contactin 3 (plasmocytoma-associated neuronal glycoprotein)	CNTN3	5067	ENSG00000113805			Cntn3 (MGI:99534)
chr3	75694701	75785549	3p12.3	3p12.3	618405	ZNF717, OB1	Zinc finger protein 717	ZNF717	100131827	ENSG00000227124			Zfp39 (MGI:99183)
chr3	75906675	77649964	3p12.3	3p12.3	602431	ROBO2, SAX3, KIAA1568	Roundabout guidance receptor 2	ROBO2	6092	ENSG00000185008		Vesicoureteral reflux 2, 610878 (3), Autosomal dominant	Robo2 (MGI:1890110)
chr3	78597239	79767998	3p12	3p12.3	602430	ROBO1, DUTT1, SAX3, CPHD8, NYS8, NORS	Roundabout guidance receptor 1	ROBO1	6091	ENSG00000169855	mutation identified in 1 NYS8 family	Pituitary hormone deficiency, combined or isolated, 8, 620303 (3), Autosomal dominant; Neurooculorenal syndrome, 620305 (3), Autosomal recessive; ?Nystagmus 8, congenital, autosomal recessive, 257400 (3), Autosomal recessive	Robo1 (MGI:1274781)
chr3	81489703	81761645	3p12	3p12.2	607839	GBE1, GSD4, APBD	Glycogen branching enzyme	GBE1	2632	ENSG00000114480		Glycogen storage disease IV, 232500 (3), Autosomal recessive; Polyglucosan body disease, adult form, 263570 (3), Autosomal recessive	Gbe1 (MGI:1921435)
chr3	84958989	86074429	3p12	3p12.1	609938	CADM2, IGSF4D, SYNCAM2, NECL3	Cell adhesion molecule 2	CADM2	253559	ENSG00000175161			Cadm2 (MGI:2442722)
chr3	86937973	86991149	3p12.1	3p12.1	609980	VGLL3, VGL3	Vestigial-like 3	VGLL3	389136	ENSG00000206538			Vgll3 (MGI:1920819)
chr3	87227309	87255556	3p11.2	3p11.2	609512	CHMP2B, DMT1, VPS2B, FTDALS7	Charged multivesicular body protein 2B	CHMP2B	25978	ENSG00000083937		Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, 600795 (3), Autosomal dominant	Chmp2b (MGI:1916192)
chr3	87259404	87276584	3p11	3p11.2	173110	POU1F1, PIT1, CPHD1	POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)	POU1F1	5449	ENSG00000064835		Pituitary hormone deficiency, combined or isolated, 1, 613038 (3), Autosomal recessive, Autosomal dominant	Pou1f1 (MGI:97588)
chr3	87792706	87993839	3p12	3p11.2-p11.1	182134	HTR1F, HTR1EL, MR77	5-hydroxytryptamine receptor 1F	HTR1F	3355	ENSG00000179097			Htr1f (MGI:99842)
chr3	88051950	88149870	3p12-p11.1	3p11.1	603363	CGGBP1	CGG triplet repeat binding protein 1	CGGBP1	8545	ENSG00000163320			Cggbp1 (MGI:2146370)
chr3	89107621	89482134	3p11.2	3p11.1	179611	EPHA3, ETK1, HEK	Ephrin receptor EphA3 (human embryo kinase 1)	EPHA3	2042	ENSG00000044524			Epha3 (MGI:99612)
chr3	90900001	122200000	3cen-q13		614012	ERVK-5, HERV-KII	Endogenous retrovirus group K, member 5		60358				
chr3	93873051	93973896	3q11.2	3q11.1	176880	PROS1, THPH5, THPH6	Protein S, alpha	PROS1	5627	ENSG00000184500	pseudogene PROSP contiguous on chr.3	Thrombophilia 5 due to protein S deficiency, autosomal recessive, 614514 (3), Autosomal recessive; Thrombophilia 5 due to protein S deficiency, autosomal dominant, 612336 (3), Autosomal dominant	Pros1 (MGI:1095733)
chr3	93980155	94055678	3q11.2	3q11.1-q11.2	608922	ARL13B, ARL2L1, JBTS8	ADP ribosylation factor-like GTPase 13B	ARL13B	200894	ENSG00000169379		Joubert syndrome 8, 612291 (3), Autosomal recessive	Arl13b (MGI:1915396)
chr3	94000001	108200000	3q11.2-q13.12		114200	CAMPD1	Camptodactyly 1		100381210		between D3S2465 and D3S3044	Camptodactyly 1, 114200 (2), Autosomal dominant	
chr3	94000001	98600000	3q11.2		620119	LNC-CRYBG3	Long noncoding RNA downstream of crystallin beta-gamma domain containing 3						
chr3	94057922	94063320	3q11.2	3q11.2	616588	DHFRL1	Dihydrofolate reductase-like 1	DHFR2	200895	ENSG00000178700			Dhfr (MGI:94890)
chr3	94063061	94131832	3q11.2	3q11.2	617491	NSUN3, COXPD48	NOP2/SUN RNA methyltransferase family, member 3	NSUN3	63899	ENSG00000178694		Combined oxidative phosphorylation deficiency 48, 619012 (3), Autosomal recessive	Nsun3 (MGI:2146565)
chr3	96814594	97761532	3q11.2	3q11.2	600066	EPHA6, HEK12, EHK2	Ephrin receptor EphA6	EPHA6	285220	ENSG00000080224			Epha6 (MGI:108034)
chr3	97764521	97801242	3p12-q13	3q11.2	608845	ARL6, BBS3, RP55	ADP ribosylation factor-like GTPase 6	ARL6	84100	ENSG00000113966		Retinitis pigmentosa 55, 613575 (3), Autosomal recessive; {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Digenic recessive, Autosomal recessive; Bardet-Biedl syndrome 3, 600151 (3), Autosomal recessive	Arl6 (MGI:1927136)
chr3	97822011	97944984	3q11.2	3q11.2	620146	CRYBG3	Crystallin beta-gamma domain-containing protein 3	CRYBG3	131544	ENSG00000080200			Crybg3 (MGI:2676311)
chr3	97941818	97972431	3q12.1	3q11.2	612049	RIOX2, MINA, MINA53, MDIG	Ribosomal oxygenase 2	RIOX2	84864	ENSG00000170854			Riox2 (MGI:1914264)
chr3	97985102	98035315	3q11.2	3q11.2	618668	GABRR3	Gamma-aminobutyric acid receptor, RHO-3	GABRR3	200959	ENSG00000183185			Gabrr3 (MGI:3588203)
chr3	98515483	98522902	3q12.1	3q11.2	619677	CLDND1, C3orf4	Claudin domain-containing protein 1	CLDND1	56650	ENSG00000080822			Cldnd1 (MGI:2447860)
chr3	98531978	98534681	3q11.2-q13.1	3q11.2	601166	GPR15	G protein-coupled receptor-15	GPR15	2838	ENSG00000154165			Gpr15 (MGI:1918473)
chr3	98570488	98593611	3q12	3q11.2	612732	CPOX, HARPO	Coproporphyrinogen oxidase	CPOX	1371	ENSG00000080819		Coproporphyria, 121300 (3), Autosomal recessive, Autosomal dominant; Harderoporphyria, 618892 (3), Autosomal recessive	Cpox (MGI:104841)
chr3	98732262	98795852	3q12.1	3q12.1	607156	ST3GAL6, ST3GALVI	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	ST3GAL6	10402	ENSG00000064225			St3gal6 (MGI:1888707)
chr3	98795941	98901695	3q12.1	3q12.1	608698	DCBLD2, ESDN	Discoidin, CUB, and LCCL domain-containing protein 2	DCBLD2	131566	ENSG00000057019			Dcbld2 (MGI:1920629)
chr3	99638594	99799217	3q12-q13.1	3q12.1	120251	COL8A1	Collagen VIII, alpha-1 polypeptide	COL8A1	1295	ENSG00000144810			Col8a1 (MGI:88463)
chr3	99828811	100114501	3q12.1	3q12.1	612993	FILIP1L	Filamin A-interacting protein 1-like	FILIP1L	11259	ENSG00000168386			Filip1l (MGI:1925999)
chr3	100185824	100194186	3q12	3q12.1	611030	TMEM30C, CDC50C	Transmembrane protein 30C	TMEM30CP	644444	ENSG00000293379			
chr3	100260992	100325238	3q12.1-q12.2	3q12.1-q12.2	617687	TBC1D23, PCH11	TBC1 domain family, member 23	TBC1D23	55773	ENSG00000036054		Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive	Tbc1d23 (MGI:1914831)
chr3	100334757	100361635	3q12.2	3q12.2	616769	NIT2	Nitrilase family member 2	NIT2	56954	ENSG00000114021			Nit2 (MGI:1261838)
chr3	100363431	100401089	3q12.2	3q12.2	606081	TOMM70	Translocase of outer mitochondrial membrane 70	TOMM70	9868	ENSG00000154174			Tomm70a (MGI:106295)
chr3	100492619	100577444	3q12.2	3q12.2	616928	TMEM45A, DERP7, DNAPTP4	Transmembrane protein 45A	TMEM45A	55076	ENSG00000181458			Tmem45a (MGI:1913122)
chr3	100609601	100695479	3q12.2	3q12.2	612307	ADGRG7, GPR128	Adhesion G protein-coupled receptor G7	ADGRG7	84873	ENSG00000144820			Adgrg7 (MGI:2441732)
chr3	100709290	100748967	3q11-q12	3q12.2	602498	TFG, HMSNP, SPG57	Trafficking from ER to Golgi regulator	TFG	10342	ENSG00000114354	fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family	?Spastic paraplegia 57, autosomal recessive, 615658 (3), Autosomal recessive; Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3), Autosomal dominant	Tfg (MGI:1338041)
chr3	100749156	100993421	3q12	3q12.2	606279	TARSH	Target of Nesh-SH3	ABI3BP	25890	ENSG00000154175			Abi3bp (MGI:2444583)
chr3	101222546	101320575	3q11.2	3q12.3	607056	IMPG2, IPM200, RP56, VMD5	Interphotoreceptor matrix proteoglycan 2	IMPG2	50939	ENSG00000081148		Retinitis pigmentosa 56, 613581 (3), Autosomal recessive; Macular dystrophy, vitelliform, 5, 616152 (3), Autosomal dominant	Impg2 (MGI:3044955)
chr3	101324205	101513212	3q12.3	3q12.3	612846	SENP7, KIAA1707	Sentrin-specific protease family, member 7	SENP7	57337	ENSG00000138468			Senp7 (MGI:1913565)
chr3	101561868	101566446	3q12.3	3q12.3	615423	TRMT10C, RG9MTD1, MRPP1, COXPD30	tRNA methyltransferase 10C, mitochondrial RNase P subunit	TRMT10C	54931	ENSG00000174173		Combined oxidative phosphorylation deficiency 30, 616974 (3), Autosomal recessive	Trmt10c (MGI:1196261)
chr3	101574094	101594465	3q12.3	3q12.3	615210	PCNP	PEST-containing nuclear protein	PCNP	57092	ENSG00000081154			Pcnp (MGI:1923552)
chr3	101648889	101677132	3q12.3	3q12.3	618181	ZBTB11, MRT69	Zinc finger- and BTB domain-containing protein 11	ZBTB11	27107	ENSG00000066422		Intellectual developmental disorder, autosomal recessive 69, 618383 (3), Autosomal recessive	Zbtb11 (MGI:2443876)
chr3	101681091	101686718	3q	3q12.3	604180	RPL24	Ribosomal protein L24	RPL24	6152	ENSG00000114391			Rpl24 (MGI:1915443)
chr3	101724614	101770562	3q12.2	3q12.3	615864	CEP97	Centrosomal protein, 97kD	CEP97	79598	ENSG00000182504			Cep97 (MGI:1921451)
chr3	101827990	101861022	3q12.3	3q12.3	608004	NFKBIZ, INAP, MAIL, IKBZ	Nuclear factor kappa-B inhibitor, zeta	NFKBIZ	64332	ENSG00000144802			Nfkbiz (MGI:1931595)
chr3	102385144	102479841	3q12.3	3q12.3	615915	ZPLD1	Zona pellucida-like domain-containing protein 1	ZPLD1	131368	ENSG00000170044			Zpld1 (MGI:2443415)
chr3	103100001	122200000	3q13		608901	CHDS5	Coronary heart disease, susceptibility to, 5					{Coronary heart disease, susceptibility to, 5}, 608901 (2)	
chr3	103100001	111600000	3q13.1		600467	MHS4	Malignant hyperthermia susceptibility 4		4265			{Malignant hyperthermia susceptibility 4}, 600467 (2), Autosomal dominant	
chr3	105366909	105576900	3q13.1-q13.2	3q13.11	601662	ALCAM	Activated leukocyte cell adhesion molecule	ALCAM	214	ENSG00000170017			Alcam (MGI:1313266)
chr3	105655461	105869449	3q13.11	3q13.11	604491	CBLB, ADMIO3	CAS-BR-M murine ecotropic retroviral transforming sequence B	CBLB	868	ENSG00000114423		Autoimmune disease, multisystem, infantile-onset, 3, 620430 (3), Autosomal recessive	Cblb (MGI:2146430)
chr3	107240692	107326964	3q13.12	3q13.12	616619	DUBR, DUM, LINC0883	DPPA2 upstream-binding RNA, noncoding	DUBR	344595	ENSG00000243701			Dubr (MGI:1915440)
chr3	108043091	108091031	3q13.1-q13.2	3q13.12	601028	CD47, MER6, IAP	CD47 antigen (Rh-related antigen; integrin-associated protein)	CD47	961	ENSG00000196776			Cd47 (MGI:96617)
chr3	108160812	108222424	3p12-q13	3q13.12-q13.13	606621	IFT57, ESRRBL1, HIPPI, OFD18	Intraflagellar transport 57 (HIP1 protein interactor)	IFT57	55081	ENSG00000114446	mutation identified in 1 OFD18 family	?Orofaciodigital syndrome XVIII, 617927 (3), Autosomal recessive	Ift57 (MGI:1921166)
chr3	108296548	108378285	3q13.13	3q13.13	604371	HHLA2	Human endogenous retrovirus-H long terminal repeat-associating 2	HHLA2	11148	ENSG00000114455			
chr3	108380368	108551072	3q13.13	3q13.13	609929	MYH15	Myosin, heavy chain 15	MYH15	22989	ENSG00000144821			Myh15 (MGI:3643515)
chr3	108549864	108589438	3q13.13	3q13.13	610643	CIP2A, KIAA1524, p90	Cell proliferation-regulating inhibitor of protein phosphatase 2A	CIP2A	57650	ENSG00000163507			Cip2a (MGI:2146335)
chr3	108589510	108694840	3q13.13	3q13.13	608672	DZIP3, KIAA0675	DAZ-interacting zinc finger protein 3	DZIP3	9666	ENSG00000198919			Dzip3 (MGI:1917433)
chr3	108755638	108757410	3q13.13	3q13.13	605645	RETNLB, RELMB, FIZZ2	Resistin-like protein, beta	RETNLB	84666	ENSG00000163515			Retnla,Retnlb,Retnlg (MGI:1888504,MGI:1888505,MGI:2667763)
chr3	108822786	108855005	3q13	3q13.13	604962	TRAT1, TRIM	T-cell receptor-associated transmembrane adaptor 1	TRAT1	50852	ENSG00000163519			Trat1 (MGI:1924897)
chr3	108907792	108955195	3q13.1	3q13.13	605128	GUCA1C, GCAP3	Guanylate cyclase activator 1C	GUCA1C	9626	ENSG00000138472			
chr3	108958248	109118134	3q13	3q13.13	603205	MORC1	MORC family CW-type zinc finger 1 (microrchidia, mouse, homolog of)	MORC1	27136	ENSG00000114487			Morc1 (MGI:1316740)
chr3	109293788	109316517	3q13.13	3q13.13	614445	DPPA2, PESCRG1, ECAT15-2	Developmental pluripotency-associated gene 2	DPPA2	151871	ENSG00000163530			Dppa2 (MGI:2157523)
chr3	109326144	109339636	3q13.13	3q13.13	614125	DPPA4	Developmental pluripotency-associated gene 4	DPPA4	55211	ENSG00000121570			Dppa4 (MGI:2157525)
chr3	111071816	111194170	3q13	3q13.13	607147	NECTIN3, PVRL3, PRR3	Nectin 3	NECTIN3	25945	ENSG00000177707			Nectin3 (MGI:1930171)
chr3	111542197	111665996	3q13.13	3q13.13-q13.2	606037	CD96, TACTILE	CD96 antigen	CD96	10225	ENSG00000153283		C syndrome, 211750 (3), Autosomal dominant	Cd96 (MGI:1934368)
chr3	111592900	111595346	3q13.2	3q13.13	615246	ZBED2	Zinc finger BED domain-containing protein 2	ZBED2	79413	ENSG00000177494			
chr3	111600001	122200000	3q13.2-q13.33		614655	STUT3	Stuttering, familial persistent, 3		100909386		max lod at D3S1310	Stuttering, familial persistent, 3, 614655 (2)	
chr3	111674676	111727007	3q13.2	3q13.2	617015	PLCXD1	Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 2	PLCXD2	257068	ENSG00000240891			Plcxd2 (MGI:3647874)
chr3	111732496	111976517	3q13.2	3q13.2	610298	PHLDB2	Pleckstrin homology-like domain, family B, member 2	PHLDB2	90102	ENSG00000144824			Phldb2 (MGI:2444981)
chr3	111979026	111993368	3q13.2	3q13.2	618756	ABHD10	Abhydrolase domain-containing protein 10, depalmitoylase	ABHD10	55347	ENSG00000144827			Abhd10 (MGI:2442422)
chr3	111998922	112013885	3q13.2	3q13.2	607953	TAGLN3, NP24, NP22	Transgelin 3	TAGLN3	29114	ENSG00000144834			Tagln3 (MGI:1926784)
chr3	112086389	112136381	3q13.2	3q13.2	611956	C3orf52, TTMP, HYPT15	Chromosome 3 open reading frame 52	C3orf52	79669	ENSG00000114529		Hypotrichosis 15, 620177 (3), Autosomal recessive	BC016579 (MGI:2384848)
chr3	112120839	112133248	3q13	3q13.2	607792	GCET2, HGAL	Germinal center-expressed transcript 2	GCSAM	257144	ENSG00000174500			Gcsam (MGI:102969)
chr3	112140898	112294216	3q13.2	3q13.2	612738	SLC9A10	Solute carrier family 9, member 10	SLC9C1	285335	ENSG00000172139			Slc9c1 (MGI:2685456)
chr3	112332573	112362812	3q12-q13	3q13.2	155970	MOX2	MRC OX-2 antigen	CD200	4345	ENSG00000091972			Cd200 (MGI:1196990)
chr3	112463966	112499624	3q13.2	3q13.2	607925	BTLA	B- and T-lymphocyte attenuator	BTLA	151888	ENSG00000186265			Btla (MGI:2658978)
chr3	112532510	112561962	3q13.2	3q13.2	609606	ATG3, APG3	Autophagy-related 3	ATG3	64422	ENSG00000144848			Atg3 (MGI:1915091)
chr3	112561320	112585579	3q13.13	3q13.2	620298	SLC35A5	Solute carrier family 35, member A5	SLC35A5	55032	ENSG00000138459			Slc35a5 (MGI:1921352)
chr3	112596797	112641143	3q13.2	3q13.2	608298	CCDS80, URB, SSG1	Coiled-coil domain-containing protein 80	CCDC80	151887	ENSG00000091986			Ccdc80 (MGI:1915146)
chr3	112921205	112975103	3q13.1	3q13.2	607546	CD200R1, MOX2R, OX2R	CD200 receptor 1	CD200R1	131450	ENSG00000163606			Cd200r1,Cd200r1l,Cd200r2,Cd200r3,Cd200r4 (MGI:1889024,MGI:1921853,MGI:2442797,MGI:3036289,MGI:3042847)
chr3	113002444	113019671	3q13.2	3q13.2	617089	NEPRO, C3orf17, ANXD3	Nucleolus and neural progenitor protein	NEPRO	25871	ENSG00000163608		Anauxetic dysplasia 3, 618853 (3), Autosomal recessive	Nepro (MGI:2384836)
chr3	113210926	113287459	3q13.2	3q13.2	608708	BOC	Brother of CDON	BOC	91653	ENSG00000144857			Boc (MGI:2151153)
chr3	113286930	113441514	3q13.2	3q13.2	617559	CFAP44, WDR52, SPGF20	Cilia- and flagella-associated protein 44	CFAP44	55779	ENSG00000206530		Spermatogenic failure 20, 617593 (3), Autosomal recessive	Cfap44 (MGI:1277238)
chr3	113442718	113515156	3q13.2	3q13.2	613447	SPICE1, CCDC52	Spindle- and centriole-associated protein 1	SPICE1	152185	ENSG00000163611			Spice1 (MGI:1196252)
chr3	113532555	113637111	3q13.2	3q13.2	606816	SIDT1	SID1 transmembrane family, member 1	SIDT1	54847	ENSG00000072858			Sidt1 (MGI:2443155)
chr3	113648385	113696642	3q13.2	3q13.2	617568	USF3	Upstream transcription factor family, member 3	USF3	205717	ENSG00000176542			Usf3 (MGI:2685454)
chr3	113700001	117600000	3q13.31		615433	DEL3q13.31, C13DELq13.31	Chromosome 3q13.31 deletion syndrome					Chromosome 3q13.31 deletion syndrome, 615433 (4), Autosomal dominant	
chr3	113716458	113746249	3q13.2	3q13.31	610834	NAA50, NAT13, NAT5, SAN	N-alpha-acetyltransferase 50, NatE catalytic subunit	NAA50	80218	ENSG00000121579			Naa50 (MGI:1919367)
chr3	113747035	113812056	3p13	3q13.31	607027	ATP6V1A, HO68, ARCL2D, DEE93	ATPase, H+ transporting, V1 subunit A	ATP6V1A	523	ENSG00000114573		Cutis laxa, autosomal recessive, type IID, 617403 (3), Autosomal recessive; Developmental and epileptic encephalopathy 93, 618012 (3), Autosomal dominant	Atp6v1a (MGI:1201780)
chr3	113828192	113947174	3q13.31	3q13.31	620180	GRAMD1C	GRAM domain-containing protein 1C	GRAMD1C	54762	ENSG00000178075			Gramd1c (MGI:2443024)
chr3	113947901	113979508	3q13.31	3q13.31	617334	ZDHHC23, NIDD	Zinc finger DHHC-type containing 23	ZDHHC23	254887	ENSG00000184307			Zdhhc23 (MGI:2685625)
chr3	114127580	114199407	3q13.3	3q13.31	126451	DRD3, ETM1, FET1	Dopamine receptor D3	DRD3	1814	ENSG00000151577		{Essential tremor, hereditary, 1}, 190300 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant	Drd3 (MGI:94925)
chr3	114234631	114237578	3p12-qter	3q13.31	194553	ZNF80	Zinc finger protein-80 (pT17)	ZNF80	7634	ENSG00000174255			
chr3	114294028	114310288	3q13.3	3q13.31	612859	TIGIT	T-cell immunoreceptor with immunoglobulin and ITIM domains	TIGIT	201633	ENSG00000181847			Tigit (MGI:3642260)
chr3	114314500	115147288	3q13.2	3q13.31	606025	ZBTB20, ZNF288, DPZF, PRIMS	Zinc finger and BTB-domain containing 20	ZBTB20	26137	ENSG00000181722		Primrose syndrome, 259050 (3), Autosomal dominant	Zbtb20 (MGI:1929213)
chr3	115623510	115721483	3q13	3q13.31	162060	GAP43	Neuron growth-associated protein 43	GAP43	2596	ENSG00000172020			Gap43 (MGI:95639)
chr3	115802374	116445487	3q13.2-q21	3q13.31	603241	LSAMP, LAMP	Limbic system-associated membrane protein	LSAMP	4045	ENSG00000185565			Lsamp (MGI:1261760)
chr3	116709779	116717036	3q13.31	3q13.31	616057	TUSC7, LSAMPAS3, LOC285194	Tumor suppressor candidate 7, noncoding	TUSC7	285194	ENSG00000243197			
chr3	118900557	119146020	3q13.32	3q13.32	608351	IGSF11, BTIGSF, VSIG3	Immunoglobulin superfamily, member 11	IGSF11	152404	ENSG00000144847			Igsf11 (MGI:2388477)
chr3	119173598	119205143	3q13.3-q21	3q13.32	602380	UPK1B	Uroplakin 1B	UPK1B	7348	ENSG00000114638			Upk1b (MGI:98912)
chr3	119211742	119240878	3q13.3	3q13.32	604015	B4GALT4	Beta-1,4-galactosyltransferase 4	B4GALT4	8702	ENSG00000121578			B4galt4 (MGI:1928387)
chr3	119294383	119420714	3q13.3	3q13.32-q13.33	610911	ARHGAP31, CDGAP, KIAA1204, AOS1	Rho GTPase-activating protein 31	ARHGAP31	57514	ENSG00000031081		Adams-Oliver syndrome 1, 100300 (3), Autosomal dominant	Arhgap31 (MGI:1333857)
chr3	119468963	119494708	3q13.33	3q13.33	615618	POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4, LGMDR21	Protein O-glucosyltransferase 1	POGLUT1	56983	ENSG00000163389		Dowling-Degos disease 4, 615696 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3), Autosomal recessive	Poglut1 (MGI:2444232)
chr3	119498547	119525090	3q13.33	3q13.33	615534	TIMMDC1, C3orf1, MC1DN31	Translocase of inner mitochondrial membrane domain-containing protein 1	TIMMDC1	51300	ENSG00000113845		Mitochondrial complex I deficiency, nuclear type 31, 618251 (3), Autosomal recessive	Timmdc1 (MGI:1922139)
chr3	119524293	119559614	3q21	3q13.33	112203	CD80, CD28LG, LAB7	CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)	CD80	941	ENSG00000121594			Cd80 (MGI:101775)
chr3	119579492	119589945	3q13.33	3q13.33	603081	ADPRH	ADP-ribosylarginine hydrolase	ADPRH	141	ENSG00000144843			Adprh (MGI:1098234)
chr3	119597885	119629811	3q13.2-q13.3	3q13.33	607460	PLA1A, PSPLA1	Phosphatidylserine-specific phospholipase A1-alpha	PLA1A	51365	ENSG00000144837			Pla1a (MGI:1934677)
chr3	119642056	119660883	3q13.3	3q13.33	605823	POPDC2, POP2	Popeye domain-containing protein 2	POPDC2	64091	ENSG00000121577			Popdc2 (MGI:1930150)
chr3	119663975	119677406	3q	3q13.33	604813	COX17	Cytochrome c oxidase assembly protein COX17	COX17	10063	ENSG00000138495	pseudogene on chr. 13?		Cox17 (MGI:1333806)
chr3	119703022	119767102	3q13.33	3q13.33	609910	CFAP91, MAATS1, AAT1, C3orf15, SPGF51	Cilia- and flagella-associated protein 91	CFAP91	89876	ENSG00000183833		Spermatogenic failure 51, 619177 (3), Autosomal recessive	Cfap91 (MGI:2443598)
chr3	119782101	119818487	3q13-q21	3q13.33	603065	NR1I2, PXR, SXR, PARq	Nuclear receptor subfamily 1, group I, member 2	NR1I2	8856	ENSG00000144852			Nr1i2 (MGI:1337040)
chr3	119821321	120094447	3q13.3	3q13.33	605004	GSK3B	Glycogen synthase kinase 3-beta	GSK3B	2932	ENSG00000082701			Gsk3b (MGI:1861437)
chr3	120165478	120285222	3q13.33	3q13.33	610464	GPR156, GABABL, DFNB121	G protein-coupled receptor 156	GPR156	165829	ENSG00000175697		Deafness, autosomal recessive 121, 620551 (3), Autosomal recessive	Gpr156 (MGI:2653880)
chr3	120392293	120450992	3q13.3	3q13.33	605547	FSTL1, FRP, MIR198	Follistatin-like 1	FSTL1	11167	ENSG00000163430	FSTL1 mRNA can encode a protein or produce an micoRNA		Fstl1 (MGI:102793)
chr3	120596336	120602507	3q13.33	3q13.33	603840	NDUFB4	NADH-ubiquinone oxidoreductase subunit B4	NDUFB4	4710	ENSG00000065518			Ndufb4,Ndufb4b,Ndufb4c (MGI:1915444,MGI:3781422,MGI:3782046)
chr3	120628172	120682239	3q13.33	3q13.33	607474	HGD, AKU	Homogentisate 1,2-dioxygenase (homogentisate oxidase)	HGD	3081	ENSG00000113924		Alkaptonuria, 203500 (3), Autosomal recessive	Hgd (MGI:96078)
chr3	120684938	120742680	3q13.3	3q13.33	618542	RABL3, PNCA5	RAB, member of RAS oncogene family-like 3	RABL3	285282	ENSG00000144840	mutation identified in 1 PNCA5 family	{?Pancreatic cancer, susceptibility to, 5}, 618680 (3), Autosomal dominant	Rabl3 (MGI:1914907)
chr3	120742744	120783069	3q13.33	3q13.33	189962	GTF2E1, TF2E1	General transcription factor IIE, polypeptide 1	GTF2E1	2960	ENSG00000153767			Gtf2e1 (MGI:1921447)
chr3	120908205	121424761	3q13.3	3q13.33	609381	STXBP5L, LLGL4	Syntaxin-binding protein 5-like	STXBP5L	9515	ENSG00000145087			Stxbp5l (MGI:2443815)
chr3	121431431	121545988	3q13.3	3q13.33	604419	POLQ	Polymerase, DNA, theta	POLQ	10721	ENSG00000051341			Polq (MGI:2155399)
chr3	121567949	121590622	3q13.3	3q13.33	611164	ARGFX	Arginine-fifty homeobox	ARGFX	503582	ENSG00000186103	pseudogenes on 5q23.2 and 17q11.2		
chr3	121593379	121630295	3q21.1	3q13.33	609107	FBXO40, FBX40, KIAA1195	F-box only protein 40	FBXO40	51725	ENSG00000163833			Fbxo40 (MGI:2443753)
chr3	121631399	121660903	3q13	3q13.33	601306	HCLS1	Hematopoietic cell-specific Lyn substrate 1	HCLS1	3059	ENSG00000180353			Hcls1 (MGI:104568)
chr3	121663201	121749966	3q13	3q13.33	602500	GOLGB1, GCP372	Golgin B1	GOLGB1	2804	ENSG00000173230			Golgb1 (MGI:1099447)
chr3	121769761	121835060	3q13.33	3q13.33	609237	IQCB1, NPHP5, KIAA0036	IQ motif-containing protein B1	IQCB1	9657	ENSG00000173226		Senior-Loken syndrome 5, 609254 (3), Autosomal recessive	Iqcb1 (MGI:2443764)
chr3	121835209	121886526	3q13.33	3q13.33	607659	EAF2	ELL-associated factor 2	EAF2	55840	ENSG00000145088			Eaf2 (MGI:2146616)
chr3	121894401	121944188	3q13.33	3q13.33	602339	SLC15A2, PEPT2	Solute carrier family 15 (H+/peptide transporter), member 2	SLC15A2	6565	ENSG00000163406			Slc15a2 (MGI:1890457)
chr3	121987323	122061655	3q21.1	3q13.33	609739	ILDR1, DFNB42	Immunoglobulin-like domain-containing receptor 1	ILDR1	286676	ENSG00000145103		Deafness, autosomal recessive 42, 609646 (3), Autosomal recessive	Ildr1 (MGI:2146574)
chr3	122055362	122121136	3q21	3q13.33	601020	CD86, CD28LG2, LAB72	CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	CD86	942	ENSG00000114013			Cd86 (MGI:101773)
chr3	122183668	122291629	3q21.1	3q13.33-q21.1	601199	CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1	Calcium-sensing receptor	CASR	846	ENSG00000036828	mutation identified in 1 EIG8 family	Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3), Autosomal dominant; Hyperparathyroidism, neonatal, 239200 (3), Autosomal recessive, Autosomal dominant; Hypocalcemia, autosomal dominant, 601198 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type I, 145980 (3), Autosomal dominant; {?Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3), Autosomal dominant	Casr (MGI:1351351)
chr3	122200001	129500000	3q21		603165	ATOD1	Dermatitis, atopic, 1		64069		max lod at D3S3606	{Dermatitis, atopic, susceptibility to, 1}, 603165 (2), Autosomal dominant	
chr3	122200001	155300000	3q21-q25.2		614011	ERVK-4, HERV-KI	Endogenous retrovirus group K, member 4		60359				
chr3	122200001	129500000	3q21		613460	FGQTL6, BWQTL3	Fasting plasma glucose level QTL 6; Birth weight QTL 3		100499168		associated with rs11708067 and rs11708067	[Birth weight QTL 3], 613460 (2); [Fasting plasma glucose level QTL 6], 613460 (2)	
chr3	122200001	149200000	3q21-q24		601682	GLC1C	Glaucoma 1, open angle, C		2723			Glaucoma 1C, primary open angle, 601682 (2), Autosomal dominant	
chr3	122200001	139000000	3q21-q22		601471	HCFP1, MBS2	Facial paresis, hereditary congenital, 1		7880			Facial paresis, hereditary congenital, 1, 601471 (2), Autosomal dominant	
chr3	122200001	129500000	3q21		604316	PSORS5	Psoriasis susceptibility 5		63870			{Psoriasis susceptibility 5}, 604316 (2)	
chr3	122325248	122341969	3q21	3q21.1	184600	CSTA, STFA, STF1, AREI, PSS4	Cystatin A (stefin A)	CSTA	1475	ENSG00000121552		Peeling skin syndrome 4, 607936 (3), Autosomal recessive	Csta1,Csta2,Csta3,Cstdc3,Cstdc4,Cstdc5,Cstdc6,Stfa1,Stfa2,Stfa2l1,Stfa3 (MGI:106196,MGI:106197,MGI:106198,MGI:1924020,MGI:3524930,MGI:3524944,MGI:3644688,MGI:3645124,MGI:3648404,MGI:3696881,MGI:3696883)
chr3	122359591	122383231	3q21.1	3q21.1	620713	MIX23	Mitochondrial matrix import factor 23	MIX23	131076	ENSG00000160124			Mix23 (MGI:2146423)
chr3	122384182	122412334	3q21.1	3q21.1	608017	FAM162A, ,C3orf28, E2IG5	Family with sequence similarity 162, member A	FAM162A	26355	ENSG00000114023			Fam162a (MGI:1917436)
chr3	122421902	122514939	3q21	3q21.1	600686	KPNA1, RCH2, SRP1	Karyopherin, alpha-1	KPNA1	3836	ENSG00000114030			Kpna1 (MGI:103560)
chr3	122527924	122564784	3q21	3q21.1	612065	PARP9, BAL1, BAL	Poly(ADP-ribose) polymerase 9	PARP9	83666	ENSG00000138496			Parp9 (MGI:1933117)
chr3	122564338	122575203	3q21	3q21.1	613143	DTX3L, BBAP	Deltex E3 ubiquitin liase 3L	DTX3L	151636	ENSG00000163840	head-to-head with PARP9		Dtx3l (MGI:2656973)
chr3	122577650	122639047	3q21	3q21.1	612066	PARP15, BAL3	Poly(ADP-ribose) polymerase 15	PARP15	165631	ENSG00000173200			
chr3	122680839	122730840	3q21.1	3q21.1	610028	PARP14, KIAA1268	Poly(ADP-ribose) polymerase 14	PARP14	54625	ENSG00000173193			Parp14 (MGI:1919489)
chr3	122739999	122793831	3q21.1	3q21.1	608263	HSPBAP1, PASS1	Heat-shock 27kD protein-associated protein 1	HSPBAP1	79663	ENSG00000169087			Hspbap1 (MGI:1913917)
chr3	122795069	122881139	3q21.1	3q21.1	602773	SLC49A4, DIRC2, RCC4	Solute carrier family 48, member 4	SLC49A4	84925	ENSG00000138463	t(2;3)(q35;q21) in renal cell carcinoma		Slc49a4 (MGI:2387188)
chr3	122909082	123028605	3q21.1	3q21.1	609298	SEMA5B, SEMG, KIAA1445	Semaphorin 5B	SEMA5B	54437	ENSG00000082684			Sema5b (MGI:107555)
chr3	123067025	123162104	3q21.1	3q21.1	616942	PDIA5, PDIR	Protein disulfide isomerase, family A, member 5	PDIA5	10954	ENSG00000065485			Pdia5 (MGI:1919849)
chr3	123201943	123274136	3q21.1	3q21.1	612442	SEC22A, SEC22L2	SEC22 homolog A, vesicle trafficking protein	SEC22A	26984	ENSG00000121542			Sec22a (MGI:2447876)
chr3	123282296	123449090	3q13.2-q21	3q21.1	600293	ADCY5, FDFM, DSKOD	Adenylate cyclase-5	ADCY5	111	ENSG00000173175		Dyskinesia with orofacial involvement, autosomal dominant, 606703 (3), Autosomal dominant; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, 619651 (3), Autosomal recessive; Dyskinesia with orofacial involvement, autosomal recessive, 619647 (3), Autosomal recessive	Adcy5 (MGI:99673)
chr3	123491554	123585053	3q21.1	3q21.1	615939	PTPLB, HACD2	Protein tyrosine phosphatase-like (proline instead of catalytic arginine), member B	HACD2	201562	ENSG00000206527			Hacd2 (MGI:1918007)
chr3	123610049	123884332	3q21	3q21.1	600922	MYLK, MLCK, AAT7, MMIHS1	Myosin-light-polypeptide kinase	MYLK	4638	ENSG00000065534	pseudogene on 3p13	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, 249210 (3), Autosomal recessive; Aortic aneurysm, familial thoracic 7, 613780 (3), Autosomal dominant	Mylk (MGI:894806)
chr3	123885176	123961229	3q21.1	3q21.1	617147	CCDC14	Coiled-coil domain-containing protein 14	CCDC14	64770	ENSG00000175455			Ccdc14 (MGI:2443448)
chr3	123969015	123992124	3q21.1	3q21.1	611757	ROPN1, ODF6	Rhophilin-associated tail protein 1	ROPN1	54763	ENSG00000065371			Ropn1 (MGI:1923628)
chr3	124033369	124726325	3q13	3q21.1-q21.2	604605	KALRN, HAPIP, DUO	Kalirin	KALRN	8997	ENSG00000160145			Kalrn (MGI:2685385)
chr3	124730452	124749273	3q13	3q21.2	613891	UMPS, OPRT	Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)	UMPS	7372	ENSG00000114491		Orotic aciduria, 258900 (3), Autosomal recessive	Umps (MGI:1298388)
chr3	124761948	124901418	3q21.2	3q21.2	147561	ITGB5	Integrin, beta-5	ITGB5	3693	ENSG00000082781			Itgb5 (MGI:96614)
chr3	124905442	124934751	3q13.3	3q21.2	612181	MUC13	Mucin 13, cell surface-associated	MUC13	56667	ENSG00000173702			Muc13 (MGI:103190)
chr3	124965710	125055997	3q21.2	3q21.2	614182	HEG1, KIAA1237	Heart development protein with EGF-like domains 1	HEG1	57493	ENSG00000173706			Heg1 (MGI:1924696)
chr3	125082644	125212748	3q21.2	3q21.2	611316	SLC12A8	Solute carrier family 12 (sodium/potassium/chloride transporter), member 8	SLC12A8	84561	ENSG00000221955			Slc12a8 (MGI:2443672)
chr3	125225669	125375354	3q21	3q21.2	601897	ZNF148, ZFP148, GDACCF	Zinc finger protein-148	ZNF148	7707	ENSG00000163848		Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3), Autosomal dominant	Zfp148 (MGI:1332234)
chr3	125446650	125520202	3q21.2	3q21.2	605931	SNX4	Sorting nexin 4	SNX4	8723	ENSG00000114520			Snx4 (MGI:1916400)
chr3	125528858	125595497	3q21.1	3q21.2	606739	OSBPL11, ORP11	Oxysterol-binding protein-like protein 11	OSBPL11	114885	ENSG00000144909	previously assigned to chr.8		Osbpl11 (MGI:2146553)
chr3	126006357	126101520	3q21.2	3q21.2-q21.3	610803	SLC41A3	Solute carrier family 41, member 3	SLC41A3	54946	ENSG00000114544			Slc41a3 (MGI:1918949)
chr3	126103570	126197945	3q21.3	3q21.3	600249	ALDH1L1, FTHFD	Aldehyde dehydrogenase 1 family, member L1	ALDH1L1	10840	ENSG00000144908			Aldh1l1 (MGI:1340024)
chr3	126288125	126357408	3q21-q22	3q21.3	606465	KLF15, KKLF	Kruppel-like factor 15	KLF15	28999	ENSG00000163884			Klf15 (MGI:1929988)
chr3	126437601	126475891	3q21.3	3q21.3	615746	ZXDC	ZCD family zinc finger protein C	ZXDC	79364	ENSG00000070476			Zxdc (MGI:1933108)
chr3	126481166	126517773	3q21.3	3q21.3	613012	UROC1, UROCD	Urocanase domain-containing protein 1	UROC1	131669	ENSG00000159650	mutation identified in 1 UROCD patient	?Urocanase deficiency, 276880 (3), Autosomal recessive	Uroc1 (MGI:2385332)
chr3	126524155	126543291	3q21.3	3q21.3	610124	CHST13, C4ST3	Carbohydrate sulfotransferase 13	CHST13	166012	ENSG00000180767			Chst13 (MGI:1919047)
chr3	126607050	126655124	3q21	3q21.3	606235	TXNRD3, TRXR3, TR2	Thioredoxin reductase 3	TXNRD3	114112	ENSG00000197763			Txnrd3 (MGI:2386711)
chr3	126704240	126960420	3q21.3	3q21.3	615634	CHCHD6, CHCM1	Coiled-coil-helix-coiled-coil-helix domain-containing protein 6	CHCHD6	84303	ENSG00000159685			Chchd6 (MGI:1913348)
chr3	126983115	127037389	3q21-qter	3q21.3	601055	PLXNA1, NOVP, NOV, PLXN1, DWOPNED	Plexin A1 (NOV transmembrane protein)	PLXNA1	5361	ENSG00000114554		Dworschak-Punetha neurodevelopmental syndrome, 619955 (3), Autosomal recessive	Plxna1 (MGI:107685)
chr3	127571232	127598231	3q21.3	3q21.3	608336	TPRA1, TPRA40, GPR175	Transmembrane protein, adipocyte associated 1	TPRA1	131601	ENSG00000163870			Tpra1 (MGI:1345190)
chr3	127598411	127622436	3q21	3q21.3	116945	MCM2, CDCL1, DFNA70	Minichromosome maintenance complex component 2 (mitotin)	MCM2	4171	ENSG00000073111	mutation identified in 1 DFNA70 family	?Deafness, autosomal dominant 70, 616968 (3), Autosomal dominant	Mcm2 (MGI:105380)
chr3	127629185	127672802	3q21.3	3q21.3	616627	PODXL2, EG	Podocalyxin-like 2	PODXL2	50512	ENSG00000114631			Podxl2 (MGI:2442488)
chr3	127672952	127680926	3q21	3q21.3	608308	ABTB1, BPOZ	Ankyrin repeat and BTB/POZ domain containing 1	ABTB1	80325	ENSG00000114626			Abtb1 (MGI:1933148)
chr3	127689066	127823185	3p21.3	3q21.3	609699	MGLL, MGL, HUK5	Monoglyceride lipase	MGLL	11343	ENSG00000074416			Mgll (MGI:1346042)
chr3	128051641	128071683	3q21.3	3q21.3	609213	SEC61A1, SEC61, ADTKD5, CVID15	SEC61 translocon, alpha-1 subunit	SEC61A1	29927	ENSG00000058262	mutation identified in 1 SCN11 patient	Immunodeficiency, common variable, 15, 620670 (3), Autosomal dominant; ?Neutropenia, severe congenital, 11, autosomal dominant, 620674 (3), Autosomal dominant; Tubulointerstitial kidney disease, autosomal dominant, 5, 617056 (3), Autosomal dominant	Sec61a1 (MGI:1858417)
chr3	128064785	128153914	3q21	3q21.3	603449	RUVBL1, NMP238, TIP49	RuvB-like AAA ATPase 1	RUVBL1	8607	ENSG00000175792			Ruvbl1 (MGI:1928760)
chr3	128153481	128426223	3q21.3	3q21.3	607695	EEFSEC, SELB, EFSEC, NEDPSB	Eukaryotic elongation factor, selenocysteine-tRNA-specific	EEFSEC	60678	ENSG00000132394		Neurodevelopmental disorder with progressive spasticity and brain abnormalities, 621102 (3), Autosomal recessive	Eefsec (MGI:2137092)
chr3	128462437	128466890	3q21.3	3q21.3	611337	DNAJB8, DJ6	DNAJ/HSP40 homolog, subfamily B, member 8	DNAJB8	165721	ENSG00000179407			Dnajb8 (MGI:1922801)
chr3	128479422	128493201	3q21	3q21.3	137295	GATA2, DCML, MONOMAC, IMD21	GATA-binding protein-2	GATA2	2624	ENSG00000179348		{Leukemia, acute myeloid, susceptibility to}, 601626 (3), Somatic mutation, Autosomal dominant; Emberger syndrome, 614038 (3), Autosomal dominant; Immunodeficiency 21, 614172 (3), Autosomal dominant; {Myelodysplastic syndrome, susceptibility to}, 614286 (3)	Gata2 (MGI:95662)
chr3	128572000	128576086	3q21	3q21.3	618259	LINC01565	Long intergenic noncoding RNA 1565	LINC01565	23434	ENSG00000198685			
chr3	128619969	128650818	3q	3q21.3	180470	RPN1	Ribophorin I	RPN1	6184	ENSG00000163902			Rpn1 (MGI:98084)
chr3	128726183	128814798	3q21	3q21.3	602298	RAB7, CMT2B, PSN	Ras-associated protein RAB7	RAB7A	7879	ENSG00000075785		Charcot-Marie-Tooth disease, type 2B, 600882 (3), Autosomal dominant	Rab7 (MGI:105068)
chr3	128879620	128913114	3q26	3q21.3	611103	ACAD9, MC1DN20	Acyl-CoA dehydrogenase family, member 9	ACAD9	28976	ENSG00000177646		Mitochondrial complex I deficiency, nuclear type 20, 611126 (3), Autosomal recessive	Acad9 (MGI:1914272)
chr3	129054845	129062406	3q21	3q21.3	173515	GP9	Glycoprotein IX, platelet	GP9	2815	ENSG00000169704		Bernard-Soulier syndrome, type C, 231200 (3), Autosomal recessive	Gp9 (MGI:1860137)
chr3	129127415	129161063	3q21.3	3q21.3	612764	ISY1, KIAA1160	ISY1 splicing factor homolog	ISY1	57461	ENSG00000240682			Isy1 (MGI:1923310)
chr3	129167827	129183896	3q21.3	3q21.3	116955	CNBP, ZNF9, CNBP1, DM2, PROMM	CCHC-type zinc finger nucleic acid-binding protein	CNBP	7555	ENSG00000169714		Myotonic dystrophy 2, 602668 (3), Autosomal dominant	Cnbp (MGI:88431)
chr3	129249606	129277773	3q21.3	3q21.3	615525	COPG1, IMD128	Coatomer protein complex, subunit gamma-1	COPG1	22820	ENSG00000181789	mutation identified in 1 IMD128 family	?Immunodeficiency 128, 620983 (3), Autosomal recessive	Copg1 (MGI:1858696)
chr3	129278832	129306186	3q21.3	3q21.3	618288	HMCES	5-hydroxymethylcytosine-binding protein, embryonic stem cell-specific	HMCES	56941	ENSG00000183624			Hmces (MGI:1914053)
chr3	129314771	129316286	3q21.3	3q21.3	602785	H1-10, H1FX, H1X	H1.10 linker histone	H1-10	8971	ENSG00000184897			H1f10 (MGI:2685307)
chr3	129430947	129439948	3q21-q22	3q21.3	603574	MBD4, MED1, TPDS2	Methyl-CpG-binding domain protein 4	MBD4	8930	ENSG00000129071		{Uveal melanoma, susceptibility to, 1}, 606660 (3), Autosomal dominant; Tumor predisposition syndrome 2, 619975 (3), Autosomal recessive	Mbd4 (MGI:1333850)
chr3	129440224	129520507	3q21	3q21.3-q22.1	606045	IFT122, WDR10, CED1	Intraflagellar transport 122	IFT122	55764	ENSG00000163913		Cranioectodermal dysplasia 1, 218330 (3), Autosomal recessive	Ift122 (MGI:1932386)
chr3	129500001	149200000	3q22-q24		604154	AD15	Alzheimer disease 15		100188838		max lod at D3S1579	{Alzheimer disease-15}, 604154 (2)	
chr3	129500001	139000000	3q22		606012	DFNA18	Deafness, autosomal dominant 18		85507			Deafness, autosomal dominant 18, 606012 (2), Autosomal dominant	
chr3	129500001	149200000	3q22-q24		220200	DWS, C3DELq22q24, DEL3q22q24	Dandy-Walker syndrome		1858		ZIC1 and ZIC4 good candidate genes	Dandy-Walker syndrome, 220200 (4), Isolated cases	
chr3	129500001	149200000	3q22-q24		608787	OTSC5	Otosclerosis 5		317682		max lod at D3S1569	Otosclerosis 5, 608787 (2), Autosomal dominant	
chr3	129500001	139000000	3q22		616361	PARK21	Parkinson disease 21		108353827		conflicting mapping on 20pter-p12	Parkinson disease 21, 616361 (2), Autosomal dominant	
chr3	129500001	139000000	3q22		606995	SLSN3	Senior-Loken syndrome 3		260432		?allelic with NPHP3	Senior-Loken syndrome 3, 606995 (2), Autosomal recessive	
chr3	129528639	129535344	3q21-q24	3q22.1	180380	RHO, RP4, OPN2, CSNBAD1	Rhodopsin (opsin 2)	RHO	6010	ENSG00000163914		Night blindness, congenital stationary, autosomal dominant 1, 610445 (3), Autosomal dominant; Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3), Autosomal recessive, Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant	Rho (MGI:97914)
chr3	129555214	129606676	3q22	3q22.1	604282	PLXND1, CHTD9	Plexin D1	PLXND1	23129	ENSG00000004399		Congenital heart defects, multiple types, 9, 620294 (3), Autosomal recessive	Plxnd1 (MGI:2154244)
chr3	129647792	129893711	3q22.1	3q22.1	616242	TMCC1, KIAA0779	Transmembrane and coiled-coil domain family 1	TMCC1	23023	ENSG00000172765			Tmcc1 (MGI:2442368)
chr3	129974720	129977935	3q13.3-q21	3q22.1	613879	TRH	Thyrotropin-releasing hormone	TRH	7200	ENSG00000170893		Thyrotropin-releasing hormone deficiency, 275120 (1), Autosomal recessive	Trh (MGI:98823)
chr3	130212820	130273806	3q21	3q22.1	616612	COL6A4P2	Collagen, type VI, alpha-4, pseudogene 2	COL6A4P2	646300				Col6a4 (MGI:1915803)
chr3	130345672	130484846	3q21	3q22.1	611916	COL6A5, COL29A1	Collagen, type VI, alpha-5	COL6A5	256076	ENSG00000172752			Col6a5 (MGI:3648134)
chr3	130516720	130677042	3q21	3q22.1	616613	COL6A6	Collagen, type VI, alpha-6	COL6A6	131873	ENSG00000206384			Col6a6 (MGI:2444259)
chr3	130678934	130746829	3q22.1	3q22.1	602610	PIK3R4	Phosphatidylinositol 3-kinase, regulatory subunit 4	PIK3R4	30849	ENSG00000196455			Pik3r4 (MGI:1922919)
chr3	130850595	131016712	3q21-q24	3q22.1	604384	ATP2C1, BCPM, HHD	ATPase, Ca(2+)-sequestering	ATP2C1	27032	ENSG00000017260		Hailey-Hailey disease, 169600 (3), Autosomal dominant	Atp2c1 (MGI:1889008)
chr3	131013875	131026825	3q22.1	3q22.1	620693	ASTE1	Asteroid homolog 1	ASTE1	28990	ENSG00000034533			Aste1 (MGI:1913845)
chr3	131026877	131350465	3q21-q22	3q22.1	609779	NEK11	NIMA-related kinase 11	NEK11	79858	ENSG00000114670			Nek11 (MGI:2442276)
chr3	131381671	131388830	3q22.1	3q22.1	617381	NUDT16	Nudix hydrolase 16	NUDT16	131870	ENSG00000198585			Nudt16 (MGI:1922936)
chr3	131462212	131502971	3q22.1	3q22.1	607118	MRPL3, MRL3, COXPD9	Mitochondrial ribosomal protein L3	MRPL3	11222	ENSG00000114686		Combined oxidative phosphorylation deficiency 9, 614582 (3), Autosomal recessive	Mrpl3 (MGI:2137204)
chr3	131533569	132039606	3q22.1	3q22.1	604208	CPNE4, CPN4	Copine IV	CPNE4	131034	ENSG00000196353			Cpne4 (MGI:1921270)
chr3	132317407	132368302	3q21-q23	3q22.1	171790	ACPP	Acid phosphatase, prostate	ACP3	55	ENSG00000014257			Acp3 (MGI:1928480)
chr3	132417502	132539032	3q22.1	3q22.1	614334	DNAJC13, RME8, KIAA0678	DNAJ/HSP40 homolog, subfamily C, member 13	DNAJC13	23317	ENSG00000138246			Dnajc13 (MGI:2676368)
chr3	132558141	132659809	3q22.1	3q22.1	614288	ACAD11	Acyl-CoA dehydrogenase family, member 11	ACAD11	84129	ENSG00000240303			Acad11 (MGI:2143169)
chr3	132597270	132602644	3q22	3q22.1	606065	ACKR4, CCRL1, PPR1	Atypical chemokine receptor 4	ACKR4	51554	ENSG00000129048			Ackr4 (MGI:2181676)
chr3	132654430	132679794	3q22	3q22.1	610552	UBA5, UBE1DC1, DEE44, SCAR24	Ubiquitin-like modifier activating enzyme 5	UBA5	79876	ENSG00000081307	mutation identified in 1 SCAR24 family	?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3), Autosomal recessive; Developmental and epileptic encephalopathy 44, 617132 (3), Autosomal recessive	Uba5 (MGI:1913913)
chr3	132680609	132722409	3q22	3q22.1	608002	NPHP3, NPH3, RHPD1, MKS7	Nephrocystin 3	NPHP3	27031	ENSG00000113971		Nephronophthisis 3, 604387 (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1, 208540 (3), Autosomal recessive; Meckel syndrome 7, 267010 (3), Autosomal recessive	Nphp3 (MGI:1921275)
chr3	133038391	133397775	3q22.1	3q22.1	617361	TMEM108, RTLN, KIAA1690	Transmembrane protein 108	TMEM108	66000	ENSG00000144868			Tmem108 (MGI:1932411)
chr3	133400056	133475208	3q21-q25	3q22.1	603212	BFSP2, CP49, CP47, CTRCT12	Beaded filament structural protein 2 (cytoskeletal protein, 49 kD)	BFSP2	8419	ENSG00000170819		Cataract 12, multiple types, 611597 (3), Autosomal dominant	Bfsp2 (MGI:1333828)
chr3	133573686	133590274	3q22.1	3q22.1	618789	CDV3, H41	CDV3 homolog	CDV3	55573	ENSG00000091527			Cdv3,Cdv3-ps (MGI:2448759,MGI:3646628)
chr3	133600238	133661941	3q22.1	3q22.1	607760	TOPBP1, KIAA0259	DNA topoisomerase II-binding protein 1	TOPBP1	11073	ENSG00000163781			Topbp1 (MGI:1920018)
chr3	133661998	133796641	3q21	3q22.1	190000	TF, TFQTL1	Transferrin	TF	7018	ENSG00000091513		Atransferrinemia, 209300 (3), Autosomal recessive	Trf (MGI:98821)
chr3	133784023	133828574	3q22.1	3q22.1	616883	SRPRB, APMCF1	SRP receptor subunit, beta	SRPRB	58477	ENSG00000144867			Srprb (MGI:102964)
chr3	133824235	133895882	3q22.1	3q22.1	615852	RAB6B	Ras-associated protein RAB6B	RAB6B	51560	ENSG00000154917			Rab6b (MGI:107283)
chr3	133932701	134029925	3q21	3q22.1-q22.2	601460	SLCO2A1, OATP2A1, PGT, SLC21A2, PHOAR2, PHOAD	Solute carrier organic anion transporter family, member 2A1	SLCO2A1	6578	ENSG00000174640		Hypertrophic osteoarthropathy, primary, autosomal dominant, 167100 (3), Autosomal dominant; PHOAR2-enteropathy syndrome, 614441 (3), Autosomal recessive	Slco2a1 (MGI:1346021)
chr3	134157133	134250859	3q22.2	3q22.2	600524	RYK, RYK1	RYK receptor-like tyrosine kinase	RYK	6259	ENSG00000163785			Ryk (MGI:101766)
chr3	134355345	134375417	3q22.2	3q22.2	614658	AMOTL2, KIAA0989	Angiomotin-like 2	AMOTL2	51421	ENSG00000114019			Amotl2 (MGI:1929286)
chr3	134477704	134486023	3q22.2	3q22.2	614484	ANAPC13, APC13, SWM1	Anaphase-promoting complex, subunit 13	ANAPC13	25847	ENSG00000129055			Anapc13 (MGI:1916260)
chr3	134485724	134782559	3q22.2	3q22.2	614724	CEP63, SCKL6	Centrosomal protein, 63kD	CEP63	80254	ENSG00000182923	mutation identified in 1 family	?Seckel syndrome 6, 614728 (3), Autosomal recessive	Cep63 (MGI:2158560)
chr3	134599923	134651022	3q22.2	3q22.2	605739	KY, MFM7	Kyphoscoliosis peptidase	KY	339855	ENSG00000174611		Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive	Ky (MGI:96709)
chr3	134795260	135260467	3q21-q23	3q22.2	600600	EPHB1, EPHT2, NET	eph tyrosine kinase 2 (ephrin receptor EphB1)	EPHB1	2047	ENSG00000154928			Ephb1 (MGI:1096337)
chr3	135965728	136147894	3q22	3q22.2-q22.3	604944	PP2R3A, PR72, PR130	Protein phosphatase 2, regulatory subunit B'', alpha	PPP2R3A	5523	ENSG00000073711			Ppp2r3a (MGI:2442104)
chr3	136148917	136196335	3q22.3	3q22.3	614802	MSL2, KIAA1585, KBHS	MSL complex subunit 2	MSL2	55167	ENSG00000174579		Karayol-Borroto-Haghshenas neurodevelopmental syndrome, 620985 (3), Autosomal dominant	Msl2 (MGI:1925103)
chr3	136250340	136330169	3q21-q22	3q22.3	232050	PCCB	Propionyl Coenzyme A carboxylase, beta polypeptide	PCCB	5096	ENSG00000114054	pccB complementation group	Propionicacidemia, 606054 (3), Autosomal recessive	Pccb (MGI:1914154)
chr3	136336236	136752378	3q22.3	3q22.3	604358	STAG1, MRD47	Stromal antigen 1	STAG1	10274	ENSG00000118007		Intellectual developmental disorder, autosomal dominant 47, 617635 (3), Autosomal dominant	Stag1 (MGI:1098658)
chr3	136819126	136855888	3q22.3	3q22.3	617812	SLC35G2, TMEM22	Solute carrier family 35, member G2	SLC35G2	80723	ENSG00000168917			Slc35g2 (MGI:2685365)
chr3	136862208	136951606	3q21	3q22.3	600508	NCK	Non-catalytic region of tyrosine kinase	NCK1	4690	ENSG00000158092			Nck1 (MGI:109601)
chr3	136957983	137011085	3q22.3	3q22.3	605621	IL20RB, DIRS1	Interleukin 20 receptor, beta	IL20RB	53833	ENSG00000174564			Il20rb (MGI:2143266)
chr3	137764315	137766334	3q23	3q22.3	604747	SOX14	SRY-box 14	SOX14	8403	ENSG00000168875			Sox14 (MGI:98362)
chr3	137998816	138033649	3q22.3	3q22.3	609210	CLDN18	Claudin 18	CLDN18	51208	ENSG00000066405			Cldn18 (MGI:1929209)
chr3	138061990	138115608	3q22.3	3q22.3	617570	DZIP1L, DZIP2, PKD5	DAZ-interacting zinc finger protein 1-like	DZIP1L	199221	ENSG00000158163		Polycystic kidney disease 5, 617610 (3), Autosomal recessive	Dzip1l (MGI:1919757)
chr3	138123713	138133302	3p14.3	3q22.3	616709	A4GNT	Alpha-1,4-N-acetylglucosaminyltransferase	A4GNT	51146	ENSG00000118017			A4gnt (MGI:2143261)
chr3	138160988	138174921	3q22.3	3q22.3	607024	DBR1, XGIP	Debranching RNA lariats 1	DBR1	51163	ENSG00000138231		Xerosis and growth failure with immune and pulmonary dysfunction syndrome, 620510 (3), Autosomal recessive; {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, 619441 (3), Autosomal recessive	Dbr1 (MGI:1931520)
chr3	138187248	138298389	3q22.3	3q22.3	618521	ARMC8	Armadillo repeat-containing protein 8	ARMC8	25852	ENSG00000114098			Armc8 (MGI:1921375)
chr3	138261436	138329851	3q22.3	3q22.3	618584	NME9, NXL2, TXNDC6	NME/NM23 family, member 9	NME9	347736	ENSG00000181322			Nme9 (MGI:4359686)
chr3	138347648	138405535	3q22.3	3q22.3	608435	MRAS, RRAS3, NS11	Muscle Ras viral oncogene homolog	MRAS	22808	ENSG00000158186		Noonan syndrome 11, 618499 (3), Autosomal dominant	Mras (MGI:1100856)
chr3	138434616	138481686	3q22.3	3q22.3	616692	ESYT3, FAM62C	Extended synaptotagmin-like protein 3	ESYT3	83850	ENSG00000158220			Esyt3 (MGI:1098699)
chr3	138494344	138594260	3q22.3	3q22.3	614310	CEP70	Centrosomal protein, 70kD	CEP70	80321	ENSG00000114107			Cep70 (MGI:1915371)
chr3	138608771	138633376	3q22	3q22.3	617535	FAIM	Fax apoptotic inhibitory molecule	FAIM	55179	ENSG00000158234			Faim,Faiml (MGI:1344387,MGI:3647754)
chr3	138652698	138834928	3q22.3	3q22.3	602925	PIK3CB, PI3KCB	Phosphatidylinositol 3-kinase, catalytic, beta	PIK3CB	5291	ENSG00000051382			Pik3cb (MGI:1922019)
chr3	138944224	138947137	3q23	3q22.3	605597	FOXL2, BPES, BPES1, PFRK, POF3	Forkhead transcription factor FOXL2	FOXL2	668	ENSG00000183770		Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3), Autosomal recessive, Autosomal dominant; Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3), Autosomal recessive, Autosomal dominant; Premature ovarian failure 3, 608996 (3), Autosomal dominant	Foxl2 (MGI:1349428)
chr3	139000001	143100000	3q23		612221	STQTL10	Stature quantitative trait locus 10		100270794		associated with rs6440003	{Stature QTL 10}, 612221 (2)	
chr3	139104185	139125167	3q23	3q23	618995	BPESC1	Blepharophimosis, ptosis, and epicanthus inversus candidate gene 1	BPESC1	60467	ENSG00000232416			
chr3	139343994	139357140	3q23	3q23	605810	MRPS22, C3orf5, COXPD5, ODG7	Mitochondrial ribosomal protein S22	MRPS22	56945	ENSG00000175110		Ovarian dysgenesis 7, 618117 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 5, 611719 (3), Autosomal recessive	Mrps22 (MGI:1928137)
chr3	139357406	139389680	3q23	3q23	606990	COPB2, MCPH19, OPDD	Coatomer protein complex, subunit beta-2	COPB2	9276	ENSG00000184432	mutation identified in 1 MCPH19 family	Osteoporosis, childhood- or juvenile-onset, with developmental delay, 619884 (3), Autosomal dominant; ?Microcephaly 19, primary, autosomal recessive, 617800 (3), Autosomal recessive	Copb2 (MGI:1354962)
chr3	139452884	139476516	3q21-qter	3q23	180280	RBP2, CRBP2	Retinol-binding protein-2, cellular	RBP2	5948	ENSG00000114113	close to CRBP1		Rbp2 (MGI:97877)
chr3	139517438	139539742	3q21-q22	3q23	180260	RBP1, CRBP1	Retinol-binding protein-1, cellular	RBP1	5947	ENSG00000114115	close to CRBP2		Rbp1 (MGI:97876)
chr3	139560180	139678050	3q23	3q23	608702	NMNAT3, PNAT3	Nicotinamide nucleotide adenylyltransferase 3	NMNAT3	349565	ENSG00000163864			Nmnat3 (MGI:1921330)
chr3	139935185	140577397	3q23	3q23	611323	CLSTN2	Calsyntenin 2	CLSTN2	64084	ENSG00000158258			Clstn2 (MGI:1929897)
chr3	140678064	140701150	3q23	3q23	620334	TRIM42	Tripartite motif-containing protein 42	TRIM42	287015	ENSG00000155890			Trim42 (MGI:1926161)
chr3	140941836	140980995	3q23	3q23	616149	SLC25A36, PNC2, HHF8	Solute carrier family 25 (mitochondrial carrier, pyrimidine nucleotide transporter), member 36	SLC25A36	55186	ENSG00000114120		Hyperinsulinemic hypoglycemia, familial, 8, 620211 (3), Autosomal recessive	Slc25a36 (MGI:1924909)
chr3	141051347	141148611	3q23	3q23	611660	SPSB4, SSB4	SPRY domain- and SOCS box-containing 4	SPSB4	92369	ENSG00000175093			Spsb4 (MGI:2183445)
chr3	141231825	141294924	3q23	3q23	619732	PXYLP1, XYLP, ACPL2	2-phosphoxylose phosphatase 1	PXYLP1	92370	ENSG00000155893			Pxylp1 (MGI:2442444)
chr3	141324186	141449792	3q23	3q23	612218	ZBTB38	Zinc finger- and BTB domain-containing protein 38	ZBTB38	253461	ENSG00000177311			Zbtb38 (MGI:2442866)
chr3	141487027	141615344	3q22-q23	3q23	601589	RASA2, GAP1M	RAS p21 protein activator 2	RASA2	5922	ENSG00000155903			Rasa2 (MGI:2149960)
chr3	141738298	141747560	3q22-q24	3q23	603863	RNF7, ROC2, SAG	RING finger protein-7 (regulator of cullins 2; sensitive to apoptosis gene)	RNF7	9616	ENSG00000114125			Rnf7,Rnf7l (MGI:1337096,MGI:3646561)
chr3	141749984	141819352	3q21-q23	3q23	606987	GRK7, GPRK7	G protein-coupled receptor kinase 7	GRK7	131890	ENSG00000114124			
chr3	141876643	141926549	3q22-q23	3q23	601867	ATP1B3	ATPase, Na+/K+ transporting, beta 3 polypeptide	ATP1B3	483	ENSG00000069849			Atp1b3 (MGI:107788)
chr3	141944428	142149544	3q23	3q23	602160	TFDP2, DP2	Transcription factor Dp-2 (E2F dimerization partner 2)	TFDP2	7029	ENSG00000114126			Tfdp2 (MGI:107167)
chr3	142157527	142225585	3q23	3q23	620801	GK5	Glycerol kinase 5	GK5	256356	ENSG00000175066			Gk5 (MGI:2443336)
chr3	142306610	142448037	3q25-q26.1	3q23	607994	XRN1, SEP1	Exoribonuclease 1	XRN1	54464	ENSG00000114127			Xrn1 (MGI:891964)
chr3	142449235	142578733	3q22-q24	3q23	601215	ATR, FRP1, SCKL1, FCTCS	ATR serine/threonine kinase	ATR	545	ENSG00000175054	mutation identified in 1 FCTCS family	Seckel syndrome 1, 210600 (3), Autosomal recessive; ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3), Autosomal dominant	Atr (MGI:108028)
chr3	142596393	142713664	3q23	3q23	602734	PLS1, DFNA76	Plastin-1	PLS1	5357	ENSG00000120756		Deafness, autosomal dominant 76, 618787 (3), Autosomal dominant	Pls1 (MGI:104809)
chr3	142724034	142807888	3q22-q24	3q23	602343	TRPC1, TRP1	Transient receptor potential channel 1	TRPC1	7220	ENSG00000144935	also called Htrp-1		Trpc1 (MGI:109528)
chr3	142817874	142889083	3q21-q24	3q23	607064	PCOLCE2	Procollagen C-endopeptidase enhancer-2	PCOLCE2	26577	ENSG00000163710			Pcolce2 (MGI:1923727)
chr3	142949164	142964008	3q23	3q23	614580	PAQR9	Progestin and ADIPOQ receptor family, member 9	PAQR9	344838	ENSG00000188582			Paqr9 (MGI:1922802)
chr3	143001570	143060725	3q23	3q23	617849	U2SURP, SR140, KIAA0332	U2 small nuclear ribonucleoprotein-associated SURP domain-containing protein	U2SURP	23350	ENSG00000163714			U2surp (MGI:1915208)
chr3	143100001	183000000	3q24-q26		610761	HDLCQ5	High density lipoprotein cholesterol level QTL 5		100188818		max lod at D3S3053	[High density lipoprotein cholesterol level QTL 5], 610761 (2)	
chr3	143119771	143124014	3q24	3q24	603798	CHST2	Carbohydrate sulfotransferase-2 (GlcNAc-6-O-sulfotransferase; N-acetylglucosamine-6-O-sulfotransferase)	CHST2	9435	ENSG00000175040	mapped by FISH to 7q31		Chst2 (MGI:1891160)
chr3	143265222	143848468	3q24	3q24	608396	SLC9A9, AUTS16	Solute carrier family 9 (sodium/hydrogen exchanger), member A9	SLC9A9	285195	ENSG00000181804	mutation identified in 1 family	{?Autism susceptibility 16}, 613410 (3)	Slc9a9 (MGI:2679732)
chr3	143971798	143992368	3q24	3q24	612200	DIPK2A, C3orf58, DIA1	Divergent protein kinase domain 2A	DIPK2A	205428	ENSG00000181744			Dipk2a (MGI:1916111)
chr3	146069440	146161184	3q23-q24	3q24	601865	PLOD2, LH2, TLH, BRKS2	Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2	PLOD2	5352	ENSG00000152952		Bruck syndrome 2, 609220 (3), Autosomal recessive	Plod2 (MGI:1347007)
chr3	146192335	146251105	3q23	3q24	607612	PLSCR4	Phospholipid scramblase 4	PLSCR4	57088	ENSG00000114698			Plscr4 (MGI:2143267)
chr3	146391420	146495991	3q23	3q24	607610	PLSCR2	Phospholipid scramblase 2	PLSCR2	57047	ENSG00000163746			Plscr2 (MGI:1270860)
chr3	146515180	146544607	3q23	3q24	604170	PLSCR1, MMTRA1B	Phospholipid scramblase 1	PLSCR1	5359	ENSG00000188313			Plscr1,Plscr2 (MGI:1270860,MGI:893575)
chr3	147386046	147406543	3q24	3q24	608948	ZIC4	Zic family, member 4	ZIC4	84107	ENSG00000174963			Zic4 (MGI:107201)
chr3	147409365	147416719	3q24	3q24	600470	ZIC1, CRS6, BAIDCS	Zic family, member 1	ZIC1	7545	ENSG00000152977	mutation identified in 1 CRS6 family	?Craniosynostosis 6, 616602 (3), Autosomal dominant; Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736 (3), Autosomal dominant	Zic1 (MGI:106683)
chr3	148697903	148743003	3q21-q25	3q24	106165	AGTR1, AGTR1A, AT2R1	Angiotensin receptor 1	AGTR1	185	ENSG00000144891		{Hypertension, essential}, 145500 (3), Multifactorial; Renal tubular dysgenesis, 267430 (3), Autosomal recessive	Agtr1a,Agtr1b (MGI:87964,MGI:87965)
chr3	148827811	148860187	3q24	3q24	114852	CPB1, PCPB, PASP	Carboxypeptidase B1, tissue	CPB1	1360	ENSG00000153002			Cpb1 (MGI:1923953)
chr3	148865296	148897203	3q24	3q24	114851	CPA3	Carboxypeptidase A3, mast cell	CPA3	1359	ENSG00000163751			Cpa3 (MGI:88479)
chr3	148991540	149031775	3q24-q25.1	3q24	603942	GYG1, GSD15	Glycogenin 1	GYG1	2992	ENSG00000163754	mutation identified in 1 GSD15 patient	?Glycogen storage disease XV, 613507 (3), Autosomal recessive; Polyglucosan body myopathy 2, 616199 (3), Autosomal recessive	Gyg1 (MGI:1351614)
chr3	149030063	149086533	3q25.1-q26.1	3q24	603257	SMARCA3, SNF2L3, HIP116	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3	HLTF	6596	ENSG00000071794			Hltf (MGI:1196437)
chr3	149129638	149173732	3q24	3q24	606118	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	HPS3	84343	ENSG00000163755		Hermansky-Pudlak syndrome 3, 614072 (3), Autosomal recessive	Hps3 (MGI:2153839)
chr3	149162414	149221829	3q23-q24	3q24-q25.1	117700	CP	Ceruloplasmin	CP	1356	ENSG00000047457	~15cM from TF	Aceruloplasminemia, 604290 (3), Autosomal recessive	Cp (MGI:88476)
chr3	149200001	188200000	3q25-q27		608638	ASPG1	Asperger syndrome, susceptibility to, 1		431710		max lod with D3S3037	{Asperger syndrome susceptibility 1}, 608638 (2), Multifactorial, Isolated cases	
chr3	149200001	188200000	3q25-q27		607373	AUTS8	Autism, susceptibility to, 8		282553			{Autism susceptibility 8}, 607373 (2), Multifactorial, Isolated cases	
chr3	149200001	183000000	3q25-q26		612008	CELIAC10	Celiac disease, susceptibility to, 10		100188872		associated with rs17810546	{Celiac disease, susceptibility to, 10}, 612008 (2)	
chr3	149200001	183000000	3q25-q26		615697	ETL6	Epilepsy, familial temporal lobe, 6		103106902		between D3S1584 and D3S3520	Epilepsy, familial temporal lobe, 6, 615697 (2), Autosomal dominant	
chr3	149369022	149377649	3q21-q25	3q25.1	191155	TM4SF1, M3S1, TAAL6	Transmembrane-4 superfamily, member 1	TM4SF1	4071	ENSG00000169908			Tm4sf1 (MGI:104678)
chr3	149474697	149503394	3q25	3q25.1	606567	TM4SF4, ILTMP	Transmembrane 4 superfamily, member 4	TM4SF4	7104	ENSG00000169903			Tm4sf4 (MGI:2385173)
chr3	149517235	149724788	3q24	3q25.1	607392	WWTR1, TAZ	WW domain-containing transcription regulator 1	WWTR1	25937	ENSG00000018408			Wwtr1 (MGI:1917649)
chr3	149738472	149752489	3q25.1	3q25.1	616699	COMMD2	COMM domain-containing protein 2	COMMD2	51122	ENSG00000114744			Commd2 (MGI:1098806)
chr3	149812688	149962139	3q25.1	3q25.1	609247	RNF13, DEE73	RING finger protein 13	RNF13	11342	ENSG00000082996		Developmental and epileptic encephalopathy 73, 618379 (3), Autosomal dominant	Rnf13 (MGI:1346341)
chr3	149964904	149970895	3q25.1-q25.2	3q25.1	176590	PFN2, PFL, D3S1319E	Profilin-2	PFN2	5217	ENSG00000070087	mapped previously to chr.1		Pfn2 (MGI:97550)
chr3	149982269	149983308	3q25.1	3q25.1	611365	TMEM183B, C1orf37DUP	Transmembrane protein 183B	TMEM183BP	653659	ENSG00000224831			Tmem183a (MGI:1914729)
chr3	150408298	150466422	3q25.1	3q25.1	617724	TSC22D2, KIAA0669	TSC22 domain family, member 2	TSC22D2	9819	ENSG00000196428			Tsc22d2 (MGI:1919283)
chr3	150541998	150546496	3q25.1	3q25.1	617674	SERP1, RAMP4	Stress-associated endoplasmic reticulum protein 1	SERP1	27230	ENSG00000120742			Serp1 (MGI:92638)
chr3	150546787	150586016	3q25.1	3q25.1	609234	EIF2A	Eukaryotic translation initiation factor 2A	EIF2A	83939	ENSG00000144895			Eif2a (MGI:1098684)
chr3	150603321	150630436	3q24	3q25.1	607912	SELENOT, SELT	Selenoprotein T	SELENOT	51714	ENSG00000198843			Selenot (MGI:1916477)
chr3	150741125	150763169	3q25	3q25.1	602213	SIAH2	SIAH E3 ubiquitin protein ligase family, member 2	SIAH2	6478	ENSG00000181788			Siah2 (MGI:108062)
chr3	150926163	150972999	3q21-q25	3q25.1	606397	CLRN1, USH3A, USH3, RP61	Clarin 1	CLRN1	7401	ENSG00000163646	frequent in Finland; ?digenic interaction with MYO7A	Usher syndrome, type 3A, 276902 (3), Autosomal recessive; Retinitis pigmentosa 61, 614180 (3)	Clrn1 (MGI:2388124)
chr3	151085664	151436653	3q21-q25	3q25.1	611318	MED12L, NOPAR, KIAA1635, NIZIDS	Mediator complex subunit 12-like	MED12L	116931	ENSG00000144893		Nizon-Isidor syndrome, 618872 (3), Autosomal dominant	Med12l (MGI:2139916)
chr3	151197754	151203216	3q25.1	3q25.1	618925	GPR171	G protein-coupled receptor 171	GPR171	29909	ENSG00000174946			Gpr171 (MGI:2442043)
chr3	151212117	151278542	3q25.1	3q25.1	610116	P2RY14, BPR105, KIAA0001	Purinergic receptor P2Y, G protein-coupled, 14	P2RY14	9934	ENSG00000174944			P2ry14 (MGI:2155705)
chr3	151294086	151316820	3q24	3q25.1	606379	GPR87	G protein-coupled receptor 87	GPR87	53836	ENSG00000138271			Gpr87 (MGI:1934133)
chr3	151326312	151329549	3q24	3q25.1	606380	P2RY13, GPR86	Purinergic receptor P2Y13	P2RY13	53829	ENSG00000181631			P2ry13 (MGI:1921441)
chr3	151336843	151384753	3q24-q25	3q25.1	600515	P2RY12, P2Y12, BDPLT8	Purinergic receptor P2Y, G protein-coupled, 12	P2RY12	64805	ENSG00000169313		Bleeding disorder, platelet-type, 8, 609821 (3), Autosomal recessive	P2ry12 (MGI:1918089)
chr3	151432432	151619925	3q25.1	3q25.1	617351	IGSF10	Immunoglobulin superfamily, member 10	IGSF10	285313	ENSG00000152580			Igsf10 (MGI:1923481)
chr3	151814116	151828488	3q21.3-q25.2	3q25.1	600338	AADAC, DAC	Arylacetamide deacetylase (esterase)	AADAC	13	ENSG00000114771			Aadac (MGI:1915008)
chr3	151873643	151884619	3q24-q25.1	3q25.1	606381	SUCNR1, GPR91	Succinate receptor 1	SUCNR1	56670	ENSG00000198829			Sucnr1 (MGI:1934135)
chr3	152243632	152465780	3q25	3q25.1-q25.2	606516	MBNL1, KIAA0428, EXP	Muscleblind-like protein	MBNL1	4154	ENSG00000152601			Mbnl1 (MGI:1928482)
chr3	152835131	152841439	3q25	3q25.2	601167	P2RY1, P2Y1	Purinergic receptor P2Y, G-protein coupled, 1	P2RY1	5028	ENSG00000169860			P2ry1 (MGI:105049)
chr3	153162226	153170627	3q25.2	3q25.2	179541	RAP2B	Ras-related protein 2B	RAP2B	5912	ENSG00000181467			Rap2b (MGI:1921262)
chr3	154121003	154257825	3q25.2	3q25.2	617552	ARHGEF26, SGEF	Rho guanine nucleotide exchange factor 26	ARHGEF26	26084	ENSG00000114790			Arhgef26 (MGI:1918053)
chr3	154272546	154324487	3q25.2	3q25.2	612767	DHX36, G4R1, RHAU, KIAA1488	DEAH-box helicase 36	DHX36	170506	ENSG00000174953			Dhx36 (MGI:1919412)
chr3	155024202	155183729	3q21-q27	3q25.2	120520	MME, CD10, CALLA, NEP, CMT2T, SCA43	Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen)	MME	4311	ENSG00000196549	mutation identified in 1 SCA43 family	?Spinocerebellar ataxia 43, 617018 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3), Autosomal recessive, Autosomal dominant	Mme (MGI:97004)
chr3	155290227	155293683	3q25.2	3q25.2	616891	DWORF, LOC100507537	Dwarf open reading frame	STRIT1	100507537	ENSG00000240045			Strit1 (MGI:5593461)
chr3	155300001	161000000	3q25.3		613459	BWQTL2	Birth weight quantitative trait locus 2		100502569		associated with rs900400	[Birth weight QTL 2], 613459 (2)	
chr3	155450934	155745071	3q25.31	3q25.31	612835	PLCH1, PLCL3, KIAA1069, HPE14	Phospholipase C, eta-1	PLCH1	23007	ENSG00000114805		Holoprosencephaly 14, 619895 (3), Autosomal recessive	Plch1 (MGI:2683547)
chr3	155762617	155806278	3q25.31	3q25.31	619654	C3orf33	Chromosome 3 open reading frame 33	C3orf33	285315	ENSG00000174928			E130311K13Rik (MGI:3607716)
chr3	155821024	155854427	3q25.31	3q25.31	603690	SLC33A1, ACATN, AT1, SPG42, HPBDS	Solute carrier family 33 (acetyl-CoA transporter), member 1	SLC33A1	9197	ENSG00000169359		Spastic paraplegia 42, autosomal dominant, 612539 (3), Autosomal dominant; Huppke-Brendel syndrome, 614482 (3), Autosomal recessive	Slc33a1 (MGI:1332247)
chr3	155869430	155944020	3q24	3q25.31	600358	GMPS	Guanine monophosphate synthetase	GMPS	8833	ENSG00000163655	fusion gene with MLL in AML		Gmps (MGI:2448526)
chr3	156118211	156539138	3q26.1	3q25.31	601141	KCNAB1, KCNA1B	Potassium voltage-gated channel, shaker-related subfamily, beta member 1	KCNAB1	7881	ENSG00000169282			Kcnab1 (MGI:109155)
chr3	156539553	156555117	3q25.31	3q25.31	606213	SSR3, TRAPG	Signal sequence receptor, gamma	SSR3	6747	ENSG00000114850			Ssr3 (MGI:1914687)
chr3	156674590	156706770	3q25.31	3q25.31	612480	TIPARP	TCDD-inducible poly(ADP-ribose) polymerase	TIPARP	25976	ENSG00000163659			Tiparp (MGI:2159210)
chr3	156826353	157046129	3q25.31	3q25.31	613536	LEKR1	Leucine-, glutamate-, and lysine-rich protein 1	LEKR1	389170	ENSG00000197980			Lekr1 (MGI:3645902)
chr3	157143121	157160147	3q25.31	3q25.31	613384	CCNL1, ANIA6A	Cyclin L1	CCNL1	57018	ENSG00000163660			Ccnl1 (MGI:1922664)
chr3	157259742	157503605	3q24-q25	3q25.31-q25.32	609594	VEPH1, MELT, KIAA1692	Ventricular zone-expressed PH domain-containing protein, zebrafish, homolog of, 1	VEPH1	79674	ENSG00000197415			Veph1 (MGI:1920039)
chr3	157436850	157443633	3q25	3q25.32	602492	PTX3	Pentraxin-3	PTX3	5806	ENSG00000163661			Ptx3 (MGI:104641)
chr3	158095905	158106420	3q25-q26	3q25.32	602504	SHOX2, SHOT, OG12	Short stature homeobox 2	SHOX2	6474	ENSG00000168779			Shox2 (MGI:1201673)
chr3	158110089	158545730	3q25.32	3q25.32	613352	RSRC1, SRRP53, MRT70	Arginine/serine-rich coiled-coil protein 1	RSRC1	51319	ENSG00000174891		Intellectual developmental disorder, autosomal recessive 70, 618402 (3), Autosomal recessive	Rsrc1 (MGI:1914130)
chr3	158571194	158606456	3q25.32	3q25.32	601402	MLF1	Myeloid leukemia factor-1	MLF1	4291	ENSG00000178053			Mlf1 (MGI:1341819)
chr3	158644527	158695581	3q25.32	3q25.32	606639	GFM1, EFG1, GFM, COXPD1	Mitochondrial elongation factor G1	GFM1	85476	ENSG00000168827		Combined oxidative phosphorylation deficiency 1, 609060 (3), Autosomal recessive	Gfm1 (MGI:107339)
chr3	158666414	158672648	3q25.3	3q25.32	609305	LXN, ECI, TCI	Latexin	LXN	56925	ENSG00000079257			Lxn (MGI:107633)
chr3	158696892	158732457	3q25.3	3q25.32	605090	RARRES1, TIG1	Retinoic acid receptor responder 1	RARRES1	5918	ENSG00000118849			Rarres1 (MGI:1924461)
chr3	158802054	158829716	3q25.32	3q25.32	619976	MFSD1	Major facilitator superfamily domain-containing protein 1	MFSD1	64747	ENSG00000118855			Mfsd1 (MGI:1914118)
chr3	159069319	159266307	3q25	3q25.32	611622	IQCJ	IQ motif-containing protein J	IQCJ	654502	ENSG00000214216			Iqcj (MGI:3644166)
chr3	159273244	159897359	3q25	3q25.32-q25.33	619206	SCHIP1	Schwannomin-interacting protein 1	SCHIP1	29970	ENSG00000151967			Schip1 (MGI:1353557)
chr3	159300001	161000000	3q25.33		109720	PBC1	Biliary cirrhosis, primary, 1				associated with rs6441286 and rs574808	Biliary cirrhosis, primary, 1, 109720 (2), Autosomal dominant	
chr3	159988835	159996019	3p12-q13.2	3q25.33	161560	IL12A	Interleukin-12A (natural killer cell stimulatory factor-1, cytotoxic lymphocyte maturation factor-1, p35)	IL12A	3592	ENSG00000168811			Il12a (MGI:96539)
chr3	160256986	160399225	3q25.33	3q25.33	611177	IFT80, KIAA1374, WDR56, SRTD2, ATD2	Intraflagellar transport 80	IFT80	57560	ENSG00000068885		Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3), Autosomal recessive	Ift80 (MGI:1915509)
chr3	160399650	160434953	3q26.1	3q25.33	605575	CAPC	Chromosome-associated protein C	SMC4	10051	ENSG00000113810			Smc4 (MGI:1917349)
chr3	160404588	160404685	3q25.33	3q25.33	619572	MIR15B	Micro RNA 15B	MIR15B	406949	ENSG00000207779			
chr3	160435503	160449786	3q26.1	3q25.33	616148	TRIM59, RNF104, MRF1, IFT80L	Tripartite motif-containing protein 59	TRIM59	286827	ENSG00000213186			Trim59 (MGI:1914199)
chr3	160495007	160565571	3q26.1	3q25.33	602970	KPNA4, QIP1	Karyopherin alpha-4	KPNA4	3840	ENSG00000186432			Kpna4 (MGI:1100848)
chr3	160514907	160515236	3q25.33	3q25.33	615644	SCARNA7	Small Cajal body-specific RNA 7	SCARNA7	677767	ENSG00000238741			
chr3	160677160	160678448	3q25.33	3q25.33	614439	ARL14, ARF7	ADP ribosylation factor-like GTPase 14	ARL14	80117	ENSG00000179674			Arl14 (MGI:1918869)
chr3	160756231	161078902	3q26.1	3q25.33-q26.1	611931	PPM1L, PP2CE	Protein phosphatase 1-like	PPM1L	151742	ENSG00000163590			Ppm1l (MGI:2139740)
chr3	161000001	183000000	3q26		109200	AGA1, MPB	Alopecia, androgenetic, 1		100188784			Alopecia, androgenetic, 1, 109200 (2), Autosomal dominant	
chr3	161000001	183000000	3q26		600049	MDS1	Myelodysplasia syndrome-1				cen--EVI1--MDS1--EAP--tel		
chr3	161000001	183000000	3q26.1-q26.3		606082	MNG3	Multinodular goiter-3		94337			Goiter, multinodular, 3, 606082 (2)	
chr3	161000001	183000000	3q26		609257	MYP8	Myopia 8		553192			Myopia 8, 609257 (2), Multifactorial	
chr3	161083883	161105349	3q25	3q26.1	603094	B3GALT3, GLCT3, GLOB	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 3	B3GALNT1	8706	ENSG00000169255		[Blood group, P1PK system, P(k) phenotype], 111400 (3); [Blood group, globoside system], 615021 (3)	B3galnt1 (MGI:1349405)
chr3	161221102	161253532	3q26.1	3q26.1	611021	NMD3	NMD3 ribosome export adaptor	NMD3	51068	ENSG00000169251			Nmd3 (MGI:2140103)
chr3	161344798	161371517	3q26.1	3q26.1	610412	SPTSSB, C3orf57, SSSPTB, ADMP	Serine palmitoyltransferase, small subunit B	SPTSSB	165679	ENSG00000196542			Sptssb (MGI:1913433)
chr3	164978898	165090232	3q25-q26	3q26.1	609845	SI	Sucrase-isomaltase	SI	6476	ENSG00000090402		Sucrase-isomaltase deficiency, congenital, 222900 (3), Autosomal recessive	Sis (MGI:1917233)
chr3	165186720	165197109	3q26	3q26.1	609679	SLITRK3, KIAA0848	SLIT- and NTRK-like family, member 3	SLITRK3	22865	ENSG00000121871			Slitrk3 (MGI:2679447)
chr3	165772904	165837423	3q26.1-q26.2	3q26.1	177400	BCHE, CHE1, BCHED	Butyrylcholinesterase	BCHE	590	ENSG00000114200	distal to CP, TF	Butyrylcholinesterase deficiency, 617936 (3), Autosomal recessive; {Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3), Autosomal recessive	Bche (MGI:894278)
chr3	167441933	167476963	3q26.1-q26.2	3q26.1	605587	SERPIN12, PI14, MEPI	Protease inhibitor 14	SERPINI2	5276	ENSG00000114204			Serpini2 (MGI:1915181)
chr3	167683298	167734892	3q26.1	3q26.1	609118	PDCD10, TFAR15, CCM3	Programmed cell death 10	PDCD10	11235	ENSG00000114209		Cerebral cavernous malformations-3, 603285 (3), Autosomal dominant	Pdcd10 (MGI:1928396)
chr3	167735721	167825569	3q26	3q26.1	602445	SERPINI1, PI12	Protease inhibitor 12	SERPINI1	5274	ENSG00000163536		Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3), Autosomal dominant	Serpini1 (MGI:1194506)
chr3	167900001	176000000	3q26.2-q26.31		610422	APMR2	Alopecia-intellectual disability syndrome 2		100049544		between D3S1564 and D3S2427	Alopecia-intellectual disability syndrome 2, 610422 (2), Autosomal recessive	
chr3	167900001	183000000	3q26.2-q26.33		612637	FEB10	Febrile seizures, familial, 10		100271923		between D3S3656 and D3S1232	Febrile seizures, familial, 10, 612637 (2)	
chr3	168008689	168095924	3q26.2	3q26.2	606805	GOLIM4, GOLPH4, GPP130	Golgi integral membrane protein 4	GOLIM4	27333	ENSG00000173905			Golim4 (MGI:1920374)
chr3	169083507	169663712	3q26	3q26.2	165215	MECOM, EVI1, RUSAT2	MDS1 and EVS1 complex locus	MECOM	2122	ENSG00000085276		Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3), Autosomal dominant	Mecom (MGI:95457)
chr3	169764610	169765060	3q21-q28	3q26.2	602322	TERC, TRC3, TR, DKCA1, PFBMFT2	Telomerase RNA component	TERC	7012	ENSG00000277925		Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, 614743 (3), Autosomal dominant; Dyskeratosis congenita, autosomal dominant 1, 127550 (3), Autosomal dominant	
chr3	169766921	169769561	3q26.2	3q26.2	608534	ARPM1	Actin-related protein M1	ACTRT3	84517	ENSG00000184378			Actrt3 (MGI:1923902)
chr3	169772230	169772302	3q26.2	3q26.2	615310	TRV-AAC1-1, TRNAV24	Transfer RNA valine (AAC) 1-1	TRV-AAC1-1	100189318				
chr3	169773396	169789716	3q26.2	3q26.2	606042	MYNN	Myoneurin	MYNN	55892	ENSG00000085274			Mynn (MGI:1931415)
chr3	169793003	169812904	3q26.2	3q26.2	619037	LRRC34	Leucine-rich repeat-containing protein 34	LRRC34	151827	ENSG00000171757			Lrrc34 (MGI:1919077)
chr3	169839172	169869935	3q26.2	3q26.2	620925	LRRC31	Leucine-rich repeat-containing protein 31	LRRC31	79782	ENSG00000114248			Lrrc31 (MGI:2443864)
chr3	169911572	169939175	3q26.2	3q26.2	620493	SAMD7, MDCD	Sterile alpha motif domain-containing protein 7	SAMD7	344658	ENSG00000187033		Macular dystrophy with or without cone dysfunction, 620762 (3), Autosomal recessive	Samd7 (MGI:1923203)
chr3	169966807	169998373	3q26.2	3q26.2	602173	SEC62, TLOC1, HTP1	SEC62 homolog, preprotein translocation factor	SEC62	7095	ENSG00000008952			Sec62 (MGI:1916526)
chr3	170087584	170181733	3q26.2	3q26.2	620031	PHC3, HPH3	Polyhomeotic homolog 3	PHC3	80012	ENSG00000173889			Phc3 (MGI:2181434)
chr3	170222424	170305977	3p25-q27	3q26.2	600539	PRKCI	Protein kinase C, iota	PRKCI	5584	ENSG00000163558	pseudogene on X		Prkci (MGI:99260)
chr3	170357715	170396849	3q26.2	3q26.2	165340	SKIL, SNO	SKI-like	SKIL	6498	ENSG00000136603			Skil (MGI:106203)
chr3	170418868	170434691	3q26.2-q26.3	3q26.2	601326	CLDN11, OTM, OSP, HLD22	Claudin 11 (oligodendrocyte transmembrane protein)	CLDN11	5010	ENSG00000013297		Leukodystrophy, hypomyelinating, 22, 619328 (3), Autosomal dominant	Cldn11 (MGI:106925)
chr3	170459548	170586075	3q26.2	3q26.2	615720	SLC7A14, KIAA1613, RP68	Solute carrier family 7, member 14	SLC7A14	57709	ENSG00000013293		Retinitis pigmentosa 68, 615725 (3), Autosomal recessive	Slc7a14 (MGI:3040688)
chr3	170888418	170908637	3q25-q27	3q26.2	605782	EIF5A2	Eukaryotic translation initiation factor 5A2	EIF5A2	56648	ENSG00000163577			Eif5a2 (MGI:1933735)
chr3	170996347	171026720	3q26.1-q26.3	3q26.2	138160	SLC2A2, GLUT2	Solute carrier family 2 (facilitated glucose transporter), member 2	SLC2A2	6514	ENSG00000163581		Fanconi-Bickel syndrome, 227810 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant	Slc2a2 (MGI:1095438)
chr3	171058414	171460408	3q26.2-q26.3	3q26.2-q26.31	610005	TNIK, KIAA0551, MRT54	TRAF2-and NCK-interacting kinase	TNIK	23043	ENSG00000154310		Intellectual developmental disorder, autosomal recessive 54, 617028 (3), Autosomal recessive	Tnik (MGI:1916264)
chr3	171600404	171810483	3q26	3q26.31	602382	PLD1, CVDP1	Phospholipase D1, phosphatidylcholine-specific	PLD1	5337	ENSG00000075651		Cardiac valvular dysplasia 1, 212093 (3), Autosomal recessive	Pld1 (MGI:109585)
chr3	172039578	172401669	3q26	3q26.31	611909	FNDC3B, FAD104	Fibronectin domain III-containing protein 3B	FNDC3B	64778	ENSG00000075420			Fndc3b (MGI:1919257)
chr3	172443291	172448456	3q26.3	3q26.31	601898	GHSR, GHDP	Growth hormone secretagogue receptor	GHSR	2693	ENSG00000121853		Growth hormone deficiency, isolated partial, 615925 (3), Autosomal recessive, Autosomal dominant	Ghsr (MGI:2441906)
chr3	172505508	172523430	3q26	3q26.31	603598	TNFSF10, TRAIL, APO2L	Tumor necrosis factor ligand superfamily, member 10	TNFSF10	8743	ENSG00000121858			Tnfsf10 (MGI:107414)
chr3	172630249	172711067	3q26.3	3q26.31	613234	NCEH1, NCEH, KIAA1363	Neutral cholesterol ester hydrolase 1	NCEH1	57552	ENSG00000144959			Nceh1 (MGI:2443191)
chr3	172750726	172829265	3q26.1-q26.2	3q26.31	600586	ECT2	Epithelial cell transforming sequence 2 oncogene	ECT2	1894	ENSG00000114346			Ect2 (MGI:95281)
chr3	172889357	173141235	3q26.3	3q26.31	609856	SPATA16, SPGF6	Spermatogenesis-associated protein 16	SPATA16	83893	ENSG00000144962	mutation identified in 1 SPGF6 family	?Spermatogenic failure 6, 102530 (3), Autosomal recessive	Spata16 (MGI:1918112)
chr3	173395952	174294372	3q26.3	3q26.31	600568	NLGN1	Neuroligin 1	NLGN1	22871	ENSG00000169760		{Autism, susceptibility to, 20}, 618830 (3), Autosomal dominant	Nlgn1 (MGI:2179435)
chr3	174440982	175810548	3q26.3	3q26.31	608806	NAALADL2	N-acetylated alpha-linked acidic dipeptidase-like 2	NAALADL2	254827	ENSG00000177694	?involved in Cornelia de Lange syndrome		Naaladl2 (MGI:2685867)
chr3	177019344	177201800	3q26.32	3q26.32	608628	TBL1XR1, TBLR1, IRA1, C21, MRD41	Transducin-beta-like 1 receptor 1	TBL1XR1	79718	ENSG00000177565		Intellectual developmental disorder, autosomal dominant 41, 616944 (3), Autosomal dominant; Pierpont syndrome, 602342 (3), Autosomal dominant	Tbl1xr1 (MGI:2441730)
chr3	178536436	178844429	3q26.32	3q26.32	605214	KCNMB2	Potassium channel, calcium-activated, large conductance, subfamily M, beta member 2	KCNMB2	10242	ENSG00000197584			Kcnmb2 (MGI:1919663)
chr3	179017223	179072513	3q26.3-q27	3q26.32	606452	WIG1	Wildtype p53-induced gene	ZMAT3	64393	ENSG00000172667			Zmat3 (MGI:1195270)
chr3	179148126	179240093	3q26.3	3q26.32	171834	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4, HMH	Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide	PIK3CA	5290	ENSG00000121879		Hemifacial myohyperplasia, somatic, 606773 (3); CLOVE syndrome, somatic, 612918 (3); Hepatocellular carcinoma, somatic, 114550 (3); Breast cancer, somatic, 114480 (3); Cerebral cavernous malformations 4, somatic, 619538 (3); Ovarian cancer, somatic, 167000 (3); Colorectal cancer, somatic, 114500 (3); Macrodactyly, somatic, 155500 (3); CLAPO syndrome, somatic, 613089 (3); Keratosis, seborrheic, somatic, 182000 (3); Nevus, epidermal, somatic, 162900 (3); Gastric cancer, somatic, 613659 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3); Cowden syndrome 5, 615108 (3)	Pik3ca (MGI:1206581)
chr3	179239703	179267050	3q26.3-q27.1	3q26.32	605222	KCNMB3	Potassium large conductance calcium-activated channel, subfamily M, beta member 3	KCNMB3	27094	ENSG00000171121			Kcnmb3 (MGI:3612244)
chr3	179322876	179338583	3q26.3	3q26.33	619214	ZNF639, ZASC1	Zinc finger protein 639	ZNF639	51193	ENSG00000121864			Zfp639 (MGI:1915028)
chr3	179347709	179394936	3q26.33	3q26.33	608506	MFN1	Mitofusin 1	MFN1	55669	ENSG00000171109			Mfn1 (MGI:1914664)
chr3	179396088	179527798	3q26.3	3q26.33	610863	GNB4, CMTD1F	Guanine nucleotide-binding protein, beta-4	GNB4	59345	ENSG00000114450		Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3), Autosomal dominant	Gnb4 (MGI:104581)
chr3	179562926	179588407	3q26.3	3q26.33	604958	ACTL6A, BAF53, BAF53A	Actin-like 6A	ACTL6A	86	ENSG00000136518			Actl6a (MGI:1861453)
chr3	179588285	179604646	3q26.3	3q26.33	611852	MRPL47	Mitochondrial ribosomal protein L47	MRPL47	57129	ENSG00000136522			Mrpl47 (MGI:1921850)
chr3	179604794	179627647	3q26.33	3q26.33	603841	NDUFB5	NADH-ubiquinone oxidoreductase subunit B5	NDUFB5	4711	ENSG00000136521			Ndufb5 (MGI:1913296)
chr3	179653040	179789401	3q26.2-q26.3	3q26.33	603591	USP13, ISOT3	Ubiquitin-specific protease-13	USP13	8975	ENSG00000058056			Usp13 (MGI:1919857)
chr3	179794958	180036937	3q26.2-q27	3q26.33	611058	PEX5L, PEX5R, PXR2B	Peroxisome biogenesis factor 5-like	PEX5L	51555	ENSG00000114757			Pex5l (MGI:1916672)
chr3	180614008	180679489	3q26.33	3q26.33	613798	CCDC39	Coiled-coil domain-containing protein 39	CCDC39	339829	ENSG00000284862		Ciliary dyskinesia, primary, 14, 613807 (3), Autosomal recessive	Ccdc39 (MGI:1289263)
chr3	180912670	180982753	3q28	3q26.33	600819	FXR1, MYORIBF, CMYO9A, CMYO9B	FMR1 autosomal homolog 1	FXR1	8087	ENSG00000114416	mutation identified in 1 CMYP9A family	Congenital myopathy 9B, proximal, with minicore lesions, 618823 (3), Autosomal recessive; ?Congenital myopathy 9A with respiratory insufficiency and bone fractures, 618822 (3), Autosomal recessive	Fxr1 (MGI:104860)
chr3	180983709	180989838	3q26.3	3q26.33	608977	DNAJC19, TIM14	DnaJ (Hsp40) homolog, subfamily C, member 19 (translocase of inner mitochondrial membrane 14, yeast, homolog of)	DNAJC19	131118	ENSG00000205981		3-methylglutaconic aciduria, type V, 610198 (3), Autosomal recessive	Dnajc19,Dnajc19-ps (MGI:1914963,MGI:3709029)
chr3	181056680	181742228	3q26.33	3q26.33	616338	SOX2OT, NCRNA00043	SOX2 overlapping transcript, noncoding	SOX2-OT	347689	ENSG00000242808			Sox2ot (MGI:2444112)
chr3	181711925	181714436	3q26.3-q27	3q26.33	184429	SOX2, MCOPS3	SRY (sex determining region Y)-box 2	SOX2	6657	ENSG00000181449		Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3), Autosomal dominant; Microphthalmia, syndromic 3, 206900 (3), Autosomal dominant	Sox2 (MGI:98364)
chr3	182793504	182921629	3q27	3q26.33	605869	ATP11B, ATPIR	ATPase, class VI, type 11B	ATP11B	23200	ENSG00000058063			Atp11b (MGI:1923545)
chr3	182938074	182985918	3q26.3	3q26.33	605905	DCUN1D1, RP42	DCN1 domain-containing protein 1	DCUN1D1	54165	ENSG00000043093	previously mapped to 6q16		Dcun1d1,Tes3-ps (MGI:2150386,MGI:3582925)
chr3	183000001	188200000	3q27		605552	AOMS1, SYNX	Abdominal obesity-metabolic syndrome QTL1		65076		epistatic gene on 17p12	Abdominal obesity-metabolic syndrome 1, 605552 (2), Autosomal dominant	
chr3	183000001	192600000	3q27-q28		605229	SPG14	Spastic paraplegia 14, autosomal recessive		57309			Spastic paraplegia 14, autosomal recessive, 605229 (2), Autosomal recessive	
chr3	183015218	183116196	3q25-q27	3q27.1	609010	MCCC1, MCCA	3-Methylcrotonyl-CoA carboxylase 1	MCCC1	56922	ENSG00000078070		3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3), Autosomal recessive	Mccc1 (MGI:1919289)
chr3	183122215	183163813	3q26.3-q27	3q27.1	605883	DCLAMP	Lysosome-associated membrane glycoprotein, dendritic cell-specific	LAMP3	27074	ENSG00000078081			Lamp3 (MGI:2441659)
chr3	183178041	183428619	3q27.1	3q27.1	619946	MCF2L2, ARHGEF22, KIAA0861	MCF.2 cell line-derived transforming sequence-like 2	MCF2L2	23101	ENSG00000053524			
chr3	183253253	183273385	3q27.1	3q27.1	615333	B3GNT5	Beta-1,3-N-acetylglucosaminyltransferase 5	B3GNT5	84002	ENSG00000176597			B3gnt5 (MGI:2137302)
chr3	183487551	183555706	3q27.3	3q27.1	614214	KLHL6, FLJ00029	Kelch-like 6	KLHL6	89857	ENSG00000172578			Klhl6 (MGI:2686922)
chr3	183635623	183684519	3q27.1	3q27.1	611295	KLHL24, KRIP6, EBS6, CMH29	Kelch-like 24	KLHL24	54800	ENSG00000114796		Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, 620236 (3), Autosomal recessive; Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, 617294 (3), Autosomal dominant	Klhl24 (MGI:1923035)
chr3	183697797	183812624	3q27.1	3q27.1	613373	YEATS2, KIAA1197, FAME4	YEATS domain-containing protein 2	YEATS2	55689	ENSG00000163872	mutation identifed in 1 FAME4 family	?Epilepsy, myoclonic, familial adult, 4, 615127 (3), Autosomal dominant	Yeats2 (MGI:2447762)
chr3	183815922	183825577	3q27	3q27.1	610593	MAPO6D1, SL21	MAP6 domain-containing protein 1	MAP6D1	79929	ENSG00000180834			Map6d1 (MGI:3607784)
chr3	183826489	183884880	3q27	3q27.1	607858	PARL	Presenilin-associated rhomboid-like protein	PARL	55486	ENSG00000175193			Parl (MGI:1277152)
chr3	183919934	184017884	3q27	3q27.1	605251	ABCC5, MRP5, MOATC	ATP-binding cassette, subfamily C, member 5	ABCC5	10057	ENSG00000114770			Abcc5 (MGI:1351644)
chr3	184031544	184039369	3q27	3q27.1	610122	HTR3D	5-hydroxytryptamine receptor 3, subunit D	HTR3D	200909	ENSG00000186090			
chr3	184053047	184060673	3q27	3q27.1	610121	HTR3C	5-hydroxytryptamine receptor 3C	HTR3C	170572	ENSG00000178084			
chr3	184097064	184106995	3q27	3q27.1	610123	HTR3E	5-hydroxytryptamine receptor 3, subunit E	HTR3E	285242	ENSG00000186038			
chr3	184135358	184145311	3q27	3q27.1	603945	EIF2B5, CACH, CLE, VWM5	Eukaryotic translation initiation factor 2B, subunit 5	EIF2B5	8893	ENSG00000145191		Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure, 620315 (3), Autosomal recessive	Eif2b5 (MGI:2446176)
chr3	184155377	184173614	3q27	3q27.1	601368	DVL3, DRS3	Dishevelled 3 (homologous to Drosophila dsh)	DVL3	1857	ENSG00000161202		Robinow syndrome, autosomal dominant 3, 616894 (3), Autosomal dominant	Dvl3 (MGI:108100)
chr3	184174855	184184091	3q28	3q27.1	601024	AP2M1, CLAPM1, MRD60	Adaptor-related protein complex 2, mu 1 subunit	AP2M1	1173	ENSG00000161203		Intellectual developmental disorder 60 with seizures, 618587 (3), Autosomal dominant	Ap2m1 (MGI:1298405)
chr3	184186199	184194005	3q27.1	3q27.1	618967	ABCF3	ATP-binding cassette, subfamily F, member 3	ABCF3	55324	ENSG00000161204			Abcf3 (MGI:1351656)
chr3	184241405	184241489	3q27.1	3q27.1	611620	MIR1224, MIRN1224	Micro RNA 1224	MIR1224	100187716	ENSG00000221120			Mir1224 (MGI:3764925)
chr3	184242301	184249525	3q27	3q27.1	608750	ALG3, NOT56L, CDGS4, CDG1D	ALG3 alpha-1,3-mannosyltransferase	ALG3	10195	ENSG00000214160		Congenital disorder of glycosylation, type Id, 601110 (3), Autosomal recessive	Alg3 (MGI:1098592)
chr3	184259213	184261553	3q27.1	3q27.1	608721	CAMK2N2, CAMKIIN	Calcium/calmodulin-dependent protein kinase II inhibitor 2	CAMK2N2	94032	ENSG00000163888			Camk2n2 (MGI:1920297)
chr3	184276022	184293031	3q27.1	3q27.1	610145	ECE2, KIAA0604	Endothelin-converting enzyme 2	ECE2	9718	ENSG00000145194			Ece2,Eef1ece2 (MGI:1101356,MGI:6121518)
chr3	184299241	184309050	3q27.1	3q27.1	606223	PSMD2, S2, TRAP2	Proteasome 26S subunit, non-APTase, 2	PSMD2	5708	ENSG00000175166			Psmd2 (MGI:1096584)
chr3	184314606	184335358	3q27	3q27.1	600495	EIF4G1, EIF4G, PARK18	Eukaryotic translation initiation factor 4 gamma, 1	EIF4G1	1981	ENSG00000114867	amplified in squamous cell lung cancer	{Parkinson disease 18}, 614251 (3), Autosomal dominant	Eif4g1 (MGI:2384784)
chr3	184346185	184361605	3q26	3q27.1	600570	CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT, HALD2	Chloride channel-2	CLCN2	1181	ENSG00000114859		Leukoencephalopathy with ataxia, 615651 (3), Autosomal recessive; Hyperaldosteronism, familial, type II, 605635 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3), Autosomal dominant	Clcn2 (MGI:105061)
chr3	184361710	184368591	3q28	3q27.1	606023	POLR2H, RPB8	Polymerase II, RNA, subunit H	POLR2H	5437	ENSG00000163882			Polr2h (MGI:2384309)
chr3	184371935	184379688	3q26.3-q27	3q27.1	600044	THPO, MGDF, MPLLG, TPO, THCYT1, THC9, CAMT2	Thrombopoietin (megakaryocyte growth and development factor)	THPO	7066	ENSG00000090534		Thrombocythemia 1, 187950 (3), Autosomal dominant; Thrombocytopenia 9, 620478 (3), Autosomal dominant; Amegakaryocytic thrombocytopenia, congenital, 2, 620481 (3), Autosomal recessive	Thpo (MGI:101875)
chr3	184380054	184390739	3q27	3q27.1	603475	CHRD	Chordin	CHRD	8646	ENSG00000090539	near THPO, CLCN2, EIF4G1		Chrd (MGI:1313268)
chr3	184561785	184582408	3q21-qter	3q27.1	601839	EPHB3, ETK2	EPH-like tyrosine kinase-2	EPHB3	2049	ENSG00000182580			Ephb3 (MGI:104770)
chr3	184710364	184712064	3q13	3q27.1	609267	MAGEF1	Melanoma antigen, family F, 1	MAGEF1	64110	ENSG00000177383			
chr3	184812166	185052614	3q27.2	3q27.2	618366	VPS8	VPS8, corvet complex subunit	VPS8	23355	ENSG00000156931			Vps8 (MGI:2146407)
chr3	185190624	185254049	3q27	3q27.2	607037	EHHADH, PBFE, LBFP, FRTS3	Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase	EHHADH	1962	ENSG00000113790	mutation identified in 1 family	?Fanconi renotubular syndrome 3, 615605 (3), Autosomal dominant	Ehhadh (MGI:1277964)
chr3	185282961	185489094	3q27	3q27.2	604915	MAP3K13, LZK	Mitogen-activated protein kinase kinase kinase 13 (leucine zipper-bearing kinase)	MAP3K13	9175	ENSG00000073803			Map3k13 (MGI:2444243)
chr3	185506262	185552588	3q27-q28	3q27.2	607365	LIPH, LAH2, ARWH2, HYPT7	Lipase H	LIPH	200879	ENSG00000163898		Hypotrichosis 7, 604379 (3), Autosomal recessive; Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3), Autosomal recessive	Liph (MGI:2388029)
chr3	185586295	185633551	3q27	3q27.2	608261	SENP2, SMT3IP2, AXAM2, KIAA1331	Sentrin-specific protease family, member 2	SENP2	59343	ENSG00000163904			Senp2 (MGI:1923076)
chr3	185643130	185825042	3q28	3q27.2	608289	IGF2BP2, IMP2	Insulin-like growth factor 2 mRNA-binding protein 2	IGF2BP2	10644	ENSG00000073792		{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant	Igf2bp2 (MGI:1890358)
chr3	185914558	185938014	3q26.2-q27	3q27.2	602719	TRA2B, SFRS10	Transformer 2 beta homolog	TRA2B	6434	ENSG00000136527			Tra2b (MGI:106016)
chr3	186046314	186109089	3q28	3q27.2	601600	ETV5, ERM	ETS variant transcription factor 5	ETV5	2119	ENSG00000244405			Etv5 (MGI:1096867)
chr3	186147201	186362234	3q27-q28	3q27.2-q27.3	601854	DGKG, DAGK3	Diacylglycerol kinase, gamma, 90-kD	DGKG	1608	ENSG00000058866			Dgkg (MGI:105060)
chr3	186538443	186544380	3q27	3q27.3	123730	CRYGS, CRYG8, CTRCT20	Crystallin, gamma S	CRYGS	1427	ENSG00000213139		Cataract 20, multiple types, 116100 (3), Autosomal dominant	Crygs (MGI:1298216)
chr3	186546067	186570543	3q27.3	3q27.3	619848	TBCCD1	TBCC domain-containing protein 1	TBCCD1	55171	ENSG00000113838			Tbccd1 (MGI:1917823)
chr3	186570720	186585793	3q27.3	3q27.3	611341	DNAJB11, HEDJ, DJ9, ABBP2, PKD6	DNAJ/HSP40 homolog, subfamily B, member 11	DNAJB11	51726	ENSG00000090520		Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3), Autosomal dominant	Dnajb11 (MGI:1915088)
chr3	186613060	186621318	3q27	3q27.3	138680	AHSG, APMR1	Alpha-2HS-glycoprotein	AHSG	197	ENSG00000145192	mutation identified in 1 APMR1 family	?Alopecia-intellectual disability syndrome 1, 203650 (3), Autosomal recessive	Ahsg (MGI:107189)
chr3	186635969	186653141	3q27	3q27.3	605954	FETUB	Fetuin B	FETUB	26998	ENSG00000090512			Fetub (MGI:1890221)
chr3	186666014	186678234	3q27	3q27.3	142640	HRG, THPH11	Histidine-rich glycoprotein	HRG	3273	ENSG00000113905		Thrombophilia 11 due to HRG deficiency, 613116 (3), Autosomal dominant	Hrg (MGI:2146636)
chr3	186717359	186744410	3q27	3q27.3	612358	KNG1, KNG, HAE6	Kininogen 1	KNG1	3827	ENSG00000113889		[Kininogen deficiency], 228960 (3), Autosomal recessive; Angioedema, hereditary, 6, 619363 (3), Autosomal dominant; [High molecular weight kininogen deficiency], 228960 (3), Autosomal recessive	Kng1,Kng2 (MGI:1097705,MGI:3027157)
chr3	186783577	186789897	3q28	3q27.3	601102	EIF4A2, NEDHSS	Eukaryotic translation initiation factor-4A, isoform 2	EIF4A2	1974	ENSG00000156976		Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, 620455 (3), Autosomal recessive, Autosomal dominant	Eif4a2 (MGI:106906)
chr3	186786676	186786852	3q27.3	3q27.3	611334	SNORA81	Small nucleolar RNA, H/ACA box, 81	SNORA81	677847	ENSG00000221420	in intron 3 of EIF2A		
chr3	186787299	186787433	3q27.3	3q27.3	180647	SNORA63, RNU107, RNE3	Small nucleolar RNA, H/ACA box, 63	SNORA63	6043	ENSG00000200320			
chr3	186789900	186806482	3q27	3q27.3	102577	RFC4, MRMNS	Replication factor C4, 37kD (activator 1, 37kD)	RFC4	5984	ENSG00000163918		Morimoto-Ryu-Malicdan neuromuscular syndrome, 621010 (3), Autosomal recessive	Rfc4 (MGI:2146571)
chr3	186842710	186858463	3q27	3q27.3	605441	ADIPOQ, APM1, GBP28, ADIPQTL1	Adipocyte-, C1q-, and collagen domain-containing	ADIPOQ	9370	ENSG00000181092		Adiponectin deficiency, 612556 (3), Autosomal dominant	Adipoq (MGI:106675)
chr3	186930526	187078553	3q21-q28	3q27.3	109675	SIAT1	Sialyltransferase-1 (beta-galactoside alpha-2,6-sialyltransferase)	ST6GAL1	6480	ENSG00000073849			St6gal1 (MGI:108470)
chr3	187120948	187139496	3q27	3q27.3	607547	RPL39L	Ribosomal protein L39-like	RPL39L	116832	ENSG00000163923			Rpl39l (MGI:1915422)
chr3	187197486	187201462	3q27.3	3q27.3	609137	RTP1	Receptor-transporting protein 1	RTP1	132112	ENSG00000175077			Rtp1 (MGI:2685450)
chr3	187217282	187291737	3q27-q28	3q27.3	600521	MASP1, CRARF, 3MC1	Mannan-binding lectin serine protease-1 (C4/C2 activating component of Ra-reactive factor)	MASP1	5648	ENSG00000127241		3MC syndrome 1, 257920 (3), Autosomal recessive	Masp1 (MGI:88492)
chr3	187368385	187372076	3q27	3q27.3	609350	RTP4	Receptor-transporting protein 4	RTP4	64108	ENSG00000136514			Rtp4 (MGI:1915025)
chr3	187668912	187670394	3q28	3q27.3	182450	SST	Somatostatin	SST	6750	ENSG00000157005			Sst (MGI:98326)
chr3	187698259	187715691	3q27.3	3q27.3	609138	RTP2	Receptor-transporting protein 2	RTP2	344892	ENSG00000198471			Rtp2 (MGI:2685451)
chr3	187721377	187745468	3q27	3q27.3	109565	BCL6	BCL6 transcription repressor	BCL6	604	ENSG00000113916			Bcl6 (MGI:107187)
chr3	188153021	188890671	3q28	3q27.3-q28	600700	LPP	Lipoma-preferred-partner gene	LPP	4026	ENSG00000145012	fused with HMGIC in lipoma; fused with MLL in leukemia	Lipoma (3); Leukemia, acute myeloid, 601626 (3), Somatic mutation, Autosomal dominant	Lpp (MGI:2441849)
chr3	188200001	192600000	3q28		612009	CELIAC11	Celiac disease, susceptibility to, 11		100188873		associated with rs1464510	{Celiac disease, susceptibility to, 11}, 612009 (2)	
chr3	188200001	192600000	3q28		614210	LNCR5	Lung cancer susceptibility 5		100682395		associated with rs4488809	{Lung cancer susceptibility 5}, 614210 (2)	
chr3	188688781	188688866	3q28	3q28	612154	MIR28, MIRN28	Micro RNA 28	MIR28	407020	ENSG00000207651			Mir28a (MGI:3619267)
chr3	189596746	189897276	3q27	3q28	603273	TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8	Tumor protein p63 (tumor protein p73-like)	TP63	8626	ENSG00000073282		Premature ovarian failure 21, 620311 (3), Autosomal dominant; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3), Autosomal dominant; Hay-Wells syndrome, 106260 (3), Autosomal dominant; Split-hand/foot malformation 4, 605289 (3), Autosomal dominant; Orofacial cleft 8, 618149 (3); Rapp-Hodgkin syndrome, 129400 (3), Autosomal dominant; ADULT syndrome, 103285 (3), Autosomal dominant; Limb-mammary syndrome, 603543 (3), Autosomal dominant	Trp63 (MGI:1330810)
chr3	189956728	190122278	3q29	3q28	610341	P3H2, LEPREL1, MCVD	Prolyl 3-hydroxylase 2	P3H2	55214	ENSG00000090530		Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3), Autosomal recessive	P3h2 (MGI:2146663)
chr3	190290361	190412138	3q27	3q28	603959	CLDN16, PCLN1, HOMG3	Claudin 16 (paracellin 1)	CLDN16	10686	ENSG00000113946		Hypomagnesemia 3, renal, 248250 (3), Autosomal recessive	Cldn16 (MGI:2148742)
chr3	190305707	190322446	3q28-q29	3q28	603718	CLDN1, SEMP1, ILVASC	Claudin 1	CLDN1	9076	ENSG00000163347		Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3), Autosomal recessive	Cldn1 (MGI:1276109)
chr3	190428655	190449901	3q28	3q28	614786	TMEM207	Transmembrane protein 207	TMEM207	131920	ENSG00000198398			Tmem207 (MGI:2685386)
chr3	190514085	190659750	3q28	3q28	602626	IL1RAP	Interleukin 1 receptor accessory protein	IL1RAP	3556	ENSG00000196083			Il1rap (MGI:104975)
chr3	190843271	190862694	3q28	3q28	614448	GMNC, GEMC1	Geminin coiled-coil domain-containing protein	GMNC	647309	ENSG00000205835			Gmnc (MGI:2685452)
chr3	191199241	191265615	3q26	3q28	610280	OSTN	Osteocrin	OSTN	344901	ENSG00000188729			Ostn (MGI:2677164)
chr3	191267168	191346182	3q28	3q28	618134	UTS2B, URP	Urotensin 2B	UTS2B	257313	ENSG00000188958			Uts2b (MGI:2677064)
chr3	191329394	191398659	3q28	3q28	611051	CCDC50, C3orf6, DFNA44	Coiled-coil domain-containing protein 50	CCDC50	152137	ENSG00000152492	mutation identified in 1 DFNA44 family	?Deafness, autosomal dominant 44, 607453 (3), Autosomal dominant	Ccdc50 (MGI:1914751)
chr3	191461163	191461456	3q28	3q28	615701	PYDC2, POP2	Pyrin domain-containing protein 2	PYDC2	152138	ENSG00000253548			
chr3	192139390	192727541	3q28	3q28-q29	601513	FGF12, FHF1, DEE47	Fibroblast growth factor-12	FGF12	2257	ENSG00000114279		Developmental and epileptic encephalopathy 47, 617166 (3), Autosomal dominant	Fgf12 (MGI:109183)
chr3	192600001	198295559	3q29		609425	DEL3q29, MICRODEL3q29	Chromosome 3q29 microdeletion syndrome				contiguous gene deletion syndrome	Chromosome 3q29 microdeletion syndrome, 609425 (4), Isolated cases	
chr3	192600001	198295559	3q29		611936	DUP3q29, MICRODUP3q29	Chromosome 3q29 microduplication syndrome				contiguous gene duplication syndrome	Chromosome 3q29 microduplication syndrome, 611936 (4), Autosomal dominant	
chr3	192796815	192917856	3q29	3q29	620914	MB21D2	MAB21 domain-containing protein 2	MB21D2	151963	ENSG00000180611			Mb21d2 (MGI:1917028)
chr3	193240606	193281426	3q29	3q29	606487	PLAAT1, HRASLS	Phospholipase A and acetyltransferase 1	PLAAT1	57110	ENSG00000127252			Plaat1 (MGI:1351473)
chr3	193274789	193378753	3q29	3q29	619119	ATP13A5	ATPase 13A5	ATP13A5	344905	ENSG00000187527			Atp13a5 (MGI:2444068)
chr3	193398967	193593119	3q29	3q29	609556	ATP13A4	ATPase 13A4	ATP13A4	84239	ENSG00000127249			Atp13a4 (MGI:1924456)
chr3	193593208	193697811	3q28-q29	3q29	605290	OPA1, NTG, NPG, BERHS, MTDPS14	OPA1 mitochondrial dynamin-like GTPase	OPA1	4976	ENSG00000198836	mutation identified in 1 MTDPS14 family	Optic atrophy plus syndrome, 125250 (3), Autosomal dominant; {Glaucoma, normal tension, susceptibility to}, 606657 (3); Optic atrophy 1, 165500 (3), Autosomal dominant; Behr syndrome, 210000 (3), Autosomal recessive; ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3), Autosomal recessive	Opa1 (MGI:1921393)
chr3	194136148	194138732	3q28-q29	3q29	139605	HES1, HRY	Hes family bHLH transcription factor 1	HES1	3280	ENSG00000114315			Hes1 (MGI:104853)
chr3	194339768	194351328	3q29	3q29	603104	CPN2	Carboxypeptidase N, polypeptide 2, 83-KD	CPN2	1370	ENSG00000178772	conflicting assignment to chr.8		Cpn2 (MGI:1919006)
chr3	194355249	194369743	3q29	3q29	619327	LRRC15, LIB	Leucine-rich repeat-containing protein 15	LRRC15	131578	ENSG00000172061			Lrrc15 (MGI:1921738)
chr3	194394821	194399266	3q29	3q29	173511	GP5	Glycoprotein V, platelet	GP5	2814	ENSG00000178732			Gp5 (MGI:1096363)
chr3	194402677	194494334	3q26.32	3q29	610232	ATP13A3, AFURS1, PPH5	ATPase 13A3	ATP13A3	79572	ENSG00000133657		Pulmonary hypertension, primary, 5, 265400 (3), Autosomal recessive	Atp13a3 (MGI:2685387)
chr3	194640791	194672191	3q29	3q29	610780	LSG1	Large 60S subunit nuclear export GTPase 1	LSG1	55341	ENSG00000041802			Lsg1 (MGI:107236)
chr3	195068284	195271159	3q29	3q29	614552	XXYLT1, C3orf21	Xyloside xylosyltransferase 1	XXYLT1	152002	ENSG00000173950			Xxylt1 (MGI:2146443)
chr3	195274745	195443020	3q29	3q29	607766	CENTB2, KIAA0041, ACAP2	Centaurin, beta-2	ACAP2	23527	ENSG00000114331			Acap2 (MGI:1925868)
chr3	195514428	195543325	3q29	3q29	601792	PPP1R2, IPP2	Protein phosphatase-1, regulatory (inhibitor) subunit 2	PPP1R2	5504	ENSG00000184203	pseudogenes on chr. 5 and 6		Ppp1r2 (MGI:1914099)
chr3	195568705	195583940	3q26.2-qter	3q29	107740	APOD	Apolipoprotein D	APOD	347	ENSG00000189058			Apod (MGI:88056)
chr3	195699401	195699497	3q29	3q29	614538	MIR570	Micro RNA 570	MIR570	693155	ENSG00000207650			
chr3	195720978	195733551	3q29	3q29	610360	MUC20	Mucin 20, cell surface-associated	MUC20	200958	ENSG00000176945			Muc20 (MGI:2385039)
chr3	195746771	195811929	3q29	3q29	158372	MUC4	Mucin 4, tracheobronchial	MUC4	4585	ENSG00000145113			Muc4 (MGI:2153525)
chr3	195863364	195908551	3q29	3q29	606994	TNK2, ACK, ACK1	Tyrosine kinase, non-receptor, 2	TNK2	10188	ENSG00000061938			Tnk2 (MGI:1858308)
chr3	196049284	196082090	3q29	3q29	190010	TFRC, TFR, CD71, IMD46	Transferrin receptor	TFRC	7037	ENSG00000072274		Immunodeficiency 46, 616740 (3), Autosomal recessive	Tfrc (MGI:98822)
chr3	196197452	196211400	3q29	3q29	618671	DHHC19	Zinc finger DHHC domain-containing palmitoyltransferase 19	ZDHHC19	131540	ENSG00000163958			Zdhhc19 (MGI:2682948)
chr3	196216534	196233427	3q29	3q29	612084	SLC51A, OSTA, PFIC6	Solute carrier family 51, alpha subunit (organic solute transporter, alpha)	SLC51A	200931	ENSG00000163959	mutation identified in 1 PFIC6 patient	?Cholestasis, progressive familial intrahepatic, 6, 619484 (3), Autosomal recessive	Slc51a (MGI:2146634)
chr3	196234368	196287726	3q29	3q29	123695	PCYT1A, CTPCT, PCYT1, SMDCRD, CGL5	Phosphate cytidylyltransferase 1, choline, alpha isoform	PCYT1A	5130	ENSG00000161217		Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3), Autosomal recessive; Lipodystrophy, congenital generalized, type 5, 620680 (3), Autosomal recessive	Pcyt1a (MGI:88557)
chr3	196291219	196318240	3q29	3q29	617353	DYNLT2B, TCTEX1D2, SRTD17	Dynein light chain Tctex-type 2B	DYNLT2B	255758	ENSG00000213123		Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3), Autosomal recessive	Dynlt2b (MGI:1913311)
chr3	196323547	196338388	3q29	3q29	620845	TM4SF19	Transmembrane 4 L6 family, member 19	TM4SF19	116211	ENSG00000145107			Tm4sf19 (MGI:3645933)
chr3	196347662	196432427	3q29	3q29	616379	UBXN7, KIAA0794	UBX domain protein 7	UBXN7	26043	ENSG00000163960			Ubxn7 (MGI:2146388)
chr3	196468783	196503768	3q29	3q29	612688	RNF168, RIDL	RING finger protein 168	RNF168	165918	ENSG00000163961		RIDDLE syndrome, 611943 (3), Autosomal recessive	Rnf168 (MGI:1917488)
chr3	196554177	196568554	3q29	3q29	615110	WDR53	WD repeat-containing protein 53	WDR53	348793	ENSG00000185798			Wdr53 (MGI:1916230)
chr3	196568660	196589059	3q29	3q29	609112	FBXO45, FBX45	F-box only protein 45	FBXO45	200933	ENSG00000174013			Fbxo45 (MGI:2447775)
chr3	196639694	196662004	3q29	3q29	615322	NRROS, LRRC33, SENEBAC	Negative regulator of oxygen species	NRROS	375387	ENSG00000174004		Seizures, early-onset, with neurodegeneration and brain calcification, 618875 (3), Autosomal recessive	Nrros (MGI:2445095)
chr3	196706277	196712250	3q29	3q29	615586	CEP19, C3orf34, MOSPGF	Centrosomal protein, 19kD	CEP19	84984	ENSG00000174007	mutation identified in 1 family	Morbid obesity and spermatogenic failure, 615703 (3), Autosomal recessive	Cep19 (MGI:1914244)
chr3	196712377	196736007	3q29	3q29	610276	PIGX	Phosphatidylinositol glycan, class X	PIGX	54965	ENSG00000163964			Pigx (MGI:1919334)
chr3	196739857	196832647	3q29	3q29	605022	PAK2, PAK65, KNO2	p21-activated kinase 2	PAK2	5062	ENSG00000180370	deleted in 3q29 microdeletion syndrome; mutation identified in 1 KNO2 family	?Knobloch syndrome 2, 618458 (3), Autosomal dominant	Pak2 (MGI:1339984)
chr3	196867920	196934714	3q29	3q29	612845	SENP5	Sentrin-specific protease family, member 5	SENP5	205564	ENSG00000119231			Senp5 (MGI:2443596)
chr3	196935406	196942528	3q29	3q29	605133	NCBP2, CBP20, NIP1	Nuclear CAP-binding protein 2	NCBP2	22916	ENSG00000114503			Ncbp2 (MGI:1915342)
chr3	196946356	196968833	3q29	3q29	611671	PIGZ, SMP3	Phosphatidylinositol glycan, class Z	PIGZ	80235	ENSG00000119227			Pigz (MGI:2443822)
chr3	197001740	197029817	3q29	3q29	155750	MFI2, MAP97	Melanoma-associated antigen p97	MELTF	4241	ENSG00000163975			Meltf (MGI:1353421)
chr3	197042560	197299321	3q29	3q29	601014	DLG1	Discs large MAGUK scaffold protein 1	DLG1	1739	ENSG00000075711	deleted in 3q29 microdeletion syndrome		Dlg1 (MGI:107231)
chr3	197509783	197573343	3q29	3q29	603063	BDH1, BDH	3-hydroxybutyrate dehydrogenase 1	BDH1	622	ENSG00000161267			Bdh1 (MGI:1919161)
chr3	197668867	197749820	3q29	3q29	613516	RUBCN, RUBICON, KIAA0226, SCAR15	RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein	RUBCN	9711	ENSG00000145016		Spinocerebellar ataxia, autosomal recessive 15, 615705 (3), Autosomal recessive	Rubcn (MGI:1915160)
chr3	197749533	197787596	3q29	3q29	616933	FYTTD1, UIF	Forty-two-three domain-containing protein 1	FYTTD1	84248	ENSG00000122068			Fyttd1 (MGI:1917955)
chr3	197889077	197960177	3q29	3q29	612477	IQCG	IQ motif-containing protein G	IQCG	84223	ENSG00000114473			Iqcg (MGI:1916957)
chr3	197950190	197956610	3q29-qter	3q29	180468	RPL35A, DBA5	Ribosomal protein L35A	RPL35A	6165	ENSG00000182899	previous assignment to chr.18 in error	Diamond-Blackfan anemia 5, 612528 (3), Autosomal dominant	Rpl35a (MGI:1928894)
chr3	197960217	198043720	3q29	3q29	609380	LMLN	Leishmanolysin-like	LMLN	89782	ENSG00000185621			Lmln (MGI:2444736)
chr4	1	4500000	4p16.3		610203	CRIPAK, FLJ3443	Cysteine-rich inhibitor of PAK1						
chr4	1	11300000	4p16		600593	CRSA, CRS3	Craniosynostosis, Adelaide type		7885			Craniosynostosis, Adelaide type, 600593 (2), ?Autosomal dominant	
chr4	1	182300000	4p16-q34		603783	INTLQ1	Intelligence quantitative trait locus 1		100462721		associated with D4S2943, MSX1, and D4S1607	{Intelligence QTL1}, 603783 (2)	
chr4	1	50000001	4p		603663	MHW1	Mental health wellness 1		10386		at D4S2949	{Mental health wellness-1}, 603663 (2)	
chr4	1	35800000	4p16-p15		611863	MNDEC	Microtia with nasolacrimal duct imperforation and eye coloboma		100188855		copy number variant (CNV) association	Microtia with nasolacrimal duct imperforation and eye coloboma, 611863 (4)	
chr4	1	11300000	4p16		611637	PLSA1, PLSA	Primary lateral sclerosis, adult, 1		100240702		max lod at D4S2936	Primary lateral sclerosis, adult, 1, 611637 (2), Autosomal dominant	
chr4	1	27700000	4p16-p15.2		605480	SLEB3	Systemic lupus erythematosus, susceptibility to, 3		64695			{Systemic lupus erythematosus, susceptibility to, 3}, 605480 (2)	
chr4	1	35800000	4p16-p15		612335	SPG38	Spastic paraplegia 38, autosomal dominant		100049707		between D4S432 and D4S1599	Spastic paraplegia 38, autosomal dominant, 612335 (2), Autosomal dominant	
chr4	1	4500000	4p16.3		194190	WHS	Wolf-Hirschhorn syndrome				contiguous gene syndrome; critical region 200kb region 1.9Mb from telomere	Wolf-Hirschhorn syndrome, 194190 (4), Isolated cases	
chr4	337814	384868	4p16.3	4p16.3	194648	ZNF141, D4S90, PAPA6	Zinc finger protein-141 (clone pHZ-44)	ZNF141	7700	ENSG00000131127	1 family identified with mutation	?Polydactyly, postaxial, type A6, 615226 (3), Autosomal recessive	
chr4	499210	540200	4p16.3	4p16.3	616918	PIGG, GPI7, NEDHSCA, EMM	Phosphatidylinositol glycan anchor biosynthesis class G protein	PIGG	54872	ENSG00000174227		[Blood group, EMM system], 619812 (3), Autosomal recessive; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, 616917 (3), Autosomal recessive	Pigg (MGI:3576484)
chr4	625573	670782	4p16.3	4p16.3	180072	PDE6B, PDEB, RP40, CSNBAD2	Phosphodiesterase 6B	PDE6B	5158	ENSG00000133256		Retinitis pigmentosa-40, 613801 (3), Autosomal recessive; Night blindness, congenital stationary, autosomal dominant 2, 163500 (3), Autosomal dominant	Pde6b (MGI:97525)
chr4	672436	674276	4p16.3	4p16.3	601519	ATP5I, ATP5K	ATP synthase, H+ transporting, mitochondrial FO complex, subunit E	ATP5ME	521	ENSG00000169020			Atp5me (MGI:106636)
chr4	674542	682028	4p16.3	4p16.3	160782	MYL5	Myosin, light polypeptide-5, regulatory	MYL5	4636	ENSG00000215375			
chr4	676826	691624	4p16.3	4p16.3	620318	SLC49A3, MFSD7	Solute carrier family 49, member 3	SLC49A3	84179	ENSG00000169026			Slc49a3 (MGI:2442629)
chr4	705832	770089	4p16.3	4p16.3	617543	PCGF3, RNF3, RNF3A	Polycomb group RING finger protein 3	PCGF3	10336	ENSG00000185619			Pcgf3 (MGI:1916837)
chr4	784957	826129	4p16.3	4p16.3	605032	CPLX1, CPX1, DEE63	Complexin 1	CPLX1	10815	ENSG00000168993		Developmental and epileptic encephalopathy 63, 617976 (3), Autosomal recessive	Cplx1 (MGI:104727)
chr4	849277	932316	4p16	4p16.3	602052	GAK	Cyclin G associated kinase	GAK	2580	ENSG00000178950			Gak (MGI:2442153)
chr4	932460	958656	4p16.3	4p16.3	616660	TMEM175	Transmembrane protein 175	TMEM175	84286	ENSG00000127419			Tmem175 (MGI:1919642)
chr4	958887	973569	4p16.3	4p16.3	601207	DGKQ, DAGK4	Diacylglycerol kinase, theta, 110kD	DGKQ	1609	ENSG00000145214			Dgkq (MGI:102918)
chr4	978991	993404	4p16.3	4p16.3	610130	SLC26A1, SAT1, CAON1, HYSULF	Solute carrier family 26 (sulfate transporter), member 1	SLC26A1	10861	ENSG00000145217	mutation identified in 1 CAON1 patient and 1 HYSULF patient	?Hypersulfaturia, 620372 (3), Autosomal recessive; ?Nephrolithiasis, calcium oxalate, 1, 167030 (3), Autosomal recessive	Slc26a1 (MGI:2385894)
chr4	986997	1008351	4p16.3	4p16.3	252800	IDUA, IDA	Iduronidase, alpha-L-	IDUA	3425	ENSG00000127415		Mucopolysaccharidosis Is, 607016 (3), Autosomal recessive; Mucopolysaccharidosis Ih/s, 607015 (3), Autosomal recessive; Mucopolysaccharidosis Ih, 607014 (3), Autosomal recessive	Idua (MGI:96418)
chr4	1010212	1026898	4p16	4p16.3	605830	FGFRL1	Fibroblast growth factor receptor-like 1	FGFRL1	53834	ENSG00000127418			Fgfrl1 (MGI:2150920)
chr4	1056251	1113710	4p16.3	4p16.3	612041	RNF212, ZHP3, SPGF62	RING finger protein 212	RNF212	285498	ENSG00000178222	mutation identified in 1 SPGF62 family	?Spermatogenic failure 62, 619673 (3), Autosomal recessive; Recombination rate QTL 1, 612042 (3)	Rnf212 (MGI:3645767)
chr4	1166932	1208844	4p16.3	4p16.3	605918	SPON2	Spondin 2	SPON2	10417	ENSG00000159674			Spon2 (MGI:1923724)
chr4	1211445	1250355	4p16	4p16.3	602618	CTBP1, HADDTS	C-terminal binding protein 1	CTBP1	1487	ENSG00000159692		Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3), Autosomal dominant	Ctbp1 (MGI:1201685)
chr4	1289891	1340137	4p16.3	4p16.3	606801	MAEA, EMP	Macrophage erythroblast attacher	MAEA	10296	ENSG00000090316			Maea (MGI:1891748)
chr4	1342011	1395989	4p16.3	4p16.3	614632	UVSSA, KIAA1530, UVSS3	UV-stimulated scaffold protein A	UVSSA	57654	ENSG00000163945		UV-sensitive syndrome 3, 614640 (3), Autosomal recessive	Uvssa (MGI:1918351)
chr4	1402932	1406442	4p16.3	4p16.3	617869	NKX1-1, SAX2	NK1 homeobox 1	NKX1-1	54729	ENSG00000235608			Nkx1-1 (MGI:109346)
chr4	1574062	1686017	4p16.3	4p16.3	617229	FAM53A, DNTNP	Family with sequence similarity 53, member A	FAM53A	152877	ENSG00000174137			Fam53a (MGI:1919225)
chr4	1692731	1712319	4p16.3	4p16.3	602422	SLBP, HBP	Stem-loop binding protein	SLBP	7884	ENSG00000163950			Slbp (MGI:108402)
chr4	1715952	1721323	4p16.3	4p16.3	615975	TMEM129	Transmembrane protein 129	TMEM129	92305	ENSG00000168936			Tmem129 (MGI:1915616)
chr4	1721521	1745171	4p16.3	4p16.3	605303	TACC3	Transforming, acidic, coiled-coil-containing protein 3	TACC3	10460	ENSG00000013810			Tacc3 (MGI:1341163)
chr4	1793293	1808867	4p16.3	4p16.3	134934	FGFR3, ACH	Fibroblast growth factor receptor-3	FGFR3	2261	ENSG00000068078		Muenke syndrome, 602849 (3), Autosomal dominant; SADDAN, 616482 (3), Autosomal dominant; Hypochondroplasia, 146000 (3), Autosomal dominant; Thanatophoric dysplasia, type II, 187601 (3), Autosomal dominant; Nevus, epidermal, somatic, 162900 (3); CATSHL syndrome, 610474 (3), Autosomal recessive, Autosomal dominant; Thanatophoric dysplasia, type I, 187600 (3), Autosomal dominant; Spermatocytic seminoma, somatic, 273300 (3); Bladder cancer, somatic, 109800 (3); LADD syndrome 2, 620192 (3), Autosomal dominant; Achondroplasia, 100800 (3), Autosomal dominant; Cervical cancer, somatic, 603956 (3); Colorectal cancer, somatic, 114500 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3), Autosomal dominant	Fgfr3 (MGI:95524)
chr4	1811479	1856156	4p16.3	4p16.3	604407	LETM1, CONDMIM	Leucine zipper/EF-hand-containing transmembrane protein 1	LETM1	3954	ENSG00000168924		Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, 620089 (3), Autosomal recessive	Letm1 (MGI:1932557)
chr4	1871393	1982192	4p16.3	4p16.3	602952	NSD2, WHSC1, MMSET, RAUST	Nuclear receptor-binding SET domain protein 2	NSD2	7468	ENSG00000109685		Rauch-Steindl syndrome, 619695 (3), Autosomal dominant	Nsd2 (MGI:1276574)
chr4	1982723	2008974	4p16.3	4p16.3	606026	NELFA, WHSC2	Negative elongation factor complex member A	NELFA	7469	ENSG00000185049			Nelfa (MGI:1346098)
chr4	2036554	2043964	4p16.3	4p16.3	614690	C4orf48	chromosome 4 open reading frame 48	NICOL1	401115	ENSG00000243449			Nicol1 (MGI:2686519)
chr4	2059327	2069089	4p16.3	4p16.3	610647	NAT8L, CML3, NACED	N-acetyltransferase 8-like	NAT8L	339983	ENSG00000185818	mutation identified in 1 patient	?N-acetylaspartate deficiency, 614063 (3), Autosomal recessive	Nat8l (MGI:2447776)
chr4	2071918	2242121	4p16.2	4p16.3	610887	POLN	Polymerase, DNA, nu	POLN	353497	ENSG00000130997			Poln (MGI:2675617)
chr4	2228349	2242121	4p16.3	4p16.3	613430	HAUS3, DGT3, C4orf15	HAUS augmin-like complex, subunit 3	HAUS3	79441	ENSG00000214367			Haus3 (MGI:2387633)
chr4	2247432	2262109	4p16.3	4p16.3	620016	MXD4, MAD4	Max dimerization protein 4	MXD4	10608	ENSG00000123933			Mxd4 (MGI:104991)
chr4	2269597	2418645	4p16	4p16.3	614176	ZFYVE28, LST2, KIAA1643	Zinc finger FYVE domain-containing protein 28	ZFYVE28	57732	ENSG00000159733			Zfyve28 (MGI:2684992)
chr4	2469106	2515857	4p16.3	4p16.3	602850	RNF4	RING finger protein-4	RNF4	6047	ENSG00000063978			Rnf4 (MGI:1201691)
chr4	2535375	2732573	4p16.3	4p16.3	620037	FAM193A	Family with sequence similarity 193, member A	FAM193A	8603	ENSG00000125386			Fam193a (MGI:2447768)
chr4	2741648	2756336	4p16.3	4p16.3	610669	TNIP2, ABIN2, FLIP1	TNFAIP3-interacting protein 2	TNIP2	79155	ENSG00000168884			Tnip2 (MGI:2386643)
chr4	2793085	2841096	4p16.3	4p16.3	602104	SH3BP2, CRPM	SH3-domain binding protein 2	SH3BP2	6452	ENSG00000087266		Cherubism, 118400 (3), Autosomal dominant	Sh3bp2 (MGI:1346349)
chr4	2843844	2930062	4p16.3	4p16.3	102680	ADD1	Adducin-1, alpha	ADD1	118	ENSG00000087274		{Hypertension, essential, salt-sensitive}, 145500 (3), Multifactorial	Add1 (MGI:87918)
chr4	2930567	2934825	4p16.3	4p16.3	610977	TETRAN, TPO1	Tetracycline transporter-like protein	MFSD10	10227	ENSG00000109736			Mfsd10 (MGI:1915544)
chr4	2937936	2963406	4p16.3	4p16.3	611526	NOP14, NOL14, RES425	NOP14 nucleolar protein	NOP14	8602	ENSG00000087269			Nop14 (MGI:1922666)
chr4	2963571	3040760	4p16.3	4p16.3	137026	GRK4, GPRK2L, GPRK4	G protein-coupled receptor kinase 4	GRK4	2868	ENSG00000125388			Grk4 (MGI:95801)
chr4	3074681	3243960	4p16.3	4p16.3	613004	HTT, HD, IT15, LOMARS	Huntingtin	HTT	3064	ENSG00000197386	distal to D4S10	Lopes-Maciel-Rodan syndrome, 617435 (3), Autosomal recessive; Huntington disease, 143100 (3), Autosomal dominant	Htt (MGI:96067)
chr4	3285891	3439913	4p16.2	4p16.3	602512	RGS12	Regulator of G protein signaling 12	RGS12	6002	ENSG00000159788			Rgs12 (MGI:1918979)
chr4	3441005	3449486	4p16	4p16.3	604552	HGFAC, HGFA	Hepatocyte growth factor activator	HGFAC	3083	ENSG00000109758			Hgfac (MGI:1859281)
chr4	3463306	3501482	4p16.2	4p16.3	610285	DOK7, C4orf25, CMS10, FADS3	Downstream of tyrosine kinase 7	DOK7	285489	ENSG00000175920	mutation identified in 1 FADS3 family	Fetal akinesia deformation sequence 3, 618389 (3), Autosomal recessive; Myasthenic syndrome, congenital, 10, 254300 (3), Autosomal recessive	Dok7 (MGI:3584043)
chr4	3503612	3532422	4p16.3	4p16.3	104225	LRPAP1, A2MRAP, MYP23	Low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)	LRPAP1	4043	ENSG00000163956		Myopia 23, autosomal recessive, 615431 (3), Autosomal recessive	Lrpap1 (MGI:96829)
chr4	3766385	3768526	4p16.1	4p16.3	104250	ADRA2C, ADRA2L2	Adrenergic, alpha-2C-, receptor	ADRA2C	152	ENSG00000184160	linked to D4S10		Adra2c (MGI:87936)
chr4	4188726	4226929	4p16.2	4p16.3	607806	OTOP1	Otopetrin 1	OTOP1	133060	ENSG00000163982			Otop1 (MGI:2388363)
chr4	4267701	4290154	4p16.3	4p16.3	617684	LYAR	Ly1 antibody-reactive protein	LYAR	55646	ENSG00000145220			Lyar (MGI:107470)
chr4	4290251	4321783	4p16.3	4p16.3	616238	ZBTB49, ZNF509	Zinc finger- and BTB domain-containing protein 49	ZBTB49	166793	ENSG00000168826			Zbtb49 (MGI:1922329)
chr4	4386532	4419058	4p16.3	4p16.3	607645	NSG1, D4S234E, D4S234	Neuronal vesicle trafficking associated 1	NSG1	27065	ENSG00000168824			Nsg1 (MGI:109149)
chr4	4418968	4542343	4p16.3-p16.2	4p16.3-p16.2	606046	STX18	Syntaxin 18	STX18	53407	ENSG00000168818			Stx18 (MGI:1918366)
chr4	4859665	4863936	4p16.1	4p16.2	142983	MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3	MSH homeobox 1	MSX1	4487	ENSG00000163132		Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3), Autosomal dominant; Ectodermal dysplasia 3, Witkop type, 189500 (3), Autosomal dominant; Orofacial cleft 5, 608874 (3), Autosomal dominant	Msx1 (MGI:97168)
chr4	5014586	5019458	4p16.2	4p16.2	607930	CYTL1, C17	Cytokine-like protein 1	CYTL1	54360	ENSG00000170891			Cytl1 (MGI:2684993)
chr4	5529011	5709548	4p16	4p16.2	607261	EVC2, LBN, WAD	EvC ciliary complex subunit 2 (limbin)	EVC2	132884	ENSG00000173040		Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant	Evc2 (MGI:1915775)
chr4	5711201	5829057	4p16	4p16.2	604831	EVC	EvC ciliary complex subunit 1	EVC	2121	ENSG00000072840	mutation identified in 1 WAD patient	Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; ?Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant	Evc (MGI:1890596)
chr4	5820764	5893086	4p16.1-p15	4p16.2	602462	CRMP1, DPYSL1, DRP1	Collapsin response mediator protein-1	CRMP1	1400	ENSG00000072832			Crmp1 (MGI:107793)
chr4	6026199	6200549	4p16.2	4p16.1	611195	JAKMIP1, JAMIP1, MARLIN1	Janus kinase and microtubule-interacting protein 1	JAKMIP1	152789	ENSG00000152969			Jakmip1 (MGI:1923321)
chr4	6269850	6303265	4p16.1	4p16.1	606201	WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41	Wolframin ER transmembrane glycoprotein	WFS1	7466	ENSG00000109501	mutation identified in 1 CTRCT41 family	Deafness, autosomal dominant 6/14/38, 600965 (3), Autosomal dominant; ?Cataract 41, 116400 (3), Autosomal dominant; Wolfram-like syndrome, autosomal dominant, 614296 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3), Autosomal dominant; Wolfram syndrome 1, 222300 (3), Autosomal recessive	Wfs1 (MGI:1328355)
chr4	6320581	6563799	4p16	4p16.1	605997	PPP2R2C, PR52	Protein phosphatase 2A, regulatory subunit B, gamma isoform	PPP2R2C	5522	ENSG00000074211			Ppp2r2c (MGI:2442660)
chr4	6575189	6623362	4p16.1	4p16.1	618899	MAN2B2	Mannosidase, alpha, class 2B, member 2	MAN2B2	23324	ENSG00000013288			Man2b2 (MGI:1195262)
chr4	6640685	6642729	4p16.1	4p16.1	616905	MRFAP1, PAM14, PGR1`	MORF4 family- associated protein 1	MRFAP1	93621	ENSG00000179010			Mrfap1 (MGI:1914818)
chr4	6693878	6697170	4p16	4p16.1	600614	S100P	S100 calcium-binding protein P	S100P	6286	ENSG00000163993			
chr4	6716174	6717664	4p16.1	4p16.1	605695	BLOC1S4, BLOS4, CNO	Biogenesis of lysosome-related organelles complex 1, subunit 4	BLOC1S4	55330	ENSG00000186222			Bloc1s4 (MGI:1929230)
chr4	6782727	6884164	4p16.1	4p16.1	619237	KIAA0232	KIAA0232 gene	KIAA0232	9778	ENSG00000170871			D5Ertd579e (MGI:1261849)
chr4	6909466	7033114	4p16.1	4p16.1	614855	TBC1D14, KIAA1322	TBC1 domain family, member 14	TBC1D14	57533	ENSG00000132405			Tbc1d14 (MGI:1098708)
chr4	7040849	7043001	4p16.1	4p16.1	619347	CCDC96	Coiled-coil domain-containing protein 96	CFAP184	257236	ENSG00000173013			Ccdc96 (MGI:1913967)
chr4	7043372	7057952	4p16.1	4p16.1	608790	TADA2B, ADA2B	Transcriptional adaptor 2B	TADA2B	93624	ENSG00000173011			Tada2b (MGI:3035274)
chr4	7058895	7068064	4p16	4p16.1	606173	GRPEL1, HMGE	GrpE-like 1, mitochondrial	GRPEL1	80273	ENSG00000109519			Grpel1 (MGI:1334417)
chr4	7192538	7742827	4p16.1	4p16.1	606284	SORCS2, KIAA1329	Sortilin-related VPS10 domain-containing receptor 2	SORCS2	57537	ENSG00000184985			Sorcs2 (MGI:1932289)
chr4	7754090	7778928	4p16.1	4p16.1	619779	AFAP1AS1	AFAP1 antisense RNA 1, noncoding	AFAP1-AS1	84740	ENSG00000272620			
chr4	7758713	7939861	4p16.1	4p16.1	608252	AFAP1, AFAP, AFAP110	Actin filament-associated protein 1	AFAP1	60312	ENSG00000196526			Afap1 (MGI:1917542)
chr4	7965327	8158813	4p16	4p16.1	612544	ABLIM2, KIAA1808	Actin-binding LIM protein family, member 2	ABLIM2	84448	ENSG00000163995			Ablim2 (MGI:2385758)
chr4	8005301	8005381	Chr.4	4p16.1	613185	MIR95, MIRN95	Micro RNA 95	MIR95	407052	ENSG00000207807			
chr4	8269754	8307098	4p16.1	4p16.1	608785	HTRA3, PRSP	HTRA serine peptidase 3	HTRA3	94031	ENSG00000170801			Htra3 (MGI:1925808)
chr4	8355305	8440723	4p15.3	4p16.1	603402	ACOX3	Acyl-coenzyme A oxidase 3, pristanoyl	ACOX3	8310	ENSG00000087008			Acox3 (MGI:1933156)
chr4	8440777	8516950	4p16.3	4p16.1	614309	TRMT44, METTL19	tRNA methyltransferase 44 homolog	TRMT44	152992	ENSG00000155275			Trmt44 (MGI:1926140)
chr4	8580392	8590023	4p16.1	4p16.1	606921	GPR78	G protein-coupled receptor 78	GPR78	27201	ENSG00000155269			
chr4	8592765	8619752	4p16.1	4p16.1	603105	CPZ	Carboxypeptidase Z	CPZ	8532	ENSG00000109625			Cpz (MGI:88487)
chr4	8846076	8871839	4p16.1	4p16.1	142992	HMX1, H6	Homeobox (H6 family) 1	HMX1	3166	ENSG00000215612		Oculoauricular syndrome, 612109 (3), Autosomal recessive	Hmx1 (MGI:107178)
chr4	9358382	9359974	4p16.1	4p16.1	607011	USP17L9P, USP17	Ubiquitin-specific protease 17-like family member 9, pseudogene	USP17L9P	391627	ENSG00000251694			
chr4	9771025	10040270	4p16-p15.3	4p16.1	606142	SLC2A9, GLUT9, UAQTL2	Solute carrier family 2 (facilitated glucose transporter), member 9	SLC2A9	56606	ENSG00000109667		{Uric acid concentration, serum, QTL 2}, 612076 (3), Autosomal recessive, Autosomal dominant; Hypouricemia, renal, 2, 612076 (3), Autosomal recessive, Autosomal dominant	Slc2a9 (MGI:2152844)
chr4	9781634	9784009	4p16.1-p15.3	4p16.1	126453	DRD5, DRD1B, DRD1L2	Dopamine receptor D5	DRD5	1816	ENSG00000169676	pseudogenes on 2p11 and 1q21	{Blepharospasm, primary benign}, 606798 (3), Autosomal dominant; {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3), Autosomal dominant	Drd5 (MGI:94927)
chr4	10074339	10116799	4p16.1	4p16.1	604734	WDR1, PFITS	WD repeat-containing protein 1	WDR1	9948	ENSG00000071127		Periodic fever, immunodeficiency, and thrombocytopenia syndrome, 150550 (3), Autosomal recessive	Wdr1 (MGI:1337100)
chr4	10439880	10461365	4p16.1	4p16.1	617734	ZNF518B, KIAA1729	Zinc finger protein 518B	ZNF518B	85460	ENSG00000178163			Zfp518b (MGI:2140750)
chr4	10486395	10734846	4p16.1	4p16.1	611434	CLNK, MIST	Cytokine-dependent hematopoietic cell linker	CLNK	116449	ENSG00000109684			Clnk (MGI:1351468)
chr4	11300001	41200000	4p15-p14		608410	BMIQ7	Body mass index quantitative trait locus 7		404683			{Obesity, susceptibility to, BMIQ7}, 608410 (2)	
chr4	11300001	35800000	4p15		607221	EPPS	Epilepsy, partial, with pericentral spikes		266789			Epilepsy, partial, with pericentral spikes, 607221 (2)	
chr4	11300001	21300000	4p15.3		604802	HDL3, HLN2	Huntington disease-like 3		53369			Huntington disease-like 3, 604802 (2), Autosomal recessive	
chr4	11300001	21300000	4p15.3		612226	STQTL13	Stature quantitative trait locus 13		100270796		associated with rs16896068	{Stature QTL 13}, 612226 (2)	
chr4	11393150	11434327	4p15.33	4p15.33	603244	HS3ST1, 3OST, 3OST1	Heparan sulfate-glucosamine 3-sulfotransferase 1	HS3ST1	9957	ENSG00000002587			Hs3st1 (MGI:1201606)
chr4	13367724	13484340	4p15.33	4p15.33	612994	RAB28, CORD18	Ras-associated protein 28	RAB28	9364	ENSG00000157869		Cone-rod dystrophy 18, 615374 (3), Autosomal recessive	Rab28 (MGI:1917285)
chr4	13540830	13547744	4p16.1	4p15.33	602183	NKX3-2, BAPX1, SMMD	NK3 homeobox 1	NKX3-2	579	ENSG00000109705		Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive	Nkx3-2 (MGI:108015)
chr4	13568738	13627725	4p16.1	4p15.33	616746	BOD1L1, FAM44A	BOD1-like protein 1	BOD1L1	259282	ENSG00000038219			Bod1l (MGI:2444804)
chr4	15002481	15070151	4q32-q33	4p15.32	610605	CPEB2	Cytoplasmic polyadenylation element-binding protein 2	CPEB2	132864	ENSG00000137449			Cpeb2 (MGI:2442640)
chr4	15469865	15601557	4p15.3	4p15.32	612013	CC2D2A, KIAA1345, MKS6, COACH2, RP93	Coiled-coil and C2 domains-containing protein 2A	CC2D2A	57545	ENSG00000048342		COACH syndrome 2, 619111 (3), Autosomal recessive; Retinitis pigmentosa 93, 619845 (3), Autosomal recessive; Meckel syndrome 6, 612284 (3), Autosomal recessive; Joubert syndrome 9, 612285 (3), Autosomal recessive	Cc2d2a (MGI:1924487)
chr4	15604381	15681569	4p15.33	4p15.32	605655	FBXL5, FBL5	F-box and leucine-rich repeat protein 5	FBXL5	26234	ENSG00000118564			Fbxl5 (MGI:2152883)
chr4	15703065	15774173	4p15.32	4p15.32	600387	BST1	Bone marrow stromal cell antigen 1	BST1	683	ENSG00000109743	previously assigned to 14q32.3		Bst1 (MGI:105370)
chr4	15778328	15853232	4p15	4p15.32	107270	CD38	CD38 antigen (p45); ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase	CD38	952	ENSG00000004468			Cd38 (MGI:107474)
chr4	15935577	15938740	4p15.3	4p15.32	607737	FGFBP1, FGFBP, HBP17	Fibroblast growth factor-binding protein 1	FGFBP1	9982	ENSG00000137440			Fgfbp1 (MGI:1096350)
chr4	15960245	15963175	4p16	4p15.32	607713	FGFBP2, KSP37	Fibroblast growth factor-binding protein 2	FGFBP2	83888	ENSG00000137441			
chr4	15968228	16084023	4p15.3	4p15.32	604365	PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4	Prominin 1	PROM1	8842	ENSG00000007062		Macular dystrophy, retinal, 2, 608051 (3), Autosomal dominant; Retinitis pigmentosa 41, 612095 (3), Autosomal recessive; Stargardt disease 4, 603786 (3), Autosomal dominant; Cone-rod dystrophy 12, 612657 (3), Autosomal recessive, Autosomal dominant	Prom1 (MGI:1100886)
chr4	16160505	16227390	4p15.32	4p15.32	612758	TAPT1, CMVFR, OCLSBG	Transmembrane anterior posterior transformation 1	TAPT1	202018	ENSG00000169762		Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3), Autosomal recessive	Tapt1 (MGI:2683537)
chr4	16501541	16898645	4p15	4p15.32	603450	LDB2, CLIM1	LIM domain-binding factor-2	LDB2	9079	ENSG00000169744			Ldb2 (MGI:894670)
chr4	17486395	17512090	4p15.31	4p15.32	612676	QDPR, DHPR	Quinoid dihydropteridine reductase	QDPR	5860	ENSG00000151552		Hyperphenylalaninemia, BH4-deficient, C, 261630 (3), Autosomal recessive	Qdpr (MGI:97836)
chr4	17515165	17527104	4p15.32	4p15.32	618988	CLRN2, DFNB117	Clarin 2	CLRN2	645104	ENSG00000249581		Deafness, autosomal recessive 117, 619174 (3), Autosomal recessive	Clrn2 (MGI:3646230)
chr4	17577198	17607970	4p11-q12	4p15.32	170250	PEPS	Peptidase S	LAP3	51056	ENSG00000002549			Lap3 (MGI:1914238)
chr4	17614641	17634105	4p15.32	4p15.32	610311	MED28, EG1, MAGICIN	Mediator complex subunit 28	MED28	80306	ENSG00000118579			Med28 (MGI:1914249)
chr4	17629306	17781621	4p15.32-p15.31	4p15.32-p15.31	619945	FAM184B, KIAA1276	Family with sequence similarity 184, member B	FAM184B	27146	ENSG00000047662			Fam184b (MGI:2442958)
chr4	17793446	17810757	4p15.31	4p15.31	620524	DCAF16	DDB1- and CUL4-associated factor 16	DCAF16	54876	ENSG00000163257			
chr4	17810979	17844865	4p15.3	4p15.31	606280	NCAPG, CAPG	Non-SMC condensin I complex subunit G	NCAPG	64151	ENSG00000109805			Ncapg (MGI:1930197)
chr4	17841187	18021875	4p15.3	4p15.31	611799	LCORL, MLR1	Ligand-dependent nuclear receptor corepressor-like protein	LCORL	254251	ENSG00000178177			Lcorl (MGI:2651932)
chr4	20251905	20620561	4p15.2	4p15.31	603746	SLIT2	SLIT guidance ligand 2	SLIT2	9353	ENSG00000145147			Slit2 (MGI:1315205)
chr4	20528275	20528384	4p15.31	4p15.31	616770	MIR218-1	Micro RNA 218-1	MIR218-1	407000	ENSG00000207732	within intron of SLIT2		Mir218-1 (MGI:3618751)
chr4	20728606	21948772	4p15.3	4p15.31-p15.2	608182	KCNIP4, KCHIP4	Kv channel-interacting protein 4	KCNIP4	80333	ENSG00000185774			Kcnip4 (MGI:1933131)
chr4	22387376	22516066	4p15.2	4p15.2	612303	ADGRA3, GPR125	Adhesion G protein-coupled receptor A3	ADGRA3	166647	ENSG00000152990			Adgra3 (MGI:1917943)
chr4	22692937	22819569	4p15.31	4p15.2	606619	GBA3, CBGL1	Glucosidase, beta, acid 3	GBA3	57733	ENSG00000249948			
chr4	23792021	24472905	4p15.1	4p15.2	604517	PPARGC1A, PPARGC1	Peroxisome proliferator-activated receptor-gamma, coactivator 1, alpha	PPARGC1A	10891	ENSG00000109819			Ppargc1a (MGI:1342774)
chr4	24527475	24584554	4p15.3	4p15.2	603403	DHX15, DDX15, DBP1, HRH2	DEAH-box helicase 15	DHX15	1665	ENSG00000109606			Dhx15 (MGI:1099786)
chr4	24795573	24800842	4p15.3-p15.1	4p15.2	185490	SOD3	Superoxide dismutase-3, extracellular	SOD3	6649	ENSG00000109610		[Superoxide dismutase, elevated extracellular] (3)	Sod3 (MGI:103181)
chr4	24992081	25030946	4p15.2	4p15.2	608301	LGI2, KIAA1916	Leucine-rich gene, glioma-inactivated, 2	LGI2	55203	ENSG00000153012			Lgi2 (MGI:2180196)
chr4	25120014	25160582	4p15.2	4p15.2	613009	SEPSECS, SLA, LP, PCH2D	O-phosphoserine tRNA-selenocysteine tRNA synthase	SEPSECS	51091	ENSG00000109618		Pontocerebellar hypoplasia type 2D, 613811 (3), Autosomal recessive	Sepsecs (MGI:1098791)
chr4	25234033	25279204	4p15.2	4p15.2	612101	PI4K2B	Phosphatidylinositol 4-kinase, type 2, beta	PI4K2B	55300	ENSG00000038210			Pi4k2b (MGI:1914323)
chr4	25312774	25370383	4p15.2	4p15.2	611792	ZCCHC4	Zinc finger CCHC domain-containing protein 4	ZCCHC4	29063	ENSG00000168228			Zcchc4 (MGI:1926046)
chr4	25377263	25418498	4p15.2	4p15.2	606947	ANAPC4, APC4	Anaphase-promoting complex, subunit 4	ANAPC4	29945	ENSG00000053900			Anapc4 (MGI:1098673)
chr4	25655851	25678748	4p15.31-p15.2	4p15.2	604217	SLC34A2, PULAM	Solute carrier family 34 (sodium/phosphate cotransporter), member 2	SLC34A2	10568	ENSG00000157765		Pulmonary alveolar microlithiasis, 265100 (3), Autosomal recessive	Slc34a2 (MGI:1342284)
chr4	25713964	25863566	4p15.2	4p15.2	619914	SEL1L3, KIAA0746	SEL1L family, member 3	SEL1L3	23231	ENSG00000091490			Sel1l3 (MGI:1916941)
chr4	25914220	25929812	4p15.2	4p15.2	617465	SMIM20, MITRAC7, C4orf52	Small integral membrane protein 20	SMIM20	389203	ENSG00000250317			Smim20 (MGI:1913528)
chr4	26105449	26435131	4p15.2	4p15.2	147183	RBPJ, RBPSUH, IGKJRB1, AOS3	Recombination signal-binding protein 1 for kappa J region	RBPJ	3516	ENSG00000168214	pseudogenes at 9q13, 9p13, and 3q25	Adams-Oliver syndrome 3, 614814 (3), Autosomal dominant	Rbpj (MGI:96522)
chr4	26481396	26490484	4p15.2-p15.1	4p15.2	118444	CCKAR	Cholecystokinin A receptor	CCKAR	886	ENSG00000163394			Cckar (MGI:99478)
chr4	26860841	27025381	4p15.1	4p15.2	610841	STIM2, KIAA1482	Stromal interaction molecule 2	STIM2	57620	ENSG00000109689			Stim2 (MGI:2151156)
chr4	27700001	58500000	4p15.1-q12		607107	NPC1, NPCA1	Nasopharyngeal carcinoma 1		257641		?associated with acyl-CoA thioesterase 7-like	{Nasopharyngeal carcinoma 1}, 607107 (2)	
chr4	30720369	31146800	4p15	4p15.1	602988	PCDH7, BHPCDH	Protocadherin-7	PCDH7	5099	ENSG00000169851			Pcdh7 (MGI:1860487)
chr4	36005404	36244784	4p14	4p14	606645	ARAP2, CENTD1, KIAA0580	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	ARAP2	116984	ENSG00000047365			Arap2 (MGI:2684416)
chr4	36281616	36347511	4p14	4p14	616979	DTHD1	Death domain-containing protein 1	DTHD1	401124	ENSG00000197057			Dthd1 (MGI:4937018)
chr4	37244743	37449463	4p14	4p14	620172	NWD2, KIAA1239	NACHT domain- and WD repeat-containing protein 2	NWD2	57495	ENSG00000174145			Nwd2 (MGI:1920464)
chr4	37586304	37686376	4p14	4p14	611212	RELL1	Relt-like 1	RELL1	768211	ENSG00000181826			Rell1 (MGI:2140767)
chr4	37826686	37862937	4p14-q12	4p14	172000	PGM2	Phosphoglucomutase-2	PGM2	55276	ENSG00000169299			Pgm2 (MGI:97564)
chr4	37891084	38139173	4p15.1-q21	4p14	609850	TBC1D1, KIAA1108	TBC1 domain family, member 1	TBC1D1	23216	ENSG00000065882			Tbc1d1 (MGI:1889508)
chr4	37960398	37961128	4p12	4p14	604231	PTTG2	Pituitary tumor-transforming gene 2	PTTG2	10744	ENSG00000250254			Pttg1 (MGI:1353578)
chr4	38664199	38701517	4p14	4p14	609392	KLF3, BKLF	Kruppel-like factor 3	KLF3	51274	ENSG00000109787			Klf3 (MGI:1342773)
chr4	38772238	38782990	4p14	4p14	606270	TLR10	Toll-like receptor 10	TLR10	81793	ENSG00000174123			
chr4	38787569	38805644	4p14	4p14	601194	TLR1, TIL. LPRS5	Toll-like receptor-1	TLR1	7096	ENSG00000174125		{Leprosy, susceptibility to, 5}, 613223 (3); {Leprosy, protection against}, 613223 (3)	Tlr1 (MGI:1341295)
chr4	38822897	38868390	4p14	4p14	605403	TLR6	Toll-like receptor 6	TLR6	10333	ENSG00000174130			Tlr6 (MGI:1341296)
chr4	38868032	38868127	4p14	4p14	615469	MIR574, MIR574-3p	Micro RNA 574	MIR574	693159	ENSG00000207944			Mir574 (MGI:3718549)
chr4	39044827	39143101	4p15.1-p13	4p14	608064	KLHL5	Kelch-like 5	KLHL5	51088	ENSG00000109790			Klhl5 (MGI:1919028)
chr4	39182529	39285810	4p14-p11	4p14	608151	WDR19, SRTD5, ATD5, NPHP13, CED4, SPGF72	WD repeat-containing protein 19	WDR19	57728	ENSG00000157796	mutation identified in 1 CED4 family and 1 SRTD5 family	Nephronophthisis 13, 614377 (3), Autosomal recessive; Cranioectodermal dysplasia 4, 614378 (3), Autosomal recessive; Senior-Loken syndrome 8, 616307 (3), Autosomal recessive; Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3), Autosomal recessive; ?Spermatogenic failure 72, 619867 (3), Autosomal recessive	Wdr19 (MGI:2443231)
chr4	39287456	39366362	4p14-p13	4p14	102579	RFC1, RECC1, CANVAS	Replication factor C1, 145kD (activator 1, 145kD)	RFC1	5981	ENSG00000035928		Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575 (3), Autosomal recessive	Rfc1 (MGI:97891)
chr4	39406930	39451533	4p14	4p14	611135	KLB, BKL	Klotho, beta	KLB	152831	ENSG00000134962			Klb (MGI:1932466)
chr4	39454124	39458922	4p13	4p14	603686	RPL9	Ribosomal protein L9	RPL9	6133	ENSG00000163682	pseudogene on Xpter-p21		Rpl9,Rpl9-ps1,Rpl9-ps6 (MGI:1298373,MGI:3642682,MGI:3649210)
chr4	39459056	39479506	4p14	4p14	607031	LIAS, PDHLD, HGCLAS	Lipoic acid synthase	LIAS	11019	ENSG00000121897		Hyperglycinemia, lactic acidosis, and seizures, 614462 (3), Autosomal recessive	Lias (MGI:1934604)
chr4	39498755	39527439	4p15.1	4p14	603370	UGDH, UDPGDH, DEE84	UDP-glucose dehydrogenase	UGDH	7358	ENSG00000109814		Developmental and epileptic encephalopathy 84, 618792 (3), Autosomal recessive	Ugdh (MGI:1306785)
chr4	39698136	39782792	4p14	4p14	602846	UBE2K, HIP2	Ubiquitin-conjugating enzyme E2 K	UBE2K	3093	ENSG00000078140			Ube2k (MGI:1858216)
chr4	39822863	39977911	4p14	4p14	613200	PDS5A, KIAA0648, SCC112	PDS5 cohesin-associated factor A	PDS5A	23244	ENSG00000121892			Pds5a (MGI:1918771)
chr4	40042917	40057199	4p14-p11	4p14	611963	LOC344967	Acyl-CoA thioesterase 7-like		344967	ENSG00000293349	?associated with nasopharyngeal carcinoma		
chr4	40056850	40190470	4p14	4p14	619139	N4BP2, KIAA1413	NEDD4-binding protein 2	N4BP2	55728	ENSG00000078177			N4bp2 (MGI:2684414)
chr4	40191080	40246967	4p13	4p14	602037	RHOH, ARHH, TTF, IMD129	Ras homolog gene family, member H	RHOH	399	ENSG00000168421		Immunodeficiency 129, 618307 (3), Autosomal recessive	Rhoh (MGI:1921984)
chr4	40335333	40355217	4p15.1-p14	4p14	605116	CHRNA9	Cholinergic receptor, neuronal nicotinic, alpha polypeptide 9	CHRNA9	55584	ENSG00000174343			Chrna9 (MGI:1202403)
chr4	40423280	40630852	4p14	4p14	619104	RBM7	RNA-binding motif protein 47	RBM47	54502	ENSG00000163694			Rbm47 (MGI:2384294)
chr4	40749955	40811184	4p14	4p14	617185	NSUN7	NOP2/SUN RNA methyltransferase family, member 7	NSUN7	79730	ENSG00000179299			Nsun7 (MGI:1918168)
chr4	40810027	41214542	4p14	4p14-p13	602710	APBB2, FE65L1	Amyloid beta A4 precursor protein-binding, family B, member 2 (Fe65-like 1)	APBB2	323	ENSG00000163697			Apbb2 (MGI:108405)
chr4	41200001	87100000	4p13-q21		605841	NRCLP2	Narcolepsy 2		100918		max lod at D4S2987	Narcolepsy 2, 605841 (2)	
chr4	41220074	41256727	4p14	4p13	614991	UCH1LAS	Ubiquitin carboxyl-terminal esterase L1, antisense	UCHL1-DT	101410542	ENSG00000251173			
chr4	41256928	41268455	4p14	4p13	191342	UCHL1, PARK5, SPG79, NDGOA, SPG79A	Ubiquitin C-terminal esterase L1	UCHL1	7345	ENSG00000154277	mutation identified in 1 PARK5 family	{?Parkinson disease 5, susceptibility to}, 613643 (3), Autosomal dominant; Spastic paraplegia 79A, autosomal dominant, 620221 (3), Autosomal dominant; Spastic paraplegia 79B, autosomal recessive, 615491 (3), Autosomal recessive	Uchl1 (MGI:103149)
chr4	41359607	41700044	4p13	4p13	617750	LIMCH1, LMO7B	LIM and calponin homology domains-containing protein 1	LIMCH1	22998	ENSG00000064042			Limch1 (MGI:1924819)
chr4	41744082	41748725	4p12	4p13	603851	PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS	Paired mesoderm homeobox 2B	PHOX2B	8929	ENSG00000109132		{Neuroblastoma, susceptibility to, 2}, 613013 (3); Neuroblastoma with Hirschsprung disease, 613013 (3); Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, 209880 (3), Autosomal dominant	Phox2b (MGI:1100882)
chr4	41935137	41960803	4q13	4p13	618515	TMEM33	Transmembrane protein 33	TMEM33	55161	ENSG00000109133			Tmem33 (MGI:1915128)
chr4	41990530	42090461	4p13	4p13	604604	SLC30A9, C4orf1, HUEL, BILAPES	Solute carrier family 30 (zinc transporter), member 9	SLC30A9	10463	ENSG00000014824		Birk-Landau-Perez syndrome, 617595 (3), Autosomal recessive	Slc30a9 (MGI:1923690)
chr4	42397488	42402487	4p13	4p13	617325	SHISA3	Shisa family, member 3	SHISA3	152573	ENSG00000178343			Shisa3 (MGI:3041225)
chr4	42408373	42657105	4p13	4p13	609542	ATP8A1	ATPase, class I, type 8A, member 1	ATP8A1	10396	ENSG00000124406			Atp8a1 (MGI:1330848)
chr4	42892713	43030658	4p13	4p13	613283	GRXCR1	Glutaredoxin, cysteine-rich, 1	GRXCR1	389207	ENSG00000215203		Deafness, autosomal recessive 25, 613285 (3), Autosomal recessive	Grxcr1 (MGI:3577767)
chr4	44173903	44448809	4p13	4p13	618442	KCTD8	Potassium channel tetramerization domain-containing protein 8	KCTD8	386617	ENSG00000183783			Kctd8 (MGI:2443804)
chr4	44622088	44662199	4p12	4p12	619754	YIPF7	YIP1 domain family, member 7	YIPF7	285525	ENSG00000177752			Yipf7 (MGI:1922831)
chr4	44678420	44700928	4p12	4p12	617064	GUF1, EF4, DEE40	GUF1 homolog, GTPase	GUF1	60558	ENSG00000151806	mutation identified in 1 DEE40 family	?Developmental and epileptic encephalopathy 40, 617065 (3), Autosomal recessive	Guf1 (MGI:2140726)
chr4	44701795	44726556	4p13	4p12	613222	GNPDA2, GNP2	Glucosamine-6-phosphate deaminase 2	GNPDA2	132789	ENSG00000163281			Gnpda2 (MGI:1915230)
chr4	46035769	46124054	4p14-q21.1	4p12	137166	GABRG1	Gamma-aminobutyric acid (GABA) A receptor, gamma-1	GABRG1	2565	ENSG00000163285			Gabrg1 (MGI:103156)
chr4	46243548	46390300	4p13-p12	4p12	137140	GABRA2, DEE78	Gamma-aminobutyric acid (GABA) A receptor, alpha-2	GABRA2	2555	ENSG00000151834		Developmental and epileptic encephalopathy 78, 618557 (3), Autosomal dominant; {Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial	Gabra2 (MGI:95614)
chr4	46734827	46909245	4p12	4p12	609811	COX7B2	Cytochrome C oxidase subunit VIIb2	COX7B2	170712	ENSG00000170516			Cox7b2 (MGI:1925424)
chr4	46918900	46993581	4p14-q12	4p12	137141	GABRA4	Gamma-aminobutyric acid (GABA) A receptor, alpha-4	GABRA4	2557	ENSG00000109158	cluster with GABRA2, B1, G1; ?involved in autism		Gabra4 (MGI:95616)
chr4	46993647	47426447	4p13-p12	4p12	137190	GABRB1, DEE45	Gamma-aminobutyric acid (GABA) A receptor, beta-1	GABRB1	2560	ENSG00000163288		Developmental and epileptic encephalopathy 45, 617153 (3), Autosomal dominant	Gabrb1 (MGI:95619)
chr4	47450787	47463702	4p12	4p12	616656	COMMD8	COMM domain-containing protein 8	COMMD8	54951	ENSG00000169019			Commd8 (MGI:1343485)
chr4	47485275	47593486	4p12	4p12	619815	ATP10D, KIAA1487	ATPase, phospholipid-transporting, 10D	ATP10D	57205	ENSG00000145246			Atp10d (MGI:2450125)
chr4	47594001	47838067	4p12	4p12	605236	CORIN, CRN, TMPRSS10, ATC2, PEE5, CMH30	Corin, serine peptidase	CORIN	10699	ENSG00000145244	mutation identified in 1 CMH30 family	?Cardiomyopathy, familial hypertrophic, 30, atrial, 620734 (3), Autosomal recessive; Preeclampsia/eclampsia 5, 614595 (3), Autosomal dominant	Corin (MGI:1349451)
chr4	47847233	47914667	4p12	4p12	620488	NFXL1, CDZFP	Nuclear transcription factor, X box-binding-like 1	NFXL1	152518	ENSG00000170448			Nfxl1 (MGI:1923646)
chr4	47935977	48016681	4p12-cen	4p12	123825	CNGA1, CNCG1, RP49	Cyclic nucleotide gated channel, alpha 1	CNGA1	1259	ENSG00000198515		Retinitis pigmentosa 49, 613756 (3), Autosomal recessive	Cnga1 (MGI:88436)
chr4	48016772	48040173	4p12	4p12	620340	NIPAL1, NIPA3	NIPA-like domain-containing protein 1	NIPAL1	152519	ENSG00000163293			Nipal1 (MGI:1917951)
chr4	48066393	48134250	4p12	4p12	600058	TXK, BTKL	TXK tyrosine kinase	TXK	7294	ENSG00000074966			Txk (MGI:102960)
chr4	48135783	48269838	4p12	4p12-p11	600583	TEC	tec protein tyrosine kinase	TEC	7006	ENSG00000135605			Tec (MGI:98662)
chr4	48341529	48426201	4p11	4p11	610492	SLAIN2, KIAA1458	SLAIN motif family, member 2	SLAIN2	57606	ENSG00000109171			Slain2 (MGI:1923241)
chr4	48483343	48489526	4p11	4p11	618563	SLC10A4	Solute carrier family 10 (sodium/bile acid cotransporter family), member 4	SLC10A4	201780	ENSG00000145248			Slc10a4,Slc10a4-ps (MGI:3606480,MGI:3645333)
chr4	48490252	48497635	4p11	4p11	607520	ZAR1	Zygote arrest 1	ZAR1	326340	ENSG00000182223			Zar1 (MGI:2180337)
chr4	48497357	48780279	4p12	4p11	620798	FRYL, KIAA0826, PCBS	FRY-like transcription coactivator	FRYL	285527	ENSG00000075539		Pan-Chung-Bellen syndrome, 621049 (3), Autosomal dominant	Fryl (MGI:1919563)
chr4	48805156	48861815	4p11	4p11	619596	OCIAD1, ASRIJ	OCIA domain-containing protein 1	OCIAD1	54940	ENSG00000109180			Ociad1 (MGI:1915345)
chr4	48885019	48906828	4p11	4p11	619633	OCIAD2	OCIA domain-containing protein 2	OCIAD2	132299	ENSG00000145247	tail-to-tail orientation with OCIAD1		Ociad2 (MGI:1916377)
chr4	48986275	49062079	4p11	4p11	618561	CWH43, PGAP2IP	Cell wall biogenesis protein 43 C-terminal homolog	CWH43	80157	ENSG00000109182			Cwh43 (MGI:2444131)
chr4	50000001	190214555	4q		603664	MHW2	Mental health wellness 2		50979		at D4S397	{Mental health wellness-2}, 603664 (2)	
chr4	50000001	190214555	4q		601454	PSORS3	Psoriasis susceptibility 3		7889			{Psoriasis susceptibility 3}, 601454 (2)	
chr4	50000001	190214555	4q		610430	WM2	Macroglobulinemia, Waldenstrom, susceptibility to, 2		100188811		between D4S2910 and D4S1539	{Macroglobulinemia, Waldenstrom, susceptibility to, 2}, 610430 (2)	
chr4	51800001	69400000	4q12-q13.2		609952	DFNB55	Deafness, autosomal recessive 55		494148		max lod at D4S2638	Deafness, autosomal recessive 55, 609952 (2), Autosomal recessive	
chr4	51800001	65500000	4q12-q13.1		614329	MRT31	Intellectual developmental disorder, autosomal recessive 31		100852399		between rs11944876 and rs6551838	Intellectual developmental disorder, autosomal recessive 31, 614329 (2), Autosomal recessive	
chr4	51800001	58500000	4q12		609258	MYP9	Myopia 9		553194			Myopia 9, 609258 (2), Multifactorial	
chr4	51800001	58500000	4q12		106700	TAPVR1	Total anomalous pulmonary venous return 1		6893		between D4S1630 and D4S3019; ?mutation in KDR	Total anomalous pulmonary venous return, 106700 (2), Autosomal dominant	
chr4	51833884	51916837	4q12	4q12	612977	DCUN1D4, KIAA0276	DCN1 domain-containing protein 4	DCUN1D4	23142	ENSG00000109184			Dcun1d4 (MGI:2140972)
chr4	52020706	52038299	4q12	4q12	600900	SGCB, LGMDR4	Sarcoglycan, beta (43kD dystrophin-associated glycoprotein)	SGCB	6443	ENSG00000163069		Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3), Autosomal recessive	Sgcb (MGI:1346523)
chr4	52051304	52097299	4q11-q12	4q12	612814	SPATA18, SPETEX1	Spermatogenesis-associated protein 18	SPATA18	132671	ENSG00000163071			Spata18 (MGI:1920722)
chr4	52590960	52659301	4q12	4q12	612849	USP46	Ubiquitin-specific peptidase 46	USP46	64854	ENSG00000109189			Usp46 (MGI:1916977)
chr4	52712394	52720697	4q12	4q12	614625	DANCR, ANCR, KIAA0114	Differentiation-antagonizing noncoding RNA	DANCR	57291	ENSG00000226950			Dancr (MGI:1917286)
chr4	52712682	52712747	4q12	4q12	614627	MIR4449	Micro RNA 4449	MIR4449	100616436	ENSG00000264585			
chr4	52713249	52713370	4q12	4q12	614626	SNORA26	Small nucleolar RNA, H/ACA box, 26	SNORA26	677810	ENSG00000212588			
chr4	52862317	52866835	4q12	4q12	612404	RASL11B	RAS-like, family 11, member B	RASL11B	65997	ENSG00000128045			Rasl11b (MGI:1916189)
chr4	53377641	53460862	4q12	4q12	607686	FIP1L1	Fip1-like 1	FIP1L1	81608	ENSG00000145216	fused to PDGFRA in hypereosinophilic syndrome		Fip1l1 (MGI:1914149)
chr4	53459301	53652477	4q12	4q12	609732	LNX1, LNX, PDZRN2	Ligand of numb protein X1	LNX1	84708	ENSG00000072201			Lnx1 (MGI:1278335)
chr4	54009789	54091879	4q11-q12	4q12	604332	CHIC2, BTL	Cysteine-rich hydrophobic domain 2 (Brx-like gene translocated in leukemia)	CHIC2	26511	ENSG00000109220		{Leukemia, acute myeloid}, 601626 (3), Somatic mutation, Autosomal dominant	Chic2 (MGI:1921527)
chr4	54100163	54102498	4q12	4q12	616253	GSX2, GSH2, DMJDS2	GS homeobox 2	GSX2	170825	ENSG00000180613		Diencephalic-mesencephalic junction dysplasia syndrome 2, 618646 (3), Autosomal recessive	Gsx2 (MGI:95843)
chr4	54229293	54298245	4q12	4q12	173490	PDGFRA	Platelet-derived growth factor receptor, alpha polypeptide	PDGFRA	5156	ENSG00000134853	same 700bp segment as KIT; fused to BCR or FIP1L1	Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, 175510 (3); Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3), Somatic mutation, Isolated cases	Pdgfra (MGI:97530)
chr4	54657957	54740715	4q12	4q12	164920	KIT, PBT, MASTC	Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene	KIT	3815	ENSG00000157404	same 700bp segment as PDGFRA	Gastrointestinal stromal tumor, familial, 606764 (3), Autosomal dominant, Isolated cases; Mastocytosis, cutaneous, 154800 (3), Autosomal dominant; Piebaldism, 172800 (3), Autosomal dominant; Germ cell tumors, somatic, 273300 (3); Mastocytosis, systemic, somatic, 154800 (3); Leukemia, acute myeloid, somatic, 601626 (3)	Kit (MGI:96677)
chr4	55078481	55125595	4q12	4q12	191306	KDR	Kinase insert domain receptor	KDR	3791	ENSG00000128052	?mutant in TAPVR1	{Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant; Hemangioma, capillary infantile, somatic, 602089 (3)	Kdr (MGI:96683)
chr4	55346242	55373100	4q12	4q12	611715	SRD5A3, SRD5A2L, CDG1Q, KRIZI	Steroid 5-alpha-reductase 3	SRD5A3	79644	ENSG00000128039		Kahrizi syndrome, 612713 (3), Autosomal recessive; Congenital disorder of glycosylation, type Iq, 612379 (3), Autosomal recessive	Srd5a3 (MGI:1930252)
chr4	55395957	55453397	4q12	4q12	614726	TMEM165, FT27, CDG2K	Transmembrane protein 165	TMEM165	55858	ENSG00000134851		Congenital disorder of glycosylation, type IIk, 614727 (3), Autosomal recessive	Tmem165 (MGI:894407)
chr4	55427903	55546909	4q12	4q12	601851	CLOCK	Circadian locomotor output cycles kaput	CLOCK	9575	ENSG00000134852			Clock (MGI:99698)
chr4	55556519	55592245	4q11	4q12	611676	PDCL2	Phosducin-like 2	PDCL2	132954	ENSG00000163440			Pdcl2 (MGI:1890655)
chr4	55595231	55636793	4q12	4q12	605103	NMU	Neuromedin U	NMU	10874	ENSG00000109255			Nmu (MGI:1860476)
chr4	55853648	55905086	4q12	4q12	607879	EXOC1, SEC3	Exocyst complex component 1	EXOC1	55763	ENSG00000090989			Exoc1 (MGI:2445020)
chr4	55948945	56033361	4q12	4q12	611423	CEP135, KIAA0635, MCPH8	Centrosomal protein, 135kD	CEP135	9662	ENSG00000174799		Microcephaly 8, primary, autosomal recessive, 614673 (3), Autosomal recessive	Cep135 (MGI:2681869)
chr4	56049098	56330609	4q12	4q12	618327	CRACD, KIAA1211	Capping protein inhibiting regulator of actin dynamics	CRACD	57482	ENSG00000109265			Cracd (MGI:2444817)
chr4	56338290	56387491	4q12	4q12	614365	AASDH, ACSF4	Aminoadipate-semialdehyde dehydrogenase	AASDH	132949	ENSG00000157426			Aasdh (MGI:2442517)
chr4	56393362	56435615	4q12	4q12	172450	PPAT, GPAT	Phosphoribosylpyrophosphate amidotransferase	PPAT	5471	ENSG00000128059			Ppat (MGI:2387203)
chr4	56410507	56464578	4q12	4q12	172439	PAICS, AIRC, PAICSD	Phosphoribosylaminoimidazole carboxylase	PAICS	10606	ENSG00000128050	bifunctional enzyme; mutation identified in 1 PAICSD family	?Phosphoribosylaminoimidazole carboxylase deficiency, 619859 (3), Autosomal recessive	Paics (MGI:1914304)
chr4	56467617	56503681	4q12	4q12	602122	SRP72, BMFS1	Signal recognition particle, 72kD	SRP72	6731	ENSG00000174780		Bone marrow failure syndrome 1, 614675 (3), Autosomal dominant	Srp72 (MGI:1333795)
chr4	56505209	56524453	4q12	4q12	612405	ARL9	ADP ribosylation factor-like GTPase 9	ARL9	132946	ENSG00000196503			Arl9 (MGI:1915496)
chr4	56647998	56681706	4q11-q12	4q12	607275	HOPX, HOP	HOP homeobox	HOPX	84525	ENSG00000171476			Hopx (MGI:1916782)
chr4	56809860	56821869	4q12	4q12	605753	SPINK2, SPGF29	Serine protease inhibitor, Kazal-type, 2	SPINK2	6691	ENSG00000128040	mutation identified in 1 SPGF29 family	?Spermatogenic failure 29, 618091 (3), Autosomal recessive	Spink2 (MGI:1917232)
chr4	56907900	56935844	4q12	4q12	600571	REST, NRSF, WT6, GINGF5, HGF5, DFNA27	RE1-silencing transcription factor	REST	5978	ENSG00000084093		Deafness, autosomal dominant 27, 612431 (3), Autosomal dominant; {Wilms tumor 6, susceptibility to}, 616806 (3), Autosomal dominant; Fibromatosis, gingival, 5, 617626 (3), Autosomal dominant	Rest (MGI:104897)
chr4	56963350	56977606	4q12	4q12	614919	NOA1, C4orf14	Nitric oxide-associated protein 1	NOA1	84273	ENSG00000084092			Noa1 (MGI:1914306)
chr4	56978896	57031158	4q12	4q12	180661	POL2RB	Polymerase (RNA) II (DNA directed) polypeptide B, 140kD	POLR2B	5431	ENSG00000047315			Polr2b (MGI:2388280)
chr4	57030773	57110385	4q12	4q12	602867	IGFBP7, MAC25, RAMSVPS	Insulin-like growth factor-binding protein-7	IGFBP7	3490	ENSG00000163453		Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3), Autosomal recessive	Igfbp7 (MGI:1352480)
chr4	58500001	87100000	4q13-q21		609400	AIS4, VAMAS5	Autoimmune disease, susceptibility to, 4		619405		between D4S392 and D4S3042	{Autoimmune disease, susceptibility to, 4}, 609400 (2)	
chr4	61200326	62078335	4q13.1	4q13.1	616417	ADGRL3, LPHN3, CIRL3, CL3, LEC3, KIAA0768	Adhesion G protein-coupled receptor L3	ADGRL3	23284	ENSG00000150471			Adgrl3 (MGI:2441950)
chr4	64276298	64409460	4q13.1	4q13.1	617242	TECRL, TERL, SRD5A2L2, GPSN2L, CPVT3	Trans-2,3-enoyl-CoA reductase-like protein	TECRL	253017	ENSG00000205678		Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3), Autosomal recessive	Tecrl (MGI:2444966)
chr4	65319567	65670489	4q13	4q13.1-q13.2	600004	EPHA5, TYRO4, HEK7	Ephrin receptor EphA5	EPHA5	2044	ENSG00000145242			Epha5 (MGI:99654)
chr4	65500001	87100000	4q13.2-q21.3		611630	ETL3, FMTLE	Epilepsy, familial temporal lobe, 3		100188848		max lod at D4S1517	Epilepsy, familial temporal lobe, 3, 611630 (2), Autosomal dominant	
chr4	67468762	67545503	4q12-q13.3	4q13.2	117141	CENPC1, CENPC	Centromere autoantigen C1	CENPC	1060	ENSG00000145241	?pseudogene on chr.12		Cenpc1 (MGI:99700)
chr4	67558727	67607337	4q13.2	4q13.2	604298	STAP1, BRDG1	Signal transducing adaptor family member 1	STAP1	26228	ENSG00000035720			Stap1 (MGI:1926193)
chr4	67612652	67701155	4q13.2	4q13.2	611361	UBA6, UBE1L2	Ubiquitin-like modifier activating enzyme 6	UBA6	55236	ENSG00000033178			Uba6 (MGI:1913894)
chr4	67737118	67754388	4q21.2	4q13.2	138850	GNRHR, LHRHR, HH7	Gonadotropin-releasing hormone receptor	GNRHR	2798	ENSG00000109163	placed at 4q12 or 4q13 by some	Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3), Autosomal recessive	Gnrhr (MGI:95790)
chr4	67820876	67884002	4q13.2	4q13.2	605369	TMPRSS11D, HAT	Transmembrane protease, serine 11D	TMPRSS11D	9407	ENSG00000153802			Tmprss11d (MGI:2385221)
chr4	67909395	67963493	4q13.2	4q13.2	611704	TMPRSS11A, ECRG1	Transmembrane protease, serine 11A	TMPRSS11A	339967	ENSG00000187054			Tmprss11a (MGI:2684853)
chr4	68038416	68042511	4q12	4q13.2	608311	GCOM2, GRINL1B	GRINL1B complex locus 2	POLR2MP1	339970				
chr4	68060610	68063297	4q13.2	4q13.2	610892	SYT14L, SYTDEP, CHR415SYT	Synaptotagmin 14-like protein	SYT14P1	401135				
chr4	68310387	68350090	4q13.2	4q13.2	617283	YTHDC1, KIAA1966	TYH domain-containing protein 1	YTHDC1	91746	ENSG00000083896			Ythdc1 (MGI:2443713)
chr4	68447463	68497604	4q13.2	4q13.2	610399	TMPRSS11E, DESC1	Transmembrane protease, serine 11E	TMPRSS11E	28983	ENSG00000087128			Tmprss11e (MGI:3513175)
chr4	68537173	68576322	4q13	4q13.2	601903	UGT2B17, BMND12	UDP-glucuronyltransferase, family 2, beta-17	UGT2B17	7367	ENSG00000197888		{Bone mineral density QTL 12, osteoporosis}, 612560 (3)	Ugt2b1 (MGI:1919023)
chr4	68646597	68670652	4q13	4q13.2	600069	UGT2B15, UGT2B8	UDP-glucuronyltransferase, family 2, beta-15	UGT2B15	7366	ENSG00000196620			Ugt2b1 (MGI:1919023)
chr4	68815994	68832023	4q13.2	4q13.2	600070	UGT2B10	Uridine diphosphate glycosyltransferase 2 family, member B10	UGT2B10	7365	ENSG00000109181			Ugt2b1,Ugt2b34 (MGI:1919023,MGI:2140962)
chr4	68928463	68951804	4q13	4q13.2	616382	UGT2A3	UDP glucuronosyltransferase 2 family, member A3	UGT2A3	79799	ENSG00000135220			Ugt2a3 (MGI:1919344)
chr4	69051375	69112987	4q13	4q13.2	600068	UGT2B7, UGT2B9	UDP-glucuronyltransferase, family 2, beta-7	UGT2B7	7364	ENSG00000171234			Ugt2b1,Ugt2b35,Ugt2b36 (MGI:1919023,MGI:3576100,MGI:3576103)
chr4	69199951	69224984	4q13.2	4q13.2	603064	UGT2B11	Uridine diphosphate glycosyltransferase 2 family, member B11	UGT2B11	10720	ENSG00000213759			Ugt2b1 (MGI:1919023)
chr4	69280475	69295050	4q13.2	4q13.2	606497	UGT2B28	Uridine diphosphate glycosyltransferase 2 family, member B28	UGT2B28	54490	ENSG00000135226			Ugt2b1,Ugt2b37,Ugt2b38,Ugt2b5 (MGI:1919023,MGI:2140794,MGI:2148239,MGI:98900)
chr4	69480165	69526014	4q13	4q13.3	600067	UGT2B4, UGT2B11	UDP-glucuronyltransferase, family 2, beta-4	UGT2B4	7363	ENSG00000156096	cluster in order B7--B4--B15 in 195kb		Ugt2b1 (MGI:1919023)
chr4	69588417	69653247	4q13	4q13.3	604716	UGT2A1	Uridine diphosphate glycosyltransferase 2 family, member A1	UGT2A1	10941	ENSG00000173610			Ugt2a1 (MGI:2149905)
chr4	69588417	69639642	4q13	4q13.3	619809	UGT2A2	UDP glucuronosyltransferase family 2, member A2	UGT2A2	574537	ENSG00000271271			Ugt2a2 (MGI:3576095)
chr4	69721167	69760620	4q13.3	4q13.3	608436	SULT1B1, ST1B2	Sulfotransferase family 1B, member 1	SULT1B1	27284	ENSG00000173597			Sult1b1 (MGI:2136282)
chr4	69821122	69860145	4q13.1	4q13.3	600043	STE, EST	Sulfotransferase, estrogen-preferring	SULT1E1	6783	ENSG00000109193			Sult1e1 (MGI:98431)
chr4	69931068	69946574	4q21.1	4q13.3	115450	CSN1	Casein, alpha	CSN1S1	1446	ENSG00000126545			Csn1s1 (MGI:88540)
chr4	69955256	69965728	4q21.1	4q13.3	115460	CSN2	Casein, beta	CSN2	1447	ENSG00000135222			Csn2 (MGI:88541)
chr4	69995966	70002570	4q11-q13	4q13.3	184470	STATH	Statherin	STATH	6779	ENSG00000126549			
chr4	70028459	70036538	4q13	4q13.3	142702	HTN3, HTN2, HIS2	Histatin-3	HTN3	3347	ENSG00000205649			
chr4	70050438	70058848	4q13	4q13.3	142701	HTN1	Histatin-1	HTN1	3346	ENSG00000126550	3 genes in a 15kb segment		
chr4	70195725	70204576	4q13.3	4q13.3	614843	ODAM, APIN	Odontogenic ameloblast-associated protein	ODAM	54959	ENSG00000109205			Odam (MGI:1916842)
chr4	70226124	70235252	4q13.3	4q13.3	607241	FDCSP, C4orf7	Follicular dendritic cell secreted protein	FDCSP	260436	ENSG00000181617			
chr4	70238381	70251432	4q13-q21	4q13.3	601695	CSN3, CNS10, CSNK	Casein, kappa	CSN3	1448	ENSG00000171209			Csn3 (MGI:107461)
chr4	70334981	70337116	14q13.3	4q13.3	618600	CABS1, CLPH, C4orf35	Calcium-binding protein, spermatid-associated 1	CABS1	85438	ENSG00000145309			Cabs1 (MGI:1918227)
chr4	70360760	70367158	4q13.3	4q13.3	618340	SMR3A, PBI	Submaxillary gland androgen-regulated protein 3A	SMR3A	26952	ENSG00000109208			Smr3a (MGI:102763)
chr4	70383131	70390244	4q13.3	4q13.3	611593	SMR3B, SMR1B, PRL3, PBII	Submaxillary gland androgen-regulated protein 3B	SMR3B	10879	ENSG00000171201			Smr2,Smr2l (MGI:102762,MGI:3646267)
chr4	70397940	70410195	4q13.3	4q13.3	608936	OPRPN, PROL1, PRL1, BPLP	Opiorphin prepropeptide	OPRPN	58503	ENSG00000171199			
chr4	70430492	70482997	4q13-q21	4q13.3	158375	MUC7	Mucin 7, salivary	MUC7	4589	ENSG00000171195		{Asthma, protection against}, 600807 (3), Autosomal dominant	
chr4	70518569	70532743	4q13.3	4q13.3	610912	AMTN, AI3B	Amelotin	AMTN	401138	ENSG00000187689	mutation identified in 1 AI3B family	?Amelogenesis imperfecta, type IIIB, 617607 (3), Autosomal dominant	Amtn (MGI:1918671)
chr4	70592256	70607288	4q21	4q13.3	601259	AMBN, AI1F	Ameloblastin	AMBN	258	ENSG00000178522	mutation identified in 1 AI1F family	Amelogenesis imperfecta, type IF, 616270 (3), Autosomal recessive	Ambn (MGI:104655)
chr4	70628744	70646824	4q21	4q13.3	606585	ENAM, AIH2, AI1C	Enamelin	ENAM	10117	ENSG00000132464		Amelogenesis imperfecta, type IC, 204650 (3), Autosomal recessive; Amelogenesis imperfecta, type IB, 104500 (3), Autosomal dominant	Enam (MGI:1333772)
chr4	70655541	70666508	4q21	4q13.3	147790	JCHAIN, IGJ	Joining chain of multimeric IgA and IgM	JCHAIN	3512	ENSG00000132465			Jchain (MGI:96493)
chr4	70688532	70690551	4q21	4q13.3	611614	UTP3, CRL1, CRLZ1	UTP3 small subunit processome component	UTP3	57050	ENSG00000132467			Utp3 (MGI:1919230)
chr4	70703767	70808619	4q13.3	4q13.3	611194	RUFY3, SINGAR1, RIPX	FUN and FYVE domains-containing protein 3	RUFY3	22902	ENSG00000018189			Rufy3 (MGI:106484)
chr4	70815783	70843235	4q13	4q13.3	604851	GRSF1	G-rich RNA sequence-binding factor 1	GRSF1	2926	ENSG00000132463			Grsf1 (MGI:106479)
chr4	70901851	70988168	4q13.3	4q13.3	609282	MOB1B, MOBKL1A, MATS2	MOB kinase activator 1B	MOB1B	92597	ENSG00000173542			Mob1b (MGI:1915723)
chr4	70993649	71030914	4q13.3-q21.1	4q13.3	125450	DCK	Deoxycytidine kinase	DCK	1633	ENSG00000156136			Dck (MGI:102726)
chr4	71062660	71572083	4q21	4q13.3	603345	SLC4A4, NBC1, KNBC, PRTAO	Solute carrier family 4, sodium bicarbonate cotransporter, member 4	SLC4A4	8671	ENSG00000080493		Proximal renal tubular acidosis-ocular anomaly syndrome, 604278 (3), Autosomal recessive	Slc4a4 (MGI:1927555)
chr4	71741693	71805520	4q12	4q13.3	139200	GC, DBP	Group-specific component (vitamin D-binding protein)	GC	2638	ENSG00000145321	4q13-q21.1 by in situ hybridization		Gc (MGI:95669)
chr4	72032000	72148305	4q13.3	4q13.3	607449	NPFFR2, GPR74, NPFF2, NPGPR	Neuropeptide FF receptor 2	NPFFR2	10886	ENSG00000056291			Npffr2 (MGI:1860130)
chr4	72280969	72569221	4q21	4q13.3	605011	ADAMTS3, HKLLS3	ADAM metallopeptidase with thrombospondin type 1 motif, 3	ADAMTS3	9508	ENSG00000156140		Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3), Autosomal recessive	Adamts3 (MGI:3045353)
chr4	73052362	73069759	4q21.1	4q13.3	610428	COX18	Cytochrome c oxidase assembly protein COX18	COX18	285521	ENSG00000163626			Cox18 (MGI:2448532)
chr4	73073376	73258798	4q13.3	4q13.3	615929	ANKRD17, GTAR, CAGS	Ankyrin repeat domain-containing protein 17	ANKRD17	26057	ENSG00000132466		Chopra-Amiel-Gordon syndrome, 619504 (3), Autosomal dominant	Ankrd17 (MGI:1932101)
chr4	73404287	73421482	4q11-q13	4q13.3	103600	ALB, ANALBA, FDAH, FDAHT	Albumin	ALB	213	ENSG00000163631	mutation identified in 1 FDAHT family	?[Dysalbuminemic hypertriiodothyroninemia], 615999 (3), Autosomal recessive, Autosomal dominant; Analbuminemia, 616000 (3), Autosomal recessive; [Dysalbuminemic hyperthyroxinemia], 615999 (3), Autosomal recessive, Autosomal dominant	Alb (MGI:87991)
chr4	73436221	73456174	4q11-q13	4q13.3	104150	AFP, HPAFP, AFPD	Alpha-fetoprotein	AFP	174	ENSG00000081051	order: 5'-ALB-3'--5'-AFP-3'	[Hereditary persistence of alpha-fetoprotein], 615970 (3), Autosomal dominant; Alpha-fetoprotein deficiency, 615969 (3), Autosomal recessive	Afp (MGI:87951)
chr4	73481745	73504001	4q11-q13	4q13.3	104145	AFM, ALBA, ALB2	Afamin	AFM	173	ENSG00000079557	10kb 3' of AFP		Afm (MGI:2429409)
chr4	73571550	73620631	4q13.3	4q13.3	612620	RASSF6	Ras association domain family, member 6	RASSF6	166824	ENSG00000169435			Rassf6 (MGI:1920496)
chr4	73740569	73743716	4q13.3	4q13.3	146930	CXCL8, IL8, SCYB8, NAP1, GCP1	Chemokine, CXC motif, ligand 8	CXCL8	3576	ENSG00000169429			
chr4	73836678	73838760	4q12-q13	4q13.3	138965	CXCL6, SCYB6, GCP2	Chemokine, C-X-C motif, ligand 6 (granulocyte chemotactic protein-2)	CXCL6	6372	ENSG00000124875			Cxcl5 (MGI:1096868)
chr4	73848736	73849253	4q12-q13	4q13.3	188035	PPBPP1, PPBPL1, TGB2	Pro-platelet basic protein pseudogene 1	PPBPP1	728045				
chr4	73853296	73854483	4q12-q13	4q13.3	173461	PF4V1	Platelet factor 4, variant 1 (PF4-like)	PF4V1	5197	ENSG00000109272	same region as PF4 and IP10		Pf4 (MGI:1888711)
chr4	73869393	73871308	4q12-q13	4q13.3	155730	CXCL1, GRO1, MGSA	Chemokine, C-X-C, ligand 1 (GRO1 oncogene; melanoma growth stimulating activity, alpha)	CXCL1	2919	ENSG00000163739	apparently cluster of 3 GRO genes		Cxcl1,Cxcl2,Cxcl3 (MGI:108068,MGI:1340094,MGI:3037818)
chr4	73980811	73982124	4q12-q13	4q13.3	173460	PF4	Platelet factor 4	PF4	5196	ENSG00000163737	6kb from PF4V1		Pf4 (MGI:1888711)
chr4	73986439	73988190	4q12-q13	4q13.3	121010	PPBP, CXCL7, SCYB7, CTAP3, TGB	Pro-platelet basic protein	PPBP	5473	ENSG00000163736	less than 7kb from PF4		Ppbp (MGI:1888712)
chr4	73995642	73998677	4q12-q13	4q13.3	600324	CXCL5, SCYB5, ENA78	Chemokine, C-X-C motif, ligand 5 (epithelial-derived neutrophil-activating peptide 78)	CXCL5	6374	ENSG00000163735			Cxcl5 (MGI:1096868)
chr4	74036589	74038689	4q12-q13	4q13.3	139111	CXCL3, GRO3, MIP2B	Chemokine, C-X-C motif, ligand 3 (GRO3 oncogene)	CXCL3	2921	ENSG00000163734			Cxcl2,Cxcl3 (MGI:1340094,MGI:3037818)
chr4	74054038	74055399	4q13.3	4q13.3	611591	PPBPP2, PPBPL2	Pro-platelet basic protein pseudogene 2	PPBPP2	10895	ENSG00000290910			
chr4	74097040	74099195	4q12-q13	4q13.3	139110	CXCL2, GRO2, MIP2A	Chemokine, C-X-C motif, ligand 2 (GRO2 oncogene)	CXCL2	2920	ENSG00000081041			Cxcl1,Cxcl2,Cxcl3 (MGI:108068,MGI:1340094,MGI:3037818)
chr4	74114560	74303099	4q13.3	4q13.3	614047	MTHFD2L	Methylenetetrahydrofolate dehydrogenase 2-like, NADP(+)-dependent	MTHFD2L	441024	ENSG00000163738			Mthfd2l (MGI:1915871)
chr4	74308470	74316789	4q21	4q13.3	618717	EPGN, EPG	Epithelial mitogen	EPGN	255324	ENSG00000182585			Epgn (MGI:1919170)
chr4	74365145	74388749	4q13.3	4q13.3	602061	EREG	Epiregulin	EREG	2069	ENSG00000124882			Ereg (MGI:107508)
chr4	74445136	74455005	4q13-q21	4q13.3	104640	AREG	Amphiregulin	AREG	374	ENSG00000109321			Areg (MGI:88068)
chr4	74744759	74794523	4q13-q21	4q13.3	600345	BTC	Betacellulin	BTC	685	ENSG00000174808	tightly linked to Areg in mouse		Btc (MGI:99439)
chr4	74933116	75050113	4q13.3	4q13.3	617688	PARM1, CIPAR1	Prostate androgen-regulated mucin-like protein 1	PARM1	25849	ENSG00000169116			Parm1 (MGI:2443349)
chr4	75300001	87100000	4q21		613509	DEL4q21, C4DELq21	Chromosome 4q21 deletion syndrome				contiguous gene deletion if at least 30 genes	Chromosome 4q21 deletion syndrome, 613509 (4), Isolated cases	
chr4	75300001	113200000	4q21-q25		134720	FECB	Fecundity gene, Boorla, of sheep, homolog of		7892		sheep chr.6		
chr4	75300001	154600000	4q21-q31		608371	OFC4	Orofacial cleft 4		474387			Orofacial cleft 4, 608371 (2)	
chr4	75300001	100100000	4q21-q23		609566	PFM3	Parietal foramina 3		619475		maximum lod between D4S2986 and D4S421	Parietal foramina 3, 609566 (2), Autosomal dominant	
chr4	75479033	75514715	4q21.1	4q21.1	607680	RCHY1, ZNF363, PIRH2, ARNIP	RING finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	RCHY1	25898	ENSG00000163743			Rchy1 (MGI:1915348)
chr4	75513908	75547328	4q21.1	4q21.1	612535	THAP6	THAP domain-containing protein 6	THAP6	152815	ENSG00000174796			
chr4	75556066	75565893	4q21.1	4q21.1	614829	ODAPH, C4orf26	Odontogenesis-associated phosphoprotein	ODAPH	152816	ENSG00000174792		Amelogenesis imperfecta, type IIA4, 614832 (3), Autosomal recessive	Odaph (MGI:2685891)
chr4	75576496	75630528	4q21.1	4q21.1	603442	CDKL2, KKIAMRE, P56	Cyclin-dependent kinase-like 2	CDKL2	8999	ENSG00000138769			Cdkl2 (MGI:1858227)
chr4	75642786	75724437	4q21.1	4q21.1	620020	G3BP2	G3BP stress granule assembly factor 2	G3BP2	9908	ENSG00000138757			G3bp2 (MGI:2442040)
chr4	75724577	75814286	4q21.1	4q21.1	603344	USO1, TAP, p115	USO1 vesicle transport factor	USO1	8615	ENSG00000138768			Uso1 (MGI:1929095)
chr4	75859867	75902452	4q21.1	4q21.1	602256	PPEF2	Protein phosphatase, EF hand calcium-binding domain-2	PPEF2	5470	ENSG00000156194			Ppef2 (MGI:1342304)
chr4	75910655	75941013	4q21.1	4q21.1	607469	NAAA, ASAHL	N-acylethanolamine acid amidase	NAAA	27163	ENSG00000138744			Naaa (MGI:1914361)
chr4	76001275	76007509	4q21	4q21.1	601704	CXCL9, MIG, SCYB9	Chemokine, C-X-C motif, ligand 9	CXCL9	4283	ENSG00000138755	close to INP10		Cxcl9 (MGI:1352449)
chr4	76011190	76112786	4q21.1	4q21.1	603086	ART3	ADP-ribosyltransferase 3	ART3	419	ENSG00000156219			Art3 (MGI:1202729)
chr4	76021118	76023497	4q21	4q21.1	147310	CXCL10, INP10	Chemokine, C-X-C motif, ligand 10 (interferon-inducible cytokine IP-10)	CXCL10	3627	ENSG00000169245	?involved in monocytic leukemia with t(4;11)(q21;q23)		Cxcl10 (MGI:1352450)
chr4	76033682	76036070	4q21.2	4q21.1	604852	CXCL11, SCYB11, IP9, SCYB9B	Chemokine, C-X-C motif, ligand 11	CXCL11	6373	ENSG00000169248			Cxcl11 (MGI:1860203)
chr4	76114664	76148397	4q21.1	4q21.1	607607	NUP54, DYT37	Nucleoporin, 54kD	NUP54	53371	ENSG00000138750		Dystonia 37, early-onset, with striatal lesions, 620427 (3), Autosomal recessive	Nup54 (MGI:1920460)
chr4	76158737	76234532	4q13-q21	4q21.1	602257	SCARB2, CD36L2, LIMPII, AMRF, EPM4	Scavenger receptor class B, member 2	SCARB2	950	ENSG00000138760		Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3), Autosomal recessive	Scarb2 (MGI:1196458)
chr4	76306733	76311130	4q25-q34	4q21.1	607406	GENEX3414	Genethonin 1	STBD1	8987	ENSG00000118804			Stbd1 (MGI:1261768)
chr4	76435229	76783253	4q21.1	4q21.1	604570	SHROOM3, SHRM, KIAA1481	Shroom family member 3	SHROOM3	57619	ENSG00000138771			Shroom3 (MGI:1351655)
chr4	76949752	77040154	4q21.1	4q21.1	612887	SEPT11	Septin 11	SEPTIN11	55752	ENSG00000138758			Septin11 (MGI:1277214)
chr4	77047155	77075989	4q21.1	4q21.1	618783	CCNI	Cyclin I	CCNI	10983	ENSG00000118816			Ccni (MGI:1341077)
chr4	77157207	77170060	4q21.1	4q21.1	603203	CCNG2	Cyclin G2	CCNG2	901	ENSG00000138764			Ccng2 (MGI:1095734)
chr4	77511753	77611834	4q21	4q21.1	605149	CXCL13, SCYB13, BCA1, BLC	Chemokine, C-X-C motif, ligand 13	CXCL13	10563	ENSG00000156234			Cxcl13 (MGI:1888499)
chr4	77713387	77820269	4q21.1	4q21.1	618069	CNOT6L, CCR4B	CCR4-NOT transcription complex, subunit 6-like	CNOT6L	246175	ENSG00000138767			Cnot6l (MGI:2443154)
chr4	77862830	77952785	4q21.1	4q21.1	611821	MRPL1	Mitochondrial ribosomal protein L1	MRPL1	65008	ENSG00000169288			Mrpl1 (MGI:2137202)
chr4	78057323	78544269	4q21	4q21.21	607830	FRAS1, FRASRS1	Fraser extracellular matrix complex subunit 1	FRAS1	80144	ENSG00000138759		Fraser syndrome 1, 219000 (3), Autosomal recessive	Fras1 (MGI:2385368)
chr4	78551770	78610447	4q21	4q21.21	106490	ANXA3, ANX3	Annexin A3 (lipocortin III)	ANXA3	306	ENSG00000138772			Anxa3 (MGI:1201378)
chr4	78776350	78916365	4q21.21	4q21.21	617648	BMP2K, BIKE	BMP2-inducible kinase	BMP2K	55589	ENSG00000138756			Bmp2k (MGI:2155456)
chr4	78887076	78939438	4q21.21	4q21.21	614577	PAQR3, RKTG	Progestin and ADIPOQ receptor family, member 3	PAQR3	152559	ENSG00000163291			Paqr3 (MGI:2679683)
chr4	79155376	79326061	4q21.23	4q21.21	619432	NAA11, ARD2, ARD1B	N-alpha-acetyltransferase 11, NatA catalytic subunit	NAA11	84779	ENSG00000156269			Naa11,Naa12 (MGI:2141314,MGI:3833940)
chr4	79406361	79408228	4q21.21	4q21.21	600148	GK2, GKTA, GKP2	Glycerol kinase 2	GK2	2712	ENSG00000196475			Gk2 (MGI:1329027)
chr4	79827471	79863247	4q21.1	4q21.21	609717	PCAT4, GDEP	Prostate cancer-associated transcript 4	PCAT4	118425	ENSG00000251321			
chr4	79901146	80073472	4q21	4q21.21	608041	ANTXR2, CMG2, HFS	Anthrax toxin receptor 2	ANTXR2	118429	ENSG00000163297		Hyaline fibromatosis syndrome, 228600 (3), Autosomal recessive	Antxr2 (MGI:1919164)
chr4	80185270	80204329	4q21.21	4q21.21	616639	PRDM8, EPM10	PR domain-containing protein 8	PRDM8	56978	ENSG00000152784	mutation identified in 1 EPM10 family	?Epilepsy, progressive myoclonic, 10, 616640 (3), Autosomal recessive	Prdm8 (MGI:1924880)
chr4	80266588	80291017	4q21	4q21.21	165190	FGF5, TCMGLY	Fibroblast growth factor-5	FGF5	2250	ENSG00000138675		Trichomegaly, 190330 (3), Autosomal recessive	Fgf5 (MGI:95519)
chr4	81030708	81057627	4p14-q21	4q21.21	112263	BMP3	Bone morphogenetic protein-3	BMP3	651	ENSG00000152785			Bmp3 (MGI:88179)
chr4	81087370	81217836	4q13.1-q21.1	4q21.21	601591	PRKG2, PRKGR2, AMD4, SMDP	Protein kinase, cGMP-dependent, type II	PRKG2	5593	ENSG00000138669	mutation identified in 1 SMDP family	Spondylometaphyseal dysplasia, Pagnamenta type, 619638 (3), Autosomal recessive; Acromesomelic dysplasia 4, 619636 (3), Autosomal recessive	Prkg2 (MGI:108173)
chr4	81426393	81471907	4q12-q21	4q21.21	614532	RASGEF1B, GPIG4	RASGEF domain family, member 1B	RASGEF1B	153020	ENSG00000138670			Rasgef1b (MGI:2443755)
chr4	82352498	82373991	4q21.1-q21.2	4q21.22	601324	HNRPD, AUF1, AUF1A	Heterogeneous nuclear ribonucleoprotein D	HNRNPD	3184	ENSG00000138668			Hnrnpd (MGI:101947)
chr4	82422564	82430462	4q21.33	4q21.22	607137	HNRNPDL, HNRPDL, JKTBP, LGMDD3	Heterogeneous nuclear ribonucleoprotein D-like protein	HNRNPDL	9987	ENSG00000152795		Muscular dystrophy, limb-girdle, autosomal dominant 3, 609115 (3), Autosomal dominant	Hnrnpdl (MGI:1355299)
chr4	82483176	82562253	4q21.22	4q21.22	617292	TMEM150C, TTN3	Transmembrane protein 150C	TMEM150C	441027	ENSG00000249242			Tmem150c (MGI:3041258)
chr4	82629539	82798796	4q21.1	4q21.22	608370	SCD5, ACOD4, DFNA79	Stearoyl-CoA desaturase 5	SCD5	79966	ENSG00000145284	mutation identified in 1 DFNA79 family	?Deafness, autosomal dominant 79, 619086 (3), Autosomal dominant	
chr4	82818509	82900569	4q21.22	4q21.22	610257	SEC31A, SEC31L1, KIAA0905, NEDSOSB, HPBKS	SEC31 homolog A, COPII coat complex component	SEC31A	22872	ENSG00000138674	mutation identified in 1 NEDSOSB family	?Halperin-Birk syndrome, 618651 (3), Autosomal recessive	Sec31a (MGI:1916412)
chr4	82900735	82919969	4q21.22	4q21.22	612537	THAP9	THAP domain-containing protein 9	THAP9	79725	ENSG00000168152			
chr4	82924603	83012941	4q21.22	4q21.22	613367	LIN54	lin-54 DREAM MuvB core complex component	LIN54	132660	ENSG00000189308			Lin54 (MGI:2140902)
chr4	83035183	83075818	4q21.22	4q21.22	616008	COPS4, CSN4	COP9 signalosome, subunit 4	COPS4	51138	ENSG00000138663			Cops4 (MGI:1349414)
chr4	83090048	83114729	4q21	4q21.22	607515	PLAC8	Placenta-specific gene 8	PLAC8	51316	ENSG00000145287			Plac8 (MGI:2445289)
chr4	83263824	83285134	4q21-q22	4q21.23	609825	COQ2, COQ10D1, MSA1	Coenzyme Q2, polyprenyltransferase	COQ2	27235	ENSG00000173085		{Multiple system atrophy, susceptibility to}, 146500 (3), Autosomal recessive, Autosomal dominant; Coenzyme Q10 deficiency, primary, 1, 607426 (3), Autosomal recessive	Coq2 (MGI:1919133)
chr4	83292461	83335153	4q21.3	4q21.23	604724	HPSE, HSE1, HPA	Heparanase	HPSE	10855	ENSG00000173083			Hpse (MGI:1343124)
chr4	83407346	83455883	4q21.23	4q21.23	606769	HELQ, HEL308	Helicase, POLQ-like	HELQ	113510	ENSG00000163312			Helq (MGI:2176740)
chr4	83456058	83462298	4q21.23	4q21.23	611983	MRPS18C, MRPS18-1	Mitochondrial ribosomal protein S18C	MRPS18C	51023	ENSG00000163319	6 pseudogenes		Mrps18c (MGI:1915985)
chr4	83459517	83485100	4q21.2	4q21.23	611143	ABRASAS1, FAM175A, CCDC98, ABRA1	Abraxas 1, BRCA1 A complex subunit	ABRAXAS1	84142	ENSG00000163322			Abraxas1 (MGI:1917931)
chr4	83535587	83605875	4q21.23	4q21.23	610958	AGPAT9, GPAT3, MAG1	1-acylglycerol-3-phosphate O-acyltransferase 9	GPAT3	84803	ENSG00000138678			Gpat3 (MGI:3603816)
chr4	84491985	84499292	4q21.2-q22	4q21.23	602563	NKX6-1, NKX6A	NK6 homeobox 1	NKX6-1	4825	ENSG00000163623			Nkx6-1 (MGI:1206039)
chr4	84583127	84651334	4q21	4q21.23	603548	CDS1	CDP-diacylglycerol synthase 1	CDS1	1040	ENSG00000163624			Cds1 (MGI:1921846)
chr4	84669597	84966690	4q21	4q21.23	617485	WDFY3, ALFY, BCHS, MCPH18	WD repeat- and FYVE domain-containing protein 3	WDFY3	23001	ENSG00000163625	mutation identified in 1 MCPH18 family	?Microcephaly 18, primary, autosomal dominant, 617520 (3), Autosomal dominant	Wdfy3 (MGI:1096875)
chr4	85475150	86002666	4q21	4q21.23-q21.3	610586	ARHGAP24, RCGAP72, FILGAP	RHO GTPase-activating protein 24	ARHGAP24	83478	ENSG00000138639			Arhgap24 (MGI:1922647)
chr4	86010405	86594074	4q21.3	4q21.3	602897	MAPK10, PRKM10, JNK3	Mitogen-activated protein kinase 10	MAPK10	5602	ENSG00000109339			Mapk10 (MGI:1346863)
chr4	86594315	86815161	4q21.3	4q21.3	600267	PTPN13	Protein tyrosine phosphatase, nonreceptor-type, 13 (APO-1/CD95 (Fas)-associated phosphatase)	PTPN13	5783	ENSG00000163629	633bp upstream of JNK3		Ptpn13 (MGI:103293)
chr4	86823468	86849384	4q21.3	4q21.3	613366	SLC10A6, SOAT	Solute carrier family 10 (sodium/bile acid cotransporter family), member 6	SLC10A6	345274	ENSG00000145283			Slc10a6 (MGI:1923000)
chr4	86935011	87141039	4q21	4q21.3-q22.1	159557	AFF1, MLLT2, AF4	AF4/FMR2 family, member 1	AFF1	4299	ENSG00000172493	fuses with ALL1		Aff1 (MGI:1100819)
chr4	87100001	92800000	4q22.1		613518	ATOD8	Dermatitis, atopic, 8		105463125			{Dermatitis, atopic, susceptibility to, 8}, 613518 (2)	
chr4	87100001	97900000	4q22		612343	MUSQTL1	Musical aptitude quantitative trait locus 1		100192307		near D4S423 and D4S2460	[Musical aptitude QTL 1], 612343 (2)	
chr4	87100001	122800000	4q22-q27		609994	MYP11	Myopia 11		594832		max lod at D4S1564	Myopia 11, 609994 (2)	
chr4	87160103	87240531	4q22.1	4q22.1	611967	KLHL8, KIAA1378	Kelch-like 8	KLHL8	57563	ENSG00000145332			Klhl8 (MGI:2179430)
chr4	87303794	87322882	4q22.1	4q22.1	612127	HSD17B13, SCDR9, FLDP	17-beta-hydroxysteroid dehydrogenase XIII	HSD17B13	345275	ENSG00000170509		{Fatty liver disease, protection from}, 620116 (3), Autosomal dominant	Hsd17b13 (MGI:2140804)
chr4	87336515	87391188	4q21	4q22.1	612831	HSD17B11, RETSDR2, PAN1B	17-beta-hydroxysteroid dehydrogenase XI	HSD17B11	51170	ENSG00000198189			Hsd17b11 (MGI:2149821)
chr4	87422573	87459455	4q22.1	4q22.1	606022	NUDT9	Nudix hydrolase 9	NUDT9	53343	ENSG00000170502			Nudt9 (MGI:1921417)
chr4	87473335	87529376	4q22.1	4q22.1	606041	SPARCL1, HEVIN	SPARC-like protein 1	SPARCL1	8404	ENSG00000152583			Sparcl1 (MGI:108110)
chr4	87608529	87616873	4q21.3	4q22.1	125485	DSPP, DPP, DGI1, DFNA39, DTDP2	Dentin sialophosphoprotein	DSPP	1834	ENSG00000152591		Dentinogenesis imperfecta, Shields type III, 125500 (3), Autosomal dominant; Dentinogenesis imperfecta, Shields type II, 125490 (3), Autosomal dominant; Dentin dysplasia, type II, 125420 (3), Autosomal dominant; Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3), Autosomal dominant	Dspp (MGI:109172)
chr4	87650280	87664357	4q21	4q22.1	600980	DMP1, ARHR, ARHP	Dentin matrix acidic phosphoprotein	DMP1	1758	ENSG00000152592		Hypophosphatemic rickets, AR, 241520 (3), Autosomal recessive	Dmp1 (MGI:94910)
chr4	87799554	87812435	4q21-q25	4q22.1	147563	IBSP	Integrin-binding sialoprotein (bone sialoprotein II)	IBSP	3381	ENSG00000029559			Ibsp (MGI:96389)
chr4	87821398	87846792	4q21.1	4q22.1	605912	MEPE	Matrix, extracellular, phosphoglycoprotein	MEPE	56955	ENSG00000152595			Mepe (MGI:2137384)
chr4	87975714	87983411	4q21-q25	4q22.1	166490	SPP1, OPN	Secreted phosphoprotein-1 (osteopontin, bone sialoprotein)	SPP1	6696	ENSG00000118785			Spp1 (MGI:98389)
chr4	88007635	88077777	4q21-q23	4q22.1	173910	PKD2	Polycystin-2	PKD2	5311	ENSG00000118762		Polycystic kidney disease 2, 613095 (3), Autosomal dominant	Pkd2 (MGI:1099818)
chr4	88090264	88231626	4q22	4q22.1	603756	ABCG2, BCRP, ABCP, UAQTL1, GOUT1	ATP-binding cassette, subfamily G, member 2	ABCG2	9429	ENSG00000118777		[Junior blood group system], 614490 (3); [Uric acid concentration, serum, QTL1], 138900 (3), ?Autosomal dominant	Abcg2,Abcg3 (MGI:1347061,MGI:1351624)
chr4	88257620	88284561	4q22.1	4q22.1	611065	PPM1K, PP2CM, PTMP, MSUDMV	Protein phosphatase, PP2C domain-containing, 1K	PPM1K	152926	ENSG00000163644		Maple syrup urine disease, mild variant, 615135 (3), Autosomal recessive	Ppm1k (MGI:2442111)
chr4	88378852	88443097	4q22.1	4q22.1	609249	HERC6	HECT domain and RCC1-like domain 6	HERC6	55008	ENSG00000138642			Herc6 (MGI:1914388)
chr4	88457119	88506163	4q22.2-q22.3	4q22.1	608242	HERC5, CEB1	HECT domain and RCC1-like domain 5	HERC5	51191	ENSG00000138646			
chr4	88520998	88523776	4q22.1	4q22.1	610662	PIGY, HPMRS6	Phosphatidylinositol glycan, class Y	PIGY	84992	ENSG00000255072		Hyperphosphatasia with impaired intellectual development syndrome 6, 616809 (3), Autosomal recessive	Pigyl (MGI:1913518)
chr4	88520998	88523776	4q22	4q22.1	619956	PYURF, PREY, NDUFAFQ	PIGY upstream open reading frame	PYURF	100996939	ENSG00000145337			Pyurf (MGI:1913709)
chr4	88523843	88708539	4q22.1	4q22.1	605200	HERC3	HECT domain and RCC1-like domain 3	HERC3	8916	ENSG00000138641			Herc3 (MGI:1921248)
chr4	88695913	88697829	4q21-q22	4q22.1	612203	NAP1L5, DRLM	Nucleosome assembly protein 1-like 5	NAP1L5	266812	ENSG00000177432			Nap1l5 (MGI:1923555)
chr4	88709789	88730103	4q22.1	4q22.1	613300	FAM13AOS, FAM13A1OS	FAM13A opposite strand	FAM13A-AS1	285512		overlaps with FAM13A		
chr4	88725960	89057185	4q22.1	4q22.1	613299	FAM13A, FAM13A1, KIAA0914	Family with sequence similarity 13, member A	FAM13A	10144	ENSG00000138640	overlaps with FAM13AOS		Fam13a (MGI:1889842)
chr4	89111169	89114901	4q22.1	4q22.1	612973	TIGD2	TIGGER transposable element-derived gene 2	TIGD2	166815	ENSG00000180346			Tigd2 (MGI:1915390)
chr4	89236383	89307800	4q22.1	4q22.1	611241	GPRIN3, GRIN3	GPRIN family, member 3	GPRIN3	285513	ENSG00000185477			Gprin3 (MGI:1924785)
chr4	89724099	89838304	4q21	4q22.1	163890	SNCA, NACP, PARK1, PARK4	Synuclein, alpha (non A4 component of amyloid precursor)	SNCA	6622	ENSG00000145335		Dementia, Lewy body, 127750 (3), Autosomal dominant; Parkinson disease 1, 168601 (3), Autosomal dominant; Parkinson disease 4, 605543 (3), Autosomal dominant	Snca (MGI:1277151)
chr4	89879511	89954614	4q22.1	4q22.1	601456	MMRN1, ECM	Multimerin 1	MMRN1	22915	ENSG00000138722			Mmrn1 (MGI:1918195)
chr4	90127394	91605295	4q22.1	4q22.1	618934	CCSER1, FAM190A	Coiled-coil serine-rich protein 1	CCSER1	401145	ENSG00000184305			Ccser1 (MGI:3045354)
chr4	92303966	93810456	4q22	4q22.1-q22.2	602368	GRID2, SCAR18	Glutamate receptor, ionotropic, delta-2	GRID2	2895	ENSG00000152208		Spinocerebellar ataxia, autosomal recessive 18, 616204 (3), Autosomal recessive	Grid2 (MGI:95813)
chr4	93828753	93830964	4q22	4q22.2	601461	ATOH1, ATH1, DFNA89	Atonal bHLH transcription factor 1	ATOH1	474	ENSG00000172238	mutation identified in DFNA89 family	?Deafness, autosomal dominant 89, 620284 (3), Autosomal dominant	Atoh1 (MGI:104654)
chr4	94207608	94291292	4q22-q23	4q22.3	612761	SMARCAD1, KIAA1122, ETL1, HEL1, ADERM, BASNS, HRZ	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily A, DEAD/H box-containing, 1	SMARCAD1	56916	ENSG00000163104		Basan syndrome, 129200 (3), Autosomal dominant; Huriez syndrome, 181600 (3), Autosomal dominant; Adermatoglyphia, 136000 (3), Autosomal dominant	Smarcad1 (MGI:95453)
chr4	94298535	94342836	4q21-q22	4q22.3	602598	HPGDS, PGDS	Prostaglandin D2 synthase, hematopoietic	HPGDS	27306	ENSG00000163106			Hpgds (MGI:1859384)
chr4	94451942	94668223	4q22	4q22.3	605904	ENH	Enigma-like LIM domain protein	PDLIM5	10611	ENSG00000163110			Pdlim5 (MGI:1927489)
chr4	94757955	95158450	4q23-q24	4q22.3	603248	BMPR1B, ALK6, AMD3, BDA2, BDA1D	Bone morphogenetic protein receptor, type IB	BMPR1B	658	ENSG00000138696		Acromesomelic dysplasia 3, 609441 (3), Autosomal recessive; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type A1, D, 616849 (3), Autosomal dominant	Bmpr1b (MGI:107191)
chr4	95162504	95548973	4q21-q23	4q22.3	603610	UNC5C, UNC5H3	unc-5 netrin receptor C	UNC5C	8633	ENSG00000182168			Unc5c (MGI:1095412)
chr4	95840093	95841464	4q22-q23	4q22.3	179061	PDHA2, SPGF70	Pyruvate dehydrogenase E1, subunit alpha-2	PDHA2	5161	ENSG00000163114		Spermatogenic failure 70, 619828 (3), Autosomal recessive	Pdha2 (MGI:97533)
chr4	97900001	100100000	4q23		603739	BTF3P13, BTF3L3	Basic transcription factor 3 pseudogene 13	BTF3P13	132556				
chr4	98261384	98443858	4q21-q25	4q23	179502	RAP1GDS1	RAP1, GTP-GDP dissociation stimulator 1	RAP1GDS1	5910	ENSG00000138698	fusion partner with NUP98 in ALL	Alfadhel syndrome, 620655 (3), Autosomal recessive	Rap1gds1 (MGI:2385189)
chr4	98470367	98658611	4q23	4q23	613136	TSPAN5, NET4	Tetraspanin 5	TSPAN5	10098	ENSG00000168785			Tspan5 (MGI:1928096)
chr4	98879276	98929133	4q21-q25	4q23	133440	EIF4E, EIF4EL1, AUTS19	Eukaryotic translation initiation factor 4E	EIF4E	1977	ENSG00000151247	pseudogene on 20	{Autism, susceptibility to, 19}, 615091 (3)	Eif4e (MGI:95305)
chr4	98995721	99062809	4q23	4q23	610151	METAP1, KIAA0094	Methionyl aminopeptidase 1	METAP1	23173	ENSG00000164024			Metap1 (MGI:1922874)
chr4	99070978	99088788	4q21-q25	4q23	103710	ADH5, FDH, AMEDS, BMFS7	Alcohol dehydrogenase (class III), chi polypeptide	ADH5	128	ENSG00000197894	AMEDS is digenic with ALDH2	AMED syndrome, digenic, 619151 (3), Digenic recessive	Adh5 (MGI:87929)
chr4	99123658	99144297	4q22	4q23	103740	ADH4	Alcohol dehydrogenase (class II), pi polypeptide	ADH4	127	ENSG00000198099			Adh4 (MGI:1349472)
chr4	99202639	99219246	4q23-q24	4q23	103735	ADH6	Alcohol dehydrogenase 6 (aldehyde reductase)	ADH6	130	ENSG00000172955			Adh6b (MGI:2446626)
chr4	99276369	99290985	4q22	4q23	103700	ADH1A, ADH1	Alcohol dehydrogenase IA (class I), alpha polypeptide	ADH1A	124	ENSG00000187758			Adh1 (MGI:87921)
chr4	99304971	99321401	4q22	4q23	103720	ADH1B, ADH2	Alcohol dehydrogenase IB (class I), beta polypeptide	ADH1B	125	ENSG00000196616		{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3), Multifactorial; {Alcohol dependence, protection against}, 103780 (3), Multifactorial	Adh1 (MGI:87921)
chr4	99336497	99352746	4q22	4q23	103730	ADH1C, ADH3	Alcohol dehydrogenase IC (class I), gamma polypeptide	ADH1C	126	ENSG00000248144		{Alcohol dependence, protection against}, 103780 (3), Multifactorial; {Parkinson disease, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant	Adh1 (MGI:87921)
chr4	99412263	99435342	4q23-q24	4q23	600086	ADH7	Alcohol dehydrogenase-7	ADH7	131	ENSG00000196344			Adh7 (MGI:87926)
chr4	99546711	99564039	4q23	4q23	616013	TRMT10A, RG9MTD2, MSSGM1	tRNA methyltransferase 10A	TRMT10A	93587	ENSG00000145331		Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3), Autosomal recessive	Trmt10a (MGI:1920421)
chr4	99564130	99623997	4q22-q24	4q23	157147	MTTP	Microsomal triglyceride transfer protein, 88kD	MTTP	4547	ENSG00000138823		Abetalipoproteinemia, 200100 (3), Autosomal recessive	Mttp (MGI:106926)
chr4	99636529	99657828	4q23	4q23	617881	C4orf54, LOC285556, FOPV	Chromosome 4 open reading frame 54	C4orf54	285556	ENSG00000248713			1110002E22Rik (MGI:1915066)
chr4	99816827	99872333	4q25-q27	4q23	605768	DAPP1, BAM32	Dual adaptor of phosphotyrosine and 3-phosphoinositides 1	DAPP1	27071	ENSG00000070190			Dapp1 (MGI:1347063)
chr4	99878336	99894546	4q23	4q23	603296	LAMTOR3, MP1, MAPBP	Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 3	LAMTOR3	8649	ENSG00000109270			Lamtor3 (MGI:1929467)
chr4	99896248	99946618	4q23	4q23	617487	DNAJB14	DNAJ/HSP40 homolog, subfamily B, member 14	DNAJB14	79982	ENSG00000164031			Dnajb14 (MGI:1917854)
chr4	99948088	99950275	4q24	4q23	142763	H2AZ1, H2AZ	H2A.Z variante histone 1	H2AZ1	3015	ENSG00000164032			H2az1 (MGI:1888388)
chr4	100100001	138500000	4q24-q28		613340	HWE2	Epilepsy, hot water, 2		100415904		between D4S1572 and D4S2277	Epilepsy, hot water, 2, 613340 (2)	
chr4	100100001	106700000	4q24		157300	MGR1, MA	Migraine with or without aura, susceptibility to, 1		192115			{Migraine with or without aura, susceptibility to, 1}, 157300 (2), Autosomal dominant	
chr4	100100001	106700000	4q24		615312	OCA5	Albinism, oculocutaneous, type V		101926885		max lod at D4S961	Albinism, oculocutaneous, type V, 615312 (2), Autosomal recessive	
chr4	100185870	100190468	4q24-q25	4q24	607730	DDIT4L, REDD2	DNA damage-inducible transcript 4-like	DDIT4L	115265	ENSG00000145358			Ddit4l (MGI:1920534)
chr4	100395341	100518022	4q24	4q24	608350	EMCN, EMCN2	Endomucin	EMCN	51705	ENSG00000164035			Emcn (MGI:1891716)
chr4	101023418	101347526	4q24-q25	4q24	114105	PPP3CA, PPP2B, CALNA, CNA1, DEE91, ACCIID	Protein phosphatase 3, catalytic subunit, alpha isoform (calcineurin A alpha)	PPP3CA	5530	ENSG00000138814		Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3), Autosomal dominant; Developmental and epileptic encephalopathy 91, 617711 (3), Autosomal dominant	Ppp3ca (MGI:107164)
chr4	101790730	102074812	4q22-q24	4q24	610292	BANK1, FLJ20706, BANK	B-cell scaffold protein with ankyrin repeats 1	BANK1	55024	ENSG00000153064			Bank1 (MGI:2442120)
chr4	102251041	102345482	4q22-q24	4q24	608732	SLC39A8, BIGM103, CDG2N	Solute carrier family 39 (zinc transporter), member 8	SLC39A8	64116	ENSG00000138821		Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive	Slc39a8 (MGI:1914797)
chr4	102501359	102617302	4q23-q24	4q24	164011	NFKB1, CVID12	Nuclear factor kappa-B, subunit 1 (p105, p50)	NFKB1	4790	ENSG00000109320		Immunodeficiency, common variable, 12, 616576 (3), Autosomal dominant	Nfkb1 (MGI:97312)
chr4	102630770	102760968	4q22-q25	4q24	609489	MANBA, MANB1	Mannosidase, beta A, lysosomal	MANBA	4126	ENSG00000109323	linked in mouse to Adl-3	Mannosidosis, beta, 248510 (3), Autosomal recessive	Manba (MGI:88175)
chr4	102794383	102868895	4q24	4q24	602963	UBE2D3, UBCH5C	Ubiquitin-conjugating enzyme E2 D3	UBE2D3	7323	ENSG00000109332			Ube2d3 (MGI:1913355)
chr4	102868992	102892807	4q22-q24	4q24	611507	CISD2, WFS2, ZCD2, ERIS	CDGSH iron sulfur domain protein 2	CISD2	493856	ENSG00000145354		Wolfram syndrome 2, 604928 (3), Autosomal recessive	Cisd2 (MGI:1914256)
chr4	102885049	103019705	4q24	4q24	611527	NHEDC1	Na+/H+ exchanger domain-containing protein 1	SLC9B1	150159	ENSG00000164037			Slc9b1 (MGI:1921696)
chr4	103018029	103077319	4q24	4q24	611789	NHEDC2, NHA2	NA+/H+ exchanger domain-containing protein 2	SLC9B2	133308	ENSG00000164038			Slc9b2 (MGI:2140077)
chr4	103105811	103198343	4q24-q25	4q24	117143	CENPE, MCPH13	Centromere autoantigen E, 312kD	CENPE	1062	ENSG00000138778	mutation identified in 1 MCPH13 family	?Microcephaly 13, primary, autosomal recessive, 616051 (3), Autosomal recessive	Cenpe (MGI:1098230)
chr4	103586031	103719985	4q25	4q24	162332	TACR3, NK3R, HH11	Tachykinin receptor 3	TACR3	6870	ENSG00000169836		Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3), Autosomal recessive	Tacr3 (MGI:892968)
chr4	104468308	104494894	4q22-q24	4q24	611645	CXXC4, IDAX	CXXC finger protein 4	CXXC4	80319	ENSG00000168772			Cxxc4 (MGI:2442112)
chr4	105145875	105279803	4q24	4q24	612839	TET2, KIAA1546, MDS, IMD75	tet methylcytosine dioxygenase 2	TET2	54790	ENSG00000168769		Myelodysplastic syndrome, somatic, 614286 (3); Immunodeficiency 75, 619126 (3), Autosomal recessive	Tet2 (MGI:2443298)
chr4	105369077	105474070	4q25	4q24	609988	PPA2, SCFI, SCFAI	Pyrophosphatase, inorganic, 2	PPA2	27068	ENSG00000138777	mutation identified in 1 SCFAI family	?Sudden cardiac failure, alcohol-induced, 617223 (3), Autosomal recessive; Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive	Ppa2 (MGI:1922026)
chr4	105552620	105682566	4q24	4q24	619919	ARHGEF38	Rho guanine nucleotide exchange factor 38	ARHGEF38	54848	ENSG00000236699			Arhgef38 (MGI:1924919)
chr4	105682627	105708689	4q24	4q24	611355	INTS12, INT12	Integrator complex subunit 12	INTS12	57117	ENSG00000138785			Ints12 (MGI:1919043)
chr4	105708784	105847725	4q24	4q24	615912	GSTCD	Glutathione S-transferase C-terminal domain-containing protein	GSTCD	79807	ENSG00000138780			Gstcd (MGI:1914803)
chr4	105895471	105971671	4q24	4q24	610306	NPNT, POEM	Nephronectin	NPNT	255743	ENSG00000168743			Npnt (MGI:2148811)
chr4	106041599	106316683	4q24	4q24	616899	TBCK, IHPRF3	TBC1 domain-containing kinase	TBCK	93627	ENSG00000145348		Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive	Tbck (MGI:2445052)
chr4	106315544	106349456	4q24	4q24	603605	AIMP1, SCYE1, EMAP2, EMAPII, HLD3	ARS-interacting multifunctional protein 1	AIMP1	9255	ENSG00000164022		Leukodystrophy, hypomyelinating, 3, 260600 (3), Autosomal recessive	Aimp1 (MGI:102774)
chr4	106700001	113200000	4q25		611494	ATFB5	Atrial fibrillation, familial, 5		100188842		association with rs2200733 and rs10033464	{Atrial fibrillation, familial, 5}, 611494 (2)	
chr4	106700001	113200000	4q25		152430	LGV1	Longevity 1, QTL		140802		maximum lod at D4S1564	[Longevity 1], 152430 (2)	
chr4	106921802	107036313	4q25	4q25	605415	DKK2	Dickkopf WNT signaling pathway inhibitor 2	DKK2	27123	ENSG00000155011			Dkk2 (MGI:1890663)
chr4	107613666	107720234	4q24	4q25	603262	PAPSS1, ATPSK1	3'-phosphoadenosine 5'-phosphosulfate synthase 1 (ATP sulfurylase/APS kinase-1)	PAPSS1	9061	ENSG00000138801			Papss1 (MGI:1330587)
chr4	107824563	107915047	4q25	4q25	611574	SGMS2, SMS2, CDL	Sphingomyelin synthase 2	SGMS2	166929	ENSG00000164023		Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, 126550 (3), Autosomal dominant	Sgms2 (MGI:1921692)
chr4	107931549	107953461	4q25	4q25	610670	CYP2U1, SPG56	Cytochrome P450, family 2, subfamily U, polypeptide 1	CYP2U1	113612	ENSG00000155016		Spastic paraplegia 56, autosomal recessive, 615030 (3), Autosomal recessive	Cyp2u1 (MGI:1918769)
chr4	107989889	108035171	4q22-q26	4q25	601609	HADH, HADHSC, SCHAD, HHF4	3-hydroxyacyl-CoA dehydrogenase	HADH	3033	ENSG00000138796		Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3), Autosomal recessive; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3), Autosomal recessive	Hadh (MGI:96009)
chr4	108047548	108168932	4q23-q25	4q25	153245	LEF1	Lymphoid enhancer-binding factor-1	LEF1	51176	ENSG00000138795			Lef1 (MGI:96770)
chr4	108620576	108630484	4q25	4q25	616862	RPL34	Ribosomal protein L34	RPL34	6164	ENSG00000109475			Rpl34,Rpl34-ps1,Rpl34-ps2 (MGI:1915686,MGI:3648994,MGI:3704270)
chr4	108650599	108667820	4q25	4q25	619023	OSTC	Oligosaccharyltransferase complex, noncatalytic subunit	OSTC	58505	ENSG00000198856			Ostc (MGI:1913607)
chr4	108742053	108763053	4q25	4q25	614682	AGXT2L1	Alanine-glyoxylate aminotransferase 2-like 1	ETNPPL	64850	ENSG00000164089			Etnppl (MGI:1919010)
chr4	108808725	109302658	4q25	4q25	610004	COL25A1, CLAC, CFEOM5	Collagen, type XXV, alpha-1 polypeptide	COL25A1	84570	ENSG00000188517		Fibrosis of extraocular muscles, congenital, 5, 616219 (3), Autosomal recessive	Col25a1 (MGI:1924268)
chr4	109433815	109540896	4q25	4q25	607184	SEC24B	SEC24-related gene family, member B	SEC24B	10427	ENSG00000138802			Sec24b (MGI:2139764)
chr4	109560246	109688719	4q25	4q25	620702	MCUB, CCDC109B	Mitochondrial calcium uniporter, dominant-negative subunit beta	MCUB	55013	ENSG00000005059			Mcub (MGI:1914065)
chr4	109664388	109709767	4q25-q25	4q25	601532	CASP6, MCH2	Caspase 6, apoptosis-related cysteine protease	CASP6	839	ENSG00000138794			Casp6 (MGI:1312921)
chr4	109709989	109730070	4q25	4q25	611652	PLA2G12A, GXII, ROSSY	Phospholipase A2, Group XIIA	PLA2G12A	81579	ENSG00000123739			Pla2g12a (MGI:1913600)
chr4	109730982	109801999	4q25	4q25	217030	CFI, FI, AHUS3, ARMD13	Complement factor I	CFI	3426	ENSG00000205403	40kb distal to EGF	{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3), Autosomal dominant; {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3), Autosomal dominant; Complement factor I deficiency, 610984 (3), Autosomal recessive	Cfi (MGI:105937)
chr4	109815510	109824737	4q25	4q25	606468	GAR1, NOLA1	GAR1 ribonucleoprotein	GAR1	54433	ENSG00000109534			Gar1 (MGI:1930948)
chr4	109827972	109844942	4q	4q25	605224	RRH	Rhodopsin homolog, retinal pigment epithelium-derived (peropsin)	RRH	10692	ENSG00000180245			Rrh (MGI:1097709)
chr4	109848107	109872315	4q25	4q25	615004	LRIT3, FIGLER4, CSNB1F	Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 3	LRIT3	345193	ENSG00000183423		Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3), Autosomal recessive	Lrit3 (MGI:2685267)
chr4	109912883	110013766	4q25	4q25	131530	EGF, URG, HOMG4	Epidermal growth factor (urogastrone)	EGF	1950	ENSG00000138798	mutation identified in 1 HOMG4 family	?Hypomagnesemia 4, renal, 611718 (3), Autosomal recessive	Egf (MGI:95290)
chr4	110045846	110199202	4q25	4q25	611546	ELOVL6, LCE, FACE	Elongation of very long chain fatty acids-like 6	ELOVL6	79071	ENSG00000170522			Elovl6 (MGI:2156528)
chr4	110476155	110565285	4q25	4q25	138297	ENPEP	Glutamyl aminopeptidase (aminopeptidase A)	ENPEP	2028	ENSG00000138792			Enpep (MGI:106645)
chr4	110595513	110615458	4q25	4q25	617286	PANCR	PITX2 adjacent noncoding RNA	PANCR	110231149				
chr4	110617423	110642123	4q25-q26	4q25	601542	PITX2, IDG2, RIEG1, RGS, IGDS2, ASGD4	Paired-like homeodomain transcription factor-2	PITX2	5308	ENSG00000164093		Ring dermoid of cornea, 180550 (3), Autosomal dominant; Axenfeld-Rieger syndrome, type 1, 180500 (3), Autosomal dominant; Anterior segment dysgenesis 4, 137600 (3), Autosomal dominant	Pitx2 (MGI:109340)
chr4	110860582	110860647	4q25	4q25	615520	MIR297	Micro RNA 297	MIR297	100126354	ENSG00000215961			
chr4	112231787	112273110	4q25	4q25	610851	AP1AR, C4orf16, GBAR, 2C18	Adaptor-related protein complex 1-associated regulatory protein	AP1AR	55435	ENSG00000138660			Ap1ar (MGI:2384822)
chr4	112274537	112285904	4q25	4q25	609028	TIFA, T2BP	TRAF-interacting protein with forkhead-associated domain	TIFA	92610	ENSG00000145365			Tifa (MGI:2182965)
chr4	112297369	112442621	4q25	4q25	607347	ALPK1, LAK, KIAA1527, ROSAH	Alpha-kinase 1	ALPK1	80216	ENSG00000073331		ROSAH syndrome, 614979 (3), Autosomal dominant	Alpk1 (MGI:1918731)
chr4	112513516	112516180	4q25	4q25	606624	NEUROG2, NGN2, ATOH4	Neurogenin 2	NEUROG2	63973	ENSG00000178403			Neurog2 (MGI:109619)
chr4	112637143	112657586	4q25	4q25	612026	LARP7, PIP7S, ALAZS	La ribonucleoprotein 7, transcriptional regulator	LARP7	51574	ENSG00000174720		Alazami syndrome, 615071 (3), Autosomal recessive	Larp7,Larp7-ps (MGI:107634,MGI:3650864)
chr4	112647874	112647941	4q25	4q25	614600	MIR367	Micro RNA 367	MIR367	442912	ENSG00000199169			Mir367 (MGI:3619373)
chr4	112648004	112648071	4q25	4q25	614599	MIR302D	Micro RNA 302D	MIR302D	442896	ENSG00000199145			Mir302d (MGI:3619328)
chr4	112648183	112648251	4q25	4q25	614596	MIR302A	Micro RNA 302A	MIR302A	407028	ENSG00000207927			Mir302a (MGI:3619325)
chr4	112648363	112648430	4q25	4q25	614598	MIR302C	Micro RNA 302C	MIR302C	442895	ENSG00000199102			Mir302c (MGI:3619327)
chr4	112648485	112648557	4q25	4q25	614597	MIR302B	Micro RNA 302B	MIR302B	442894	ENSG00000284463			Mir302b (MGI:3619326)
chr4	112705622	113383736	4q25-q27	4q25-q26	106410	ANK2, LQT4	Ankyrin-2, nonerythrocytic	ANK2	287	ENSG00000145362		Long QT syndrome 4, 600919 (3), Autosomal dominant; Cardiac arrhythmia, ankyrin-B-related, 600919 (3), Autosomal dominant	Ank2 (MGI:88025)
chr4	113200001	119900000	4q26		620942	SYISL	SYNPO2 intron sense-overlapping long noncoding RNA						
chr4	113451032	113761738	4q26	4q26	607708	CAMK2D	Calcium/calmodulin-dependent protein kinase II-delta	CAMK2D	817	ENSG00000145349			Camk2d (MGI:1341265)
chr4	113900284	113979647	4q26	4q26	610010	ARSJ	Arylsulfatase J	ARSJ	79642	ENSG00000180801			Arsj (MGI:2443513)
chr4	114598402	114678225	4q26	4q26	601291	UGT8, CGT	UDP glycosyltransferase 8 (cerebroside synthase)	UGT8	7368	ENSG00000174607			Ugt8a (MGI:109522)
chr4	114827763	115113620	4q25-q26	4q26	615039	NDST4	N-deacetylase/N-sulfotransferase 4	NDST4	64579	ENSG00000138653			Ndst4 (MGI:1932545)
chr4	117083554	117085576	4q26	4q26	617505	TRAM1L1	Translocation-associated membrane protein 1-like 1	TRAM1L1	133022	ENSG00000174599			Tram1l1 (MGI:2443503)
chr4	118033322	118258634	4q26	4q26	603950	NDST3	N-deacetylase/N-sulfotransferase 3	NDST3	9348	ENSG00000164100			Ndst3 (MGI:1932544)
chr4	118280038	118353003	4q25-q26	4q26	606709	PRSS12, BSSP3, MRT1	Protease, serine, 12	PRSS12	8492	ENSG00000164099		Intellectual developmental disorder, autosomal recessive 1, 249500 (3), Autosomal recessive	Prss12 (MGI:1100881)
chr4	118685392	118715430	4q26	4q26	616504	METTL14, KIAA1627	Methyltransferase 14, N6-adenosine-methyltransferase subunit	METTL14	57721	ENSG00000145388			Mettl14 (MGI:2442926)
chr4	118722823	118836126	4q26	4q26	607186	SEC24D, KIAA0755, CLCRP2	SEC24-related gene family, member D	SEC24D	9871	ENSG00000150961		Cole-Carpenter syndrome 2, 616294 (3), Autosomal recessive	Sec24d (MGI:1916858)
chr4	118850681	119061247	4q26	4q26	620941	SYNPO2	Synaptopodin 2	SYNPO2	171024	ENSG00000172403			Synpo2 (MGI:2153070)
chr4	119135832	119187789	4q26-q27	4q26	605602	MYOZ2, CMH16	Myozenin 2	MYOZ2	51778	ENSG00000172399		Cardiomyopathy, hypertrophic, 16, 613838 (3), Autosomal dominant	Myoz2 (MGI:1913063)
chr4	119212601	119295518	4q26	4q26	617431	USP53, KIAA1350, PFIC7	Ubiquitin-specific peptidase 53	USP53	54532	ENSG00000145390		Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, 619658 (3), Autosomal recessive	Usp53 (MGI:2139607)
chr4	119296419	119304445	4q26	4q26	620530	C4orf3, ALN	Chromosome 4 open reading frame 3	ARLN	401152	ENSG00000164096			Arln (MGI:1914954)
chr4	119317250	119322138	4q28-q31	4q26	134640	FABP2	Fatty acid-binding protein, intestinal	FABP2	2169	ENSG00000145384			Fabp2 (MGI:95478)
chr4	119494403	119628804	4q26	4q26	603310	PDE5A	Phosphodiesterase 5A	PDE5A	8654	ENSG00000138735			Pde5a (MGI:2651499)
chr4	119900001	122800000	4q27		611598	CELIAC6, AIS5	Celiac disease, susceptibility to, 6		100188846			{Autoimmune disease, susceptibility to, 5}, 611598 (2); {Celiac disease, susceptibility to, 6}, 611598 (2)	
chr4	119900001	122800000	4q27		612622	IDDM23	Diabetes mellitus, insulin-dependent, 23		100271697		associated with rs6534347	{Diabetes mellitus, insulin-dependent, 23}, 612622 (2)	
chr4	119900001	130100000	4q27-q28.2		614333	MRT29	Intellectual developmental disorder, autosomal recessive 29		100852393		between rs10518325 and rs10518608	Intellectual developmental disorder, autosomal recessive 29, 614333 (2), Autosomal recessive	
chr4	120055623	120066848	4q27	4q27	601467	MAD2L1	Mitotic arrest-deficient 2-like 1	MAD2L1	4085	ENSG00000164109	previously mapped to 5q23-q31		Mad2l1 (MGI:1860374)
chr4	120684291	120922726	4q27	4q27	614161	PRDM5, BCS2	PR domain-containing protein 5	PRDM5	11107	ENSG00000138738		Brittle cornea syndrome 2, 614170 (3), Autosomal recessive	Prdm5 (MGI:1918029)
chr4	121035613	121072535	4q27	4q27	616506	NDNF, C4orf31, NORD, HH25	Neuron-derived neurotrophic factor	NDNF	79625	ENSG00000173376		Hypogonadotropic hypogonadism 25 with anosmia, 618841 (3), Autosomal dominant	Ndnf (MGI:1915419)
chr4	121131408	121227483	4q27	4q27	608019	TNIP3, LIND	TNFAIP3-interacting protein 3	TNIP3	79931	ENSG00000050730			Tnip3 (MGI:3041165)
chr4	121328642	121381018	4q27	4q27	606925	QRFPR, GPR103	Pyroglutamylated RFamide peptide receptor	QRFPR	84109	ENSG00000186867			Qrfpr,Qrfprl (MGI:2441881,MGI:2677633)
chr4	121667946	121696980	4q26-q28	4q27	131230	ANXA5, ENX2, RPRGL3	Annexin A5 (endonexin II)	ANXA5	308	ENSG00000164111		{Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3), Autosomal dominant	Anxa5 (MGI:106008)
chr4	121801323	121817021	4q27	4q27	606180	EXOSC9, PMSCL1, PCH1D	Exosome component 9	EXOSC9	5393	ENSG00000123737		Pontocerebellar hypoplasia, type 1D, 618065 (3), Autosomal recessive	Exosc9 (MGI:1355319)
chr4	121816444	121823883	4q27	4q27	123835	CCNA, CCN1	Cyclin A	CCNA2	890	ENSG00000145386			Ccna2 (MGI:108069)
chr4	121824329	121870474	4q27	4q27	607590	BBS7	BBS7 gene	BBS7	55212	ENSG00000138686		Bardet-Biedl syndrome 7, 615984 (3), Autosomal recessive	Bbs7 (MGI:1918742)
chr4	121874481	121952060	4q27	4q27	602345	TRPC3, TRP3, SCA41	Transient receptor potential cation channel, subfamily C, member 3	TRPC3	7222	ENSG00000138741	mutation identified in one SCA41 patient	?Spinocerebellar ataxia 41, 616410 (3), Autosomal dominant	Trpc3 (MGI:109526)
chr4	122152331	122362752	4q27	4q27	611565	BLTP1, KIAA1109, ALKKUCS	Bridge-like lipid transfer protein family, member 1	BLTP1	84162	ENSG00000138688		Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive	Bltp1 (MGI:2444631)
chr4	122379011	122429784	4q27	4q27	614130	ADAD1, TENR	Adenosine deaminase domain-containing protein 1, testis-specific	ADAD1	132612	ENSG00000164113			Adad1 (MGI:103258)
chr4	122451470	122456725	4q26-q27	4q27	147680	IL2	Interleukin-2	IL2	3558	ENSG00000109471			Il2 (MGI:96548)
chr4	122610108	122621066	4q26-q27	4q27	605384	IL21, CVID11	Interleukin 21	IL21	59067	ENSG00000138684	mutation identified in 1 CVID11 patient	?Immunodeficiency, common variable, 11, 615767 (3), Autosomal recessive	Il21 (MGI:1890474)
chr4	122700442	122744939	4q27	4q27	610683	BBS12, FLJ35630, C4orf24	BBS12 gene	BBS12	166379	ENSG00000181004	1Mb centromeric to BBS	Bardet-Biedl syndrome 12, 615989 (3), Autosomal recessive	Bbs12 (MGI:2686651)
chr4	122800001	154600000	4q28-q31		111800	SF	Stoltzfus blood group		6420		~25cM from MNSs	[Blood group, Stoltzfus system], 111800 (2)	
chr4	122826682	122898236	4q25-q27	4q28.1	134920	FGF2, FGFB	Fibroblast growth factor-2 (basic)	FGF2	2247	ENSG00000138685	many alternate names		Fgf2 (MGI:95516)
chr4	122892577	122922968	4q28.1	4q28.1	606261	NUDT6, ASFGF2	Nudix hydrolase 6	NUDT6	11162	ENSG00000170917			Nudt6 (MGI:2387618)
chr4	122923078	123319433	4q28.1	4q28.1	613940	AFG2A, SPATA5, SPAF, NEDHSB	AFG2 AAA ATPase homolog A	AFG2A	166378	ENSG00000145375		Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, 616577 (3), Autosomal recessive	Afg2a (MGI:1927170)
chr4	123396795	123403760	4q28.1	4q28.1	602465	SPRY1	Sprouty RTK signaling antagonist 1	SPRY1	10252	ENSG00000164056			Spry1 (MGI:1345139)
chr4	124664048	124712732	4q28.1	4q28.1	619856	ANKRD50	Ankyrin repeat domain-containing protein 50	ANKRD50	57182	ENSG00000151458			Ankrd50 (MGI:2139777)
chr4	125314955	125492932	4q28.1	4q28.1	612411	FAT4, VMLDS2, HKLLS2	FAT atypical cadherin 4	FAT4	79633	ENSG00000196159		Van Maldergem syndrome 2, 615546 (3), Autosomal recessive; Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3), Autosomal recessive	Fat4 (MGI:3045256)
chr4	127632957	127726737	4q28	4q28.1	610621	INTU, KIAA1284, PDZK6, SRTD20, OFD17	Inturned planar cell polarity protein	INTU	27152	ENSG00000164066	mutation identified in 1 SRTD20 patient and 1 OFD17 patient	?Orofaciodigital syndrome XVII, 617926 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3), Autosomal recessive	Intu (MGI:2443752)
chr4	127730400	127774292	4q28.1	4q28.1	610796	SLC25A31, ANT4, AAC4	Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 31	SLC25A31	83447	ENSG00000151475			Slc25a31 (MGI:1920583)
chr4	127781796	127840733	4q28	4q28.1	619077	HSPA4L, APG1	Heat-shock protein family A (HSP70) member 4-like protein	HSPA4L	22824	ENSG00000164070			Hspa4l (MGI:107422)
chr4	127880893	127899224	4q27-q28	4q28.1	605031	PLK4, STK18, SAK, MCCRP2	Polo-like kinase 4 (serine/threonine protein kinase-18)	PLK4	10733	ENSG00000142731		Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3), Autosomal recessive	Plk4 (MGI:101783)
chr4	127917732	127965963	4q28.1-q28.2	4q28.2	611124	MFSD8, MGC33302, CLN7, CCMD	Major facilitator superfamily domain-containing protein 8	MFSD8	256471	ENSG00000164073		Macular dystrophy with central cone involvement, 616170 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 7, 610951 (3), Autosomal recessive	Mfsd8 (MGI:1919425)
chr4	128060789	128222926	4q28.2	4q28.2	620467	LARP1B, LARP2	La ribonucleoprotein 1B	LARP1B	55132	ENSG00000138709			Larp1b (MGI:1914604)
chr4	128269242	128287813	4q26	4q28.2	607735	PGRMC2	Progesterone receptor membrane component 2	PGRMC2	10424	ENSG00000164040			Pgrmc2 (MGI:1918054)
chr4	128809700	128875224	4q28.2	4q28.2	610514	PHF17, JADE1	PHD finger protein 17	JADE1	79960	ENSG00000077684			Jade1 (MGI:1925835)
chr4	128873241	129093539	4q28.2	4q28.2	611399	SCLT1, CAP1A	Sodium channel and clathrin linker 1	SCLT1	132320	ENSG00000151466			Sclt1 (MGI:1914411)
chr4	133149294	133208606	4q28.3	4q28.3	608286	PCDH10, KIAA1400	Protocadherin 10	PCDH10	57575	ENSG00000138650			Pcdh10 (MGI:1338042)
chr4	137518918	137532494	4q31	4q28.3	608287	PCDH18, KIAA1562	Protocadherin 18	PCDH18	54510	ENSG00000189184			Pcdh18 (MGI:1920423)
chr4	138164097	138312671	4q28.3	4q28.3	607933	SLC7A11, XCT	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 11	SLC7A11	23657	ENSG00000151012			Slc7a11 (MGI:1347355)
chr4	138500001	154600000	4q31		609782	AAA2	Aortic aneurysm, familial abdominal 2		100505390		max lod at D4S1644	Aortic aneurysm, familial abdominal 2, 609782 (2)	
chr4	138500001	182300000	4q31-q34		609985	PAND3	Panic disorder 3		677663		max lod at D4S413	Panic disorder 3, 609985 (2)	
chr4	138500001	182300000	4q31-q34		607857	PSORS9	Psoriasis susceptibility 9		359825		max lod at D4S1597	{Psoriasis susceptibility 9}, 607857 (2)	
chr4	138500001	154600000	4q31		612224	STQTL12	Stature quantitative trait locus 12		100301523		associated with rs6854783	{Stature QTL 12}, 612224 (2)	
chr4	139015781	139045939	4q31.1	4q31.1	608468	NOCT, CCRN4L, CCR4L, CCR4	Nocturnin	NOCT	25819	ENSG00000151014			Noct (MGI:109382)
chr4	139057220	139177915	4q13.1	4q31.1	619798	ELF2, NERF	E74-like ETS transcription factor 2	ELF2	1998	ENSG00000109381			Elf2 (MGI:1916507)
chr4	139266165	139280225	4q28	4q31.1	619684	MGARP, OSAP, HUMMR	Mitochondria-localized glutamic acid-rich protein	MGARP	84709	ENSG00000137463			Mgarp (MGI:1914999)
chr4	139289917	139302551	4q28.2-q31.1	4q31.1	603844	NDUFC1	NADH-ubiquinone oxidoreductase subunit C1	NDUFC1	4717	ENSG00000109390			Ndufc1 (MGI:1913627)
chr4	139301505	139391384	4q31.1	4q31.1	608000	NAA15, NARG1, NATH, MRD50	N-alpha-acetyltransferase 15, NatA auxiliary subunit	NAA15	80155	ENSG00000164134		Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, 617787 (3), Autosomal dominant	Naa15 (MGI:1922088)
chr4	139438376	139476609	4q31.1	4q31.1	605950	RAB33B, SMC2	Ras-associated protein RAB33B	RAB33B	83452	ENSG00000172007		Smith-McCort dysplasia 2, 615222 (3), Autosomal recessive	Rab33b (MGI:1330805)
chr4	139492974	139556219	4q31.1	4q31.1	606594	SETD7, SET7, KIAA1717	SET domain-containing protein 7	SETD7	80854	ENSG00000145391			Setd7 (MGI:1920501)
chr4	139665819	139754618	4q28-q31	4q31.1	601733	MGST2, GST2	Microsomal glutathione S-transferase 2	MGST2	4258	ENSG00000085871			Mgst2 (MGI:2448481)
chr4	139716753	140154184	4q28.3	4q31.1	608991	MAML3, MAM2, KIAA1816	Mastermind-like 3	MAML3	55534	ENSG00000196782			Maml3 (MGI:2389461)
chr4	140388453	140427648	4q31.1	4q31.1	601858	CLGN	Calmegin	CLGN	1047	ENSG00000153132			Clgn (MGI:107472)
chr4	140442262	140498293	4q31.1	4q31.1	610310	MGAT4D, LOC152586	MGAT4 family member D	MGAT4D	152586	ENSG00000205301			Mgat4d (MGI:1914805)
chr4	140524168	140553770	4q31.1	4q31.1	610196	ELMOD2	ELMO domain-containing protein 2	ELMOD2	255520	ENSG00000179387			Elmod2 (MGI:2445165)
chr4	140559431	140568961	4q31	4q31.1	113730	UCP1	Uncoupling protein 1 (mitochondrial, proton carrier)	UCP1	7350	ENSG00000109424			Ucp1 (MGI:98894)
chr4	140620782	140756385	4q31.21	4q31.21	618035	TBC1D9, KIAA0882	TBC1 domain family member 9	TBC1D9	23158	ENSG00000109436			Tbc1d9 (MGI:1918560)
chr4	141220535	141234697	4q31.1-q31.2	4q31.21	609550	ZNF330, NOA36	Zinc finger protein 330	ZNF330	27309	ENSG00000109445			Zfp330 (MGI:1353574)
chr4	141636583	141733987	4q31	4q31.21	600554	IL15	Interleukin-15	IL15	3600	ENSG00000164136			Il15 (MGI:103014)
chr4	142023160	142846535	4q31.21	4q31.21	607494	INPP4B	Inositol polyphosphatase-4-phosphatase, type II, 105kD	INPP4B	8821	ENSG00000109452			Inpp4b (MGI:2158925)
chr4	143184917	143223874	4q31.21	4q31.21	618322	USP38	Ubiquitin-specific protease 38	USP38	84640	ENSG00000170185			Usp38 (MGI:1922091)
chr4	143336876	143474565	4q13.1	4q31.21	604439	GAB1, DFNB26	Grb2-associated binding protein 1	GAB1	2549	ENSG00000109458	mutation identified in 1 family	?Deafness, autosomal recessive 26, 605428 (3), Autosomal recessive	Gab1 (MGI:108088)
chr4	143513702	143557486	4q31.1-q31.2	4q31.21	603375	SMARCA5, SNF2H	SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 5	SMARCA5	8467	ENSG00000153147			Smarca5 (MGI:1935129)
chr4	143577302	143700675	4q31.2	4q31.21	608946	FREM3	FRAS1-related extracellular matrix protein 3	FREM3	166752	ENSG00000183090			Frem3 (MGI:2685641)
chr4	143870864	143905559	4q28-q31	4q31.21	138590	GYPE, GPE	Glycophorin E	GYPE	2996	ENSG00000197465	tandem: 5'-GYPA-GYPB-GYPE-3'; ?4q31.1		Gypa (MGI:95880)
chr4	143995188	144019380	4q28-q31	4q31.21	617923	GYPB, SS	Glycophorin B	GYPB	2994	ENSG00000250361		[Blood group, Ss], 111740 (3); {Malaria, resistance to}, 611162 (3)	Gypa (MGI:95880)
chr4	144109303	144140718	4q28.2-q31.1	4q31.21	617922	GYPA, MN, GPA	Glycophorin A	GYPA	2993	ENSG00000170180		{Malaria, resistance to}, 611162 (3); [Blood group, MNSs system], 111300 (3)	Gypa (MGI:95880)
chr4	144646156	144745271	4q28-q32	4q31.21	606178	HHIP, HIP	Hedgehog-interacting protein	HHIP	64399	ENSG00000164161			Hhip (MGI:1341847)
chr4	144994575	145098571	4q31.21	4q31.21	613745	ANAPC10, DOC1, APC10	Anaphase-promoting complex, subunit 10	ANAPC10	10393	ENSG00000164162			Anapc10 (MGI:1916249)
chr4	145098311	145129524	4q31	4q31.21	601213	ABCE1, RNASELI, RNS4I	ATP-binding cassette, subfamily E, member 1 (ribonuclease L inhibitor)	ABCE1	6059	ENSG00000164163			Abce1 (MGI:1195458)
chr4	145133650	145180589	4q31.2	4q31.21	611744	OTUD4, KIAA1046, HIN1	OTD domain-containing protein 4	OTUD4	54726	ENSG00000164164			Otud4 (MGI:1098801)
chr4	145480770	145559176	4q28	4q31.21	601595	SMAD1, MADH1, MADR1, BSP1	SMAD family member 1	SMAD1	4086	ENSG00000170365			Smad1 (MGI:109452)
chr4	145619385	145660033	4q31.1-q31.2	4q31.21	607481	MMAA	Metabolism of cobalamin associated A	MMAA	166785	ENSG00000151611		Methylmalonic aciduria, vitamin B12-responsive, cblA type, 251100 (3), Autosomal recessive	Mmaa (MGI:1923805)
chr4	145757627	145938823	4q31.21-q31.22	4q31.21-q31.22	617962	ZNF827	Zinc finger protein 827	ZNF827	152485	ENSG00000151612			Zfp827 (MGI:2444807)
chr4	146175718	146191535	4q31.2	4q31.22	607286	LSM6	LSM6 protein	LSM6	11157	ENSG00000164167			Lsm6 (MGI:1925901)
chr4	146253981	146521940	4q31.2	4q31.22	611459	SLC10A7, SSASKS	Solute carrier family 10 (sodium/bile acid cotransporter family), member 7	SLC10A7	84068	ENSG00000120519		Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 (3), Autosomal recessive	Slc10a7 (MGI:1924025)
chr4	146638893	146642474	4q31.2	4q31.22	113725	POU4F2, BRN3B	POU domain, class 4, transcription factor 2	POU4F2	5458	ENSG00000151615			Pou4f2 (MGI:102524)
chr4	146706617	146945864	4q31.22	4q31.22	618735	TTC29, SPGF42	Tetratricopeptide repeat domain-containing protein 29	TTC29	83894	ENSG00000137473		Spermatogenic failure 42, 618745 (3), Autosomal recessive	Ttc29 (MGI:1920551)
chr4	147481097	147544954	4q31.2	4q31.22-q31.23	131243	EDNRA, MFDA	Endothelin receptor type A	EDNRA	1909	ENSG00000151617		{Migraine, resistance to}, 157300 (3), Autosomal dominant; Mandibulofacial dysostosis with alopecia, 616367 (3), Autosomal dominant	Ednra (MGI:105923)
chr4	147617397	147636721	4q31.21	4q31.23	613937	TMEM184C, TMEM34	Transmembrane protein 184C	TMEM184C	55751	ENSG00000164168			Tmem184c (MGI:2384562)
chr4	147637785	147684163	4q31.23	4q31.23	616125	PRMT9, PRMT10	Protein arginine methyltransferase 9	PRMT9	90826	ENSG00000164169			Prmt9 (MGI:2142651)
chr4	147732088	148072776	4q31.2	4q31.23	609746	ARHGAP10, GRAF2, PSGAP	RHO GTPase-activating protein 10	ARHGAP10	79658	ENSG00000071205			Arhgap10 (MGI:1925764)
chr4	148078764	148445508	4q31.1	4q31.23	600983	NR3C2, MLR, MCR	Nuclear receptor subfamily 3, group C, member 2 (mineralocorticoid receptor; aldosterone receptor)	NR3C2	4306	ENSG00000151623		Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3), Autosomal dominant; Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)	Nr3c2 (MGI:99459)
chr4	150078445	150257438	4q31.23	4q31.23-q31.3	613166	DCLK2, DCK2, CLIK2, CL2	Doublecortin-like kinase 2	DCLK2	166614	ENSG00000170390			Dclk2 (MGI:1918012)
chr4	150200001	169200000	4q31.3-q32.3		611644	HSCR9	Hirschsprung disease, susceptibility to, 9		100188850		between D4S3049 and D4S1566	{Hirschsprung disease, susceptibility to, 9}, 611644 (2)	
chr4	150264435	151015727	4q31.3	4q31.3	606453	LRBA, LBA, CDC4L, CVID8	Lipopolysaccharide-responsive, beige-like anchor protein	LRBA	987	ENSG00000198589		Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3), Autosomal recessive	Lrba (MGI:1933162)
chr4	150582151	150584693	4q31.3	4q31.3	604357	MAB21L2, MCSKS14	mab-21 like 2	MAB21L2	10586	ENSG00000181541		Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3), Autosomal recessive, Autosomal dominant	Mab21l2 (MGI:1346022)
chr4	151099628	151104642	4q31.2-q31.3	4q31.3	180478	RPS3A	Ribosomal protein S3a	RPS3A	6189	ENSG00000145425			Rps3a1 (MGI:1202063)
chr4	151103827	151103891	4q31.3	4q31.3	603568	SNORD73A, RNU73	Small nucleolar RNA, C/D box 73A	SNORD73A	8944	ENSG00000208797			
chr4	151120281	151325605	4q31.3	4q31.3	608674	SH3D19, EBP	SH3 domain protein 19	SH3D19	152503	ENSG00000109686	fused with AML1 in t(4;21)		Sh3d19 (MGI:1350923)
chr4	151670504	151761007	4q31.328	4q31.3	603645	GATB, PET112, COXPD41	Glutamyl-tRNA amidotransferase, subunit B	GATB	5188	ENSG00000059691	mutation identified in 1 COXPD41 family	?Combined oxidative phosphorylation deficiency 41, 618838 (3), Autosomal recessive	Gatb (MGI:2442496)
chr4	152320544	152536092	4q31.3	4q31.3	606278	FBXW7, AGO, CDC4, DEDHIL	F-box and WD40 domain protein 7	FBXW7	55294	ENSG00000109670		Developmental delay, hypotonia, and impaired language, 620012 (3), Autosomal dominant	Fbxw7 (MGI:1354695)
chr4	152779954	152912357	4q31.3	4q31.3	605928	ARFIP1	ADP-ribosylation factor-interacting protein 1	ARFIP1	27236	ENSG00000164144			Arfip1 (MGI:1277120)
chr4	152911339	152979671	4q31.3	4q31.3	620268	FHDC1	FH2 domain-containing protein 1	FHDC1	85462	ENSG00000137460			Fhdc1 (MGI:2684972)
chr4	153152163	153339317	4q31.3	4q31.3	614141	TRIM2, KIAA0517, CMT2R	Tripartite motif-containing protein 2	TRIM2	23321	ENSG00000109654		Charcot-Marie-Tooth disease, type 2R, 615490 (3), Autosomal recessive	Trim2 (MGI:1933163)
chr4	153344649	153415118	4q31.3	4q31.3	611422	MND1	Meiotic nuclear divisions 1	MND1	84057	ENSG00000121211			Mnd1 (MGI:1924165)
chr4	153466360	153636711	4q31.3	4q31.3	616243	TMEM131L, KIAA0922	Transmembrane protein 131-like	TMEM131L	23240	ENSG00000121210			Tmem131l (MGI:2443399)
chr4	153684280	153710637	4q32	4q31.3	603028	TLR2, TIL4	Toll-like receptor-2	TLR2	7097	ENSG00000137462		{Colorectal cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant; {Leprosy, susceptibility to}, 246300 (3), Autosomal dominant; {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)	Tlr2 (MGI:1346060)
chr4	153780591	153789083	4q31.3	4q31.3	604157	SFRP2, SARP1	Secreted frizzled-related protein 2	SFRP2	6423	ENSG00000145423			Sfrp2 (MGI:108078)
chr4	154231742	154491799	4q31.3	4q31.3	612486	DCHS2, CDHJ, PCDHJ	Dachsous cadherin-related 2	DCHS2	54798	ENSG00000197410			Dchs2 (MGI:2685263)
chr4	154535005	154550400	4q31.2-q32.1	4q31.3	605961	PLRG1, PRL1	Pleiotropic regulator 1	PLRG1	5356	ENSG00000171566			Plrg1 (MGI:1858197)
chr4	154562980	154572807	4q28	4q31.3	134830	FGB	Fibrinogen, beta polypeptide	FGB	2244	ENSG00000171564	4q31 by A; proximal to GYPB/GYPA	Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive; Dysfibrinogenemia, congenital, 616004 (3), Autosomal dominant; Afibrinogenemia, congenital, 202400 (3), Autosomal recessive	Fgb (MGI:99501)
chr4	154583126	154590742	4q28	4q31.3	134820	FGA, AMYLD2	Fibrinogen, alpha polypeptide	FGA	2243	ENSG00000171560		Amyloidosis, hereditary systemic 2, 105200 (3), Autosomal dominant; Hypodysfibrinogenemia, congenital, 616004 (3), Autosomal dominant; Dysfibrinogenemia, congenital, 616004 (3), Autosomal dominant; Afibrinogenemia, congenital, 202400 (3), Autosomal recessive	Fga (MGI:1316726)
chr4	154600001	182300000	4q32-q34		612165	RP29	Retinitis pigmentosa 29		54110		maximum lod at D4S415	Retinitis pigmentosa 29, 612165 (2), Autosomal recessive	
chr4	154600001	163600000	4q32.1-q32.2		613603	TRIP4q32.1q32.2, C4TRIPq32.1q32.2	Chromosome 4q32.1-q32.2 triplication syndrome					Chromosome 4q32.1-q32.2 triplication syndrome, 613603 (4), Autosomal dominant	
chr4	154604136	154612656	4q28	4q32.1	134850	FGG	Fibrinogen, gamma polypeptide	FGG	2266	ENSG00000171557	linked to MN	Dysfibrinogenemia, congenital, 616004 (3), Autosomal dominant; Hypodysfibrinogenemia, 616004 (3), Autosomal dominant; Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive; Afibrinogenemia, congenital, 202400 (3), Autosomal recessive	Fgg (MGI:95526)
chr4	154740838	154753120	4q31	4q32.1	604863	LRAT, LCA14	Lecithin retinol acyltransferase	LRAT	9227	ENSG00000121207		Leber congenital amaurosis 14, 613341 (3), Autosomal recessive; Retinal dystrophy, early-onset severe, 613341 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 613341 (3), Autosomal recessive	Lrat (MGI:1891259)
chr4	154781272	154828813	4q32.1	4q32.1	620147	RBM46	RNA-binding motif protein 46	RBM46	166863	ENSG00000151962			Rbm46 (MGI:3645057)
chr4	155173723	155217076	4q31	4q32.1	162642	NPY2R	Neuropeptide Y receptor Y2	NPY2R	4887	ENSG00000185149			Npy2r (MGI:108418)
chr4	155342658	155376965	4q32	4q32.1	610070	ASAP	Aster-associated protein	MAP9	79884	ENSG00000164114			Map9 (MGI:2442208)
chr4	155666848	155737059	4q32	4q32.1	139396	GUCY1A1, GUCY1A3, GUC1A3, GUCSA3, MYMY6	Guanylate cyclase 1, soluble, alpha 1	GUCY1A1	2982	ENSG00000164116		Moyamoya 6 with achalasia, 615750 (3), Autosomal recessive	Gucy1a1 (MGI:1926562)
chr4	155759021	155807811	4q32	4q32.1	139397	GUCY1B1, GUCY1B3, GUC1B3, GUCSB3	Guanylate cyclase 1, soluble, beta 1	GUCY1B1	2983	ENSG00000061918			Gucy1b1 (MGI:1860604)
chr4	155829729	155866277	4q31.3-q32	4q32.1	616693	ASIC5, HINAC	Acid-sensing ion channel family member 5	ASIC5	51802	ENSG00000256394			Asic5 (MGI:1929259)
chr4	155903696	155920406	4q31-q32	4q32.1	191070	TDO2, TPH2, TRPO, HYPTRP	Tryptophan oxygenase	TDO2	6999	ENSG00000151790	mutation identified in 1 HYPTRP patient	[?Hypertryptophanemia], 600627 (3), Autosomal recessive	Tdo2 (MGI:1928486)
chr4	155924118	155953866	4q32.1	4q32.1	600550	CTSO	Cathepsin O	CTSO	1519	ENSG00000256043			Ctso (MGI:2139628)
chr4	156760454	156971799	4q32	4q32.1	608452	PDGFC	Platelet-derived growth factor C	PDGFC	56034	ENSG00000145431			Pdgfc (MGI:1859631)
chr4	157076150	157172090	4q31.3	4q32.1	138492	GLRB, HKPX2	Glycine receptor, beta subunit	GLRB	2743	ENSG00000109738		Hyperekplexia 2, 614619 (3), Autosomal recessive	Glrb (MGI:95751)
chr4	157220120	157366075	4q32-q33	4q32.1	138247	GRIA2, GLUR2, NEDLIB	Glutamate receptor, ionotropic, AMPA 2	GRIA2	2891	ENSG00000120251		Neurodevelopmental disorder with language impairment and behavioral abnormalities, 618917 (3), Autosomal dominant	Gria2 (MGI:95809)
chr4	158210486	158255416	4q32.1	4q32.1	620325	TMEM144	Transmembrane protein 144	TMEM144	55314	ENSG00000164124			Tmem144 (MGI:1917902)
chr4	158521714	158653372	4q32	4q32.1	606654	RXFP1, LGR7	Relaxin/insulin-like family peptide receptor 1	RXFP1	59350	ENSG00000171509			Rxfp1 (MGI:2682211)
chr4	158666675	158672056	4q32.1	4q32.1	616210	C4orf46, RCDG1	Chromosome 4 open reading frame 46	C4orf46	201725	ENSG00000205208			4930579G24Rik (MGI:1923189)
chr4	158672296	158709623	4q32-qter	4q32.1	231675	ETFDH, MADD	Electron transfer flavoprotein:ubiquinone oxidoreductase	ETFDH	2110	ENSG00000171503		Glutaric acidemia IIC, 231680 (3), Autosomal recessive	Etfdh (MGI:106100)
chr4	158709127	158723396	4q31.3	4q32.1	601753	PPID	Peptidylprolyl isomerase D (cyclophilin D)	PPID	5481	ENSG00000171497			Ppid (MGI:1914988)
chr4	158769026	158908050	4q32.1	4q32.1	612768	FNIP2, FNIPL, KIAA1450	Folliculin-interacting protein 2	FNIP2	57600	ENSG00000052795			Fnip2 (MGI:2683054)
chr4	159103079	159360173	4q32.1	4q32.1	609530	RAPGEF2, NRAPGEP, RAGEF, KIAA0313	Rap guanine nucleotide exchange factor 2	RAPGEF2	9693	ENSG00000109756	mutation identified in 1 FAME7 patient	?Epilepsy, familial adult myoclonic, 7, 618075 (3), Autosomal dominant	Rapgef2 (MGI:2659071)
chr4	161383897	162164000	4q32.2	4q32.2	620128	FSTL5	Follistatin-like 5	FSTL5	56884	ENSG00000168843			Fstl5 (MGI:2442179)
chr4	163103929	163166890	4q32.2	4q32.2	617868	NAF1, PFBMFT7	Nuclear assembly factor 1 ribonucleoprotein	NAF1	92345	ENSG00000145414		Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, 620365 (3), Autosomal dominant	Naf1 (MGI:2682306)
chr4	163323962	163344689	4q31.3-q32	4q32.2	162641	NPY1R	Neuropeptide Y receptor	NPY1R	4886	ENSG00000164128			Npy1r (MGI:104963)
chr4	163343892	163352403	4q31-q32	4q32.2	602001	NPY5R	Neuropeptide Y receptor Y5	NPY5R	4889	ENSG00000164129			Npy5r (MGI:108082)
chr4	163524298	164384019	4q32.2-q32.3	4q32.2-q32.3	613331	MARCH1	Membrane-associated RING-CH finger protein 1	MARCHF1	55016	ENSG00000145416			Marchf1 (MGI:1920175)
chr4	163600001	169200000	4q32.3		611109	CINN	Cinnamon odor, pleasantness of		100188835		max lod at AFM295YES	[Cinnamon odor, pleasantness of], 611109 (2)	
chr4	163600001	169200000	4q32.3		610239	HDLCQ4	High density lipoprotein cholesterol level QTL 4		100188806		between D4S1597 and D4S1539	[High density lipoprotein cholesterol level QTL 4], 610239 (2)	
chr4	164196840	164197821	4q32.3	4q32.3	606877	ANP32C, PP32R1	Acidic leucine-rich nuclear phosphoprotein 32 family, member C	ANP32CP	23520				Anp32a (MGI:108447)
chr4	164877178	164899007	4q32.3	4q32.3	615594	ELA, LOC100506013	Elabela	APELA	100506013	ENSG00000248329			Apela (MGI:3642370)
chr4	164954446	164977657	4q32.3	4q32.3	619417	TRIM61, RNF35	Tripartite motif-containing protein 61	TRIM61	391712	ENSG00000183439			Trim61 (MGI:2387432)
chr4	165031999	165041749	4q32.3	4q32.3	619416	TRIM60, RNF33	Tripartite motif-containing protein 60	TRIM60	166655	ENSG00000176979			Trim60 (MGI:2387430)
chr4	165070608	165112860	4q32.3	4q32.3	620677	TMEM192	Transmembrane protein 192	TMEM192	201931	ENSG00000170088			Tmem192 (MGI:1920317)
chr4	165207561	165323156	4q21.2	4q32.3	605774	KLHL2, MAYVEN	Kelch-like 2	KLHL2	11275	ENSG00000109466			Klhl2 (MGI:1924363)
chr4	165327669	165343164	4q32-q34	4q32.3	607545	MSMO1, SC4MOL, ERG25, MCCPD	Methylsterol monooxygenase 1	MSMO1	6307	ENSG00000052802		Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3), Autosomal recessive	Msmo1 (MGI:1913484)
chr4	165379008	165498547	4q32.3	4q32.3	114855	CPE, BDVS	Carboxypeptidase E	CPE	1363	ENSG00000109472		BDV syndrome, 619326 (3), Autosomal recessive	Cpe (MGI:101932)
chr4	165873237	166104457	4q32-q33	4q32.3	606742	TLL1, TLL, ASD6	Tolloid-like 1	TLL1	7092	ENSG00000038295		Atrial septal defect 6, 613087 (3), Autosomal dominant	Tll1 (MGI:106923)
chr4	166733384	167234945	4q32.3	4q32.3	607989	SPOCK3	SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 3	SPOCK3	50859	ENSG00000196104			Spock3 (MGI:1920152)
chr4	168092537	168187736	4q33	4q32.3	608008	ANXA10	Annexin A10	ANXA10	11199	ENSG00000109511			Anxa10 (MGI:1347090)
chr4	168216294	168325979	4q32.3	4q32.3	613974	DDX60	DExD/H-box helicase 60	DDX60	55601	ENSG00000137628			Ddx60 (MGI:2384570)
chr4	168356735	168480492	4q32.3	4q32.3	616725	DDX60L	DExD/H-box 60 like	DDX60L	91351	ENSG00000181381			
chr4	168497052	168928441	4q32.3	4q32.3	608092	PALLD, KIAA0992, PNCA1	Palladin, cytoskeletal-associated protein	PALLD	23022	ENSG00000129116		{Pancreatic cancer, susceptibility to, 1}, 606856 (3), Autosomal dominant	Palld (MGI:1919583)
chr4	168894486	169010255	4q32.3	4q32.3	619394	CBR4	Carbonyl reductase 4	CBR4	84869	ENSG00000145439			Cbr4 (MGI:2384567)
chr4	169094259	169270956	4q32.3	4q32.3-q33	618642	SH3RF1, POSH, RNF142	SH3 domain-containing RING finger protein 1	SH3RF1	57630	ENSG00000154447			Sh3rf1 (MGI:1913066)
chr4	169200001	190214555	4q33-qter		607258	HCA1	Hypercalciuria, absorptive, 1		266790			Hypercalciuria, absorptive, 607258 (2)	
chr4	169392809	169612583	4q33	4q33	604588	NEK1, SRTD6, SRPS2A, ALS24, OFD2	NIMA-related kinase 1	NEK1	4750	ENSG00000137601	1 patient showed heterozygous NEK2 and DYNC2H1 mutations; mutation identified in 1 OFD2 family	Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3), Digenic recessive, Autosomal recessive; ?Orofaciodigital syndrome II, 252100 (3), Autosomal recessive; {Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3), Autosomal dominant	Nek1 (MGI:97303)
chr4	169620578	169723673	4q33	4q33	600580	CLCN3, NEDHYBA, NEDSBA	Chloride channel-3	CLCN3	1182	ENSG00000109572	mutation identified in 1 NEDSBA family	Neurodevelopmental disorder with seizures and brain abnormalities, 619517 (3), Autosomal recessive; Neurodevelopmental disorder with hypotonia and brain abnormalities, 619512 (3), Autosomal dominant	Clcn3 (MGI:103555)
chr4	169729470	169757944	4q33	4q33	616614	HPF1, C4orf27	Histone PARylation factor 1	HPF1	54969	ENSG00000056050			Hpf1 (MGI:1919862)
chr4	169986602	170027277	4q32.3	4q33	616523	MFAP3L, KIAA0626	Microfibrillar-associated protein 3-like	MFAP3L	9848	ENSG00000198948			Mfap3l (MGI:1918556)
chr4	170060222	170094292	4q32.2	4q33	611754	AADAT, KAT2	Alpha-aminoadipate aminotransferase	AADAT	51166	ENSG00000109576			Aadat (MGI:1345167)
chr4	171813404	173041559	4q34.1	4q34.1	615138	GALNTL6, GALNACT20	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	GALNTL6	442117	ENSG00000174473			Galntl6 (MGI:1913581)
chr4	173168811	173323967	4q31.1	4q34.1	605005	GALNT7	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7	GALNT7	51809	ENSG00000109586			Galnt7 (MGI:1349449)
chr4	173331376	173334358	4q31	4q34.1	163906	HMGB2, HMG2	High-mobility group box 2 (high-mobility group (nonhistone chromosomal) protein 2)	HMGB2	3148	ENSG00000164104			Hmgb2 (MGI:96157)
chr4	173370954	173377532	4q34.1	4q34.1	603378	SAP30	SIN3-associated polypeptide, 30kD	SAP30	8819	ENSG00000164105			Sap30 (MGI:1929129)
chr4	173384701	173519144	4q34.1	4q34.1	603163	SCRG1	Scraptie-responsive gene 1	SCRG1	11341	ENSG00000164106			Scrg1 (MGI:1328308)
chr4	173526091	173530229	4q33	4q34.1	602407	HAND2, DHAND2, DHAND	Heart- and neural crest derivative-expressed 2	HAND2	9464	ENSG00000164107			Hand2 (MGI:103580)
chr4	173528600	173591255	4q34.1	4q34.1	617240	HAND2AS1, UPH, DEIN	HAND2 antisense RNA 1, noncoding (Upperhand)	HAND2-AS1	79804	ENSG00000237125			
chr4	173615736	173616842	4q33-q34.1	4q34.1	116960	MORF4, SEN1, CSRB	Mortality factor 4, pseudogene	MORF4	10934				
chr4	174236658	174283667	4q34.1	4q34.1	605649	FBXO8, FBX8, FBS	F-box only protein 8	FBXO8	26269	ENSG00000164117			Fbxo8 (MGI:1354696)
chr4	174283706	174333381	4q34.1	4q34.1	620217	CEP44	Centrosomal protein, 44kD	CEP44	80817	ENSG00000164118			Cep44 (MGI:3525111)
chr4	174423795	174423864	4q34.1	4q34.1	616274	MIR4276	Micro RNA 4276	MIR4276	100423042	ENSG00000265846			
chr4	174490175	174522893	4q34-q35	4q34.1	601688	HPGD, PGDH1, PHOAR1	Hydroxyprostaglandin dehydrogenase 15-(NAD)	HPGD	3248	ENSG00000164120	mutation identified in 1 DIGC family	?Digital clubbing, isolated congenital, 119900 (3), Autosomal recessive; Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3), Autosomal recessive; Cranioosteoarthropathy, 259100 (3), Autosomal recessive	Hpgd (MGI:108085)
chr4	174636920	174829247	4q33-q34	4q34.1	600421	GLRA3	Glycine receptor, alpha-3 polypeptide	GLRA3	8001	ENSG00000145451			Glra3 (MGI:95749)
chr4	174918358	174978180	4q34	4q34.1	604778	ADAM29	ADAM metallopeptidase domain 29	ADAM29	11086	ENSG00000168594			Adam29 (MGI:2676326)
chr4	175632937	176002393	4q34	4q34.2	601275	GPM6A, M6A	Glycoprotein M6A	GPM6A	2823	ENSG00000150625			Gpm6a (MGI:107671)
chr4	176065841	176182815	4q34	4q34.2	609005	WDR17	WD repeat-containing protein 17	WDR17	116966	ENSG00000150627			Wdr17 (MGI:1924662)
chr4	176184579	176195585	4q34.1-q34.2	4q34.2	609879	SPATA4, TSARG2	Spermatogenesis-associated protein 4	SPATA4	132851	ENSG00000150628			Spata4 (MGI:1916531)
chr4	176213673	176277524	4q34.2	4q34.2	615050	ASB5	Ankyrin repeat- and SOCS box-containing protein 5	ASB5	140458	ENSG00000164122			Asb5 (MGI:1923544)
chr4	176319966	176332245	4q34.2	4q34.2	618854	SPCS3, SPC3, SPC22, SPC23	Signal peptidase complex, subunit 3	SPCS3	60559	ENSG00000129128			Spcs3 (MGI:1923937)
chr4	176600001	190214555	4q34.3-q35.2		600361	HMSN5	Hereditary motor and sensory neuropathy V		101059903		D4S1552 and D4S2930	Hereditary motor and sensory neuropathy V, 600361 (2), Autosomal dominant	
chr4	176600001	186200000	4q34.3-q35.1		613371	SCA30	Spinocerebellar ataxia 30		100359393		between rs1397413 and rs2175476; max lod 3.0	?Spinocerebellar ataxia 30, 613371 (2), Autosomal dominant	
chr4	176683538	176792922	4q34.3	4q34.3	601528	VEGFC, VRP, LMPHM4	Vascular endothelial growth factor C	VEGFC	7424	ENSG00000150630		Lymphatic malformation 4, 615907 (3), Autosomal dominant	Vegfc (MGI:109124)
chr4	177309874	177371268	4q34.3	4q34.3	608934	NEIL3, NEI3, FGP2	Endonuclease VIII-like 3	NEIL3	55247	ENSG00000109674			Neil3 (MGI:2384588)
chr4	177430774	177442437	4q32-q33	4q34.3	613228	AGA	Aspartylglucosaminidase	AGA	175	ENSG00000038002		Aspartylglucosaminuria, 208400 (3), Autosomal recessive	Aga (MGI:104873)
chr4	181447613	182803024	4q35.1	4q34.3-q35.1	610083	TENM3, ODZ3, TNM3, KIAA1455, MCOPCB9, MCOPS15	Teneurin transmembrane protein 3	TENM3	55714	ENSG00000218336	mutation identified in 1 MCOPCB9 family	Microphthalmia, syndromic 15, 615145 (3), Autosomal recessive; ?Microphthalmia/coloboma 9, 615145 (3), Autosomal recessive	Tenm3 (MGI:1345183)
chr4	182300001	190214555	4q35-qter		606282	DFNA24	Deafness, autosomal dominant 24		23723			Deafness, autosomal dominant 24, 606282 (2), Autosomal dominant	
chr4	182300001	190214555	4q35		127600	DKBI	Dyskeratosis, hereditary benign intraepithelial		80870			Dyskeratosis, hereditary benign intraepithelial, 127600 (2), Autosomal dominant	
chr4	182300001	190214555	4q35		158900	FSHD1, FSHD1A	Facioscapulohumeral muscular dystrophy 1				due to D4Z4 macrosatellite repeat on 4q35	Facioscapulohumeral muscular dystrophy 1, 158900 (4), Autosomal dominant	
chr4	182890091	182917611	4q35	4q35.1	607638	DCTD	Deoxycytidylate deaminase	DCTD	1635	ENSG00000129187			Dctd (MGI:2444529)
chr4	183099257	183320777	4q35.1	4q35.1	620110	WWC2	WW and C2 domains-containing protein 2	WWC2	80014	ENSG00000151718			Wwc2 (MGI:1261872)
chr4	183233628	183240634	4q35.1	4q35.1	620088	WWC2AS1	WWC2 antisense RNA 1, noncoding	WWC2-AS1	101928734	ENSG00000251128			
chr4	183318100	183320276	4q35.1	4q35.1	620566	CLDN22	Claudin 22	CLDN22	53842	ENSG00000177300			Cldn22 (MGI:1922927)
chr4	183444636	183449064	4q35.1	4q35.1	615914	CDKN2AIP, CARF	Cyclin-dependent kinase inhibitor 2A-interacting protein	CDKN2AIP	55602	ENSG00000168564			Cdkn2aip (MGI:1918175)
chr4	183505058	183512429	4q35.1	4q35.1	604215	ING2, ING1L	Inhibitor of growth 2	ING2	3622	ENSG00000168556			Ing2 (MGI:1916510)
chr4	183659293	183713589	4q35.1	4q35.1	614138	TRAPPC11, C4orf41, LGMDR18	Trafficking protein particle complex, subunit 11	TRAPPC11	60684	ENSG00000168538		Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3), Autosomal recessive	Trappc11 (MGI:2444585)
chr4	183798022	184023530	4q35	4q35.1	617359	STOX2, KIAA1392	Storkhead box 2	STOX2	56977	ENSG00000173320			Stox2 (MGI:1918319)
chr4	184088706	184217873	4q35.1	4q35.1	616983	ENPP6	Ectonucleotide pyrophosphatase/phosphodiesterase 6	ENPP6	133121	ENSG00000164303			Enpp6 (MGI:2445171)
chr4	184387729	184474550	4q35.1	4q35.1	147576	IRF2	Interferon regulatory factor-2	IRF2	3660	ENSG00000168310			Irf2 (MGI:96591)
chr4	184627696	184649447	4q35	4q35.1	600636	CASP3, CPP32	Caspase 3, apoptosis-related cysteine protease	CASP3	836	ENSG00000164305			Casp3 (MGI:107739)
chr4	184649738	184694952	4q35.1	4q35.1	615421	PRIMPOL, CCDC111, MYP22	Primase and DNA directed polymerase	PRIMPOL	201973	ENSG00000164306		Myopia 22, autosomal dominant, 615420 (3), Autosomal dominant	Primpol (MGI:3603756)
chr4	184694085	184734096	4q35.1	4q35.1	611511	MLF1IP, CENPU, CENP50	MLF1-interacting protein (centromere protein U)	CENPU	79682	ENSG00000151725			Cenpu (MGI:1919126)
chr4	184755595	184826594	4q34-q35	4q35.1	152425	ACSL1, FACL2, FACL1, LACS, ACS1	Acyl-CoA synthetase long-chain family member 1	ACSL1	2180	ENSG00000151726			Acsl1 (MGI:102797)
chr4	185018490	185020953	4q35.1	4q35.1	617546	HELT, HESL, MGN	HELT basic helix-loop-helix transcription factor	HELT	391723	ENSG00000187821			Helt (MGI:3040955)
chr4	185143266	185150382	4q35	4q35.1	103220	SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2	Solute carrier family 25 (mitochondrial carrier) member 4 (adenine nucleotide translocator-1, skeletal muscle)	SLC25A4	291	ENSG00000151729		Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3), Autosomal dominant	Slc25a4 (MGI:1353495)
chr4	185159665	185210248	4q35.1	4q35.1	616047	CFAP97, HMW, KIAA1430	Cilia- and flagella-associated protein 97	CFAP97	57587	ENSG00000164323			Cfap97 (MGI:1914006)
chr4	185204237	185378642	4q35	4q35.1	620961	SNX25	Sorting nexin 25	SNX25	83891	ENSG00000109762			Snx25 (MGI:2142610)
chr4	185363872	185397287	4q35.1	4q35.1	619020	LRP2BP, MEGBP	LRP2-binding protein	LRP2BP	55805	ENSG00000109771			Lrp2bp (MGI:1914870)
chr4	185396841	185400723	4q35	4q35.1	619021	ANKRD37	Ankyrin repeat domain-containing protein 37	ANKRD37	353322	ENSG00000186352			Ankrd37 (MGI:3603344)
chr4	185399537	185425964	4q35.1	4q35.1	611482	UFSP2, C4orf20, BHD, SEMDDR, DEE106	UFM1-specific peptidase 2	UFSP2	55325	ENSG00000109775	mutation identified in 1 BHD family	?Hip dysplasia, Beukes type, 142669 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3), Autosomal dominant; Developmental and epileptic encephalopathy 106, 620028 (3), Autosomal recessive	Ufsp2 (MGI:1913679)
chr4	185445182	185471733	4q35.1	4q35.1	609488	KMHN1	Cancer/testis antigen KM-HN-1	CCDC110	256309	ENSG00000168491			Ccdc110 (MGI:2685018)
chr4	185500660	185535507	4q35	4q35.1	605889	ALP	Actinin-associated LIM protein	PDLIM3	27295	ENSG00000154553			Pdlim3 (MGI:1859274)
chr4	185585523	185956372	4q35.1	4q35.1	616349	SORBS2, ARGBP2, KIAA0777	Sorbin and SH3 domains-containing protein 2	SORBS2	8470	ENSG00000154556			Sorbs2 (MGI:1924574)
chr4	186069156	186088073	4q35	4q35.1	603029	TLR3, IMD83	Toll-like receptor-3	TLR3	7098	ENSG00000164342		{HIV1 infection, resistance to}, 609423 (3); {Immunodeficiency 83, susceptibility to viral infections}, 613002 (3), Autosomal recessive, Autosomal dominant	Tlr3 (MGI:2156367)
chr4	186191567	186213463	4q35.1	4q35.1-q35.2	608614	CYP4V2, BCD	Cytochrome P450, family 4, subfamily V, polypeptide 2	CYP4V2	285440	ENSG00000145476		Bietti crystalline corneoretinal dystrophy, 210370 (3), Autosomal recessive	Cyp4v3 (MGI:2142763)
chr4	186210853	186258471	4q35	4q35.2	229000	KLKB1, KLK3, PKKD	Kallikrein B plasma 1 (Fletcher factor)	KLKB1	3818	ENSG00000164344	similar to F11	Fletcher factor (prekallikrein) deficiency, 612423 (3), Autosomal recessive	Klkb1 (MGI:102849)
chr4	186266189	186289681	4q35	4q35.2	264900	F11	Coagulation factor XI (plasma thromboplastin antecedent)	F11	2160	ENSG00000088926	not closely linked to MNS	Factor XI deficiency, autosomal dominant, 612416 (3); Factor XI deficiency, autosomal recessive, 612416 (3)	F11 (MGI:99481)
chr4	186533655	186555567	4q35.1	4q35.2	600665	MTNR1A	Melatonin receptor 1A	MTNR1A	4543	ENSG00000168412			Mtnr1a (MGI:102967)
chr4	186587794	186726696	4q34-q35	4q35.2	600976	FAT1, FAT	FAT atypical cadherin 1	FAT1	2195	ENSG00000083857			Fat1 (MGI:109168)
chr4	187995771	188005246	4q35.2	4q35.2	614572	ZFP42, REX1	Zinc finger protein 42	ZFP42	132625	ENSG00000179059			Zfp42 (MGI:99187)
chr4	188091272	188109603	4q35.2	4q35.2	620480	TRIML2	Tripartite motif family like-protein 2	TRIML2	205860	ENSG00000179046			Triml2 (MGI:3642989)
chr4	188137229	188150767	4q35.2	4q35.2	620979	TRIML1	Tripartite motif family-like protein 1	TRIML1	339976	ENSG00000184108			Triml1 (MGI:2687279)
chr4	189940872	189963192	4q35	4q35.2	601278	FRG1, FSG1	Facioscapulohumeral muscular dystrophy region gene-1	FRG1	2483	ENSG00000109536			Frg1 (MGI:893597)
chr4	190021169	190022665	4q35	4q35.2	615581	DUX4L9, DUX4C	Double homeobox 4-like 9	DUX4L9	100288711	ENSG00000224807			
chr4	190024367	190027256	4q35	4q35.2	609032	FRG2	Facioscapulohumeral muscular dystrophy region gene 2	FRG2	448831	ENSG00000205097			Frg2f1,Frg2f10,Frg2f11,Frg2f12,Frg2f13,Frg2f2,Frg2f3,Frg2f4,Frg2f5,Frg2f6,Frg2f7,Frg2f8,Frg2f9 (MGI:3035485,MGI:3643939,MGI:3643940,MGI:3644083,MGI:3647962,MGI:3647970,MGI:3648177,MGI:3648470,MGI:3779574,MGI:3779576,MGI:3782845,MGI:3782846,MGI:3805017)
chr4	190064502	190067864	4q35	4q35.2	614865	DBET	D4A4 binding element transcript, noncoding	DBET	100419743	ENSG00000281591			
chr4	190067935	190069219	4q35.2	4q35.2	611442	DUX2	Double homeobox protein 2	DUX4L8	26583	ENSG00000281720	?10q26.3		
chr4	190173774	190185911	4q35	4q35.2	606009	DUX4	Double homeobox protein 4	DUX4	100288687	ENSG00000260596			
chr4	1	190214555	Chr.4		187320	TS13	Temperature sensitivity complementation, ts13		7896				
chr5	1	48800001	5p		108800	ASD1	Atrial septal defect 1		431		max lod at D5S406	Atrial septal defect 1, 108800 (2), Autosomal dominant	
chr5	1	4400000	5p15.33		613059	BCC3	Basal cell carcinoma, susceptibility to, 3		100307120			{Basal cell carcinoma, susceptibility to, 3}, 613059 (2)	
chr5	1	4400000	5p15.33		613033	GLM8	Glioma susceptibility 8		100316847		associated with rs2736100	{Glioma susceptibility 8}, 613033 (2)	
chr5	1	4400000	5p15.33		612571	LNCR3	Lung cancer susceptibility 3		100271687		associated with rs402710 and rs2736100	{Lung cancer susceptibility 3}, 612571 (2)	
chr5	1	48800001	5p		601888	MHS6	Malignant hyperthermia susceptibility 6		4266			{Malignant hyperthermia susceptibility 6}, 601888 (2)	
chr5	1	15000000	5p15.33-p15.2		612554	MYP16	Myopia 16		100270641		max lod at D5S2505	Myopia 16, 612554 (2)	
chr5	1	18400000	5p15		613637	TST2	Tuberculin skin test reactivity quantitative trait locus		100526823		max lod at 16:2.70Mb	[Tuberculin skin test reactivity QTL], 613637 (2)	
chr5	92168	189966	5p15.33	5p15.33	620665	PLEKHG4B	Pleckstrin homology domain- and RhoGEF domain-containing protein G4B	PLEKHG4B	153478	ENSG00000153404			
chr5	218320	268746	5p15	5p15.33	600857	SDHA, SDH1, SDHF, CMD1GG, PPGL5, MC2DN1, NDAXOA	Succinate dehydrogenase complex, flavoprotein subunit A	SDHA	6389	ENSG00000073578	copy on 3q29	Cardiomyopathy, dilated, 1GG, 613642 (3), Autosomal recessive; Mitochondrial complex II deficiency, nuclear type 1, 252011 (3), Autosomal recessive; Neurodegeneration with ataxia and late-onset optic atrophy, 619259 (3), Autosomal dominant; Pheochromocytoma/paraganglioma syndrome 5, 614165 (3), Autosomal dominant	Sdha (MGI:1914195)
chr5	271646	314974	5p15.33	5p15.33	601057	PDCD6, ALG2	Programmed cell death 6	PDCD6	10016	ENSG00000249915			Pdcd6 (MGI:109283)
chr5	321714	438285	5p15.3	5p15.33	606517	AHRR, KIAA1234	Arylhydrocarbon receptor repressor	AHRR	57491	ENSG00000063438			Ahrr (MGI:1333776)
chr5	443176	467290	5p15.33	5p15.33	608186	EXOC3, SEC6	Exocyst complex component 3	EXOC3	11336	ENSG00000180104			Exoc3 (MGI:2443972)
chr5	470456	524449	5p15.3	5p15.33	182307	SLC9A3, NHE3, DIAR8	Solute carrier family 9 (sodium/hydrogen exchanger), member 3	SLC9A3	6550	ENSG00000066230	pseudogene on chr.10	Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive	Slc9a3 (MGI:105064)
chr5	612340	676616	5p15.33	5p15.33	616475	CEP72, KIAA1519	Centrosomal protein, 72kD	CEP72	55722	ENSG00000112877			Cep72 (MGI:1921720)
chr5	659862	700727	5p15.3	5p15.33	608773	TPPP, P25, P24	Tubulin polymerization-promoting protein	TPPP	11076	ENSG00000171368			Tppp (MGI:1920198)
chr5	863741	892801	5p15.33	5p15.33	618465	BRD9	Bromodomain-containing protein 9	BRD9	65980	ENSG00000028310			Brd9 (MGI:2145317)
chr5	892884	919348	5p15.33	5p15.33	604507	TRIP13, 16E1BP, MVA3, OZEMA9	Thyroid hormone receptor interactor 13	TRIP13	9319	ENSG00000071539		Oocyte/zygote/embryo maturation arrest 9, 619011 (3), Autosomal recessive; Mosaic variegated aneuploidy syndrome 3, 617598 (3), Autosomal recessive	Trip13 (MGI:1916966)
chr5	1008802	1038943	5p15.3	5p15.33	607852	NKD2	NKD inhibitor of WNT signaling pathway 2	NKD2	85409	ENSG00000145506			Nkd2 (MGI:1919543)
chr5	1050384	1155899	5p15.3	5p15.33	604879	SLC12A7, KCC4	Solute carrier family 12 (potassium/chloride transporters), member 7	SLC12A7	10723	ENSG00000113504			Slc12a7 (MGI:1342283)
chr5	1201595	1225111	5p15.33	5p15.33	608893	SLC6A19, HND	Solute carrier family 6 (neurotransmitter transporter), member 19	SLC6A19	340024	ENSG00000174358		Hartnup disorder, 234500 (3), Autosomal recessive	Slc6a19 (MGI:1921588)
chr5	1225381	1246189	5p15.33	5p15.33	610300	SLC6A18, XTRP2	Solute carrier family 6 (neurotransmitter transporter), member 18	SLC6A18	348932	ENSG00000164363			Slc6a18 (MGI:1336892)
chr5	1253167	1295068	5p15.33	5p15.33	187270	TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9	Telomerase reverse transcriptase	TERT	7015	ENSG00000164362	deleted in cri du chat	Dyskeratosis congenita, autosomal dominant 2, 613989 (3), Autosomal recessive, Autosomal dominant; Dyskeratosis congenita, autosomal recessive 4, 613989 (3), Autosomal recessive, Autosomal dominant; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, 614742 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 9}, 615134 (3), Autosomal dominant; {Leukemia, acute myeloid}, 601626 (3), Somatic mutation, Autosomal dominant	Tert (MGI:1202709)
chr5	1317752	1345099	5p15.33	5p15.33	612585	CLPTM1L, CRR9	CLPTM1-like protein	CLPTM1L	81037	ENSG00000049656			Clptm1l (MGI:2442892)
chr5	1392794	1445440	5p15.3	5p15.33	126455	SLC6A3, DAT1, PKDYS1	Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	SLC6A3	6531	ENSG00000142319		Parkinsonism-dystonia, infantile, 1, 613135 (3), Autosomal recessive; {Nicotine dependence, protection against}, 188890 (3)	Slc6a3 (MGI:94862)
chr5	1461427	1523960	5p15.33	5p15.33	610472	AYTL2, LPCAT, LPCAT1	Acyltransferase-like 2	LPCAT1	79888	ENSG00000153395			Lpcat1 (MGI:2384812)
chr5	1798385	1801434	5p15.3	5p15.33	611842	MRPL36	Mitochondrial ribosomal protein L36	MRPL36	64979	ENSG00000171421			Mrpl36 (MGI:2137228)
chr5	1801407	1816048	5pter-p15.33	5p15.33	603848	NDUFS6, MC1DN9	NADH-ubiquinone oxidoreductase subunit S6	NDUFS6	4726	ENSG00000145494		Mitochondrial complex I deficiency, nuclear type 9, 618232 (3), Autosomal recessive	Ndufs6,Ndufs6b (MGI:107932,MGI:3648526)
chr5	1877413	1887179	5p15.33	5p15.33	606199	IRX4	Iroquois homeobox protein 4	IRX4	50805	ENSG00000113430			Irx4 (MGI:1355275)
chr5	2712591	2715237	5p15.33	5p15.33	615764	LSINCT5	Long stress-induced noncoding transcript 5	LSINCT5	101234261	ENSG00000281560			
chr5	2735635	2751677	5p15.33	5p15.33	606198	IRX2	Iroquois homeobox protein 2	IRX2	153572	ENSG00000170561			Irx2 (MGI:1197526)
chr5	2751893	2758578	5p15.33	5p15.33	610522	CEI	Coordinated expression to IRXA2	IRX2-DT	153571				
chr5	3595832	3601403	5p15.33	5p15.33	606197	IRX1	Iroquois homeobox protein 1	IRX1	79192	ENSG00000170549			Irx1 (MGI:1197515)
chr5	4400001	6300000	5p15.32		608850	MCDR3	Macular dystrophy, retinal, 3				duplication of cis regulatory element cCRE10 downstream of IRX1	Macular dystrophy, retinal, 3, 608850 (4), Autosomal dominant	
chr5	5140330	5320304	5p15	5p15.32	607510	ADAMTS16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	ADAMTS16	170690	ENSG00000145536			Adamts16 (MGI:2429637)
chr5	5422677	5490220	5p15.32	5p15.32	617958	ICE1, KIAA0947	Interactor of little elongation complex ELL subunit 1	ICE1	23379	ENSG00000164151			Ice1 (MGI:2385865)
chr5	6371874	6378547	5p15.31	5p15.31	612382	MED10, NUT2	Mediator complex subunit 10	MED10	84246	ENSG00000133398			Med10 (MGI:106331)
chr5	6448859	6496723	5p15.3	5p15.31	615832	UBE2QL1	Ubiquitin-conjugating enzyme E2Q family-like protein 1	UBE2QL1	134111	ENSG00000215218			Ube2ql1 (MGI:1924230)
chr5	6582136	6588500	5p15.31	5p15.31	616385	LINC01018, SRHC	Long intergenic noncoding RNA 1018	LINC01018	255167	ENSG00000250056			
chr5	6599239	6633044	5p15.31	5p15.31	610916	NSUN2, TRM4, SAKI, MISU, MRT5	NOP2/SUN RNA methyltransferase family, member 2	NSUN2	54888	ENSG00000037474		Intellectual developmental disorder, autosomal recessive 5, 611091 (3), Autosomal recessive	Nsun2 (MGI:107252)
chr5	6633440	6674386	5p15	5p15.31	184753	SRD5A1	Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	SRD5A1	6715	ENSG00000145545	pseudogene on X		Srd5a1 (MGI:98400)
chr5	6713432	6757044	5p15	5p15.31	605198	TENT4A, POLS, TRF4, POLK	Terminal nucleotidyltransferase 4A	TENT4A	11044	ENSG00000112941			Tent4a (MGI:2682295)
chr5	7396138	7830081	5p15.3	5p15.31	103071	ADCY2	Adenylyl cyclase-2, brain	ADCY2	108	ENSG00000078295			Adcy2 (MGI:99676)
chr5	7850859	7901113	5p15.3-p15.2	5p15.31	602568	MTRR	Methionine synthase reductase	MTRR	4552	ENSG00000124275		Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive	Mtrr (MGI:1891037)
chr5	7859159	7869031	5p15.31	5p15.31	617530	FASTKD3	Fast kinase domains 3	FASTKD3	79072	ENSG00000124279			Fastkd3 (MGI:1916827)
chr5	9035033	9546075	5p15.2	5p15.31	609297	SEMA5A, SEMF	Semaphorin 5a	SEMA5A	9037	ENSG00000112902			Sema5a (MGI:107556)
chr5	9627347	9903876	5p15	5p15.31-p15.2	604796	TRB7, T2R1	Taste receptor, family B, member 7	TAS2R1	50834	ENSG00000169777			Tas2r119 (MGI:2681253)
chr5	9900001	28900000	5p15.2-p14		606770	ADIPQTL2, CAQ5	Adiponectin, serum level of, QTL 2		171511		near D5S817	{Adiponectin, serum level of, QTL2}, 606770 (2)	
chr5	9900001	23300000	5p15.2-p14.3		610213	ANIB4	Aneurysm, intracranial berry, 4		724058		max lod at D5S1954	Aneurysm, intracranial berry, 4, 610213 (2)	
chr5	10225507	10249888	5p15.2	5p15.2	618568	ATPSCKMT, FAM173B	ATP synthase C subunit lysine N-methyltransferase	ATPSCKMT	134145	ENSG00000150756			Atpsckmt (MGI:1915323)
chr5	10249921	10266412	5p15.2	5p15.2	610150	CCT5, KIAA0098, CCTE, HSNSP	chaperonin containing TCP1, subunit 5 (epsilon)	CCT5	22948	ENSG00000150753	mutation identified in 1 HSNSP family	?Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3), Autosomal recessive	Cct5 (MGI:107185)
chr5	10277595	10307902	5p15.2	5p15.2	613379	CMBL	Carboxymethylenebutenolidase-like protein	CMBL	134147	ENSG00000164237			Cmbl (MGI:1916824)
chr5	10353695	10440388	5p15.2	5p15.2	613297	MARCH6, TEB4, DOA10, KIAA0597, FAME3	Membrane-associated RING-CH finger protein 6	MARCHF6	10299	ENSG00000145495		Epilepsy, familial adult myoclonic, 3, 613608 (3), Autosomal dominant	Marchf6 (MGI:2442773)
chr5	10441879	10482807	5p15.2	5p15.2	611756	ROPN1L, ASP	ROPN1-like protein	ROPN1L	83853	ENSG00000145491			Ropn1l (MGI:2182357)
chr5	10679230	10761234	5p15.2	5p15.2	600954	DAP	Death-associated protein	DAP	1611	ENSG00000112977			Dap (MGI:1918190)
chr5	10971836	11904446	5p15.2	5p15.2	604275	CTNND2, NPRAP	Catenin, delta-2	CTNND2	1501	ENSG00000169862			Ctnnd2 (MGI:1195966)
chr5	12574857	12805183	5p15.2	5p15.2	617097	LINC01194, TAG	Long intergenic noncoding RNA 1194	LINC01194	404663	ENSG00000248131			
chr5	13690328	14011818	5p15-p14	5p15.2	603335	DNAH5, HL1, PCD, CILD3	Dynein, axonemal, heavy chain 5	DNAH5	1767	ENSG00000039139		Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3), Autosomal recessive	Dnah5 (MGI:107718)
chr5	14143342	14510204	5p15.1-p14	5p15.2	601893	TRIO, MRD44, MRD63	Triple functional domain	TRIO	7204	ENSG00000038382		Intellectual developmental disorder, autosomal dominant 44, with microcephaly, 617061 (3), Autosomal dominant; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, 618825 (3), Autosomal dominant	Trio (MGI:1927230)
chr5	14664718	14716525	5p15.2	5p15.2	615712	OTULIN, FAM105B, GUM, AIPDS, IMD107, AIPDSA	OTU deubiquitinase with linear linkage specificity	OTULIN	90268	ENSG00000154124		Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, 617099 (3), Autosomal recessive; {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, 619986 (3), Autosomal dominant; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, 621030 (3), Autosomal dominant	Otulin (MGI:3577015)
chr5	14704800	14871778	5p15.2-p14.1	5p15.2	605145	ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD	ANKH inorganic pyrophosphate transport regulator	ANKH	56172	ENSG00000154122		Chondrocalcinosis 2, 118600 (3), Autosomal dominant; Craniometaphyseal dysplasia, 123000 (3), Autosomal dominant	Ank (MGI:3045421)
chr5	15000001	33800000	5p15.1-p13.3		613969	MYP19	Myopia 19, autosomal dominant		100653370		highest lod at D5S419	Myopia 19, 613969 (2), Autosomal dominant	
chr5	15000001	18400000	5p15.1		608098	PVNH3	Periventricular nodular heterotopia 3		100302681			Periventricular nodular heterotopia 3, 608098 (2)	
chr5	15500180	15939793	5p15.1	5p15.1	605656	FBXL7, FBL7	F-box and leucine-rich repeat protein 7	FBXL7	23194	ENSG00000183580			Fbxl7 (MGI:3052506)
chr5	15935182	15935260	5p15.1	5p15.1	620117	MIR887	Micro RNA 887	MIR887	100126347	ENSG00000216077			
chr5	16067139	16179791	5p15.1	5p15.1	613338	MARCH11	Membrane-associated RING-CH finger protein 11	MARCHF11	441061	ENSG00000183654			Marchf11 (MGI:3608327)
chr5	16451519	16465800	5p15.1	5p15.1	608694	ZNF622, ZPR9	Zinc finger protein 622	ZNF622	90441	ENSG00000173545			Zfp622 (MGI:1289282)
chr5	16473053	16616997	5p15.1	5p15.1	613114	RETREG1, FAM134B, HSAN2B	Reticulophagy regulator 1	RETREG1	54463	ENSG00000154153		Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3), Autosomal recessive	Retreg1 (MGI:1913520)
chr5	16661907	16936288	5p15.1-p14.3	5p15.1	601481	MYO10	Myosin X	MYO10	4651	ENSG00000145555			Myo10 (MGI:107716)
chr5	17216823	17276834	5p15.1-p14	5p15.1	605940	BASP1, CAP23, NAP22	Brain-abundant signal protein, membrane-attached, 1	BASP1	10409	ENSG00000176788			Basp1 (MGI:1917600)
chr5	18400001	28900000	5p14		157960	MLVI2	Moloney leukemia virus integration site-2		4309				
chr5	19471296	20575713	5p15.2-p15.1	5p14.3	603019	CDH18, CDH14	Cadherin 18	CDH18	1016	ENSG00000145526			Cdh18 (MGI:1344366)
chr5	21750673	22853344	5p14-p13	5p14.3	600562	CDH12, CDHB	Cadherin-12 (N-cadherin 2)	CDH12	1010	ENSG00000154162	pseudogene on 5q13 in SMA region		Cdh12 (MGI:109503)
chr5	22142352	22152272	5p14	5p14.3	176793	PMCHL1	Pro-melanin-concentrating hormone-like 1	PMCHL1	5369	ENSG00000290530			
chr5	23507155	23528093	5p14.2	5p14.2	609760	PRDM9	PR domain-containing protein 9	PRDM9	56979	ENSG00000164256			Prdm9 (MGI:2384854)
chr5	24487100	24644978	5p14-p13	5p14.2-p14.1	604555	CDH10	Cadherin 10	CDH10	1008	ENSG00000040731			Cdh10 (MGI:107436)
chr5	25126305	25190656	5p14.1	5p14.1	620525	LINC02228, HIKER	Long intergenic noncoding RNA 2228	LINC02228	105374694				
chr5	26880597	27038586	5p14	5p14.1	609974	CDH9	Cadherin 9	CDH9	1007	ENSG00000113100			Cdh9 (MGI:107433)
chr5	28900001	42500000	5p13		608906	ADHD4	Attention deficit-hyperactivity disorder, susceptibility to, 4		450090			{Attention deficit-hyperactivity disorder, susceptibility to, 4}, 608906 (2)	
chr5	28900001	38400000	5p13.3-p13.2		607004	BDA1B	Brachydactyly, type A1, locus B		246260			Brachydactyly, type A1, B, 607004 (2), Autosomal dominant	
chr5	28900001	42500000	5p13		613174	DUP5p13, C5DUPp13	Chromosome 5p13 duplication syndrome					Chromosome 5p13 duplication syndrome, 613174 (4), Isolated cases	
chr5	28900001	67400000	5p13-q12		610262	HYT6	Hypertension, essential, susceptibility to, 6		100188808			{Hypertension, essential, susceptibility to, 6}, 145500 (2), Multifactorial	
chr5	28900001	42500000	5p13		610170	KYPSC1	Kyphoscoliosis 1		780921			Kyphoscoliosis 1, 610170 (2)	
chr5	31193686	31329146	5p15.1-p14	5p13.3	603007	CDH6	Cadherin 6	CDH6	1004	ENSG00000113361			Cdh6 (MGI:107435)
chr5	31400494	31532093	5p14-p13	5p13.3	608828	DROSHA, RNASEN, RANSE3L, RN3	Drosha ribonuclease III	DROSHA	29102	ENSG00000113360			Drosha (MGI:1261425)
chr5	31639131	32110932	5p13.2	5p13.3	610697	PDZD2, PAPIN, PIN1, AIPC	PDZ domain containing 2	PDZD2	23037	ENSG00000133401			Pdzd2 (MGI:1922394)
chr5	32124716	32174319	5p13.3	5p13.3	612207	GOLPH3, GPP34, MIDAS	Golgi phosphoprotein 3	GOLPH3	64083	ENSG00000113384			Golph3 (MGI:1913879)
chr5	32227007	32312939	5p13.3	5p13.3	606501	MTMR12, 3PAP, KIAA1682	Myotubularin-related protein 12	MTMR12	54545	ENSG00000150712			Mtmr12 (MGI:2443034)
chr5	32354350	32444740	5p13.3	5p13.3	615635	ZFR	Zinc finger RNA-binding protein	ZFR	51663	ENSG00000056097			Zfr (MGI:1341890)
chr5	32585557	32604079	5p13.3	5p13.3	600503	SUB1, PC4, p15	SUB1 regulator of transcription	SUB1	10923	ENSG00000113387			Sub1 (MGI:104811)
chr5	32690872	32791720	5p14-p12	5p13.3	108962	NPR3, ANPRC, BOMOS	Natriuretic peptide receptor C	NPR3	4883	ENSG00000113389		Boudin-Mortier syndrome, 619543 (3), Autosomal recessive	Npr3 (MGI:97373)
chr5	33440696	33468091	5p13-cen	5p13.3	187790	TARS1, TARS, TTD7	Threonyl-tRNA synthetase 1	TARS1	6897	ENSG00000113407	linked to LARS	Trichothiodystrophy 7, nonphotosensitive, 618546 (3), Autosomal recessive	Tars1 (MGI:106314)
chr5	33523535	33891990	5q35	5p13.3-p13.2	606184	ADAMTS12	ADAM metallopeptidase with thrombospondin type 1 motif, 12	ADAMTS12	81792	ENSG00000151388			Adamts12 (MGI:2146046)
chr5	33800001	38400000	5p13.2		612595	MS3	Multiple sclerosis, susceptibility to, 3		100271695		associated with rs6897932	{Multiple sclerosis, susceptibility to, 3}, 612595 (2)	
chr5	33936386	33938918	5p15.1-p14	5p13.2	609445	RXFP3, RLN3R1, SALPR, GPCR135	Relaxin/insulin-like family peptide receptor 3	RXFP3	51289	ENSG00000182631			Rxfp3 (MGI:2441827)
chr5	33944623	33984693	5p13.3	5p13.2	606202	SLC45A2, MATP, AIM1, SHEP5, OCA4	Solute carrier family 45, member 2	SLC45A2	51151	ENSG00000164175		[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3), Autosomal recessive; Albinism, oculocutaneous, type IV, 606574 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3), Autosomal recessive	Slc45a2 (MGI:2153040)
chr5	33986165	34008050	5p13.2-q11.1	5p13.2	604489	AMACR, CBAS4, AMACRD	Alpha-methylacyl-CoA racemase	AMACR	23600	ENSG00000242110		Alpha-methylacyl-CoA racemase deficiency, 614307 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 4, 214950 (3), Autosomal recessive	Amacr (MGI:1098273)
chr5	34017858	34244724	5p13	5p13.2	612045	C1ATNF3, CTRP3, CORS26	C1q- and tumor necrosis factor-related protein 3	C1QTNF3	114899	ENSG00000082196			C1qtnf3 (MGI:1932136)
chr5	34656328	34832612	5p13.3-p13.2	5p13.2	606586	RAI14, KIAA1334	Retinoic acid-induced 14	RAI14	26064	ENSG00000039560			Rai14 (MGI:1922896)
chr5	34839164	34925682	5p13.2	5p13.2	616344	TTC23L	Tetratricopeptide repeat domain-containing protein 23-like	TTC23L	153657	ENSG00000205838			Ttc23l (MGI:1923027)
chr5	34905260	34915504	5p13.3-p13.2	5p13.2	603153	RAD1	RAD1 checkpoint DNA exonuclease	RAD1	5810	ENSG00000113456			Rad1 (MGI:1316678)
chr5	34915711	34925996	5p13.2	5p13.2	618466	BRIX1	Biogenesis of ribosomes BRIX1	BRIX1	55299	ENSG00000113460			Brix1 (MGI:1915082)
chr5	34929559	34958964	5p13.2	5p13.2	617048	DNAJC21, DNAJA5, BMFS3	DNAJ/HSP40 homolog, subfamily C, member 21	DNAJC21	134218	ENSG00000168724		Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive	Dnajc21 (MGI:1925371)
chr5	34998102	35047949	5p13	5p13.2	612471	AGXT2, AGT2, BAIBA	Alanine-glyoxylate aminotransferase 2	AGXT2	64902	ENSG00000113492		[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3), Autosomal recessive	Agxt2 (MGI:2146052)
chr5	35048756	35230487	5p13.2	5p13.2	176761	PRLR, MFAB, HPRL	Prolactin receptor	PRLR	5618	ENSG00000113494		Multiple fibroadenomas of the breast, 615554 (3), Autosomal dominant; Hyperprolactinemia, 615555 (3), Autosomal recessive, Autosomal dominant	Prlr (MGI:97763)
chr5	35617863	35814611	5p13.2	5p13.2	610172	SPEF2, KPL2, KIAA1770, SPGF43	Sperm flagellar protein 2	SPEF2	79925	ENSG00000152582		Spermatogenic failure 43, 618751 (3), Autosomal recessive	Spef2 (MGI:2443727)
chr5	35856891	35879603	5p13	5p13.2	146661	IL7R, IL7RA, CD127, IMD104	Interleukin-7 receptor	IL7R	3575	ENSG00000168685		Immunodeficiency 104, severe combined, 608971 (3), Autosomal recessive	Il7r (MGI:96562)
chr5	35904288	35938779	5p13.2	5p13.2	618799	CAPSL	Calcyphosine-like protein	CAPSL	133690	ENSG00000152611			Capsl (MGI:1922818)
chr5	35951006	36001022	5p13.2	5p13.2	616383	UGT3A1	Uridine diphosphate glucuronosyltransferase 3 family, member A1	UGT3A1	133688	ENSG00000145626			Ugt3a1,Ugt3a2 (MGI:2145969,MGI:2146055)
chr5	36035021	36066882	5p13.2	5p13.2	616384	UGT3A2	Uridine diphosphate glucuronosyltransferase 3 family, member A2	UGT3A2	167127	ENSG00000168671			Ugt3a1,Ugt3a2 (MGI:2145969,MGI:2146055)
chr5	36098407	36151887	5p13.2	5p13.2	619490	LMBRD2, DENBA	LMBR1 domain-containing protein 2	LMBRD2	92255	ENSG00000164187		Developmental delay with variable neurologic and brain abnormalities, 619694 (3), Autosomal dominant	Lmbrd2 (MGI:2444173)
chr5	36152111	36193530	5p13	5p13.2	601436	SKP2	S-phase kinase-associated protein 2 (p45)	SKP2	6502	ENSG00000145604			Skp2 (MGI:1351663)
chr5	36192589	36242279	5p13.2	5p13.2	615787	NADK2, C5orf33, DECRD	NAD kinase 2, mitochondrial	NADK2	133686	ENSG00000152620		2,4-dienoyl-CoA reductase deficiency, 616034 (3), Autosomal recessive	Nadk2 (MGI:1915896)
chr5	36246913	36301902	6p13.2	5p13.2	616391	RANBP3L	RAN-binding protein 3-like	RANBP3L	202151	ENSG00000164188			Ranbp3l (MGI:2444654)
chr5	36606606	36688334	5p13	5p13.2	600111	SLC1A3, EAAT1, EA6	Solute carrier family 1 (glial high affinity glutamate transporter), member 3	SLC1A3	6507	ENSG00000079215		Episodic ataxia, type 6, 612656 (3), Autosomal dominant	Slc1a3 (MGI:99917)
chr5	36876769	37066413	5p13.1	5p13.2	608667	NIPBL, CDLS1	Nipped-B-like (delangin)	NIPBL	25836	ENSG00000164190		Cornelia de Lange syndrome 1, 122470 (3), Autosomal dominant	Nipbl (MGI:1913976)
chr5	37075669	37249376	5p13.2	5p13.2	614571	CPLANE1, C5orf42, JBTS17, OFD6	Ciliogenesis and planar polarity effector complex, subunit 1	CPLANE1	65250	ENSG00000197603		Orofaciodigital syndrome VI, 277170 (3), Autosomal recessive; Joubert syndrome 17, 614615 (3), Autosomal recessive	Cplane1 (MGI:1920942)
chr5	37288137	37371106	5p13	5p13.2	606694	NUP155, KIAA0791, ATFB15	Nucleoporin, 155kD	NUP155	9631	ENSG00000113569	mutation identified in 1 ATFB15 family	?Atrial fibrillation 15, 615770 (3), Autosomal recessive	Nup155 (MGI:2181182)
chr5	37379318	37753435	5p13.2	5p13.2	617233	WDR70	WD repeat-containing protein 70	WDR70	55100	ENSG00000082068			Wdr70 (MGI:1921020)
chr5	37812677	37840041	5p13.1-p12	5p13.2	600837	GDNF, HSCR3	Glial cell line derived neurotrophic factor	GDNF	2668	ENSG00000168621		{Hirschsprung disease, susceptibility to, 3}, 613711 (3), Autosomal dominant	Gdnf (MGI:107430)
chr5	38258559	38465480	5p13.2-p13.1	5p13.2-p13.1	617683	EGFLAM, PIKA, AGRINL	EGF-like, fibronectin type III, and laminin G domains-containing protein	EGFLAM	133584	ENSG00000164318			Egflam (MGI:2146149)
chr5	38400001	42500000	5p13.1		612262	IBD18	Inflammatory bowel disease 18		100190931		associated with rs1373692	{Inflammatory bowel disease 18}, 612262 (2)	
chr5	38474668	38608403	5p13.1	5p13.1	151443	LIFR, STWS, SWS, SJS2	Leukemia inhibitory factor receptor	LIFR	3977	ENSG00000113594		Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3), Autosomal recessive	Lifr (MGI:96788)
chr5	38846012	38945579	5p13.1	5p13.1	601743	OSMR, OSMRB, PLCA1	Oncostatin M receptor	OSMR	9180	ENSG00000145623		Amyloidosis, primary localized cutaneous, 1, 105250 (3), Autosomal dominant	Osmr (MGI:1330819)
chr5	38937920	39074399	5p13.1	5p13.1	609022	RICTOR, AVO3, KIAA1999	Rapamycin-insensitive campion of mTOR	RICTOR	253260	ENSG00000164327			Rictor (MGI:1926007)
chr5	39105252	39274528	5p13.1	5p13.1	602731	FYB1, SLAP130, ADAP, THC3	FYN-binding protein 1	FYB1	2533	ENSG00000082074		Thrombocytopenia 3, 273900 (3), Autosomal recessive	Fyb1 (MGI:1346327)
chr5	39284140	39364495	5p13	5p13.1	120940	C9, C9D, ARMD15	Complement component-9	C9	735	ENSG00000113600		C9 deficiency, 613825 (3); {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3), Autosomal dominant	C9 (MGI:1098282)
chr5	39371677	39424980	5p13	5p13.1	601236	DAB2, DOC2	DAB adaptor protein 2	DAB2	1601	ENSG00000153071			Dab2 (MGI:109175)
chr5	40679915	40746800	5p13.1	5p13.1	601586	PTGER4	Prostaglandin E receptor 4, EP4 subtype	PTGER4	5734	ENSG00000171522			Ptger4 (MGI:104311)
chr5	40759389	40798374	5p12	5p13.1	602739	PRKAA1	Protein kinase, AMP-activated, catalytic, alpha-1	PRKAA1	5562	ENSG00000132356			Prkaa1 (MGI:2145955)
chr5	40825262	40835222	5p	5p13.1	604181	RPL37	Ribosomal protein L37	RPL37	6167	ENSG00000145592			Rpl37,Rpl37rt (MGI:1914531,MGI:3651519)
chr5	40841367	40855354	5p13.1-p12	5p13.1	609986	CARD6, CINCIN1	Caspase recruitment domain-containing protein 6	CARD6	84674	ENSG00000132357			Card6 (MGI:3032959)
chr5	40909497	40984643	5p13	5p13.1	217070	C7	Complement component-7	C7	730	ENSG00000112936		C7 deficiency, 610102 (3)	C7 (MGI:88235)
chr5	40998020	41071342	5p13.1	5p13.1	620930	MROH2B, SPIF	Maestro HEAT-like repeat family, member 2B	MROH2B	133558	ENSG00000171495			Mroh2b (MGI:1921905)
chr5	41142116	41261469	5p13	5p13.1	217050	C6	Complement component-6	C6	729	ENSG00000039537		C6 deficiency, 612446 (3), Autosomal recessive	C6 (MGI:88233)
chr5	41306952	41510601	5p13.1	5p13.1	617016	PLCXD3	Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 3	PLCXD3	345557	ENSG00000182836			Plcxd3 (MGI:2442605)
chr5	41730065	41870425	5p13	5p13.1	601424	OXCT1, OXCT, SCOT	3-oxoacid CoA transferase 1	OXCT1	5019	ENSG00000083720		Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3), Autosomal recessive	Oxct1 (MGI:1914291)
chr5	41904344	41921636	5p13.1	5p13.1	620266	RIMOC1, C5orf51	RAB7A-interacting MON1-CCZ1 complex subunit 1	RIMOC1	285636	ENSG00000205765			Rimoc1 (MGI:2146232)
chr5	41925281	42040404	5p12	5p13.1	609090	FBXO4, FBX4	F-box only protein 4	FBXO4	26272	ENSG00000151876			Fbxo4 (MGI:2146220)
chr5	42423439	42721878	5p13-p12	5p13.1-p12	600946	GHR, GHIP	Growth hormone receptor	GHR	2690	ENSG00000112964		Laron dwarfism, 262500 (3), Autosomal recessive; Increased responsiveness to growth hormone, 604271 (3), Autosomal dominant; Growth hormone insensitivity, partial, 604271 (3), Autosomal dominant; {Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal recessive, Autosomal dominant	Ghr (MGI:95708)
chr5	42799880	42811892	5p11	5p12	601484	SELENOP, SEPP1	Selenoprotein P	SELENOP	6414	ENSG00000250722			Selenop (MGI:894288)
chr5	43039371	43043247	5p12	5p12	611296	ANXA2R, C5orf39, AX2R, AXIIR	Annexin A2 receptor	ANXA2R	389289	ENSG00000177721			Anxa2r1,Anxa2r2 (MGI:5434543,MGI:5595238)
chr5	43120914	43176324	5p12-p11	5p12	604073	ZNF131	Zinc finger protein -31	ZNF131	7690	ENSG00000172262			Zfp131 (MGI:1919715)
chr5	43287470	43313412	5p14-p13	5p12	142940	HMGCS1	3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1	HMGCS1	3157	ENSG00000112972	like HMGCR, regulated transcriptionally by steroid		Hmgcs1 (MGI:107592)
chr5	43356975	43412391	5p12	5p12	605240	CCL28	Chemokine, C-C motif, ligand 28	CCL28	56477	ENSG00000151882			Ccl28 (MGI:1861731)
chr5	43526267	43557411	5p12	5p12	605184	PAIP1	Polyadenylate-binding protein-interacting protein 1	PAIP1	10605	ENSG00000172239			Paip1 (MGI:2384993)
chr5	43602675	43707396	5p12	5p12	607878	NNT, GCCD4	Nicotinamide nucleotide transhydrogenase	NNT	23530	ENSG00000112992		Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3), Autosomal recessive	Nnt (MGI:109279)
chr5	44300247	44389420	5p13-p12	5p12	602115	FGF10, LADD3	Fibroblast growth factor-10	FGF10	2255	ENSG00000070193		LADD syndrome 3, 620193 (3), Autosomal dominant; Aplasia of lacrimal and salivary glands, 180920 (3), Autosomal dominant	Fgf10 (MGI:1099809)
chr5	44808947	44815514	5p12-q11	5p12	611991	MRPS30	Mitochondrial ribosomal protein S30	MRPS30	10884	ENSG00000112996			Mrps30 (MGI:1926237)
chr5	45254948	45696380	5p12	5p12	602780	HCN1, BCNG1, DEE24, GEFSP10	Hyperpolarization-activated cyclic nucleotide-gated potassium channel 1	HCN1	348980	ENSG00000164588		Developmental and epileptic encephalopathy 24, 615871 (3), Autosomal dominant; Generalized epilepsy with febrile seizures plus, type 10, 618482 (3), Autosomal dominant	Hcn1 (MGI:1096392)
chr5	48800001	181538259	5q		609657	BSZQTL2	Bone size quantitative trait locus 2		100188794			{Bone size QTL}, 609657 (2)	
chr5	50396192	50443345	5q11.1	5q11.1	615669	EMB, GP70	Embigin	EMB	133418	ENSG00000170571			Emb (MGI:95321)
chr5	51383448	51394730	5q	5q11.1	600366	ISL1	ISL1 transcription factor, LIM/homeodomain (islet-1)	ISL1	3670	ENSG00000016082	between D5S395 and D5S407; proximal 5q		Isl1 (MGI:101791)
chr5	51400001	59600000	5q11.2		614200	BDPLT9	Bleeding disorder, platelet-type, 9		116814567			Bleeding disorder, platelet-type, 9, 614200 (2), Autosomal dominant	
chr5	52787916	52959209	5q11.2	5q11.2	192968	ITGA1, VLA1	Integrin, alpha-1	ITGA1	3672	ENSG00000213949			Itga1 (MGI:96599)
chr5	52787916	52804044	5q11.2	5q11.2	605757	PELO	Pelota mRNA surveillance and ribosome rescue factor	PELO	53918	ENSG00000152684			Pelo (MGI:2145154)
chr5	52989352	53094779	5q23-q31	5q11.2	192974	ITGA2, CD49B, BR	Integrin, alpha-2 (CD49B; alpha-2 subunit of VLA-2 receptor; platelet antigen Br)	ITGA2	3673	ENSG00000164171			Itga2 (MGI:96600)
chr5	53095679	53109757	5q11	5q11.2	603708	MOCS2, MPTS, MOCODB	Molybdenum cofactor synthesis-2	MOCS2	4338	ENSG00000164172		Molybdenum cofactor deficiency B, 252160 (3), Autosomal recessive	Mocs2 (MGI:1336894)
chr5	53480629	53487134	5q11.2	5q11.2	136470	FST, FS	Follistatin	FST	10468	ENSG00000134363			Fst (MGI:95586)
chr5	53560639	53683338	5q11.1	5q11.2	602694	NDUFS4, AQDQ, MC1DN1	NADH-ubiquinone oxidoreductase subunit S4	NDUFS4	4724	ENSG00000164258		Mitochondrial complex I deficiency, nuclear type 1, 252010 (3), Autosomal recessive	Ndufs4 (MGI:1343135)
chr5	54455699	54456377	5q11.2	5q11.2	604624	HSPB3, HSPL27, HMND4	Heat-shock 27kD protein 3	HSPB3	8988	ENSG00000169271	mutation identified in 1 HMND4 family	?Neuronopathy, distal hereditary motor, autosomal dominant 4, 613376 (3), Autosomal dominant	Hspb3 (MGI:1928479)
chr5	54517759	54648005	5q11.2	5q11.2	621000	SNX18	Sorting nexin 18	SNX18	112574	ENSG00000178996			Snx18 (MGI:2137642)
chr5	54977867	54985593	5q11.2	5q11.2	601521	ESM1	Endothelial cell-specific molecule 1	ESM1	11082	ENSG00000164283			Esm1 (MGI:1918940)
chr5	55024256	55034570	5q11.2	5q11.2	600784	GZMK, TRYP2	Granzyme K	GZMK	3003	ENSG00000113088			Gzmk (MGI:1298232)
chr5	55102646	55110252	5q11-q12	5q11.2	140050	GZMA, CTLA3, HFSP	Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)	GZMA	3001	ENSG00000145649			Gzma (MGI:109266)
chr5	55112971	55173177	5q11.2	5q11.2	620335	CDC20B	Cell division cycle 20B	CDC20B	166979	ENSG00000164287			Cdc20b (MGI:3644472)
chr5	55160171	55167297	5q11.2	5q11.2	617172	GPX8	Glutathione peroxidase 8	GPX8	493869	ENSG00000164294			Gpx8 (MGI:1916840)
chr5	55170532	55170622	5q11.2	5q11.2	613131	MIR449A, MIRN449A	Micro RNA 449A	MIR449A	554213	ENSG00000198983			Mir449a (MGI:3619407)
chr5	55170646	55170742	5q11.2	5q11.2	613132	MIR449B, MIRN449B	Micro RNA 449B	MIR449B	693123	ENSG00000207728			Mir449b (MGI:3718803)
chr5	55219564	55227315	5q11.2	5q11.2	614086	MCIDAS, IDAS, CILD42	IDAS	MCIDAS	345643	ENSG00000234602		Ciliary dyskinesia, primary, 42, 618695 (3), Autosomal recessive	Mcidas (MGI:3648807)
chr5	55231152	55233608	5q11.2	5q11.2	607752	CCNO, UNG2, CILD29	Cyclin O	CCNO	10309	ENSG00000152669		Ciliary dyskinesia, primary, 29, 615872 (3), Autosomal recessive	Ccno (MGI:2145534)
chr5	55256055	55307694	5q11.2	5q11.2	612720	DHX29	DExH-box helicase 29	DHX29	54505	ENSG00000067248			Dhx29 (MGI:2145374)
chr5	55307989	55425579	5q11.2	5q11.2	618122	MTREX, MTR4, SKIV2L2	MTR4 exosome RNA helicase	MTREX	23517	ENSG00000039123			Mtrex (MGI:1919448)
chr5	55424854	55534964	5q11.2	5q11.2	607124	PLPP1, PPAP2A	Phopshplipid phosphatase 1	PLPP1	8611	ENSG00000067113			Plpp1 (MGI:108412)
chr5	55625845	55712335	5q11.2	5q11.2	616203	SLC38A9, URLC11	Solute carrier family 38, member 9	SLC38A9	153129	ENSG00000177058			Slc38a9 (MGI:1918839)
chr5	55738061	55817157	5q11.2-q12	5q11.2	605281	DDX4, VASA	DEAD-box helicase 4	DDX4	54514	ENSG00000152670			Ddx4 (MGI:102670)
chr5	55839789	55922850	5q11.2	5q11.2	609510	IL31RA, GLMR, GPL, PLCA2	Interleukin 31 receptor A	IL31RA	133396	ENSG00000164509	mutation identified in 1 PLCA2 patient	?Amyloidosis, primary localized cutaneous, 2, 613955 (3), Autosomal dominant	Il31ra (MGI:2180511)
chr5	55935095	55994963	5q11	5q11.2	600694	IL6ST, HIES4A, HIES4B, STWS2, IMD94	Interleukin 6 cytokine family signal transducer	IL6ST	3572	ENSG00000134352	mutation identified in one IMD94 patient	Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, 619752 (3), Autosomal dominant; Stuve-Wiedemann syndrome 2, 619751 (3), Autosomal recessive; Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, 618523 (3), Autosomal recessive; ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, 619750 (3), Autosomal dominant	Il6st (MGI:96560)
chr5	56099680	56233330	5q11	5q11.2	615189	ANKRD55	Ankyrin repeat domain-containing protein 55	ANKRD55	79722	ENSG00000164512			Ankrd55 (MGI:1924568)
chr5	56815549	56896152	5q11.2	5q11.2	600982	MAP3K1, MEKK1, MEKK, SRXY6	Mitogen-activated protein kinase kinase kinase 1	MAP3K1	4214	ENSG00000095015		46XY sex reversal 6, 613762 (3), Autosomal dominant	Map3k1 (MGI:1346872)
chr5	56919603	56952209	5q11.2	5q11.2	620100	MIER3	MIER family, member 3	MIER3	166968	ENSG00000155545			Mier3 (MGI:2442317)
chr5	57174059	57264679	5q11.2	5q11.2	608412	GPBP1, GPBP	GC-rich promoter-binding protein 1	GPBP1	65056	ENSG00000062194			Gpbp1 (MGI:1920524)
chr5	57480018	57482811	5q11.2	5q11.2	614835	ACTBL2	Actin, beta-like, 2	ACTBL2	345651	ENSG00000169067			Actbl2 (MGI:2444552)
chr5	58453982	58460086	5q12-q13	5q11.2	607023	PLK2, SNK	Polo-like kinase 2	PLK2	10769	ENSG00000145632			Plk2 (MGI:1099790)
chr5	58491435	58497090	5q11.2	5q11.2	620440	GAPT	GRB2-binding adaptor protein, transmembrane	GAPT	202309	ENSG00000175857			Gapt (MGI:3608341)
chr5	58582152	58859394	5q13	5q11.2	612829	RAB3C	Ras-associated protein RAB3C	RAB3C	115827	ENSG00000152932			Rab3c (MGI:1914545)
chr5	58969038	60522128	5q12	5q11.2-q12.1	600129	PDE4D, DPDE3, ACRDYS2	Phosphodiesterase-4D, cAMP-specific (dunce, Drosophila, homolog of, phosphodiesterase-E3)	PDE4D	5144	ENSG00000113448		Acrodysostosis 2, with or without hormone resistance, 614613 (3), Autosomal dominant	Pde4d (MGI:99555)
chr5	59600001	67400000	5q12		615668	DEL5q12, C5DELq12	Chromosome 5q12 deletion syndrome					Chromosome 5q12 deletion syndrome, 615668 (4), Autosomal dominant	
chr5	59600001	93000000	5q12-q14		611364	EJM4	Myoclonic epilepsy, juvenile, 4		100126594		max lod at D5S459	Myoclonic epilepsy, juvenile, 4, 611364 (2), Autosomal dominant	
chr5	59600001	67400000	5q12		606799	STRK1	Stroke, susceptibility to, 1				association with PDE4D	{Stroke, susceptibility to, 1}, 606799 (2)	
chr5	60487713	60547657	5q12	5q12.1	604991	PART1	Prostate androgen-regulated transcript 1	PART1	25859	ENSG00000152931			
chr5	60596912	60700166	5q12.1	5q12.1	616073	DEPDC1B	DEP domain-containing protein 1B	DEPDC1B	55789	ENSG00000035499			Depdc1b (MGI:2145425)
chr5	60751791	60844269	5q12.1	5q12.1	614451	ELOVL7	Elongation of very long chain fatty acids-like 6	ELOVL7	79993	ENSG00000164181			Elovl7 (MGI:1921809)
chr5	60866454	60945070	5q12	5q12.1	609412	ERCC8, CKN1, CSA, UVSS2	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	ERCC8	1161	ENSG00000049167		UV-sensitive syndrome 2, 614621 (3), Autosomal recessive; Cockayne syndrome, type A, 216400 (3), Autosomal recessive	Ercc8 (MGI:1919241)
chr5	60945205	61153026	5q12.1	5q12.1	609653	NDUFAF2, NDUFA12L, MMTN, B17.2L, MC1DN10	NADH-ubiquinone oxidoreductase complex assembly factor 2	NDUFAF2	91942	ENSG00000164182	pseudogene on chr.2	Mitochondrial complex I deficiency, nuclear type 10, 618233 (3), Autosomal recessive	Ndufaf2 (MGI:1922847)
chr5	61332258	61546172	5q12.1	5q12.1	615951	ZSWIM6, KIAA1577, AFND, NEDMAGA	Zinc finger SWIM domain-containing protein 6	ZSWIM6	57688	ENSG00000130449		Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3), Autosomal dominant; Acromelic frontonasal dysostosis, 603671 (3), Autosomal dominant	Zswim6 (MGI:1914513)
chr5	62306206	62391025	5q12.1	5q12.1	602591	KIF2A, CDCBM3	Kinesin, heavy chain, 2	KIF2A	3796	ENSG00000068796		Cortical dysplasia, complex, with other brain malformations 3, 615411 (3), Autosomal dominant	Kif2a (MGI:108390)
chr5	62387254	62403905	5q12.1	5q12.1	612499	DIMT1L, DIM1, HUSSY5	DIMT1 rRNA methyltransferase and ribosome maturation factor	DIMT1	27292	ENSG00000086189	previously assigned to 8p12		Dimt1 (MGI:1913504)
chr5	62412763	62628582	5q12.1	5q12.1	610889	IPO11, RANBP11, SLRN	Importin 11	IPO11	51194	ENSG00000086200			Ipo11 (MGI:2442377)
chr5	63957874	63962445	5q11.2-q13	5q12.3	109760	HTR1A, ADRB2RL1, PFMCD	5-hydroxytryptamine (serotonin) receptor-1A	HTR1A	3350	ENSG00000178394	mutation identified in 1 PFMCD patient	?Periodic fever, menstrual cycle dependent, 614674 (3), Autosomal dominant	Htr1a (MGI:96273)
chr5	64165351	64372869	5q12.3	5q12.3	616015	RNF180, RINES	RING finger protein 180	RNF180	285671	ENSG00000164197			Rnf180 (MGI:1919066)
chr5	64506015	64612319	5q12.3	5q12.3	610890	RGS7BP, R7BP	Regulator of G protein signaling 7-binding protein	RGS7BP	401190	ENSG00000186479			Rgs7bp (MGI:106334)
chr5	64690503	64718190	5q12.3	5q12.3	620219	SHISAL2B, FAM159B	SHISH-like 2B	SHISAL2B	100132916	ENSG00000145642			Shisal2b (MGI:1925053)
chr5	64768918	65018763	5q12.3	5q12.3	617170	CWC27, SDCCAG10, RPSKA	CWC27 spliceosome-associated cyclophilin	CWC27	10283	ENSG00000153015		Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive	Cwc27 (MGI:1914535)
chr5	65148738	65481920	5q12	5q12.3	605008	ADAMTS6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	ADAMTS6	11174	ENSG00000049192			Adamts6 (MGI:1347348)
chr5	65495624	65563168	5p15.2-q12.3	5q12.3	611502	CEMPK, SOLT	Centromeric protein K	CENPK	64105	ENSG00000123219			Cenpk (MGI:1926210)
chr5	65563296	65587549	5q12.3	5q12.3	618274	PPWD1	Peptidylprolyl isomerase domain- and WD40 repeat-containing protein 1	PPWD1	23398	ENSG00000113593			Ppwd1 (MGI:2443069)
chr5	65589690	65624333	5q12.3	5q12.3	601747	TRIM23, ARD1	Tripartite motif-containing protein 23	TRIM23	373	ENSG00000113595			Trim23 (MGI:1933161)
chr5	65625027	65630928	5q12.3	5q12.3	618030	SHLD3, RINN1	Shield complex, subunit 3	SHLD3	112441434	ENSG00000253251			Shld3 (MGI:6194609)
chr5	65665928	65723013	5q12.3	5q12.3	620526	SGTB	Small glutamine-rich tetratricopaptide repeat cochaperone, beta	SGTB	54557	ENSG00000197860			Sgtb (MGI:2444615)
chr5	65722205	65829283	5q12.3	5q12.3	611530	NLN, KIAA1226, AGTBP	Neurolysin	NLN	57486	ENSG00000123213			Nln (MGI:1923055)
chr5	65926575	66082546	5q12	5q12.3	606944	ERBB2IP, ERBIN	ERBB2 interacting protein	ERBIN	55914	ENSG00000112851			Erbin (MGI:1890169)
chr5	66144300	66183615	5q11.2-q12.1	5q12.3	609268	SREK1, SFRS12, SRRp508	Splicing regulatory glutamine/lysine-rich protein 1	SREK1	140890	ENSG00000153914			Srek1 (MGI:2145245)
chr5	66596393	67169593	5q13	5q12.3	618002	MAST4	Microtubule-associated serine-threonine kinase 4	MAST4	375449	ENSG00000069020			Mast4 (MGI:1918885)
chr5	67179613	67196799	5q12	5q12.3	602226	CD180, LY64, RP105	CD180 antigen	CD180	4064	ENSG00000134061			Cd180 (MGI:1194924)
chr5	67400001	93000000	5q13-q14		607087	AAT2, FAA2	Aortic aneurysm, familial thoracic 2		252843			Aortic aneurysm, familial thoracic 2, 607087 (2)	
chr5	67400001	115900000	5q13-q22		605544	GINGF2, GGF2, HGF2	Fibromatosis, gingival, 2		64644		formerly GINGF2 used for a locus on 2p16-p13	Fibromatosis, gingival, 2, 605544 (2)	
chr5	67400001	77600000	5q13		612306	TSHQTL1	Thyroid-stimulating hormone level QTL 1		100190789		associated with rs4704397	[Thyroid-stimulating hormone level QTL 1], 612306 (2)	
chr5	68215756	68301821	5q13	5q13.1	171833	PIK3R1, GRB1, AGM7, SHORT, IMD36	Phosphatidylinositol 3-kinase, regulatory, 1	PIK3R1	5295	ENSG00000145675	mutation identified in 1 AGM7 family	Immunodeficiency 36, 616005 (3), Autosomal dominant; ?Agammaglobulinemia 7, autosomal recessive, 615214 (3), Autosomal recessive; SHORT syndrome, 269880 (3), Autosomal dominant	Pik3r1 (MGI:97583)
chr5	69094014	69131069	5q11.2	5q13.1-q13.2	607819	SLC30A5, ZNT5, ZTL1	Solute carrier family 30 (zinc transporter), member 5	SLC30A5	64924	ENSG00000145740			Slc30a5 (MGI:1916298)
chr5	69167150	69178245	5q12	5q13.2	123836	CCNB1	Cyclin B1	CCNB1	891	ENSG00000134057			Ccnb1,Ccnb1-ps (MGI:3648694,MGI:88302)
chr5	69189583	69210357	5q13.2	5q13.2	605607	CENPH	Centromeric protein H	CENPH	64946	ENSG00000153044			Cenph (MGI:1349448)
chr5	69217760	69230158	5q12.1	5q13.2	611996	MRPS36	Mitochondrial ribosomal protein S36	KGD4	92259	ENSG00000134056	6 pseudogenes		Mrps36 (MGI:1913378)
chr5	69234795	69277430	5q13.2	5q13.2	601955	CDK7, STK1, CAK1	Cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)	CDK7	1022	ENSG00000134058	previously mapped to 2p15-cen		Cdk7 (MGI:102956)
chr5	69273039	69332801	5q13.2	5q13.2	613781	CCDC125, KENAE	Coiled-coil domain-containing protein 125	CCDC125	202243	ENSG00000183323			Ccdc125 (MGI:1923291)
chr5	69350984	69369824	5q13.2	5q13.2	619357	AK6, CINAP	Adenylate kinase 6	AK6	102157402	ENSG00000085231			Ak6 (MGI:5510732)
chr5	69364743	69369824	5q11.2-q13.1	5q13.2	600822	TAF9, TAF2G, TAFII32	TATA box-binding protein-associated factor 9	TAF9	6880	ENSG00000273841			Taf9 (MGI:1888697)
chr5	69369293	69414801	5q13	5q13.2	603139	RAD17	RAD17 checkpoint clamp loader component	RAD17	5884	ENSG00000152942			Rad17 (MGI:1333807)
chr5	69415116	69444330	5q13.1	5q13.2	610572	MARVELD2, MARVD2, TRIC, DFNB49	Marvel domain-containing protein 2 (tricellulin)	MARVELD2	153562	ENSG00000152939		Deafness, autosomal recessive 49, 610153 (3), Autosomal recessive	Marveld2 (MGI:2446166)
chr5	69492547	69558104	5q13.1	5q13.2	602876	OCLN, BLCPMG, PTORCH1	Occludin	OCLN	100506658	ENSG00000197822		Pseudo-TORCH syndrome 1, 251290 (3), Autosomal recessive	Ocln (MGI:106183)
chr5	70049523	70090528	5q12.2-q13.3	5q13.2	601627	SMN2	Survival of motor neuron 2, centromeric	SMN2	6607	ENSG00000205571		{Spinal muscular atrophy, type III, modifier of}, 253400 (3), Autosomal recessive	Smn1 (MGI:109257)
chr5	70900669	70918530	5q12.2-q13.3	5q13.2	603011	SERF1A, H4F5, SMAM1	Small EDRK-rich factor 1A	SERF1A	8293	ENSG00000172058			Serf1 (MGI:1337114)
chr5	70924941	70966375	5q12.2-q13.3	5q13.2	600354	SMN1, SMA1, SMA2, SMA3, SMA4	Survival of motor neuron 1, telomeric	SMN1	6606	ENSG00000172062		Spinal muscular atrophy-2, 253550 (3), Autosomal recessive; Spinal muscular atrophy-4, 271150 (3), Autosomal recessive; Spinal muscular atrophy-3, 253400 (3), Autosomal recessive; Spinal muscular atrophy-1, 253300 (3), Autosomal recessive	Smn1 (MGI:109257)
chr5	70968166	71025339	5q12.2-q13.3	5q13.2	600355	BIRC1, NAIP	Baculoviral IAP repeat-containing 1 (neuronal apoptosis inhibitory protein)	NAIP	4671	ENSG00000249437	?involved in SMA		Naip1,Naip2,Naip5,Naip6,Naip7 (MGI:1298220,MGI:1298222,MGI:1298223,MGI:1298226,MGI:1858256)
chr5	71035347	71067676	5q12.2-q13.3	5q13.2	601748	GTF2H2	General transcription factor IIH, polypeptide 2 (44kD subunit)	GTF2H2	2966	ENSG00000145736	2 copies		Gtf2h2 (MGI:1345669)
chr5	71375785	71385993	5q12-q13	5q13.2	176794	PMCHL2	Pro-melanin-concentrating hormone-like 2	PMCHL2	5370	ENSG00000290836			
chr5	71455651	71578288	5q13	5q13.2	607012	BDP1, TFNR, DFNB112	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	BDP1	55814	ENSG00000145734	mutation identified in 1 DFNB112 family	?Deafness, autosomal recessive 112, 618257 (3), Autosomal recessive	Bdp1 (MGI:1347077)
chr5	71587340	71658706	5q12-q13	5q13.2	609014	MCCC2, MCCB	3-Methylcrotonyl-CoA carboxylase 2	MCCC2	64087	ENSG00000131844		3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3), Autosomal recessive	Mccc2 (MGI:1925288)
chr5	71719275	71721045	5q13.2	5q13.2	602606	CARTPT, CART	Cocaine- and amphetamine-regulated transcript prepropeptide	CARTPT	9607	ENSG00000164326	mutation identified in 1 family	{?Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant	Cartpt (MGI:1351330)
chr5	72107475	72209565	5q13	5q13.2	157129	MAP1B, PVNH9, DFNA83	Microtubule-associated protein-1B	MAP1B	4131	ENSG00000131711	mutation identified in 1 DFNA83 family	?Deafness, autosomal dominant 83, 619808 (3), Autosomal dominant; Periventricular nodular heterotopia 9, 618918 (3), Autosomal dominant	Map1b (MGI:1306778)
chr5	72219403	72320240	5q13.2	5q13.2	611989	MRPS27, KIAA0264	Mitochondrial ribosomal protein S27	MRPS27	23107	ENSG00000113048			Mrps27 (MGI:1919064)
chr5	72320373	72368395	5q13.2	5q13.2	615484	PTCD2	Pentatricopeptide repeat domain-containing protein 2	PTCD2	79810	ENSG00000049883			Ptcd2 (MGI:1916177)
chr5	72439903	72507410	5q13.2	5q13.2	610159	ZNF366, DCSCRIPT	Zinc finger protein 366	ZNF366	167465	ENSG00000178175			Zfp366 (MGI:2178429)
chr5	72816661	72914388	5q13.2	5q13.2	602901	TNPO1, KPNB2, MIP1	Transportin 1	TNPO1	3842	ENSG00000083312			Tnpo1 (MGI:2681523)
chr5	72956041	73090522	5q13.2	5q13.2	613438	FCHO2	FCH domain-only protein 2	FCHO2	115548	ENSG00000157107			Fcho2 (MGI:3505790)
chr5	73173193	73175143	5q13.2	5q13.2	614909	TMEM174	Transmembrane protein 174	TMEM174	134288	ENSG00000164325			Tmem174 (MGI:1915594)
chr5	73446266	73448777	5q12-q13	5q13.2	601091	FOXD1, FKHL8	Forkhead box D1	FOXD1	2297	ENSG00000251493			Foxd1 (MGI:1347463)
chr5	73498442	73505667	5q13.2	5q13.2	602542	BTF3, NACB	Basic transcription factor 3	BTF3	689	ENSG00000145741			Btf3 (MGI:1202875)
chr5	73552190	73565639	5q12-q13	5q13.2	605787	ANKRA2, ANKRA	Ankyrin repeat-containing protein, family A, member 2	ANKRA2	57763	ENSG00000164331			Ankra2 (MGI:1915808)
chr5	73565741	73583380	5q13.2	5q13.2	616194	UTP15	UTP15 small subunit processome component                            of	UTP15	84135	ENSG00000164338			Utp15 (MGI:2145443)
chr5	73626196	73941990	5q13.2	5q13.2	612790	RGNEF, p190RHOGEF	Rgnef, mouse, homolog of	ARHGEF28	64283	ENSG00000214944			Arhgef28 (MGI:1346016)
chr5	74000001	77600000	5q13.3		618214	LINC01157	Long intergenic noncoding RNA 1157	LINC01157	105379037				Lncenc1 (MGI:3780541)
chr5	74627409	74640728	5q13	5q13.3	605173	ENC1, PIG10	Ectodermal-neural cortex 1	ENC1	8507	ENSG00000171617			Enc1 (MGI:109610)
chr5	74640023	74721288	5q13	5q13.3	606873	HEXB	Hexosaminidase B, beta polypeptide	HEXB	3074	ENSG00000049860		Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3), Autosomal recessive	Hexb (MGI:96074)
chr5	74721206	74767117	5q13	5q13.3	606544	GFM2, EFG2, RRF	Mitochondrial elongation factor G2	GFM2	84340	ENSG00000164347		Combined oxidative phosphorylation deficiency 39, 618397 (3), Autosomal recessive	Gfm2 (MGI:2444783)
chr5	74767249	74780113	5q13.3	5q13.3	612497	TINP1, NSA2, HUSSY29	Transforming growth factor-beta-inducible nuclear protein 1	NSA2	10412	ENSG00000164346			Nsa2 (MGI:1913883)
chr5	74777574	74866966	5q13.3	5q13.3	615769	FAM169A, SLAP75, KIAA0888	Family with sequence similarity 169, member A	FAM169A	26049	ENSG00000198780			Fam169a (MGI:2444268)
chr5	75016969	75054060	5q12	5q13.3	616782	GCNT4	Glucosaminyl (N-acetyl) transferase 4, core 2	GCNT4	51301	ENSG00000176928			Gcnt4 (MGI:2684919)
chr5	75068297	75236878	5q13.3	5q13.3	618423	ANKRD31	Ankyrin repeat domain-containing protein 31	ANKRD31	256006	ENSG00000145700			Ankrd31 (MGI:5006716)
chr5	75336529	75362116	5q13.3-q14	5q13.3	142910	HMGCR, LDLCQ3, LGMDR28	3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG CoA reductase	HMGCR	3156	ENSG00000113161	mutation identified in 1 MYPLG family	Muscular dystrophy, limb-girdle, autosomal recessive 28, 620375 (3), Autosomal recessive; [Statins, response to], 620410 (3); [Low density lipoprotein cholesterol level QTL 3], 620410 (3)	Hmgcr (MGI:96159)
chr5	75368486	75511981	5q13.3	5q13.3	604677	CERT1, COL4A3BP, GPBP, CERT, NEDHSF	Ceramide transporter 1	CERT1	10087	ENSG00000113163		Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies, 616351 (3), Autosomal dominant	Cert1 (MGI:1915268)
chr5	75510774	75609991	5q13.1	5q13.3	605650	POLK, POLQ, DINB1	Polymerase, DNA, kappa	POLK	51426	ENSG00000122008			Polk (MGI:1349767)
chr5	75611453	75671846	5q13.3	5q13.3	619920	ANKDD1B	Ankyrin repeat- and death domain-containing protein 1B	ANKDD1B	728780	ENSG00000189045			Ankdd1b (MGI:2444730)
chr5	75674124	75717437	5q13.3	5q13.3	617880	POC5, C5orf37	POC5 centriolar protein	POC5	134359	ENSG00000152359			Poc5 (MGI:1914713)
chr5	75847464	76353939	5q13.3	5q13.3	610291	SV2C	Synaptic vesicle glycoprotein 2C	SV2C	22987	ENSG00000122012			Sv2c (MGI:1922459)
chr5	76403285	76708132	5q11-q13	5q13.3	605401	IQGAP2	IQ motif-containing GTPase-activating protein-2	IQGAP2	10788	ENSG00000145703			Iqgap2 (MGI:2449975)
chr5	76615482	76623403	5q13	5q13.3	601919	F2RL2, PAR3	Coagulation factor II receptor-like 2 (protease-activated receptor 3)	F2RL2	2151	ENSG00000164220	order: PAR2-PAR1-PAR3		F2rl2 (MGI:1298208)
chr5	76716126	76735770	5q13	5q13.3	187930	F2R, CF2R, PAR1	Coagulation factor II (thrombin) receptor	F2R	2149	ENSG00000181104	within 900kb of GPR11		F2r (MGI:101802)
chr5	76819030	76835315	5q13	5q13.3	600933	F2RL1, GPR11, PAR2	Coagulation factor II, thrombin, receptor-like 1 (G protein-coupled receptor-11)	F2RL1	2150	ENSG00000164251	within 900kb of F2R		F2rl1 (MGI:101910)
chr5	76850014	76952953	5q13.3	5q13.3	610103	S100Z	S100 calcium-binding protein, zeta	S100Z	170591	ENSG00000171643			S100z (MGI:2685471)
chr5	76953045	76981159	5q11.2-q13.3	5q13.3	122559	CRHBP	Corticotropin releasing hormone-binding protein	CRHBP	1393	ENSG00000145708			Crhbp (MGI:88497)
chr5	77030404	77065234	5q13.3	5q13.3	608464	AGGF1, VG5Q, HUS84971, FLJ10283	Angiogenic factor with G patch and FHA domains 1	AGGF1	55109	ENSG00000164252			Aggf1 (MGI:1913799)
chr5	77072072	77087285	5q13.3	5q13.3	615250	ZBED3	Zinc finger BED domain-containing protein 3	ZBED3	84327	ENSG00000132846			Zbed3 (MGI:1919364)
chr5	77086715	77428256	5q13	5q13.3	603390	PDE8B, PPNAD3, ADSD	Phosphodiesterase 8B	PDE8B	8622	ENSG00000113231		Pigmented nodular adrenocortical disease, primary, 3, 614190 (3); Striatal degeneration, autosomal dominant, 609161 (3), Autosomal dominant	Pde8b (MGI:2443999)
chr5	77430933	77620577	5q13.3	5q13.3-q14.1	617502	WDR41	WD repeat-containing protein 41	WDR41	55255	ENSG00000164253			Wdr41 (MGI:2445123)
chr5	77600001	93000000	5q14		187260	HBT	Telangiectasia, hereditary benign		338411		max lod at D5S641	Telangiectasia, hereditary benign, 187260 (2), Autosomal dominant	
chr5	77600001	110200000	5q14.1-q21.3		614622	KTCN5	Keratoconus 5		100885801		between D5S2499 and D5S495	Keratoconus 5, 614622 (2), Autosomal dominant	
chr5	77628712	77638713	5q13.3	5q14.1	604529	OTP	Orthopedia homeobox	OTP	23440	ENSG00000171540			Otp (MGI:99835)
chr5	77691166	77776339	5q14.1	5q14.1	610058	TBCA	Tubulin-specific chaperone A	TBCA	6902	ENSG00000171530			Tbca (MGI:107549)
chr5	78000522	78294698	5q14.1	5q14.1	603401	AP3B1, ADTB3A, HPS2	Adaptor-related protein complex 3, beta 1 subunit (adaptin, beta-3a)	AP3B1	8546	ENSG00000132842		Hermansky-Pudlak syndrome 2, 608233 (3), Autosomal recessive	Ap3b1 (MGI:1333879)
chr5	78360617	78480739	5q13.3-q14.1	5q14.1	606911	SCAMP1, SCAMP37	Secretory carrier membrane protein 1	SCAMP1	9522	ENSG00000085365			Scamp1 (MGI:1349480)
chr5	78485230	78648772	5q14.1	5q14.1	609718	LHFPL2, KIAA0206	LHFP tetraspan subfamily, member 2	LHFPL2	10184	ENSG00000145685			Lhfpl2 (MGI:2145236)
chr5	78777209	78985958	5q11-q13	5q14.1	611542	ARSB, MPS6	Arylsulfatase B	ARSB	411	ENSG00000113273		Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3), Autosomal recessive	Arsb (MGI:88075)
chr5	78997564	79069674	5q12.2-q12.3	5q14.1	605849	DMGDH, DMGDHD	Dimethylglycine dehydrogenase	DMGDH	29958	ENSG00000132837		Dimethylglycine dehydrogenase deficiency, 605850 (3), Autosomal recessive	Dmgdh (MGI:1921379)
chr5	79069767	79090069	5q13.1-q13.2	5q14.1	605932	BHMT2	Betaine-homocysteine methyltransferase 2	BHMT2	23743	ENSG00000132840			Bhmt2 (MGI:1891379)
chr5	79111809	79132288	5q13.1-q13.2	5q14.1	602888	BHMT	Betaine-homocysteine methyltransferase	BHMT	635	ENSG00000145692			Bhmt,Bhmt1b (MGI:1339972,MGI:3643681)
chr5	79236131	79327211	5q13.2	5q14.1	604279	JMY	Junction-mediating and regulatory protein	JMY	133746	ENSG00000152409			Jmy (MGI:1913096)
chr5	79372636	79514134	5q14.2	5q14.1	604798	HOMER1, HOMER1B, HOMER1C, HOMER1A	Homer scaffold protein 1	HOMER1	9456	ENSG00000152413			Homer1 (MGI:1347345)
chr5	79612441	79688246	5q14.1	5q14.1	614121	TENT2, APD4, GLD2	Terminal nucleotidyltransferase 1	TENT2	167153	ENSG00000164329			Tent2 (MGI:2140950)
chr5	79689836	79800222	5q12-q13	5q14.1	612193	CMYA5, MYOSPRYN, TRIM76	Cardiomyopathy-associated protein 5	CMYA5	202333	ENSG00000164309			Cmya5 (MGI:1923719)
chr5	79976716	79991262	5q14.1	5q14.1	619336	MTX3	Metaxin 3	MTX3	345778	ENSG00000177034			Mtx3 (MGI:2686040)
chr5	79991332	80083287	5q14.1	5q14.1	600715	THBS4	Thrombospondin IV	THBS4	7060	ENSG00000113296			Thbs4 (MGI:1101779)
chr5	80111225	80256048	5q14.1	5q14.1	614551	SERINC5, C5orf12, TPO1	Serine incorporator 5	SERINC5	256987	ENSG00000164300			Serinc5 (MGI:2444223)
chr5	80320002	80321842	5q14.1	5q14.1	618068	SPZ1, PPP1R148	Spermatogenic leucine zipper protein 1	SPZ1	84654	ENSG00000164299			Spz1 (MGI:1930801)
chr5	80407610	80483379	5q14.1	5q14.1	608880	ZFYVE16, ENDOFIN, KIAA0305	Zinc finger FYVE domain-containing protein 16	ZFYVE16	9765	ENSG00000039319			Zfyve16 (MGI:2145181)
chr5	80556755	80570280	5q14.1	5q14.1	618581	ANKRD34B, DP58	Ankyrin repeat domain-containing protein 34B	ANKRD34B	340120	ENSG00000189127			Ankrd34b (MGI:2443245)
chr5	80626226	80654983	5q11.2-q13.2	5q14.1	126060	DHFR	Dihydrofolate reductase	DHFR	1719	ENSG00000228716		Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3), Autosomal recessive	Dhfr (MGI:94890)
chr5	80654652	80876815	5q11-q12	5q14.1	600887	MSH3, FAP4	mutS homolog 3	MSH3	4437	ENSG00000113318	5' to DHFR	Familial adenomatous polyposis 4, 617100 (3), Autosomal recessive; Endometrial carcinoma, somatic, 608089 (3)	Msh3 (MGI:109519)
chr5	80960363	81230162	5q13	5q14.1	606614	RASGRF2	Ras protein-specific guanine nucleotide-releasing factor 2	RASGRF2	5924	ENSG00000113319			Rasgrf2 (MGI:109137)
chr5	81233322	81266398	5q13.3	5q14.1	123295	CKMT2	Creatine kinase, mitochondrial-2 (sarcomeric)	CKMT2	1160	ENSG00000131730			Ckmt2 (MGI:1923972)
chr5	81301587	81313297	5q14.1	5q14.1	620382	ZCCHC9	Zinc finger CCHC domain-containing protein 9	ZCCHC9	84240	ENSG00000131732			Zcchc9 (MGI:1916335)
chr5	81308609	81394134	5q14.1	5q14.1	614315	ACOT12, CACH	Acyl-CoA thioesterase 12	ACOT12	134526	ENSG00000172497			Acot12 (MGI:1921406)
chr5	81412804	81751807	5q13.3	5q14.1	607389	SSBP2	Single-stranded DNA-binding protein 2	SSBP2	23635	ENSG00000145687			Ssbp2 (MGI:1914220)
chr5	81972023	82256133	5q14.2	5q14.1-q14.2	610800	ATG10, APG10	Autophagy related 10	ATG10	83734	ENSG00000152348			Atg10 (MGI:1914045)
chr5	82100001	83500000	5q14.2		614317	VUR4	Vesicoureteral reflux 4		100820757		closest marker rs1501656	Vesicoureteral reflux 4, 614317 (2)	
chr5	82273320	82278354	5q14.2	5q14.2	603683	RPS23, BTDD, MCINS	Ribosomal protein S23	RPS23	6228	ENSG00000186468		Brachycephaly, trichomegaly, and developmental delay, 617412 (3), Autosomal dominant	Rps23 (MGI:1913725)
chr5	83052846	83077394	5q14.2	5q14.2	620000	TMEM167A	Transmembrane protein 167A	TMEM167A	153339	ENSG00000174695			Tmem167 (MGI:1913324)
chr5	83064204	83064337	5q14.2	5q14.2	611329	SCARNA18	Small cajal body-specific RNA 18	SCARNA18	677765	ENSG00000238835	in intron 1 of TMEM167		
chr5	83077547	83374473	5q13-q14	5q14.2	194363	XRCC4, SSMED	X-ray repair cross complementing 4	XRCC4	7518	ENSG00000152422	between D5S427 and D5S401	Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive	Xrcc4 (MGI:1333799)
chr5	83471744	83582302	5q12-q14	5q14.2-q14.3	118661	VCAN, CSPG2, WGN, WGN1, ERVR	Versican (chondroitin sulfate proteoglycan-2)	VCAN	1462	ENSG00000038427		Wagner syndrome 1, 143200 (3), Autosomal dominant	Vcan (MGI:102889)
chr5	83500001	98900000	5q14.3-q15		612881	PVNH5	Periventricular nodular heterotopia 5				deletion range 6.3-17Mb, common range 5.8Mb	Periventricular nodular heterotopia 5, 612881 (4)	
chr5	83637805	83720855	5q13-q14.1	5q14.3	115435	HAPLN1, CRTL1	Hyaluronan and proteoglycan link protein 1	HAPLN1	1404	ENSG00000145681			Hapln1 (MGI:1337006)
chr5	83940554	84384880	5q14.3	5q14.3	606018	EDIL3, DEL1	Egf-like repeats- and discoidin I-like domains-containing protein 3	EDIL3	10085	ENSG00000164176			Edil3 (MGI:1329025)
chr5	86617941	86620962	5q14	5q14.3	603774	COX7C	Cytochrome C oxidase, subunit VII C	COX7C	1350	ENSG00000127184	pseudogene on 13q14-q21		Cox7c (MGI:103226)
chr5	87267883	87391916	5q13.3	5q14.3	139150	RASA1, GAP, CMAVM1, PKWS	RAS p21 protein activator 1 (GTPase activating protein)	RASA1	5921	ENSG00000145715		Capillary malformation-arteriovenous malformation 1, 608354 (3), Autosomal dominant; Basal cell carcinoma, somatic, 605462 (3)	Rasa1 (MGI:97860)
chr5	87311471	87412930	5q13.3-q14	5q14.3	601953	CCNH, CAK	Cyclin H	CCNH	902	ENSG00000134480			Ccnh (MGI:1913921)
chr5	88538266	88691041	5q14.3	5q14.3	616611	LINC00461, VISC	Long intergenic noncoding RNA 461	MIR9-2HG	645323	ENSG00000245526			Mir9-2hg (MGI:2443574)
chr5	88666853	88666939	5q14.3	5q14.3	611187	MIR9-2, MIRN9-2	Micro RNA 9-2	MIR9-2	407047	ENSG00000284447			Mir9-2 (MGI:3619442)
chr5	88717117	88904105	5q14	5q14.3	600662	MEF2C, C5DELq14.3, DEL5q14.3, NEDHSIL	MADS box transcription enhancer factor 2, polypeptide C (myocyte enhancer factor 2C)	MEF2C	4208	ENSG00000081189		Chromosome 5q14.3 deletion syndrome, 613443 (4), Autosomal dominant; Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language, 613443 (3), Autosomal dominant	Mef2c (MGI:99458)
chr5	90392257	90409756	5q14.3	5q14.3	602907	CETN3, CDC31	Centrin 3	CETN3	1070	ENSG00000153140			Cetn3 (MGI:1097706)
chr5	90458209	90474771	5q14.3	5q14.3	620907	MBLAC2	Metallo-beta-lactamase domain-containing protein 2	MBLAC2	153364	ENSG00000176055			Mblac2 (MGI:1920102)
chr5	90473929	90514557	5p14.3	5q14.3	617456	POLR3G, RPC32, RPC7	Polymerase III, RNA, subunit G	POLR3G	10622	ENSG00000113356			Polr3g (MGI:1914736)
chr5	90558797	91164437	5q14.3	5q14.3	602851	ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C	Adhesion G protein-coupled receptor V1	ADGRV1	84059	ENSG00000164199	mutation identified in 1 FEB4 family	Usher syndrome, type 2C, 605472 (3), Autosomal recessive, Digenic dominant; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3), Autosomal recessive, Digenic dominant; ?Febrile seizures, familial, 4, 604352 (3), Autosomal dominant	Adgrv1 (MGI:1274784)
chr5	91302986	91314402	5q14.3	5q14.3	618190	LUCAT1, SCAL1	Lung cancer-associated transcript 1, noncoding	LUCAT1	100505994	ENSG00000248323			
chr5	91368631	91383317	5q14.3	5q14.3	612464	ARRDC3, TLIMP, KIAA1376	Arrestin domain-containing 3	ARRDC3	57561	ENSG00000113369			Arrdc3 (MGI:2145242)
chr5	93583222	93594611	5q14	5q15	132890	NR2F1, TFCOUP1, ERBAL3, EAR3, BBSOAS	Nuclear receptor subfamily 2, group F, member 1 (transcription factor COUP 1)	NR2F1	7025	ENSG00000175745		Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3), Autosomal dominant	Nr2f1 (MGI:1352451)
chr5	94150851	94618604	5q15	5q15	617266	KIAA0825, PAPA10	KIAA0825 gene	KIAA0825	285600	ENSG00000185261		Polydactyly, postaxial, type A10, 618498 (3), Autosomal recessive	2210408I21Rik (MGI:1919621)
chr5	94618231	94697621	5q15	5q15	618467	SLF1, BRCTX	SMC5-SMC6 complex localization factor 1	SLF1	84250	ENSG00000133302			Slf1 (MGI:2145448)
chr5	94703690	95285094	5q15	5q15	616296	MCTP1	Multiple C2 domains-containing transmembrane protein 1	MCTP1	79772	ENSG00000175471			Mctp1 (MGI:1926021)
chr5	95463894	95554977	5q15	5q15	614589	SKIC3, TTC37, KIAA0372	SKI3 subunit of superkiller complex	SKIC3	9652	ENSG00000198677		Trichohepatoenteric syndrome 1, 222470 (3), Autosomal recessive	Skic3 (MGI:2679923)
chr5	95555101	95605102	5q15	5q15	610011	ARSK, MPS10	Arylsulfatase K	ARSK	153642	ENSG00000164291		Mucopolysaccharidosis, type X, 619698 (3), Autosomal recessive	Arsk (MGI:1924291)
chr5	95652181	95732102	5q15	5q15	608039	SPATA9	Spermatogenesis associated 9	SPATA9	83890	ENSG00000145757			Spata9 (MGI:1922821)
chr5	95717624	95796361	5q14.3	5q15	607353	RHOBTB3, KIAA0878	Rho-related BTB domain-containing protein 3	RHOBTB3	22836	ENSG00000164292			Rhobtb3 (MGI:1920546)
chr5	95813849	95822726	5q14	5q15	600443	GLRX, GRX	Glutaredoxin (thioltransferase)	GLRX	2745	ENSG00000173221			Glrx (MGI:2135625)
chr5	95885098	95961851	5q15	5q15	601874	ELL2	Elongation factor, RNA polymerase II, 2	ELL2	22936	ENSG00000118985			Ell2 (MGI:2183438)
chr5	95961429	96774683	5q15-q21	5q15	114090	CAST, PLACK	Calpastatin	CAST	831	ENSG00000310517		Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3), Autosomal recessive	Cast (MGI:1098236)
chr5	96390333	96433248	5q15-q21	5q15	162150	PCSK1, NEC1, PC1, PC3, BMIQ12	Proprotein convertase subtilisin/kexin type 1	PCSK1	5122	ENSG00000175426		{Obesity, susceptibility to, BMIQ12}, 612362 (3); Endocrinopathy due to proprotein convertase 1/3 deficiency, 600955 (3), Autosomal recessive	Pcsk1 (MGI:97511)
chr5	96760813	96935854	5q15	5q15	606832	ERAP1, ALAP, ARTS1, PILSAP, KIAA0525	Endoplasmic reticulum aminopeptidase 1	ERAP1	51752	ENSG00000164307			Erap1 (MGI:1933403)
chr5	96875939	96919716	5q15	5q15	609497	ERAP2, LRAP	Endoplasmic reticulum aminopeptidase 2	ERAP2	64167	ENSG00000164308			
chr5	96936080	97037513	5q14.2-q15	5q15	151300	LNPEP	Leucyl-cystinyl aminopeptidase	LNPEP	4012	ENSG00000113441			Lnpep (MGI:2387123)
chr5	97091867	97142611	5q15	5q15	610466	LIX1	Limb and CNS expressed 1	LIX1	167410	ENSG00000145721			Lix1 (MGI:1913893)
chr5	97160867	97183247	5q15	5q15	617754	RIOK2, RIO2	RIO kianse 2	RIOK2	55781	ENSG00000058729			Riok2 (MGI:1914295)
chr5	98768632	98796494	5q21.1	5q15	612687	RGMB, DRAGON	RGM domain family, member B	RGMB	285704	ENSG00000174136			Rgmb (MGI:1916049)
chr5	98853985	98929007	5q15-q21	5q15-q21.1	602118	CHD1, PILBOS	Chromodomain helicase DNA binding protein-1	CHD1	1105	ENSG00000153922		Pilarowski-Bjornsson syndrome, 617682 (3), Autosomal dominant	Chd1 (MGI:88393)
chr5	98900001	110200000	5q21		609570	MGR8	Migraine, susceptibility to, 8		100188790			{Migraine, susceptibility to, 8}, 609570 (2)	
chr5	100806933	100903282	5q21	5q21.1	602547	PST, PST1	Polysialyltransferase	ST8SIA4	7903	ENSG00000113532			St8sia4 (MGI:106018)
chr5	102233986	102296284	5q21.1	5q21.1	609013	SLCO4C1, OATP4C1	Solute carrier organic anion transporter family, member 4C1	SLCO4C1	353189	ENSG00000173930			Slco4c1 (MGI:2442784)
chr5	102371774	102499001	5q21.1	5q21.1	613365	SLCO6A1, GST	Solute carrier organic anion transporter family, member 6A1	SLCO6A1	133482	ENSG00000205359			Slco6b1,Slco6c1,Slco6d1 (MGI:1915104,MGI:1918116,MGI:1921691)
chr5	102754783	103031105	5q14-q21	5q21.1	170270	PAM	Peptidylglycine alpha-amidating monooxygenase	PAM	5066	ENSG00000145730			Pam (MGI:97475)
chr5	103120301	103212799	5q21.1	5q21.1	611648	PPIP5K2, HISPPD1, VIP2, KIAA0433, DFNB100	Histidine acid phosphatase domain-containing protein 1	PPIP5K2	23262	ENSG00000145725		Deafness, autosomal recessive 100, 618422 (3), Autosomal recessive	Ppip5k2 (MGI:2142810)
chr5	103258374	103278660	5q21.1	5q21.1	616608	MACIR, C5orf30	Macrophage immunometabolism regulator	MACIR	90355	ENSG00000181751			Macir (MGI:1277184)
chr5	103548855	103562789	5q21.2	5q21.2	609232	NUDT12	Nudix hydrolase 12	NUDT12	83594	ENSG00000112874			Nudt12 (MGI:1915243)
chr5	107376894	107670937	5q21.3	5q21.3	601535	EFNA5, EPLG7, LERK7	Ephrin A5	EFNA5	1946	ENSG00000184349			Efna5 (MGI:107444)
chr5	107859035	108382098	5q21.3	5q21.3	609083	FBXL17, FBL17, FBX13, FBXO13	F-box and leucine-rich repeat protein 17	FBXL17	64839	ENSG00000145743			Fbxl17 (MGI:1354704)
chr5	108593484	108594003	5q13-q23	5q21.3	180463	RPS20A	Ribosomal protein S20A	RPS20P3	6225		?pseudogene		
chr5	108747897	109196841	5q21-q22	5q21.3	176942	FER, TYK3	fer (fps/fes related) tyrosine kinase	FER	2241	ENSG00000151422			Fer (MGI:105917)
chr5	109334722	109409974	5q21.3	5q21.3	619341	PJA2, NEURODAP1	Praja RING finger ubiquitin ligase 2	PJA2	9867	ENSG00000198961			Pja2 (MGI:2159342)
chr5	109689927	109869625	5q21-q22	5q21.3	154582	MAN2A1, MANA2	Mannosidase, alpha, class 2A, member 1	MAN2A1	4124	ENSG00000112893			Man2a1 (MGI:104669)
chr5	110200001	115900000	5q22		613412	EOE2	Esophagitis, eosinophilic, 2		100499167		association with rs3806932	{Esophagitis, eosinophilic, 2}, 613412 (2), Multifactorial	
chr5	110200001	150400000	5q22.1-q32		610535	GLC1M	Glaucoma 1, open angle, M		777643		between D5S2051 and D5S2090	Glaucoma 1, open angle, M, 610535 (2), Autosomal dominant	
chr5	110200001	115900000	5q22		601079	ZRSR2P1, ZRSR1, U2AF1RS1	ZRSR2 pseudogene 1	ZRSR2P1	7310	ENSG00000212643			
chr5	110387431	110738954	5q22.1	5q22.1	620143	TMEM232	Transmembrane protein 232	TMEM232	642987	ENSG00000186952			Tmem232 (MGI:2685786)
chr5	110738145	110765157	5q22.1	5q22.1	610826	SLC25A46, HMSN6B, PCH1E	Solute carrier family 25, member 46	SLC25A46	91137	ENSG00000164209		Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive; Pontocerebellar hypoplasia, type 1E, 619303 (3), Autosomal recessive	Slc25a46 (MGI:1914703)
chr5	111070062	111078026	5q22.1	5q22.1	607003	TSLP	Thymic stromal lymphopoietin	TSLP	85480	ENSG00000145777			Tslp (MGI:1855696)
chr5	111092348	111130502	5q21.3-q22.1	5q22.1	609669	WDR36, TAWDRP, GLC1G	WD repeat-containing protein 36	WDR36	134430	ENSG00000134987		Glaucoma 1, open angle, G, 609887 (3)	Wdr36 (MGI:1917819)
chr5	111223583	111494886	5q21-q23	5q22.1	114080	CAMK4	Ca(2+)-calmodulin-dependent protein kinase type IV of brain	CAMK4	814	ENSG00000152495			Camk4 (MGI:88258)
chr5	111496033	111512535	5q22	5q22.1	607049	STARD4	Start domain-containing protein 4	STARD4	134429	ENSG00000164211			Stard4 (MGI:2156764)
chr5	111728802	111976932	5q22.1	5q22.1	607332	NREP, C5orf13, P311, PTZ17	Neuronal regeneration-related protein	NREP	9315	ENSG00000134986			Nrep (MGI:99444)
chr5	112141829	112419935	5q22	5q22.1-q22.2	612141	EPB41L4A, EPB41L4, NBL4	Erythrocyte membrane protein band 4.1-like 4A	EPB41L4A	64097	ENSG00000129595			Epb41l4a (MGI:103007)
chr5	112707498	112846239	5q22.2	5q22.2	611731	APC, GS, FPC, BTPS2, DESMD	APC regulator of WNT signaling pathway	APC	324	ENSG00000134982	150kb distal to MCC	Colorectal cancer, somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3), Autosomal dominant; Desmoid disease, hereditary, 135290 (3), Autosomal dominant; Adenoma, periampullary, somatic, 175100 (3); Hepatoblastoma, somatic, 114550 (3); Gastric cancer, somatic, 613659 (3); Gastric adenocarcinoma and proximal polyposis of the stomach, 619182 (3), Autosomal dominant; Gardner syndrome, 175100 (3), Autosomal dominant; Adenomatous polyposis coli, 175100 (3), Autosomal dominant	Apc (MGI:88039)
chr5	112861287	112898371	5q21-q22	5q22.2	182175	SRP19	Signal recognition particle, 19kD	SRP19	6728	ENSG00000153037	within 100kb of APC		Srp19 (MGI:1913634)
chr5	112876385	112922227	5q22-q23	5q22.2	125265	REEP5, D5S346, DP1, C5orf18	Receptor expression-enhancing protein 5	REEP5	7905	ENSG00000129625			Reep5 (MGI:1270152)
chr5	112976798	113022195	5q21-q22	5q22.2	609844	DCP2	Decapping mRNA 2	DCP2	167227	ENSG00000172795			Dcp2 (MGI:1917890)
chr5	113022106	113488453	5q21	5q22.2	159350	MCC	MCC regulator of WNT signaling pathway	MCC	4163	ENSG00000171444		Colorectal cancer, somatic, 114500 (3)	Mcc (MGI:96930)
chr5	113432553	113434989	5q22.2	5q22.2	610709	TSSK1, STK22D	Testis-specific serine/threonine kinase 1	TSSK1B	83942	ENSG00000212122	pseudogene on chr22		Tssk1 (MGI:1347557)
chr5	113513694	113595284	5q22.2	5q22.2	616530	YTHDC2, CAHL	YTH domain-containing protein 2	YTHDC2	64848	ENSG00000047188			Ythdc2 (MGI:2448561)
chr5	114055978	114496496	5q21.2-q22.1	5q22.3	605879	KCNN2, SK2, DYT34, NEDMAB	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 2	KCNN2	3781	ENSG00000080709		?Dystonia 34, myoclonic, 619724 (3), Autosomal dominant; Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, 619725 (3), Autosomal dominant	Kcnn2 (MGI:2153182)
chr5	115124772	115180294	5q22.3	5q22.3	609317	TRIM36, RBCC728, ANPH1	Tripartite motif-containing protein 36	TRIM36	55521	ENSG00000152503	mutation identified in 1 ANPH1 patient	?Anencephaly 1, 206500 (3), Autosomal recessive	Trim36 (MGI:106264)
chr5	115204012	115262877	5q22.3	5q22.3	602031	PGGT1B	Protein geranylgeranyltransferase type I, beta subunit	PGGT1B	5229	ENSG00000164219			Pggt1b (MGI:1917514)
chr5	115520908	115544775	5q22.3	5q22.3	608767	FEM1C, KIAA1785	Fem-1 homolog C	FEM1C	56929	ENSG00000145780			Fem1c (MGI:2444737)
chr5	115578496	115602479	5q23.1	5q22.3	608321	TIRP, TRAM	Toll/interleukin-1 receptor domain-containing protein	TICAM2	353376	ENSG00000243414			Ticam2 (MGI:3040056)
chr5	115613210	115626036	5q22.3	5q22.3	619990	TMED7, TAG	Transmembrane p24 trafficking protein 7	TMED7	51014	ENSG00000134970			Tmed7 (MGI:1913926)
chr5	115804733	115816659	5q22-q23	5q22.3	603943	CDO1	Cysteine dioxygenase, type 1	CDO1	1036	ENSG00000129596			Cdo1 (MGI:105925)
chr5	115828200	115841565	5q22.3	5q22.3	609608	ATG12, APG12, FBR93	Autophagy-related 12	ATG12	9140	ENSG00000145782			Atg12 (MGI:1914776)
chr5	115841935	115914081	5q23.1	5q22.3-q23.1	601507	AP3S1, CLAPS3	Adaptor-related protein complex 3, sigma 1 subunit	AP3S1	1176	ENSG00000177879	previously assigned to chr. 12 by FISH		Ap3s1 (MGI:1337062)
chr5	115900001	181538259	5q23-q35		181510	SCZD1	Schizophrenia susceptibility locus, chromosome 5-related		6377		max lod at D5S820	{Schizophrenia}, 181500 (2), Autosomal dominant	
chr5	115962475	116027606	5q23.1	5q23.1	610046	LVRN	Laeverin	LVRN	206338	ENSG00000172901			Lvrn (MGI:1921824)
chr5	116085025	116293287	5q23.1	5q23.1	616704	COMMD10	COMM domain-containing protein 10	COMMD10	51397	ENSG00000145781			Commd10 (MGI:1916706)
chr5	116443555	116574823	5q23.1	5q23.1	605885	SEMA6A	Semaphorin 6A	SEMA6A	57556	ENSG00000092421			Sema6a (MGI:1203727)
chr5	118836074	118988547	5q23.1	5q23.1	621117	DTWD2	DTW domain-containing protein 2	DTWD2	285605	ENSG00000169570			
chr5	119071027	119249127	5q21-q22	5q23.1	605671	DMXL1	DMX-like 1	DMXL1	1657	ENSG00000172869			Dmxl1 (MGI:2443926)
chr5	119268759	119399688	5q23.1	5q23.1	612111	TNFAIP8, SCCS2	Tumor necrosis factor-alpha-induced protein 8	TNFAIP8	25816	ENSG00000145779			Tnfaip8 (MGI:2147191)
chr5	119452497	119542332	5q23.1	5q23.1	601860	HSD17B4, PRLTS1	Hydroxysteroid (17-beta) dehydrogenase 4	HSD17B4	3295	ENSG00000133835		D-bifunctional protein deficiency, 261515 (3), Autosomal recessive; Perrault syndrome 1, 233400 (3), Autosomal recessive	Hsd17b4 (MGI:105089)
chr5	119629558	119635822	5q23.1	5q23.1	618401	FAM170A, ZNFD	Family with sequence similarity 170, member A	FAM170A	340069	ENSG00000164334			Fam170a (MGI:2684939)
chr5	120464278	120794594	5q23.1	5q23.1	615931	PRR16, LARGEN	Proline-rich protein 16	PRR16	51334	ENSG00000184838			Prr16 (MGI:1918623)
chr5	121851882	121852833	5q21.3	5q23.1	608847	FTMT	Ferritin, mitochondrial	FTMT	94033	ENSG00000181867			Ftmt (MGI:1914884)
chr5	121961975	122078935	5q23.1	5q23.1	610479	SRFBP1, P49	Serum response factor binding protein 1	SRFBP1	153443	ENSG00000151304			Srfbp1 (MGI:1914472)
chr5	122063195	122078259	5q23.3-q31.2	5q23.1	153455	LOX, AAT10	Lysyl oxidase	LOX	4015	ENSG00000113083		Aortic aneurysm, familial thoracic 10, 617168 (3), Autosomal dominant	Lox (MGI:96817)
chr5	122311353	122464219	5q23.1-q23.3	5q23.2	603779	SNCAIP	Synuclein-alpha-interacting protein (synphilin 1)	SNCAIP	9627	ENSG00000064692			Sncaip (MGI:1915097)
chr5	122774996	122834543	5q23	5q23.2	605929	SNX2	Sorting nexin 2	SNX2	6643	ENSG00000205302			Snx2 (MGI:1915054)
chr5	123023250	123036725	5q23.2	5q23.2	123842	PPIC	Peptidyl-prolyl isomerase C	PPIC	5480	ENSG00000168938			Ppic (MGI:97751)
chr5	123089241	123194266	5q23.2	5q23.2	616982	PRDM6, PRISM, PDA3	PR domain-containing protein 6	PRDM6	93166	ENSG00000061455		Patent ductus arteriosus 3, 617039 (3), Autosomal dominant	Prdm6 (MGI:2684938)
chr5	123344892	123423842	5q23.2	5q23.2	613446	CEP120, CCDC100, SRTD13, JBTS31	Centrosomal protein, 120kD	CEP120	153241	ENSG00000168944		Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3), Autosomal recessive; Joubert syndrome 31, 617761 (3), Autosomal recessive	Cep120 (MGI:2147298)
chr5	123512177	123617049	5q23	5q23.2	604253	CSNK1G3	Casein kinase I, gamma-3	CSNK1G3	1456	ENSG00000151292			Csnk1g3 (MGI:1917675)
chr5	124636915	124748824	5q23.2	5q23.2	620972	ZNF608	Zinc finger protein 608	ZNF608	57507	ENSG00000168916			Zfp608 (MGI:2442338)
chr5	126360120	126494364	5q23.2	5q23.2	620182	GRAMD2B	GRAM domain-containing protein 2B	GRAMD2B	65983	ENSG00000155324			Gramd2b (MGI:1914815)
chr5	126541841	126595219	5q31	5q23.2	107323	ALDH7A1, ATQ1, EPD, PDE, EPEO4	Aldehyde dehydrogenase 7 family, member A1 (antiquitin 1)	ALDH7A1	501	ENSG00000164904		Epilepsy, early-onset, 4, vitamin B6-dependent, 266100 (3), Autosomal recessive	Aldh7a1 (MGI:108186)
chr5	126600947	126627252	5q23.2	5q23.2	604924	RNUXA, PHAX	RNA, U small nuclear, export adaptor	PHAX	51808	ENSG00000164902			Phax (MGI:1891839)
chr5	126776623	126837020	5q23.2	5q23.2	150340	LMNB1, ADLD, MCPH26, ADLDAT	Lamin B1	LMNB1	4001	ENSG00000113368		Leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical, 621061 (3), Autosomal dominant; Microcephaly 26, primary, autosomal dominant, 619179 (3), Autosomal dominant; Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical, 169500 (3), Autosomal dominant	Lmnb1 (MGI:96795)
chr5	126867714	127030558	5q23.2	5q23.2	613333	MARCH3	Membrane-associated RING-CH finger protein 3	MARCHF3	115123	ENSG00000173926			Marchf3 (MGI:2443667)
chr5	127229300	127461222	5q23.2	5q23.2	612453	MEGF10, KIAA1780, CMYO10A, CMYO10B	Multiple epidermal growth factor-like domains 10	MEGF10	84466	ENSG00000145794		Congenital myopathy 10A, severe variant, 614399 (3), Autosomal recessive; Congenital myopathy 10B, mild variant, 620249 (3), Autosomal recessive	Megf10 (MGI:2685177)
chr5	127649082	127658630	5q23.2	5q23.2	618746	KABE	Cortexin 3	CTXN3	613212	ENSG00000205279			Ctxn3 (MGI:3642816)
chr5	128083766	128189677	5q23.3	5q23.3	600840	SLC12A2, NKCC1, KILQS	Solute carrier family 12 (sodium/potassium/chloride transporters), member 2	SLC12A2	6558	ENSG00000064651		Kilquist syndrome, 619080 (3), Autosomal recessive; Delpire-McNeill syndrome, 619083 (3), Autosomal dominant; Deafness, autosomal dominant 78, 619081 (3), Autosomal dominant	Slc12a2 (MGI:101924)
chr5	128257909	128538245	5q23-q31	5q23.3	612570	FBN2, CCA, EOMD	Fibrillin-2	FBN2	2201	ENSG00000138829		Macular degeneration, early-onset, 616118 (3), Autosomal dominant; Contractural arachnodactyly, congenital, 121050 (3), Autosomal dominant	Fbn2 (MGI:95490)
chr5	128965488	129033635	5q23.3	5q23.3	604196	SLC27A6, FATP6, VLCSH1	Solute carrier family 27 (fatty acid transporter), member 6	SLC27A6	28965	ENSG00000113396			Slc27a6 (MGI:3036230)
chr5	129094749	129114028	5q23.3	5q23.3	620805	ISOC1	Isochorismatase domain-containing protein 1	ISOC1	51015	ENSG00000066583			Isoc1 (MGI:1913557)
chr5	129460298	129738683	5q31	5q23.3	607513	ADAMTS19, CVDP2	ADAM metallopeptidase domain with thrombospondin type 1 motif, 19	ADAMTS19	171019	ENSG00000145808		Cardiac valvular dysplasia 2, 620067 (3), Autosomal recessive	Adamts19 (MGI:2442875)
chr5	129748094	129766732	5q23.3	5q23.3	620215	MINAR2, KIAA1024L, DFNB120	Membrane integral NOTCH2-associated receptor 2	MINAR2	100127206	ENSG00000186367		Deafness, autosomal recessive 120, 620238 (3), Autosomal recessive	Minar2 (MGI:2442934)
chr5	129903979	130186634	5q31	5q23.3	609963	CHSY3, CSS3	Chondroitin sulfate synthase 3	CHSY3	337876	ENSG00000198108			Chsy3 (MGI:1926173)
chr5	131159027	131165256	5q31.2	5q23.3	601314	HINT1, PRKCNH1, NMAN	Histidine triad nucleotide-binding protein 1 (protein kinase C inhibitor 1)	HINT1	3094	ENSG00000169567		Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3), Autosomal recessive	Hint1 (MGI:1321133)
chr5	131170944	131205428	5q23.3	5q23.3-q31.1	615831	LYRM7, MZM1L, MC3DN8	LYR motif-containing protein 7	LYRM7	90624	ENSG00000186687		Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive	Lyrm7 (MGI:1922780)
chr5	131200001	160500000	5q31-q33		608174	AITD2	Autoimmune thyroid disease, susceptibility to, 2		387579			{Autoimmune thyroid disease, susceptibility to, 2}, 608174 (2)	
chr5	131200001	160500000	5q31-q33		605845	ATOD6	Dermatitis, atopic, 6		114477		between D5S436 and D5S643	{Dermatitis, atopic, susceptibility to, 6}, 605845 (2)	
chr5	131200001	160500000	5q31-q33		609754	CELIAC2	Celiac disease, susceptibility to, 2		317782			{Celiac disease, susceptibility to, 2}, 609754 (2)	
chr5	131200001	145100000	5q31		615649	DFNA54	Deafness, autosomal dominant 54		448962		between D5S1972 and D5S410	Deafness, autosomal dominant 54, 615649 (2), Autosomal dominant	
chr5	131200001	160500000	5q31-q33		131400	EOS	Eosinophilia, familial		7908			Eosinophilia, familial, 131400 (2), Autosomal dominant	
chr5	131200001	145100000	5q31		606348	IBD5	Inflammatory bowel disease 5		50941			{Inflammatory bowel disease 5}, 606348 (2)	
chr5	131200001	153300000	5q31.1-q33.1		605598	IDDM18	Insulin-dependent diabetes mellitus-18		57044		close to IL12B	{Diabetes mellitus, insulin-dependent, 18}, 605598 (2)	
chr5	131200001	136900000	5q31.1		147061	IGES	Immunoglobulin E concentration, serum		3478			{?Allergy and asthma susceptibility}, 147061 (2)	
chr5	131200001	136900000	5q31.1		186550	LBNBG	Liebenberg syndrome					Liebenberg syndrome, 186550 (4), Autosomal dominant	
chr5	131200001	145100000	5q31		604966	PCDHA@	Protocadherin-alpha gene cluster		56117				
chr5	131200001	145100000	5q31		604967	PCDHB@	Protocadherin-beta gene cluster		56116				
chr5	131200001	145100000	5q31		604968	PCDHG	Protocadherin-gamma gene cluster		56115				
chr5	131200001	145100000	5q31		606263	PDB4	Paget disease of bone 4		94003			Paget disease of bone 4, 606263 (2), Autosomal dominant	
chr5	131200001	160500000	5q31-q33		248310	PFBI	Plasmodium falciparum blood infection levels		7910			{Malaria, intensity of infection}, 248310 (2), Autosomal recessive	
chr5	131200001	153300000	5q31.1-q33.1		612599	PSORS11	Psoriasis susceptibility 11		100271719		associated with rs10045431	{Psoriasis susceptibility 11}, 612599 (2)	
chr5	131200001	145100000	5q31		615197	RLS8	Restless legs syndrome, susceptibility to, 8		101448072			{Restless legs syndrome 8}, 615197 (2)	
chr5	131200001	160500000	5q31-q33		181460	SM1	Schistosoma mansoni infection, susceptibility/resistance to		7911			{Schistosoma mansoni infection, susceptibility/resistance to}, 181460 (2), Autosomal dominant	
chr5	131210052	131394672	5q31	5q31.1	619457	CDC42SE2, SPEC2	CDC42 small effector 2	CDC42SE2	56990	ENSG00000158985			Cdc42se2 (MGI:1919979)
chr5	131423921	131635229	5q31.1	5q31.1	610499	RAPGEF6, RAGEF2, PDZGEF2	RAP guanine nucleotide exchange factor 6	RAPGEF6	51735	ENSG00000158987			Rapgef6 (MGI:2384761)
chr5	131641714	131797017	5q23.3	5q31.1	610594	FNIP1, KIAA1961, IMD93	Folliculin-interacting protein 1	FNIP1	96459	ENSG00000217128		Immunodeficiency 93 and hypertrophic cardiomyopathy, 619705 (3), Autosomal recessive	Fnip1 (MGI:2444668)
chr5	131806990	131945663	5q31.1	5q31.1	616232	MEIKIN	Meiotic kinetochore factor	MEIKIN	728637	ENSG00000239642			Meikin (MGI:1922097)
chr5	131949973	132012213	5q31	5q31.1	604443	ACSL6, FACL6, ACS2	Acyl-CoA synthetase long-chain family member 6	ACSL6	23305	ENSG00000164398			Acsl6 (MGI:894291)
chr5	132060655	132063204	5q31.1	5q31.1	147740	IL3	Interleukin-3	IL3	3562	ENSG00000164399	9kb from CSF2; order: cen-5'IL3-5'CF2-qter		Il3 (MGI:96552)
chr5	132073789	132076170	5q31.1	5q31.1	138960	CSF2, GMCSF	Colony-stimulating factor-2 (granulocyte-macrophage)	CSF2	1437	ENSG00000164400	order: cen-CSF2-CSF1-FMS-qter		Csf2 (MGI:1339752)
chr5	132190147	132227853	5q31	5q31.1	600608	P4HA2, MYP25	Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 2	P4HA2	8974	ENSG00000072682		Myopia 25, autosomal dominant, 617238 (3), Autosomal dominant	P4ha2 (MGI:894286)
chr5	132257696	132273454	5q31.1	5q31.1	603422	RIL	LIM domain protein ril	PDLIM4	8572	ENSG00000131435		{Osteoporosis, susceptibility to}, 166710 (3), Autosomal dominant	Pdlim4 (MGI:1353470)
chr5	132294394	132344190	5q31	5q31.1	604190	SLC22A4, OCTN1	Solute carrier family 22 (organic cation transporter), member 4	SLC22A4	6583	ENSG00000197208		{Rheumatoid arthritis, susceptibility to}, 180300 (3)	Slc22a4 (MGI:1353479)
chr5	132369710	132395612	5q31.1	5q31.1	603377	SLC22A5, OCTN2, CDSP, SCD	Solute carrier, family 22 (organic cation transporter), member 5	SLC22A5	6584	ENSG00000197375		Carnitine deficiency, systemic primary, 212140 (3), Autosomal recessive	Slc22a21,Slc22a5 (MGI:1329012,MGI:1929481)
chr5	132481609	132490773	5q31.1	5q31.1	147575	IRF1, MAR, IMD117	Interferon regulatory factor-1	IRF1	3659	ENSG00000125347		Nonsmall cell lung cancer, somatic, 211980 (3); Gastric cancer, somatic, 613659 (3); Immunodeficiency 117, mycobacteriosis, autosomal recessive, 620668 (3), Autosomal recessive	Irf1 (MGI:96590)
chr5	132541445	132556815	5q31.1	5q31.1	147850	IL5	Interleukin-5	IL5	3567	ENSG00000113525	< 310kb from IL4		Il5 (MGI:96557)
chr5	132556977	132646349	5q31	5q31.1	604040	RAD50, NBSLD	RAD50 double strand break repair protein	RAD50	10111	ENSG00000113522		Nijmegen breakage syndrome-like disorder, 613078 (3), Autosomal recessive	Rad50 (MGI:109292)
chr5	132656522	132661110	5q31	5q31.1	147683	IL13, ALRH, BHR1	Interleukin-13	IL13	3596	ENSG00000169194		{Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Allergic rhinitis, susceptibility to}, 607154 (3)	Il13 (MGI:96541)
chr5	132673989	132682678	5q31.1	5q31.1	147780	IL4	Interleukin-4	IL4	3565	ENSG00000113520			Il4 (MGI:96556)
chr5	132688812	132737546	5q31	5q31.1	604683	KIF3A	Kinesin family member 3A	KIF3A	11127	ENSG00000131437			Kif3a (MGI:107689)
chr5	132747426	132756065	5q31.1	5q31.1	620419	CCNI2	Cyclin I family, member 2	CCNI2	645121	ENSG00000205089			
chr5	132750819	132780083	5q31-q33	5q31.1	608418	SEPT8, KIAA0202	Septin 8	SEPTIN8	23176	ENSG00000164402			Septin8 (MGI:894310)
chr5	132822141	132830647	5q31.1	5q31.1	611179	SHROOM1, APXL2, KIAA1960	SHROOM family member 1	SHROOM1	134549	ENSG00000164403			Shroom1 (MGI:1919024)
chr5	132861185	132866651	5q31.1	5q31.1	601918	GDF9, POF14	Growth/differentiation factor 9	GDF9	2661	ENSG00000164404		Premature ovarian failure 14, 618014 (3), Autosomal recessive	Gdf9 (MGI:95692)
chr5	132866642	132868847	5q31.1	5q31.1	612080	UQCRQ, QPC, MC3DN4	Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kD	UQCRQ	27089	ENSG00000164405		Mitochondrial complex III deficiency, nuclear type 4, 615159 (3), Autosomal recessive	Uqcrq (MGI:107807)
chr5	132873668	132875046	5q31.1	5q31.1	611373	LEAP2	Liver-expressed antimicrobial peptide 2	LEAP2	116842	ENSG00000164406			Leap2 (MGI:2672795)
chr5	132875395	132963634	5q31	5q31.1	604417	AFF4, AF5Q31, CHOPS	AF4/FMR2 family, member 4	AFF4	27125	ENSG00000072364		CHOPS syndrome, 616368 (3), Autosomal dominant	Aff4 (MGI:2136171)
chr5	133052013	133106449	5q31.1	5q31.1	601113	HSPA4	Heat-shock protein family A (HSP70), member 4	HSPA4	3308	ENSG00000170606			Hspa4 (MGI:1342292)
chr5	133913677	133917269	5q31.1	5q31.1	616333	WSPAR, lncTCF7	WNT signaling pathway activating noncoding RNA	WSPAR	105664404	ENSG00000249073			
chr5	133971871	134114540	5q31	5q31.1	604492	VDAC1	Voltage-dependent anion channel 1	VDAC1	7416	ENSG00000213585			Vdac1 (MGI:106919)
chr5	134108218	134148210	5q31.1	5q31.1	189908	TCF7	Transcription factor-7, T-cell specific	TCF7	6932	ENSG00000081059	originally called TCF-1		Tcf7 (MGI:98507)
chr5	134148935	134176950	5q31	5q31.1	601434	SKP1, SKP1A, TCEB1L, OCP2	S-phase kinase-associated protein 1 (p19A)	SKP1	6500	ENSG00000113558	pseudogene on chr.7		Skp1 (MGI:103575)
chr5	134194332	134226073	5q23-q31	5q31.1	176915	PPP2CA, NEDLBA, HJS3	Protein phosphatase-2 (formerly 2A), catalytic subunit, alpha isoform	PPP2CA	5515	ENSG00000113575		Houge-Janssens syndrome 3, 618354 (3), Autosomal dominant	Ppp2ca (MGI:1321159)
chr5	134283345	134371624	5q31	5q31.1	608459	CDKL3, NKIAMRE	Cyclin-dependent kinase-like 3	CDKL3	51265	ENSG00000006837			Cdkl3 (MGI:2388268)
chr5	134371569	134392108	5q23-q31	5q31.1	179095	UBE2B, RAD6B	Ubiquitin-conjugating enzyme E2 B	UBE2B	7320	ENSG00000119048			Ube2b (MGI:102944)
chr5	134523952	134583227	5q31.1	5q31.1	610515	PHF15, JADE2, KIAA0239	PHD finger protein 15	JADE2	23338	ENSG00000043143			Jade2 (MGI:1924151)
chr5	134601149	134632828	5q31.1	5q31.1	607690	SAR1B, CMRD, SARA2, ANDD	Secretion-associated Ras-related GTPase 1B	SAR1B	51128	ENSG00000152700		Chylomicron retention disease, 246700 (3), Autosomal recessive	Sar1b (MGI:1913647)
chr5	134648382	134727909	5q31.1	5q31.1	607183	SEC24A	SEC24-related gene family, member A	SEC24A	10802	ENSG00000113615			Sec24a (MGI:1924621)
chr5	134738548	134752157	5q23	5q31.1	601118	CAMLG, CDG2Z	Calcium-modulating cyclophilin ligand	CAMLG	819	ENSG00000164615	mutation identified in 1 CDG2Z patient	?Congenital disorder of glycosylation, type IIz, 620201 (3), Autosomal recessive	Caml (MGI:104728)
chr5	134758779	134831121	5q31.1	5q31.1	617848	DDX46, PRP5, KIAA0801	DEAD-box helicase 46	DDX46	9879	ENSG00000145833			Ddx46 (MGI:1920895)
chr5	134873770	134901635	5q31.1	5q31.1	617778	TXNDC15, C5orf14, BUG, MKS14	Thioredoxin domain-containing protein 15	TXNDC15	79770	ENSG00000113621		Meckel syndrome 14, 619879 (3), Autosomal recessive	Txndc15 (MGI:1916922)
chr5	134905131	134962644	5q31.2	5q31.1	609836	PCBD2, DCOH2, DCOHM	Pterin-4-alpha-carbinolamine dehydratase 2	PCBD2	84105	ENSG00000132570			Pcbd2 (MGI:1919812)
chr5	134967907	135011696	5q31.1	5q31.1	609120	CATSPER3, CACRC	Cation channel, sperm-associated, 3	CATSPER3	347732	ENSG00000152705			Catsper3 (MGI:1924106)
chr5	135027734	135034789	5q31	5q31.1	602149	PITX1, PTX1, BFT, POTX, CCF	Paired-like homeodomain transcription factor-1	PITX1	5307	ENSG00000069011		Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3), Autosomal dominant	Pitx1 (MGI:107374)
chr5	135334381	135399887	5q31.3-q32	5q31.1	610054	MACROH2A1, H2AFY, MH2A1	MacroH2A.1 histone	MACROH2A1	9555	ENSG00000113648			Macroh2a1 (MGI:1349392)
chr5	135444214	135447348	5q31.1	5q31.1	609710	C5orf20, DCNP1	Dendritic cell nuclear protein 1	DCANP1	140947	ENSG00000251380			
chr5	135444226	135452351	5q31.2	5q31.1	612663	TIFAB	TRAF-interacting protein with forkhead-associated domain, family member B	TIFAB	497189	ENSG00000255833			Tifab (MGI:2385852)
chr5	135534282	135535964	5q23-q31	5q31.1	601726	NEUROG1, NEUROD3, CCDDRD	Neurogenin 1	NEUROG1	4762	ENSG00000181965		Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, 620469 (3), Autosomal recessive	Neurog1 (MGI:107754)
chr5	135570679	135578991	5q31	5q31.1	604186	CXCL14, SCYB14, BRAK	Chemokine, C-X-C motif, ligand 14	CXCL14	9547	ENSG00000145824			Cxcl14 (MGI:1888514)
chr5	135579172	135888637	5q31.1	5q31.1	616150	SLC25A48	Solute carrier family 25, member 48	SLC25A48	153328	ENSG00000145832			Slc25a48 (MGI:2145373)
chr5	135892246	135895841	5q31.1	5q31.1	146931	IL9	Interleukin-9	IL9	3578	ENSG00000145839			Il9 (MGI:96563)
chr5	135930297	135941996	5q31.1	5q31.1	609087	FBXL21, FBL21, FBXL3B, FBL3B	F-box and leucine-rich repeat protein 21	FBXL21P	26223				
chr5	135946904	135954983	5q31.1-q32	5q31.1	602882	LECT2	Leukocyte cell-derived chemotaxin 2	LECT2	3950	ENSG00000145826			Lect2 (MGI:1278342)
chr5	136028988	136063818	5q31	5q31.1	601692	TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD	Transforming growth factor, beta-induced, 68kD	TGFBI	7045	ENSG00000120708		Corneal dystrophy, Avellino type, 607541 (3), Autosomal dominant; Corneal dystrophy, Reis-Bucklers type, 608470 (3), Autosomal dominant; Corneal dystrophy, Thiel-Behnke type, 602082 (3), Autosomal dominant; Corneal dystrophy, Groenouw type I, 121900 (3), Autosomal dominant; Corneal dystrophy, epithelial basement membrane, 121820 (3), Autosomal dominant; Corneal dystrophy, lattice type I, 122200 (3), Autosomal dominant; Corneal dystrophy, lattice type IIIA, 608471 (3), Autosomal dominant	Tgfbi (MGI:99959)
chr5	136080491	136080598	5q31	5q31.1	614938	VTRNA2-1, NC886, CBL3, VTRNA2	Vault RNA 2-1	VTRNA2-1	100126299	ENSG00000270123			
chr5	136129513	136134890	5q31.1	5q31.1	620035	SMAD5AS1, DAMS	SMAD5 antisense RNA1, noncoding	SMAD5-AS1	9597	ENSG00000164621			
chr5	136132845	136182733	5q31.1	5q31.1	603110	MADH5, SMAD5	Mothers against decapentaplegic, Drosophila, homolog of, 5	SMAD5	4090	ENSG00000113658			Smad5 (MGI:1328787)
chr5	136975298	137499326	5q31	5q31.2	602264	SPOCK	Testican	SPOCK1	6695	ENSG00000152377	previously mapped to chr.21		Spock1 (MGI:105371)
chr5	137617500	137736089	5q31	5q31.2	605775	KLHL3, PHA2D	Kelch-like 3	KLHL3	26249	ENSG00000146021		Pseudohypoaldosteronism, type IID, 614495 (3), Autosomal recessive, Autosomal dominant	Klhl3 (MGI:2445185)
chr5	137647572	137647649	5q31.2	5q31.2	619450	MIR874	Micro RNA 874	MIR874	100126343	ENSG00000216009			Mir874 (MGI:3718564)
chr5	137745651	137754363	5q31	5q31.2	609409	HNRPA0	Heterogeneous nuclear ribonucleoprotein A0	HNRNPA0	10949	ENSG00000177733			Hnrnpa0 (MGI:1924384)
chr5	137801193	137810751	5q31	5q31.2	601770	NPY6R, PP2	Neuropeptide Y receptor Y6	NPY6R	4888	ENSG00000293504	?nonfunctional pseudogene		
chr5	137867860	137887851	5q31	5q31.2	604103	MYOT, TTOD, MFM3	Myotilin (titin immunoglobulin domain protein)	MYOT	9499	ENSG00000120729		Myopathy, myofibrillar, 3, 609200 (3), Autosomal dominant	Myot (MGI:1889800)
chr5	137889457	137942747	5q31	5q31.2	604669	PKD2L2	Polycystin 2-like 2	PKD2L2	27039	ENSG00000078795			Pkd2l2 (MGI:1858231)
chr5	137937960	138052178	5q31.2	5q31.2	609371	FAM13B, C5orf5	Family with sequence similarity 13, member B	FAM13B	51306	ENSG00000031003			Fam13b (MGI:2447834)
chr5	138077367	138092365	5q31.2	5q31.2	606360	WNT8A	Wingless-type MMTV integration site family, member 8A	WNT8A	7478	ENSG00000061492			Wnt8a (MGI:107924)
chr5	138115175	138139428	5q23-q31	5q31.2	603575	NME5, NM23H5, CILD48	NME/NM23 family, member 5	NME5	8382	ENSG00000112981		Ciliary dyskinesia, primary, 48, without situs inversus, 620032 (3), Autosomal recessive	Nme5 (MGI:1922783)
chr5	138139770	138178630	5q31.2	5q31.2	602848	BRD8, SMAP	Bromodomain-containing protein 8	BRD8	10902	ENSG00000112983			Brd8 (MGI:1925906)
chr5	138179112	138187723	5q31	5q31.2	605664	KIF20A, RAB6KIFL, RCM6	Kinesin family member 20A	KIF20A	10112	ENSG00000112984	mutation identified in 1 RCM6 family	?Cardiomyopathy, familial restrictive, 6, 619433 (3), Autosomal recessive	Kif20a (MGI:1201682)
chr5	138187650	138213323	5q31.1	5q31.2	603462	CDC23, APC8	Cell division cycle 23 (anaphase-promoting complex 8)	CDC23	8697	ENSG00000094880			Cdc23 (MGI:1098815)
chr5	138252380	138274621	5q31	5q31.2	605710	GFRA3	GDNF family receptor alpha-3	GFRA3	2676	ENSG00000146013			Gfra3 (MGI:1201403)
chr5	138285265	138338355	5q31	5q31.2	157680	CDC25C	Cell division cycle 25C	CDC25C	995	ENSG00000158402			Cdc25c (MGI:88350)
chr5	138337557	138349729	5q31.2	5q31.2	609372	FAM53C, C5orf6	Family with sequence similarity 53, member C	FAM53C	51307	ENSG00000120709			Fam53c (MGI:1913556)
chr5	138352685	138437027	5q31	5q31.2	609373	KDM3B, C5orf7, KIAA1082, JMJD1B, DIJOS	Lysine demethylase 3B	KDM3B	51780	ENSG00000120733		Diets-Jongmans syndrome, 618846 (3), Autosomal dominant	Kdm3b (MGI:1923356)
chr5	138439057	138446965	5q31	5q31.2	609347	REEP2, C5orf19, SPG72A, SPG72B	Receptor expression-enhancing protein 2	REEP2	51308	ENSG00000132563	mutation identified in 1 SPG72B family	Spastic paraplegia 72A, autosomal dominant, 615625 (3), Autosomal dominant; ?Spastic paraplegia 72B, autosomal recessive, 620606 (3), Autosomal recessive	Reep2 (MGI:2385070)
chr5	138465479	138469303	5q31.1	5q31.2	128990	EGR1	Early growth response-1	EGR1	1958	ENSG00000120738			Egr1 (MGI:95295)
chr5	138506095	138543236	5q31.1	5q31.2	600285	ETF1, RF1, ERF1	Eukaryotic translation termination factor-1	ETF1	2107	ENSG00000120705			Etf1 (MGI:2385071)
chr5	138553756	138575401	5q31.2	5q31.2	600548	HSPA9, HSPA9B, MOT2, GRP75, EVPLS, SIDBA4	Heat-shock 70kD protein-9 (mortalin)	HSPA9	3313	ENSG00000113013		Even-plus syndrome, 616854 (3), Autosomal recessive; Anemia, sideroblastic, 4, 182170 (3), Autosomal dominant	Hspa9 (MGI:96245)
chr5	138753425	138935034	5q31	5q31.2	116805	CTNNA1, MDPT2	Catenin (cadherin-associated protein), alpha 1, 102kD	CTNNA1	1495	ENSG00000044115		Macular dystrophy, patterned, 2, 608970 (3), Autosomal dominant	Ctnna1 (MGI:88274)
chr5	138868921	138875335	5q31.2	5q31.2	610868	LRRTM2, KIAA0416	Leucine-rich repeat transmembrane protein 2	LRRTM2	26045	ENSG00000146006			Lrrtm2 (MGI:2389174)
chr5	138946724	139198368	5q31	5q31.2	608005	SIL1, BAP, MSS	SIL1 nucleotide exchange factor	SIL1	64374	ENSG00000120725		Marinesco-Sjogren syndrome, 248800 (3), Autosomal recessive	Sil1 (MGI:1932040)
chr5	139274101	139331677	5q31.2	5q31.2	164015	MATR3, MPD2, ALS21	Matrin 3	MATR3	9782	ENSG00000015479		Amyotrophic lateral sclerosis 21, 606070 (3), Autosomal dominant	Matr3 (MGI:1298379)
chr5	139274101	139284900	5q31.2	5q31.2	621088	SNHG4, U19H	Small nucleolar RNA host gene 4	SNHG4	724102	ENSG00000281398			
chr5	139278780	139278979	5q31.2	5q31.2	621089	SNORA74A, RNU19	Small nucleolar RNA, H/ACA box, 74A	SNORA74A	26821	ENSG00000200959			
chr5	139341854	139369717	5q31.2	5q31.2	605604	PAIP2, PAIP2A	Polyadenylate-binding protein-interacting protein 2	PAIP2	51247	ENSG00000120727			Paip2 (MGI:1915119)
chr5	139367196	139385676	5q31.2-q31.3	5q31.2	603790	SLC23A1, SVCT1	Solute carrier family 23 (nucleobase transporter), member 1 (sodium-dependent vitamin C transporter 1)	SLC23A1	9963	ENSG00000170482	opposite orientation to MATR3		Slc23a1 (MGI:1341903)
chr5	139387467	139389913	5q31.2	5q31.2	609447	MZB1, PACAP, MGC29506	Marginal zone B and B1 cell-specific protein	MZB1	51237	ENSG00000170476			Mzb1 (MGI:1917066)
chr5	139392500	139404089	5q31.2	5q31.2	621086	SPATA24	Spermatogenesis-associated protein 24	SPATA24	202051	ENSG00000170469			Spata24 (MGI:1918492)
chr5	139410203	139439525	5q31.2	5q31.2	621108	DNAJC2	DNAJ/HSP40 homolog, subfamily C, member 18	DNAJC18	202052	ENSG00000170464			
chr5	139448560	139462743	5q31	5q31.2	615736	ECSCR, ECSM2, ARIA	Endothelial cell surface-expressed chemotaxis and apoptosis regulator	ECSCR	641700	ENSG00000249751			Ecscr (MGI:1915795)
chr5	139475533	139482758	5q31.2	5q31.2	612374	STING1, TMEM173, MPYS, SAVI	Stimulator of interferon response cGAMP interactor 1	STING1	340061	ENSG00000184584		STING-associated vasculopathy, infantile-onset, 615934 (3), Autosomal dominant	Sting1 (MGI:1919762)
chr5	139526240	139628434	5q31.2	5q31.2	602962	UBE2D2, UBCH5B, UBC4	Ubiquitin-conjugating enzyme E2 D2	UBE2D2	7322	ENSG00000131508			Ube2d2a (MGI:1930715)
chr5	139647299	139683882	5q31.3	5q31.2	612752	CXXC5	CXXC finger protein 5	CXXC5	51523	ENSG00000171604			Cxxc5 (MGI:1914643)
chr5	139742475	139844466	5q31.2	5q31.2	620656	PSD2, EFA6C	Pleckstrin and Sec7 domains-containing protein 2	PSD2	84249	ENSG00000146005			Psd2 (MGI:1921252)
chr5	139846781	140043299	5q23-q33	5q31.2	603818	NRG2	Neuregulin 2	NRG2	9542	ENSG00000158458			Nrg2 (MGI:1098246)
chr5	140114109	140125619	5q31	5q31.3	600473	PURA, PUR1, NEDRIHF	Purine-rich element binding protein A	PURA	5813	ENSG00000185129		Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, 616158 (3), Autosomal dominant	Pura (MGI:103079)
chr5	140245035	140303101	5q31	5q31.3	604897	PFDN1	Prefoldin 1	PFDN1	5201	ENSG00000113068			Pfdn1 (MGI:1914449)
chr5	140332843	140346603	5q23	5q31.3	126150	HBEGF, DTR, DTSF, HEGFL	Heparin-binding EGF-like growth factor (diphtheria toxin receptor)	HBEGF	1839	ENSG00000113070		{Diphtheria, susceptibility to} (1)	Hbegf (MGI:96070)
chr5	140360194	140375141	5q31.3	5q31.3	610207	SLC4A9, AE4	Solute carrier family 4 (anion exchanger), member 9	SLC4A9	83697	ENSG00000113073			Slc4a9 (MGI:2443384)
chr5	140401833	140539849	5q31.3	5q31.3	610500	ANKHD1, MASK, KIAA1085, VBARP	Ankyrin repeat and KH domain-containing protein 1	ANKHD1	54882	ENSG00000131503			Ankhd1 (MGI:1921733)
chr5	140547662	140549576	5q31.3	5q31.3	603483	EIF4EBP3	Eukaryotic translation initiation factor 4E-binding protein 3	EIF4EBP3	8637	ENSG00000243056			Eif4ebp3 (MGI:1270847)
chr5	140550067	140558093	5q31.3	5q31.3	603819	SRA1	Steroid receptor RNA activator 1	SRA1	10011	ENSG00000213523			Sra1 (MGI:1344414)
chr5	140558268	140564598	5q31	5q31.3	602711	APBB3, FE65L2	Amyloid beta (A4) precursor protein-binding, family B, member 3	APBB3	10307	ENSG00000113108			Apbb3 (MGI:108404)
chr5	140564828	140569100	5q31.3	5q31.3	620297	SLC35A4	Solute carrier family 35, member A4	SLC35A4	113829	ENSG00000176087			Slc35a4 (MGI:1915093)
chr5	140631732	140633701	5q31.1	5q31.3	158120	CD14	CD14 antigen	CD14	929	ENSG00000170458			Cd14 (MGI:88318)
chr5	140645285	140647630	5q31.2	5q31.3	602137	NDUFA2, MC1DN13	NADH-ubiquinone oxidoreductase subunit A2	NDUFA2	4695	ENSG00000131495		Mitochondrial complex I deficiency, nuclear type 13, 618235 (3), Autosomal recessive	Ndufa2 (MGI:1343103)
chr5	140647829	140662480	5q31.3	5q31.3	600549	IK, RED	IK cytokine, downregulator of HLA II	IK	3550	ENSG00000113141			Ik (MGI:1345142)
chr5	140664904	140672345	5q31.3	5q31.3	620832	WDR55	WD repeat-containing protein 55	WDR55	54853	ENSG00000120314			Wdr55 (MGI:1915186)
chr5	140670794	140673576	5q31.3	5q31.3	609385	DND1	DND micro RNA-mediated repression inhibitor 1	DND1	373863	ENSG00000256453			Dnd1 (MGI:2447763)
chr5	140673905	140691370	5q31.3	5q31.3	142810	HARS1, HARS, USH3B, CMT2W	Histidyl-tRNA synthetase 1	HARS1	3035	ENSG00000170445		Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3), Autosomal dominant; Usher syndrome type 3B, 614504 (3), Autosomal recessive	Hars1 (MGI:108087)
chr5	140691455	140699305	5q31.3	5q31.3	600783	HARS2, HARSL, HARSR, HO3, PRLTS2	Histidyl-tRNA synthetase 2	HARS2	23438	ENSG00000112855		Perrault syndrome 2, 614926 (3), Autosomal recessive	Hars2 (MGI:1918041)
chr5	140700447	140706686	5q31.3	5q31.3	619930	ZMAT2, SNU23	Zinc finger, matrin-type 2	ZMAT2	153527	ENSG00000146007			Zmat2 (MGI:1913742)
chr5	140711276	140711373	5q31	5q31.3	612695	VTRNA1-1, HVG1, VAULTRC1	Vault RNA 1-1	VTRNA1-1	56664	ENSG00000199990			
chr5	140718926	140719013	5q31	5q31.3	612696	VTRNA1-2, HVG2, VAULTRC2	Vault RNA 1-2	VTRNA1-2	56663	ENSG00000202111			
chr5	140726159	140726246	5q31	5q31.3	612697	VTRNA1-3, HVG3, VAULTRC3	Vault RNA 1-3	VTRNA1-3	56662	ENSG00000202515			
chr5	140786136	141012347	5q31	5q31.3	606307	PCDHA1	Protocadherin-alpha 1	PCDHA1	56147	ENSG00000204970			Pcdha1 (MGI:2150982)
chr5	140794852	141012347	5q31	5q31.3	606308	PCDHA2	Protocadherin-alpha 2	PCDHA2	56146	ENSG00000204969			Pcdha2 (MGI:2681880)
chr5	140801057	141012347	5q31	5q31.3	606309	PCDHA3	Protocadherin-alpha 3	PCDHA3	56145	ENSG00000255408			Pcdha3 (MGI:2447313)
chr5	140807068	141012347	5q31	5q31.3	606310	PCDHA4	Protocadherin-alpha 4	PCDHA4	56144	ENSG00000204967			Pcdha4,Pcdha4b (MGI:1298406,MGI:5610241)
chr5	140821613	141012347	5q31	5q31.3	606311	PCDHA5	Protocadherin-alpha 5	PCDHA5	56143	ENSG00000204965			Pcdha5 (MGI:1298371)
chr5	140827960	141012347	5q31	5q31.3	606312	PCDHA6	Protocadherin-alpha 6	PCDHA6	56142	ENSG00000081842			Pcdha6 (MGI:1298367)
chr5	140834269	141012347	5q31	5q31.3	606313	PCDHA7	Protocadherin-alpha 7	PCDHA7	56141	ENSG00000204963			Pcdha7 (MGI:1298369)
chr5	140841187	141012347	5q31	5q31.3	606314	PCDHA8	Protocadherin-alpha 8	PCDHA8	56140	ENSG00000204962			Pcdha6 (MGI:1298367)
chr5	140847772	141012347	5q31	5q31.3	606315	PCDHA9	Protocadherin-alpha 9	PCDHA9	9752	ENSG00000204961			Pcdha8 (MGI:2681879)
chr5	140855897	141012347	5q31	5q31.3	606316	PCDHA10	Protocadherin-alpha 10	PCDHA10	56139	ENSG00000250120			Pcdha9 (MGI:2447322)
chr5	140867513	141012347	5q31	5q31.3	606317	PCDHA11	Protocadherin-alpha 11	PCDHA11	56138	ENSG00000249158			Pcdha11 (MGI:1298372)
chr5	140875308	141012347	5q31	5q31.3	606318	PCDHA12	Protocadherin-alpha 12	PCDHA12	56137	ENSG00000251664			Pcdha10 (MGI:1298408)
chr5	140882124	141012347	5q31	5q31.3	606319	PCDHA13	Protocadherin-alpha 13	PCDHA13	56136	ENSG00000239389			Pcdha12 (MGI:1298370)
chr5	140926299	141012347	5q31	5q31.3	606320	PCDHAC1	Protocadherin-alpha, subfamily C, member 1	PCDHAC1	56135	ENSG00000248383			Pcdhac1 (MGI:1891442)
chr5	140966476	141012347	5q31	5q31.3	606321	PCDHAC2	Protocadherin-alpha, subfamily C, member 2	PCDHAC2	56134	ENSG00000243232			Pcdhac2 (MGI:1891443)
chr5	141051374	141059346	5q31	5q31.3	606327	PCDHB1	Protocadherin-beta 1	PCDHB1	29930	ENSG00000171815			Pcdhb1 (MGI:2136730)
chr5	141094615	141098703	5q31	5q31.3	606328	PCDHB2	Protocadherin-beta 2	PCDHB2	56133	ENSG00000112852			Pcdhb2 (MGI:2136735)
chr5	141100473	141103827	5q31	5q31.3	606329	PCDHB3	Protocadherin-beta 3	PCDHB3	56132	ENSG00000113205			Pcdhb3 (MGI:2136737)
chr5	141121818	141125623	5q31	5q31.3	606330	PCDHB4	Protocadherin-beta 4	PCDHB4	56131	ENSG00000081818			Pcdhb5,Pcdhb7,Pcdhb9 (MGI:2136739,MGI:2136741,MGI:2136744)
chr5	141135206	141138615	5q31	5q31.3	606331	PCDHB5	Protocadherin-beta 5	PCDHB5	26167	ENSG00000113209			Pcdhb10,Pcdhb11,Pcdhb12,Pcdhb4,Pcdhb6,Pcdhb8 (MGI:2136738,MGI:2136740,MGI:2136742,MGI:2136745,MGI:2136746,MGI:2136747)
chr5	141150057	141153287	5q31	5q31.3	606332	PCDHB6	Protocadherin-beta 6	PCDHB6	56130	ENSG00000113211			Pcdhb13 (MGI:2136748)
chr5	141172644	141176383	5q31	5q31.3	606333	PCDHB7	Protocadherin-beta 7	PCDHB7	56129	ENSG00000113212			Pcdhb15 (MGI:2136750)
chr5	141177790	141180539	5q31	5q31.3	606334	PCDHB8	Protocadherin-beta 8	PCDHB8	56128	ENSG00000120322			Pcdhb16 (MGI:2136752)
chr5	141182387	141186226	5q31	5q31.3	606345	PCDHB16	Protocadherin-beta 16	PCDHB16	57717	ENSG00000272674			Pcdhb17 (MGI:2136754)
chr5	141187161	141191541	5q31	5q31.3	606335	PCDHB9	Protocadherin-beta 9	PCDHB9	56127	ENSG00000177839			Pcdhb18 (MGI:2136756)
chr5	141192353	141195647	5q31	5q31.3	606336	PCHB10	Protocadherin-beta 10	PCDHB10	56126	ENSG00000120324			Pcdhb18 (MGI:2136756)
chr5	141199627	141203779	5q31	5q31.3	606337	PCDHB11	Protocadherin-beta 11	PCDHB11	56125	ENSG00000197479			Pcdhb19,Pcdhb21 (MGI:2136757,MGI:2136759)
chr5	141208719	141212571	5q31	5q31.3	606338	PCDHB12	Protocadherin-beta 12	PCDHB12	56124	ENSG00000120328			Pcdhb19 (MGI:2136757)
chr5	141213919	141218979	5q31	5q31.3	606339	PCDHB13	Protocadherin-beta 13	PCDHB13	56123	ENSG00000187372			Pcdhb16 (MGI:2136752)
chr5	141223343	141227759	5q31	5q31.3	606340	PCDHB14	Protocadherin-beta 14	PCDHB14	56122	ENSG00000120327			Pcdhb20 (MGI:2136758)
chr5	141245395	141249365	5q31	5q31.3	606341	PCDHB15	Protocadherin-beta 15	PCDHB15	56121	ENSG00000113248			Pcdhb22 (MGI:2136760)
chr5	141302635	141304049	5q31	5q31.3	608157	SLC25A2, ORNT2	Solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 2	SLC25A2	83884	ENSG00000120329			Slc25a2 (MGI:2137907)
chr5	141318490	141320784	5q31	5q31.3	600573	TAF7, TAF2F, TAFII55	TAF7 RNA polymerase II, TATA box-binding protein-associated factor, 55kD	TAF7	6879	ENSG00000178913			Taf7 (MGI:1346348)
chr5	141330514	141512975	5q31	5q31.3	606288	PCDHGA1	Protocadherin-gamma, subfamily A, member 1	PCDHGA1	56114	ENSG00000204956			Pcdhga1 (MGI:1935212)
chr5	141338760	141512975	5q31	5q31.3	606289	PCDHGA2	Protocadherin-gamma, subfamily A, member 2	PCDHGA2	56113	ENSG00000081853			Pcdhga2 (MGI:1935214)
chr5	141343829	141512975	5q31	5q31.3	606290	PCDHGA3	Protocadherin-gamma, subfamily A, member 3	PCDHGA3	56112	ENSG00000254245			Pcdhga3 (MGI:1935215)
chr5	141350099	141512975	5q31	5q31.3	606299	PCDHGB1	Protocadherin-gamma, subfamily B, member 1	PCDHGB1	56104	ENSG00000254221			Pcdhgb1 (MGI:1935169)
chr5	141355021	141512975	5q31	5q31.3	606291	PCDHGA4	Protocadherin-gamma, subfamily A, member 4	PCDHGA4	56111	ENSG00000262576			Pcdhga4 (MGI:1935216)
chr5	141359994	141512975	5q31	5q31.3	606300	PCDHGB2	Protocadherin-gamma, subfamily B, member 2	PCDHGB2	56103	ENSG00000253910			Pcdhgb2 (MGI:1935170)
chr5	141364162	141512975	5q31	5q31.3	606292	PCDHGA5	Protocadherin-gamma, subfamily A, member 5	PCDHGA5	56110	ENSG00000253485			Pcdhga5 (MGI:1935217)
chr5	141370242	141512975	5q31	5q31.3	606301	PCDHGB3	Protocadherin-gamma, subfamily B, member 3	PCDHGB3	56102	ENSG00000262209			Pcdhgb8 (MGI:1935200)
chr5	141373891	141512975	5q31	5q31.3	606293	PCDHGA6	Protocadherin-gamma, subfamily A, member 6	PCDHGA6	56109	ENSG00000253731			Pcdhga6 (MGI:1935218)
chr5	141382742	141512975	5q31	5q31.3	606294	PCDHGA7	Protocadherin-gamma, subfamily A, member 7	PCDHGA7	56108	ENSG00000253537			Pcdhga7 (MGI:1935219)
chr5	141387698	141512975	5q31	5q31.3	603058	PCDHGB4	Protocadherin-gamma, subfamily B, member 4	PCDHGB4	8641	ENSG00000253953			Pcdhgb4 (MGI:1935173)
chr5	141392633	141512975	5q31	5q31.3	606295	PCDHGA8	Protocadherin-gamma, subfamily A, member 8	PCDHGA8	9708	ENSG00000253767			Pcdhga8 (MGI:1935221)
chr5	141397947	141512975	5q31	5q31.3	606302	PCDHGB5	Protocadherin-gamma, subfamily B, member 5	PCDHGB5	56101	ENSG00000276547			Pcdhgb5 (MGI:1935196)
chr5	141402778	141512975	5q31	5q31.3	606296	PCDHGA9	Protocadherin-gamma, subfamily A, member 9	PCDHGA9	56107	ENSG00000261934			Pcdhga9 (MGI:1935226)
chr5	141408021	141512975	5q31	5q31.3	606303	PCDHGB6	Protocadherin-gamma, subfamily B, member 6	PCDHGB6	56100	ENSG00000253305			Pcdhgb6 (MGI:1935197)
chr5	141412987	141512975	5q31	5q31.3	606297	PCDHGA10	Protocadherin-gamma, subfamily A, member 10	PCDHGA10	56106	ENSG00000253846			Pcdhga10 (MGI:1935227)
chr5	141417677	141512975	5q31	5q31.3	606304	PCDHGB7	Protocadherin-gamma, subfamily B, member 7	PCDHGB7	56099	ENSG00000254122			Pcdhgb7 (MGI:1935199)
chr5	141421051	141512975	5q31	5q31.3	606298	PCDHGA11	Protocadherin-gamma, subfamily A, member 11	PCDHGA11	56105	ENSG00000253873			Pcdhga11 (MGI:1935228)
chr5	141430507	141512975	5q31	5q31.3	603059	PCDHGA12	Protocadherin-gamma, subfamily A, member 12	PCDHGA12	26025	ENSG00000253159			Pcdhga12 (MGI:1935229)
chr5	141475966	141512975	5q31	5q31.3	603627	PCDHGC3	Protocadherin-gamma, subfamily C, member 3	PCDHGC3	5098	ENSG00000240184			Pcdhgc3 (MGI:1935201)
chr5	141485030	141512975	5q31	5q31.3	606305	PCDHGC4, NEDGS	Protocadherin-gamma, subfamily C, member 4	PCDHGC4	56098	ENSG00000242419		Neurodevelopmental disorder with poor growth and skeletal anomalies, 619880 (3), Autosomal recessive	Pcdhgc4 (MGI:1935203)
chr5	141489081	141512975	5q31	5q31.3	606306	PCDHGC5	Protocadherin-gamma, subfamily C, member 5	PCDHGC5	56097	ENSG00000240764			Pcdhgc5 (MGI:1935205)
chr5	141515021	141619000	5q31	5q31.3	602121	DIAPH1, DFNA1, LFHL1, SCBMS	Diaphanous-related formin 1	DIAPH1	1729	ENSG00000131504		Deafness, autosomal dominant 1, with or without thrombocytopenia, 124900 (3), Autosomal dominant; Seizures, cortical blindness, microcephaly syndrome, 616632 (3), Autosomal recessive	Diaph1 (MGI:1194490)
chr5	141620881	141636849	5q31	5q31.3	605166	HDAC3	Histone deacetylase 3	HDAC3	8841	ENSG00000171720			Hdac3 (MGI:1343091)
chr5	141636997	141641064	5q31.3	5q31.3	611213	RELL2	Relt-like 2	RELL2	285613	ENSG00000164620			Rell2 (MGI:1918044)
chr5	141639302	141651418	5q31.3	5q31.3	617555	FCHSD1, NWK2	FCH and double SH3 domains protein 1	FCHSD1	89848	ENSG00000197948			Fchsd1 (MGI:2441771)
chr5	141653402	141682230	5q31.3	5q31.3	606647	ARAP3, CENTD3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	ARAP3	64411	ENSG00000120318			Arap3 (MGI:2147274)
chr5	141853090	141878410	5q32-q33	5q31.3	603626	PCDH1, PC42	Protocadherin 1 (cadherin-like 1)	PCDH1	5097	ENSG00000156453			Pcdh1 (MGI:104692)
chr5	141923871	141942047	5q31.3	5q31.3	615741	DELE1, KIAA0141	DAP3 binding cell death enhancer 1	DELE1	9812	ENSG00000081791			Dele1 (MGI:1914089)
chr5	141943581	141958202	5q31	5q31.3	605622	PCDH12, VECAD2, DMJDS1	Protocadherin 12 (cadherin, vascular endothelial, 2)	PCDH12	51294	ENSG00000113555		Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 (3), Autosomal recessive	Pcdh12 (MGI:1855700)
chr5	141949337	141990292	5q23.3-q31.1	5q31.3	605675	RNF14, ARA54	RING finger protein-14	RNF14	9604	ENSG00000013561			Rnf14 (MGI:1929668)
chr5	142000671	142013027	5q31	5q31.3	601798	GNPDA1, GNP1, GNPI, KIAA0060	Glucosamine 6-phosphate deaminase 1	GNPDA1	10007	ENSG00000113552			Gnpda1 (MGI:1347054)
chr5	142108779	142154440	5q31.3	5q31.3	612050	NDFIP1, N4WBP5	NEDD4 family-interacting protein 1	NDFIP1	80762	ENSG00000131507			Ndfip1 (MGI:1929601)
chr5	142310430	142325021	5q31.3	5q31.3	607984	SPRY4, HH17	SPRY domain containing 4	SPRY4	81848	ENSG00000187678		Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3), Autosomal dominant	Spry4 (MGI:1345144)
chr5	142317620	142318322	5q31.3	5q31.3	617617	SPRY4IT1	SPRY4 intronic transcript 1	SPRY4-IT1	100642175		in intron 2 of SPRY4		
chr5	142592178	142698070	5q31	5q31.3	131220	FGF1, FGFA	Fibroblast growth factor-1 (acidic)	FGF1	2246	ENSG00000113578			Fgf1 (MGI:95515)
chr5	142770377	143229011	5q31	5q31.3	605370	ARHGAP26, GRAF	RHO GTPase-activating protein 26	ARHGAP26	23092	ENSG00000145819		Leukemia, juvenile myelomonocytic, somatic, 607785 (3)	Arhgap26 (MGI:1918552)
chr5	143277931	143435512	5q31	5q31.3	138040	NR3C1, GCR, GRL, GCRST	Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	NR3C1	2908	ENSG00000113580		Glucocorticoid resistance, 615962 (3), Autosomal dominant	Nr3c1 (MGI:95824)
chr5	143812161	143820716	5q32	5q31.3	609961	HLA-HB1	Minor histocompatibility antigen HB-1	HMHB1	57824	ENSG00000158497			
chr5	144158162	144170659	5q32	5q31.3	611483	YIPF5, SMAP5, YIP1A, MEDS2	Yip1 domain family, member 5	YIPF5	81555	ENSG00000145817		Microcephaly, epilepsy, and diabetes syndrome 2, 619278 (3), Autosomal recessive	Yipf5 (MGI:1914430)
chr5	144170873	144485686	5q31.3	5q31.3	613423	KCTD16, KIAA1317	Potassium channel tetramerization domain-containing 16	KCTD16	57528	ENSG00000183775			Kctd16 (MGI:1914659)
chr5	145100001	150400000	5q32		131440	EMP	Myeloproliferative disorder, chronic, with eosinophilia				ETV6-PDGFRB fusion gene	Myeloproliferative disorder, chronic, with eosinophilia, 131440 (4), Autosomal dominant	
chr5	145228985	145835342	5q32	5q32	620750	PRELID2	PRELI domain-containing protein 2	PRELID2	153768	ENSG00000186314			Prelid2 (MGI:1924869)
chr5	145857670	145931673	5q32	5q32	615762	GRXCR2, DFNB101	Glutaredoxin, cysteine-rich, 2	GRXCR2	643226	ENSG00000204928	mutation identified in 1 DFNB101 family	?Deafness, autosomal recessive 101, 615837 (3), Autosomal recessive	Grxcr2 (MGI:2685697)
chr5	145936578	146081773	5q32	5q32	613377	SH3RF2, HEPP1	SH3 domain-containing RING finger protein 2	SH3RF2	153769	ENSG00000156463			Sh3rf2 (MGI:2444628)
chr5	146113034	146182650	5q32	5q32	151350	LARS1, LARS, LFIS, ILFS1	Leucyl-tRNA synthetase 1	LARS1	51520	ENSG00000133706	mutation identified in 1 family	?Infantile liver failure syndrome 1, 615438 (3), Autosomal recessive	Lars1 (MGI:1913808)
chr5	146203605	146289223	5q32	5q32	620082	RBM27, KIAA1311, PSC1	RNA-binding motif protein 27	RBM27	54439	ENSG00000091009			Rbm27 (MGI:2147194)
chr5	146338839	146341728	5q31	5q32	602460	POU4F3, BRN3C, DFNA15, DFNA52	POU domain, class 4, transcription factor-3	POU4F3	5459	ENSG00000091010		Deafness, autosomal dominant 15/52, 602459 (3), Autosomal dominant	Pou4f3 (MGI:102523)
chr5	146447330	146511961	5q31	5q32	605409	TCERG1, TAF2S, CA150	Transcription elongation regulator 1 (transcription factor CA150)	TCERG1	10915	ENSG00000113649			Tcerg1 (MGI:1926421)
chr5	146513144	146516190	5q32	5q32	618487	GPR151, GALRL, GALR4	G protein -coupled receptor 151	GPR151	134391	ENSG00000173250			Gpr151 (MGI:2441887)
chr5	146580742	147081520	5q31-q33	5q32	604325	PPP2R2B	Protein phosphatase 2, regulatory subunit B, beta	PPP2R2B	5521	ENSG00000156475		Spinocerebellar ataxia 12, 604326 (3), Autosomal dominant	Ppp2r2b (MGI:1920180)
chr5	147390808	147510068	5q32	5q32	601168	DPYSL3, ULIP, DRP3	Dihydropyrimidinase-like 3	DPYSL3	1809	ENSG00000113657			Dpysl3 (MGI:1349762)
chr5	147585438	147782728	5q32	5q32	611197	JAKMIP2, JAMIP2, NECC1, KIAA0555	Janus kinase and microtubule-interacting protein 2	JAKMIP2	9832	ENSG00000176049			Jakmip2 (MGI:1923467)
chr5	147824582	147839196	5q32	5q32	167790	SPINK1, PSTI, PCTT, TATI, TCP	Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin inhibitor)	SPINK1	6690	ENSG00000164266		Tropical calcific pancreatitis, 608189 (3), Autosomal recessive, Autosomal dominant; Pancreatitis, hereditary, 167800 (3), Autosomal dominant; {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3), Autosomal recessive, Autosomal dominant	Spink1 (MGI:106202)
chr5	147878711	147882191	5q31-q34	5q32	606531	SCGB3A2, UGRP1	Secretoglobin, family 3A, member 2 (uteroglobin-related protein 1)	SCGB3A2	117156	ENSG00000164265		{Asthma, susceptibility to}, 600807 (3), Autosomal dominant	Scgb3a2 (MGI:2153470)
chr5	148063980	148137382	5q32	5q32	605010	SPINK5, LEKTI	Serine protease inhibitor, Kazal type, 5	SPINK5	11005	ENSG00000133710		Netherton syndrome, 256500 (3), Autosomal recessive	Spink5 (MGI:1919682)
chr5	148202778	148215137	5q32	5q32	615868	SPINK6	Serine peptidase inhibitor, KAZAL-type, 6	SPINK6	404203	ENSG00000178172			Spink6 (MGI:3648654)
chr5	148268794	148286255	5q32	5q32	615205	SPINK13	Serine protease inhibitor, Kazal-type, 13	SPINK13	153218	ENSG00000214510			Spink13 (MGI:3642511)
chr5	148312423	148315919	5q32	5q32	617288	SPINK7, ECRG2	Serine peptidase inhibitor, Kazal-type, 7	SPINK7	84651	ENSG00000145879			Spink7 (MGI:3644691)
chr5	148321305	148339852	5q33.1	5q32	613511	SPINK9, LEKTI2	Serine protease inhibitor, Kazal-type, 9	SPINK9	643394	ENSG00000204909			
chr5	148383958	148442836	5q33.1	5q32	608533	FBXO38, FBX38, MOKA, HMND6	F-box only protein 38	FBXO38	81545	ENSG00000145868		Neuronopathy, distal hereditary motor, autosomal dominant 6, 615575 (3), Autosomal dominant	Fbxo38 (MGI:2444639)
chr5	148451032	148654527	5q31-q33	5q32	602164	HTR4	5-hydroxytryptamine (serotonin) receptor-4	HTR4	3360	ENSG00000164270			Htr4 (MGI:109246)
chr5	148826611	148828623	5q32-q34	5q32	109690	ADRB2	Adrenergic, beta-2-, receptor, surface	ADRB2	154	ENSG00000169252		Beta-2-adrenoreceptor agonist, reduced response to (3)	Adrb2 (MGI:87938)
chr5	148982150	149063062	5q32	5q32	608206	SH3TC2, KIAA1985, MNMN	SH3 domain and tetratricopeptide repeat domain 2	SH3TC2	79628	ENSG00000169247		Charcot-Marie-Tooth disease, type 4C, 601596 (3), Autosomal recessive; Mononeuropathy of the median nerve, mild, 613353 (3), Autosomal dominant	Sh3tc2 (MGI:2444417)
chr5	149141493	149260542	5q32	5q32	611305	ABLIM3, KIAA0843	Actin-binding LIM protein family, member 3	ABLIM3	22885	ENSG00000173210			Ablim3 (MGI:2442582)
chr5	149271859	149343637	5q33.1	5q32	614410	AFAP1L1	Actin filament-associated protein 1-like 1	AFAP1L1	134265	ENSG00000157510			Afap1l1 (MGI:2147199)
chr5	149345499	149354583	5q32	5q32	618545	GRPEL2	GrpE-like 2, mitochondrial	GRPEL2	134266	ENSG00000164284			Grpel2 (MGI:1334416)
chr5	149374267	149404202	5q32-q34	5q32	604627	IL17B	Interleukin 17B	IL17B	27190	ENSG00000127743			Il17b (MGI:1928397)
chr5	149428918	149429023	5q33.1	5q32	612117	MIR143, MIRN143	Micro RNA 143	MIR143	406935	ENSG00000284182			Mir143 (MGI:2676828)
chr5	149430646	149430733	5q33.1	5q32	611795	MIR145, MIRN145	Micro RNA 145	MIR145	406937	ENSG00000276365			Mir145a (MGI:2676830)
chr5	149492982	149551439	5q32	5q32	600505	CSNK1A1	Casein kinase-1, alpha-1 polypeptide	CSNK1A1	1452	ENSG00000113712	previously assigned to 13q13		Csnk1a1 (MGI:1934950)
chr5	149551625	149634968	5q32	5q32	620664	ARHGEF37	Rho guanine nucleotide exchange factor 37	ARHGEF37	389337	ENSG00000183111			Arhgef37 (MGI:3045339)
chr5	149730310	149857959	5q33	5q32	608886	PPARGC1B, PGC1B, PERC	Peroxisome proliferator-activated receptor-gamma, coactivator 1, beta	PPARGC1B	133522	ENSG00000155846			Ppargc1b (MGI:2444934)
chr5	149732825	149732890	5q33.1	5q32	611957	MIR378, MIRN378	Micro RNA 378	MIR378A	494327	ENSG00000199047			Mir378a (MGI:3617791)
chr5	149857953	149944793	5q31.2-q34	5q32	180071	PDE6A, PDEA, RP43	Phosphodiesterase 6A	PDE6A	5145	ENSG00000132915		Retinitis pigmentosa 43, 613810 (3), Autosomal recessive	Pde6a (MGI:97524)
chr5	149960758	149987400	5q32-q33.1	5q32	606718	SLC26A2, DTD, DTDST, D5S1708, EDM4	Solute carrier family 26 (sulfate transporter), member 2 (diastrophic dysplasia sulfate transporter)	SLC26A2	1836	ENSG00000155850	distal to APC	Epiphyseal dysplasia, multiple, 4, 226900 (3), Autosomal recessive; De la Chapelle dysplasia, 256050 (3), Autosomal recessive; Diastrophic dysplasia, 222600 (3), Autosomal recessive; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3), Autosomal recessive; Achondrogenesis Ib, 600972 (3), Autosomal recessive; Atelosteogenesis, type II, 256050 (3), Autosomal recessive	Slc26a2 (MGI:892977)
chr5	150000739	150053128	5q32	5q32	619800	HMGXB3, KIAA0194	HMG box-containing protein 3	HMGXB3	22993	ENSG00000113716			Hmgxb3 (MGI:2441817)
chr5	150021531	150022050	5q33-qter	5q32	180464	RPS20B	Ribosomal protein S20B	RPS20P4	6226		?pseudogene		
chr5	150053295	150113365	5q32	5q32	164770	CSF1R, FMS, HDLS1, BANDDOS	Colony-stimulating factor-1 receptor; oncogene FMS (McDonough feline sarcoma)	CSF1R	1436	ENSG00000182578	FMS2 is 5' end	Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 (3), Autosomal recessive; Leukoencephalopathy, diffuse hereditary, with spheroids 1, 221820 (3), Autosomal dominant	Csf1r (MGI:1339758)
chr5	150113839	150155845	5q32	5q32	173410	PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS, OPDKD	Platelet-derived growth factor receptor, beta polypeptide	PDGFRB	5159	ENSG00000113721	mutation identified in 1 OPDKD family	Premature aging syndrome, Penttinen type, 601812 (3), Autosomal dominant; ?Ocular pterygium-digital keloid dysplasia syndrome, 621091 (3), Autosomal dominant; Kosaki overgrowth syndrome, 616592 (3), Autosomal dominant; Myofibromatosis, infantile, 1, 228550 (3), Autosomal dominant; Basal ganglia calcification, idiopathic, 4, 615007 (3), Autosomal dominant	Pdgfrb (MGI:97531)
chr5	150166778	150184558	5q31-q33	5q32	600746	CDX1	Caudal type homeobox transcription factor 1	CDX1	1044	ENSG00000113722	100kb distal to CSF1R		Cdx1 (MGI:88360)
chr5	150190062	150211063	5q31-q32	5q32	606205	SLC6A7, PROT	Solute carrier family 6 (neurotransmitter transporter, L-proline), member 7	SLC6A7	6534	ENSG00000011083			Slc6a7 (MGI:2147363)
chr5	150219491	150290130	5q32	5q32	114078	CAMK2A, KIAA0968, CAMKA, MRD53, MRT63	Calcium/calmodulin-dependent protein kinase II-alpha	CAMK2A	815	ENSG00000070808	mutation identified in 1 MRT63 family	Intellectual developmental disorder, autosomal dominant 53, 617798 (3), Autosomal dominant; ?Intellectual developmental disorder, autosomal recessive 63, 618095 (3), Autosomal recessive	Camk2a (MGI:88256)
chr5	150296343	150302905	5q32	5q32	610009	ARSI	Arylsulfatase I	ARSI	340075	ENSG00000183876			Arsi (MGI:2670959)
chr5	150357697	150400293	5q32-q33.1	5q32-q33.1	606847	TCOF1, MFD1, TCS1	Treacle	TCOF1	6949	ENSG00000070814	prox. to SPARC	Treacher Collins syndrome 1, 154500 (3), Autosomal dominant	Tcof1 (MGI:892003)
chr5	150400001	177100000	5q33.1-q35.2		613269	FECD5, FCD3	Corneal dystrophy, Fuchs endothelial, 5		100380874		flanked by D5S470 and D5S2108	Corneal dystrophy, Fuchs endothelial, 5, 613269 (2)	
chr5	150401639	150412910	5q32	5q33.1	142790	CD74, DHLAG	CD74 antigen (invariant polypeptide of major histocompatibility class II antigen-associated)	CD74	972	ENSG00000019582			Cd74 (MGI:96534)
chr5	150442635	150449739	5q32	5q33.1	130620	RPS14, EMTB	Ribosomal protein S14	RPS14	6208	ENSG00000164587		Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)	Rps14 (MGI:98107)
chr5	150497779	150558211	5q32-q33.3	5q33.1	600853	NDST1, HSST, MRT46	N-deacetylase/N-sulfotransferase (heparan sulfate-N-deacetylase/N-sulfotransferase)	NDST1	3340	ENSG00000070614		Intellectual developmental disorder, autosomal recessive 46, 616116 (3), Autosomal recessive	Ndst1 (MGI:104719)
chr5	150586010	150659207	5q33.1	5q33.1	608155	SYNPO	Synaptopodin	SYNPO	11346	ENSG00000171992			Synpo (MGI:1099446)
chr5	150660869	150679368	5q31	5q33.1	610735	MYOZ3, FRP3	Myozenin 3	MYOZ3	91977	ENSG00000164591			Myoz3 (MGI:2179296)
chr5	150690792	150701062	5q33.1	5q33.1	612430	RBM22	RNA-binding motif protein 22	RBM22	55696	ENSG00000086589			Rbm22 (MGI:1914060)
chr5	150708440	150759017	5q33.1	5q33.1	614758	DCTN4, P62, DYN4	Dynactin 4	DCTN4	51164	ENSG00000132912			Dctn4 (MGI:1914915)
chr5	150778757	150796734	5q32	5q33.1	608324	SMIM3, NID67	Small integral membrane protein 3	SMIM3	85027	ENSG00000256235			Smim3 (MGI:1917088)
chr5	150846521	150902402	5q33.1	5q33.1	608212	IRGM, LRG47, IFI1, IBD19	Immunity-related GTPase family, M	IRGM	345611	ENSG00000237693		{Mycobacterium tuberculosis, protection against}, 607948 (3); {Inflammatory bowel disease (Crohn disease) 19}, 612278 (3)	Igtp,Irgm1,Irgm2 (MGI:107567,MGI:107729,MGI:1926262)
chr5	150894399	150904980	5q33.1	5q33.1	612429	ZNF300	Zinc finger protein 300	ZNF300	91975	ENSG00000145908			Zfp677,Zfp758,Zfp982 (MGI:2385044,MGI:3053207,MGI:3701121)
chr5	151020591	151028988	5q32-q33.1	5q33.1	138321	GPX3	Glutathione peroxidase-3, plasma	GPX3	2878	ENSG00000211445			Gpx3 (MGI:105102)
chr5	151029943	151087685	5q32-q33.1	5q33.1	607714	TNIP1, NAF1, KIAA0113	TNFAIP3-interacting protein 1	TNIP1	10318	ENSG00000145901			Tnip1 (MGI:1926194)
chr5	151100706	151157779	5q32-q34	5q33.1	114070	ANXA6, CBP68	Annexin A6 (calcium-binding protein p68)	ANXA6	309	ENSG00000197043			Anxa6 (MGI:88255)
chr5	151181052	151224092	5q33.1	5q33.1	619288	CCDC69	Coiled-coil domain-containing protein 69	CCDC69	26112	ENSG00000198624			Ccdc69 (MGI:1196234)
chr5	151253185	151270440	5q31.3-q33.1	5q33.1	613109	GM2A	GM2 ganglioside activator protein	GM2A	2760	ENSG00000196743	pseudogene on chr.3	GM2-gangliosidosis, AB variant, 272750 (3), Autosomal recessive	Gm2a (MGI:95762)
chr5	151276358	151303766	5q33.1	5q33.1	608332	SLC36A3, PAT3	Solute carrier family 36 (proton/amino acid symporter), member 3	SLC36A3	285641	ENSG00000186334			Slc36a3 (MGI:2665001)
chr5	151314972	151347559	5q33.1	5q33.1	608331	SLC36A2, PAT2	Solute carrier family 36 (proton/amino acid symporter), member 2	SLC36A2	153201	ENSG00000186335		[Iminoglycinuria], 242600 (3), Digenic recessive, Autosomal recessive; [Hyperglycinuria], 138500 (3), Autosomal dominant	Slc36a2 (MGI:1891430)
chr5	151344596	151556085	5q31-q33	5q33.1	606561	SLC36A1, LYAAT1, PAT1	Solute carrier family 36 (proton/amino acid symporter), member 1 (lysosomal amino acid transporter 1)	SLC36A1	206358	ENSG00000123643			Slc36a1 (MGI:2445299)
chr5	151504092	151594819	5q32-q33	5q33.1	604269	FAT2, MEGF1, SCA45	FAT atypical cadherin 2	FAT2	2196	ENSG00000086570		Spinocerebellar ataxia 45, 617769 (3), Autosomal dominant	Fat2 (MGI:2685369)
chr5	151661096	151686915	5q31.3-q32	5q33.1	182120	SPARC, ON, OI17	Osteonectin (secreted protein, acidic, cysteine-rich)	SPARC	6678	ENSG00000113140		Osteogenesis imperfecta, type XVII, 616507 (3), Autosomal recessive	Sparc (MGI:98373)
chr5	151742822	151758631	5q32	5q33.1	602270	ATOX1, HAH1	Antioxidant protein 1 (ATX, yeast, homolog of)	ATOX1	475	ENSG00000177556			Atox1 (MGI:1333855)
chr5	151771954	151812785	5q33.1	5q33.1	608431	G3BP1, G3BP	G3BP stress granule assembly factor 1	G3BP1	10146	ENSG00000145907			G3bp1 (MGI:1351465)
chr5	151822513	151924851	5q32	5q33.1	138491	GLRA1, STHE, HKPX1	Glycine receptor, alpha-1 polypeptide	GLRA1	2741	ENSG00000145888		Hyperekplexia 1, 149400 (3), Autosomal recessive, Autosomal dominant	Glra1 (MGI:95747)
chr5	152391546	152405279	5q33.1	5q33.1	605108	NMUR2, NMU2R, FM4	Neuromedin U receptor 2	NMUR2	56923	ENSG00000132911			Nmur2 (MGI:2441765)
chr5	153489615	153813869	5q33	5q33.2	138248	GRIA1, GLUR1, MRD67, MRT76	Glutamate receptor, ionotropic, AMPA 1	GRIA1	2890	ENSG00000155511	mutation identified in 1 MRT76 patient	?Intellectual developmental disorder, autosomal recessive 76, 619931 (3), Autosomal recessive; Intellectual developmental disorder, autosomal dominant 67, 619927 (3), Autosomal dominant	Gria1 (MGI:95808)
chr5	154038967	154057450	5q32-q33.3	5q33.2	600491	MFAP3	Microfibrillar-associated protein-3	MFAP3	4238	ENSG00000037749			Mfap3 (MGI:1924068)
chr5	154190733	154420984	5q33.2	5q33.2	608043	GALNT10, GalNAcT10	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10	GALNT10	55568	ENSG00000164574			Galnt10 (MGI:1890480)
chr5	154445997	154461053	5q33.2	5q33.2	610398	SAP30L	SAP30-like protein	SAP30L	79685	ENSG00000164576			Sap30l (MGI:1354709)
chr5	154474972	154478227	5q33.2	5q33.2	602406	HAND1, EHAND	Heart- and neural crest derivatives-expressed 1	HAND1	9421	ENSG00000113196			Hand1 (MGI:103577)
chr5	154682979	154817605	5q33.2	5q33.2	612059	LARP1, LARP, KIAA0731	La ribonucleoprotein 1, translational regulator	LARP1	23367	ENSG00000155506	incorrectly mapped to chromosome 10		Larp1 (MGI:1890165)
chr5	154818492	154850603	5q33.2	5q33.2	619853	FAXDC2	Fatty acid hydroxylase domain-containing protein 2	FAXDC2	10826	ENSG00000170271			Faxdc2 (MGI:3651124)
chr5	154858249	154876792	5q31-q33	5q33.2	603731	CNOT8, CALIF, POP2	CCR4-NOT transcription complex, subunit 8	CNOT8	9337	ENSG00000155508			Cnot8 (MGI:1916375)
chr5	154887411	154938211	5q33.2	5q33.2	607005	GEMIN5, NEDCAM	GEM-associated protein 5	GEMIN5	25929	ENSG00000082516		Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, 619333 (3), Autosomal recessive	Gemin5 (MGI:2449311)
chr5	154941073	154969411	5q33	5q33.2	611835	MRPL22	Mitochondrial ribosomal protein L22	MRPL22	29093	ENSG00000082515			Mrpl22 (MGI:1333794)
chr5	155013755	155018141	5q33.1	5q33.2	609184	KIF4B	Kinesin family member 4B	KIF4B	285643	ENSG00000226650			Kif4 (MGI:108389)
chr5	155727832	156767788	5q33	5q33.2-q33.3	601411	SGCD, SGD, LGMDR6, CMD1L	Sarcoglycan, delta (35kD dystrophin-associated glycoprotein)	SGCD	6444	ENSG00000170624	mutant in Syrian hamster cardiomyopathy	Cardiomyopathy, dilated, 1L, 606685 (3); Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3), Autosomal recessive	Sgcd (MGI:1346525)
chr5	156919292	156963226	5q33.2	5q33.3	610096	TIMED4, TIM4, SMUCKLER	T-cell immunoglobulin and mucin domains-containing protein 4	TIMD4	91937	ENSG00000145850			Timd4 (MGI:2445125)
chr5	157029413	157069407	5q33.2	5q33.3	606518	HAVCR1, HAVCR	Hepatitis A virus cellular receptor 1	HAVCR1	26762	ENSG00000113249			Havcr1,Timd2,Timd5,Timd6 (MGI:2159680,MGI:2159681,MGI:3039605,MGI:3650838)
chr5	157085832	157109044	5q33.2	5q33.3	606652	HAVCR2, TIM3, SPTCL	Hepatitis A virus cellular receptor 2	HAVCR2	84868	ENSG00000135077		T-cell lymphoma, subcutaneous panniculitis-like, 618398 (3), Autosomal recessive	Havcr2 (MGI:2159682)
chr5	157137424	157142865	5q33.3	5q33.3	605045	MED7, CRSP9, CRSP33	Mediator complex subunit 7	MED7	9443	ENSG00000155868			Med7 (MGI:1913463)
chr5	157161846	157166264	5q33.3	5q33.3	619883	GARIN3, FAM71B	Golgi-associated RAB2B interactor family, member 3	GARIN3	153745	ENSG00000170613			Garin3 (MGI:3650836)
chr5	157180840	157255185	5q32	5q33.3	186973	ITK, EMT, LPFS1	T-cell-specific tyrosine kinase; homolog of mouse T-cell itk/tsk tyrosine kinase	ITK	3702	ENSG00000113263		Lymphoproliferative syndrome 1, 613011 (3), Autosomal recessive	Itk (MGI:96621)
chr5	157266123	157395594	5q33.3	5q33.3	606323	CYFIP2, DEE65	Cytoplasmic FMRP interacting protein 2	CYFIP2	26999	ENSG00000055163		Developmental and epileptic encephalopathy 65, 618008 (3), Autosomal dominant	Cyfip2 (MGI:1924134)
chr5	157460213	157474722	5q33	5q33.3	609383	NIPAL4, ICHYN, ARCI6	NIPA-like domain-containing 4	NIPAL4	348938	ENSG00000172548		Ichthyosis, congenital, autosomal recessive 6, 612281 (3), Autosomal recessive	Nipal4 (MGI:2444671)
chr5	157477304	157575775	5q32-q33	5q33.3	603640	ADAM19, MLTNB	ADAM metallopeptidase domain 19	ADAM19	8728	ENSG00000135074			Adam19 (MGI:105377)
chr5	157625679	157671480	5q33.3	5q33.3	606698	SOX30	SRY-box 30	SOX30	11063	ENSG00000039600			Sox30 (MGI:1341157)
chr5	157731420	157741449	5q33.3	5q33.3	618802	THG1L, THG1, ICF45, IHG1, SCAR28	tRNA-histidine guanylyltransferase 1-like protein	THG1L	54974	ENSG00000113272		Spinocerebellar ataxia, autosomal recessive 28, 618800 (3), Autosomal recessive	Thg1l (MGI:1913878)
chr5	157743712	157760709	5q33.3	5q33.3	617910	LSM11, AGS8	Lsm11, U7 small nuclear RNA-associated protein	LSM11	134353	ENSG00000155858	mutation identified in 1 AGS8 family	?Aicardi-Goutieres syndrome 8, 619486 (3), Autosomal recessive	Lsm11 (MGI:1919540)
chr5	157785747	157859145	5q33.3	5q33.3	607265	CLINT1, EPN4, EPNR, KIAA0171	Clathrin interactor 1 (epsin 4)	CLINT1	9685	ENSG00000113282			Clint1 (MGI:2144243)
chr5	158695920	159099916	5q34	5q33.3	164343	EBF, OLF1	Early B-cell factor (olfactory neuronal transcription factor 1)	EBF1	1879	ENSG00000164330			Ebf1 (MGI:95275)
chr5	159157409	159210053	5q33.3	5q33.3	620640	RNF145	RING finger protein 145	RNF145	153830	ENSG00000145860			Rnf145 (MGI:1921565)
chr5	159263290	159286036	5q33.3	5q33.3	609867	UBLCP1	Ubiquitin-like domain-containing CTD phosphatase 1	UBLCP1	134510	ENSG00000164332			Ublcp1 (MGI:1933105)
chr5	159314780	159330487	5q33.3	5q33.3	161561	IL12B, NKSF2, IMD29	Interleukin-12B (natural killer cell stimulatory factor-2, cytotoxic lymphocyte maturation factor-2, p40)	IL12B	3593	ENSG00000113302	between GLR1 and GABRA1	Immunodeficiency 29, mycobacteriosis, 614890 (3), Autosomal recessive	Il12b (MGI:96540)
chr5	159865086	159989205	5q33	5q33.3	104220	ADRA1B	Adrenergic, alpha-1B-, receptor	ADRA1B	147	ENSG00000170214			Adra1b (MGI:104774)
chr5	160009139	160065543	5q32-q33.2	5q33.3	601963	TTC1, TPR1	Tetratricopeptide repeat domain-1	TTC1	7265	ENSG00000113312			Ttc1 (MGI:1914077)
chr5	160044316	160119450	5q33.3	5q33.3	617823	PWWP2A	PWWP domain-containing protein 2A	PWWP2A	114825	ENSG00000170234			Pwwp2a (MGI:1918052)
chr5	160187381	160238722	5q23-q35	5q33.3	600422	FABP6, ILLBP	Fatty acid-binding protein 6, ileal (gastrotropin)	FABP6	2172	ENSG00000170231			Fabp6 (MGI:96565)
chr5	160347754	160370626	5q33.3	5q33.3	618647	C1QTNF2, CTRP2	C1q- and TNF-related protein 2	C1QTNF2	114898	ENSG00000145861			C1qtnf2 (MGI:1916433)
chr5	160393148	160400054	5q33.3	5q33.3	615253	ZBED8, C5orf54, BUSTER3	Zinc finger BED-type containing 8	FAM200C	63920	ENSG00000221886			
chr5	160401641	160419081	5q33.3	5q33.3	605974	SLU7	SLU7 homolog, splicing factor	SLU7	10569	ENSG00000164609			Slu7 (MGI:2385598)
chr5	160421855	160428744	5q33	5q33.3	604147	PTTG1, EAP1, TUTR1	PITG1 regulator of sister chromatid separation, securin	PTTG1	9232	ENSG00000164611			Pttg1 (MGI:1353578)
chr5	160485352	160485450	5q33.3	5q33.3	610566	MIR146A, MIRN146A	Micro RNA 146A	MIR146A	406938	ENSG00000283733			Mir146 (MGI:2676831)
chr5	160500001	177100000	5q34-q35.2		608036	NIDDM4	Diabetes mellitus, noninsulin-dependent, 4		100188782			{Diabetes mellitus, noninsulin-dependent}, 125853 (2), Autosomal dominant	
chr5	160563120	160929360	5q34	5q34	619791	ATP10B, KIAA0715	ATPase, phospholipid-transporting, 10B	ATP10B	23120	ENSG00000118322			Atp10b (MGI:2442688)
chr5	161288436	161548404	5q34-q35	5q34	600232	GABRB2, DEE92	Gamma-aminobutyric acid (GABA) A receptor, beta-2	GABRB2	2561	ENSG00000145864		Developmental and epileptic encephalopathy 92, 617829 (3), Autosomal dominant	Gabrb2 (MGI:95620)
chr5	161685721	161702592	5q31.1-q35	5q34	137143	GABRA6	Gamma-aminobutyric acid (GABA) A receptor, alpha-6	GABRA6	2559	ENSG00000145863			Gabra6 (MGI:95618)
chr5	161847191	161899971	5q34-q35	5q34	137160	GABRA1, EJM5, ECA4, DEE19	Gamma-aminobutyric acid (GABA) A receptor, alpha-1	GABRA1	2554	ENSG00000022355	in same 200kb as GABRG2	{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3); Developmental and epileptic encephalopathy 19, 615744 (3), Autosomal dominant; {Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3)	Gabra1 (MGI:95613)
chr5	162067465	162155539	5q34	5q34	137164	GABRG2, DEE74, FEB8, ECA2, GEFSP3	Gamma-aminobutyric acid (GABA) A receptor, gamma-2	GABRG2	2566	ENSG00000113327	in alpha/beta/gamma cluster	Developmental and epileptic encephalopathy 74, 618396 (3), Autosomal dominant; Febrile seizures, familial, 8, 607681 (3), Autosomal dominant; Generalized epilepsy with febrile seizures plus, type 3, 607681 (3), Autosomal dominant	Gabrg2 (MGI:95623)
chr5	163437571	163457640	5q32-q34	5q34	601578	CCNG1	Cyclin G1	CCNG1	900	ENSG00000113328			Ccng1 (MGI:102890)
chr5	163446526	163460102	5q34	5q34	620136	NUDCD2, NUDCL2	NUDC domain-containing protein 2	NUDCD2	134492	ENSG00000170584			Nudcd2 (MGI:1277103)
chr5	163460632	163491941	5q33.2	5q34	600936	HMMR	Hyaluronan-mediated motility receptor (RHAMM)	HMMR	3161	ENSG00000072571		{Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant	Hmmr (MGI:104667)
chr5	163503064	163519354	5q34	5q34	605527	MAT2B	Methionine adenosyltransferase II, beta	MAT2B	27430	ENSG00000038274			Mat2b (MGI:1913667)
chr5	166979029	168264157	5q34	5q34	610119	TENM2, ODZ2, TNM2, KIAA1127	Teneurin transmembrane protein 2	TENM2	57451	ENSG00000145934			Tenm2 (MGI:1345184)
chr5	168291645	168472303	5q34-q35.2	5q34	610533	WWC1, KIBRA, KIAA0869, MEMRYQTL	WW and C2 domains-containing protein 1	WWC1	23286	ENSG00000113645		[Memory, enhanced, QTL], 615602 (3)	Wwc1 (MGI:2388637)
chr5	168486471	168519301	5q34	5q34	107820	RARS1, RARS, HLD9	Arginyl-tRNA synthetase 1	RARS1	5917	ENSG00000113643		Leukodystrophy, hypomyelinating, 9, 616140 (3), Autosomal recessive	Rars1 (MGI:1914297)
chr5	168548495	168579368	5q35	5q34	606161	PANK3	Pantothenate kinase 3	PANK3	79646	ENSG00000120137			Pank3 (MGI:2387464)
chr5	168560896	168560973	5q34	5q34	613187	MIR103-1, MIRN103-1	Micro RNA 103-1	MIR103A1	406895	ENSG00000199035			Mir103-1 (MGI:3619058)
chr5	168661740	169301139	5q35	5q34-q35.1	603745	SLIT3, SLIL2, MEGF5	SLIT guidance ligand 3	SLIT3	6586	ENSG00000184347			Slit3 (MGI:1315202)
chr5	168768146	168768255	5q34	5q34	616771	MIR218-2	Micro RNA 218-2	MIR218-2	407001	ENSG00000207739	in intron of SLIT3		Mir218-2 (MGI:3618752)
chr5	169000001	181538259	5q35		118840	CHR	Chromate resistance (sulfate transport)						
chr5	169583773	169604778	5q35.1	5q35.1	616401	SPDL1, CCDC99, SPINDLY	Spindly apparatus coiled-coil protein 1	SPDL1	54908	ENSG00000040275			Spdl1 (MGI:1917635)
chr5	169637275	170083382	5q35.1	5q35.1	603122	DOCK2, IMD40	Dedicator of cytokinesis 2	DOCK2	1794	ENSG00000134516		Immunodeficiency 40, 616433 (3), Autosomal recessive	Dock2 (MGI:2149010)
chr5	170105897	170109737	5q34	5q35.1	601093	FOXI1, FKHL10, FREAC6	Forkhead box I1	FOXI1	2299	ENSG00000168269	some patients have digenic mutations with SLC26A4	Enlarged vestibular aqueduct, 600791 (3), Autosomal recessive	Foxi1 (MGI:1096329)
chr5	170246233	170297777	5q33.1-qter	5q35.1	601603	LCP2, SLP76, IMD81	Lymphocyte cytosolic protein-2 (SH2 domain-containing leukocyte protein of 76kD)	LCP2	3937	ENSG00000043462		Immunodeficiency 81, 619374 (3), Autosomal recessive	Lcp2 (MGI:1321402)
chr5	170353487	170736632	5q35.1	5q35.1	604660	KCNIP1, KCHIP1	Potassium channel-interacting protein 1	KCNIP1	30820	ENSG00000182132			Kcnip1 (MGI:1917607)
chr5	170374671	170389367	5q34	5q35.1	603951	KCNMB1	Potassium large conductance calcium-activated channel, subfamily M, beta member 1	KCNMB1	3779	ENSG00000145936		{Hypertension, diastolic, resistance to}, 608622 (3), Autosomal dominant	Kcnmb1 (MGI:1334203)
chr5	170782720	170814047	5q32-q33	5q35.1	602729	GABRP	Gamma-aminobutyric acid receptor, pi	GABRP	2568	ENSG00000094755			Gabrp (MGI:2387597)
chr5	170862018	171300015	5q34	5q35.1	606141	RANBP17	RAN-binding protein 17	RANBP17	64901	ENSG00000204764			Ranbp17 (MGI:1929706)
chr5	171309248	171312139	5q35.1	5q35.1	604640	TLX3, HOX11L2, RNX	T-cell leukemia, homeobox 3	TLX3	30012	ENSG00000164438	activated in T-cell ALL		Tlx3 (MGI:1351209)
chr5	171387116	171410900	5q35	5q35.1	164040	NPM1	Nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin)	NPM1	4869	ENSG00000181163	fused with RARA in APL	Leukemia, acute myeloid, somatic, 601626 (3)	Npm1 (MGI:106184)
chr5	171419647	171457626	5q34	5q35.1	603726	FGF18	Fibroblast growth factor-18	FGF18	8817	ENSG00000156427			Fgf18 (MGI:1277980)
chr5	171861549	172006638	5q35.1	5q35.1	605651	FBXW11, FBXW1B, BTRC2, BTRCP2, NEDJED	F-box and WD40 domain protein 11	FBXW11	23291	ENSG00000072803		Neurodevelopmental, jaw, eye, and digital syndrome, 618914 (3), Autosomal dominant	Fbxw11 (MGI:2144023)
chr5	172042079	172188224	5q35.1	5q35.1	603919	STK10, LOK	Serine/threonine protein kinase-10	STK10	6793	ENSG00000072786			Stk10 (MGI:1099439)
chr5	172194172	172203454	5q35.1	5q35.1	618520	EFCAB9	EF-hand calcium-binding domain 9	EFCAB9	285588	ENSG00000214360			Efcab9 (MGI:1916556)
chr5	172209646	172284117	5q35	5q35.1	610174	UBTD2, DCUBP, MGC30022	Ubiquitin domain-containing protein 2	UBTD2	92181	ENSG00000168246			Ubtd2 (MGI:2444752)
chr5	172325181	172454525	5q35.1	5q35.1	613293	SH3PXD2B, TKS4, KIAA1295, FTHS	SH3 and PX domains-containing protein 2B	SH3PXD2B	285590	ENSG00000174705		Frank-ter Haar syndrome, 249420 (3), Autosomal recessive	Sh3pxd2b (MGI:2442062)
chr5	172641263	172691540	5q31	5q35.1	615893	NEURL1B, NEUR2	Neuralized E3 ubiquitin protein ligase 1B	NEURL1B	54492	ENSG00000214357			Neurl1b (MGI:3643092)
chr5	172768096	172771195	5q34	5q35.1	600714	DUSP1, CL100, PTPN10	Dual specificity phosphatase-1	DUSP1	1843	ENSG00000120129			Dusp1 (MGI:105120)
chr5	172834251	172952683	5q35.2	5q35.1	617946	ERGIC1, ERGIC32, KIAA1181, AMC2	Endoplasmic reticulum-golgi intermediate compartment protein 1	ERGIC1	57222	ENSG00000113719	mutation identified in 1 AMCN family	?Arthrogryposis multiplex congenita 2, neurogenic type, 208100 (3), Autosomal recessive	Ergic1 (MGI:1914708)
chr5	172983771	173035445	5q35.1	5q35.1	603931	ATP6V0E1, ATP6H	ATPase, H+ transporting, V0 subunit E1	ATP6V0E1	8992	ENSG00000113732	previously mapped to Chr.2		Atp6v0e (MGI:1328318)
chr5	173020726	173020929	5q35.1	5q35.1	611331	SNORA74B	Small nucleolar RNA, H/ACA box, 74B	SNORA74B	677841	ENSG00000212402	in intron 3 of ATP6V0E1		
chr5	173056352	173139284	5q35.1	5q35.1	617109	CREBRF, LRF, C5orf41	CREB3 recruitment factor	CREBRF	153222	ENSG00000164463			Crebrf (MGI:1924378)
chr5	173144531	173164387	5q35.1	5q35.1	603291	BNIP1, NIP1	BCL2/adenovirus E1B 19kD protein-interacting protein 1	BNIP1	662	ENSG00000113734			Bnip1 (MGI:109328)
chr5	173232109	173235206	5q34	5q35.1	600584	NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2	NK2 homeobox-5 gene	NKX2-5	1482	ENSG00000183072	near border with 5q35	Hypoplastic left heart syndrome 2, 614435 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant; Hypothyroidism, congenital nongoitrous, 5, 225250 (3), Autosomal dominant; Conotruncal heart malformations, variable, 217095 (3); Ventricular septal defect 3, 614432 (3), Autosomal dominant; Atrial septal defect 7, with or without AV conduction defects, 108900 (3), Autosomal dominant	Nkx2-5 (MGI:97350)
chr5	173300001	177100000	5q35.2		612886	MENOQ4	Menopause, natural, age at, QTL4		100302519		associated with rs365132, rs7718874, rs402511, rs691141, rs2278493	{Menopause, natural, age at, QTL4}, 612886 (2)	
chr5	173314723	173328414	5q35.1	5q35.2	603665	STC2, STCRP	Stanniocalcin 2	STC2	8614	ENSG00000113739			Stc2 (MGI:1316731)
chr5	173607145	173616650	5q35.2	5q35.2	616745	BOD1, FAM44B	Biorientation of chromosomes in cell division 1	BOD1	91272	ENSG00000145919			Bod1 (MGI:1916806)
chr5	173888349	173961980	5q21	5q35.2	610607	CPEB4, KIAA1673	Cytoplasmic polyadenylation element-binding protein 4	CPEB4	80315	ENSG00000113742			Cpeb4 (MGI:1914829)
chr5	173989170	174009548	5q35.2	5q35.2	620002	C5orf47	Chromsome 5 open reading frame 47	C5orf47	133491	ENSG00000185056			4930524B15Rik (MGI:1914842)
chr5	174045706	174109179	5q35.2	5q35.2	616752	NSG2, HMP19	Neuronal vesicle trafficking-associated protein 2	NSG2	51617	ENSG00000170091			Nsg2 (MGI:1202070)
chr5	174724582	174730896	5q34-q35	5q35.2	123101	MSX2, CRS2, HOX8	msh homeobox 2	MSX2	4488	ENSG00000120149		Parietal foramina with cleidocranial dysplasia, 168550 (3), Autosomal dominant; Craniosynostosis 2, 604757 (3), Autosomal dominant; Parietal foramina 1, 168500 (3), Autosomal dominant	Msx2 (MGI:97169)
chr5	175440036	175444182	5q35.1	5q35.2	126449	DRD1	Dopamine receptor D1	DRD1	1812	ENSG00000184845	same 300kb fragment as GRL		Drd1 (MGI:99578)
chr5	175478560	175529742	5q35.2	5q35.2	615569	SFXN1	Sideroflexin 1	SFXN1	94081	ENSG00000164466			Sfxn1 (MGI:2137677)
chr5	175658071	175710756	5q35.2	5q35.2	142703	HRH2	Histamine receptor H2	HRH2	3274	ENSG00000113749			Hrh2 (MGI:108482)
chr5	175796533	175884021	5q35.2	5q35.2	605033	CPLX2, CPX2	Complexin 2	CPLX2	10814	ENSG00000145920			Cplx2 (MGI:104726)
chr5	175959531	175968315	5q35.2	5q35.2	606929	THOC3, TEX1	THO complex 3 (Tex1, yeast, homolog of)	THOC3	84321	ENSG00000051596			Thoc3 (MGI:1920916)
chr5	176238424	176345989	5q35.2	5q35.2	618102	SIMC1, PLEIAD	SUMO-interacting motifs-containing protein 1	SIMC1	375484	ENSG00000170085			Simc1 (MGI:2442599)
chr5	176383946	176388598	5q35.2	5q35.2	612861	NOP16, HSPC111	Nop16 nucleolar protein	NOP16	51491	ENSG00000048162			Nop16 (MGI:107862)
chr5	176388751	176389761	5q35.2	5q35.2	620788	HIGD2A, HIG2A, RCF1B	HIG1 hypoxia-inducible domain family, member 2A	HIGD2A	192286	ENSG00000146066			Higd2a (MGI:1914294)
chr5	176392455	176416569	5q35.2	5q35.2	118970	CLTB	Clathrin, light polypeptide (Lcb)	CLTB	1212	ENSG00000175416	previously mapped to chr. 4		Cltb (MGI:1921575)
chr5	176448385	176510074	5q35.2	5q35.2	616935	FAF2, ETEA, UBXD8, KIAA0887	Fas-associated factor family, member 2	FAF2	23197	ENSG00000113194			Faf2 (MGI:1923827)
chr5	176526712	176543513	5q35.2	5q35.2	619283	RNF44, KIAA1100	RING finger protein 44	RNF44	22838	ENSG00000146083			Rnf44 (MGI:2145310)
chr5	176542511	176595974	5q35.2	5q35.2	619713	CDHR2, PCDH24, PCLCK	Cadherin-related family, member 2	CDHR2	54825	ENSG00000074276			Cdhr2 (MGI:2687323)
chr5	176595802	176610156	5q35.2	5q35.2	611239	GPRIN1, GRIN1, KIAA1893	GPRIN family, member 1	GPRIN1	114787	ENSG00000169258			Gprin1 (MGI:1349455)
chr5	176620082	176630534	5q35	5q35.2	602569	SNCB	Synuclein, beta	SNCB	6620	ENSG00000074317		Dementia, Lewy body, 127750 (3), Autosomal dominant	Sncb (MGI:1889011)
chr5	176647484	176659051	5q35.2	5q35.2	620446	TSPAN17, FBXO23, FBX23	Tetraspanin 17	TSPAN17	26262	ENSG00000048140			Tspan17 (MGI:1921507)
chr5	176810559	176880898	5q35.2	5q35.2	607869	UNC5A, UNC5H1	unc-5 netrin receptor A	UNC5A	90249	ENSG00000113763			Unc5a (MGI:894682)
chr5	176880869	176899346	5q35.2	5q35.2	142570	HK3	Hexokinase-3, white cell	HK3	3101	ENSG00000160883			Hk3 (MGI:2670962)
chr5	176905005	177022602	5q35	5q35.2	609433	UIMC1, RAP80	Ubiquitin interaction motif containing 1	UIMC1	51720	ENSG00000087206			Uimc1 (MGI:103185)
chr5	177022696	177081189	5q35.2	5q35.2	605308	ZNF346, JAZ	Zinc finger protein 346	ZNF346	23567	ENSG00000113761			Zfp346 (MGI:1349417)
chr5	177086915	177098144	5q35.1-qter	5q35.2	134935	FGFR4	Fibroblast growth factor receptor-4	FGFR4	2264	ENSG00000160867	distal to DRD1	{Cancer progression/metastasis} (3)	Fgfr4 (MGI:95525)
chr5	177131798	177300213	5q35	5q35.3	606681	NSD1, ARA267, STO, SOTOS	Nuclear receptor binding SET domain protein 1	NSD1	64324	ENSG00000165671	fusion gene with NUP98 in AML	Sotos syndrome, 117550 (3), Autosomal dominant	Nsd1 (MGI:1276545)
chr5	177301198	177303719	5q35.3	5q35.3	612415	RAB24	Ras-associated protein 24	RAB24	53917	ENSG00000169228			Rab24 (MGI:105065)
chr5	177303799	177306949	5q35.3	5q35.3	605733	PRELID1, PRELI, PX19	PRELI domain-containing protein 1	PRELID1	27166	ENSG00000169230			Prelid1 (MGI:1913744)
chr5	177305499	177312752	5q35.3	5q35.3	609450	MXD3, MAD3	MAX dimerization protein 3	MXD3	83463	ENSG00000213347			Mxd3 (MGI:104987)
chr5	177331567	177351668	5q35.3	5q35.3	609551	LMAN2, VIP36, GP36B	Lectin, mannose-binding 2	LMAN2	10960	ENSG00000169223			Lman2 (MGI:1914140)
chr5	177357924	177372596	5q35.3	5q35.3	602513	RGS14	Regulator of G protein signaling 14	RGS14	10636	ENSG00000169220			Rgs14 (MGI:1859709)
chr5	177384434	177398848	5q35	5q35.3	182309	SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2	Solute carrier family 34 (sodium phosphate cotransporter), member 1	SLC34A1	6569	ENSG00000131183	mutation identified in 1 FRTS2 family	?Fanconi renotubular syndrome 2, 613388 (3), Autosomal recessive; Hypercalcemia, infantile, 2, 616963 (3), Autosomal recessive; Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3), Autosomal dominant	Slc34a1 (MGI:1345284)
chr5	177400109	177400661	5q35.2	5q35.3	612812	PFN3	Profilin 3	PFN3	345456	ENSG00000196570			Pfn3 (MGI:2178800)
chr5	177402141	177409564	5q33-qter	5q35.3	610619	F12, HAF, HAE3	Coagulation factor XII (Hageman factor)	F12	2161	ENSG00000131187		Angioedema, hereditary, 3, 610618 (3), Autosomal dominant; Factor XII deficiency, 234000 (3), Autosomal recessive	F12 (MGI:1891012)
chr5	177425523	177442891	5q35	5q35.3	600869	GRK6, GPRK6	G protein-coupled receptor kinase 6	GRK6	2870	ENSG00000198055			Grk6 (MGI:1347078)
chr5	177445995	177456286	5q35.3	5q35.3	618306	PRR7	Proline-rich protein 7	PRR7	80758	ENSG00000131188			Prr7 (MGI:3487246)
chr5	177456610	177473634	5q35.3	5q35.3	126660	DBN1	Drebrin-1	DBN1	1627	ENSG00000113758			Dbn1 (MGI:1931838)
chr5	177483394	177497604	5q35.3	5q35.3	605903	PDLIM7, ENIGMA	PDZ and LIM domain 7 (enigma)	PDLIM7	9260	ENSG00000196923			Pdlim7 (MGI:1914649)
chr5	177501904	177511100	5q35.3	5q35.3	611435	DOK3, DOKL	Docking protein 3	DOK3	79930	ENSG00000146094			Dok3 (MGI:1351490)
chr5	177511577	177516961	5q35.3	5q35.3	608170	DDX41, ABS, MPLPF	DEAD-box helicase 41	DDX41	51428	ENSG00000183258		{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3), Autosomal dominant	Ddx41 (MGI:1920185)
chr5	177519788	177554563	5q35.3	5q35.3	615813	FAM193B, IRIZIO, KIAA1931	Family with sequence similarity 193, member B	FAM193B	54540	ENSG00000146067			Fam193b (MGI:2385851)
chr5	177592203	177597242	5q35.3	5q35.3	620436	TMED9, GMP25	Transmembrane p24 trafficking protein 9	TMED9	54732	ENSG00000184840			Tmed9 (MGI:1914761)
chr5	177600132	177610330	5q35.2-q35.3	5q35.3	604327	B4GALT7, XGALT1, XGPT1, EDSSPD1	Beta-1,4-galactosyltransferase 7	B4GALT7	11285	ENSG00000027847		Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3), Autosomal recessive	B4galt7 (MGI:2384987)
chr5	177992235	177996242	5q	5q35.3	601538	PROP1, CPHD2	Prophet of Pit1, paired-like homeodomain transcription factor	PROP1	5626	ENSG00000175325		Pituitary hormone deficiency, combined, 2, 262600 (3), Autosomal recessive	Prop1 (MGI:109330)
chr5	178113532	178127034	5q35.3	5q35.3	619140	N4BP3, KIAA0341	NEDD4-binding protein 3	N4BP3	23138	ENSG00000145911			N4bp3 (MGI:2442218)
chr5	178149463	178153885	5q35.3	5q35.3	606470	NHP2, NOLA2, DKCB2	NHP2 ribonucleoprotein	NHP2	55651	ENSG00000145912		Dyskeratosis congenita, autosomal recessive 2, 613987 (3), Autosomal recessive	Nhp2 (MGI:1098547)
chr5	178184505	178187371	5q35.3	5q35.3	618629	GMCL2	Germ cell-less 2, spermatogenesis associated	GMCL2	64396	ENSG00000244234			Gmcl1 (MGI:1345156)
chr5	178204533	178211163	5q35.3	5q35.3	602688	HNRNPAB, ABBP1	Heterogeneous nuclear ribonucleoprotein A/B	HNRNPAB	3182	ENSG00000197451			Hnrnpab (MGI:1330294)
chr5	178207144	178232822	5q35.3	5q35.3	614683	PHYKPL, AGXT2L2, PHLU	5-phosphohydroxy-L-lysine phospho-lyase	PHYKPL	85007	ENSG00000175309	mutation identified in 1 PHLU patient	[?Phosphohydroxylysinuria], 615011 (3), Autosomal recessive	Phykpl (MGI:1920197)
chr5	178237618	178590393	5q35	5q35.3	610043	COL23A1	Collagen, type XXIII, alpha-1	COL23A1	91522	ENSG00000050767			Col23a1 (MGI:2653243)
chr5	178602664	178627050	5q35	5q35.3	607969	CLK4	CDC-like kinase 4	CLK4	57396	ENSG00000113240			Clk4 (MGI:1098551)
chr5	178711512	178730659	5q35.3	5q35.3	602444	ZNF354A, TCF17, KID1	Zinc finger protein 354A	ZNF354A	6940	ENSG00000169131			Zfp354a (MGI:103172)
chr5	178978327	178995320	5q35	5q35.3	604096	GRM6, MGLUR6, CSNB1B	Glutamate receptor, metabotropic, 6	GRM6	2916	ENSG00000113262		Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3), Autosomal recessive	Grm6 (MGI:1351343)
chr5	179060373	179083977	5q35.3	5q35.3	619511	ZNF354C, KID3	Zinc finger protein 354C	ZNF354C	30832	ENSG00000177932			Zfp354c (MGI:1353621)
chr5	179110853	179345461	5q23	5q35.3	604539	ADAMTS2, NPI, EDSDERMS	ADAM metallopeptidase with thrombospondin type 1 motif, 2 (procollagen I N-proteinase)	ADAMTS2	9509	ENSG00000087116		Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3), Autosomal recessive	Adamts2 (MGI:1347356)
chr5	179550554	179610012	5q35.3	5q35.3	610327	RUFY1	RUN and FYVE domains-containing protein 1	RUFY1	80230	ENSG00000176783			Rufy1 (MGI:2429762)
chr5	179614178	179634784	5q35.3	5q35.3	601035	HNRPH1, NEDCDS	Heterogeneous nuclear ribonucleoprotein H	HNRNPH1	3187	ENSG00000169045		Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, 620083 (3), Autosomal dominant	Hnrnph1 (MGI:1891925)
chr5	179678560	179681034	5q35.3	5q35.3	620892	CBY3	Chibby family, member 3	CBY3	646019	ENSG00000204659			Cby3 (MGI:1923903)
chr5	179678656	179731641	5q35	5q35.3	114217	CANX	Calnexin	CANX	821	ENSG00000127022			Canx (MGI:88261)
chr5	179732822	179777283	5q35	5q35.3	605424	MAML1	Mastermind, Drosophila, homolog of, 1	MAML1	9794	ENSG00000161021			Maml1 (MGI:1890504)
chr5	179793986	179796647	5q35	5q35.3	246530	LTC4S	Leukotriene C4 synthase	LTC4S	4056	ENSG00000213316		Leukotriene C4 synthase deficiency, 614037 (1), Autosomal recessive	Ltc4s (MGI:107498)
chr5	179797597	179806866	5q35	5q35.3	604561	MGAT4B	Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	MGAT4B	11282	ENSG00000161013			Mgat4b (MGI:2143974)
chr5	179806393	179838078	5q35	5q35.3	601530	SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV	Sequestosome 1	SQSTM1	8878	ENSG00000161011		Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3), Autosomal dominant; Myopathy, distal, with rimmed vacuoles, 617158 (3), Autosomal dominant; Paget disease of bone 3, 167250 (3), Autosomal dominant	Sqstm1 (MGI:107931)
chr5	179837276	179858817	5q35.3	5q35.3	617154	MRNIP, C5orf45	MRN complex-interacting protein	MRNIP	51149	ENSG00000161010			Mrnip (MGI:1915317)
chr5	179862071	179907897	5q35.3	5q35.3	618039	TBC1D9B, KIAA0676	TBC domain family, member 9B	TBC1D9B	23061	ENSG00000197226			Tbc1d9b (MGI:1924045)
chr5	179911651	180071759	5q35.3	5q35.3	619163	RNF130, GOLIATH, G1RP	RING finger protein 130	RNF130	55819	ENSG00000113269			Rnf130 (MGI:1891717)
chr5	180233143	180292083	5q35	5q35.3	602896	MAPK9, PRKM9, JNK2	Mitogen-activated protein kinase 9	MAPK9	5601	ENSG00000050748			Mapk9 (MGI:1346862)
chr5	180300698	180353336	5q34-q35	5q35.3	603865	GFPT2, GFAT2	Glutamine: fructose-6-phosphate amidotransferase 2	GFPT2	9945	ENSG00000131459			Gfpt2 (MGI:1338883)
chr5	180494379	180578358	5q35.3	5q35.3	608951	CNOT6, CCR4, KIAA1194	CCR4-NOT transcription complex, subunit 6	CNOT6	57472	ENSG00000113300			Cnot6 (MGI:2144529)
chr5	180590105	180591499	5q35	5q35.3	606500	SCGB3A1, HIN1	Secretoglobin, family 3A, member 1	SCGB3A1	92304	ENSG00000161055			Scgb3a1 (MGI:1915912)
chr5	180601506	180650298	5q35.3	5q35.3	136352	FLT4, VEGFR3, PCL, LMPHM1, CHTD7	fms-related tyrosine kinase-4 (vascular endothelial growth factor receptor 3)	FLT4	2324	ENSG00000037280		Hemangioma, capillary infantile, somatic, 602089 (3); Lymphatic malformation 1, 153100 (3), Autosomal dominant; Congenital heart defects, multiple types, 7, 618780 (3), Autosomal dominant	Flt4 (MGI:95561)
chr5	180784780	180815616	5q35	5q35.3	160995	MGAT1, GLYT1	Mannosyl (alpha-1,3-)-glycoprotein beta-1,2, N-acetylglucosaminyltransferase	MGAT1	4245	ENSG00000131446			Mgat1 (MGI:96973)
chr5	180826870	180861276	5q35.3	5q35.3	610281	ZFP62	Zinc finger protein 62	ZFP62	643836	ENSG00000196670			Zfp62 (MGI:99662)
chr5	180829954	180831618	5q35.3	5q35.3	618615	HEIH, LINC00848	Hepatocellular carcinoma-upregulated EZH2-associated long noncoding RNA	HEIH	100859930	ENSG00000278970			
chr5	180899159	180950906	5q35.3	5q35.3	615606	BTNL8, BTN9.2	Butyrophilin-like protein 8	BTNL8	79908	ENSG00000113303			
chr5	180988846	181006727	5q35	5q35.3	606192	BTNL3	Butyrophilin-like protein 3	BTNL3	10917	ENSG00000168903			
chr5	181040266	181061521	5q35.3	5q35.3	620648	BRNL9, BTN3	Butyrophilin-like protein 9	BTNL9	153579	ENSG00000165810			Btnl9 (MGI:2442439)
chr5	181097070	181097142	5q35.3	5q35.3	612995	TRV-CAC1-2, TRNAV2, TRV2	tRNA valine (anticodon CAC) 1-2	TRV-CAC1-2	7240				
chr5	181188854	181188925	5q35.3	5q35.3	189912	TRP-TGG3-5, TRNAP3, TRP3	Transfer RNA-Pro (TGG) 3-5	TRP-TGG3-1	7219				
chr5	181191687	181191758	5q35.3	5q35.3	189913	TRT-TGT6-1, TRNAT1, TRT1	tRNA threonine (anticodon TGT) 6-1	TRT-TGT6-1	7236				
chr5	181193924	181205196	5q35.3	5q35.3	609315	TRIM7, GNIP	Tripartite motif-containing protein 7	TRIM7	81786	ENSG00000146054			Trim7 (MGI:2137353)
chr5	181218270	181218342	5q35.3	5q35.3	189921	TRV-AAC1-4, TRNAV1, TRV1	tRNA valine (anticodon AAC) 1-4	TRV-AAC1-4	7239				
chr5	181221979	181222051	5q35.3	5q35.3	612996	TRK-CTT2-4, TRNAK2, TRK2	Transfer RNA lysine (CTT) 2-4	TRK-CTT2-3	790966				
chr5	181223281	181235808	5q35.3	5q35.3	610530	TRIM41	Tripartite motif-containing 41	TRIM41	90933	ENSG00000146063			Trim41 (MGI:2384814)
chr5	181236897	181243906	5q35.3	5q35.3	176981	GNB2L1, RACK1	Guanine nucleotide-binding protein, beta-2-like 1	RACK1	10399	ENSG00000204628			Rack1 (MGI:101849)
chr5	181249062	181261143	5q35.3	5q35.3	619265	TRIM52	Tripartite motif-containing protein 52	TRIM52	84851	ENSG00000183718			Trim52 (MGI:3045276)
chr5	181261212	181272307	5q35.3	5q35.3	619266	TRIM52AS1	TRIM52 antisense RNA 1, noncoding	TRIM52-AS1	100507602	ENSG00000248275			
chr6	1	7100000	6p25		612558	CLLS4	Leukemia, chronic lymphocytic susceptibility to, 4		100270643		associated with rs872071	{Leukemia, chronic lymphocytic susceptibility to, 4}, 612558 (2)	
chr6	1	59800001	6p		122550	CSCI	Corticosterone side-chain isomerase				?linked to MHC		
chr6	1	13400000	6pter-p24		612582	DEL6pter, C6DELpter	Chromosome 6pter-p24 deletion syndrome					Chromosome 6pter-p24 deletion syndrome, 612582 (4), Isolated cases	
chr6	1	25200000	6p25.3-p22.3		610294	INTLQ3	Intelligence quantitative trait locus 3		100462722			{Intelligence QTL3}, 610294 (2)	
chr6	1	7100000	6p25		608545	LRSL	Larsen-like syndrome		406214			Larsen-like syndrome, 608545 (2), Isolated cases	
chr6	292487	351355	6p25.3	6p25.3	616778	DUSP22, LMWDSP2, MKPX, VHX, JKAP, JSP1	Dual-specificity phosphatase 22	DUSP22	56940	ENSG00000112679			Dusp22 (MGI:1915926)
chr6	391752	411443	6p25-p23	6p25.3	601900	IRF4, LSIRF, SHEP8, IMD131	Interferon regulatory factor-4	IRF4	3662	ENSG00000137265	dysregulated in t(6;14)	[Skin/hair/eye pigmentation, variation in, 8], 611724 (3); Immunodeficiency 131, 621097 (3), Autosomal recessive, Autosomal dominant	Irf4 (MGI:1096873)
chr6	485154	693139	6p25.3	6p25.3	615329	EXOC2, SEC5L1, SEC5, NEDFACH	Exocyst complex component 2	EXOC2	55770	ENSG00000112685		Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, 619306 (3), Autosomal recessive	Exoc2 (MGI:1913732)
chr6	655939	657100	6p25.3-p25.1	6p25.3	609713	HUS1B	HUS1 checkpoint clamp component B	HUS1B	135458	ENSG00000188996			Hus1b (MGI:2671003)
chr6	1312098	1314758	6p25	6p25.3	612788	FOXQ1, HFH1	Forkhead box Q1	FOXQ1	94234	ENSG00000164379			Foxq1 (MGI:1298228)
chr6	1389576	1395603	6p25.3	6p25.3	603250	FOXF2, FKHL6, FREAC2	Forkhead box F2	FOXF2	2295	ENSG00000137273			Foxf2 (MGI:1347479)
chr6	1605531	1607358	6p25	6p25.3	615976	FOXCUT, LINC01379	FOXC1 upstream transcript, noncoding	FOXCUT	101927703				
chr6	1609915	1613897	6p25	6p25.3	601090	FOXC1, FKHL7, FREAC3, IRID1, RIEG3, ASGD3	Forkhead, Drosophila, homolog-like 7	FOXC1	2296	ENSG00000054598		Axenfeld-Rieger syndrome, type 3, 602482 (3), Autosomal dominant; Anterior segment dysgenesis 3, multiple subtypes, 601631 (3), Autosomal dominant	Foxc1 (MGI:1347466)
chr6	1623806	2245605	6p25	6p25.3	602884	GMDS	GDP-mannose 4,6-dehydratase	GMDS	2762	ENSG00000112699			Gmds (MGI:1891112)
chr6	2765393	2786952	6p25.2	6p25.2	608196	WRNIP1, WHIP	Werner helicase-interacting protein 1	WRNIP1	56897	ENSG00000124535			Wrnip1 (MGI:1926153)
chr6	2832332	2841863	6pter-p24	6p25.2	130135	ELANH2, EI	Protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived	SERPINB1	1992	ENSG00000021355			Serpinb1a,Serpinb1b,Serpinb1c (MGI:1913472,MGI:2445361,MGI:2445363)
chr6	2887270	2903309	6p25	6p25.2	601799	PI9, CAP3, SERPINB9	Protease inhibitor 9, ovalbumin type	SERPINB9	5272	ENSG00000170542			Serpinb9,Serpinb9b,Serpinb9c,Serpinb9d,Serpinb9e,Serpinb9f,Serpinb9g,Serpinb9h (MGI:106603,MGI:1919260,MGI:3709608,MGI:894667,MGI:894668,MGI:894669,MGI:894671,MGI:894672)
chr6	2948159	2971793	6p25	6p25.2	173321	SERPINB6, PI6, PTI, SPI3, DFNB91	Protease inhibitor 6 (placental thrombin inhibitor)	SERPINB6	5269	ENSG00000124570	mutation identified in 1 DFNB91 family	?Deafness, autosomal recessive 91, 613453 (3), Autosomal recessive	Serpinb6a,Serpinb6b,Serpinb6c,Serpinb6d,Serpinb6e (MGI:103123,MGI:2145481,MGI:2667778,MGI:2667783,MGI:894688)
chr6	2999894	3019755	6p25	6p25.2	160998	NQO2, NMOR2	NAD(P)H dehydrogenase, quinone 2 (NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2)	NQO2	4835	ENSG00000124588		{?Breast cancer susceptibility}, 114480 (1), Somatic mutation, Autosomal dominant	Nqo2 (MGI:104513)
chr6	3063967	3115187	6p25.2	6p25.2	603453	RIPK1, RIP1, RIP, IMD57, AIEFL	Receptor-interacting serine/threonine kinase 1	RIPK1	8737	ENSG00000137275		Immunodeficiency 57 with autoinflammation, 618108 (3), Autosomal recessive; Autoinflammation with episodic fever and lymphadenopathy, 618852 (3), Autosomal dominant	Ripk1 (MGI:108212)
chr6	3118376	3153578	6p25	6p25.2	603156	BPHL	Biphenyl hydrolase-like	BPHL	670	ENSG00000137274			Bphl (MGI:1915271)
chr6	3153666	3157544	6p25.2	6p25.2	615101	TUBB2A, CDCBM5	Tubulin, beta-2A	TUBB2A	7280	ENSG00000137267		Cortical dysplasia, complex, with other brain malformations 5, 615763 (3), Autosomal dominant	Tubb2a (MGI:107861)
chr6	3224277	3227653	6p25.2	6p25.2	612850	TUBB2B, CDCBM7	Tubulin, beta-2B	TUBB2B	347733	ENSG00000137285	TUBB2A is 70kb telomeric to TUBB2B	Cortical dysplasia, complex, with other brain malformations 7, 610031 (3), Autosomal dominant	Tubb2b (MGI:1920960)
chr6	3254404	3268049	6p25.2	6p25.2	617550	PSMG4, PAC4, C6orf86	Proteasome assembly chaperone 4	PSMG4	389362	ENSG00000180822			Psmg4 (MGI:1916916)
chr6	3268973	3457050	6p25.2	6p25.2	611697	SLC22A23, C6orf85	Solute carrier family 22, member 23	SLC22A23	63027	ENSG00000137266			Slc22a23 (MGI:1920352)
chr6	3831894	3851317	6p25.2	6p25.2	614686	FAM60B, X5L	Family with sequence similarity 50, member B	FAM50B	26240	ENSG00000145945			Fam50b (MGI:1351640)
chr6	4021300	4064983	6p25.2	6p25.2	602338	PRP4K, PRPF4B, PRP4	Pre-mRNA processing factor kinase PRP4K	PRP4K	8899	ENSG00000112739			Prpf4b (MGI:109584)
chr6	4115706	4135575	6p25.2	6p25.2	608024	ECI2, PECI, DRS1	Enoyl-CoA delta isomerase 2	ECI2	10455	ENSG00000198721			Eci2,Eci3 (MGI:1346064,MGI:1916373)
chr6	4706138	4955544	6p25.1	6p25.1	603778	CDYL	Chromodomain protein on Y chromosome-like	CDYL	9425	ENSG00000153046			Cdyl (MGI:1339956)
chr6	4988426	5004037	6p25.1	6p25.1	606117	RPP40	Ribonuclease P/MRP subunit p40	RPP40	10799	ENSG00000124787			Rpp40 (MGI:1346084)
chr6	5031753	5260950	6p25.1	6p25.1	613311	LYRM4, ISD11, C6orf149, COXPD19	LYR motif-containing protein 4	LYRM4	57128	ENSG00000214113	mutation identified in 1 family	?Combined oxidative phosphorylation deficiency 19, 615595 (3), Autosomal recessive	Lyrm4 (MGI:2683538)
chr6	5085341	5089487	6p25.1	6p25.1	619541	PPP1R3G	Protein phosphatase 1, regulatory subunit 3G	PPP1R3G	648791	ENSG00000219607			Ppp1r3g (MGI:1923737)
chr6	5249934	5771583	6p25.1	6p25.1	611592	FARS2, FARS1, COXPD14, SPG77	Phenylalanyl-tRNA synthetase 2, mitochondrial	FARS2	10667	ENSG00000145982		Combined oxidative phosphorylation deficiency 14, 614946 (3), Autosomal recessive; Spastic paraplegia 77, autosomal recessive, 617046 (3), Autosomal recessive	Fars2 (MGI:1917205)
chr6	5997999	6007518	6p25.1	6p25.1	607409	NRN1, NRN	Neuritin 1	NRN1	51299	ENSG00000124785			Nrn1 (MGI:1915654)
chr6	6144084	6320662	6p25-p24	6p25.1	134570	F13A1, F13A	Coagulation factor XIII, A polypeptide	F13A1	2162	ENSG00000124491		Factor XIIIA deficiency, 613225 (3), Autosomal recessive; {Myocardial infarction, protection against}, 608446 (3); {Venous thrombosis, protection against}, 188050 (3), Autosomal dominant	F13a1 (MGI:1921395)
chr6	6588720	6654982	6p25.1	6p25.1	605241	LY86, MD1	Lymphocyte antigen 86	LY86	9450	ENSG00000112799			Ly86 (MGI:1321404)
chr6	7100001	10600000	6p24.3		119530	OFC1, CL	Orofacial cleft-1 (cleft lip with or without cleft palate; isolated cleft palate)		4963		probable heterogeneity	Orofacial cleft-1, 119530 (2), Autosomal dominant	
chr6	7107743	7251980	6p25	6p24.3	602209	RREB1	RAS-responsive element binding protein-1	RREB1	6239	ENSG00000124782			Rreb1 (MGI:2443664)
chr6	7281143	7313199	6p24.3	6p24.3	600868	SSR1	Signal sequence receptor, alpha	SSR1	6745	ENSG00000124783			Ssr1 (MGI:105082)
chr6	7326659	7389742	6p25.3-p24.1	6p24.3	608304	CTAG3, CAGE1	Cancer/testis antigen 3	CAGE1	285782	ENSG00000164304			Cage1 (MGI:1918463)
chr6	7389808	7418037	6p24.3	6p24.3	617753	RIOK1, RIO1	RIO kinase 1	RIOK1	83732	ENSG00000124784			Riok1 (MGI:1918590)
chr6	7541671	7586714	6p24	6p24.3	125647	DSP, KPPS2, PPKS2, DCWHKTA	Desmoplakin	DSP	1832	ENSG00000096696	splice variants result in DP I and DP II	Arrhythmogenic right ventricular dysplasia 8, 607450 (3), Autosomal dominant; Epidermolysis bullosa, lethal acantholytic, 609638 (3), Autosomal recessive; Keratosis palmoplantaris striata II, 612908 (3), Autosomal dominant; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3), Autosomal dominant; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3), Autosomal recessive	Dsp (MGI:109611)
chr6	7726099	7881728	6p24-p23	6p24.3	112266	BMP6, IO	Bone morphogenetic protein-6	BMP6	654	ENSG00000153162		{Iron overload, susceptibility to}, 620121 (3), Autosomal dominant	Bmp6 (MGI:88182)
chr6	7881517	7910788	6p25.2	6p24.3	616412	TXNDC5, ERP46, ENDOPDI, HCC2	Thioredoxin domain-containing protein 5	TXNDC5	81567	ENSG00000239264			Txndc5 (MGI:2145316)
chr6	8013567	8064414	6p24.3	6p24.3	607289	BLOC1S5, BLOS5, MUTED, HPS11	Biogenesis of lysosome-related organelles complex 1, subunit 5	BLOC1S5	63915	ENSG00000188428		Hermansky-Pudlak syndrome 11, 619172 (3), Autosomal recessive	Bloc1s5 (MGI:2178598)
chr6	8073360	8102548	6p25.1-p23	6p24.3	609206	EEF1E1	Eukaryotic translation elongation factor 1, epsilon-1	EEF1E1	9521	ENSG00000124802			Eef1e1 (MGI:1913393)
chr6	8411435	8435567	6p24.3	6p24.3	610845	SLC35B3, PAPST2	Solute carrier family 25 (3'-phosphoadenosine 5'-phosphosulfate transporter), member B3	SLC35B3	51000	ENSG00000124786			Slc35b3 (MGI:1913978)
chr6	8652269	8653856	6p24.3	6p24.3	612210	HULC	Hepatocellular carcinoma-upregulated long noncoding RNA	HULC	728655				
chr6	9704978	10211608	6p24	6p24.3	614287	OFCC1, MRDS1	OFC1 candidate gene 1	OFCC1	266553				Ofcc1 (MGI:2658851)
chr6	10396677	10419659	6p24	6p24.3	107580	TFAP2A, AP2TF, BOFS	Transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)	TFAP2A	7020	ENSG00000137203		Branchiooculofacial syndrome, 113620 (3), Autosomal dominant	Tfap2a (MGI:104671)
chr6	10404502	10407927	6p24.3	6p24.3	617136	TFAP2AAS2, HIPSTR	TFAP2A antisense RNA 2	TFAP2A-AS2	109729173	ENSG00000285278	overlaps TFAP2A		
chr6	10521351	10629368	6p24-p23	6p24.3-p24.2	600429	GCNT2, Ii, CTRCT13	Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme	GCNT2	2651	ENSG00000111846	previously assigned to 9q21	[Blood group, Ii], 110800 (3), Autosomal dominant; Adult i phenotype without cataract, 110800 (3), Autosomal dominant; Cataract 13 with adult i phenotype, 116700 (3), Autosomal recessive	Gcnt2 (MGI:1100870)
chr6	10690865	10709782	6p24.2	6p24.2	607811	PAK1IP1, PIP1	PAK1-interacting protein	PAK1IP1	55003	ENSG00000111845			Pak1ip1 (MGI:1915333)
chr6	10723070	10731127	6p24.3	6p24.2	615318	TMEM14C	Transmembrane protein 14C	TMEM14C	51522	ENSG00000111843			Tmem14c (MGI:1913404)
chr6	10747759	10759774	6p24.2	6p24.2	619865	TMEM14B	Transmembrane protein 14B	TMEM14B	81853	ENSG00000137210			Tmem14c (MGI:1913404)
chr6	10762723	10838539	6p24.2	6p24.2	154235	MAK, RP62	Male germ cell-associated kinase	MAK	4117	ENSG00000111837		Retinitis pigmentosa 62, 614181 (3), Autosomal recessive	Mak (MGI:96913)
chr6	10873223	10882041	6p24.2	6p24.2	603716	GCM2, GCMB, HRPT4, FIH2	Glial cells missing transcription factor 2	GCM2	9247	ENSG00000124827		Hypoparathyroidism, familial isolated 2, 618883 (3), Autosomal recessive, Autosomal dominant; Hyperparathyroidism 4, 617343 (3), Autosomal dominant	Gcm2 (MGI:1861438)
chr6	10887052	10974309	6p24.2	6p24.2	616799	SYCP2L, C6orf177, POF24	Synaptonemal complex protein 2-like	SYCP2L	221711	ENSG00000153157		Premature ovarian failure 24, 620840 (3), Autosomal recessive	Sycp2l (MGI:2685114)
chr6	10980759	11044305	6p24.2	6p24.2	611814	ELOVL2, SSC2	Elongation of very long chain fatty acids-like 2	ELOVL2	54898	ENSG00000197977			Elovl2 (MGI:1858960)
chr6	11102489	11111725	6p24.1	6p24.2	610524	ERVFRD-1	Endogenous retrovirus group FRD, member 1	ERVFRD-1	405754	ENSG00000244476			Syna,Synb (MGI:2684898,MGI:3045308)
chr6	11183298	11382348	6p24.2	6p24.2	602265	NEDD9, HEF1, CASL	Neural precursor cell expressed, developmentally downregulated 9	NEDD9	4739	ENSG00000111859			Nedd9 (MGI:97302)
chr6	11600001	13400000	6p24.1		618979	HDLCQ7	High density lipoprotein cholesterol level QTL7		131341973			[High density lipoprotein cholesterol level QTL7], 618979 (2)	
chr6	11713523	11778803	6p24.1	6p24.1	614348	ADTRP, C6orf105	Androgen-dependent TFPI-regulating protein	ADTRP	84830	ENSG00000111863			Adtrp (MGI:1924596)
chr6	12007693	12212048	6p24-p22.3	6p24.1	194540	HIVEP1, ZNF40	Human immunodeficiency virus type I enhancer-binding protein-1	HIVEP1	3096	ENSG00000095951			Hivep1 (MGI:96100)
chr6	12230516	12297194	6p24-p23	6p24.1	131240	EDN1, ARCND3, QME	Endothelin-1	EDN1	1906	ENSG00000078401		Question mark ears, isolated, 612798 (3), Autosomal dominant; Auriculocondylar syndrome 3, 615706 (3), Autosomal recessive	Edn1 (MGI:95283)
chr6	12716767	13287837	6p24.1	6p24.1	608723	PHACTR1, KIAA1733, DEE70	Phosphatase and actin regulator 1	PHACTR1	221692	ENSG00000112137		Developmental and epileptic encephalopathy 70, 618298 (3), Autosomal dominant	Phactr1 (MGI:2659021)
chr6	13304951	13328537	6p24.1	6p24.1	612655	TBC1D7, PIG51, TBC7, MGCPH	TBC1 domain family, member 7	TBC1D7	51256	ENSG00000145979		Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3), Autosomal recessive	Tbc1d7 (MGI:1914296)
chr6	13357830	13487600	6p24.1-p23	6p24.1-p23	619932	GFOD1	Glucose-fructose oxidoreductase domain-containing protein 1	GFOD1	54438	ENSG00000145990			Gfod1 (MGI:2145304)
chr6	13400001	15200000	6p23		611456	ETM3	Tremor, hereditary essential, 3		101027378		max lod at D6S1630 and D6S1605	Essential tremor, hereditary, 3, 611456 (2)	
chr6	13400001	46200000	6p23-p21		271250	SCAR3, SCABD	Spinocerebellar ataxia, autosomal recessive 3		85502			Spinocerebellar ataxia, autosomal recessive 3, 271250 (2), Autosomal recessive	
chr6	13400001	15200000	6p23		600511	SCZD3	Schizophrenia susceptibility locus, chromosome 6-related		6365		?same as DTNBP1; cognitive deficit type	{Schizophrenia}, 181500 (2), Autosomal dominant	
chr6	13400001	69200000	6p23-q12		180620	TRNAM2, TRNAMI2, RNTMI2	tRNA methionine-2	TRX-CAT2-1	7212		2 of 12+ RNTMI genes are on chr. 6		
chr6	13574274	13615158	6p23	6p23	604483	SIRT5	Sirtuin 5	SIRT5	23408	ENSG00000124523			Sirt5 (MGI:1915596)
chr6	13615335	13632470	6p23	6p23	611533	NOL7	Nucleolar protein 7	NOL7	51406	ENSG00000225921			Nol7 (MGI:1917328)
chr6	13621498	13711835	6p23	6p23	603854	RANBP9, RANBPM	RAN-binding protein 9	RANBP9	10048	ENSG00000010017			Ranbp9 (MGI:1928741)
chr6	13786557	13814557	6p23	6p23	616952	MCUR1, CCDC90A, FMP32	Mitochondrial calcium uniporter regulator 1	MCUR1	63933	ENSG00000050393			Mcur1 (MGI:1923387)
chr6	13924446	13980310	6p23	6p23	621026	RNF182	RING finger protein 182	RNF182	221687	ENSG00000180537			Rnf182 (MGI:3045355)
chr6	14117256	14136918	6p23	6p23	604534	CD83, HB15, BL11	CD83 antigen	CD83	9308	ENSG00000112149			Cd83 (MGI:1328316)
chr6	15200001	30500000	6p22		612368	ALPQTL3	Alkaline phosphatase, plasma level of, QTL 3		100196915		linkage with rs9467160	{Alkaline phosphatase, plasma level of, QTL3}, 612368 (2)	
chr6	15200001	25200000	6p22.3		615192	BWQTL4	Birth weight quantitative trait locus 4		101448071		associated with rs7756992	[Birth weight QTL4], 615192 (2)	
chr6	15200001	25200000	6p22.3		613290	CIHL	Hearing loss, cisplatin-induced, susceptibility to		100381207		associated with rs12201199	{?Hearing loss, cisplatin-induced, susceptibility to}, 613290 (2)	
chr6	15200001	27100000	6p22.3-p22.2		603209	CMAHP, CMAH	Cytidine monophospho-N-acetylneuraminic acid hydroxylase pseudogene	CMAHP	8418	ENSG00000293489	mutation inactivates gene in humans		
chr6	15200001	46200000	6p22-p21		600202	DYX2	Dyslexia, susceptibility to, 2				?between D6S105 and TNFB	{Dyslexia, susceptibility to, 2}, 600202 (2), Autosomal dominant	
chr6	15200001	30500000	6p22		613015	NBLST4	Neuroblastoma, susceptibility to, 4		100306937		associated with rs6939340, rs4712653, rs9295536	{Neuroblastoma, susceptibility to, 4}, 613015 (2)	
chr6	15200001	36600000	6p22.3-p21.3		608244	OTSC3	Otosclerosis 3		170532			Otosclerosis 3, 608244 (2), Autosomal dominant	
chr6	15246069	15522042	6p22.3	6p22.3	601594	JARID2, JMJ, DIDDF	Jumonji and AT-rich interaction domain containing 2	JARID2	3720	ENSG00000008083		Developmental delay with variable intellectual disability and dysmorphic facies, 620098 (3), Autosomal dominant	Jarid2 (MGI:104813)
chr6	15522807	15663058	6p22.3	6p22.3	607145	DTNBP1, HPS7	Dystrobrevin-binding protein 1 (dysbindin)	DTNBP1	84062	ENSG00000047579		Hermansky-Pudlak syndrome 7, 614076 (3), Autosomal recessive	Dtnbp1 (MGI:2137586)
chr6	16129086	16163887	6p23-p22.3	6p22.3	610082	MYLIP, MIR	Myosin regulatory light chain-interacting protein	MYLIP	29116	ENSG00000007944			Mylip (MGI:2388271)
chr6	16238587	16295549	6p23	6p22.3	139265	GMPR, GMPR1	Guanosine monophosphate reductase	GMPR	2766	ENSG00000137198			Gmpr (MGI:1913605)
chr6	16299112	16761460	6p23	6p22.3	601556	ATXN1, ATX1, SCA1	Ataxin-1	ATXN1	6310	ENSG00000124788		Spinocerebellar ataxia 1, 164400 (3), Autosomal dominant	Atxn1 (MGI:104783)
chr6	17281361	17293871	6p22.3	6p22.3	617603	RBM24, RNPC6	RNA-binding motif protein 24	RBM24	221662	ENSG00000112183			Rbm24 (MGI:3610364)
chr6	17393595	17557780	6p22.3	6p22.3	618385	CAP2, CMD2I	Cyclase-associated actin cytoskeleton regulatory protein 2	CAP2	10486	ENSG00000112186		Cardiomyopathy, dilated, 2I, 620462 (3), Autosomal recessive	Cap2 (MGI:1914502)
chr6	17600302	17611715	6p23	6p22.3	618409	FAM8A1	Family with sequence similarity 8, member A1	FAM8A1	51439	ENSG00000137414			Fam8a1 (MGI:2145496)
chr6	17615037	17706925	6p22.3	6p22.3	603948	NUP153	Nucleoporin, 153kD	NUP153	9972	ENSG00000124789			Nup153 (MGI:2385621)
chr6	17759126	17987635	6p22.3	6p22.3	605433	KIF13A	Kinesin family member 13A	KIF13A	63971	ENSG00000137177			Kif13a (MGI:1098264)
chr6	18120440	18122677	6p22.3	6p22.3	608072	NHLRC1, MELF2	NHL repeat-containing 1 gene (malin)	NHLRC1	378884	ENSG00000187566		Myoclonic epilepsy of Lafora 2, 620681 (3), Autosomal recessive	Nhlrc1 (MGI:2145264)
chr6	18128311	18155169	6p22.3	6p22.3	187680	TPMT, TPMTD	Thiopurine S-methyltransferase	TPMT	7172	ENSG00000137364		{Thiopurines, poor metabolism of, 1}, 610460 (3), Autosomal recessive	Tpmt (MGI:98812)
chr6	18155422	18223854	6p22.3	6p22.3	613081	KDM1B, LSD2, AOF1	Lysine demethylase 1B	KDM1B	221656	ENSG00000165097			Kdm1b (MGI:2145261)
chr6	18223860	18264530	6p23	6p22.3	125264	DEK, D6S231E	DEK oncogene	DEK	7913	ENSG00000124795	fused with CAN in t(6;9)	Leukemia, acute nonlymphocytic, 125264 (2)	Dek (MGI:1926209)
chr6	18387350	18468870	6p22.3	6p22.3	618869	RNF144B	RING finger protein 144B	RNF144B	255488	ENSG00000137393			Rnf144b (MGI:2384986)
chr6	19837370	19842197	6p22-p21.3	6p22.3	600581	ID4	Inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	ID4	3400	ENSG00000172201			Id4 (MGI:99414)
chr6	20099684	20212469	6p23	6p22.3	611732	MBOAT1	Membrane-bound O-acetyltransferase domain-containing 1	MBOAT1	154141	ENSG00000172197			Mboat1 (MGI:2387184)
chr6	20401879	20493714	6p22	6p22.3	600427	E2F3	E2F transcription factor 3	E2F3	1871	ENSG00000112242			E2f3 (MGI:1096340)
chr6	20534457	21232404	6p22.3	6p22.3	611259	CDKAL1	CDK5 regulatory subunit-associated protein 1-like 1	CDKAL1	54901	ENSG00000145996			Cdkal1 (MGI:1921765)
chr6	21593751	21598619	6p22.3	6p22.3	184430	SOX4, CSS10	SRY (sex determining region Y)-box 4	SOX4	6659	ENSG00000124766		Coffin-Siris syndrome 10, 618506 (3), Autosomal dominant	Sox4 (MGI:98366)
chr6	21666413	22195820	6p22.3	6p22.3	616610	CASC15, LINC00340	Cancer susceptibility candidate 15, noncoding	CASC15	401237				
chr6	22134602	22147193	6p22	6p22.3	616206	NBAT1	Neuroblastoma-associated transcript 1, noncoding	NBAT1	729177				
chr6	22287246	22302835	6p22.2-p21.3	6p22.3	176760	PRL	Prolactin	PRL	5617	ENSG00000172179	?between 6cen and GLO1		Prl (MGI:97762)
chr6	24126215	24147530	6p22	6p22.3	616630	NRSN1, VMP	Neurensin 1	NRSN1	140767	ENSG00000152954			Nrsn1 (MGI:894662)
chr6	24171755	24383292	6p22.1	6p22.3	605755	DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC	Doublecortin domain-containing protein 2	DCDC2	51473	ENSG00000146038	mutation identified in 1 DFNB66 family	Nephronophthisis 19, 616217 (3), Autosomal recessive; ?Deafness, autosomal recessive 66, 610212 (3), Autosomal recessive; Sclerosing cholangitis, neonatal, 617394 (3), Autosomal recessive	Dcdc2a (MGI:2652818)
chr6	24356903	24358285	6p22.1	6p22.3	608211	KAAG1, RU2AS	Kidney-associated antigen 1	KAAG1	353219	ENSG00000146049			
chr6	24402936	24426190	6p22.3	6p22.3	619307	MRS2	Magnesium transporter MRS2	MRS2	57380	ENSG00000124532			Mrs2 (MGI:2685748)
chr6	24423969	24495287	6p22.1	6p22.3	602515	GPLD1, PIGPLD, GPIPLD	Phospholipase D1, glycosylphosphatidylinositol-specific	GPLD1	2822	ENSG00000112293			Gpld1 (MGI:106604)
chr6	24494969	24537207	6p22	6p22.3	610045	ALDH5A1, SSADH	Succinic semialdehyde dehydrogenase	ALDH5A1	7915	ENSG00000112294		Succinic semialdehyde dehydrogenase deficiency, 271980 (3), Autosomal recessive	Aldh5a1 (MGI:2441982)
chr6	24540141	24646191	6p22.2	6p22.3	609269	KIAA0319	KIAA0319 gene	KIAA0319	9856	ENSG00000137261			D130043K22Rik (MGI:3036268)
chr6	24649979	24666899	6p22.3-p22.1	6p22.3	605764	TDP2, TTRAP	Tyrosyl-DNA phosphodiesterase 2	TDP2	51567	ENSG00000111802		Spinocerebellar ataxia, autosomal recessive 23, 616949 (3), Autosomal recessive	Tdp2 (MGI:1860486)
chr6	24667077	24705046	6p22.3	6p22.3	615652	ACOT13, THEM2	Acyl-CoA thioesterase 13	ACOT13	55856	ENSG00000112304			Acot13 (MGI:1914084)
chr6	24774937	24786099	6p22.3	6p22.3	602842	GMNN, MGORS6	Geminin DNA replication inhibitor	GMNN	51053	ENSG00000112312		Meier-Gorlin syndrome 6, 616835 (3), Autosomal dominant	Gmnn (MGI:1927344)
chr6	24804284	25042168	6p22.3-p21.32	6p22.3	611410	RIPOR2, FAM65B, C6orf32, KIAA0386, PL48, DFNB104, DFNA21	RHO family interacting cell polarization regulator 2	RIPOR2	9750	ENSG00000111913	mutation identified in 1 DFNB104 family	Deafness, autosomal dominant 21, 607017 (3), Autosomal dominant; ?Deafness, autosomal recessive 104, 616515 (3), Autosomal recessive	Ripor2 (MGI:2444879)
chr6	25200001	27100000	6p22.2		612635	MVCD7	Microvascular complications of diabetes, susceptibility to, 7		131554433			{Microvascular complications of diabetes, susceptibility to, 7}, 612635 (2)	
chr6	25200001	27100000	6p22.2		614193	TFQTL2	Transferring serum level quantitative trait locus 2		131554434			[Transferrin serum level quantitative trait locus 2], 614193 (2)	
chr6	25279374	25620530	6p22.2	6p22.2	609593	CARMIL1, LRRC16A, LRRC16	Capping protein regulator and myosin 1 linker 1	CARMIL1	55604	ENSG00000079691			Carmil1 (MGI:1915982)
chr6	25652215	25701783	6p22.2	6p22.2	609202	SCGN	Secretagogin	SCGN	10590	ENSG00000079689			Scgn (MGI:2384873)
chr6	25723743	25832052	6p23-p21.3	6p22.2	182308	SLC17A1, NPT1	Solute carrier family 17, sodium phosphate, member-1 (Sodium phosphate transport 1, kidney)	SLC17A1	6568	ENSG00000124568			Slc17a1 (MGI:103209)
chr6	25726063	25726562	6p22.2	6p22.2	613499	H2AC1, HISTH2AA, H2AFR, H2AA	H2A clustered histone 1	H2AC1	221613	ENSG00000164508			H2ac1,H2ac15 (MGI:2448285,MGI:2448297)
chr6	25726777	25727345	6p22.2	6p22.2	609904	H2BC1, HIST1H2BA, TSH2B	H2B clustered histone 1	H2BC1	255626	ENSG00000146047			H2bc1 (MGI:2448375)
chr6	25754699	25781199	6p22-p21.3	6p22.2	604216	SLC17A4	Solute carrier family 17 (sodium phosphate), member 4	SLC17A4	10050	ENSG00000146039			Slc17a4 (MGI:2442850)
chr6	25844856	25874243	6p21.3	6p22.2	611034	SLC17A3, NPT4, UAQTL4, GOUT4	Solute carrier family 17 (sodium phosphate cotransporter), member 3	SLC17A3	10786	ENSG00000124564		[Uric acid concentration, serum, QTL4], 612671 (3), Autosomal dominant; {Gout susceptibility 4}, 612671 (3), Autosomal dominant	Slc17a3 (MGI:2389216)
chr6	25912754	25930691	6p21.3	6p22.2	611049	SLC17A2, NPT3	Solute carrier family 17 (sodium phosphate cotransporter), member 2	SLC17A2	10246	ENSG00000112337			Slc17a2 (MGI:2443098)
chr6	26017032	26017787	6p21.3	6p22.2	142709	H1-1, HIST1H1A, H1F1	H1.1 linker histone, cluster member	H1-1	3024	ENSG00000124610			H1f1 (MGI:1931523)
chr6	26020451	26020958	6p21.3	6p22.2	602810	H3C1, HIST1H3A, H3FA	H3 clustered histone 1	H3C1	8350	ENSG00000275714			H3c1,H3c10,H3c11,H3c4,H3c8 (MGI:2145541,MGI:2448322,MGI:2448349,MGI:2448350,MGI:2668828)
chr6	26021649	26022050	6p21.3	6p22.2	602822	H4C1, HIST1H4A, H4FA	H4 clustered histone 1	H4C1	8359	ENSG00000278637			H4c4 (MGI:2448423)
chr6	26026896	26027283	6p21.3	6p22.2	602829	H4C2, HIST1H4B, H4FI	H4 clustered histone 2	H4C2	8366	ENSG00000278705			H4c16 (MGI:2448443)
chr6	26031589	26032099	6p21.3	6p22.2	602819	H3C2, HIST1H3B, H3FL	H3 clustered histone 2	H3C2	8358	ENSG00000286522	in major cluster on 6p		H3c1,H3c10,H3c11,H3c13,H3c8 (MGI:2145541,MGI:2448349,MGI:2448350,MGI:2448351,MGI:2668828)
chr6	26033092	26033618	6p21.3	6p22.2	602795	H2AC4, HIST1H2AB, H2AFM	H2A clustered histone 4	H2AC4	8335	ENSG00000278463			H2ac11,H2ac22,H2ac23,H2ac24,H2ac4,H2ac6,H2ac7,H2ac8 (MGI:2448287,MGI:2448289,MGI:2448290,MGI:2448293,MGI:2448300,MGI:2448302,MGI:2448306,MGI:3710573)
chr6	26043227	26043713	6p21.3	6p22.2	602803	H2BC3, HIST1H2BB, H2BFF	H2B clustered histone 3	H2BC3	3018	ENSG00000276410			H2bc3 (MGI:2448377)
chr6	26045384	26045869	6p21.3	6p22.2	602812	H3C3, HIST1H3C, H3FC	H3 clustered histone 3	H3C3	8352	ENSG00000287080			H3c1,H3c10,H3c11,H3c14,H3c8 (MGI:2145541,MGI:2448349,MGI:2448350,MGI:2448355,MGI:2668828)
chr6	26055740	26056470	6p21.3	6p22.2	142710	H1-2, HIST1H1C, H1F2	H1.2 linker histone, cluster member	H1-2	3006	ENSG00000187837			H1f2 (MGI:1931526)
chr6	26087429	26098343	6p22.2	6p22.2	613609	HFE, HLA-H, HFE1	Homeostatic iron regulator	HFE	3077	ENSG00000010704		Hemochromatosis, type 1, 235200 (3), Autosomal recessive	Hfe (MGI:109191)
chr6	26103933	26104337	6p21.3	6p22.2	602827	H4C3, HIST1H4C, H4FG, TEBIVANED1	H4 clustered histone 3	H4C3	8364	ENSG00000197061		Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1, 619758 (3), Autosomal dominant	H4c14 (MGI:2140113)
chr6	26107412	26108135	6p21.3	6p22.2	142712	H1-6, HIST1H1T, H1FT	H1.6 linker histone, cluster member	H1-6	3010	ENSG00000187475			H1f6 (MGI:1888530)
chr6	26113170	26123926	6p21.3	6p22.2	602847	H2BC4, HIST1H2BC, H2BFL	H2B clustered histone 4	H2BC4	8347	ENSG00000180596			H2bc8 (MGI:2448386)
chr6	26124172	26124690	6p21.3	6p22.2	602794	H2AC6, HIST1H2AC, H2AFL	H2A clustered histone 6	H2AC6	8334	ENSG00000180573			H2ac23 (MGI:2448302)
chr6	26156329	26157115	6p21.3	6p22.2	142220	H1-4, HIST1H1E, H1F4, RMNS	H1.4 linker histone, cluster member	H1-4	3008	ENSG00000168298		Rahman syndrome, 617537 (3), Autosomal dominant	H1f4 (MGI:1931527)
chr6	26158121	26171349	6p21.3	6p22.2	602799	H2BC5, HIST1H2BD, H2BFB	H2B clustered histone 5	H2BC5	3017	ENSG00000158373			H2bc14,H2bc27,H2bc4,H2bc6,H2bc8 (MGI:1915274,MGI:1925553,MGI:2448380,MGI:2448386,MGI:2448404)
chr6	26183761	26184230	6p21.3	6p22.2	602805	H2BC6, HIST1H2BE, H2BFH	H2B clustered histone 6	H2BC6	8344	ENSG00000274290			H2bc13,H2bc4,H2bc6,H2bc8 (MGI:1915274,MGI:2448380,MGI:2448386,MGI:2448403)
chr6	26188710	26189112	6p21.3	6p22.2	602823	H4C4, HIST1H4D, H4FB	H4 clustered histone 4	H4C4	8360	ENSG00000277157			H4c17 (MGI:2448441)
chr6	26196784	26199293	6p21.3	6p22.2	602811	H3C4, HIST1H3D, H3FB	H3 clustered histone 4	H3C4	8351	ENSG00000197409			H3c1 (MGI:2668828)
chr6	26198784	26199293	6p21.3	6p22.2	602792	H2AC7, HIST1H2AD, H2AFG	H2A clustered histone 7	H2AC7	3013	ENSG00000196866			H2ac4 (MGI:2448306)
chr6	26199516	26199988	6p21.3	6p22.2	602804	H2BC7, HIST1H2BF, H2BFG	H2B clustered histone 7	H2BC7	8343	ENSG00000277224			H2bc6 (MGI:2448380)
chr6	26204610	26205021	6p21.3	6p22.2	602830	H4C5, HIST1H4E, H4FJ, TEBIVANED3	H4 clustered histone 5	H4C5	8367	ENSG00000276966		Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3, 619950 (3), Autosomal dominant	H4c1,H4c11,H4c12,H4c14,H4c16,H4c17,H4c18,H4c2,H4c3,H4c4,H4c6,H4c8,H4c9 (MGI:2140113,MGI:2448419,MGI:2448420,MGI:2448421,MGI:2448423,MGI:2448425,MGI:2448427,MGI:2448432,MGI:2448436,MGI:2448439,MGI:2448441,MGI:2448443,MGI:4843992)
chr6	26216200	26216688	6p21.3	6p22.2	602798	H2BC8, HIST1H2BG, H2BFA	H2B clustered histone 8	H2BC8	8339	ENSG00000273802			H2bc4,H2bc6,H2bc7,H2bc8 (MGI:1915274,MGI:2448380,MGI:2448383,MGI:2448386)
chr6	26216921	26217437	6p21.3	6p22.2	602786	H2AC8, HIST1H2AE, H2AFA	H2A clustered histone 8	H2AC8	3012	ENSG00000277075			H2ac13,H2ac22,H2ac23,H2ac24,H2ac4,H2ac6,H2ac7,H2ac8 (MGI:2448287,MGI:2448289,MGI:2448290,MGI:2448300,MGI:2448302,MGI:2448306,MGI:2448457,MGI:3710573)
chr6	26224178	26227473	6p21.3	6p22.2	602813	H3C6, HIST1H3E, H3FD, H3.1	H3 clustered histone 6	H3C6	8353	ENSG00000274750	in cluster of 35 histone genes		H3c10 (MGI:2448349)
chr6	26234212	26234987	6p21.3	6p22.2	142210	H1-3, HIST1H1D, H1F3	H1.3 linker histone, cluster member	H1-3	3007	ENSG00000124575			H1f3 (MGI:107502)
chr6	26240393	26240793	6p21.3	6p22.2	602824	H4C6, HIST1H4F, H4FC	H4 clustered histone 6	H4C6	8361	ENSG00000274618			H4c3 (MGI:2448421)
chr6	26246611	26246996	6p21.3	6p22.2	602832	H4C7, HIST1H4G, H4FL	H4 clustered histone 7	H4C7	8369	ENSG00000275663			
chr6	26250142	26250635	6p21.3	6p22.2	602816	H3C7, HIST1H3F	H3 clustered histone 7	H3C7	8968	ENSG00000277775			H3c11 (MGI:2448350)
chr6	26251614	26252075	6p21.3	6p22.2	602806	H2BC9, HIST1H2BH, H2BFJ	H2B clustered histone 9	H2BC9	8345	ENSG00000275713			H2bc23,H2bc24,H2bc9 (MGI:2448387,MGI:3702051,MGI:3710645)
chr6	26270918	26271413	6p21.3	6p22.2	602815	H3C8, HIST1H3G, H3FH	H3 clustered histone 8	H3C8	8355	ENSG00000273983			H3c1,H3c10,H3c11,H3c15,H3c8 (MGI:2145541,MGI:2448349,MGI:2448350,MGI:2448357,MGI:2668828)
chr6	26272931	26273412	6p21.3	6p22.2	602807	H2BC10, HIST1H2BI, H2BFK	H2B clustered histone 10	H2BC10	8346	ENSG00000278588			H2bc4 (MGI:1915274)
chr6	26285126	26285534	6p21.3	6p22.2	602828	H4C8, HIST1H4H, H4FH	H4 clustered histone 8	H4C8	8365	ENSG00000158406			H4c12 (MGI:2448439)
chr6	26286526	26286597	6p23-q12	6p22.2	180621	TRNAM1, TRMI2, TRM2, RNTMT1	tRNA methionine-1	TRX-CAT1-2	7210				
chr6	26299677	26299749	6p22.3-p21.1	6p22.2	601432	TRR-TCG4-1, TRNAR3, TRR3	tRNA arginine (anticodon TCG) 4-1	TRR-TCG4-1	7232				
chr6	26365169	26378320	6p22.1	6p22.2	613594	BTN3A2, BTF4	Butyrophilin, subfamily 3, member A2	BTN3A2	11118	ENSG00000186470			
chr6	26383108	26394874	6p22.1	6p22.2	613591	BTN2A2, BTF2	Butyrophilin, subfamily 2, member A2	BTN2A2	10385	ENSG00000124508			Btn2a2 (MGI:3606486)
chr6	26402275	26415208	6p22.1	6p22.2	613593	BTN3A1, BTF5, CD277	Butyrophilin, subfamily 3, member A1	BTN3A1	11119	ENSG00000026950			
chr6	26421391	26430588	6p22.1	6p22.2	613592	BTN2A3	Butyrophilin, subfamily 2, member A3	BTN2A3P	54718	ENSG00000291104			
chr6	26440504	26453415	6p22.1	6p22.2	613595	BTN3A3, BTF3	Butyrophilin, subfamily 3, member A3	BTN3A3	10384	ENSG00000111801			
chr6	26457955	26476622	6p22.1	6p22.2	613590	BTN2A1, BTF1	Butyrophilin, subfamily 2, member A1	BTN2A1	11120	ENSG00000112763			Btn2a2 (MGI:3606486)
chr6	26500303	26510425	6p22.1	6p22.2	601610	BTN1A1, BTN	Butyrophilin	BTN1A1	696	ENSG00000124557			Btn1a1 (MGI:103118)
chr6	26537498	26537570	6p22.2	6p22.2	615305	TRNAR2	Transfer RNA arginine 2	TRR-ACG1-2	7231				
chr6	26538054	26538126	6p22.2	6p22.2	615306	TRNAV21	Transfer RNA valine 21	TRV-CAC1-6	100189227				
chr6	26596953	26600739	6p22.2	6p22.2	618750	ABT1	Activator of basal transcription 1	ABT1	29777	ENSG00000146109			Abt1 (MGI:1353636)
chr6	26634383	26659746	6p22.1	6p22.2	610847	ZNF322, ZNF489	Zinc finger protein 322	ZNF322	79692	ENSG00000181315			Zfp322a (MGI:2442566)
chr6	27100001	30500000	6p22.1		612892	STQTL18	Stature quantitative trait locus 18		100302683		associated with rs10946808	{Stature QTL 18}, 612892 (2)	
chr6	27132316	27132795	6p22-p21.3	6p22.1	615044	H2BC11, HIST1H2BJ, H2BJ	H2B clustered histone 11	H2BC11	8970	ENSG00000124635			H2bc21 (MGI:2448415)
chr6	27133043	27133535	6p22-p21.3	6p22.1	615012	H2AC11, HIST1H2AG, H2AG, H2AFP	H2A clustered histone 11	H2AC11	8969	ENSG00000196787			H2ac22 (MGI:2448300)
chr6	27138293	27146858	6p22-p21.3	6p22.1	615045	H2BC12, HIST1H2BK, H2BK	H2B clustered histone 12	H2BC12	85236	ENSG00000197903			H2bc12 (MGI:2448399)
chr6	27139282	27139678	6p21.3	6p22.1	602833	H4C9, HIST1H4I, H4FM, H4M, TEBIVANED4	H4 clustered histone 9	H4C9	8294	ENSG00000276180		Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951 (3), Autosomal dominant	H4c8 (MGI:2448427)
chr6	27147106	27147562	6p22-p21.3	6p22.1	615013	H2AC12, HIST1H2AH, H2AH	H2A clustered histone 12	H2AC12	85235	ENSG00000274997			H2ac12 (MGI:2448295)
chr6	27235509	27235581	6p22.1	6p22.1	615307	TRNAV12	Transfer RNA valine 12	TRV-AAC5-1	100189014				
chr6	27247701	27256620	6p22-p21.3	6p22.1	607169	PRSS16, TSSP	Protease, serine, 16	PRSS16	10279	ENSG00000112812			Prss16 (MGI:1859181)
chr6	27404006	27473105	6p21.3	6p22.1	602277	ZNF184	Zinc finger protein-184	ZNF184	7738	ENSG00000096654			Zfp184 (MGI:1922244)
chr6	27495814	27495895	6p22.1	6p22.1	189910	TRS-AGA2-3, TRNAS2, TRS2, TRNS	tRNA serine (anticodon AGA) 2-3	TRS-AGA2-3	23437				
chr6	27505828	27505909	6p22.1	6p22.1	606172	TRS-TGA4-1, TRNAS3, TRS3	tRNA serine (anticodon TGA) 4-1	TRS-TGA4-1	23540				
chr6	27545689	27545770	6p22.1	6p22.1	606171	TRS-TGA2-1, TRNAS1, TRS1	tRNA serine (anticodon TGA) 2-1	TRS-TGA2-1	94017				
chr6	27681106	27681178	6p22.1	6p22.1	615308	TRNAV17	Transfer RNA valine 17	TRV-AAC4-1	100189161				
chr6	27684695	27684768	6p22.1	6p22.1	615309	TRNAT15	Transfer RNA threonine 15	TRT-AGT2-2	100189340				
chr6	27807479	27807929	6p22-p21.3	6p22.1	602800	H2BC13, HIST1H2BL, H2BFC	H2B clustered histone 13	H2BC13	8340	ENSG00000185130			H2bc11,H2bc13,H2bc15,H2bc23,H2bc24,H2bc7 (MGI:2448383,MGI:2448388,MGI:2448403,MGI:2448407,MGI:3702051,MGI:3710645)
chr6	27808173	27808667	6p22-p21.3	6p22.1	602787	H2AC13, HIST1H2AI, H2AFC	H2A clustered histone 13	H2AC13	8329	ENSG00000196747			
chr6	27810051	27810536	6p22-p21.3	6p22.1	602818	H3C10, HIST1H3H, H3FK	H3 clustered histone 10	H3C10	8357	ENSG00000278828	in minor cluster on 6p		H3c1,H3c10,H3c11,H3c2,H3c8 (MGI:2145541,MGI:2448319,MGI:2448349,MGI:2448350,MGI:2668828)
chr6	27814302	27814777	6p22-p21.3	6p22.1	602791	H2AC14, HIST1H2AJ, HIST1H2AK, H2AFE	H2A clustered histone 14	H2AC14	8331	ENSG00000276368			H2ac10 (MGI:2448309)
chr6	27815022	27815489	6p22-p21.3	6p22.1	602802	H2BC14, HIST1H2BM, H2BFE	H2B clustered histone 14	H2BC14	8342	ENSG00000273703			H2bc15,H2bc3 (MGI:2448377,MGI:2448407)
chr6	27824092	27824480	6p22-p21.3	6p22.1	602826	H4C11, HIST1H4J, H4FE, TEBIVANED2	H4 clustered histone 11	H4C11	8363	ENSG00000197238	mutation identified in 1 TEBIVANED2 patient	?Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2, 619759 (3), Autosomal dominant	H4c6 (MGI:2448425)
chr6	27831174	27831560	6p22-p21.3	6p22.1	602825	H4C12, HIST1H4K, H4FD	H4 clustered histone 12	H4C12	8362	ENSG00000273542			H4c11 (MGI:2448436)
chr6	27837880	27838375	6p22-p21.3	6p22.1	602788	H2AC15, HIST1H2AK, HIST1H2AI, H2AFD	H2A clustered histone 15	H2AC15	8330	ENSG00000275221			H2ac6 (MGI:2448287)
chr6	27838569	27839110	6p22-p21.3	6p22.1	602801	H2BC15, HIST1H2BN, H2BFD	H2B clustered histone 15	H2BC15	8341	ENSG00000233822			H2bc14,H2bc3 (MGI:2448377,MGI:2448404)
chr6	27865317	27865798	6p22-p21.3	6p22.1	602793	H2AC16, HIST1H2AL, H2AFI	H2A clustered histone 16	H2AC16	8332	ENSG00000276903			H2ac8 (MGI:2448290)
chr6	27866792	27867588	6p22-p21.3	6p22.1	142711	H1-5, HIST1H1B, H1F5	H1.4 linker histone, cluster member	H1-5	3009	ENSG00000184357	~2Mb centromeric of H1F1 cluster		H1f5 (MGI:1861461)
chr6	27871845	27872346	6p22-p21.3	6p22.1	602814	H3C11, HIST1H3I, H3FF	H3 clustered histone 11	H3C11	8354	ENSG00000275379	in cluster of 16 histone genes centromeric of major cluster		H3c1,H3c10,H3c11,H3c6,H3c8 (MGI:2145541,MGI:2448326,MGI:2448349,MGI:2448350,MGI:2668828)
chr6	27873148	27873534	6p22-p21.3	6p22.1	602831	H4C13, HIST1H4L, H4FK	H4 clustered histone 13	H4C13	8368	ENSG00000275126			H4c18 (MGI:4843992)
chr6	27890315	27890826	6p22-p21.3	6p22.1	602817	H3C12, HIST1H3J, H3FJ	H3 clustered histone 12	H3C12	8356	ENSG00000197153	in 2nd cluster on 6p		H3c8 (MGI:2145541)
chr6	27892699	27893185	6p22-p21.3	6p22.1	602796	H2AC17, HIST1H2AM, H2AFN	H2A clustered histone 17	H2AC17	8336	ENSG00000278677			H2ac7 (MGI:2448289)
chr6	27893425	27893891	6p22-p21.3	6p22.1	602808	H2BC17, HIST1H2BO, H2BFN	H2B clustered histone 17	H2BC17	8348	ENSG00000274641			H2bc22 (MGI:2448409)
chr6	28080282	28089563	6p21.3	6p22.1	600834	ZNF165, LD65	Zinc finger protein-165	ZNF165	7718	ENSG00000197279			
chr6	28124609	28130082	6p22	6p22.1	618544	ZSCAN16, ZNF435	Zinc finger- and SCAN domain-containing protein 16	ZSCAN16	80345	ENSG00000196812			
chr6	28141635	28159460	6p21.3	6p22.1	602240	ZNF192	Zinc finger protein-192	ZKSCAN8	7745	ENSG00000198315			Zkscan8 (MGI:1913815)
chr6	28225240	28233487	6p21.3	6p22.1	602246	ZNF193	Zinc finger protein-193	ZSCAN9	7746	ENSG00000137185			
chr6	28241697	28259211	6p21.33-p21.31	6p22.1	611643	ZKSCAN4, ZNF307	Zinc finger with KRAB and SCAN domains 4	ZKSCAN4	387032	ENSG00000187626			Zkscan3,Zkscan4 (MGI:1919989,MGI:3649412)
chr6	28267143	28278204	6p22.1	6p22.1	616474	ZSCAN26, SREZBP	Zinc finger- and SCAN domain-containing protein 26	ZSCAN26	7741	ENSG00000197062			Zscan26 (MGI:3531417)
chr6	28324737	28356271	6p22.3-p22.1	6p22.1	610794	ZNF323	Zinc finger protein 323	ZSCAN31	64288	ENSG00000235109			
chr6	28349878	28369172	6p22.1	6p22.1	612791	ZKSCAN3, ZNF306	Zinc finger protein with KRAB and SCAN domains 3	ZKSCAN3	80317	ENSG00000189298			Zkscan3 (MGI:1919989)
chr6	28378821	28399747	6p22.2-p21.3	6p22.1	603978	ZSCAN12, ZNF96, KIAA0426	Zinc finger- and SCAN domain-containing protein 12	ZSCAN12	9753	ENSG00000158691			Zscan12 (MGI:1099444)
chr6	28503296	28515793	6p22.1	6p22.1	607913	GPX6	Glutathione peroxidase 6	GPX6	257202	ENSG00000198704			Gpx6 (MGI:1922762)
chr6	28525881	28534955	6p22.1	6p22.1	603435	GPX5	Glutathione peroxidase 5 (epididymal)	GPX5	2880	ENSG00000224586			Gpx5 (MGI:104886)
chr6	28570535	28616202	6p22.1	6p22.1	615254	SCAND3, ZBED9, BUSTER4, KIAA1925	SCAN domain-containing protein 3	SCAND3	114821	ENSG00000232040			
chr6	28802800	28802870	6p22.3-p21.1	6p22.1	601431	TRA-TGC7-1, TRNAA1	tRNA alanine (anticodon TGC) 7-1	TRA-TGC7-1	7154				
chr6	28903002	28923985	6p22	6p22.1	602165	TRIM27, RFP	Tripartite motif-containing 27	TRIM27	5987	ENSG00000204713			Trim27 (MGI:97904)
chr6	29108058	29114770	6p22.1	6p22.1	615016	OR2J3, C3HEXS	Olfactory receptor, family 2, subfamily J, member 3	OR2J3	442186	ENSG00000204701		[C3HEX, ability to smell], 615082 (3), Autosomal dominant	Or2j3 (MGI:2177520)
chr6	29486697	29487956	6p21	6p22.1	607235	MAS1L, MRG	MAS1 oncogene-like	MAS1L	116511	ENSG00000204687			
chr6	29555515	29559732	6p21.3	6p22.1	606050	UBD, FAT10	Ubiquitin D	UBD	10537	ENSG00000213886			Ubd (MGI:1344410)
chr6	29585121	29590500	6p21.3	6p22.1	600578	OR2H3, OLFR2	Olfactory receptor, family 2, subfamily H, member 3 (olfactory receptor 2)	OR2H2	7932	ENSG00000204657	in class I MHC region		Or2h2,Or2h2b,Or2h2c (MGI:2177473,MGI:2177475,MGI:3030587)
chr6	29602238	29633183	6p21.3	6p22.1	603540	GABBR1, GABABR1, NEDLC	Gamma-aminobutyric acid B receptor 1	GABBR1	2550	ENSG00000204681		Neurodevelopmental disorder with language delay and variable cognitive abnormalities, 620502 (3), Autosomal dominant	Gabbr1 (MGI:1860139)
chr6	29657092	29672365	6p21.3	6p22.1	159465	MOG, NRCLP7	Myelin-oligodendrocyte glycoprotein	MOG	4340	ENSG00000204655	60kb telomeric to HLA-F; mutation identified in 1 NRCLP7 family	?Narcolepsy 7, 614250 (3), Autosomal dominant	Mog (MGI:97435)
chr6	29672392	29681152	6p22.1	6p22.1	612192	ZFP57, TNDM1	ZFP57 zinc finger protein	ZFP57	346171	ENSG00000204644		Diabetes mellitus, transient neonatal 1, 601410 (3), Autosomal recessive, Autosomal dominant	Zfp57 (MGI:99204)
chr6	29723434	29738532	6p21.3	6p22.1	143110	HLA-F, HLA-CDA12, HLAF	Major histocompatibility complex, class I, F	HLA-F	3134	ENSG00000204642			H2-D1,H2-K1,H2-M10.1,H2-M10.2,H2-M10.4,H2-M10.6,H2-M11,H2-M2,H2-M5,H2-Q1,H2-Q10,H2-Q2,H2-Q6,H2-Q7,H2-T22 (MGI:1276522,MGI:1276525,MGI:1276527,MGI:2676637,MGI:2687364,MGI:95896,MGI:95904,MGI:95914,MGI:95917,MGI:95928,MGI:95929,MGI:95931,MGI:95935,MGI:95936,MGI:95956)
chr6	29826474	29831021	6p21.3	6p22.1	142871	HLA-G	HLA-G histocompatibility antigen, class I	HLA-G	3135	ENSG00000204632		{Asthma, susceptibility to}, 600807 (2), Autosomal dominant	H2-D1,H2-K1,H2-M10.1,H2-M10.2,H2-M10.4,H2-M10.6,H2-M11,H2-M2,H2-M3,H2-M5,H2-Q1,H2-Q10,H2-Q2,H2-Q6,H2-Q7,H2-T22 (MGI:1276522,MGI:1276525,MGI:1276527,MGI:2676637,MGI:2687364,MGI:95896,MGI:95904,MGI:95914,MGI:95915,MGI:95917,MGI:95928,MGI:95929,MGI:95931,MGI:95935,MGI:95936,MGI:95956)
chr6	29942532	29945870	6p21.3	6p22.1	142800	HLA-A	Major histocompatibility complex, class I, A	HLA-A	3105	ENSG00000206503		{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)	H2-D1,H2-K1,H2-Q1,H2-Q10,H2-Q2,H2-Q4,H2-Q6,H2-Q7 (MGI:95896,MGI:95904,MGI:95928,MGI:95929,MGI:95931,MGI:95933,MGI:95935,MGI:95936)
chr6	29975115	29978403	6p21.3	6p22.1	615797	HCG9, HCGIX, HCGIX4	HLA complex group 9, noncoding	HCG9	10255	ENSG00000204625			
chr6	30001011	30061189	6p22.1	6p22.1	615714	ZNRD1AS1, TCTEX4, HTEX4	ZNRD1 antisense RNA 1	POLR1HASP	80862	ENSG00000293508			
chr6	30060062	30064907	6p22.1	6p22.1	607525	POLR1H, ZNRD1, TCTEX6, HTEX6	Polymerase I, RNA, subunit H	POLR1H	30834	ENSG00000066379			Polr1h (MGI:1913386)
chr6	30061265	30070333	6p21.3	6p22.1	606670	PPP1R11, TCTEX5	Protein phosphatase 1, regulatory subunit 11	PPP1R11	6992	ENSG00000204619			Ppp1r11 (MGI:1923747)
chr6	30070270	30075769	6p21.3	6p22.1	607524	RNF39, HZFW, HZF, LIRF	RING finger protein 39	RNF39	80352	ENSG00000204618			Rnf39 (MGI:2156378)
chr6	30102897	30113090	6p23-p21	6p22.1	609316	TRIM31, HCGI	Tripartite motif-containing protein 31	TRIM31	11074	ENSG00000204616			Trim31 (MGI:2385051)
chr6	30136140	30148735	6p22.1	6p22.1	616976	TRIM40, RNF35	Tripartite motif-containing protein 40	TRIM40	135644	ENSG00000204614			Trim40 (MGI:2684881)
chr6	30151943	30164009	6p21.3	6p22.1	605701	RNF9, RFB30, HERF1	RING finger protein-9	TRIM10	10107	ENSG00000204613			Trim10 (MGI:1338757)
chr6	30184455	30213406	6p21.3	6p22.1	600830	ZNF173	Zinc finger protein-173	TRIM26	7726	ENSG00000234127			Trim26 (MGI:1337056)
chr6	30326469	30343729	6p22.1-p21.3	6p22.1	605700	TRIM39, RNF23, TFP	Tripartite motif-containing 39	TRIM39	56658	ENSG00000204599			Trim39 (MGI:1890659)
chr6	30345156	30346857	6p21	6p22.1	612524	RPP21	Ribonuclease P/MRP subunit p21	RPP21	79897	ENSG00000241370			Rpp21 (MGI:1914926)
chr6	30489509	30494194	6p21.3	6p22.1	143010	HLA-E	Major histocompatibility complex, class I, E	HLA-E	3133	ENSG00000204592			H2-D1,H2-K1,H2-M1,H2-M10.1,H2-M10.2,H2-M10.3,H2-M10.4,H2-M10.5,H2-M10.6,H2-M11,H2-M2,H2-M5,H2-M9,H2-Q1,H2-Q10,H2-Q2,H2-Q4,H2-Q6,H2-Q7,H2-T10,H2-T22,H2-T23,H2-T3 (MGI:1276522,MGI:1276524,MGI:1276525,MGI:1276526,MGI:1276527,MGI:1276570,MGI:2676637,MGI:2687364,MGI:95896,MGI:95904,MGI:95913,MGI:95914,MGI:95917,MGI:95928,MGI:95929,MGI:95931,MGI:95933,MGI:95935,MGI:95936,MGI:95942,MGI:95956,MGI:95957,MGI:95959)
chr6	30500001	36600000	6p21.3		107320	ATPLS	Antiphospholipid syndrome, familial		100499532		possible linkage with HLA-DRB1*14	?Antiphospholipid syndrome, familial, 107320 (2), Autosomal dominant	
chr6	30500001	40500000	6p21.3-p21.2		153380	CP20	Lymphocyte cytosolic protein, molecular weight 20kD		7938				
chr6	30500001	36600000	6p21.3		612862	CTEPH1	Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to		100302516		associated with DPB1*0202	{Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}, 612862 (2)	
chr6	30500001	36600000	6p21.3		608645	DFNA31	Deafness, autosomal dominant 31		347737		between D6S276 and D6S273	Deafness, autosomal dominant 31, 608645 (2), Autosomal dominant	
chr6	30500001	46200000	6p21		608816	EJM3	Epilepsy, juvenile myoclonic 3		449018			Epilepsy, juvenile myoclonic 3, 608816 (2)	
chr6	30500001	32100000	6p21.33		613024	FL1	Follicular lymphoma, susceptibility to, 1		100306940		associated with rs6457327	{Follicular lymphoma, susceptibility to, 1}, 613024 (2)	
chr6	30500001	36600000	6p21.3		608710	GPA, WG	Granulomatosis with polyangiitis		474168			Granulomatosis with polyangiitis, 608710 (2)	
chr6	30500001	36600000	6p21.3		612735	HLA-DRB3, HLA-DR52	Major histocompatibility complex, class II, DR beta-3	HLA-DRB3	3125				H2-Eb1,H2-Eb2 (MGI:95901,MGI:95902)
chr6	30500001	36600000	6p21.3		604519	IBD3	Inflammatory bowel disease 3		30829			{Inflammatory bowel disease 3}, 604519 (2), Autosomal dominant	
chr6	30500001	36600000	6p21.3		222100	IDDM1	Insulin-dependent diabetes mellitus-1				linkage or association, with HLA	{Diabetes mellitus, insulin-dependent-1}, 222100 (2), Autosomal recessive	
chr6	30500001	36600000	6p21.3		137100	IGAD1	Immunoglobulin A deficiency		10986			Immunoglobulin A deficiency, 137100 (2), Autosomal recessive, Autosomal dominant, Isolated cases	
chr6	30500001	36600000	6p21.3		146820	IGAT	Immune response to synthetic polypeptide--IRGAT		7927		in B/D segment		
chr6	30500001	36600000	6p21.3		147080	IGLP1	Immune response to synthetic polypeptides-1		7925				
chr6	30500001	36600000	6p21.3		147090	IGLP2	Immune response to synthetic polypeptides-2		7926				
chr6	30500001	36600000	6p21.3		146850	ISCW	Immune suppression to streptococcal antigen		7928		HLA-linked		
chr6	30500001	40500000	6p21.3-p21.2		150270	LAP	Laryngeal adductor paralysis		7939		?linkage to HLA and GLO1	?Laryngeal adductor paralysis, 150270 (2), Autosomal dominant	
chr6	30500001	46200000	6p21		601086	LATD	Laterality defects, autosomal dominant		207115		max lod 2.95 at theta = 0		
chr6	30500001	32100000	6p21.33		612593	LNCR4	Lung cancer susceptibility 4		100271693		associated with rs3117582 and rs3131379	{Lung cancer susceptibility 4}, 612593 (2)	
chr6	30500001	36600000	6p21.3		614692	MBNP	Membranous nephropathy, susceptibility to		101154649			{?Membranous nephropathy, susceptibility to}, 614692 (2)	
chr6	30500001	40500000	6p21.3-p21.2		614644	MPVQTL4	Mean platelet volume quantitative trait locus 4		100887753		associated with rs210134	Mean platelet volume QTL4, 614644 (2)	
chr6	30500001	36600000	6p21.3		607085	MYAS1	Myasthenia gravis with thymus hyperplasia		246750			Myasthenia gravis with thymus hyperplasia, 607085 (2)	
chr6	30500001	36600000	6p21.3		272370	NKS1, EC1	Susceptibility to lysis by alloreactive natural killer cells		4819			{Lysis by alloreactive natural killer cells, susceptibility to}, 272370 (2), Autosomal recessive	
chr6	30500001	36600000	6p21.3		161550	NPCA2	Nasopharyngeal carcinoma, susceptibility to, 2		100312951		associated with rs2517713 and rs2975042	{Nasopharyngeal carcinoma, susceptibility to, 2}, 161550 (2)	
chr6	30500001	36600000	6p21.3		613007	PBC2	Biliary cirrhosis, primary, 2		100303716		associated with rs2856683	{Biliary cirrhosis, primary, 2}, 613007 (2)	
chr6	30500001	36600000	6p21.3		600089	PBCA	Pancreatic beta cell, agenesis of		7962		uniparental disomy	?Diabetes mellitus, insulin-dependent, neonatal, 600089 (2), Autosomal recessive	
chr6	30500001	36600000	6p21.3		604809	PBLT	Panbronchiolitis, diffuse					Panbronchiolitis, diffuse, 604809 (2), Multifactorial	
chr6	30500001	36600000	6p21.3		614590	PDCOS	Podoconiosis, susceptibility to		100885774			{Podoconiosis, susceptibility to}, 614590 (2)	
chr6	30500001	46200000	6p21		611185	RLS6	Restless legs syndrome, susceptibility to, 6		100302512		associated with rs9296249 and rs9357271	{Restless legs syndrome 6}, 611185 (2)	
chr6	30500001	36600000	6p21.3		179450	RWS	Ragweed sensitivity		7937		?linkage or association, with HLA	?Ragweed sensitivity, 179450 (2), Autosomal dominant	
chr6	30500001	36600000	6p21.3		193200	VAMAS6	Vitiligo-associated multiple autoimmune disease susceptibility 6		246319		possible second locus on 1p31.3-p32.2	{Vitiligo-associated multiple autoimmune disease susceptibility 6}, 193200 (2), Autosomal recessive	
chr6	30500001	36600000	6p21.3		603282	ZNF204	Zinc finger protein-204	ZNF204P	7754	ENSG00000291112	?pseudogene		
chr6	30541381	30556489	6p21.3	6p21.33	143024	GNL1, HSR1	Guanine nucleotide-binding protein-like 1	GNL1	2794	ENSG00000204590			Gnl1 (MGI:95764)
chr6	30571442	30591522	6p21.33	6p21.33	603429	ABCF1, ABC50	ATP-binding cassette 50, TNF-alpha stimulated	ABCF1	23	ENSG00000204574			Abcf1 (MGI:1351658)
chr6	30584332	30584417	6p21.33	6p21.33	611619	MIR877, MIRN877	Micro RNA 877	MIR877	100126314	ENSG00000216101			Mir877 (MGI:3718567)
chr6	30600413	30617243	6p21.3	6p21.33	603771	PPP1R10, PNUTS	Protein phosphatase 1, regulatory subunit 10	PPP1R10	5514	ENSG00000204569			Ppp1r10 (MGI:1289273)
chr6	30617840	30626392	6p21.3	6p21.33	611982	MRPS18B, MRPS18-2	Mitochondrial ribosomal protein S18B	MRPS18B	28973	ENSG00000204568	pseudogenes on chromosomes 1 and 2		Mrps18b (MGI:1914223)
chr6	30626874	30646821	6p21.33	6p21.33	615556	ATAT1, MEC17, C6orf134	Alpha-tubulin acetyltransferase 1	ATAT1	79969	ENSG00000137343			Atat1 (MGI:1913869)
chr6	30653127	30673006	6p21.3	6p21.33	603405	DHX16, DDX16, DBP2, PRP8, NMOAS	DEAH-box helicase 16	DHX16	8449	ENSG00000204560		Neuromuscular disease and ocular or auditory anomalies with or without seizures, 618733 (3), Autosomal dominant	Dhx16 (MGI:1916442)
chr6	30676389	30688391	6p21.3	6p21.33	610990	PPP1R18, KIAA1949	Protein phosphatase 1 regulatory subunit 18	PPP1R18	170954	ENSG00000146112			Ppp1r18 (MGI:1923698)
chr6	30688049	30691420	6p21.33	6p21.33	620017	NRM	Nurim	NRM	11270	ENSG00000137404			Nrm (MGI:2146855)
chr6	30699807	30717281	6pter-p21.3	6p21.33	607593	MDC1, NFBD1, KIAA0170	Mediator of DNA damage checkpoint protein 1	MDC1	9656	ENSG00000137337			Mdc1 (MGI:3525201)
chr6	30720352	30725422	6p21.3	6p21.33	191130	TUBB, TUBB5, M40, CDCBM6, CSCSC1	Tubulin, beta polypeptide	TUBB	203068	ENSG00000196230		Symmetric circumferential skin creases, congenital, 1, 156610 (3), Autosomal dominant; Cortical dysplasia, complex, with other brain malformations 6, 615771 (3), Autosomal dominant	Tubb5 (MGI:107812)
chr6	30727709	30742687	6p21.3	6p21.33	606998	FLOT1	Flotillin 1	FLOT1	10211	ENSG00000137312			Flot1 (MGI:1100500)
chr6	30743199	30744547	6p21.3	6p21.33	602996	IER3, DIF2, IEX1, PRG1, GLY96	Immediate early response-3	IER3	8870	ENSG00000137331			Ier3 (MGI:104814)
chr6	30880970	30900156	6p21.3	6p21.33	600408	NEP, EDDR1, NTRK4, TRKE	Neuroepithelial tyrosine kinase	DDR1	780	ENSG00000204580			Ddr1 (MGI:99216)
chr6	30908207	30914106	6p21.3	6p21.33	601760	GTF2H4	General transcription factor IIH, polypeptide 4	GTF2H4	2968	ENSG00000213780			Gtf2h4 (MGI:1338799)
chr6	30914238	30926459	6p21.3	6p21.33	612802	VARS2, KIAA1885, COXPD20	Valyl-tRNA synthetase 2	VARS2	57176	ENSG00000137411		Combined oxidative phosphorylation deficiency 20, 615917 (3), Autosomal recessive	Vars2 (MGI:1916165)
chr6	30940973	30954221	6p21.3	6p21.33	613928	MUCL3, DPCR1, C6orf37	Mucin-like 3	MUCL3	135656	ENSG00000168631			Mucl3 (MGI:2685476)
chr6	30983718	30989903	6p21.33	6p21.33	616991	MUC21, C6orf205	Mucin 21, cell surface-associated	MUC21	394263	ENSG00000204544			Muc21 (MGI:3779983)
chr6	31005952	31035402	6p21.3	6p21.33	613917	MUC22, PBMUCL1	Mucin 22	MUC22	100507679	ENSG00000261272			
chr6	31053449	31059849	6p21.3	6p21.33	613918	HCG22, PBMUCL2	HLA complex group 22	HCG22	285834	ENSG00000228789			
chr6	31111223	31112575	6p21.33	6p21.33	611401	C6orf15, STG	Chromosome 6 open reading frame 15	C6orf15	29113	ENSG00000204542			2300002M23Rik (MGI:1916792)
chr6	31114800	31140092	6p21.3	6p21.33	613525	SEEK1, C6orf16, PSORS1C1	SEEK1 gene	PSORS1C1	170679	ENSG00000204540			
chr6	31115087	31120446	6p21.3	6p21.33	602593	CDSN, HTSS1, HYPT2, PSS1	Corneodesmosin	CDSN	1041	ENSG00000204539		Hypotrichosis 2, 146520 (3), Autosomal dominant; Peeling skin syndrome 1, 270300 (3), Autosomal recessive	Cdsn (MGI:3505689)
chr6	31137534	31139066	6p21.33	6p21.33	613526	SPR1, C6orf17	SPR1 gene	PSORS1C2	170680	ENSG00000204538			Psors1c2 (MGI:1930025)
chr6	31142439	31158197	6p21.3	6p21.33	605310	CCHCR1, HCR, C6orf18	Coiled-coil alpha-helical rod protein 1	CCHCR1	54535	ENSG00000204536	?role in psoriasis		Cchcr1 (MGI:2385321)
chr6	31158589	31164215	6p21.3	6p21.33	600912	TCF19, SC1	Transcription factor-19 (SC1)	TCF19	6941	ENSG00000137310			Tcf19 (MGI:103180)
chr6	31164337	31170682	6p21.3	6p21.33	164177	POU5F1, OTF3, OCT3	Pou domain, class 5, transcription factor 1 (octamer-binding transcription factor 3)	POU5F1	5460	ENSG00000204531	OTF3L on 12; ?related pseudogene on chr.8		Pou5f1 (MGI:101893)
chr6	31173735	31186317	6p21	6p21.33	618690	PSORS1C3	Psoriasis susceptibility 1 candidate 3, noncoding	PSORS1C3	100130889				
chr6	31268749	31272092	6p21.3	6p21.33	142840	HLA-C, PSORS1	Major histocompatibility complex, class I, C	HLA-C	3107	ENSG00000204525		{Psoriasis susceptibility 1}, 177900 (3), Multifactorial; {HIV-1 viremia, susceptibility to}, 609423 (3)	H2-D1,H2-K1,H2-M1,H2-M10.1,H2-M10.2,H2-M10.3,H2-M10.4,H2-M10.5,H2-M10.6,H2-M11,H2-M2,H2-M5,H2-M9,H2-Q1,H2-Q10,H2-Q2,H2-Q4,H2-Q6,H2-Q7,H2-T10,H2-T22,H2-T3 (MGI:1276522,MGI:1276524,MGI:1276525,MGI:1276526,MGI:1276527,MGI:1276570,MGI:2676637,MGI:2687364,MGI:95896,MGI:95904,MGI:95913,MGI:95914,MGI:95917,MGI:95928,MGI:95929,MGI:95931,MGI:95933,MGI:95935,MGI:95936,MGI:95942,MGI:95956,MGI:95959)
chr6	31353875	31357179	6p21.3	6p21.33	142830	HLA-B, SPDA1	Major histocompatibility complex, class I, B	HLA-B	3106	ENSG00000234745		{Stevens-Johnson syndrome, susceptibility to}, 608579 (3); {Ankylosing spondylitis, susceptibility to, 1}, 106300 (3), Multifactorial; {Severe cutaneous adverse reaction, susceptibility to}, 608579 (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3)	H2-D1,H2-K1,H2-M1,H2-M10.1,H2-M10.2,H2-M10.3,H2-M10.4,H2-M10.5,H2-M10.6,H2-M11,H2-M2,H2-M5,H2-M9,H2-Q1,H2-Q10,H2-Q2,H2-Q4,H2-Q6,H2-Q7,H2-T10,H2-T22,H2-T3 (MGI:1276522,MGI:1276524,MGI:1276525,MGI:1276526,MGI:1276527,MGI:1276570,MGI:2676637,MGI:2687364,MGI:95896,MGI:95904,MGI:95913,MGI:95914,MGI:95917,MGI:95928,MGI:95929,MGI:95931,MGI:95933,MGI:95935,MGI:95936,MGI:95942,MGI:95956,MGI:95959)
chr6	31400711	31415315	6p21.3	6p21.33	600169	MICA	MHC class I polypeptide-related sequence A	MICA	100507436	ENSG00000204520			Mill1,Mill2 (MGI:2179988,MGI:2179989)
chr6	31463180	31465809	6p21.3	6p21.33	604676	HCP5, 6S2650E	Major histocompatibility complex, class I, gene P5-1	HCP5	10866	ENSG00000206337			
chr6	31494918	31511124	6p21.3	6p21.33	602436	MICB	MHC class I polypeptide-related sequence B	MICB	4277	ENSG00000204516			Mill2 (MGI:2179989)
chr6	31528962	31530232	6p21.3	6p21.33	609624	MCCD1	Mitochondrial coiled-coil domain 1	MCCD1	401250	ENSG00000204511			
chr6	31530226	31542003	6p21.3	6p21.33	142560	DDX39B, BAT1, D6S81E	DExD-box helicase 39B	DDX39B	7919	ENSG00000198563	5 BATs in 160kb segment including also TNFA, TNFB		Ddx39b (MGI:99240)
chr6	31544444	31546742	6p21.3	6p21.33	606853	ATP6V1G2, ATP6G	ATPase, H+ transporting, V1 subunit G2	ATP6V1G2	534	ENSG00000213760			Atp6v1g2 (MGI:1913487)
chr6	31546851	31558829	6p21.3	6p21.33	601022	NFKBIL1	Nuclear factor-kappa-B inhibitor-like protein 1	NFKBIL1	4795	ENSG00000204498		{Rheumatoid arthritis, susceptibility to}, 180300 (3)	Nfkbil1 (MGI:1340031)
chr6	31560610	31574324	6p21.3	6p21.33	153440	LTA, TNFB	Lymphotoxin alpha (formerly tumor necrosis factor beta)	LTA	4049	ENSG00000226979	cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B	{Psoriatic arthritis, susceptibility to}, 607507 (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Leprosy, susceptibility to, 4}, 610988 (3)	Lta (MGI:104797)
chr6	31575565	31578336	6p21.3	6p21.33	191160	TNF, TNFA, IMD127	Tumor necrosis factor (cachectin)	TNF	7124	ENSG00000232810	mutation identified in 1 IMD127 family	{Migraine without aura, susceptibility to}, 157300 (3), Autosomal dominant; {Dementia, vascular, susceptibility to} (3); ?Immunodeficiency 127, 620977 (3), Autosomal recessive; {Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {Septic shock, susceptibility to} (3); {Malaria, cerebral, susceptibility to}, 611162 (3)	Tnf (MGI:104798)
chr6	31580558	31582425	6p21.3	6p21.33	600978	LTB, TNFC	Lymphotoxin B	LTB	4050	ENSG00000227507			Ltb (MGI:104796)
chr6	31586277	31588909	6p21.3-p21.1	6p21.33	109170	LST1, D6S49E, B144	Leukocyte-specific transcript 1 (B144 protein)	LST1	7940	ENSG00000204482	10kb 3' from TNFA		Lst1 (MGI:1096324)
chr6	31588895	31593006	6p21.3	6p21.33	611550	NCR3, 1C7, NKP30, CD337, MALS	Natural cytotoxicity triggering receptor 3	NCR3	259197	ENSG00000204475		{Malaria, mild, susceptibility to}, 609148 (3)	Ncr3-ps (MGI:2149332)
chr6	31615234	31617015	6p21.3	6p21.33	601833	AIF1, IRT1	Allograft inflammatory factor 1	AIF1	199	ENSG00000204472	part of TNF block		Aif1 (MGI:1343098)
chr6	31620715	31637771	6p21.3	6p21.33	142580	PRRC2A, BAT2, D6S51E	Proline-rich coiled-coil protein 2A	PRRC2A	7916	ENSG00000204469			Prrc2a (MGI:1915467)
chr6	31639028	31652661	6p21.3	6p21.33	142590	BAG6, BAT3, D6S52E	BAG cochaperone 6	BAG6	7917	ENSG00000204463			Bag6 (MGI:1919439)
chr6	31652404	31658210	6p21.3	6p21.33	606907	APOM, NG20	Apolipoprotein M	APOM	55937	ENSG00000204444			Apom (MGI:1930124)
chr6	31661228	31666283	6p21.3	6p21.33	142610	GPANK1, BAT4, D6S54E	G patch domain- and ankyrin repeats-containing protein 1	GPANK1	7918	ENSG00000204438			Gpank1 (MGI:2148975)
chr6	31666080	31670067	6p21.3	6p21.33	115441	CSNK2B, POBINDS	Casein kinase-2, beta polypeptide	CSNK2B	1460	ENSG00000204435		Poirier-Bienvenu neurodevelopmental syndrome, 618732 (3), Autosomal dominant	Csnk2b (MGI:88548)
chr6	31669976	31673546	6p21.3	6p21.33	610433	LY6G5B, G5B	Lymphocyte antigen 6 complex, locus G5B	LY6G5B	58496	ENSG00000240053			Ly6g5b (MGI:2385809)
chr6	31676684	31681067	6p21.3	6p21.33	610434	LY6G5C, G5C	Lymphocyte antigen 6 complex, locus G5C	LY6G5C	80741	ENSG00000204428			Ly6g5c (MGI:2148974)
chr6	31686955	31703324	6p21.3	6p21.33	142620	ABHD16A, BAT5, D6S82E, SPG86	Abhydrolase domain-containing 16A, phospholipase	ABHD16A	7920	ENSG00000204427		Spastic paraplegia 86, autosomal recessive, 619735 (3), Autosomal recessive	Abhd16a (MGI:99476)
chr6	31706866	31710679	6p21.33	6p21.33	611404	LY6G6F, C6orf21	Lymphocyte antigen 6 family, member G6F	LY6G6F	259215	ENSG00000204424			Ly6g6f (MGI:3616082)
chr6	31711976	31714065	6p21.3	6p21.33	610437	LY6G6E, G6E	Lymphocyte antigen 6 family member G6E, pseudogene	LY6G6E	79136				
chr6	31715348	31717919	6p21.3	6p21.33	606038	LY6G6D, MEGT1, G6D, C6orf23	Lymphocyte antigen 6 complex, locus G6D	LY6G6D	58530	ENSG00000244355			Ly6g6d (MGI:2148931)
chr6	31718648	31721746	6p21.3	6p21.33	610435	LY6G6C, G6C	Lymphocyte antigen 6 complex, locus G6C	LY6G6C	80740	ENSG00000204421			Ly6g6c (MGI:2148930)
chr6	31720296	31726714	6p21.33	6p21.33	606520	MPIG6B, G6B, C6orf25, THAMY	Megakaryocyte and platelet inhibitory receptor G6B	MPIG6B	80739	ENSG00000204420	mutation identified in 1 THAMY family	?Thrombocytopenia, anemia, and myelofibrosis, 617441 (3), Autosomal recessive	Mpig6b (MGI:2146995)
chr6	31727040	31730263	6p21.3	6p21.33	604744	DDAH2	Dimethylarginine dimethylaminohydrolase-2	DDAH2	23564	ENSG00000213722			Ddah2 (MGI:1859016)
chr6	31730581	31737318	6p21.33	6p21.33	602872	CLIC1	Chloride intracellular channel 1	CLIC1	1192	ENSG00000213719			Clic1 (MGI:2148924)
chr6	31740005	31762676	6p21.33	6p21.33	603382	MSH5, POF13, SPGF74	mutS homolog 5	MSH5	4439	ENSG00000204410	mutation identified in POF13 family	?Premature ovarian failure 13, 617442 (3), Autosomal recessive; Spermatogenic failure 74, 619937 (3), Autosomal recessive	Msh5 (MGI:1329021)
chr6	31765590	31777328	6p21.33	6p21.33	609693	VWA7, C6orf27, G7C	von Willebrand factor A domain-containing protein 7	VWA7	80737	ENSG00000204396			Vwa7 (MGI:1306798)
chr6	31777518	31795752	6p21.3	6p21.33	192150	VARS1, VARS, G7A, VARS2, NDMSCA	Valyl-tRNA synthetase 1	VARS1	7407	ENSG00000204394		Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive	Vars1 (MGI:90675)
chr6	31797396	31806966	6p21.3	6p21.33	607282	LSM2, C6orf28	LSM2 protein	LSM2	57819	ENSG00000204392			Lsm2 (MGI:90676)
chr6	31809619	31815283	6p21.3	6p21.33	140559	HSPA1L	Heat-shock 70kD protein-like-1	HSPA1L	3305	ENSG00000204390			Hspa1l (MGI:96231)
chr6	31815543	31817942	6p21.3	6p21.33	140550	HSPA1A	Heat-shock 70kD protein-1A	HSPA1A	3303	ENSG00000204389	also 14q22-q24, chr.21, and at least 1 other chromosome		Hspa1a (MGI:96244)
chr6	31827738	31830254	6p21.3	6p21.33	603012	HSPA1B	Heat-shock 70kD protein-1B	HSPA1B	3304	ENSG00000204388			Hspa1a,Hspa1b (MGI:96244,MGI:99517)
chr6	31834916	31839761	6p21.3	6p21.33	605447	SNHG32, C6orf48, G8	Small nucleolar RNA host gene 32	SNHG32	50854	ENSG00000204387			
chr6	31857659	31862821	6p21.3	6p21.33	608272	NEU1, NEU, SIAL1	Neuraminidase 1 (lysosomal sialidase; sialidase 1)	NEU1	4758	ENSG00000204386		Sialidosis, type II, 256550 (3), Autosomal recessive; Sialidosis, type I, 256550 (3), Autosomal recessive	Neu1 (MGI:97305)
chr6	31863192	31878997	6p21.3	6p21.33	606107	SLC44A4, CTL4, C6orf29, DFNA72	Solute carrier family 44, member 4	SLC44A4	80736	ENSG00000204385	mutation identified in 1 DFNA72 family	?Deafness, autosomal dominant 72, 617606 (3), Autosomal dominant	Slc44a4 (MGI:1917379)
chr6	31879759	31897698	6p21.3	6p21.33	604599	EHMT2, GAT8, G9A, NG36	Euchromatic histone-lysine N-methyltransferase 2	EHMT2	10919	ENSG00000204371			Ehmt2 (MGI:2148922)
chr6	31897783	31945672	6p21.3	6p21.33	613927	C2, ARMD14	Complement component-2	C2	717	ENSG00000166278	no crossover with BF	C2 deficiency, 217000 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3), Digenic dominant	C2 (MGI:88226)
chr6	31946095	31952084	6p21.3	6p21.33	138470	CFB, BF, GBG, AHUS4, ARMD14, CFBD	Complement factor B	CFB	629	ENSG00000243649	mutation identified in 1 CFBD family	?Complement factor B deficiency, 615561 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3), Autosomal dominant; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3), Digenic dominant	Cfb (MGI:105975)
chr6	31952087	31958971	6p21.3	6p21.33	154040	NELFE, RDBP	Negative elongation factor complex, member E	NELFE	7936	ENSG00000204356			Nelfe (MGI:102744)
chr6	31959175	31969751	6p21	6p21.33	600478	SKIC2, SKIV2L, SKI2, SKI2W, THES2	SKI2 subunit of superkiller complex	SKIC2	6499	ENSG00000204351		Trichohepatoenteric syndrome 2, 614602 (3), Autosomal recessive	Skic2 (MGI:1099835)
chr6	31969815	31972138	6p21.3	6p21.33	605996	DXO, DOM3Z	Decapping exoribonuclease	DXO	1797	ENSG00000204348			Dxo (MGI:1890444)
chr6	31971175	31981446	6p21.3	6p21.33	604977	STK19	Serine/threonine protein kinase 19	WHR1	8859	ENSG00000204344			Stk19 (MGI:1860085)
chr6	31982057	32002681	6p21.3	6p21.33	120810	C4A, C4S, C4AD	Complement component-4A	C4A	720	ENSG00000244731	order:  HLA-B, C2, BF, C4A, C4B, CYP21, DR	[Blood group, Rodgers], 614374 (3); C4a deficiency, 614380 (3), Autosomal recessive	C4a,C4b (MGI:88228,MGI:98320)
chr6	32014795	32035418	6p21.3	6p21.33	120820	C4B, C4F, C4BD	Complement component-4B	C4B	721	ENSG00000224389	10kb from C4S	C4B deficiency, 614379 (3)	C4a,C4b (MGI:88228,MGI:98320)
chr6	32038415	32041644	6p21.3	6p21.33	613815	CYP21A2, CYP21, CA21H	Cytochrome P450, subfamily XXIA, polypeptide 2 (steroid 21-hydroxylase)	CYP21A2	1589	ENSG00000231852	linked to C2, C4, BF; 2 loci, A and B; only B active; pseudogene CYP21P contiguous on 6p	Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive	Cyp21a1 (MGI:88591)
chr6	32041153	32109338	6p21.3	6p21.33-p21.32	600985	TNXB, TNX, TNXB1, TNXBS, TNXB2, EDSCLL1, VUR8	Tenascin XB	TNXB	7148	ENSG00000168477		Ehlers-Danlos syndrome, classic-like, 1, 606408 (3), Autosomal recessive; Vesicoureteral reflux 8, 615963 (3), Autosomal dominant	Tnxb (MGI:1932137)
chr6	32115264	32128246	6p21.3	6p21.32	600984	ATF6B, CREBL1	Activating transcription factor 6 beta	ATF6B	1388	ENSG00000213676			Atf6b (MGI:105121)
chr6	32128707	32130288	6p21.3	6p21.32	617076	FKBPL, DIR1, WISP39	FK506-binding protein-like	FKBPL	63943	ENSG00000204315			Fkbpl (MGI:1932127)
chr6	32148363	32153083	6p21.32	6p21.32	618297	PRRT1, DSPD1	Proline-rich transmembrane protein 1	PRRT1	80863	ENSG00000204314			Prrt1 (MGI:1932118)
chr6	32153528	32163675	6p21.3	6p21.32	603298	PPT2	Palmitoyl-protein thioesterase-2	PPT2	9374	ENSG00000221988			Ppt2 (MGI:1860075)
chr6	32164595	32168281	6p21.32	6p21.32	609897	EGFL8	Epidermal growth factor-like 8	EGFL8	80864	ENSG00000241404			Egfl8 (MGI:1932094)
chr6	32168212	32178108	6p21.3	6p21.32	603099	AGPAT1, LPAATA	1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase-alpha)	AGPAT1	10554	ENSG00000204310			Agpat1 (MGI:1932075)
chr6	32178405	32180793	6p21.3	6p21.32	602677	RNF5, RING5	RING finger protein-5	RNF5	6048	ENSG00000204308			Rnf5 (MGI:1860076)
chr6	32180969	32184253	6p21.3	6p21.32	600214	AGER, RAGE	Advanced glycosylation end product-specific receptor	AGER	177	ENSG00000204305	at junction of classes II, III MHC		Ager (MGI:893592)
chr6	32184733	32190202	6p21.3	6p21.32	176311	PBX2, HOX12, G17	Pre-B-cell leukemia transcription factor-2	PBX2	5089	ENSG00000204304			Pbx2 (MGI:1341793)
chr6	32190766	32195523	6p21.32	6p21.32	618558	GPSM3, AGS4	G-protein signaling modulator 3	GPSM3	63940	ENSG00000213654			Gpsm3 (MGI:2146785)
chr6	32194843	32224067	6p21.3	6p21.32	164951	NOTCH4, INT3	Notch, Drosophila, homolog of, 4	NOTCH4	4855	ENSG00000204301			Notch4 (MGI:107471)
chr6	32292698	32371903	6p21.32	6p21.32	618151	TSBP1, TSBP, C6orf10	Testis-expressed basic protein 1	TSBP1	10665	ENSG00000204296			Tsbp1 (MGI:3039565)
chr6	32393339	32407181	6p21.3	6p21.32	606000	BTNL2, SS2	Butyrophilin-like protein 2	BTNL2	56244	ENSG00000204290		{Sarcoidosis, susceptibility to, 2}, 612387 (3), Autosomal dominant	Btnl2 (MGI:1859549)
chr6	32439887	32445046	6p21.3	6p21.32	142860	HLA-DRA	Major histocompatibility complex, class II, DR alpha	HLA-DRA	3122	ENSG00000204287	1 alpha, 3 different beta chains		H2-Ea (MGI:95900)
chr6	32517353	32530287	6p21.3	6p21.32	604776	HLA-DRB5	Major histocompatibility complex, class II, DR beta-5	HLA-DRB5	3127	ENSG00000198502			H2-Eb1,H2-Eb2 (MGI:95901,MGI:95902)
chr6	32578775	32589848	6p21.3	6p21.32	142857	HLA-DRB1, SS1	Major histocompatibility complex, class II, DR beta-1	HLA-DRB1	3123	ENSG00000196126		{Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Sarcoidosis, susceptibility to, 1}, 181000 (3), Autosomal dominant	H2-Eb1,H2-Eb2 (MGI:95901,MGI:95902)
chr6	32637406	32655272	6p21.3	6p21.32	146880	HLA-DQA1, CELIAC1	Major histocompatibility complex, class II, DQ alpha-1	HLA-DQA1	3117	ENSG00000196735		{Celiac disease, susceptibility to}, 212750 (3), Multifactorial, Autosomal recessive	H2-Aa (MGI:95895)
chr6	32659467	32666657	6p21.3	6p21.32	604305	HLA-DQB1, CELIAC1	Major histocompatibility complex, class II, DQ beta-1	HLA-DQB1	3119	ENSG00000179344		{Celiac disease, susceptibility to}, 212750 (3), Multifactorial, Autosomal recessive; {Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3), Autosomal dominant	H2-Ab1 (MGI:103070)
chr6	32741391	32747198	6p21.32	6p21.32	613503	HLA-DQA2, HLA-DXA	Major histocompatibility complex, class II, DQ alpha-2	HLA-DQA2	3118	ENSG00000237541			H2-Aa (MGI:95895)
chr6	32756098	32763532	6p21.32	6p21.32	615161	HLA-DQB2, HLA-DXB	Major histocompatibility complex, class II, DQ beta-2	HLA-DQB2	3120	ENSG00000232629			H2-Ab1 (MGI:103070)
chr6	32812763	32817002	6p21.3	6p21.32	600629	HLA-DOB	Major histocompatibility complex, class II, DO beta	HLA-DOB	3112	ENSG00000241106			H2-Ob (MGI:95925)
chr6	32821831	32838739	6p21.3	6p21.32	170261	TAP2, ABCB3, PSF2, RING11, MHC1D2	Transporter 2, ATP-binding cassette, subfamily B	TAP2	6891	ENSG00000204267	tel-TAP1-LMP2-LMP1-TAP2-cen	MHC class I deficiency 2, 620813 (3), Autosomal recessive	Tap2 (MGI:98484)
chr6	32840717	32844679	6p21.3	6p21.32	177046	PSMB8, LMP7, RING10, JMP, NKJO, ALDD, PRAAS1	Proteasome subunit, beta type, 8 (large multifunctional protease-7)	PSMB8	5696	ENSG00000204264	between TAP1 and TAP2	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3), Autosomal recessive	Psmb8 (MGI:1346527)
chr6	32845209	32853704	6p21.3	6p21.32	170260	TAP1, ABCB2, RING4, PSF1, MHC1D1	Transporter 1, ATP-binding cassette, subfamily B	TAP1	6890	ENSG00000168394	~7kb telomeric to TAP2	MHC class I deficiency 1, 604571 (3), Autosomal recessive	Tap1 (MGI:98483)
chr6	32854192	32859851	6p21.3	6p21.32	177045	PSMB9, LMP2, RING12, PRAAS6	Proteasome subunit, beta type, 9	PSMB9	5698	ENSG00000240065		Proteasome-associated autoinflammatory syndrome 6, 620796 (3), Autosomal dominant	Psmb9 (MGI:1346526)
chr6	32934636	32941028	6p21.3	6p21.32	142856	HLA-DMB, RING7	Major histocompatibility complex, class II, DM beta	HLA-DMB	3109	ENSG00000242574			H2-DMb1,H2-DMb2 (MGI:95922,MGI:95923)
chr6	32948618	32953097	6p21.3	6p21.32	142855	HLA-DMA, RING6	Major histocompatibility complex, class II, DM alpha	HLA-DMA	3108	ENSG00000204257			H2-DMa (MGI:95921)
chr6	32968594	32981505	6p21.3	6p21.32	601540	BRD2, RING3, FSRG1	Bromodomain-containing protein 2	BRD2	6046	ENSG00000204256	between HLA-DNA and HLA-DMA		Brd2 (MGI:99495)
chr6	33004182	33009591	6p21.3	6p21.32	142930	HLA-DNA	Major histocompatibility complex, class II, DN alpha	HLA-DOA	3111	ENSG00000204252			H2-Oa (MGI:95924)
chr6	33064569	33080748	6p21.3	6p21.32	142880	HLA-DPA1, HLADP	Major histocompatibility complex, class II, DP alpha-1	HLA-DPA1	3113	ENSG00000231389	2 different alpha, 2 different beta chains		
chr6	33075990	33089696	6p21.3	6p21.32	142858	HLA-DPB1	Major histocompatibility complex, class II, DP beta-1	HLA-DPB1	3115	ENSG00000223865		{Beryllium disease, chronic, susceptibility to} (3)	
chr6	33162694	33193519	6p21.3	6p21.32	120290	COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB	Collagen XI, alpha-2 polypeptide	COL11A2	1302	ENSG00000204248	45kb centromeric of HLA-DPB2; 3'--5'-cen	Deafness, autosomal dominant 13, 601868 (3), Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3), Autosomal recessive; Fibrochondrogenesis 2, 614524 (3), Autosomal recessive, Autosomal dominant; Deafness, autosomal recessive 53, 609706 (3), Autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3), Autosomal dominant	Col11a2 (MGI:88447)
chr6	33193588	33200853	6p21.3	6p21.32	180246	RXRB	Retinoid X receptor, beta	RXRB	6257	ENSG00000204231			Rxrb (MGI:98215)
chr6	33200867	33204437	6p21.3	6p21.32	601416	SLC39A7, D6S2244E, HKE4, AGM9	Solute carrier family 39 (zinc transporter), member 7 (Ke4 gene, mouse, homolog of)	SLC39A7	7922	ENSG00000112473		Agammaglobulinemia 9, autosomal recessive, 619693 (3), Autosomal recessive	Slc39a7 (MGI:95909)
chr6	33204655	33206831	6p21.3	6p21.32	601417	HSD17B8, FABGL, D6S2245E, HKE6	Hydroxysteroid (17-beta) dehydrogenase 8 (Ke6 gene, mouse, homolog of)	HSD17B8	7923	ENSG00000204228			Hsd17b8 (MGI:95911)
chr6	33207835	33207944	6p21.32	6p21.32	611500	MRI219-1, MIRN219-1	Micro RNA 219-1	MIR219A1	407002	ENSG00000199036			Mir219a-1 (MGI:3618753)
chr6	33208500	33212716	6p21.3	6p21.32	602045	RING1, RNF1	RING finger protein-1	RING1	6015	ENSG00000204227			Ring1 (MGI:1101770)
chr6	33250272	33271965	6p21.3	6p21.32	603443	VPS52, SACM2L	VPS52 subunit of GARP complex	VPS52	6293	ENSG00000223501			Vps52 (MGI:1330304)
chr6	33272075	33276511	6p21.3	6p21.32	180473	RPS18	Ribosomal protein S18	RPS18	6222	ENSG00000231500			Rps18 (MGI:98146)
chr6	33277123	33278825	6p21.3	6p21.32	603095	B3GALT4	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 4	B3GALT4	8705	ENSG00000235863			B3galt4 (MGI:1859517)
chr6	33279108	33289239	6p21.3	6p21.32	611440	WDR46, BING4	WD repeat-containing protein 46	WDR46	9277	ENSG00000227057			Wdr46 (MGI:1931871)
chr6	33289197	33290934	6p21.32	6p21.32	605660	PFDN6, HKE2	Prefoldin 6	PFDN6	10471	ENSG00000204220			Pfdn6 (MGI:95908)
chr6	33291654	33301612	6p21.3	6p21.32	602306	RAB2L	RAB2, member RAS oncogene family-like	RGL2	5863	ENSG00000237441			Rgl2 (MGI:107483)
chr6	33299694	33314078	6p21.3	6p21.32	601962	TAPBP, TPSN, MHC1D3	TAP-binding protein (tapasin)	TAPBP	6892	ENSG00000231925	mutation identified in 1 MCH1D3 patient	?MHC class I deficiency 3, 620814 (3), Autosomal recessive	Tapbp (MGI:1201689)
chr6	33314418	33317942	6p21.3	6p21.32	611439	ZBTB22, BING1	Zinc finger- and BTB domain-containing protein 22	ZBTB22	9278	ENSG00000236104			Zbtb22 (MGI:1931870)
chr6	33318558	33322959	6p21.3	6p21.32	603186	DAXX	Death-associated protein 6	DAXX	1616	ENSG00000204209			Daxx (MGI:1197015)
chr6	33391461	33409896	6p21.3	6p21.32	603763	KIFC1, KNSL2, HSET	Kinesin family member C1	KIFC1	3833	ENSG00000237649			Kifc1,Kifc5b (MGI:109596,MGI:2137414)
chr6	33410412	33416439	6p21.3	6p21.32	602881	PHF1	PHD finger protein-1	PHF1	5252	ENSG00000112511			Phf1 (MGI:98647)
chr6	33416442	33418107	6p21.32	6p21.32	616953	CUTA, ACHAP, C6orf82	CutA divalent cation tolerance homolog	CUTA	51596	ENSG00000112514			Cuta (MGI:1914925)
chr6	33418167	33453689	6p21.3	6p21.32	603384	SYNGAP1, MRD5	Synaptic Ras GTPase activating protein 1	SYNGAP1	8831	ENSG00000197283		Intellectual developmental disorder, autosomal dominant 5, 612621 (3), Autosomal dominant	Syngap1 (MGI:3039785)
chr6	33500001	36600000	6p21.31		612893	STQTL19	Stature quantitative trait locus 19		100302684		associated with rs1776897	{Stature QTL 19}, 612893 (2)	
chr6	33572552	33580276	6p21.3-p21.2	6p21.31	600516	BAK1	BCL2-antagonist/killer 1	BAK1	578	ENSG00000030110	centromeric to MHC region		Bak1 (MGI:1097161)
chr6	33583699	33589026	6p21.31	6p21.31	609495	GGNBP1	Gametogenetin-binding protein 1	GGNBP1	449520				
chr6	33621322	33696562	6pter-p21	6p21.31	147267	ITPR3, CMT1J	Inositol 1,4,5-triphosphate receptor, type 3	ITPR3	3710	ENSG00000096433		Charcot-Marie-Tooth disease, demyelinating, type 1J, 620111 (3), Autosomal dominant; {Diabetes, type 1, susceptibility to}, 222100 (2), Autosomal recessive	Itpr3 (MGI:96624)
chr6	33696764	33711700	6p21.31	6p21.31	614461	UQCC2, C6orf126, M19, MC3DN7	Ubiquinol-cytochrome c reductase complex assembly factor 2	UQCC2	84300	ENSG00000137288		Mitochondrial complex III deficiency, nuclear type 7, 615824 (3), Autosomal recessive	Uqcc2 (MGI:1914517)
chr6	33721662	33762145	6p21	6p21.31	606993	IP6K3, IHPK3, INSP6K3	Inositol hexaphosphate kinase 3	IP6K3	117283	ENSG00000161896	pseudogene on 6p24.1		Ip6k3 (MGI:3045325)
chr6	33771213	33789130	6p21.31	6p21.31	616312	LEMD2, NET25, CTRCT42, MARUPS	LEM domain-containing protein 2	LEMD2	221496	ENSG00000161904		Marbach-Rustad progeroid syndrome, 619322 (3), Autosomal dominant; Cataract 46, juvenile-onset, 212500 (3), Autosomal recessive	Lemd2 (MGI:2385045)
chr6	33794673	33804003	6p21.3	6p21.31	158270	MLN	Motilin	MLN	4295	ENSG00000096395			
chr6	34018643	34155622	6p21.3	6p21.31	604100	GRM4, MGLUR4	Glutamate receptor, metabotropic, 4	GRM4	2914	ENSG00000124493			Grm4 (MGI:1351341)
chr6	34236873	34246231	6p21	6p21.31	600701	HMGA1, HMGIY	High-mobility group AT-hook 1	HMGA1	3159	ENSG00000137309		{Type 2 diabetes mellitus, susceptibility to}, 125853 (3), Autosomal dominant	Hmga1,Hmga1b (MGI:96160,MGI:96161)
chr6	34246395	34249006	6p21.3	6p21.31	611419	SMIM29, C6orf1, LBH	Small integral membrane protein 29	SMIM29	221491	ENSG00000186577	opposite strand, tail-to-tail with HMGA1		Smim29 (MGI:2146839)
chr6	34279679	34392669	6p21.31	6p21.31	609228	NUDT3, DIPP, DIPP1	Nudix hydrolase 3	NUDT3	11165	ENSG00000272325			Nudt3 (MGI:1928484)
chr6	34417454	34426069	6p	6p21.31	603632	RPS10, DBA9	Ribosomal protein S10	RPS10	6204	ENSG00000124614		Diamond-Blackfan anemia 9, 613308 (3), Autosomal dominant	Rps10 (MGI:1914347)
chr6	34466076	34535223	6p21	6p21.31	606512	PACSIN1, KIAA1379	Protein kinase C and casein kinase substrate in neurons 1	PACSIN1	29993	ENSG00000124507			Pacsin1 (MGI:1345181)
chr6	34537802	34556329	6p21.3	6p21.31	608144	SPDEF, PDEF	SAM pointed domain-containing ETS transcription factor	SPDEF	25803	ENSG00000124664			Spdef (MGI:1353422)
chr6	34587288	34696767	6p21.31	6p21.31	612217	C6orf106	Chromosome 6 open reading frame 106	ILRUN	64771	ENSG00000196821			Ilrun (MGI:106281)
chr6	34757505	34773857	6p21.31	6p21.31	603522	SNRPC	Small nuclear ribonucleoprotein polypeptide C	SNRPC	6631	ENSG00000124562			Snrpc (MGI:109489)
chr6	34792083	34877514	6p21	6p21.31	619570	UHRF1BP1	UHRF1-binding protein 1	BLTP3A	54887	ENSG00000065060			Bltp3a (MGI:3041238)
chr6	34877462	34888071	6p21.31	6p21.31	600772	TAF11, TAF2I, TAFII28	TAF11 RNA polymerase II, TATA box-binding protein-associated factor, 28kD	TAF11	6882	ENSG00000064995			Taf11 (MGI:1916026)
chr6	34889255	35097990	6p21.3	6p21.31	608994	ANKS1, ODIN, KIAA0229	Ankyrin repeat and sterile alpha motif domains-containing protein 1	ANKS1A	23294	ENSG00000064999			Anks1 (MGI:2446180)
chr6	35118075	35141339	6p21.3-p21.2	6p21.31	186982	TCP11, D6S230E	T-complex protein 11	TCP11	6954	ENSG00000124678	expressed only in testis at same time as ZNF76 (day 20 after birth)		Tcp11 (MGI:98544)
chr6	35213956	35253079	6p21.3	6p21.31	614708	SCUBE3, SSFSC2	Signal peptide-, CUB domain-,  and EGF-like domains-containing protein 3	SCUBE3	222663	ENSG00000146197		Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 619184 (3), Autosomal recessive	Scube3 (MGI:3045253)
chr6	35259533	35295985	6p21.3-p21.2	6p21.31	194549	ZNF76, D6S229E	Zinc finger protein-76 (expressed in testis)	ZNF76	7629	ENSG00000065029	same 300kb fragment as TCP11		Zfp523 (MGI:2687278)
chr6	35297818	35321771	6p21.31	6p21.31	610094	DEF6, IBP, SLAT, IMD87	DEF6 guanine nucleotide exchange factor	DEF6	50619	ENSG00000023892		Immunodeficiency 87 and autoimmunity, 619573 (3), Autosomal recessive	Def6 (MGI:1346328)
chr6	35342558	35428178	6p21.2-p21.1	6p21.31	600409	PPARD, NUC1	Peroxisome proliferative activated receptor, delta	PPARD	5467	ENSG00000112033			Ppard (MGI:101884)
chr6	35452338	35467102	6p22-p21	6p21.31	613976	FANCE, FACE	Fanconi anemia, complementation group E gene	FANCE	2178	ENSG00000112039		Fanconi anemia, complementation group E, 600901 (3), Autosomal recessive	Fance (MGI:1920025)
chr6	35468401	35470780	6p21.31	6p21.31	615660	RPL10A, CSA19	Ribosomal protein L10A	RPL10A	4736	ENSG00000198755			Rpl10a (MGI:1343877)
chr6	35473597	35497079	6p21.3	6p21.31	603170	TEAD3, TEF5, TEAD5	TEA domain family member 3 (transcriptional enhancer factor 5)	TEAD3	7005	ENSG00000007866			Tead3 (MGI:109241)
chr6	35497874	35512896	6p21.3	6p21.31	602280	TULP1, RP14, LCA15	TUB-like protein 1	TULP1	7287	ENSG00000112041		Leber congenital amaurosis 15, 613843 (3), Autosomal recessive; Retinitis pigmentosa 14, 600132 (3), Autosomal recessive	Tulp1 (MGI:109571)
chr6	35573590	35728583	6p21.3-p21.2	6p21.31	602623	FKBP5, FKBP51	FK506-binding protein 5	FKBP5	2289	ENSG00000096060		{Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3)	Fkbp5 (MGI:104670)
chr6	35731524	35749079	6p21.31	6p21.31	620377	ARMC12, SPGF90	Armadillo repeat-containing protein 12	ARMC12	221481	ENSG00000157343		Spermatogenic failure 90, 620744 (3), Autosomal recessive	Armc12 (MGI:1914895)
chr6	35794982	35797323	6pter-p21.1	6p21.31	120105	CLPS	Colipase, pancreatic	CLPS	1208	ENSG00000137392			Clps (MGI:88421)
chr6	35805352	35824070	6p21.3	6p21.31	609427	LHFPL5, TMHS, DFNB67	LHFPL tetraspan subfamily, member 5	LHFPL5	222662	ENSG00000197753		Deafness, autosomal recessive 67, 610265 (3), Autosomal recessive	Lhfpl5 (MGI:1915382)
chr6	35832966	35921098	6p21.31	6p21.31	601939	SRPK1	SRSF protein kinase 1	SRPK1	6732	ENSG00000096063			Srpk1 (MGI:106908)
chr6	35943516	36024641	6p21.31	6p21.31	608480	SLC26A8, TAT1, SPGF3	Solute carrier family 26 (sulfate transporter), member 8	SLC26A8	116369	ENSG00000112053		Spermatogenic failure 3, 606766 (3), Autosomal recessive, Autosomal dominant	Slc26a8 (MGI:2385046)
chr6	36027808	36124214	6p21.3-p21.2	6p21.31	600289	MAPK14, CSBP1	Mitogen-activated protein kinase 14 (cytokine suppressive anti-inflammatory drug binding protein 1)	MAPK14	1432	ENSG00000112062			Mapk14 (MGI:1346865)
chr6	36130513	36144521	6p21.3	6p21.31	602899	MAPK13	Mitogen-activated protein kinase 13	MAPK13	5603	ENSG00000156711			Mapk13 (MGI:1346864)
chr6	36196744	36232790	6p21.31	6p21.31	616856	BRPF3, KIAA1286	Bromodomain- and PHD finger-containing protein 3	BRPF3	27154	ENSG00000096070			Brpf3 (MGI:2146836)
chr6	36243168	36313955	6p21.31	6p21.31	612121	PNPLA1, ARCI10	Patatin-like phospholipase domain-containing protein 1	PNPLA1	285848	ENSG00000180316		Ichthyosis, congenital, autosomal recessive 10, 615024 (3), Autosomal recessive	Pnpla1 (MGI:3617850)
chr6	36354088	36387669	6p21	6p21.31	605255	ETV7, TEL2, TELB	ETS variant transcription factor 7	ETV7	51513	ENSG00000010030			
chr6	36443000	36491141	6p21.31	6p21.31	615932	KCTD20	Potassium channel tetramerization domain-containing protein 20	KCTD20	222658	ENSG00000112078			Kctd20 (MGI:1914239)
chr6	36493892	36547479	6p21	6p21.31	606964	STK38, NDR	Serine/threonine protein kinase 38	STK38	11329	ENSG00000112079			Stk38 (MGI:2442572)
chr6	36594362	36605600	6p21	6p21.31-p21.2	603364	SRSF3, SFRS3, SRP20	Splicing factor, arginine/serine-rich, 3	SRSF3	6428	ENSG00000112081			Srsf3 (MGI:98285)
chr6	36600001	40500000	6p21.2		616343	TP53COR1	Tumor protein p53 pathway corepressor 1, noncoding	TP53COR1	102800311				Trp53cor1 (MGI:3801771)
chr6	36673621	36675126	6p21.2	6p21.2	617179	PANDAR	Promoter of CDKN1A antisense DNA damage-activated RNA	PANDAR	101154753	ENSG00000281450			
chr6	36676463	36687332	6p21.2	6p21.2	116899	CDKN1A, WAF1, CIP1, CDKN1	Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	CDKN1A	1026	ENSG00000124762			Cdkn1a (MGI:104556)
chr6	36740775	36839998	6p21	6p21.2	604209	CPNE5, CPN5	Copine V	CPNE5	57699	ENSG00000124772			Cpne5 (MGI:2385908)
chr6	36854829	36874803	6p21.1	6p21.2	601301	PPIL1, CYPL1, PCH14	Peptidylprolyl isomerase (cyclophilin)-like 1	PPIL1	51645	ENSG00000137168	previously assigned to chr.2	Pontocerebellar hypoplasia, type 14, 619301 (3), Autosomal recessive	Ppil1 (MGI:1916066)
chr6	36871844	36928964	6p21.2	6p21.2	616642	C6orf89, BRAP, AMFION	Bombesin receptor-activated protein	C6orf89	221477	ENSG00000198663			BC004004 (MGI:2136782)
chr6	36968135	36986551	6p21.2	6p21.2	610449	MTCH1, PSAP	Mitochondrial carrier homolog 1	MTCH1	23787	ENSG00000137409			Mtch1 (MGI:1929261)
chr6	37005655	37029069	6p21.2	6p21.2	605091	FGD2	FYVE, RhoGEF, and PH domain-containing protein 2	FGD2	221472	ENSG00000146192			Fgd2 (MGI:1347084)
chr6	37170152	37175428	6p21.2	6p21.2	164960	PIM1	Oncogene PIM1	PIM1	5292	ENSG00000137193			Pim1 (MGI:97584)
chr6	37257772	37332970	6p21.2	6p21.2	616880	TBC1D22B, C6orf197	TBC1 domain family, member 22B	TBC1D22B	55633	ENSG00000065491			Tbc1d22b (MGI:2681867)
chr6	37353983	37394734	6p21.3	6p21.2	611685	RNF8, KIAA0646	RING finger protein 8	RNF8	9025	ENSG00000112130			Rnf8 (MGI:1929069)
chr6	37423985	37481508	6p21.2	6p21.2	616189	CMTR1, MTR1, ISG95, FTSJD2, KIAA0082	CAP methyltransferase 1	CMTR1	23070	ENSG00000137200			Cmtr1 (MGI:1921407)
chr6	37630679	37697883	6p21	6p21.2	609626	MDGA1, GPIM	MAM domain-containing glycosylphosphatidylinositol anchor 1	MDGA1	266727	ENSG00000112139			Mdga1 (MGI:1922012)
chr6	37819727	38154624	6pter-p22.3	6p21.2	607455	ZFAND3, TEX27	Zinc finger AN1 domain-containing protein 3	ZFAND3	60685	ENSG00000156639			Zfand3 (MGI:1096572)
chr6	38168451	38639929	6p21	6p21.2	611237	BTBD9, KIAA1880	BTB/POZ domain-containing protein 9	BTBD9	114781	ENSG00000183826			Btbd9 (MGI:1916625)
chr6	38675925	38703145	6p21.3-p21.2	6p21.2	138750	GLO1	Glyoxalase I	GLO1	2739	ENSG00000124767	~3cM proximal to HLA		Glo1 (MGI:95742)
chr6	38715311	39030792	6p21	6p21.2	603337	DNAH8, HDHC9, SPGF46	Dynein, axonemal, heavy chain 8	DNAH8	1769	ENSG00000124721		Spermatogenic failure 46, 619095 (3), Autosomal recessive	Dnah8 (MGI:107714)
chr6	39048781	39091303	6p21	6p21.2	138032	GLP1R	Glucagon-like peptide 1 receptor	GLP1R	2740	ENSG00000112164			Glp1r (MGI:99571)
chr6	39188971	39229475	6p21	6p21.2	603493	KCNK5, TASK2	Potassium channel, subfamily K, member 5	KCNK5	8645	ENSG00000164626			Kcnk5 (MGI:1336175)
chr6	39299001	39314419	6p21.2-p21.1	6p21.2	607370	KCNK17, TASK4, TALK2	Potassium channel, subfamily K, member 17	KCNK17	89822	ENSG00000124780			
chr6	39314570	39322968	6p21.2-p21.1	6p21.2	607369	KCNK16, TALK1	Potassium channel, subfamily K, member 16	KCNK16	83795	ENSG00000095981			Kcnk16 (MGI:1921821)
chr6	39329990	39725408	6p21	6p21.2	613919	KIF6	Kinesin family member 6	KIF6	221458	ENSG00000164627			Kif6 (MGI:1098238)
chr6	39792376	39904869	6p21.2	6p21.2	606627	DAAM2, KIAA0381, NPHS24	Dishevelled-associated activator of morphogenesis 2	DAAM2	23500	ENSG00000146122		Nephrotic syndrome, type 24, 619263 (3), Autosomal recessive	Daam2 (MGI:1923691)
chr6	39904170	39934462	6p21.3	6p21.2	603707	MOCS1, MOCODA	Molybdenum cofactor synthesis-1	MOCS1	4337	ENSG00000124615		Molybdenum cofactor deficiency A, 252150 (3), Autosomal recessive	Mocs1 (MGI:1928904)
chr6	40378337	40379893	6p21.2-p21.1	6p21.2	615676	TDRG1, LINC00532	Testis development-related gene 1, noncoding	TDRG1	732253	ENSG00000204091			
chr6	40391591	40587364	6p21.2	6p21.2-p21.1	612808	LRFN2, SALM1, KIAA1246	Leucine-rich repeat and fibronectin type III domain-containing protein 2	LRFN2	57497	ENSG00000156564			Lrfn2 (MGI:1917780)
chr6	40500001	53000000	6p21.1-p12.2		607498	MGR3	Migraine with or without aura, susceptibility to, 3		337892		lod 5.78 at D6S452	{Migraine with or without aura, susceptibility to, 3}, 607498 (2), Autosomal dominant	
chr6	40500001	46200000	6p21.1		132100	PPR1	Photoparoxysmal response 1		100528023		max lod at D6S2427	Photoparoxysmal response 1, 132100 (2), Autosomal dominant	
chr6	41026895	41039221	6p21.1	6p21.1	617464	UNC5CL, ZUD	unc-5 family C-terminal like protein	UNC5CL	222643	ENSG00000124602			Unc5cl (MGI:1923839)
chr6	41041386	41044337	6p21.1	6p21.1	619409	TSPO2	Translocator protein 2	TSPO2	222642	ENSG00000112212			Tspo2 (MGI:1917276)
chr6	41053202	41064891	6p21	6p21.1	604797	APOBEC2	Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2	APOBEC2	10930	ENSG00000124701			Apobec2 (MGI:1343178)
chr6	41064772	41097787	6p21.1	6p21.1	614393	OARD1, C6orf130	O-acyl-ADP-ribose deacylase 1	OARD1	221443	ENSG00000124596			Oard1 (MGI:2146818)
chr6	41072974	41102403	6p21.3	6p21.1	189903	NFYA	Transcription factor NF-Y, A subunit	NFYA	4800	ENSG00000001167			Nfya (MGI:97316)
chr6	41149260	41155403	6p21.1	6p21.1	609714	TREML1, TLT1	Triggering receptor expressed on myeloid cells-like protein 1	TREML1	340205	ENSG00000161911			Treml1 (MGI:1918576)
chr6	41158508	41163116	6p21.2	6p21.1	605086	TREM2, PLOSL2, AD17	Triggering receptor expressed on myeloid cells 2	TREM2	54209	ENSG00000095970		{Alzhieimer disease 17, susceptibility to}, 615080 (3), Autosomal recessive; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 (3), Autosomal recessive	Trem2 (MGI:1913150)
chr6	41189749	41201149	6p21.1	6p21.1	609715	TREML2, TLT2	Triggering receptor expressed on myeloid cells-like protein 2	TREML2	79865	ENSG00000112195			Treml2 (MGI:2147038)
chr6	41208554	41217947	6p21.1	6p21.1	609716	TREML3, TLT3	Triggering receptor expressed on myeloid cells-like protein 3	TREML3P	340206	ENSG00000290563			
chr6	41228349	41238882	6p21	6p21.1	614664	TREML4, TLT4	Triggering receptor expressed on myeloid cells-like protein 4	TREML4	285852	ENSG00000188056			Treml4 (MGI:1923239)
chr6	41267385	41286682	6p21.1	6p21.1	605085	TREM1	Triggering receptor expressed on myeloid cells 1	TREM1	54210	ENSG00000124731			Trem1 (MGI:1930005)
chr6	41335608	41350889	6p21.1	6p21.1	604531	NCR2, LY95, NKP44	Natural cytotoxicity triggering receptor 2 (lymphocyte antigen 95, mouse, homolog of)	NCR2	9436	ENSG00000096264			
chr6	41546381	41602384	6p21.1	6p21.1	608924	FOXP4	Forkhead box P4	FOXP4	116113	ENSG00000137166			Foxp4 (MGI:1921373)
chr6	41637018	41654244	6p21	6p21.1	604971	MDFI	MYOD family inhibitor	MDFI	4188	ENSG00000112559			Mdfi (MGI:107687)
chr6	41683978	41736223	6p21	6p21.1	600744	TFEB, TCFEB	Transcription factor EB	TFEB	7942	ENSG00000112561			Tfeb (MGI:103270)
chr6	41736711	41747397	6p21.3-p21.1	6p21.1	169740	PGC	Preprogastricsin	PGC	5225	ENSG00000096088	cen-PGG-GLO1-HLA		Pgc (MGI:98909)
chr6	41770176	41779900	6p21.1	6p21.1	607744	FRS3, FRS2B, SNT2	Fibroblast growth factor receptor substrate 3	FRS3	10817	ENSG00000137218			Frs3 (MGI:2135965)
chr6	41780782	41787452	6p21.31	6p21.1	611389	PRICKLE4, C6orf49, OBTP	Prickle, Drosophila, homolog of, 4	PRICKLE4	29964	ENSG00000278224			Prickle4 (MGI:2685785)
chr6	41787694	41789895	6p21.1	6p21.1	616168	TOMM6, TOM6	Translocase of outer mitochondrial membrane 6	TOMM6	100188893	ENSG00000214736			Tomm6 (MGI:1913369)
chr6	41905354	41921139	6p21.1	6p21.1	612915	MED20, TRFP	Mediator complex subunit 20	MED20	9477	ENSG00000124641			Med20 (MGI:1929648)
chr6	41908759	41933046	6p21.1	6p21.1	603871	BYSL	By the ribosomal protein S6 gene, Drosophila, homolog-like (bystin)	BYSL	705	ENSG00000112578			Bysl (MGI:1858419)
chr6	41934933	42050035	6p21	6p21.1	123834	CCND3	Cyclin D3	CCND3	896	ENSG00000112576	pseudogene also on 6p21		Ccnd3 (MGI:88315)
chr6	42050524	42087462	6p21.1	6p21.1	609514	TAF8, TBN, NEDMLHB	TATA-box binding protein-associated factor 8	TAF8	129685	ENSG00000137413		Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, 619972 (3), Autosomal recessive	Taf8 (MGI:1926879)
chr6	42101119	42142620	6p21.1	6p21.1	620839	C6orf132, lncCCLM	Chromosome 6 open reading frame 132	C6orf132	647024	ENSG00000188112			AI661453 (MGI:2146908)
chr6	42173364	42180056	6p21.1	6p21.1	600364	GUCA1A, GCAP, COD3, CORD14	Guanylate cyclase activator 1A, retina	GUCA1A	2978	ENSG00000048545		Cone-rod dystrophy 14, 602093 (3), Autosomal dominant; Cone dystrophy-3, 602093 (3), Autosomal dominant	Guca1a (MGI:102770)
chr6	42183284	42194956	6p21.1	6p21.1	602275	GUCA1B, GCAP2, GUCA2, RP48	Guanylate cyclase activator 1B, retina	GUCA1B	2979	ENSG00000112599		Retinitis pigmentosa 48, 613827 (3), Autosomal dominant	Guca1b (MGI:1194489)
chr6	42206807	42217861	6p21.1-p12.1	6p21.1	611976	MRPS10	Mitochondrial ribosomal protein S10	MRPS10	55173	ENSG00000048544	5 pseudogenes on chromosomes 1, 3, and 9		Mrps10 (MGI:1928139)
chr6	42224931	42452224	6p21.1	6p21.1	610322	TRERF1, TREP132	Transcriptional regulating factor 1	TRERF1	55809	ENSG00000124496			Trerf1 (MGI:2442086)
chr6	42564029	42693505	6p21.1	6p21.1	609134	UBR2, C6orf133, KIAA0349	Ubiquitin-protein ligase E3 component N-recognin 2	UBR2	23304	ENSG00000024048			Ubr2 (MGI:1861099)
chr6	42696598	42722597	6p21.1-cen	6p21.1	179605	PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1	Peripherin 2	PRPH2	5961	ENSG00000112619	digenic RP with ROM1	Macular dystrophy, patterned, 1, 169150 (3), Autosomal dominant; Choroidal dystrophy, central areolar 2, 613105 (3), Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant; Leber congenital amaurosis 18, 608133 (3), Digenic dominant, Autosomal recessive, Autosomal dominant; Macular dystrophy, vitelliform, 3, 608161 (3), Autosomal dominant; Retinitis pigmentosa 7 and digenic form, 608133 (3), Digenic dominant, Autosomal recessive, Autosomal dominant	Prph2 (MGI:102791)
chr6	42744498	42746103	6p21.1	6p21.1	602971	TBCC, CFC	Tubulin-specific chaperone C	TBCC	6903	ENSG00000124659			Tbcc (MGI:1919976)
chr6	42746339	42868556	6p21.1	6p21.1	618502	BICRAL, GLTSCR1L, KIAA0240	BRD4-interacting chromatin remodeling complex-associated protein-like	BICRAL	23506	ENSG00000112624			Bicral (MGI:2673855)
chr6	42879616	42889900	6p21.1	6p21.1	617417	RPL7L1	Ribosomal protein L7-like 1	RPL7L1	285855	ENSG00000146223			Rpl7l1 (MGI:1913479)
chr6	42916053	42925838	6p21.3	6p21.1	606817	PTCRA, IMD126	Pre-T-cell receptor, alpha-chain precursor	PTCRA	171558	ENSG00000171611		Immunodeficiency 126, 620931 (3), Autosomal recessive	Ptcra (MGI:104857)
chr6	42928002	42939294	6pter-p12	6p21.1	610774	CNPY3, TNRC5, PRAT4A, ERDA5, DEE60	Canopy 3, zebrafish, homolog of	CNPY3	10695	ENSG00000137161		Developmental and epileptic encephalopathy 60, 617929 (3), Autosomal recessive	Cnpy3 (MGI:1919279)
chr6	42960754	42963880	6p12	6p21.1	606628	GNMT	Glycine N-methyltransferase	GNMT	27232	ENSG00000124713		Glycine N-methyltransferase deficiency, 606664 (3), Autosomal recessive	Gnmt (MGI:1202304)
chr6	42963865	42979181	6p21.1	6p21.1	601498	PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2	Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1)	PEX6	5190	ENSG00000124587		Peroxisome biogenesis disorder 4B, 614863 (3), Autosomal recessive, Autosomal dominant; Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3), Autosomal recessive; Heimler syndrome 2, 616617 (3), Autosomal recessive	Pex6 (MGI:2385054)
chr6	42984570	43012342	6p21.1	6p21.1	601646	PPP2R5D, MRD35, HJS1	Protein phosphatase-2, regulatory subunit B (B56), delta isoform	PPP2R5D	5528	ENSG00000112640		Houge-Janssens syndrome 1, 616355 (3), Autosomal dominant	Ppp2r5d (MGI:2388481)
chr6	43011143	43016886	6p23-q12	6p21.1	143170	MEA1, MEA	Male-enhanced antigen 1	MEA1	4201	ENSG00000124733			Mea1 (MGI:96957)
chr6	43014249	43021294	6p21.1	6p21.1	611248	KLHDC3, PEAS	Kelch domain-containing protein 3	KLHDC3	116138	ENSG00000124702			Klhdc3 (MGI:2651568)
chr6	43021623	43029599	6p21.1	6p21.1	613475	RRP36, C6orf153	Ribosomal RNA-processing factor, 36	RRP36	88745	ENSG00000124541			Rrp36 (MGI:2385053)
chr6	43037617	43053851	6p21.1	6p21.1	609577	CUL7, 3M1	Cullin 7	CUL7	9820	ENSG00000044090		3-M syndrome 1, 273750 (3), Autosomal recessive	Cul7 (MGI:1913765)
chr6	43054029	43059863	6p21.3	6p21.1	611822	MRPL2	Mitochondrial ribosomal protein L2	MRPL2	51069	ENSG00000112651			Mrpl2 (MGI:1351622)
chr6	43059631	43075093	6p21.1	6p21.1	620909	KLC4	Kinesin light chain 4	KLC4	89953	ENSG00000137171			Klc4 (MGI:1922014)
chr6	43076314	43161715	6p21.1-p12.2	6p21.1	601890	PTK7	PTK7 protein tyrosine kinase 7	PTK7	5754	ENSG00000112655			Ptk7 (MGI:1918711)
chr6	43171269	43181506	6p21.1	6p21.1	600589	SRF	Serum response factor	SRF	6722	ENSG00000112658			Srf (MGI:106658)
chr6	43182196	43224587	6p21.1	6p21.1	607489	CUL9, PARC, KIAA0708	Cullin 9	CUL9	23113	ENSG00000112659			Cul9 (MGI:1925559)
chr6	43225629	43229481	6p21.1	6p21.1	618762	DNPH1	2'-deoxynucleoside 5'-phosphate N-hydrolase 1	DNPH1	10591	ENSG00000112667			Dnph1 (MGI:3039376)
chr6	43243481	43288258	6p21.1	6p21.1	619415	TTBK1, BDTK	Tau tubulin kinase 1	TTBK1	84630	ENSG00000146216			Ttbk1 (MGI:2147036)
chr6	43295714	43305538	6p21.2-p21.1	6p21.1	604995	SLC22A7, OAT2	Solute carrier family 22 (organic anion transporter), member 7	SLC22A7	10864	ENSG00000137204			Slc22a7 (MGI:1859559)
chr6	43336070	43369647	6p21.1	6p21.1	617512	ZNF318, TZF, ZFP318	Zinc finger protein 318	ZNF318	24149	ENSG00000171467			Zfp318 (MGI:1889348)
chr6	43427541	43451994	6p21.1	6p21.1	612509	ABCC10, MRP7	ATP-binding cassette, subfamily C, member 10	ABCC10	89845	ENSG00000124574			Abcc10 (MGI:2386976)
chr6	43450352	43456632	6p21.1	6p21.1	621120	DLK2	Delta-like noncanonical notch ligand 2	DLK2	65989	ENSG00000171462			
chr6	43477570	43506554	6p21.1	6p21.1	612658	TJAP1, PILT, TJP4	Tight junction-associated protein 1	TJAP1	93643	ENSG00000137221			Tjap1 (MGI:1921344)
chr6	43511832	43516926	6p21.2-p21.1	6p21.1	609775	YIPF3, KLIP1	YIP1 domain family, member 3	YIPF3	25844	ENSG00000137207			Yipf3 (MGI:106280)
chr6	43517089	43562407	6p22.3	6p21.1	610060	POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11	Polymerase I, RNA, subunit C	POLR1C	9533	ENSG00000171453		Leukodystrophy, hypomyelinating, 11, 616494 (3), Autosomal recessive; Treacher Collins syndrome 3, 248390 (3), Autosomal recessive	Polr1c (MGI:103288)
chr6	43522334	43576038	6p21.1	6p21.1	607845	XPO5, KIAA1291	Exportin 5	XPO5	57510	ENSG00000124571			Xpo5 (MGI:1913789)
chr6	43576185	43620523	6p21.1-p12	6p21.1	603968	POLH, XPV	Polymerase, DNA, eta	POLH	5429	ENSG00000170734		Xeroderma pigmentosum, variant type, 278750 (3), Autosomal recessive	Polh (MGI:1891457)
chr6	43620494	43631333	6p21.2-p21.1	6p21.1	607434	GTPBP2, JABELS	GTP-binding protein 2	GTPBP2	54676	ENSG00000172432		Jaberi-Elahi syndrome, 617988 (3), Autosomal recessive	Gtpbp2 (MGI:1860138)
chr6	43629540	43640941	6p21.1	6p21.1	618136	MAD2L1BP	MAD2L1-binding protein	MAD2L1BP	9587	ENSG00000124688			Mad2l1bp (MGI:1913841)
chr6	43645036	43672600	6p21.1	6p21.1	612648	RSPH9, CILD12	Radial spoke head 9 homolog	RSPH9	221421	ENSG00000172426		Ciliary dyskinesia, primary, 12, 612650 (3), Autosomal recessive	Rsph9 (MGI:1922814)
chr6	43671202	43687791	6p21.3	6p21.1	611981	MRPS18A, MRPS18-3	Mitochondrial ribosomal protein S18A	MRPS18A	55168	ENSG00000096080			Mrps18a (MGI:1915815)
chr6	43770211	43786487	6p12	6p21.1	192240	VEGF, MVCD1	Vascular endothelial growth factor	VEGFA	7422	ENSG00000112715		{Microvascular complications of diabetes 1}, 603933 (3)	Vegfa (MGI:103178)
chr6	44113451	44127452	6p21.3	6p21.1	611827	MRPL14, MRPL32	Mitochondrial ribosomal protein L14	MRPL14	64928	ENSG00000180992			Mrpl14 (MGI:1333864)
chr6	44126633	44155519	6p21.1	6p21.1	619952	TMEM64B	Transmembrane protein 63B	TMEM63B	55362	ENSG00000137216			Tmem63b (MGI:2387609)
chr6	44158820	44184401	6p12	6p21.1	604822	CAPN11	Calpain 11	CAPN11	11131	ENSG00000137225			Capn11 (MGI:1352490)
chr6	44192721	44218234	6p21.1	6p21.1	619912	MYMX, CFZS2	Myomixer	MYMX	101929726	ENSG00000262179		Carey-Fineman-Ziter syndrome 2, 619941 (3), Autosomal recessive	Mymx (MGI:3649059)
chr6	44219615	44234142	6p21.2-p21.1	6p21.1	602193	SLC29A1, ENT1	Solute carrier family 29 (nucleoside transporters), member 1 (equilibrative nucleoside transporter-1)	SLC29A1	2030	ENSG00000112759			Slc29a1 (MGI:1927073)
chr6	44246194	44253883	6p21.1	6p21.1	140572	HSP90AB1, HSPCB, HSPC2, HSP90B	Heas-shock protein, 90kD, alpha, class B, member 1	HSP90AB1	3326	ENSG00000096384			Hsp90ab1 (MGI:96247)
chr6	44254101	44257890	6p12.1-p11.2	6p21.1	610788	SLC35B2, PAPST1, SLL, HLD26	Solute carrier family 35 (3'-phosphoadenosine 5'-phosphosulfate transporter), member B2	SLC35B2	347734	ENSG00000157593		Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, 620269 (3), Autosomal recessive	Slc35b2 (MGI:1921086)
chr6	44258166	44265551	6p21.1	6p21.1	604548	NFKBIE, IKBE	Nuclear factor kappa-B inhibitor, epsilon	NFKBIE	4794	ENSG00000146232			Nfkbie (MGI:1194908)
chr6	44278734	44297698	6p21.3-cen	6p21.1	186975	TCTE1	T-complex-associated-testis-expressed-1	TCTE1	202500	ENSG00000146221			Tcte1 (MGI:98640)
chr6	44298731	44313347	6p21.1	6p21.1	612035	AARS2, KIAA1270, MTALARS, COXPD8, LKENP	Alanyl-tRNA synthetase 2	AARS2	57505	ENSG00000124608		Leukoencephalopathy, progressive, with ovarian failure, 615889 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 8, 614096 (3), Autosomal recessive	Aars2 (MGI:2681839)
chr6	44387706	44450425	6p21	6p21.1	602868	CDC5L	Cell division cycle 5-like	CDC5L	988	ENSG00000096401			Cdc5l,Cdc5lrt1,Cdc5lrt10,Cdc5lrt4,Cdc5lrt5,Cdc5lrt6,Cdc5lrt7,Cdc5lrt8,Cdc5lrt9 (MGI:1918952,MGI:3643524,MGI:3644213,MGI:3644216,MGI:3647143,MGI:3647146,MGI:3647148,MGI:5591876,MGI:5591961)
chr6	44809057	45377934	6p21.1	6p21.1	602947	SUPT3H, SPT3	SPT3 homolog, SAGA and STAGA complex component	SUPT3H	8464	ENSG00000196284			Supt3 (MGI:1923723)
chr6	45328330	45551082	6p21	6p21.1	600211	RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD	Runt-related transcription factor 2	RUNX2	860	ENSG00000124813		Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3), Autosomal dominant; Cleidocranial dysplasia, 119600 (3), Autosomal dominant	Runx2 (MGI:99829)
chr6	45880827	46129819	6p21.1-p12.1	6p21.1	607293	CLIC5, DFNB103	Chloride intracellular channel 5	CLIC5	53405	ENSG00000112782	mutation identified in 1 DFNB103 family	?Deafness, autosomal recessive 103, 616042 (3), Autosomal recessive	Clic5 (MGI:1917912)
chr6	46129989	46146688	6p21.1	6p21.1	617000	ENPP4, NPP4, KIAA0879	Ectonucleotide pyrophosphatase/phosphodiesterase 4	ENPP4	22875	ENSG00000001561			Enpp4 (MGI:2682634)
chr6	46159185	46170980	6p21.1	6p21.1	617001	ENPP5, NPP5	Ectonucleotide pyrophosphatase/phosphodiesterase 5	ENPP5	59084	ENSG00000112796			Enpp5 (MGI:1933830)
chr6	46200001	69200000	6p12-q12		609026	CTRCT28, ARCC1	Cataract 28		493862			{Cataract 28, age-related cortical, susceptibility to}, 609026 (2)	
chr6	46200001	57200000	6p12		164100	NYS2, NYSA	Nystagmus 2, congenital, autosomal dominant		4933			Nystagmus 2, congenital, autosomal dominant, 164100 (2), Autosomal dominant	
chr6	46220736	46491970	6p12.3	6p12.3	604876	RCAN2, ZAKI4, DSCR1L1, MCIP2, CSP2	Regulator of calcineurin 2	RCAN2	10231	ENSG00000172348			Rcan2 (MGI:1858219)
chr6	46549580	46652818	6p21.1-p11.2	6p12.3	605994	CYP39A1	Cytochrome P450, subfamily XXXIXA (oxysterol 7-alpha-hydroxylase), polypeptide 1	CYP39A1	51302	ENSG00000146233			Cyp39a1 (MGI:1927096)
chr6	46652975	46678190	6p12.3	6p12.3	613725	SLC25A27, UCP4	Solute carrier family 25, member 17	SLC25A27	9481	ENSG00000153291			Slc25a27 (MGI:1921261)
chr6	46680268	46704319	6p12.3	6p12.3	611200	TDRD6	TUDOR domain-containing protein 6	TDRD6	221400	ENSG00000180113			Tdrd6 (MGI:2679727)
chr6	46704201	46735721	6p21.2-p12	6p12.3	601690	PLA2G7, PAFAH, PAFAD	Phospholipase A2, group VII (platelet-activating factor acetylhydrolase)	PLA2G7	7941	ENSG00000146070		Platelet-activating factor acetylhydrolase deficiency, 614278 (3), Autosomal recessive	Pla2g7 (MGI:1351327)
chr6	46793389	46845984	6p21.2-p21.1	6p12.3	600388	MEP1A	Meprin A, alpha	MEP1A	4224	ENSG00000112818			Mep1a (MGI:96963)
chr6	46852522	46954939	6p12.3	6p12.3	620874	ADGRF5, GPR116	Adhesion G protein-coupled receptor F5	ADGRF5	221395	ENSG00000069122			Adgrf5 (MGI:2182928)
chr6	46997708	47042332	6p12.3	6p12.3	617430	ADGRF1, GPR110	Adhesion G protein-coupled receptor F1	ADGRF1	266977	ENSG00000153292			Adgrf1 (MGI:1924846)
chr6	47231532	47309905	6p12.3	6p12.3	605732	TNFRSF21, DR6	Tumor necrosis factor receptor superfamily, member 21	TNFRSF21	27242	ENSG00000146072			Tnfrsf21 (MGI:2151075)
chr6	47477789	47627263	6p12	6p12.3	604241	CD2AP, CMS	CD2-associated protein	CD2AP	23607	ENSG00000198087		Glomerulosclerosis, focal segmental, 3, 607832 (3)	Cd2ap (MGI:1330281)
chr6	47656472	47697794	6p12.3	6p12.3	620872	ADGRF2, GPR111	Adhesion G protein-coupled receptor F2	ADGRF2P	222611				Adgrf2 (MGI:2182728)
chr6	47698580	47722014	6p12.3	6p12.3	614268	ADGRF4, GPR115	Adhesion G protein-coupled receptor F4	ADGRF4	221393	ENSG00000153294			Adgrf4 (MGI:1925499)
chr6	47782032	47826381	6p12.3	6p12.3	609042	OPN5, GRP136, PGR12	Opsin 5	OPN5	221391	ENSG00000124818			Opn5 (MGI:2662912)
chr6	47856673	48111197	6p12.3	6p12.3	616908	PTCHD4, PTCH53, C6orf138	Patched domain-containing protein 4	PTCHD4	442213	ENSG00000244694			Ptchd4 (MGI:1920485)
chr6	49430360	49463253	6p21	6p12.3	609058	MMUT, MUT, MCM	Methylmalonyl-CoA mutase	MMUT	4594	ENSG00000146085		Methylmalonic aciduria, mut(0) type, 251000 (3), Autosomal recessive	Mmut (MGI:97239)
chr6	49463370	49493107	6p12.3	6p12.3	611506	CENPQ	Centromeric protein Q	CENPQ	55166	ENSG00000031691			Cenpq (MGI:1933744)
chr6	49499923	49528078	6p12.3	6p12.3	614763	GLYATL3	Glycine N-acyltransferase-like 3	GLYATL3	389396	ENSG00000203972			Glyatl3 (MGI:3647683)
chr6	49605175	49636839	6p21.1-p11	6p12.3	180297	RHAG, RH50A, OHST, RHNR	Rhesus blood group-associated glycoprotein	RHAG	6005	ENSG00000112077		Overhydrated hereditary stomatocytosis, 185000 (3), Autosomal dominant; Anemia, hemolytic, Rh-null, regulator type, 268150 (3), Autosomal recessive	Rhag (MGI:1202713)
chr6	49676652	49714220	6p12	6p12.3	187430	CRISP2, TPX1, TSP1	Cysteine-rich secretory protein 2	CRISP2	7180	ENSG00000124490			Crisp2 (MGI:98815)
chr6	49727376	49744388	6p12.3	6p12.3	618062	CRISP3, SGP28	Cysteine-rich secretory protein 3	CRISP3	10321	ENSG00000096006			Crisp1 (MGI:102553)
chr6	49785660	49787285	6p21.1-p12	6p12.3	172270	PGK2	Phosphoglycerate kinase-2 (testicular PGK)	PGK2	5232	ENSG00000170950	pseudogene on chr.12		Pgk2 (MGI:97563)
chr6	49834257	49877096	6p21.2-p21.1	6p12.3	601193	CRISP1, AEGL1	Cysteine-rich secretory protein 1	CRISP1	167	ENSG00000124812			Crisp4 (MGI:1925331)
chr6	49960249	49964164	6p12	6p12.3	615243	DEFB114, DEFB14	Defensin, beta, 114	DEFB114	245928	ENSG00000177684			
chr6	50713526	50773033	6p21.1-p12.1	6p12.3	610161	TFAP2D, TFAP2BL1	Transcription factor AP2-delta	TFAP2D	83741	ENSG00000008197			Tfap2d (MGI:2153466)
chr6	50818355	50847619	6p12	6p12.3	601601	TFAP2B, CHAR, PDA2	Transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)	TFAP2B	7021	ENSG00000008196		Patent ductus arteriosus 2, 617035 (3), Autosomal dominant; Char syndrome, 169100 (3), Autosomal dominant	Tfap2b (MGI:104672)
chr6	51615299	52087615	6p12.3-p12.2	6p12.3-p12.2	606702	PKHD1, PCYT, ARPKD, PKD4	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	PKHD1	5314	ENSG00000170927		Polycystic kidney disease 4, with or without hepatic disease, 263200 (3), Autosomal recessive	Pkhd1 (MGI:2155808)
chr6	51800001	69200000	6p12.2-q12		614345	MRT24	Intellectual developmental disorder, autosomal recessive 24		100852402		between rs651733 and rs1508668	Intellectual developmental disorder, autosomal recessive 24, 614345 (2), Autosomal recessive	
chr6	52144349	52144434	6p12.2	6p12.2	611599	MIR206, MIRN206	Micro RNA 206	MIR206	406989	ENSG00000207604			Mir206 (MGI:2676881)
chr6	52146814	52151023	6p12.2	6p12.2	614933	LINCMD1	Long intergenic noncoding RNA, muscle differentiation 1	LINCMD1	101154644				
chr6	52148923	52149041	6p12.2	6p12.2	610946	MIR133B, MIRN133B	Micro RNA 133B	MIR133B	442890	ENSG00000199080			Mir133b (MGI:3618720)
chr6	52186375	52190638	6p12.2	6p12.2	603149	IL17A, IL17, CTLA8	Interleukin-17a	IL17A	3605	ENSG00000112115	previously mapped to 2q31		Il17a (MGI:107364)
chr6	52236681	52245689	6p12	6p12.2	606496	IL17F, ML1, CANDF6	Interleukin 17F	IL17F	112744	ENSG00000112116	mutation identified in 1 CANDF6 family	?Candidiasis, familial, 6, autosomal dominant, 613956 (3)	Il17f (MGI:2676631)
chr6	52264015	52284742	6p12	6p12.2	602693	MCM3	Minichromosome maintenance complex component 3	MCM3	4172	ENSG00000112118			Mcm3 (MGI:101845)
chr6	52362151	52407777	6p12	6p12.2	607780	PAQR8, C6orf33, LMPB1, MPRB	Progestin and ADIPOQ receptor family, member 8	PAQR8	85315	ENSG00000170915			Paqr8 (MGI:1921479)
chr6	52420342	52497198	6p12-p11	6p12.2	608815	EFHC1, FLJ10466, EJM1, JAE, EJA1	EF hand domain (C-terminal)-containing 1	EFHC1	114327	ENSG00000096093		{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3), Autosomal dominant; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3), Autosomal dominant	Efhc1 (MGI:1919127)
chr6	52497408	52577060	6p12.2	6p12.2	608485	TRAM2, KIAA0057	Translocation-associated membrane protein 2	TRAM2	9697	ENSG00000065308			Tram2 (MGI:1924817)
chr6	52671113	52686588	6p12.2	6p12.2	616870	TMEM14A	Transmembrane protein 14A	TMEM14A	28978	ENSG00000096092			Tmem14a (MGI:1922962)
chr6	52750087	52763475	6p12.2	6p12.2	138360	GSTA2, GST2	Glutathione S-transferase A2	GSTA2	2939	ENSG00000244067			Gsta1,Gsta13,Gsta2,Gsta5 (MGI:1095417,MGI:3704339,MGI:3826440,MGI:95863)
chr6	52791371	52803816	6p12.2	6p12.2	138359	GSTA1	Glutathione S-transferase A1	GSTA1	2938	ENSG00000243955			Gsta1,Gsta13,Gsta2,Gsta5 (MGI:1095417,MGI:3704339,MGI:3826440,MGI:95863)
chr6	52831692	52846245	6p12.2	6p12.2	607605	GSTA5	Glutathione S-transferase, alpha-5	GSTA5	221357	ENSG00000182793			Gsta1,Gsta13,Gsta2,Gsta3,Gsta5 (MGI:1095417,MGI:3704339,MGI:3826440,MGI:95856,MGI:95863)
chr6	52896646	52909698	6p12.2	6p12.2	605449	GSTA3	Glutathione S-transferase, alpha-3	GSTA3	2940	ENSG00000174156			Gsta1,Gsta13,Gsta2,Gsta3,Gsta5 (MGI:1095417,MGI:3704339,MGI:3826440,MGI:95856,MGI:95863)
chr6	52977953	52995284	6p12.2	6p12.2	605450	GSTA4	Glutathione S-transferase, alpha-4	GSTA4	2941	ENSG00000170899			
chr6	52995620	52995951	6p12.1	6p12.2	606515	RN7SK, 7SK	RNA, 7SK small nuclear	RN7SK	125050	ENSG00000202198			Rn7sk (MGI:103186)
chr6	53001303	53061824	6p12.3	6p12.1	612325	ICK, MRK, KIAA0936, ECO, EJM10	Intestinal cell kinase	CILK1	22858	ENSG00000112144		{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3), Autosomal dominant; Endocrine-cerebroosteodysplasia, 612651 (3), Autosomal recessive	Cilk1 (MGI:1934157)
chr6	53064998	53100873	6p12.3-p11.2	6p12.1	609091	FBXO9, FBX9	F-box only protein 9	FBXO9	26268	ENSG00000112146			Fbxo9 (MGI:1918788)
chr6	53126961	53148841	6p12.1	6p12.1	603715	GCM1, GCMA	Glial cells missing transcription factor 1	GCM1	8521	ENSG00000137270			Gcm1 (MGI:108045)
chr6	53267404	53348950	6p12	6p12.1	611805	ELOVL5, HELO1, SCA38	Elongation of very long chain fatty acids-like 5	ELOVL5	60481	ENSG00000012660		Spinocerebellar ataxia 38, 615957 (3), Autosomal dominant	Elovl5 (MGI:1916051)
chr6	53497341	53545101	6p12	6p12.1	606857	GCLC, GLCLC, CNSHA7	Glutamate-cysteine ligase, catalytic subunit	GCLC	2729	ENSG00000001084		{Myocardial infarction, susceptibility to}, 608446 (3); Anemia, congenital, nonspherocytic hemolytic, 7, 230450 (3), Autosomal recessive	Gclc (MGI:104990)
chr6	53647916	53665756	6p12	6p12.1	610749	KLHL31, KLHL	Kelch-like 31	KLHL31	401265	ENSG00000124743			Klhl31 (MGI:3045305)
chr6	53795005	53924125	6p12.3-p12.2	6p12.1	608195	LRRC1, LANO	Leucine-rich repeat-containing protein 1	LRRC1	55227	ENSG00000137269			Lrrc1 (MGI:2442313)
chr6	54018970	54266280	6p12.1	6p12.1	614106	MLIP, C6orf142, MMCKR	Muscular LMNA-interating protein	MLIP	90523	ENSG00000146147		Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, 620138 (3), Autosomal recessive	Mlip (MGI:1916892)
chr6	54307862	54390142	6p12-p11.2	6p12.1	606749	TINAG, TIN1, TIN2	Tubulointerstitial nephritis antigen	TINAG	27283	ENSG00000137251			Tinag (MGI:1349477)
chr6	55106469	55284713	6p12.1	6p12.1	602393	HCRTR2, OX2R	Hypocretin receptor 2	HCRTR2	3062	ENSG00000137252			Hcrtr2 (MGI:2680765)
chr6	55327469	55402493	6p12.1	6p12.1	617837	GFRAL, GRAL	GDNF family receptor alpha-like protein	GFRAL	389400	ENSG00000187871			Gfral (MGI:3607786)
chr6	55434373	55678919	6p12.1	6p12.1	619050	HMGCLL1, ERCHL	3-hydroxy-3-methylglutaryl-CoA lyase-like protein 1	HMGCLL1	54511	ENSG00000146151			Hmgcll1 (MGI:2446108)
chr6	55753653	55875590	6p12.1	6p12.1	112265	BMP5	Bone morphogenetic protein-5	BMP5	653	ENSG00000112175			Bmp5 (MGI:88181)
chr6	56056590	56394128	6p12.3-p11.2	6p12.1	610002	COL21A1	Collagen, type XXI, alpha-1 polypeptide	COL21A1	81578	ENSG00000124749			
chr6	56457996	56954830	6p12-p11	6p12.1	113810	DST, BPAG1, DMH, D6S1101, HSAN6, EBS3	Dystonin (bullous pemphigoid antigen 1)	DST	667	ENSG00000151914		Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3), Autosomal recessive; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency, 615425 (3), Autosomal recessive	Dst (MGI:104627)
chr6	57090188	57170305	6p12.1	6p12.1	615708	ZNF451, COASTER	Zinc finger protein 451	ZNF451	26036	ENSG00000112200			Zfp451 (MGI:2137896)
chr6	57172326	57189833	6p12.1	6p12.1	603882	BAG2	BAG cochaperone 2	BAG2	9532	ENSG00000112208			Bag2 (MGI:1891254)
chr6	57186992	57222307	6p11	6p12.1-p11.2	606144	RAB23	Ras-associated protein RAB23	RAB23	51715	ENSG00000112210		Carpenter syndrome, 201000 (3), Autosomal recessive	Rab23 (MGI:99833)
chr6	57200001	59800000	6p11		608173	AITD1	Autoimmune thyroid disease, susceptibility to, 1		387578			{Autoimmune thyroid disease, susceptibility to, 1}, 608173 (2)	
chr6	57221540	57646850	6p12-p11.1	6p11.2	176636	PRIM2A	Primase polypeptide 2A, 58kD	PRIM2	5558	ENSG00000146143			Prim2 (MGI:97758)
chr6	59800001	170805979	6q		193007	BPPV	Vertigo, benign paroxysmal positional		619536		max lod at D6S1556	Vestibulopathy, familial, 193007 (2), Autosomal dominant	
chr6	59800001	87300000	6q11-q14		613544	DEL6q11q14, C6DELq11q14	Chromosome 6q11-q14 deletion syndrome				contiguous gene deletion syndrome	Chromosome 6q11-q14 deletion syndrome, 613544 (4), Isolated cases	
chr6	61542670	62286225	6q11.1	6q11.1	610487	KHDRBS2, SLM1	KH domain-containing, RNA-binding, signal transduction-associated protein 2	KHDRBS2	202559	ENSG00000112232			Khdrbs2 (MGI:2159649)
chr6	62700001	69200000	6q12		608905	ADHD3	Attention deficit-hyperactivity disorder, susceptibility to, 3		450089			{Attention deficit-hyperactivity disorder, susceptibility to, 3}, 608905 (2)	
chr6	62700001	105000000	6q12-q16		605582	CMD1K	Cardiomyopathy, dilated, 1K		65014			Cardiomyopathy, dilated, 1K, 605582 (2)	
chr6	62700001	92500000	6q12-q15		614342	MRT30	Intellectual developmental disorder, autosomal recessive 30		100852401		between rs4612125 and rs285651	Intellectual developmental disorder, autosomal recessive 30, 614342 (2), Autosomal recessive	
chr6	63275951	63573607	6q12	6q12	611470	GLULD1, LGS	Glutamate-ammonia ligase (glutamine synthetase) domain-containing 1	LGSN	51557	ENSG00000146166			Lgsn (MGI:2672844)
chr6	63516440	63583588	6q12	6q12	601585	PTP4A1, HH72, PRL1	Protein tyrosine phosphatase, type 4A, 1	PTP4A1	7803	ENSG00000112245			Ptp4a1 (MGI:1277096)
chr6	63635802	63726011	6q12	6q12	607789	PHF3, KIAA0244	PHD finger protein 3	PHF3	23469	ENSG00000118482			Phf3 (MGI:2446126)
chr6	63719980	65707226	6q12	6q12	612424	EYS, RP25	Eyes shut, Drosophila, homolog of	EYS	346007	ENSG00000188107		Retinitis pigmentosa 25, 602772 (3), Autosomal recessive	
chr6	68635282	69389506	6q12	6q12-q13	602684	ADGRB3, BAI3	Adhesion G protein-coupled receptor B3	ADGRB3	577	ENSG00000135298			Adgrb3 (MGI:2441837)
chr6	69200001	98900000	6q13-q16.1		611572	OTSC7	Otosclerosis 7		399516		between D6S1036 and D6S300	Otosclerosis 7, 611572 (2), Autosomal dominant	
chr6	69200001	164100000	6q13-q26		603175	SCZD5	Schizophrenia susceptibility locus, chromosome 6q-related				max lod at D6S1626 and D6S292	{Schizophrenia}, 181500 (2), Autosomal dominant	
chr6	69674010	69797010	6q13	6q13	612625	LMBRD1, LMBD1, NESI, MAHCF	LMBR1 domain-containing protein 1	LMBRD1	55788	ENSG00000168216		Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3), Autosomal recessive	Lmbrd1 (MGI:1915671)
chr6	69866556	70212468	6q12-q14	6q13	120165	COL19A1, D6S228E, COL9A1L	Collagen XIX, alpha-1 polypeptide	COL19A1	1310	ENSG00000082293			Col19a1 (MGI:1095415)
chr6	70215061	70303084	6q13	6q13	120210	COL9A1, EDM6, STL4	Collagen IX, alpha-1 polypeptide	COL9A1	1297	ENSG00000112280	mutation identified in 1 EDM6 family	Stickler syndrome, type IV, 614134 (3), Autosomal recessive; ?Epiphyseal dysplasia, multiple, 6, 614135 (3), Autosomal dominant	Col9a1 (MGI:88465)
chr6	70566930	70598428	6q13	6q13	619198	SDHAF4, SDH8, C6orf57	Succinate dehydrogenase complex assembly factor 4	SDHAF4	135154	ENSG00000154079			Sdhaf4 (MGI:1915252)
chr6	70667883	70862015	6q13	6q13	611372	SMAP1	Small ADP-ribosylation factor GTPase-activating protein 1	SMAP1	60682	ENSG00000112305			Smap1 (MGI:2138261)
chr6	70856679	70957060	6q13	6q13	607497	GLCATS, KIAA1963	UDP-glucuronyltransferase S	B3GAT2	135152	ENSG00000112309			B3gat2 (MGI:2389490)
chr6	71403551	71403621	6q13	6q13	612329	MIR30A, MIRN30A	Micro RNA 30A	MIR30A	407029	ENSG00000207827			Mir30a (MGI:2676907)
chr6	71407864	71420745	6q13	6q13	620059	LINC0472, P53RRA	Long intergenic noncoding RNA 472	LINC00472	79940	ENSG00000233237			
chr6	71886550	72403145	6q12-q13	6q13	606629	RIMS1, RIM1, RIM, KIAA0340	Regulating synaptic membrane exocytosis 1	RIMS1	22999	ENSG00000079841			Rims1 (MGI:2152971)
chr6	72622064	73198853	6q14	6q13	607357	KCNQ5, MRD46	Potassium channel, voltage-gated, KQT-like subfamily, member 5	KCNQ5	56479	ENSG00000185760		Intellectual developmental disorder, autosomal dominant 46, 617601 (3), Autosomal dominant	Kcnq5 (MGI:1924937)
chr6	73241314	73310378	6q13	6q13	611688	KHDC1	KH domain-containing protein 1	KHDC1	80759	ENSG00000135314			Khdc1a,Khdc1b,Khdc1c (MGI:2138477,MGI:2676610,MGI:3583007)
chr6	73353063	73354276	6q13	6q13	611111	DPPA5, ESG1	Developmental pluripotency-associated gene 5	DPPA5	340168	ENSG00000203909			Dppa5a,Dppa5b,Dppa5c (MGI:101800,MGI:3765340,MGI:3765342)
chr6	73362658	73364171	6q13	6q13	611687	KHDC3L, C6orf221, ECAT1, HYDM2	KH domain containing 3-like, subcortical maternal complex member	KHDC3L	154288	ENSG00000203908		Hydatidiform mole, recurrent, 2, 614293 (3), Autosomal recessive	Khdc3 (MGI:1914241)
chr6	73368555	73395163	6q13	6q13	611689	OOEP, KHDC2	Oocyte-expressed protein	OOEP	441161	ENSG00000203907			Ooep (MGI:1915218)
chr6	73394828	73417566	6q12-q13	6q13	606286	DDX43, HAGE	DEAD-box helicase 43	DDX43	55510	ENSG00000080007			Ddx43 (MGI:3642857)
chr6	73423711	73452297	6q13	6q13	613973	CGAS, MB21D1, C6orf150	Cyclic GMP-AMP synthase	CGAS	115004	ENSG00000164430			Cgas (MGI:2442261)
chr6	73461737	73509236	6q13	6q13	614667	MTO1, COXPD10	Mitochondrial tRNA translation optimization 1	MTO1	25821	ENSG00000135297		Combined oxidative phosphorylation deficiency 10, 614702 (3), Autosomal recessive	Mto1 (MGI:1915541)
chr6	73515750	73521032	6q14	6q13	130590	EEF1A1, EF1A	Eukaryotic translation elongation factor-1, alpha-1	EEF1A1	1915	ENSG00000156508			Eef1a1 (MGI:1096881)
chr6	73593379	73653992	6q14-q15	6q13	604322	SLC17A5, SIASD, SLD	Solute carrier family 17 (sodium phosphate), member 5	SLC17A5	26503	ENSG00000119899		Salla disease, 604369 (3), Autosomal recessive; Sialic acid storage disorder, infantile, 269920 (3), Autosomal recessive	Slc17a5 (MGI:1924105)
chr6	73679192	73828313	6q13	6q13	608859	CD109	CD109 antigen	CD109	135228	ENSG00000156535			Cd109 (MGI:2445221)
chr6	75084326	75206053	6q13-q14.1	6q13-q14.1	120320	COL12A1, UCMD2, BTHLM2, EDSMYP	Collagen, type XII, alpha-1	COL12A1	1303	ENSG00000111799	mutation identified in 1 UCMD2 family	Bethlem myopathy 2, 616471 (3), Autosomal dominant; ?Ullrich congenital muscular dystrophy 2, 616470 (3), Autosomal recessive	Col12a1 (MGI:88448)
chr6	75200001	105000000	6q14-q16		608988	ATFB2	Atrial fibrillation, familial, 2		619478		max lod between  D6S286 and D6S1021	Atrial fibrillation, familial, 2, 608988 (2)	
chr6	75200001	87300000	6q14		603649	CORD7	Cone-rod dystrophy 7				maximum LOD at D6S280	Cone-rod dystrophy 7, 603649 (2), Autosomal dominant	
chr6	75200001	83200000	6q14.1		610685	SHFLD2	Split-hand/foot malformation with long bone deficiency 2		791123		between rs623155 and rs1547251	Split-hand/foot malformation with long bone deficiency 2, 610685 (2)	
chr6	75237675	75250298	6q12	6q14.1	123996	COX7A2	Cytochrome c oxidase, subunit VIIa, polypeptide-2, liver	COX7A2	1347	ENSG00000112695	previously thought to be on chr.4		Cox7a2 (MGI:1316715)
chr6	75252924	75284792	6q14.1	6q14.1	611028	TMEM30A, CDC50A	Transmembrane protein 30A	TMEM30A	55754	ENSG00000112697			Tmem30a (MGI:106402)
chr6	75291859	75493800	6q14.1	6q14.1	607307	FILIP1, KIAA1275, NMDF	Filamin A-interacting protein	FILIP1	27145	ENSG00000118407		Neuromuscular disorder, congenital, with dysmorphic facies, 620775 (3), Autosomal recessive	Filip1 (MGI:1917848)
chr6	75601880	75718281	6q13	6q14.1	605003	SENP6, SSP1, SUSP1	Sentrin-specific protease family, member 6	SENP6	26054	ENSG00000112701			Senp6 (MGI:1922075)
chr6	75749239	75919537	6q13	6q14.1	600970	MYO6, DFNA22, DFNB37	Myosin VI	MYO6	4646	ENSG00000196586		Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3), Autosomal dominant; Deafness, autosomal dominant 22, 606346 (3), Autosomal dominant; Deafness, autosomal recessive 37, 607821 (3), Autosomal recessive	Myo6 (MGI:104785)
chr6	75921114	76072662	6q13-q15	6q14.1	602870	IMPG1, IPM150, VMD4, RP91	Interphotoreceptor matrix proteoglycan-1	IMPG1	3617	ENSG00000112706		Macular dystrophy, vitelliform, 4, 616151 (3), Autosomal recessive, Autosomal dominant; Retinitis pigmentosa 91, 153870 (3), Autosomal dominant	Impg1 (MGI:1926876)
chr6	77460924	77463491	6q13	6q14.1	182131	HTR1B	5-hydroxytryptamine (serotonin) receptor-1B	HTR1B	3351	ENSG00000135312			Htr1b (MGI:96274)
chr6	77650274	77927045	6q14.1	6q14.1	618417	MEI4	Meiotic double-stranded break formation protein 4	MEI4	101928601	ENSG00000269964			Mei4 (MGI:1922283)
chr6	78867551	78979411	6q14.1	6q14.1	615375	IRAK1BP1, SIMPL	Interleukin 1 receptor-associated kinase 1-binding protein 1	IRAK1BP1	134728	ENSG00000146243			Irak1bp1 (MGI:1929475)
chr6	78934419	79078254	6q14	6q14.1	612870	PHIP, CHUJANS, DIDOD	Pleckstrin homology domain-interacting protein	PHIP	55023	ENSG00000146247		Chung-Jansen syndrome, 617991 (3), Autosomal dominant	Phip (MGI:1932404)
chr6	79201245	79234682	6q14.1	6q14.1	604502	HMGN3, TRIP7	High-mobility group nucleosomal binding protein 3 (thyroid hormone receptor interactor 7)	HMGN3	9324	ENSG00000118418			Hmgn3 (MGI:2138069)
chr6	79484991	79538782	6q14.1	6q14.1	611408	LCA5, C6orf152	Lebercilin	LCA5	167691	ENSG00000135338		Leber congenital amaurosis 5, 604537 (3), Autosomal recessive	Lca5 (MGI:1923032)
chr6	79537633	79703655	6q14.1	6q14.1	615678	SH3BGRL2	SH3 domain-binding glutamic acid-rich protein-like protein 2	SH3BGRL2	83699	ENSG00000198478			Sh3bgrl2 (MGI:1915350)
chr6	79914814	79947553	6q14	6q14.1	605512	ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34	Elongation of very long chain fatty acids 4	ELOVL4	6785	ENSG00000118402		Spinocerebellar ataxia 34, 133190 (3), Autosomal dominant; Stargardt disease 3, 600110 (3), Autosomal dominant; Ichthyosis, spastic quadriplegia, and impaired intellectual development, 614457 (3), Autosomal recessive	Elovl4 (MGI:1933331)
chr6	80004649	80042527	6q13-q21	6q14.1	604092	TTK, MPS1L1, PYT	TTK protein kinase	TTK	7272	ENSG00000112742			Ttk (MGI:1194921)
chr6	80106610	80466676	6q14	6q14.1	248611	BCKDHB, E1B, MSUD1B	Branched chain keto acid dehydrogenase E1, beta polypeptide	BCKDHB	594	ENSG00000083123		Maple syrup urine disease, type Ib, 620698 (3), Autosomal recessive	Bckdhb (MGI:88137)
chr6	81745730	81752681	6q14	6q14.1	611357	TENT5A, FAM46A, C6orf37, OI18	Terminal nucleotidyltransferase 5A	TENT5A	55603	ENSG00000112773		Osteogenesis imperfecta, type XVIII, 617952 (3), Autosomal recessive	Tent5a (MGI:2670964)
chr6	82169987	82247744	6q13-q14	6q14.1	606457	IBTK	Inhibitor of Bruton agammaglobulinemia tyrosine kinase	IBTK	25998	ENSG00000005700			Ibtk (MGI:1918677)
chr6	82362983	82367420	6q14-q15	6q14.1	190920	TPBG	Trophoblast glycoprotein	TPBG	7162	ENSG00000146242			Tpbg (MGI:1341264)
chr6	82880802	83065841	6q14.1	6q14.1	612495	UBE3D, UBE2CBP, H10BH	Ubiquitin protein ligase E3D	UBE3D	90025	ENSG00000118420			Ube3d (MGI:1917598)
chr6	83067671	83171350	6q14.1	6q14.1	616823	DOP1A, DOPEY1, DOP1, KIAA1117	DOP1 leucine zipper-like protein A	DOP1A	23033	ENSG00000083097			Dop1a (MGI:1289294)
chr6	83148705	83193900	6q12	6q14.1	172100	PGM3, AGM1, IMD23	Phosphoglucomutase-3 (N-acetylglucosamine-phosphate mutase 1)	PGM3	5238	ENSG00000013375		Immunodeficiency 23, 615816 (3), Autosomal recessive	Pgm3 (MGI:97566)
chr6	83210402	83431051	6q12	6q14.2	154250	ME1	Malic enzyme, cytoplasmic	ME1	4199	ENSG00000065833			Me1 (MGI:97043)
chr6	83552885	83709393	6q14.2	6q14.2	607923	SNAP91, AP180, KIAA0656	Synaptosomal-associated protein, 91kD	SNAP91	9892	ENSG00000065609			Snap91 (MGI:109132)
chr6	83853229	83857515	6q14.2	6q14.2	609891	RIPPLY2, C6orf59, SCDO6	Ripply transcriptional repressor 2	RIPPLY2	134701	ENSG00000203877	mutation identified in 1 SCDO6 family	?Spondylocostal dysostosis 6, 616566 (3), Autosomal recessive	Ripply2 (MGI:2685968)
chr6	83859689	83967423	6q14-q15	6q14.2	608343	CYB5R4, NCB5OR	Cytochrome b5 reductase 4	CYB5R4	51167	ENSG00000065615			Cyb5r4 (MGI:2386848)
chr6	84033178	84146282	6q14.2	6q14.2	615410	MRAP2, C6orf117, BMIQ18	Melanocortin 2 receptor accessory protein 2	MRAP2	112609	ENSG00000135324	mutation identified in 1 BMIQ18 individual	{?Obesity, susceptibility to, BMIQ18}, 615457 (3), Autosomal dominant	Mrap2 (MGI:3609239)
chr6	84124250	84227643	6q14.2-q14.3	6q14.2-q14.3	610201	CEP162, KIAA1009	Centrosomal protein, 162kD	CEP162	22832	ENSG00000135315			Cep162 (MGI:1925343)
chr6	84732496	84764598	6q14.3	6q14.3	604613	TBX18, CAKUT2	T-box 18	TBX18	9096	ENSG00000112837		Congenital anomalies of kidney and urinary tract 2, 143400 (3), Autosomal dominant	Tbx18 (MGI:1923615)
chr6	85450083	85495784	6q14-q21	6q14.3	129190	NT5E, NT5	5' nucleotidase, ecto (CD73)	NT5E	4907	ENSG00000135318		Calcification of joints and arteries, 211800 (3), Autosomal recessive	Nt5e (MGI:99782)
chr6	85505496	85593858	6q14.3	6q14.3	616105	SNX14, SCAR20	Sorting nexin 14	SNX14	57231	ENSG00000135317		Spinocerebellar ataxia, autosomal recessive 20, 616354 (3), Autosomal recessive	Snx14 (MGI:2155664)
chr6	85607784	85643870	6q14.3	6q14.3	616686	SYNCRIP, NSAP1, GRYRBP, HNRNPQ	Synaptotagmin-binding cytoplasmic RNA-interacting protein	SYNCRIP	10492	ENSG00000135316			Syncrip (MGI:1891690)
chr6	85677007	85678733	6q15	6q14.3	613263	SNHG5, U50HG	Small nucleolar RNA host gene 5	SNHG5	387066	ENSG00000203875			Snhg5 (MGI:1919905)
chr6	85677294	85677368	6q15	6q14.3	613117	SNORD50A, RNU50	Small nucleolar RNA, C/D box, 50A	SNORD50A	26799				
chr6	85677589	85677659	6q15	6q14.3	613264	SNORD50B	Small nucleolar RNA, C/D box	SNORD50B	692088	ENSG00000275072			
chr6	86937528	87016679	6q14-q15	6q14.3	182132	HTR1E	5-hydroxytryptamine (serotonin) receptor-1E	HTR1E	3354	ENSG00000168830			
chr6	87085498	87095106	6q12-q21	6q14.3	118850	CGA	Chorionic gonadotropin, alpha polypeptide	CGA	1081	ENSG00000135346	shared with LH, FSH, TSH		Cga (MGI:88390)
chr6	87155565	87265943	6q14.3	6q14.3	616213	ZNF292, ZFP292, KIAA0530, MRD64	Zinc finger protein 292	ZNF292	23036	ENSG00000188994		Intellectual developmental disorder, autosomal dominant 64, 619188 (3), Autosomal dominant	Zfp292 (MGI:1353423)
chr6	87282980	87329278	6q15	6q14.3-q15	611921	GJB7, CX25	Gap junction protein, beta-7	GJB7	375519	ENSG00000164411			
chr6	87472974	87512336	6q15	6q15	605634	SLC35A1, CST, CDG2F	Solute carrier family 35 (CMP-sialic acid transporter), member 1	SLC35A1	10559	ENSG00000164414		Congenital disorder of glycosylation, type IIf, 603585 (3), Autosomal recessive	Slc35a1 (MGI:1345622)
chr6	87513938	87589987	6q16.1	6q15	611524	RARS2, RARSL, PCH6	Arginyl-tRNA synthetase 2	RARS2	57038	ENSG00000146282		Pontocerebellar hypoplasia, type 6, 611523 (3), Autosomal recessive	Rars2 (MGI:1923596)
chr6	87590135	87677823	6q15	6q15	604972	ORC3, ORC3L, LAT	Origin recognition complex, subunit 3	ORC3	23595	ENSG00000135336			Orc3 (MGI:1354944)
chr6	87674860	87702233	6q15	6q15	615165	AKIRIN2	Akirin 2	AKIRIN2	55122	ENSG00000135334			Akirin2 (MGI:1889364)
chr6	88046901	88066838	6q15	6q15	612739	SPACA1, SAMP32, SPGF85	Sperm acrosome-associated 1	SPACA1	81833	ENSG00000118434	mutation identified in 1 SPGF85 family	?Spermatogenic failure 85, 620490 (3), Autosomal recessive	Spaca1 (MGI:1914902)
chr6	88139864	88167349	6q14-q15	6q15	114610	CNR1	Cannabinoid receptor-1, brain	CNR1	1268	ENSG00000118432			Cnr1 (MGI:104615)
chr6	88609897	88963618	6q16	6q15	603512	RNGTT, HCE1, CAP1A	RNA guanylyltransferase and 5'-phosphatase	RNGTT	8732	ENSG00000111880			Rngtt (MGI:1329041)
chr6	89080751	89085160	6q15	6q15	606714	PNRC1, PROL2	Proline-rich nuclear receptor coactivator 1	PNRC1	10957	ENSG00000146278			Pnrc1 (MGI:1917838)
chr6	89093940	89165565	6q15	6q15	615913	PM20D2, ACY1L2	Peptidase M20 domain-containing 2	PM20D2	135293	ENSG00000146281			Pm20d2 (MGI:2685270)
chr6	89177504	89231288	6q14-q21	6q15	137161	GABRR1	Gamma-aminobutyric acid (GABA) A receptor, rho-1	GABRR1	2569	ENSG00000146276			Gabrr1 (MGI:95625)
chr6	89254464	89315299	6q14-q21	6q15	137162	GABRR2	Gamma-aminobutyric acid (GABA) A receptor, rho-2	GABRR2	2570	ENSG00000111886			Gabrr2 (MGI:95626)
chr6	89326625	89352722	6q15	6q15	616175	UBE2J1, UBC6E	Ubiquitin-conjugating enzyme E2 J1	UBE2J1	51465	ENSG00000198833			Ube2j1 (MGI:1926245)
chr6	89364616	89412273	6q15-q16	6q15	608268	RRAGD, RAGD, HOMG7	RAS-related GTP-binding protein D	RRAGD	58528	ENSG00000025039		Hypomagnesemia 7, renal, with or without dilated cardiomyopathy, 620152 (3), Autosomal dominant	Rragd (MGI:1098604)
chr6	89433152	89633834	6q14-q16	6q15	610583	ANKRD6, KIAA0957	Ankyrin repeat domain-containing protein 6	ANKRD6	22881	ENSG00000135299			Ankrd6 (MGI:2154278)
chr6	89642498	89819794	6q15	6q15	618200	MDN1	Midasin AAA Atpase 1	MDN1	23195	ENSG00000112159			Mdn1 (MGI:1926159)
chr6	89829880	89874436	6q15	6q15	606880	CASP8AP2, FLASH	Caspase 8-associated protein 2	CASP8AP2	9994	ENSG00000118412			Casp8ap2 (MGI:1349399)
chr6	89894469	89896120	6q15	6q15	611924	GJA10, CX62	Gap junction protein, alpha-10	GJA10	84694	ENSG00000135355			Gja10 (MGI:1339969)
chr6	89926528	90296843	6q15	6q15	605394	BACH2, IMD60	BTB and CNC homology 2	BACH2	60468	ENSG00000112182		Immunodeficiency 60 and autoimmunity, 618394 (3), Autosomal dominant	Bach2 (MGI:894679)
chr6	90513579	90587072	6q14-q21	6q15	602614	MAP3K7, TAK1, CSCF, FMD2	Mitogen-activated protein kinase kinase kinase 7	MAP3K7	6885	ENSG00000135341		Frontometaphyseal dysplasia 2, 617137 (3), Autosomal dominant; Cardiospondylocarpofacial syndrome, 157800 (3), Autosomal dominant	Map3k7 (MGI:1346877)
chr6	93240020	93419559	6q16.1	6q16.1	602190	EPHA7, HEK11	Ephrin receptor EphA7	EPHA7	2045	ENSG00000135333			Epha7 (MGI:95276)
chr6	95577535	95609452	6q16	6q16.1	612327	MANEA, ENDO	Mannosidase, endo-alpha	MANEA	79694	ENSG00000172469			Manea (MGI:2444484)
chr6	96015974	96215612	6q16	6q16.1	606865	FUT9	Fucosyltransferase 9	FUT9	10690	ENSG00000172461			Fut9 (MGI:1330859)
chr6	96521806	96555276	6q16.1	6q16.1	613372	UFL1, KIAA0776, NLBP	UFM1-specific ligase 1	UFL1	23376	ENSG00000014123			Ufl1 (MGI:1914740)
chr6	96562574	96618626	6q16.1-q16.3	6q16.1	605126	FHL5, ACT	Four-and-a-half LIM domains 5	FHL5	9457	ENSG00000112214			Fhl5 (MGI:1913192)
chr6	96794125	96837477	6q16.1-q16.3	6q16.1	606915	GPR63	G protein-coupled receptor 63	GPR63	81491	ENSG00000112218			Gpr63 (MGI:2135884)
chr6	96889315	96897891	6q16.1	6q16.1	611776	NDUFAF4, HRPAP20, C6orf66, MC1DN15	NADH-ubiquinone oxidoreductase complex assembly factor 4	NDUFAF4	29078	ENSG00000123545		Mitochondrial complex I deficiency, nuclear type 15, 618237 (3), Autosomal recessive	Ndufaf4 (MGI:1915743)
chr6	97142161	97284035	6q16.1	6q16.1	615614	MMS22L, C6orf167	MMS22-like protein	MMS22L	253714	ENSG00000146263			Mms22l (MGI:2684980)
chr6	98830141	98831700	6q16.1	6q16.1	616328	PNKY	Long intergenic noncoding RNA Pinky		105447646				
chr6	98834574	98839458	6q16	6q16.1	600494	POU3F2, OCT7	POU domain, class 3, transcription factor 2	POU3F2	5454	ENSG00000184486			Pou3f2 (MGI:101895)
chr6	98868535	98947946	6q16.1-q16.3	6q16.1-q16.2	605654	FBXL4, FBL4, MTDPS13	F-box and leucine-rich repeat protein 4	FBXL4	26235	ENSG00000112234		Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3), Autosomal recessive	Fbxl4 (MGI:2140367)
chr6	98900001	117900000	6q16.2-q22.1		611944	LMPHM2	Lymphatic malformation 2		100188865		max lod at D6S1671	Lymphatic malformation 2, 611944 (2), Autosomal dominant	
chr6	99369401	99394195	6q16.2	6q16.2	605196	COQ3	Coenzyme Q3, methyltransferase	COQ3	51805	ENSG00000132423			Coq3 (MGI:101813)
chr6	99398050	99425308	6q16.2	6q16.2	616653	PNISR, SRRP130, SFRS18	PNN-interacting serine/arginine-rich protein	PNISR	25957	ENSG00000132424			Pnisr (MGI:1913875)
chr6	99432325	99517846	6q16.2	6q16.2	618439	USP45, LCA19	Ubiquitin-specific protease 45	USP45	85015	ENSG00000123552	mutation identified in 1 LCA19 patient	?Leber congenital amaurosis 19, 618513 (3), Autosomal recessive	Usp45 (MGI:101850)
chr6	99542387	99568814	6q21	6q16.2	123838	CCNC	Cyclin C	CCNC	892	ENSG00000112237			Ccnc (MGI:1858199)
chr6	99592885	99593339	6q16.2	6q16.2	616842	DHS6S1, MCDR1, PBCRA	DNase1 hypersensitivity, chromosome 6, site 1		111365204		upstream of PRDM13 and CCNC	Macular dystrophy 1, 136550 (3), Autosomal dominant; Chorioretinal atrophy, progressive bifocal, 600790 (3), Autosomal dominant	
chr6	99606833	99615562	6q16.2	6q16.2	616741	PRDM13, CDIDHH, PCH17	PR domain-containing protein 13	PRDM13	59336	ENSG00000112238		Pontocerebellar hypoplasia, type 17, 619909 (3), Autosomal recessive; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, 619761 (3), Autosomal recessive	Prdm13 (MGI:2448528)
chr6	99918519	99994223	6q16.2-q21	6q16.2	606111	MCHR2, MCH2R, SLT, MCH2	Melanin-concentrating hormone receptor 2	MCHR2	84539	ENSG00000152034			
chr6	100000001	125800000	6q16.3-q22.31		613828	GEFSP8	Generalized epilepsy with febrile seizures plus, type 8		100653381		between D6S962 and D6S287	Generalized epilepsy with febrile seizures plus, type 8, 613828 (2)	
chr6	100385009	100464921	6q16.3-q21	6q16.3	603128	SIM1	Single-minded, Drosophila, homolog of, 1	SIM1	6492	ENSG00000112246			Sim1 (MGI:98306)
chr6	100508194	100881329	6q16.3	6q16.3	614217	ASCC3, p200, MRT81	Activating signal cointegrator 1 complex, subunit 3	ASCC3	10973	ENSG00000112249		Intellectual developmental disorder, autosomal recessive 81, 620700 (3), Autosomal recessive	Ascc3 (MGI:1925237)
chr6	101393708	102070083	6q21	6q16.3	138244	GRIK2, GLUR6, MRT6, NEDLAS	Glutamate receptor, ionotropic, kainate 2	GRIK2	2898	ENSG00000164418		Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, 619580 (3), Autosomal dominant; Intellectual developmental disorder, autosomal recessive 6, 611092 (3), Autosomal recessive	Grik2 (MGI:95815)
chr6	104728094	104859919	6q21	6q16.3	610876	HACE1, KIAA1320, SPPRS	HECT domain- and ankyrin repeat-containing E3 ubiquitin protein ligase 1	HACE1	57531	ENSG00000085382		Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive	Hace1 (MGI:2446110)
chr6	104937026	105083332	6q21	6q16.3-q21	611044	LIN28B	lin-28 homolog B	LIN28B	389421	ENSG00000187772			Lin28b (MGI:3584032)
chr6	105000001	114200000	6q21		606325	HTX3	Heterotaxy, visceral, 3, autosomal		116629			?Heterotaxy, visceral, 3, autosomal, 606325 (2)	
chr6	105000001	114200000	6q21		601666	IDDM15	Insulin-dependent diabetes mellitus-15		3414			{Diabetes mellitus, insulin-dependent, 15}, 601666 (2)	
chr6	105000001	114200000	6q21		606460	LGV2	Longevity 2		100329168		associated with rs2802292	[Longevity 2], 606460 (2)	
chr6	105000001	114200000	6q21		601349	MCOPS8, MMEP	Microphthalmia, syndromic 8				translocation with 13q12	Microphthalmia, syndromic 8, 601349 (2), ?Autosomal dominant	
chr6	105000001	114200000	6q21		612882	MENAQ2	Menarche, age at, QTL2		100302562		associated with rs7759938	{Menarche, age at, QTL2}, 612882 (2)	
chr6	105000001	130000000	6q21-q22		608852	PLF	Pulmonary function		450095		close to D6S281	{Pulmonary function}, 608852 (2)	
chr6	105096822	105137157	6q21	6q21	604577	BVES, HBVES, POPDC1, LGMDR25	Blood vessel epicardial substance	POPDC1	11149	ENSG00000112276		Muscular dystrophy, limb-girdle, autosomal recessive 25, 616812 (3), Autosomal recessive	Popdc1 (MGI:1346013)
chr6	105157900	105180014	6q21	6q21	605824	POPDC3, POP3, LGMDR26	Popeye domain-containing protein 3	POPDC3	64208	ENSG00000132429		Muscular dystrophy, limb-girdle, autosomal recessive 26, 618848 (3), Autosomal recessive	Popdc3 (MGI:1930153)
chr6	105273218	105403082	6q22	6q21	600400	PREP	Prolyl endopeptidase	PREP	5550	ENSG00000085377			Prep (MGI:1270863)
chr6	105992690	106109938	6q21-q22.1	6q21	603423	PRDM1, BLIMP1	PR domain-containing protein 1 (B-lymphocyte-induced maturation protein 1)	PRDM1	639	ENSG00000057657			Prdm1 (MGI:99655)
chr6	106184476	106325760	6q21	6q21	604261	ATG5, APG5, APG5L, ASP, SCAR25	Autophagy related 5	ATG5	9474	ENSG00000057663	mutation identified in one SCAR25 family	?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3), Autosomal recessive	Atg5 (MGI:1277186)
chr6	106360717	106572017	6q21	6q21	601797	CRYBG1, AIM1, ST4	Crystallin beta-gamma domain-containing 1	CRYBG1	202	ENSG00000112297			Crybg1 (MGI:109544)
chr6	106570771	106630491	6q21	6q21	610502	RTN4IP1, NIMP, OPA10	Reticulon 4-interacting protein 1	RTN4IP1	84816	ENSG00000130347		Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures, 616732 (3), Autosomal recessive	Rtn4ip1 (MGI:2178759)
chr6	106629578	106668417	6q21	6q21	617209	QRSL1, GATA, COXPD40	Glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like protein 1	QRSL1	55278	ENSG00000130348		Combined oxidative phosphorylation deficiency 40, 618835 (3), Autosomal recessive	Qrsl1 (MGI:1923813)
chr6	106969831	106976855	6q21	6q21	600074	CD24	CD24 antigen	CD24	100133941	ENSG00000272398	pseudogenes at 15q21-q22; Yq11		Cd24a (MGI:88323)
chr6	107028199	107051586	6q21	6q21	618583	MTRES1, C6orf203, HSPC230	Mitochondrial transcription rescue factor 1	MTRES1	51250	ENSG00000130349			Mtres1 (MGI:1915101)
chr6	107065182	107115515	6q21	6q21	616374	BEND3, KIAA1553	BEN domain-containing protein 3	BEND3	57673	ENSG00000178409			Bend3 (MGI:2677212)
chr6	107152562	107459564	6q21	6q21	610564	PDSS2, DLP1, C6orf210, COQ10D3	Prenyl diphosphate synthase, subunit 2	PDSS2	57107	ENSG00000164494		Coenzyme Q10 deficiency, primary, 3, 614652 (3), Autosomal recessive	Pdss2 (MGI:1918615)
chr6	107490117	107661306	6q21	6q21	613667	SOBP, JXC1, MRAMS	Sine oculis-binding protein homolog	SOBP	55084	ENSG00000112320	mutation identified in 1 MRAMS family	?Impaired intellectual development, anterior maxillary protrusion, and strabismus, 613671 (3), Autosomal recessive	Sobp (MGI:1924427)
chr6	107867756	107958208	6q21	6q21	608648	SEC63, PCLD2	SEC63 homolog, protein translocation regulator	SEC63	11231	ENSG00000025796		Polycystic liver disease 2, 617004 (3), Autosomal dominant	Sec63 (MGI:2155302)
chr6	108041409	108074741	6q21	6q21	607649	OSTM1, GL, OPTB5	Osteopetrosis associated transmembrane protein 1 (grey-lethal, mouse, homolog of)	OSTM1	28962	ENSG00000081087		Osteopetrosis, autosomal recessive 5, 259720 (3), Autosomal recessive	Ostm1 (MGI:2655574)
chr6	108166022	108188809	6q21	6q21	603849	NR2E1, TLX	Nuclear receptor subfamily 2, group E, member 1 (tailless, Drosophila, homolog of)	NR2E1	7101	ENSG00000112333			Nr2e1 (MGI:1100526)
chr6	108211222	108261040	6q21	6q21	605930	SNX3	Sorting nexin 3	SNX3	8724	ENSG00000112335	t(6;13)(q21;q12)		Snx3 (MGI:1860188)
chr6	108295054	108526001	6q21	6q21	617469	AFG1L, AFG1, LACE1	AFG1-like ATPase	AFG1L	246269	ENSG00000135537			Afg1l (MGI:2148801)
chr6	108559825	108684774	6q21	6q21	602681	FOXO3A, FOXO3, FKHRL1	Forkhead box O3A	FOXO3	2309	ENSG00000118689			Foxo3 (MGI:1890081)
chr6	108848422	109053040	6q21	6q21	618424	ARMC2, SPGF38	Armadillo repeat-containing protein 2	ARMC2	84071	ENSG00000118690		Spermatogenic failure 38, 618433 (3), Autosomal recessive	Armc2 (MGI:1916449)
chr6	108984309	109094846	6q21	6q21	606103	SESN1, SEST1, PA26	Sestrin 1	SESN1	27244	ENSG00000080546			Sesn1 (MGI:2155278)
chr6	109366514	109382467	6q21	6q21	603356	CD164, DFNA66	CD164 antigen	CD164	8763	ENSG00000135535	mutation identified in 1 DFNA66 family	?Deafness, autosomal dominant 66, 616969 (3), Autosomal dominant	Cd164 (MGI:1859568)
chr6	109440724	109443919	6q21	6q21	603498	SMPD2, NSMASE1	Sphingomyelin phosphodiesterase 2	SMPD2	6610	ENSG00000135587			Smpd2 (MGI:1278330)
chr6	109444062	109465968	6q16.1	6q21	607129	MICAL1, NICAL, MICAL	Microtubule-associated monooxygenase, calponin and LIM domains-containing 1	MICAL1	64780	ENSG00000135596			Mical1 (MGI:2385847)
chr6	109462594	109483219	6q21	6q21	614064	ZBTB24, PATZ2, ZNF450, KIAA0441, ICF2	Zinc finger- and BTB domain-containing protein 24	ZBTB24	9841	ENSG00000112365		Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3), Autosomal recessive	Zbtb24 (MGI:3039618)
chr6	109492855	109691202	6q21	6q21	615358	AK9, SPGF89	Adenylate kinase 9	AK9	221264	ENSG00000155085		Spermatogenic failure 89, 620705 (3), Autosomal recessive	Ak9 (MGI:2685080)
chr6	109691296	109825426	6q21	6q21	609390	FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP	FIG4 phosphoinositide 5-phosphatase	FIG4	9896	ENSG00000112367	mutation identified in 1 BTOP family	Yunis-Varon syndrome, 216340 (3), Autosomal recessive; ?Polymicrogyria, bilateral temporooccipital, 612691 (3), Autosomal recessive; Amyotrophic lateral sclerosis 11, 612577 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 4J, 611228 (3), Autosomal recessive	Fig4 (MGI:2143585)
chr6	109978311	109980720	6q21-q22.1	6q21	600553	GPR6	G protein-coupled receptor-6	GPR6	2830	ENSG00000146360			Gpr6 (MGI:2155249)
chr6	110099819	110179670	6q21-q22	6q21	605035	WASF1, WAVE, WAVE1, SCAR1, NEDALVS	WAS protein family member 1	WASF1	8936	ENSG00000112290		Neurodevelopmental disorder with absent language and variable seizures, 618707 (3), Autosomal dominant	Wasf1 (MGI:1890563)
chr6	110180427	110232232	6q22.1	6q21	605585	CDC40, PRP17, PCH15	Cell division cycle 40	CDC40	51362	ENSG00000168438	mutation identified in 1 PCH15 patient	?Pontocerebellar hypoplasia, type 15, 619302 (3), Autosomal recessive	Cdc40 (MGI:1918963)
chr6	110388321	110415575	6q21	6q21	124450	DDO, DASOX	D-aspartate oxidase	DDO	8528	ENSG00000203797			Ddo (MGI:1925528)
chr6	110424687	110476613	6q21	6q21	608276	SLC22A16, FLIPT2, CT2	Solute carrier family 22 (organic cation transporter), member 16	SLC22A16	85413	ENSG00000004809			Slc22a16 (MGI:1918090)
chr6	110609978	110815855	6q21	6q21	614720	CDK19, KIAA1028, DEE87	Cyclin-dependent kinase 19	CDK19	23097	ENSG00000155111		Developmental and epileptic encephalopathy 87, 618916 (3), Autosomal dominant	Cdk19 (MGI:1925584)
chr6	110814617	110895713	6q21-q22	6q21	180980	AMD1	S-adenosylmethionine decarboxylase-1	AMD1	262	ENSG00000123505	pseudogene AMD2 on Xq28		Amd1,Amd2 (MGI:1333111,MGI:88004)
chr6	110958706	110967872	6q21	6q21	611784	GTF3C6, C6orf51	General transcription factor 3C, polypeptide 6	GTF3C6	112495	ENSG00000155115			Gtf3c6 (MGI:1914621)
chr6	110982038	111028263	6q21	6q21	618471	RPF2, BXDC1	Ribosome production factor 2 homolog	RPF2	84154	ENSG00000197498			Rpf2 (MGI:1914489)
chr6	111087503	111231194	6q21-q22	6q21	607550	SLC16A10, TAT1	Solute carrier family 16 (monocarboxylic acid transporter), member 10	SLC16A10	117247	ENSG00000112394			Slc16a10 (MGI:1919722)
chr6	111259339	111280005	6q21	6q21	617331	MFSD4B, NAGLT1, Kiaa1919	Major facilitator superfamily domain-containing protein 4B	MFSD4B	91749	ENSG00000173214			Mfsd4b1,Mfsd4b2,Mfsd4b3-ps,Mfsd4b4,Mfsd4b5 (MGI:1919295,MGI:2143575,MGI:2446139,MGI:3035041,MGI:3773841)
chr6	111299033	111483711	6q21	6q21	602776	REV3L, POLZ, REV3	Rev-3, yeast, homolog-like (polymerase, DNA, zeta)	REV3L	5980	ENSG00000009413			Rev3l (MGI:1337131)
chr6	111555381	111605878	6q21	6q21	607043	TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8	TRAF3-interacting protein 2	TRAF3IP2	10758	ENSG00000056972	mutation identified in 1 family with CANDF8	?Candidiasis, familial, 8, 615527 (3), Autosomal recessive; {Psoriasis susceptibility 13}, 614070 (3)	Traf3ip2 (MGI:2143599)
chr6	111660332	111873452	6q21	6q21	137025	FYN	FYN protooncogene, SRC family tyrosine kinase	FYN	2534	ENSG00000010810	proximal 6q21		Fyn (MGI:95602)
chr6	112052813	112069686	6q21	6q21	603400	CCN6, WISP3, PPAC, PPRD	Cellular communication network factor 6	CCN6	8838	ENSG00000112761		Progressive pseudorheumatoid dysplasia, 208230 (3), Autosomal recessive	Ccn6 (MGI:2685581)
chr6	112070663	112087482	6q21	6q21	607345	TUBE1, TUBE	Tubulin, epsilon-1	TUBE1	51175	ENSG00000074935			Tube1 (MGI:1919174)
chr6	112107931	112254985	6q21	6q21	600133	LAMA4, LAMA3, CMD1JJ	Laminin, alpha-4	LAMA4	3910	ENSG00000112769		Cardiomyopathy, dilated, 1JJ, 615235 (3), Autosomal dominant	Lama4 (MGI:109321)
chr6	113857345	113863475	6q22.2	6q21	177061	MRACKS, MACS, PKCSL	Myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)	MARCKS	4082	ENSG00000277443	monomorphic		Marcks (MGI:96907)
chr6	113933028	113971148	6q21	6q21	605164	HDAC2	Histone deacetylase 2	HDAC2	3066	ENSG00000196591			Hdac2 (MGI:1097691)
chr6	114055596	114343023	6q22.31	6q21-q22.1	609407	HS3ST5, 3OST5	Heparan sulfate-glucosamine 3-sulfotransferase 5	HS3ST5	222537	ENSG00000249853			Hs3st5 (MGI:2441996)
chr6	114200001	148500000	6q22-q24		609255	FEB5	Febrile seizures, familial, 5		619398		between D6S1572 and D6S472	Febrile seizures, familial, 5, 609255 (2), Autosomal dominant	
chr6	114200001	148500000	6q22-q24		606035	FIQTL1	Fasting insulin level quantitative trait locus 1		619503		max lod at D6S1569	[Fasting insulin level quantitative trait locus 1], 606035 (2)	
chr6	114200001	138300000	6q22-q23		161950	IGAN1	IgA nephropathy, susceptibility to, 1		60498			{IgA nephropathy, susceptibility to, 1}, 161950 (2), ?Autosomal dominant	
chr6	114200001	138300000	6q22-q23		604201	SM2	Hepatic fibrosis susceptibility due to Schistosoma mansoni infection		53366		?polymorphism of INFGR1	{Hepatic fibrosis susceptibility due to Schistosoma mansoni infection}, 604201 (2)	
chr6	115931149	116100725	6q21-q22.3	6q22.1	606573	FRK, RAK, GTK	FYN-related kinase	FRK	2444	ENSG00000111816			Frk (MGI:103265)
chr6	116100853	116249497	6q22.1	6q22.1	621076	NT5DC1	5'-nucleotidase domain-containing protein 2	NT5DC1	221294	ENSG00000178425			Nt5dc1 (MGI:2442446)
chr6	116118909	116217144	6q21-q22.3	6q22.1	120110	COL10A1	Collagen X, alpha-1 polypeptide	COL10A1	1300	ENSG00000123500		Metaphyseal chondrodysplasia, Schmid type, 156500 (3), Autosomal dominant	Col10a1 (MGI:88445)
chr6	116249964	116254075	6q22.1	6q22.1	619586	TSPYL4, KIAA0721	TSPY-like 4	TSPYL4	23270	ENSG00000187189			Tspyl4 (MGI:106393)
chr6	116254171	116444861	6q22	6q22.1	605942	DSE, SART2, EDSMC2	Dermatan sulfate epimerase	DSE	29940	ENSG00000111817		Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3), Autosomal recessive	Dse (MGI:2443455)
chr6	116274858	116279930	6q22-q23	6q22.1	604714	TSPYL1, TSPYL, SIDDT	Y-encoded testis-specific protein-like	TSPYL1	7259	ENSG00000189241		Sudden infant death with dysgenesis of the testes syndrome, 608800 (3), Autosomal recessive	Tspyl1 (MGI:1298395)
chr6	116461375	116463771	6q22.1	6q22.1	617305	FAM26F, INAM	Family with sequence similarity 26, member F	CALHM6	441168	ENSG00000188820			Calhm6 (MGI:2443082)
chr6	116494989	116545684	6q22.1	6q22.1	614137	TRAPPC3L, BET3L	Trafficking protein particle complex, subunit 3-like	TRAPPC3L	100128327	ENSG00000173626			Trappc3l (MGI:3642034)
chr6	116571504	116597675	6q22.1	6q22.1	620844	RWDD1	RWD domain-containing protein 1	RWDD1	51389	ENSG00000111832			Rwdd1 (MGI:1913771)
chr6	116616479	116632985	6q22.1	6q22.1	612647	RSPH4A, CILD11	Radial spoke head component 4A	RSPH4A	345895	ENSG00000111834		Ciliary dyskinesia, primary, 11, 612649 (3), Autosomal recessive	Rsph4a (MGI:3027894)
chr6	116635618	116668766	6q22.1	6q22.1	620543	ZUP1, ZUFSP	Zinc finger containing ubiquitin peptidase 1	ZUP1	221302	ENSG00000153975			Zup1 (MGI:1919830)
chr6	116681211	116741867	6q22.1	6q22.1	604545	KPNA5	Karyopherin alpha-5	KPNA5	3841	ENSG00000196911			
chr6	116792085	116829240	6q22.1	6q22.1	613572	GPRC6A	G protein-coupled receptor, family C, group 6, member A	GPRC6A	222545	ENSG00000173612			Gprc6a (MGI:2429498)
chr6	116877242	116932161	6q22.2	6q22.1	612659	RFX6, RFXDC1, MTCHRS	Regulatory factor X, 6	RFX6	222546	ENSG00000185002		Mitchell-Riley syndrome, 615710 (3), Autosomal recessive	Rfx6 (MGI:2445208)
chr6	117265558	117273630	6q21	6q22.1	609979	VGLL2, VGL2, VITO1	Vestigial-like 2	VGLL2	245806	ENSG00000170162			Vgll2 (MGI:2447460)
chr6	117287353	117425942	6q22	6q22.1	165020	ROS1, MCF3	Avian UR2 sarcoma virus oncogene (v-ros) homolog 1	ROS1	6098	ENSG00000047936			Ros1 (MGI:97999)
chr6	117560269	117602511	6q21	6q22.1	606845	GOPC, PIST, FIG, CAL	Golgi-associated PDZ and coiled-coil domains-containing protein	GOPC	57120	ENSG00000047932			Gopc (MGI:2149946)
chr6	117675469	117710727	6q22.31	6q22.1	610463	NUS1, NGBR, C6orf68, CDG1AA, MRD55	NUS1 dehydrodolichyl diphosphate synthase subunit	NUS1	116150	ENSG00000153989	mutation identified in 1 CDG1AA family	Intellectual developmental disorder, autosomal dominant 55, with seizures, 617831 (3), Autosomal dominant; ?Congenital disorder of glycosylation, type 1aa, 617082 (3), Autosomal recessive	Nus1 (MGI:1196365)
chr6	117907264	118317671	6q22.1-q22.31	6q22.2-q22.31	620349	SLC35F1	Solute carrier family 35, member F1	SLC35F1	222553	ENSG00000196376			Slc35f1 (MGI:2139810)
chr6	118100001	130900000	6q22.3-q23.1		142470	HBFQTL2, FCP	Fetal hemoglobin quantitative trait locus 2		7954			Fetal hemoglobin quantitative trait locus 2, 142470 (2), Autosomal dominant	
chr6	118460772	118710089	6q22.31	6q22.31	618865	CEP85L, C6orf204, LIS10	CEP85-like protein	CEP85L	387119	ENSG00000111860		Lissencephaly 10, 618873 (3), Autosomal dominant	Cep85l (MGI:3642684)
chr6	118548296	118561716	6q22.1	6q22.31	172405	PLN, PLB, CMD1P, CMH18	Phospholamban	PLN	5350	ENSG00000198523		Cardiomyopathy, dilated, 1P, 609909 (3); Cardiomyopathy, hypertrophic, 18, 613874 (3), Autosomal dominant	Pln (MGI:97622)
chr6	118813455	118935159	6q22.1-q22.33	6q22.31	610098	MCM9, MCMDC1, ODG4	Minichromosome maintenance complex component 9	MCM9	254394	ENSG00000111877		Ovarian dysgenesis 4, 616185 (3), Autosomal recessive	Mcm9 (MGI:1918817)
chr6	118894152	118909171	6q22.31	6q22.31	609189	ASF1A, CIA	Anti-silencing function 1A histone chaperone	ASF1A	25842	ENSG00000111875			Asf1a (MGI:1913653)
chr6	119177205	119350605	6q22	6q22.31	604344	MAN1A1	Mannosidase, alpha, class 1A, member 1	MAN1A1	4121	ENSG00000111885			Man1a (MGI:104677)
chr6	121079494	121334729	6q22.31	6q22.31	615867	TBC1D32, BROMI	TBC1 domain family, member 32	TBC1D32	221322	ENSG00000146350			Tbc1d32 (MGI:2442827)
chr6	121435646	121449727	5q22.31	6q22.31	121014	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, CMDR, EKVP3	Gap junction protein, alpha-1, 43kD (connexin 43)	GJA1	2697	ENSG00000152661	pseudogene on chr.5	Erythrokeratodermia variabilis et progressiva 3, 617525 (3), Autosomal dominant; Craniometaphyseal dysplasia, autosomal recessive, 218400 (3), Autosomal recessive; Oculodentodigital dysplasia, 164200 (3), Autosomal dominant; Palmoplantar keratoderma with congenital alopecia, 104100 (3), Autosomal dominant; Syndactyly, type III, 186100 (3), Autosomal dominant; Oculodentodigital dysplasia, autosomal recessive, 257850 (3), Autosomal recessive	Gja1,Gja6 (MGI:95713,MGI:95717)
chr6	122399551	122433119	6q22.3	6q22.31	140581	HSF2	Heat-shock transcription factor 2	HSF2	3298	ENSG00000025156			Hsf2 (MGI:96239)
chr6	122443351	122471807	6q22.31	6q22.31	614548	SERINC1, TMS2, KIAA1253	Serine incorporator 1	SERINC1	57515	ENSG00000111897			Serinc1 (MGI:1926228)
chr6	122471921	122726373	6q22.31	6q22.31	606914	PKIB	Protein kinase, cAMP-dependent catalytic, inhibitor beta	PKIB	5570	ENSG00000135549			Pkib (MGI:101937)
chr6	122749201	122784074	6q22-q23	6q22.31	602965	FABP7, FABPB, BLBP	Fatty acid-binding protein 7	FABP7	2173	ENSG00000164434			Fabp7 (MGI:101916)
chr6	122789258	122809720	6q22.31	6q22.31	610728	SMPDL3A, ASML3A	Sphingomyelin phosphodiesterase, acid-like, 3A	SMPDL3A	10924	ENSG00000172594			Smpdl3a (MGI:1931437)
chr6	122996235	123072925	6q22.31	6q22.31	616945	CLVS2	Clavesin 2	CLVS2	134829	ENSG00000146352			Clvs2 (MGI:2443223)
chr6	123216339	123636950	6q22-q23	6q22.31	603283	TRDN, TDN, CARDAR	Triadin	TRDN	10345	ENSG00000186439		Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, 615441 (3), Autosomal recessive	Trdn (MGI:1924007)
chr6	123803865	124825640	6q21	6q22.31	609758	NKAIN2, TCBA	Na+/K+ transporting ATPase interacting 2	NKAIN2	154215	ENSG00000188580	fused with SUSP1 in T-cell lymphoma/leukemia		Nkain2 (MGI:1923447)
chr6	124908243	124963027	6q23	6q22.31	602532	RNF217AS1, STL	RNF217 antisense RNA 1	RNF217-AS1	7955	ENSG00000236548			
chr6	124962437	125092634	6q22.31	6q22.31	618592	RNF217, OSTL, IBRDC1, C6orf172	RING finger potein 217	RNF217	154214	ENSG00000146373	overlaps STL in opposite orientation		Rnf217 (MGI:3610311)
chr6	125153773	125264407	6q22.31	6q22.31	604069	TPD52L1, D53	Tumor protein D52-like 1	TPD52L1	7164	ENSG00000111907			Tpd52l1 (MGI:1298386)
chr6	125749632	125761269	6q21	6q22.31	604674	HEY2, HERP1, GRL	HES-related family bHLH transcription factor with YRPW motif 2	HEY2	23493	ENSG00000135547			Hey2 (MGI:1341884)
chr6	125781115	125932034	6q22.33	6q22.31-q22.32	609752	NCOA7, ERAP140	Nuclear receptor coactivator 7	NCOA7	135112	ENSG00000111912			Ncoa7 (MGI:2444847)
chr6	125956770	125980244	6q22.33	6q22.32	609998	HINT3	Histidine triad nucleotide-binding protein 3	HINT3	135114	ENSG00000111911			Hint3 (MGI:1914097)
chr6	126340115	126483320	6q22.32	6q22.32	611264	CEMPW, C6orf173, CUG2	Centromeric protein W	CENPW	387103	ENSG00000203760			Cenpw (MGI:1913561)
chr6	127118671	127199481	6q22.2	6q22.33	610574	RSPO3, PWTSR, CRISTIN1	R-spondin 3	RSPO3	84870	ENSG00000146374			Rspo3 (MGI:1920030)
chr6	127266682	127288562	6q22.1-q22.33	6q22.33	612137	RNF146	RING finger protein 146	RNF146	81847	ENSG00000118518			Rnf146 (MGI:1915281)
chr6	127288712	127343609	6q22.33	6q22.33	612136	ECHDC1	Enoyl coenzyme A hydratase domain-containing protein 1	ECHDC1	55862	ENSG00000093144			Echdc1 (MGI:1277169)
chr6	127438406	127459389	6q22.33	6q22.33	619236	KIAA0408	KIAA0408 gene	KIAA0408	9729	ENSG00000189367			9330159F19Rik (MGI:3036239)
chr6	127696628	127918595	6q22.33	6q22.33	613607	THEMIS, GASP, SPOT, C6orf190	Thymocyte-expressed molecule involved in selection	THEMIS	387357	ENSG00000172673			Themis (MGI:2443552)
chr6	127968785	128520599	6q22.2-q22.3	6q22.33	602545	PTPRK	Protein-tyrosine phosphatase, receptor type, kappa	PTPRK	5796	ENSG00000152894			Ptprk (MGI:103310)
chr6	128883138	129516566	6q22-q23	6q22.33	156225	LAMA2, LAMM, MDC1A	Laminin, alpha-2 (merosin)	LAMA2	3908	ENSG00000196569		Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3), Autosomal recessive; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3), Autosomal recessive	Lama2 (MGI:99912)
chr6	129576132	129710177	6q22-q24	6q22.33	613351	ARHGAP18	RHO GTPase-activating protein 18	ARHGAP18	93663	ENSG00000146376			Arhgap18 (MGI:1921160)
chr6	130000001	160600000	6q23-q25		607446	BMIQ3	Body mass index quantitative trait locus 3		337895		max lod at D6S305	[Body mass index QTL3], 607446 (2)	
chr6	130000001	138300000	6q23		609319	HCHGQ1	Hematocrit/hemoglobin quantitative trait locus 1		100381204			[Hematocrit/hemoglobin quantitative trait locus 1], 609319 (2)	
chr6	130000001	160600000	6q23-q25		608935	LNCR1	Lung cancer 1		450093		max hlod at D6S2436	{Lung cancer susceptibility}, 608935 (2)	
chr6	130000001	148500000	6q23-q24		611536	MAFD6, BPAD	Major affective disorder 6		100188844			{Major affective disorder 6}, 611536 (2)	
chr6	130000001	148500000	6q23-q24		602154	NTT	Noncoding transcript in T cells		7956				
chr6	130000001	138300000	6q23		614494	RP63	Retinitis pigmentosa 63		100862681		between D6S457 and D6S1656	Retinitis pigmentosa 63, 614494 (2), Autosomal dominant	
chr6	130000001	138300000	6q23		612378	SLEB13	Systemic lupus erythematosus, susceptibility to, 13		100196918		associated with rs5029939	{Systemic lupus erythematosus, susceptibility to, 13}, 612378 (2)	
chr6	130000001	142200000	6q23-q24.1		608220	SPG25	Spastic paraplegia 25, autosomal recessive, with disc herniation		387583			Spastic paraplegia 25, autosomal recessive, 608220 (2), Autosomal recessive	
chr6	130018581	130141438	6q23	6q23.1	618844	L3MGTL3, MBT1, KIAA1798	L3MBTL histone methyl-lysine-binding protein 3	L3MBTL3	84456	ENSG00000198945			L3mbtl3 (MGI:2143628)
chr6	130142752	130365868	6q23.1	6q23.1	620516	SAMD3	Sterile alpha motif domain-containing 3	SAMD3	154075	ENSG00000164483			Samd3 (MGI:2685469)
chr6	130839347	131063245	6q22-q23	6q23.1-q23.2	603237	EPB41L2	Erythrocyte membrane protein band 4.1-like 2	EPB41L2	2037	ENSG00000079819			Epb41l2 (MGI:103009)
chr6	131125627	131283532	6q23.2	6q23.2	604693	AKAP7, AKAP18	A-kinase anchor protein 7	AKAP7	9465	ENSG00000118507			Akap7 (MGI:1859150)
chr6	131573226	131584329	6q23	6q23.2	608313	ARG1	Arginase, liver	ARG1	383	ENSG00000118520		Argininemia, 207800 (3), Autosomal recessive	Arg1 (MGI:88070)
chr6	131573966	131628313	6q23.2	6q23.2	605042	MED23, MRT18	Mediator complex subunit 23	MED23	9439	ENSG00000112282		Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy, 614249 (3), Autosomal recessive	Med23 (MGI:1917458)
chr6	131637302	131747410	6q22	6q23.2	602182	ENPP3, PDNP3	Ectonucleotide pyrophosphatase/phosphodiesterase 3	ENPP3	5169	ENSG00000154269			Enpp3 (MGI:2143702)
chr6	131808020	131895155	6q22-q23	6q23.2	173335	ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED	Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of)	ENPP1	5167	ENSG00000197594		{Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3), Autosomal recessive; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant; Arterial calcification, generalized, of infancy, 1, 208000 (3), Autosomal recessive; Cole disease, 615522 (3), Autosomal dominant	Enpp1 (MGI:97370)
chr6	131948176	131951372	6q23.1	6q23.2	121009	CCN2, CTGF, NOV2, SEMDLSL, KMD	Cellular communication network factor 2	CCN2	1490	ENSG00000118523	mutation identified in 1 SEMDLSL family	?Spondyloepimetaphyseal dysplasia, Li-Shao-Li type, 621099 (3), Autosomal dominant; Kyphomelic dysplasia, 211350 (3), Autosomal recessive	Ccn2 (MGI:95537)
chr6	132296055	132401475	6q23.1-q23.3	6q23.2	609000	MOXD1, MOX	Monooxygenase, DBH-like, 1	MOXD1	26002	ENSG00000079931			Moxd1 (MGI:1921582)
chr6	132445867	132513472	6q23.2	6q23.2	603217	STX7	Syntaxin 7	STX7	8417	ENSG00000079950			Stx7 (MGI:1858210)
chr6	132538277	132539336	6q23.2	6q23.2	608282	TAR3, TA3	Trace amine receptor 3	TAAR9	134860	ENSG00000237110			Taar9 (MGI:3527454)
chr6	132552672	132553756	6q23.2	6q23.2	606927	GPR102, TA5	G protein-coupled receptor 102	TAAR8	83551	ENSG00000146385			Taar8a,Taar8b,Taar8c (MGI:2685076,MGI:2685995,MGI:3527452)
chr6	132570322	132571359	6q23.2	6q23.2	608923	TAAR6, TRAR4	Trace amine-associated receptor 6	TAAR6	319100	ENSG00000146383			Taar6 (MGI:2685074)
chr6	132588592	132616747	6q23.2	6q23.2	607405	PNR	Putative neurotransmitter receptor	TAAR5	9038	ENSG00000135569			Taar5 (MGI:2685073)
chr6	132617150	132624275	6q24	6q23.2	604849	TAAR2, GPR58	Trace amine-associated receptor 2	TAAR2	9287	ENSG00000146378			Taar2 (MGI:2685071)
chr6	132643312	132659182	6q23.1	6q23.2	609333	TAAR1, TA1	Trace amine-associated receptor 1	TAAR1	134864	ENSG00000146399			Taar1 (MGI:2148258)
chr6	132680849	132714055	6q23-q24	6q23.2	603570	VNN1	Vanin 1	VNN1	8876	ENSG00000112299			Vnn1 (MGI:108395)
chr6	132722787	132734765	6q23-q24	6q23.2	606592	VNN3	Vanin 3	VNN3P	55350	ENSG00000293493			Vnn3 (MGI:1347055)
chr6	132743870	132763455	6q23-q24	6q23.2	603571	VNN2	Vanin 2	VNN2	8875	ENSG00000112303			
chr6	132769370	132798637	6q22.3	6q23.2	613361	C6orf192	Chromosome 6 open reading frame 192	SLC18B1	116843	ENSG00000146409			Slc18b1 (MGI:1923556)
chr6	132814569	132817564	6q	6q23.2	603660	RPS12	Ribosomal protein S12	RPS12	6206	ENSG00000112306			Rps12 (MGI:98105)
chr6	133240593	133532128	6q23	6q23.2	603550	EYA4, DFNA10, CMD1J	EYA transcriptional coactivator and phosphatase 4	EYA4	2070	ENSG00000112319	mutation identified in 1 CMD1J family	?Cardiomyopathy, dilated, 1J, 605362 (3), Autosomal dominant; Deafness, autosomal dominant 10, 601316 (3), Autosomal dominant	Eya4 (MGI:1337104)
chr6	133502252	133889006	6q23.2	6q23.2	616058	TARID	TCF21 antisense RNA inducing promoter demethylation	TARID	100507308	ENSG00000227954			
chr6	133889113	133895537	6q23-q24	6q23.2	603306	TCF21, POD1	Transcription factor-21 (epicardin; podocyte-expressed 1)	TCF21	6943	ENSG00000118526			Tcf21 (MGI:1202715)
chr6	133952174	133990432	6q23.2	6q23.2	605521	TBPL1, TRF2, TLF	TATA box-binding protein-like protein 1	TBPL1	9519	ENSG00000028839			Tbpl1 (MGI:1339946)
chr6	133987581	134052624	6q23.2	6q23.2	610372	SLC2A12, GLUT12	Solute carrier family 2 (facilitated glucose transporter), member 12	SLC2A12	154091	ENSG00000146411			Slc2a12 (MGI:3052471)
chr6	134169256	134318112	6q23	6q23.2	602958	SGK1	Serum/glucocorticoid-regulated kinase 1	SGK1	6446	ENSG00000118515			Sgk1 (MGI:1340062)
chr6	134700001	138300000	6q23.3		614645	MPVQTL5	Mean platelet volume quantitative trait locus 5		100887752		associated with rs9399137	Mean platelet volume QTL5, 614645 (2)	
chr6	134917393	134950101	6q23.2	6q23.3	606467	ALDH8A1, ALDH12	Aldehyde dehydrogenase 8 family, member A1	ALDH8A1	64577	ENSG00000118514			Aldh8a1 (MGI:2653900)
chr6	134960378	135054822	6q24	6q23.3	612450	HBS1L, KIAA1038, ERFS	HBS1-like protein	HBS1L	10767	ENSG00000112339			Hbs1l (MGI:1891704)
chr6	135181308	135219172	6q22	6q23.3	189990	MYB	Avian myeloblastosis viral (v-myb) oncogene homolog	MYB	4602	ENSG00000118513		{T-cell acute lymphoblastic leukemia} (3)	Myb (MGI:97249)
chr6	135283532	135497740	6q23.3	6q23.3	608894	AHI1	Abelson helper integration site 1	AHI1	54806	ENSG00000135541		Joubert syndrome 3, 608629 (3), Autosomal recessive	Ahi1 (MGI:87971)
chr6	135851701	136195574	6q23.3	6q23.3	604645	PDE7B	Phosphodiesterase 7B, cAMP-specific, high-affinity	PDE7B	27115	ENSG00000171408			Pde7b (MGI:1352752)
chr6	136256627	136289846	6q22-q23	6q23.3	612588	BCLAF1, BTF, KIAA0164	BCL2-associated transcription factor 1	BCLAF1	9774	ENSG00000029363			Bclaf1 (MGI:1917580)
chr6	136342734	136550422	6q22-q25	6q23.3	604108	MAP7, EMAP115	Microtubule-associated protein-7	MAP7	9053	ENSG00000135525			Map7 (MGI:1328328)
chr6	136557046	136793091	6q22.33	6q23.3	602448	MAP3K5, MEKK5, MAPKKK5, ASK1	Mitogen-activated protein kinase kinase kinase 5	MAP3K5	4217	ENSG00000197442			Map3k5 (MGI:1346876)
chr6	136822592	136913934	6q23.3	6q23.3	601757	PEX7, RCDP1, PBD9B	Peroxisomal biogenesis factor-7	PEX7	5191	ENSG00000112357		Rhizomelic chondrodysplasia punctata, type 1, 215100 (3), Autosomal recessive; Peroxisome biogenesis disorder 9B, 614879 (3), Autosomal recessive	Pex7 (MGI:1321392)
chr6	136922301	136925660	6q23.3	6q23.3	612519	SLC35D3	Solute carrier family 35, member D3	SLC35D3	340146	ENSG00000182747			Slc35d3 (MGI:1923407)
chr6	136999971	137044965	6q23	6q23.3	605620	IL20RA	Interleukin 20 receptor, alpha	IL20RA	53832	ENSG00000016402			Il20ra (MGI:3605069)
chr6	137143820	137173644	6q24.1-q24.2	6q23.3	606648	IL22BP, IL22RA2	Interleukin 22-binding protein	IL22RA2	116379	ENSG00000164485			Il22ra2 (MGI:2665114)
chr6	137197484	137219385	6q23.3	6q23.3	107470	IFNGR1, IMD27A, IMD27B	Immune interferon, receptor for	IFNGR1	3459	ENSG00000027697		{H. pylori infection, susceptibility to}, 600263 (3); Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3), Autosomal recessive; Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3), Autosomal dominant; {Tuberculosis infection, protection against}, 607948 (3); {Tuberculosis, susceptibility to}, 607948 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3)	Ifngr1 (MGI:107655)
chr6	137492199	137494394	6q23.3	6q23.3	609323	OLIG3, BHLHB7	Oligodendrocyte lineage transcription factor 3	OLIG3	167826	ENSG00000177468			Olig3 (MGI:2149955)
chr6	137823669	137868233	6q23.3	6q23.3	618508	WAKMAR2	Wound- and keratinocyte migration-associated long noncoding RNA 2	WAKMAR2	100130476		partially overlaps TNFAIP on opposite strand		
chr6	137866349	137883312	6q23	6q23.3	191163	TNFAIP3, A20, OTUD7C, AIFBL1	Tumor necrosis factor-alpha-induced protein 3	TNFAIP3	7128	ENSG00000118503		Autoinflammatory syndrome, familial, Behcet-like 1, 616744 (3), Autosomal dominant	Tnfaip3 (MGI:1196377)
chr6	138088505	138107419	6q23.3	6q23.3	609301	PERP, OLMS2, EKVP7	p53 effector related to PMP22	PERP	64065	ENSG00000112378		Erythrokeratodermia variabilis et progressiva 7, 619209 (3), Autosomal recessive; Olmsted syndrome 2, 619208 (3), Autosomal dominant	Perp (MGI:1929938)
chr6	138161939	138344663	6q23.3-q24.1	6q23.3-q24.1	617411	ARFGEF3, BIG3, KIAA1244	ADP-ribosylation factor guanine nucleotide exchange factor 3	ARFGEF3	57221	ENSG00000112379			Arfgef3 (MGI:106387)
chr6	138215986	138218491	6q23-q24	6q23.3	605669	PBOV1, UROC28, UC28	Prostate and breast cancer overexpressed 1	PBOV1	59351	ENSG00000254440			
chr6	138300001	160600000	6q24-q25		612863	DEL6q24q25, C6DELq25q25	Chromosome 6q24-q25 deletion syndrome					Chromosome 6q25-q25 deletion syndrome, 612863 (4), Autosomal dominant	
chr6	138300001	160600000	6q24-q25		606255	STQTL1	Stature quantitative trait locus 1				associated with rs4896582 and rs3748069	{Stature QTL 1}, 606255 (2)	
chr6	138300001	148500000	6q24		601410	TNDM1	Transient neonatal diabetes mellitus 1				disordered imprinting of PLAGL1 and HYMAI	{Diabetes mellitus, transient neonatal 1}, 601410 (4), Autosomal recessive, Autosomal dominant	
chr6	138403531	138422197	6q24	6q24.1	605825	C6orf34, SOUL	Soul, chicken, homolog of	HEBP2	23593	ENSG00000051620			Hebp2 (MGI:1860084)
chr6	138422043	138693212	6q24.1	6q24.1	620171	NHSL1	NHS-like protien 1	NHSL1	57224	ENSG00000135540			Nhsl1 (MGI:106390)
chr6	138773769	138793319	6q24.1	6q24.1	615353	CCDC28A, C6orf80	Coiled-coil domain-containing 28A	CCDC28A	25901	ENSG00000024862			Ccdc28a (MGI:2443508)
chr6	138903493	138988253	6q23.1-q24.1	6q24.1	614825	REPS1, NBIA7	RALBP1-associated EPS domain-containing protein 1	REPS1	85021	ENSG00000135597	mutation identified in 1 NBIA7 family	?Neurodegeneration with brain iron accumulation 7, 617916 (3), Autosomal recessive	Reps1 (MGI:1196373)
chr6	139135080	139180802	6q24.1	6q24.1	607977	HECA, HDC	HDC homolog, cell cycle regulator	HECA	51696	ENSG00000112406			Heca (MGI:2685715)
chr6	139159162	139323950	6q24.1	6q24.1	611438	TXLNB	Taxilin, beta	TXLNB	167838	ENSG00000164440			Txlnb (MGI:2671945)
chr6	139371807	139374648	6q23.3	6q24.1	602937	CITED2, MRG1, P35SRJ, VSD2, ASD8	CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2	CITED2	10370	ENSG00000164442	?pseudogene on 1q22	Atrial septal defect 8, 614433 (3), Autosomal dominant; Ventricular septal defect 2, 614431 (3), Autosomal dominant	Cited2 (MGI:1306784)
chr6	142074484	142147122	6q21-qter	6q24.1	162341	NMBR	Neuromedin B receptor	NMBR	4829	ENSG00000135577			Nmbr (MGI:1100525)
chr6	142147263	142224685	6q24.1	6q24.1-q24.2	610902	VTA1, 6orf55, SBP1, LIP5, DRG1	Vessicle trafficking 1	VTA1	51534	ENSG00000009844			Vta1 (MGI:1913451)
chr6	142302007	142446261	6q24.1	6q24.2	612243	ADGRG6, PR126, VIGR, LCCS9	Adhesion G protein-coupled receptor G6	ADGRG6	57211	ENSG00000112414		Lethal congenital contracture syndrome 9, 616503 (3), Autosomal recessive	Adgrg6 (MGI:1916151)
chr6	142751469	142946365	6q23-q24	6q24.2	143054	HIVEP2, MRD43	Human immunodeficiency virus type I enhancer-binding protein-2	HIVEP2	3097	ENSG00000010818		Intellectual developmental disorder, autosomal dominant 43, 616977 (3), Autosomal dominant	Hivep2 (MGI:1338076)
chr6	143059213	143343883	6q24.2	6q24.2	608514	AIG1	Androgen-induced gene 1	AIG1	51390	ENSG00000146416			Aig1 (MGI:1913503)
chr6	143422832	143450695	6q24.2	6q24.2	615388	ADAT2, TAD2	Adenosine deaminase, tRNA-specific, 2	ADAT2	134637	ENSG00000189007			Adat2 (MGI:1914007)
chr6	143450805	143490616	6q24.2	6q24.2	603164	PEX3, PBD10A, PBD10B	Peroxisomal biogenesis factor-3	PEX3	8504	ENSG00000034693	mutation identified in 1 PBD10B patient	Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3), Autosomal recessive; ?Peroxisome biogenesis disorder 10B, 617370 (3), Autosomal recessive	Pex3 (MGI:1929646)
chr6	143494812	143511720	6q24.2	6q24.2	136820	FUCA2	Fucosidase, alpha-L- 2, plasma	FUCA2	2519	ENSG00000001036	linked to PLG		Fuca2 (MGI:1914098)
chr6	143536878	143831185	6q24.2	6q24.2	608724	PHACTR2, KIAA0680	Phosphatase and actin regulator 2	PHACTR2	9749	ENSG00000112419			Phactr2 (MGI:2446138)
chr6	143843338	143863812	6q24.2	6q24.2	620074	LTV1, IPHAK	LTV1 ribosome biogenesis factor	LTV1	84946	ENSG00000135521		Inflammatory poikiloderma with hair abnormalities and acral keratoses, 620199 (3), Autosomal recessive	Ltv1 (MGI:2447810)
chr6	143940300	144064599	6q24	6q24.2	603044	PLAGL1, ZAC, LOT1	Pleomorphic adenoma gene-like 1 (ZAC tumor suppressor)	PLAGL1	5325	ENSG00000118495	relaxed imprinting in TNDM		Plagl1 (MGI:1100874)
chr6	144004916	144008259	6q24	6q24.2	606546	HYMAI	Hydatidiform mole-associated and imprinted transcript	HYMAI	57061	ENSG00000283122	relaxed imprinting in TNDM		Hymai (MGI:2651552)
chr6	144094884	144095573	6q24.2	6q24.2	617847	SF3B5, SF3B10	Splicing factor 3B, subunit 5	SF3B5	83443	ENSG00000169976			Sf3b5 (MGI:1913375)
chr6	144139963	144191939	6q24	6q24.2	605014	STX11, FHL4, HPLH4, HLH4	Syntaxin-11	STX11	8676	ENSG00000135604		Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3), Autosomal recessive	Stx11 (MGI:1921982)
chr6	144285335	144853034	6q24	6q24.2	128240	UTRN, DMDL, DRP1	Utrophin (homologous to dystrophin)	UTRN	7402	ENSG00000152818	near dy in mouse		Utrn (MGI:104631)
chr6	145383353	145736023	6q24	6q24.3	607566	EPM2A, MELF2	EPM2A glucan phosphatase, laforin	EPM2A	7957	ENSG00000112425		Myoclonic epilepsy of Lafora 1, 254780 (3), Autosomal recessive	Epm2a (MGI:1341085)
chr6	145793502	145814795	6q24	6q24.3	609101	FBXO30, FBX30	F-box only protein 30	FBXO30	84085	ENSG00000118496			Fbxo30 (MGI:1919115)
chr6	145857838	145964358	6p24.3	6q24.3	608048	SHPRH, RAD5	SNF2 histone linker PHD RING helicase	SHPRH	257218	ENSG00000146414			Shprh (MGI:1917581)
chr6	146027707	146437601	6q24	6q24.3	604473	GRM1, MGLUR1, GRM1A, SCAR13, SCA44	Glutamate receptor, metabotropic, 1	GRM1	2911	ENSG00000152822		Spinocerebellar ataxia, autosomal recessive 13, 614831 (3), Autosomal recessive; Spinocerebellar ataxia 44, 617691 (3), Autosomal dominant	Grm1 (MGI:1351338)
chr6	146543833	146554953	6q24.3	6q24.3	612906	RAB32, PARK26	Ras-associated protein RAB32	RAB32	10981	ENSG00000118508		{Parkinson disease 26, autosomal dominant, susceptibility to}, 620923 (3), Autosomal dominant	Rab32 (MGI:1915094)
chr6	146598972	146815462	6q24.3	6q24.3	614630	ADGB	Androglobin	ADGB	79747	ENSG00000118492			Adgb (MGI:3605549)
chr6	147204417	147390473	6q24.3	6q24.3	604586	STXBP5	Syntaxin-binding protein 5 (tomosyn)	STXBP5	134957	ENSG00000164506			Stxbp5 (MGI:1926058)
chr6	147508690	147954680	6q24.2	6q24.3	620517	SAMD5	Sterile alpha motif domain-containing 5	SAMD5	389432	ENSG00000203727			Samd5 (MGI:2444815)
chr6	148193468	148552044	6q24.3	6q24.3-q25.1	607955	SASH1, KIAA0790, CAPOK, DUH1	Sterile alpha motifs- and SH3 domain-containing protein 1	SASH1	23328	ENSG00000111961	mutation identified in 1 CAPOK family	Dyschromatosis universalis hereditaria 1, 127500 (3), Autosomal dominant; ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3), Autosomal recessive	Sash1 (MGI:1917347)
chr6	148500001	160600000	6q25		612114	BMND11	Bone mineral density quantitative trait locus 11		100188884		associated with rs4870044, rs1038304, and rs1999805	[Bone mineral density QTL 11], 612114 (2)	
chr6	148500001	160600000	6q25		612521	IDDM21	Diabetes mellitus, insulin-dependent, 21				associated with rs1738074	{Diabetes mellitus, insulin-dependent, 21}, 612521 (2)	
chr6	148500001	170805979	6q25-q27		600883	IDDM8	Insulin-dependent diabetes mellitus-8		3407			{Diabetes mellitus, insulin-dependent, 8}, 600883 (2)	
chr6	148500001	160600000	6q25		607572	LPRS2	Leprosy, susceptibility to, 2				association with PARK2	{Leprosy, susceptibility to, 2}, 607572 (2)	
chr6	148500001	164100000	6q25-q26		180020	RCD1	Retinal cone dystrophy-1		5953			?Retinal cone dystrophy-1, 180020 (2), Autosomal dominant	
chr6	148747030	149076990	6q25.1	6q25.1	610752	UST	Uronyl 2-sulfotransferase	UST	10090	ENSG00000111962			Ust (MGI:2442406)
chr6	149217926	149411607	6q25	6q25.1	605101	TAB2, MAP3K7IP2, KIAA0733, CHTD2	Tak1 (MAP3K7) binding protein 2	TAB2	23118	ENSG00000055208		Congenital heart defects, nonsyndromic, 2, 614980 (3), Autosomal dominant	Tab2 (MGI:1915902)
chr6	149400262	149401278	6q25	6q25.1	608829	SUMO4, IDDM5	Small ubiquitin-like modifier 4	SUMO4	387082	ENSG00000177688		{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)	
chr6	149446795	149485014	6q25.1	6q25.1	611106	ZC3H12D, p34, C6orf95	Zinc finger CCCH domain-containing protein 12D	ZC3H12D	340152	ENSG00000178199			Zc3h12d (MGI:3045313)
chr6	149504495	149546043	6q24-q25	6q25.1	607609	PPIL4	Peptidyl-prolyl isomerase-like 4	PPIL4	85313	ENSG00000131013			Ppil4 (MGI:1914668)
chr6	149594873	149648990	6q25.1	6q25.1	606696	KATNA1	Katanin, p60 subunit, A1	KATNA1	11104	ENSG00000186625			Katna1 (MGI:1344353)
chr6	149658153	149718101	6q25.1	6q25.1	603473	LATS1	Large tumor suppressor kinase 1	LATS1	9113	ENSG00000131023			Lats1 (MGI:1333883)
chr6	149724315	149749358	6q24.3	6q25.1	608141	NUP43	Nucleoporin, 43kD	NUP43	348995	ENSG00000120253			Nup43 (MGI:1917162)
chr6	149749695	149811421	6q25.1	6q25.1	176851	PCMT1, PIMT	Protein-L-isoaspartate (D-aspartate) O-methyltransferase	PCMT1	5110	ENSG00000120265			Pcmt1 (MGI:97502)
chr6	149883179	149898113	6q25.1	6q25.1	609243	RAET1E, LETAL, ULBP4	Retinoic acid early transcript 1E	RAET1E	135250	ENSG00000164520			Ulbp1 (MGI:1925027)
chr6	149916878	149923121	6q25.1	6q25.1	609244	RAET1G	Retinoic acid early transcript 1G	RAET1G	353091	ENSG00000203722			Raet1a,Raet1b,Raet1c,Raet1d,Raet1e (MGI:109431,MGI:109432,MGI:109477,MGI:1861032,MGI:2675273)
chr6	149942014	149949235	6q25	6q25.1	605698	ULBP2	UL16-binding protein 2	ULBP2	80328	ENSG00000131015			Raet1d,Ulbp1 (MGI:1861032,MGI:1925027)
chr6	149963943	149973715	6q25	6q25.1	605697	ULBP1	UL16-binding protein 1	ULBP1	80329	ENSG00000111981			Ulbp1 (MGI:1925027)
chr6	150018334	150025532	6q24.2-q25.3	6q25.1	611047	RAET1L	Retinoic acid early transcript 1L	RAET1L	154064	ENSG00000155918			Raet1a,Raet1b,Raet1c,Raet1d,Raet1e (MGI:109431,MGI:109432,MGI:109477,MGI:1861032,MGI:2675273)
chr6	150061053	150069121	6q25	6q25.1	605699	ULBP3	UL16-binding protein 3	ULBP3	79465	ENSG00000131019			Ulbp1,Ulbp3 (MGI:1925027,MGI:3588256)
chr6	150143044	150250392	6q24.3-q25.3	6q25.1	613242	PPP1R14C, KEPI	Protein phosphatase 1, regulatory subunit 14C	PPP1R14C	81706	ENSG00000198729			Ppp1r14c (MGI:1923392)
chr6	150369012	150405969	6q24-q25	6q25.1	612025	IYD, DEHAL1, TDH4	Iodotyrosine deiodinase	IYD	389434	ENSG00000009765		Thyroid dyshormonogenesis 4, 274800 (3), Autosomal recessive	Iyd (MGI:1917587)
chr6	150599885	150843665	6q25.1	6q25.1	620134	PLEKHG1, KIAA1209	Pleckstrin homology domain-and RhoGEF domain-containing protein G1	PLEKHG1	57480	ENSG00000120278			Plekhg1 (MGI:2676551)
chr6	150865702	151101887	6q25.2	6q25.1	611427	MTHFD1L, MTC1THFS	Methylenetetrahydrofolate dehydrogenase 1-like, NADP(+)-dependent	MTHFD1L	25902	ENSG00000120254			Mthfd1l (MGI:1924836)
chr6	151239967	151358559	6q25.1	6q25.1	604698	AKAP12, AKAP250, GRAVIN	A-kinase anchor protein 12	AKAP12	9590	ENSG00000131016			Akap12 (MGI:1932576)
chr6	151364115	151391559	6q25.1	6q25.1	616595	ZBTB2, ZNF437, KIAA1483	Zinc finger- and BTB domain-containing protein 2	ZBTB2	57621	ENSG00000181472			Zbtb2 (MGI:2685949)
chr6	151404762	151452126	6q25	6q25.1	614917	RMND1, COXPD11	Required for meiotic nuclear division 1 homolog	RMND1	55005	ENSG00000155906		Combined oxidative phosphorylation deficiency 11, 614922 (3), Autosomal recessive	Rmnd1 (MGI:1913334)
chr6	151452466	151470101	6q25.1	6q25.1	616332	ARMT1, C6orf211	Acidic residue methyltransferase 1	ARMT1	79624	ENSG00000146476			Armt1 (MGI:1920669)
chr6	151656672	152129619	6q25.1	6q25.1-q25.2	133430	ESR1, ESR, ESTRR	Estrogen receptor 1	ESR1	2099	ENSG00000091831		Breast cancer, somatic, 114480 (3); {Migraine, susceptibility to}, 157300 (3), Autosomal dominant; Estrogen resistance, 615363 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3)	Esr1 (MGI:1352467)
chr6	152121687	152637362	6q25	6q25.2	608441	SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4, AMC3	Spectrin repeat-containing nuclear envelope protein 1 (nesprin 1)	SYNE1	23345	ENSG00000131018		Arthrogryposis multiplex congenita 3, myogenic type, 618484 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8, 610743 (3), Autosomal recessive	Syne1 (MGI:1927152)
chr6	152697897	152747181	6q25	6q25.2	616805	MYCT1, MTLC	MYC target in myeloid cells 1	MYCT1	80177	ENSG00000120279			Myct1 (MGI:1915882)
chr6	152750797	152759760	6q26-q27	6q25.2	192320	VIP	Vasoactive intestinal peptide	VIP	7432	ENSG00000146469			Vip (MGI:98933)
chr6	152970535	152983579	6q25-q26	6q25.2	606013	FBXO5, FBX5, EMI1	F-box only protein 5	FBXO5	26271	ENSG00000112029			Fbxo5 (MGI:1914391)
chr6	152987362	153002709	6q25.2	6q25.2	613542	MTRF1L	Mitochondrial translational release factor 1-like	MTRF1L	54516	ENSG00000112031			Mtrf1l (MGI:1918830)
chr6	153004459	153131282	6q25.2	6q25.2	607191	RGS17, RGSZ2	Regulator of G protein signaling 17	RGS17	26575	ENSG00000091844			Rgs17 (MGI:1927469)
chr6	154010496	154246867	6q24-q25	6q25.2	600018	OPRM1	Opioid receptor, mu-1	OPRM1	4988	ENSG00000112038			Oprm1 (MGI:97441)
chr6	154154496	154356803	6p25.2	6q25.2	619948	IPCEF1, PIP3E, KIAA0403	Interaction protein for cytohesin exchange factors 1	IPCEF1	26034	ENSG00000074706			Ipcef1 (MGI:2444159)
chr6	154387515	154510685	6q25.2	6q25.2	617476	CNKSR3, CNK3	CNKSR family, member 3	CNKSR3	154043	ENSG00000153721			Cnksr3 (MGI:2674130)
chr6	154733378	154834244	6q25.2	6q25.2	616024	SCAF8, KIAA1116	SR-related C-terminal domain-associated factor 8	SCAF8	22828	ENSG00000213079			Scaf8 (MGI:1925212)
chr6	154995315	155257723	6q25.2-q25.3	6q25.2-q25.3	604709	TIAM2	T-cell lymphoma invasion and metastasis 2	TIAM2	26230	ENSG00000146426			Tiam2 (MGI:1344338)
chr6	155200001	160600000	6q25.3		612010	CELIAC12	Celiac disease, susceptibility to, 12		100188874		in LD block containing TAGAP	{Celiac disease, susceptibility to, 12}, 612010 (2)	
chr6	155229871	155314484	6q25	6q25.3	607033	TFB1M, CGI75	Transcription factor B1, mitochondrial	TFB1M	51106	ENSG00000029639			Tfb1m (MGI:2146851)
chr6	155395368	155455839	6q25.1	6q25.3	607105	NOX3	NADPH oxidase 3	NOX3	50508	ENSG00000074771			Nox3 (MGI:2681162)
chr6	156776026	157210779	6q25.1	6q25.3	614556	ARID1B, BAF250B, KIAA1235, MRD12, CSS1	AT-rich interaction domain-containing protein 1B	ARID1B	57492	ENSG00000049618		Coffin-Siris syndrome 1, 135900 (3), Autosomal dominant	Arid1b (MGI:1926129)
chr6	157289025	157323519	6q25.3	6q25.3	620721	TMEM242	Transmembrane protein 242	TMEM242	729515	ENSG00000215712			Tmem242 (MGI:1917794)
chr6	157381190	157678157	6q25.3	6q25.3	619295	ZDHHC14	Zinc finger DHHC-type palmitoyltransferase 14	ZDHHC14	79683	ENSG00000175048			Zdhhc14 (MGI:2653229)
chr6	157823246	157945077	6q26.3	6q25.3	605952	SNX9, SH3PX1	Sorting nexin 9	SNX9	51429	ENSG00000130340			Snx9 (MGI:1913866)
chr6	157981296	158099176	6q25.3	6q25.3	609410	SYNJ2, KIAA0348	Synaptojanin 2	SYNJ2	8871	ENSG00000078269			Synj2 (MGI:1201671)
chr6	158109519	158168262	6q25.3	6q25.3	614725	SERAC1, MEGDEL	Serine active site-containing protein 1	SERAC1	84947	ENSG00000122335		3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3), Autosomal recessive	Serac1 (MGI:2447813)
chr6	158168350	158199344	6q25.3	6q25.3	608780	GTF2H5, TTD3, TFB5, C6orf175, TTDA	General transcription factor IIH, polypeptide 5	GTF2H5	404672	ENSG00000272047		Trichothiodystrophy 3, photosensitive, 616395 (3), Autosomal recessive	Gtf2h5 (MGI:107227)
chr6	158232195	158511828	6q25.3	6q25.3	619442	TULP4, TUSP	TUB-like protein 4	TULP4	56995	ENSG00000130338			Tulp4 (MGI:1916092)
chr6	158536640	158635429	6q25.3	6q25.3	613209	TMEM181, GPR178, KIAA1423	Transmembrane protein 181	TMEM181	57583	ENSG00000146433			Tmem181a (MGI:1924356)
chr6	158636474	158644743	6q25.2-q25.3	6q25.3	601554	DYNLT1, TCTEL1	Dynein light chain Tctex-type 1	DYNLT1	6993	ENSG00000146425			Dynlt1a,Dynlt1b,Dynlt1c,Dynlt1f (MGI:3780996,MGI:3807476,MGI:3807506,MGI:98643)
chr6	158644936	158764871	6q25.3	6q25.3	620973	SYTL3, SLP3	Synaptotagmin-like 3	SYTL3	94120	ENSG00000164674			Sytl3 (MGI:1933367)
chr6	158765748	158819368	6q25.3	6q25.3	123900	EZR, VIL2, CVL	Ezrin	EZR	7430	ENSG00000092820	coamplified with MYB		Ezr (MGI:98931)
chr6	158962980	159000202	6q25.3	6q25.3	615876	RSPH3, RSHL2, RSP3, CILD32	Radial spoke head 3	RSPH3	83861	ENSG00000130363		Ciliary dyskinesia, primary, 32, 616481 (3), Autosomal recessive	Rsph3a,Rsph3b (MGI:1914082,MGI:3630308)
chr6	159034481	159044991	6q25.3	6q25.3	609667	TAGAP	T-cell activation GTPase-activating protein	TAGAP	117289	ENSG00000164691			Tagap,Tagap1 (MGI:1919786,MGI:3615484)
chr6	159169400	159272108	6q25	6q25.3	609991	FNDC1, AGS8, KIAA1866	Fibronectin type III domain-containing protein 1	FNDC1	84624	ENSG00000164694			Fndc1 (MGI:1915905)
chr6	159669069	159762281	6q25.3	6q25.3	147460	SOD2, MNSOD, MVCD6	Superoxide dismutase-2, mitochondrial	SOD2	6648	ENSG00000291237		{Microvascular complications of diabetes 6}, 612634 (3)	Sod2 (MGI:98352)
chr6	159726693	159756319	6q25.3	6q25.3	605442	WTAP	Wilms tumor 1-associating protein	WTAP	9589	ENSG00000146457			Wtap (MGI:1926395)
chr6	159762045	159779112	6q25.3-q26	6q25.3	100678	ACAT2	Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)	ACAT2	39	ENSG00000120437	encoded on strand opposite TCP1	?ACAT2 deficiency, 614055 (1), Isolated cases	Acat2,Acat3 (MGI:109182,MGI:87871)
chr6	159778498	159789602	6q25.3-q26	6q25.3	186980	TCP1, CCT1, IDDPMGS	T-complex 1	TCP1	6950	ENSG00000120438		Intellectual developmental disorder with polymicrogyria and seizures, 621021 (3), Autosomal dominant	Tcp1 (MGI:98535)
chr6	159789812	159798429	6q25.3	6q25.3	611831	MRPL18	Mitochondrial ribosomal protein L18	MRPL18	29074	ENSG00000112110			Mrpl18 (MGI:1914931)
chr6	159799455	159820704	6q25.3	6q25.3	619529	PNLDC1, TRIMMER, SPGF57	PARN-like ribonuclease domain-containing exonuclease 1	PNLDC1	154197	ENSG00000146453		Spermatogenic failure 57, 619528 (3), Autosomal recessive	Pnldc1 (MGI:2685159)
chr6	159888787	159917447	6q24-q27	6q25.3	165180	MAS1	Oncogene MAS1	MAS1	4142	ENSG00000130368			Mas1 (MGI:96918)
chr6	159969082	160111504	6q26	6q25.3	147280	IGF2R, MPRI	Insulin-like growth factor-2 receptor (mannose-6-phosphate receptor, cation-independent)	IGF2R	3482	ENSG00000197081	behaves as a tumor suppressor	Hepatocellular carcinoma, somatic, 114550 (3)	Igf2r (MGI:96435)
chr6	160003291	160007664	6q26	6q25.3	604893	AIRN, AIR	Antisense IGF2R RNA, noncoding	AIRN	100271873	ENSG00000268257			Airn (MGI:1353471)
chr6	160121815	160158718	6q26	6q25.3	602607	SLC22A1, OCT1	Solute carrier family 22 (organic cation transporter), member 1	SLC22A1	6580	ENSG00000175003			Slc22a1 (MGI:108111)
chr6	160216755	160258821	6q26	6q25.3	602608	SLC22A2, OCT2	Solute carrier family 22 (organic cation transporter), member 2	SLC22A2	6582	ENSG00000112499			Slc22a2 (MGI:1335072)
chr6	160348378	160452577	6q27	6q25.3	604842	SLC22A3, EMT	Solute carrier family 22 (extraneuronal monoamine transporter), member 3	SLC22A3	6581	ENSG00000146477			Slc22a3 (MGI:1333817)
chr6	160466555	160511124	6q26-q27	6q25.3	611682	LPAL2, APOARGC	Lipoprotein(a)-like 2	LPAL2	80350	ENSG00000290613			
chr6	160531482	160664275	6q27	6q25.3-q26	152200	LPA	Apolipoprotein Lp(a)	LPA	4018	ENSG00000198670	absent in mice	[LPA deficiency, congenital], 618807 (3), Autosomal dominant; {Coronary artery disease, susceptibility to}, 618807 (3), Autosomal dominant	
chr6	160600001	170805979	6q26-q27		608219	DFNB38	Deafness, autosomal recessive 38		337991			Deafness, autosomal recessive 38, 608219 (2), Autosomal recessive	
chr6	160600001	170805979	6q26-q27		614347	MRT28	Intellectual developmental disorder, autosomal recessive 28		100852396		between rs6935718 and rs3886091	Intellectual developmental disorder, autosomal recessive 28, 614347 (2), Autosomal recessive	
chr6	160702193	160754097	6q26	6q26	173350	PLG, HAE4	Plasminogen	PLG	5340	ENSG00000122194	20cM from TCP10A	Dysplasminogenemia, 217090 (3), Autosomal recessive; Angioedema, hereditary, 4, 619360 (3), Autosomal dominant; Plasminogen deficiency, type I, 217090 (3), Autosomal recessive	Plg (MGI:97620)
chr6	160991769	161117380	6q26	6q26	602425	MAP3K4, MEKK4, MTK1, MAPKKK4	Mitogen-activated protein kinase kinase kinase 4	MAP3K4	4216	ENSG00000085511			Map3k4 (MGI:1346875)
chr6	161129967	161274061	6q26	6q26	614795	AGPAT4	1-acylglycerol-3-phosphate O-acyltransferase 4	AGPAT4	56895	ENSG00000026652			Agpat4 (MGI:1915512)
chr6	161347417	162727766	6q25.2-q27	6q26	602544	PRKN, PARK2, PDJ	Parkin RBR E3 ubiquitin protein ligase	PRKN	5071	ENSG00000185345	shares 5' regulatory region and both 3' UTRs with PACRG	Adenocarcinoma of lung, somatic, 211980 (3); Parkinson disease, juvenile, type 2, 600116 (3), Autosomal recessive; Ovarian cancer, somatic, 167000 (3)	Prkn (MGI:1355296)
chr6	162727132	163315500	6q25-q27	6q26	608427	PACRG	Parkin coregulated gene	PACRG	135138	ENSG00000112530	shares 5' regulatory region and both 3' UTRs with PARK2		Pacrg (MGI:1916560)
chr6	163413065	163413950	6q26	6q26	615930	CAHM, LINC00468	Colorectal adenocarcinoma hypermethylated gene, noncoding	CAHM	100526820				
chr6	163414718	163578592	6q26	6q26	609590	QKI, QK1	QKI, KH domain-containing RNA-binding protein	QKI	9444	ENSG00000112531			Qki (MGI:97837)
chr6	164100001	170805979	6q27		215400	CHDM	Chordoma				associated with duplication of the T gene	{Chordoma, susceptibility to}, 215400 (4), Autosomal dominant	
chr6	164100001	170805979	6q27		611382	KAZA3	Kala-azar, susceptibility to, 3		101241899			{Kala-azar, susceptibility to, 3}, 611382 (2)	
chr6	165327289	165988052	6q27	6q27	610652	PDE10A, IOLOD, ADSD2	Phosphodiesterase 10A	PDE10A	10846	ENSG00000112541		Striatal degeneration, autosomal dominant, 616922 (3), Autosomal dominant; Dyskinesia, limb and orofacial, infantile-onset, 616921 (3), Autosomal recessive	Pde10a (MGI:1345143)
chr6	166157656	166168655	6q27	6q27	601397	TBXT, T, TFT, SAVA	T-box transcription factor T	TBXT	6862	ENSG00000164458		Sacral agenesis with vertebral anomalies, 615709 (3), Autosomal recessive; {Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant	T (MGI:98472)
chr6	166364919	166382940	6q27	6q27	614738	MPC1, BRP44L, MPYCD	Mitochondrial pyruvate carrier 1	MPC1	51660	ENSG00000060762		Mitochondrial pyruvate carrier deficiency, 614741 (3), Autosomal recessive	Mpc1 (MGI:1915240)
chr6	166409364	166862773	6q27	6q27	601685	RPS6KA2, RSK3	Ribosomal protein S6 kinase A2	RPS6KA2	6196	ENSG00000071242			Rps6ka2 (MGI:1342290)
chr6	166922113	166956550	6q27	6q27	612944	RNASET2, RNASE6PL	Ribonuclease T2	RNASET2	8635	ENSG00000026297		Leukoencephalopathy, cystic, without megalencephaly, 612951 (3), Autosomal recessive	Rnaset2a,Rnaset2b (MGI:1915445,MGI:3702087)
chr6	166999397	167052718	6q27	6q27	605392	FGFR1OP, FOP	Fibroblast growth factor receptor-1 oncogene partner	CEP43	11116	ENSG00000213066	fusion gene with ZNF198, CEP1, and FGFR1	Myeloproliferative disorder, 605392 (2)	Cep43 (MGI:1922546)
chr6	167111795	167139141	6q27	6q27	601835	CCR6, CMKBR6, CKRL3, GPR29, GPRCY4	Chemokine (C-C) receptor 6	CCR6	1235	ENSG00000112486			Ccr6 (MGI:1333797)
chr6	167155247	167157980	6q27	6q27	602043	GPR31	G protein-coupled receptor-31	GPR31	2853	ENSG00000120436			Gpr31b (MGI:1354372)
chr6	167228300	167237512	6q27	6q27	616837	HPAT5	Human pluripotency-associated transcript 5, noncoding		112590798	ENSG00000280707			
chr6	167269032	167316014	6q27	6q27	607995	UNC93A	unc-93 homolog A	UNC93A	54346	ENSG00000112494			Unc93a,Unc93a2 (MGI:1933250,MGI:3712668)
chr6	167373090	167384510	6q27	6q27	187020	TCP10	T-complex 10 (a murine tcp homolog)	TCP10L3	6953	ENSG00000290751			
chr6	167826564	167972023	6q27	6q27	159559	AFDN, MLLT4, AF6	Afadin	AFDN	4301	ENSG00000130396			Afdn (MGI:1314653)
chr6	167997671	168045091	6q27	6q27	603815	KIF25, KNSL3	Kinesin family member 25	KIF25	3834	ENSG00000125337			
chr6	168292830	168319777	6q27	6q27	608966	DACT2, DPR2, DAPPER2	Dapper, antagonist of beta-catenin, 2	DACT2	168002	ENSG00000164488			Dact2 (MGI:1920347)
chr6	168441184	168667992	6q27	6q27	607223	SMOC2, SMAP2, DTDP1	Secreted modular calcium-binding protein 2	SMOC2	64094	ENSG00000112562		Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3), Autosomal recessive	Smoc2 (MGI:1929881)
chr6	169215785	169253846	6q27	6q27	188061	THBS2, EDSCLL3	Thrombospondin 2	THBS2	7058	ENSG00000186340	mutation identifed in 1 EDSCL3 family	?Ehlers-Danlos syndrome, classic-like, 3, 620865 (3), Autosomal dominant; {Lumbar disc herniation, susceptibility to}, 603932 (3)	Thbs2 (MGI:98738)
chr6	169426420	169702029	6q27	6q27	620936	WDR27	WD repeat-containing protein 27	WDR27	253769	ENSG00000184465			Wdr27 (MGI:1918932)
chr6	169702126	169706360	6q27	6q27	616987	C6orf120	Chromosome 6 open reading frame 120	C6orf120	387263	ENSG00000185127			1600012H06Rik (MGI:1915162)
chr6	169703902	169724500	6q26	6q27	613069	PHF10, BAF45A	PHD finger protein 10	PHF10	55274	ENSG00000130024			Phf10 (MGI:1919307)
chr6	169725091	169751572	6q27	6q27	186977	DYNLT2, TCTE3	Dynein light chain Tctex-type 2	DYNLT2	6991	ENSG00000184786			Dynlt2a1,Dynlt2a2,Dynlt2a3 (MGI:3781595,MGI:3809205,MGI:98642)
chr6	169751306	169781600	6q27	6q27	615532	ERMARD, C6orf70, PVNH6	Endoplasmic reticulum membrane-associated RNA degradation protein	ERMARD	55780	ENSG00000130023		?Periventricular nodular heterotopia 6, 615544 (3), Autosomal dominant	Ermard,Ermardl1,Ermardl2 (MGI:1917317,MGI:3583895,MGI:3810125)
chr6	170282206	170291078	6q27	6q27	606582	DLL1, DELTA1, NEDBAS	Delta-like canonical Notch ligand 1	DLL1	28514	ENSG00000198719		Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, 618709 (3), Autosomal dominant	Dll1 (MGI:104659)
chr6	170290703	170407067	6q26-q27	6q27	612266	FAM120B, PGCC1, CCPG, KIAA1838	Family with sequence similarity 120, member B	FAM120B	84498	ENSG00000112584			Fam120b (MGI:1914794)
chr6	170535120	170553307	6q27	6q27	602017	PSMB1, NEDMHAL	Proteasome subunit, beta type, 1	PSMB1	5689	ENSG00000008018	mutation identified in 1 NEDNHAL family	?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language, 620038 (3), Autosomal recessive	Psmb1 (MGI:104884)
chr6	170554369	170572859	6q27	6q27	600075	TBP, SCA17, HDL4	TATA box binding protein	TBP	6908	ENSG00000112592		Spinocerebellar ataxia 17, 607136 (3), Autosomal dominant; {Parkinson disease, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant	Tbp (MGI:101838)
chr6	170575295	170584637	6q27	6q27	600866	PDCD2	Programmed cell death 2	PDCD2	5134	ENSG00000071994			Pdcd2 (MGI:104643)
chr6	1	170805979	Chr.6		109180	BEVI	Baboon M7 virus replication		628				
chr6	1	170805979	Chr.6		137010	FEA	F9 embryonic antigen		7959				
chr6	1	170805979	Chr.6		153435	LAKLG, LAKL	Lymphokine-activated killer cell ligand		3905				
chr6	1	170805979	Chr.6		158050	MRBC	Monkey RBC receptor		7960				
chr6	1	170805979	Chr.6		187330	TS546	Temperature sensitivity complementation, cell cycle specific, ts546 cells		7963				
chr7	1	7200000	7p22		605626	ERVK-6	Endogenous retroviral group K, member 6		64006				
chr7	1	13700000	7p22.3-p21.3		614238	HYPT10	Hypotrichosis 10		100736251		between D7S1532 and D7S3047	Hypotrichosis 10, 614238 (2), Autosomal recessive	
chr7	192571	260772	7p22	7p22.3	611061	FAM20C, DMP4	Family with sequence similarity 20, member C	FAM20C	56975	ENSG00000177706		Raine syndrome, 259775 (3), Autosomal recessive	Fam20c (MGI:2136853)
chr7	497258	520700	7p22	7p22.3	173430	PDGFA	Platelet-derived growth factor, alpha polypeptide	PDGFA	5154	ENSG00000197461			Pdgfa (MGI:97527)
chr7	549197	728934	7pter-p22	7p22.3	176911	PRKAR1B, MASNS	Protein kinase, cAMP-dependent, regulatory, type I, beta	PRKAR1B	5575	ENSG00000188191		Marbach-Schaaf neurodevelopmental syndrome, 619680 (3), Autosomal dominant	Prkar1b (MGI:97759)
chr7	726699	786475	7p22.3	7p22.3	614864	DNAAF5, HEATR2, CILD18	Dynein axonemal assembly factor 5	DNAAF5	54919	ENSG00000164818		Ciliary dyskinesia, primary, 18, 614874 (3), Autosomal recessive	Dnaaf5 (MGI:3616079)
chr7	815557	874934	7p22.3	7p22.3	607723	SUN1, UNC84A, KIAA0810	SAD1 and UNC84 domain-containing protein 1	SUN1	23353	ENSG00000164828			Sun1 (MGI:1924303)
chr7	876554	896436	7p22.3	7p22.3	612056	GET4, C7orf20, CEE, CDG2Y	Guided entry of tail-anchored proteins factor 4	GET4	51608	ENSG00000239857	mutation identified in 1 CDG2Y patient	?Congenital disorder of glycosylation, type IIy, 620200 (3), Autosomal recessive	Get4 (MGI:1914854)
chr7	897900	955407	7p22.3	7p22.3	608114	CENTA1	Centaurin, alpha-1	ADAP1	11033	ENSG00000105963			Adap1 (MGI:2442201)
chr7	964852	975549	7p22.3	7p22.3	610429	COX19	Cytochrome c oxidase assembly protein Cox19	COX19	90639	ENSG00000240230			Cox19 (MGI:1915283)
chr7	983181	989640	7p22.3	7p22.3	615967	CYP2W1	Cytochrome P450, family 2, subfamily W, polypeptide 1	CYP2W1	54905	ENSG00000073067			Cyp2w1 (MGI:3616076)
chr7	1022933	1023026	7p22.3	7p22.3	615977	MIR339	Micro RNA 339	MIR339	442907	ENSG00000199023			Mir339 (MGI:3619354)
chr7	1087118	1093810	7p22	7p22.3	601805	GPER1, CMKRL2, GPR30	G protein-coupled estrogen receptor 1	GPER1	2852	ENSG00000164850			Gper1 (MGI:1924104)
chr7	1148850	1160196	7p22.3	7p22.3	610699	ZFAND2A, AIRAP	Zinc finger AN1 domain-containing protein 2A	ZFAND2A	90637	ENSG00000178381			Zfand2a (MGI:2140729)
chr7	1434359	1459470	7p22.3	7p22.3	620912	MICALL2, JRAB	MICAL-like protein 2	MICALL2	79778	ENSG00000164877			Micall2 (MGI:2444818)
chr7	1470277	1504389	7p22.3	7p22.3	611345	INTS1, INT1, KIAA1440, NDCAGF	Integrator complex subunit 1	INTS1	26173	ENSG00000164880		Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 (3), Autosomal recessive	Ints1 (MGI:1915760)
chr7	1530702	1543043	7p22	7p22.3	600197	MAFK, NFE2U	MAF bZIP transcription factor K	MAFK	7975	ENSG00000198517			Mafk (MGI:99951)
chr7	1567332	1570032	7p22.3	7p22.3	617528	PSMG3, PAC3	Proteasome assembly chaperone 3	PSMG3	84262	ENSG00000157778			Psmg3 (MGI:1913756)
chr7	1666064	1747946	7p22.3	7p22.3	614964	ELFN1, PPP1R28	Extracellular leucine-rich repeat and fibronectin type III domain-containing protein 1	ELFN1	392617	ENSG00000225968			Elfn1 (MGI:2442479)
chr7	1815795	2232945	7p22	7p22.3	602686	MAD1L1, TXBP181, MVA7	Mitotic arrest-deficient 1, yeast, homolog-like 1	MAD1L1	8379	ENSG00000002822		Prostate cancer, somatic, 176807 (3); Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, 620189 (3), Autosomal recessive; Lymphoma, B-cell, somatic (3)	Mad1l1 (MGI:1341857)
chr7	2234195	2242205	7p22	7p22.3	606906	MRM2, FTSJ2, FJH1, MTDPS17	Mitochondrial ribosomal RNA methyltransferase 2	MRM2	29960	ENSG00000122687		Mitochondrial DNA depletion syndrome 17, 618567 (3), Autosomal recessive	Mrm2 (MGI:1915267)
chr7	2242226	2251145	7p22	7p22.3	600312	NUDT1, MTH1	Nudix hydrolase 1	NUDT1	4521	ENSG00000106268			Nudt1 (MGI:109280)
chr7	2251770	2354497	7p22.3	7p22.3	614905	SNX8	Sorting nexin 8	SNX8	29886	ENSG00000106266			Snx8 (MGI:2443816)
chr7	2354086	2380745	7p22.2	7p22.3	603917	EIF3B, EIF3S9, PRT1	Eukaryotic translation initiation factor 3, subunit B	EIF3B	8662	ENSG00000106263			Eif3b (MGI:106478)
chr7	2403448	2448484	7p22	7p22.3	610129	CHST12, C4ST2	Carbohydrate sulfotransferase 12	CHST12	55501	ENSG00000136213			Chst12 (MGI:1929064)
chr7	2474728	2476398	7p22.3	7p22.3	619187	GRIFIN	Galectin-related interfiber protein	GRIFIN	402635	ENSG00000275572			Grifin (MGI:1925248)
chr7	2512529	2529177	7p22	7p22.3	602576	LFNG, SCDO3	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	LFNG	3955	ENSG00000106003		Spondylocostal dysostosis 3, autosomal recessive, 609813 (3), Autosomal recessive	Lfng (MGI:1095413)
chr7	2537810	2555524	7p22.3	7p22.3	614506	BRAT1, BAAT1, C7orf27, RMFSL, NEDCAS	BRCA1-associated ATM activator 1	BRAT1	221927	ENSG00000106009		Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3), Autosomal recessive; Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3), Autosomal recessive	Brat1 (MGI:1891679)
chr7	2558979	2614728	7p22.3	7p22.3	617631	IQCE, KIAA1023, PAPA7	IQ domain-containing protein E	IQCE	23288	ENSG00000106012		Polydactyly, postaxial, type A7, 617642 (3), Autosomal recessive	Iqce (MGI:1921489)
chr7	2631986	2664802	7p22.3	7p22.3	608919	TTYH3, KIAA1691	Tweety family member 3	TTYH3	80727	ENSG00000136295			Ttyh3 (MGI:1925589)
chr7	2679522	2765138	7p22.3	7p22.3	615168	AMZ1, KIAA1950	Archaelysin family metallopeptidase 1	AMZ1	155185	ENSG00000174945			Amz1 (MGI:2442258)
chr7	2728105	2844308	7p22.2	7p22.3-p22.2	604394	GNA12	Guanine nucleotide-binding protein, alpha-12	GNA12	2768	ENSG00000146535			Gna12 (MGI:95767)
chr7	2906142	3043867	7p22	7p22.2	607210	CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11A	Caspase recruitment domain-containing protein 11	CARD11	84433	ENSG00000198286		B-cell expansion with NFKB and T-cell anergy, 616452 (3), Autosomal dominant; Immunodeficiency 11B with atopic dermatitis, 617638 (3), Autosomal dominant; Immunodeficiency 11A, 615206 (3), Autosomal recessive	Card11 (MGI:1916978)
chr7	3301252	4269000	7p22.2	7p22.2	607216	SDK1	Sidekick cell adhesion molecule 1	SDK1	221935	ENSG00000146555			Sdk1 (MGI:2444413)
chr7	4500001	7200000	7p22.1		185100	STBMS1	Strabismus, susceptibility to, 1		100188805		max lod at marker 1911/1912	{Strabismus, susceptibility to, 1}, 185100 (2)	
chr7	4682295	4771442	7p22.1	7p22.1	616302	FOXK1, MNF	Forkhead box K1	FOXK1	221937	ENSG00000164916			Foxk1 (MGI:1347488)
chr7	4775623	4794397	7p22.1	7p22.1	613653	AP5Z1, KIAA0415, SPG48	Adaptor-related protein complex 5, zeta-1 subunit	AP5Z1	9907	ENSG00000242802		Spastic paraplegia 48, autosomal recessive, 613647 (3), Autosomal recessive	Ap5z1 (MGI:1924908)
chr7	4797055	4883716	7p22.1	7p22.1	611491	RADIL, KIAA1849	RAP GTPase interactor	RADIL	55698	ENSG00000157927			Radil (MGI:2443088)
chr7	4857738	4862030	7p22.1	7p22.1	607436	PAPOLB, TPAP	Poly(A) polymerase, beta	PAPOLB	56903	ENSG00000218823			Papolb (MGI:1932115)
chr7	4892245	4959187	7p22.1	7p22.1	614581	MMD2, PAQR10	Monocyte-to-macrophage differentiation-associated protein 2	MMD2	221938	ENSG00000136297			Mmd2 (MGI:1922354)
chr7	5045860	5069487	7p22.1	7p22.1	608191	RBAK	RB-associated KRAB zinc finger	RBAK	57786	ENSG00000146587			Rbak (MGI:1927369)
chr7	5190233	5233855	7p22.2	7p22.1	609225	WIPI2, IDDSSA	WD40 repeat protein interacting with phosphoinositides 2	WIPI2	26100	ENSG00000157954	mutation identified in 1 IDDSSA family	?Intellectual developmental disorder with short stature and variable skeletal anomalies, 618453 (3), Autosomal recessive	Wipi2 (MGI:1923831)
chr7	5282943	5306912	7p22.1	7p22.1	609149	SLC29A4, PMAT, ENT4	Solute carrier family 29 (monoamine transporter), member 4	SLC29A4	222962	ENSG00000164638			Slc29a4 (MGI:2385330)
chr7	5306811	5423834	7p22.1	7p22.1	620902	TNRC18	Trinucleotide repeat-containing gene 18	TNRC18	84629	ENSG00000182095			Tnrc18 (MGI:3648294)
chr7	5454425	5513809	7p22.1	7p22.1	609084	FBXL18, FBL18	F-box and leucine-rich repeat protein 18	FBXL18	80028	ENSG00000155034			Fbxl18 (MGI:2444450)
chr7	5527148	5530601	7p22-p12	7p22.1	102630	ACTB, BRWS1, BNS, CSMH, DDS1, BRWS1, THC8	Actin, beta	ACTB	60	ENSG00000075624		Baraitser-Winter syndrome 1, 243310 (3), Autosomal dominant; Becker nevus, syndromic or isolated, somatic mosaic, 604919 (3); Thrombocytopenia 8, with dysmorphic features and developmental delay, 620475 (3), Autosomal dominant; Dystonia-deafness syndrome 1, 607371 (3), Autosomal dominant; Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic, 620470 (3)	Actb (MGI:87904)
chr7	5592816	5606655	7p22	7p22.1	602689	FSCN1, SNL	Fascin homolog 1, actin-bundling protein (singed, Drosophila, homolog-like)	FSCN1	6624	ENSG00000075618			Fscn1 (MGI:1352745)
chr7	5620047	5781663	7p22	7p22.1	609948	RNF216, TRIAD3, ZIN, CAHH	RING finger protein 216	RNF216	54476	ENSG00000011275		Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3), Autosomal recessive	Rnf216 (MGI:1344349)
chr7	5859718	5886363	7p22.1	7p22.1	164795	OCM	Oncomodulin	OCM	654231	ENSG00000122543			Ocm (MGI:97401)
chr7	5898733	5926550	7p22.1	7p22.1	620660	CCZ1, C7orf28A	CCZ1 homolog, vacuolar protein trafficking- and biogenesis-associated protein	CCZ1	51622	ENSG00000122674			Ccz1 (MGI:2141070)
chr7	5970925	6009106	7p22	7p22.1	600259	PMS2, PMSL2, HNPCC4, LYNCH4	PMS1 homolog 2, mismatch repair system component	PMS2	5395	ENSG00000122512		Lynch syndrome 4, 614337 (3); Mismatch repair cancer syndrome 4, 619101 (3), Autosomal recessive	Pms2 (MGI:104288)
chr7	6009272	6023834	7p22	7p22.1	600859	AIMP2, JTV1, HLD17	Aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	AIMP2	7965	ENSG00000106305		Leukodystrophy, hypomyelinating, 17, 618006 (3), Autosomal recessive	Aimp2 (MGI:2385237)
chr7	6022247	6059175	7p22.1	7p22.1	613635	EIF2AK1, HRI, LEMSPAD	Eukaryotic translation initiation factor 2-alpha kinase 1	EIF2AK1	27102	ENSG00000086232	mutation identified in 1 LEMSPAD patient	?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome, 618878 (3), Autosomal dominant	Eif2ak1 (MGI:1353448)
chr7	6081241	6161564	7p22.1	7p22.1	620946	USP42	Ubiquitin-specific peptidase 42	USP42	84132	ENSG00000106346			Usp42 (MGI:1924050)
chr7	6161779	6272624	7p22.1	7p22.1	605081	CYTH3, PSCD3, ARNO3, GRP1	Cytohesin 3	CYTH3	9265	ENSG00000008256			Cyth3 (MGI:1335107)
chr7	6329411	6348967	7p22.1	7p22.1	616628	FAM220A, SIPAR, ACPIN1, C7orf70	Family with sequence similarity 220, member A	FAM220A	84792	ENSG00000178397			Fam220a (MGI:1914488)
chr7	6374527	6403967	7p22.1	7p22.1	602048	RAC1, MRD48	Rac family small GTPase 1	RAC1	5879	ENSG00000136238		Intellectual developmental disorder, autosomal dominant 48, 617751 (3), Autosomal dominant	Rac1 (MGI:97845)
chr7	6409129	6447954	7p22.1	7p22.1	614016	DAGLB	Diacylglycerol lipase, beta	DAGLB	221955	ENSG00000164535			Daglb (MGI:2442032)
chr7	6461089	6484152	7p22.1	7p22.1	609024	KDELR2, ELP1, OI21	KDEL endoplasmic reticulum protein retention receptor 2	KDELR2	11014	ENSG00000136240		Osteogenesis imperfecta, type XXI, 619131 (3), Autosomal recessive	Kdelr2 (MGI:1914163)
chr7	6496778	6551461	7p22.1	7p22.1	610639	GRID2IP1	GRID2-interacting protein 1	GRID2IP	392862	ENSG00000215045			Grid2ip (MGI:2176213)
chr7	6688433	6706947	7p22-p21	7p22.1	194536	ZNF12	Zinc finger protein-12 (KOX3)	ZNF12	7559	ENSG00000164631			Zfp12 (MGI:99157)
chr7	7157377	7248616	7p14-p13	7p22.1-p21.3	610555	C1GALT1	Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	C1GALT1	56913	ENSG00000106392			C1galt1 (MGI:2151071)
chr7	7200001	16500000	7p21.3-p21.2		616986	LOC105375159	Long intergenic noncoding RNA AC011288.2						
chr7	7200001	28800000	7p21-p15		153880	MDDC	Macular dystrophy, dominant cystoid		1541		?allelic to RP9	Macular dystrophy, dominant cystoid, 153880 (2), Autosomal dominant	
chr7	7338194	7543870	7p21.3	7p21.3	609996	COL28A1	Collagen, type XXVIII, alpha-1 polypeptide	COL28A1	340267	ENSG00000215018			Col28a1 (MGI:2685312)
chr7	7566884	7609144	7p21.3	7p21.3	615359	MIOS	Missing oocyte/meiosis regulator, Drosophila, homolog of	MIOS	54468	ENSG00000164654			Mios (MGI:2182066)
chr7	7636518	7718607	7p22	7p21.3	179837	RPA3	Replication protein A3, 14kD	RPA3	6119	ENSG00000106399			Rpa3 (MGI:1915490)
chr7	7968796	8089080	7p22	7p21.3	614283	GLCCI1, TSSN1, GCTR	Glucocorticoid-induced transcript 1	GLCCI1	113263	ENSG00000106415		{Glucocorticoid therapy, response to}, 614400 (3)	Glcci1 (MGI:2179717)
chr7	8113184	8262555	7p22	7p21.3	147625	ICA1	Islet cell autoantigen 1, 69kD	ICA1	3382	ENSG00000003147			Ica1 (MGI:96391)
chr7	8433609	8752961	7p21.3	7p21.3	604639	NXPH1, NPH1	Neurexophilin 1	NXPH1	30010	ENSG00000122584			Nxph1 (MGI:107492)
chr7	10931943	10940153	7p21.3	7p21.3	603833	COXFA4, NDUFA4, MC4DN21	Cytochrome c oxidase subunit FA4	NDUFA4	4697	ENSG00000189043	mutation identified in 1 MC4DN21 family	?Mitochondrial complex IV deficiency, nuclear type 21, 619065 (3), Autosomal recessive	Ndufa4 (MGI:107686)
chr7	10973872	11169618	7p21.3	7p21.3	619907	PHF14, KIAA0783	PHD finger protein 14	PHF14	9678	ENSG00000106443			Phf14 (MGI:1923539)
chr7	11370365	11832198	7p21.3	7p21.3	612249	THSD7A, KIAA0960	Thrombospondin type-1 domain-containing protein 7A	THSD7A	221981	ENSG00000005108			Thsd7a (MGI:2685683)
chr7	12211294	12243367	7p21.3	7p21.3	613413	TMEM106B, HLD16	Transmembrane protein 106B	TMEM106B	54664	ENSG00000106460		Leukodystrophy, hypomyelinating, 16, 617964 (3), Autosomal dominant	Tmem106b (MGI:1919150)
chr7	12570720	12660182	7p21.3	7p21.3	613416	SCIN, KIAA1905	Scinderin	SCIN	85477	ENSG00000006747			Scin (MGI:1306794)
chr7	12686903	12690958	7p21.3	7p21.3	604786	ARL4A, ARL4	ADP ribosylation factor-like GTPase 4A	ARL4A	10124	ENSG00000122644			Arl4a (MGI:99437)
chr7	13700001	34900000	7p21.2-p14.3		613576	EDSS2	Ectodermal dysplasia-syndactyly syndrome 2		100505394		between D7S488 and D7S817	Ectodermal dysplasia-syndactyly syndrome 2, 613576 (2), Autosomal recessive	
chr7	13700001	16500000	7p21.2		613462	FGQTL4	Fasting plasma glucose level QTL 4		100499169		associated with rs2191349	[Fasting plasma glucose level QTL 4], 613462 (2)	
chr7	13891229	13991425	7p22	7p21.2	600541	ETV1	ETS variant transcription factor 1	ETV1	2115	ENSG00000006468	fused with EWS in some Ewing sarcoma		Etv1 (MGI:99254)
chr7	14145049	14974858	7p21.2	7p21.2	604070	DGKB, DGK, KIAA0718	Diacylglycerol kinase, beta, 90kD	DGKB	1607	ENSG00000136267			Dgkb (MGI:2442474)
chr7	15117223	15562015	7p21.2	7p21.2	613738	AGMO, TMEM195	Alkylglycerol monooxygenase	AGMO	392636	ENSG00000187546			Agmo (MGI:2442495)
chr7	15611212	15686683	7p22.1-p21.3	7p21.2	600535	MEOX2	Mesenchyme homeobox 2	MEOX2	4223	ENSG00000106511			Meox2 (MGI:103219)
chr7	16087525	16421538	7p21.2	7p21.2	614631	CRPPA, ISPD, MDDGA7, MDDGC7, LGMDR20	CDP-L-ribitol pyrophosphorylase A	CRPPA	729920	ENSG00000214960		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3), Autosomal recessive	Crppa (MGI:1923097)
chr7	16461481	16465738	7p21.2	7p21.2	609675	SOSTDC1, ECTODIN, USAG1	Sclerostin domain-containing protein 1	SOSTDC1	25928	ENSG00000171243			Sostdc1 (MGI:1913292)
chr7	16646181	16706517	7p21.1	7p21.1	619275	BZW2, 5MP1	Basic leucine zipper domain- and W2 domain-containing protein 2	BZW2	28969	ENSG00000136261			Bzw2 (MGI:1914162)
chr7	16753755	16784536	7p21.1	7p21.1	613139	TSPAN13, NET6	Tetraspanin 13	TSPAN13	27075	ENSG00000106537			Tspan13 (MGI:1913359)
chr7	16791811	16804999	7p21.3	7p21.1	606358	AGR2, AG2, RIFTD	Anterior gradient 2, protein disulphide isomerase family member	AGR2	10551	ENSG00000106541		Respiratory infections, recurrent, and failure to thrive with or without diarrhea, 620233 (3), Autosomal recessive	Agr2 (MGI:1344405)
chr7	16854681	16881983	7p21.3	7p21.1	609482	AGR3, BCMP11	Anterior gradient 3, Xenopus, homolog of	AGR3	155465	ENSG00000173467			Agr3 (MGI:2685734)
chr7	17298652	17346147	7p15	7p21.1	600253	AHR, RP85, FVH3	Aryl hydrocarbon receptor	AHR	196	ENSG00000106546	mutation identified in 1 RP85 family	Foveal hypoplasia 3, 620958 (3), Autosomal recessive; ?Retinitis pigmentosa 85, 618345 (3), Autosomal recessive	Ahr (MGI:105043)
chr7	17790761	17940494	7p21.1	7p21.1	606589	SNX13, KIAA0713	Sorting nexin 13	SNX13	23161	ENSG00000071189			Snx13 (MGI:2661416)
chr7	18026770	18027846	7p21.2	7p21.1	611566	PRPS1L1, PRPS3	Phosphoribosylpyrophosphate synthetase 1-like 1	PRPS1L1	221823	ENSG00000229937			Prps1l1 (MGI:1922706)
chr7	18086825	19002416	7p21-p15	7p21.1	606543	HDAC9, MITR, HDAC7B, KIAA0744, ARCND4	Histone deacetylase 9	HDAC9	9734	ENSG00000048052	mutation identified in 1 ARCND4 family	?Auriculocondylar syndrome 4, 620457 (3), Autosomal dominant	Hdac9 (MGI:1931221)
chr7	19113047	19117636	7p21	7p21.1	601622	TWIST1, ACS3, SCS, CRS1, SWCOS	TWIST, Drosophila, homolog of, 1	TWIST1	7291	ENSG00000122691		Craniosynostosis 1, 123100 (3), Autosomal dominant; Robinow-Sorauf syndrome, 180750 (3), Autosomal dominant; Sweeney-Cox syndrome, 617746 (3), Autosomal dominant; Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3), Autosomal dominant	Twist1 (MGI:98872)
chr7	19144782	19145421	7p21.1	7p21.1	617578	FERD3L, NTWIST, NATO3, PTFB	FER3-like bHLH transcription factor	FERD3L	222894	ENSG00000146618			Ferd3l (MGI:2150010)
chr7	19695461	19709037	7p21	7p21.1	608312	POLR1F, TWISTNB	Polymerase I, RNA, subunit F	POLR1F	221830	ENSG00000105849	pseudogene on 6q14.3		Polr1f (MGI:106292)
chr7	20134655	20217384	7p21.1	7p21.1	612646	MACC1	MET transcriptional regulator MACC1	MACC1	346389	ENSG00000183742			Macc1 (MGI:2685113)
chr7	20329766	20415754	7p21.1	7p21.1	604160	ITGB8	Integrin, beta-8	ITGB8	3696	ENSG00000105855			Itgb8 (MGI:1338035)
chr7	20615667	20757008	7p15.3	7p21.1	611785	ABCB5	ATP-binding cassette, subfamily B, member 5	ABCB5	340273	ENSG00000004846			Abcb5 (MGI:1924956)
chr7	20782279	20786886	7p21	7p21.1	608306	SP8, BTD	Transcription factor Sp8	SP8	221833	ENSG00000164651			Sp8 (MGI:2443471)
chr7	20900001	45400000	7p15-p13		613219	FGQTL2, BWQTL1	Fasting plasma glucose level QTL 2; Birth weight QTL 1		100379216		associated with rs4607517	[Fasting plasma glucose level QTL 2], 613219 (2); [Birth weight QTL 1], 613219 (2)	
chr7	20900001	28800000	7p15		164865	MYCLK1	Avian myelocytomatosis viral (v-myc) oncogene homolog like 1						
chr7	20900001	28800000	7p15		608367	MYP17, MYP4	Myopia 17		100359401		previously assigned to 7q36 (MYP4)	Myopia 17, 608367 (2), Autosomal dominant	
chr7	20900001	28800000	7p15		612737	STQTL17	Stature quantitative trait locus 17		100301526		associated with rs1635852 and rs849140	{Stature QTL 17}, 612737 (2)	
chr7	21428083	21514822	7p15	7p15.3	600540	SP4	Sp4 transcription factor	SP4	6671	ENSG00000105866			Sp4 (MGI:107595)
chr7	21543039	21901839	7p21	7p15.3	603339	DNAH11, DNAHC11, CILD7, DNAHBL	Dynein, axonemal, heavy chain-11	DNAH11	8701	ENSG00000105877		Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3), Autosomal recessive	Dnah11 (MGI:1100864)
chr7	21900899	21945899	7p15	7p15.3	609685	CDCA7L, R1, JPO2	Cell division cycle-associated protein 7-like	CDCA7L	55536	ENSG00000164649			Cdca7l (MGI:2384982)
chr7	22118236	22357154	7p15.3	7p15.3	609527	RAPGEF5, GFR, MRGEF, KIAA0277	RAP guanine nucleotide exchange factor 5	RAPGEF5	9771	ENSG00000136237			Rapgef5 (MGI:2444365)
chr7	22727200	22731998	7p21	7p15.3	147620	IL6, IFNB2, BSF2, HSF, HGF	Interleukin-6 (interferon, beta-2)	IL6	3569	ENSG00000136244		{Type 2 diabetes mellitus}, 125853 (3), Autosomal dominant; {Rheumatoid arthritis, systemic juvenile}, 604302 (3); {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3), Somatic mutation; {Type 1 diabetes mellitus}, 222100 (3), Autosomal recessive; {Kaposi sarcoma in HIV+, susceptibility to}, 148000 (3), Autosomal dominant; {Crohn disease-associated growth failure}, 266600 (3), Multifactorial	Il6 (MGI:96559)
chr7	22812974	22822849	7p15.3	7p15.3	607980	TOMM7, GMPGS	Translocase of outer mitochondrial membrane 7	TOMM7	54543	ENSG00000196683		Garg-Mishra progeroid syndrome, 620601 (3), Autosomal recessive	Tomm7 (MGI:1913419)
chr7	22895843	23014130	7p15.3	7p15.3	610531	HYCC1, FAM126A, DRCTNNB1A, HLD5	Hyccin, PI4KA lipid kinase complex, subunit 1	HYCC1	84668	ENSG00000122591		Leukodystrophy, hypomyelinating, 5, 610532 (3), Autosomal recessive	Hycc1 (MGI:2149839)
chr7	23105785	23177914	7p15.3	7p15.3	611119	KLHL7, RP42, PERCHING	Kelch-like 7	KLHL7	55975	ENSG00000122550		Retinitis pigmentosa 42, 612943 (3), Autosomal dominant; PERCHING syndrome, 617055 (3), Autosomal recessive	Klhl7 (MGI:1196453)
chr7	23182048	23201006	7p15.3	7p15.3	619998	NUP42, NLP1, UIP1	Nucleoporin 42	NUP42	11097	ENSG00000136243			Nup42 (MGI:2387631)
chr7	23246775	23275108	7p15.3	7p15.3	604368	GPNMB, PLCA3	Glycoprotein NMB	GPNMB	10457	ENSG00000136235		Amyloidosis, primary localized cutaneous, 3, 617920 (3), Autosomal recessive	Gpnmb (MGI:1934765)
chr7	23299339	23311729	7p15.3	7p15.3	614624	MALSU1, C7orf30	Mitochondrial assembly of ribosomal large subunit 1	MALSU1	115416	ENSG00000156928			Malsu1 (MGI:1922843)
chr7	23310209	23470491	7p15	7p15.3	608259	IGF2BP3, IMP3, KOC1, VICKZ3	Insulin-like growth factor 2 mRNA-binding protein 3	IGF2BP3	10643	ENSG00000136231			Igf2bp3 (MGI:1890359)
chr7	23504780	23531981	7p15.3	7p15.3	602718	TRA2A	Transformer 2 alpha homolog	TRA2A	29896	ENSG00000164548			Tra2a (MGI:1933972)
chr7	23710082	23832513	7p15.3	7p15.3	605790	STK31	Serine/threonine kinase 31	STK31	56164	ENSG00000196335			Stk31 (MGI:1924735)
chr7	24284190	24291862	7p15.1	7p15.3	162640	NPY	Neuropeptide Y	NPY	4852	ENSG00000122585			Npy (MGI:97374)
chr7	24573452	24694193	7p21-p15	7p15.3	606959	MPP6, VAM1, PALS2	Membrane protein, palmitoylated 6	PALS2	51678	ENSG00000105926			Pals2 (MGI:1927340)
chr7	24698355	24795539	7p15	7p15.3	608798	GSDME, DFNA5	Gasdermin E	GSDME	1687	ENSG00000105928		Deafness, autosomal dominant 5, 600994 (3), Autosomal dominant	Gsdme (MGI:1889850)
chr7	24796537	24981845	7p15	7p15.3	606732	OSBPL3, ORP3, KIAA0704	Oxysterol-binding protein-like protein 3	OSBPL3	26031	ENSG00000070882			Osbpl3 (MGI:1918970)
chr7	25118656	25125260	7p15.2	7p15.3	123970	CYCS, CYC, THC4	Cytochrome C, somatic	CYCS	54205	ENSG00000172115		Thrombocytopenia 4, 612004 (3), Autosomal dominant	Cycs (MGI:88578)
chr7	25125772	25180354	7p15.3	7p15.3	616071	C7orf31	Chromosome 7 open reading frame 31	SPMIP4	136895	ENSG00000153790			Spmip4 (MGI:1918071)
chr7	25224570	25228486	7p15.3	7p15.3	616984	NPVF, RFRP, C7orf9	Neuropeptide VF precursor	NPVF	64111	ENSG00000105954			Npvf (MGI:1926488)
chr7	25949919	25949986	7p15.2	7p15.2	613786	MIR148A, MIRN148A	Micro RNA 148A	MIR148A	406940	ENSG00000199085			Mir148a (MGI:2676833)
chr7	26152198	26187137	7p15-p14	7p15.2	604135	NFE2L3, NRF3	Nuclear factor erythroid 2-like 3	NFE2L3	9603	ENSG00000050344			Nfe2l3 (MGI:1339958)
chr7	26189927	26200746	7p15	7p15.2	600124	HNRNPA2B1, HNRPA2B1, IBMPFD2, OPMD2	Heterogeneous nuclear ribonucleoprotein A2/B1	HNRNPA2B1	3181	ENSG00000122566	mutation identified in 1 IBMPFD2 family	Oculopharyngeal muscular dystrophy 2, 620460 (3), Autosomal dominant; ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3), Autosomal dominant	Hnrnpa2b1 (MGI:104819)
chr7	26201443	26213607	7p15.2	7p15.2	604477	CBX3	Chromobox homolog 3	CBX3	11335	ENSG00000122565			Cbx3 (MGI:108515)
chr7	26291862	26374383	7p15.2	7p15.2	614780	SNX10, OPTB8	Sorting nexin 10	SNX10	29887	ENSG00000086300		Osteopetrosis, autosomal recessive 8, 615085 (3), Autosomal recessive	Snx10 (MGI:1919232)
chr7	26654770	26864590	7p15.2	7p15.2	605215	SKAP2, SCAP2, SKAP55R	src kinase associated phosphoprotein 2	SKAP2	8935	ENSG00000005020			Skap2 (MGI:1889206)
chr7	27092993	27096000	7p15.3	7p15.2	142955	HOXA1, HOX1F, BSAS	Homeobox A1	HOXA1	3198	ENSG00000105991		Bosley-Salih-Alorainy syndrome, 601536 (3), Autosomal recessive; Athabaskan brainstem dysgenesis syndrome, 601536 (3), Autosomal recessive	Hoxa1 (MGI:96170)
chr7	27100354	27102683	7p15-p14	7p15.2	604685	HOXA2, MCOHI	Homeobox A2	HOXA2	3199	ENSG00000105996	mutation identified in 1 MCOHICP family	Microtia with or without hearing impairment (AD), 612290 (3), Autosomal recessive, Autosomal dominant; ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3), Autosomal recessive, Autosomal dominant	Hoxa2 (MGI:96174)
chr7	27107010	27152583	7p15-p14.2	7p15.2	142954	HOXA3, HOX1E	Homeobox-A3	HOXA3	3200	ENSG00000105997	homolog of Drosophila zen1, zen2		Hoxa3 (MGI:96175)
chr7	27121919	27128760	7p15.2	7p15.2	616068	HOXAAS2	HOXA cluster antisense RNA 2	HOXA-AS2	285943				
chr7	27128525	27130757	7p15-p14.2	7p15.2	142953	HOXA4, HOX1D	Homeobox-A4	HOXA4	3201	ENSG00000197576	homolog of Drosophila Dfd		Hoxa4 (MGI:96176)
chr7	27140364	27155928	7p15.2	7p15.2	618706	HOXAAS3	HOXA cluster antisense RNA 3, noncoding	HOXA-AS3	100133311	ENSG00000254369			Hoxaas3 (MGI:1919878)
chr7	27141052	27143681	7p15-p14.2	7p15.2	142952	HOXA5, HOX1C	Homeobox A5	HOXA5	3202	ENSG00000106004			Hoxa5 (MGI:96177)
chr7	27145396	27147774	7p15-p14.2	7p15.2	142951	HOXA6, HOX1B	Homeobox A6	HOXA6	3203	ENSG00000106006			Hoxa6 (MGI:96178)
chr7	27153716	27156675	7p15-p14.2	7p15.2	142950	HOXA7, HOX1A	Homeobox A7	HOXA7	3204	ENSG00000122592	homolog of Drosophila Antp		Hoxa7 (MGI:96179)
chr7	27162438	27165537	7p15-p14.2	7p15.2	142956	HOXA9, HOX1G	Homeobox A9	HOXA9	3205	ENSG00000078399	homolog of Drosophila Abd-B; fused to NUP98 in myeloid leukemia		Hoxa9 (MGI:96180)
chr7	27169480	27169563	7p15-p14.2	7p15.2	609688	MIR196B, MIRN196B	Micro RNA 196B	MIR196B	442920	ENSG00000283745			Mir196b (MGI:3618741)
chr7	27170605	27179861	7p15-p14.2	7p15.2	142957	HOXA10, HOX1H	Homeobox A10	HOXA10	3206	ENSG00000253293			Hoxa10 (MGI:96171)
chr7	27181157	27185232	7p15-p14.2	7p15.2	142958	HOXA11, HOX1I, RUSAT1	Homeobox A11	HOXA11	3207	ENSG00000005073		Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3), Autosomal dominant	Hoxa11 (MGI:96172)
chr7	27185408	27189293	7p15.2	7p15.2	607530	HOXA11AS	Homeobox A11, antisense	HOXA11-AS	221883	ENSG00000240990			Hoxa11os (MGI:107208)
chr7	27194364	27200091	7p15-p14.2	7p15.2	142959	HOXA13, HOX1J	Homeobox A13	HOXA13	3209	ENSG00000106031	mutation identified in 1 GTMS family	Hand-foot-genital syndrome, 140000 (3), Autosomal dominant; ?Guttmacher syndrome, 176305 (3), Autosomal dominant	Hoxa13 (MGI:96173)
chr7	27200421	27207259	7p15.2	7p15.2	614060	HOTTIP, NCRNA00213	HOXA distal transcript antisense RNA	HOTTIP	100316868				Hottip (MGI:3642509)
chr7	27242802	27247830	7p15-p14	7p15.2	142996	EVX1	Even-skipped homeobox 1	EVX1	2128	ENSG00000106038	at 5' end of HOX1 cluster		Evx1 (MGI:95461)
chr7	27525442	27662883	7p15.2	7p15.2	608475	HIBADH	3-hydroxyisobutyrate dehydrogenase	HIBADH	11112	ENSG00000106049			Hibadh (MGI:1889802)
chr7	27739373	27829767	7p15	7p15.2	605326	TAX1BP1, TXBP151	TAX1-binding protein 1	TAX1BP1	8887	ENSG00000106052			Tax1bp1 (MGI:1289308)
chr7	27830577	28180795	7p15	7p15.2-p15.1	606246	JAZF1, TIP27	JAZF zinc finger 1	JAZF1	221895	ENSG00000153814	fused with JJAZ1		Jazf1 (MGI:2141450)
chr7	28299321	28825894	7p15.1-p14.3	7p15.1-p14.3	618262	CREB5, CREBPA	cAMP response element-binding protein 5	CREB5	9586	ENSG00000146592			Creb5 (MGI:2443973)
chr7	28800001	43300000	7p14		610655	HHT4	Telangiectasia, hereditary hemorrhagic, type 4		791087		between D7S2252 and D7S510	Telangiectasia, hereditary hemorrhagic, type 4, 610655 (2), Autosomal dominant	
chr7	28953358	28958330	7p14.3	7p14.3	613356	TRIL, KIAA0644	TLR4 interactor with leucine-rich repeats	TRIL	9865	ENSG00000255690			Tril (MGI:1914123)
chr7	28994636	29195451	7p15-p14	7p14.3	609780	CPVL, HVLP	Carboxypeptidase, vitellogenic-like	CPVL	54504	ENSG00000106066			Cpvl (MGI:1918537)
chr7	29146591	29514328	7p15.3	7p14.3	602857	CHN2, ARHGAP3, RHOGAP3	Chimerin 2 (GTPase-activating protein, rho, 3)	CHN2	1124	ENSG00000106069			Chn2 (MGI:1917243)
chr7	29563835	29567295	7p14.3	7p14.3	618344	PRR15	Proline-rich protein 15	PRR15	222171	ENSG00000176532			Prr15 (MGI:1925254)
chr7	29806508	29917061	7p15.1	7p14.3	612432	WIPF3, CR16	WAS/WASL-interacting protein family, member 3	WIPF3	644150	ENSG00000122574			Wipf3 (MGI:3044681)
chr7	29920103	29990289	7p14.3-p14.1	7p14.3	614965	SCRN1, SES1, KIAA0193	Secernin 1	SCRN1	9805	ENSG00000136193			Scrn1 (MGI:1917188)
chr7	30005923	30026702	7p15.1	7p14.3	614505	FKBP14, EDSKSCL2	FK506-binding protein 14	FKBP14	55033	ENSG00000106080		Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3), Autosomal recessive	Fkbp14 (MGI:2387639)
chr7	30028412	30130483	7p21-p11.2	7p14.3	608639	FAPP2	Phosphatidylinositol 4-phosphate adaptor protein 2	PLEKHA8	84725	ENSG00000106086			Plekha8 (MGI:2681164)
chr7	30134986	30162762	7p14.3	7p14.3	620491	MTURN, C7orf41	Maturin, neural protenitor differentiation regulator homolog	MTURN	222166	ENSG00000180354			Mturn (MGI:1915485)
chr7	30284597	30367689	7p15.1	7p14.3	612061	ZNRF2	Zinc finger and ring finger protein 2	ZNRF2	223082	ENSG00000180233			Znrf2 (MGI:1196246)
chr7	30424527	30478784	7p15-p14	7p14.3	605980	NOD1, CARD4	Nucleotide-binding oligomerization domain protein 1	NOD1	10392	ENSG00000106100			Nod1 (MGI:1341839)
chr7	30496621	30504829	7p15-p14	7p14.3	137170	GGCT, GCTG, C7orf24	Gamma-glutamylcyclotransferase	GGCT	79017	ENSG00000006625			Ggct (MGI:95700)
chr7	30594735	30634033	7p15	7p14.3	600287	GARS1, GARS, SMAD1, CMT2D, HMND5, SMAJI	Glycyl-tRNA synthetase 1	GARS1	2617	ENSG00000106105		Spinal muscular atrophy, infantile, James type, 619042 (3), Autosomal dominant; Neuronopathy, distal hereditary motor, autosomal dominant 5, 600794 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2D, 601472 (3), Autosomal dominant	Gars1 (MGI:2449057)
chr7	30651942	30700103	7p21-p15	7p14.3	602034	CRHR2, CRFR2	Corticotropin releasing hormone receptor-2	CRHR2	1395	ENSG00000106113			Crhr2 (MGI:894312)
chr7	30752135	30757602	7p15.3-p15.2	7p14.3	604854	INMT	Indolethylamine N-methyltransferase	INMT	11185	ENSG00000241644			Inmt (MGI:102963)
chr7	30911853	30925516	7p14	7p14.3	107776	AQP1, CHIP28, CO	Aquaporin-1 (channel-forming integral protein, 28kD)	AQP1	358	ENSG00000240583		[Aquaporin-1 deficiency], 110450 (3); [Blood group, Colton], 110450 (3)	Aqp1 (MGI:103201)
chr7	30963953	30979528	7p15-p14	7p14.3	139191	GHRHR, GHRFR, IGHD4	Growth hormone releasing hormone receptor	GHRHR	2692	ENSG00000106128		Growth hormone deficiency, isolated, type IV, 618157 (3), Autosomal recessive	Ghrhr (MGI:95710)
chr7	31052308	31111474	7p14	7p14.3	102981	ADCYAP1R1, PACAPR	ADCYAP receptor, type I	ADCYAP1R1	117	ENSG00000078549			Adcyap1r1 (MGI:108449)
chr7	31337465	31340726	7p15-p14	7p14.3	611513	NEUROD6, ATOH2, MATH2	Neurogenic differentiation 6	NEUROD6	63974	ENSG00000164600			Neurod6 (MGI:106593)
chr7	31616777	32428224	7p14.3	7p14.3	602987	PDE1C, HCAM3, DFNA74	Phosphodiesterase 1C	PDE1C	5137	ENSG00000154678	mutation identified in 1 DFNA74 family	?Deafness, autosomal dominant 74, 618140 (3), Autosomal dominant	Pde1c (MGI:108413)
chr7	31687215	31708455	7p15	7p14.3	604088	GSBS	G-substrate	PPP1R17	10842	ENSG00000106341		{Hypercholesterolemia, susceptibility to}, 143890 (3), Autosomal recessive, Autosomal dominant	Ppp1r17 (MGI:1333876)
chr7	32485338	32495283	7p14.3	7p14.3	607285	LSM5	LSM5 protein	LSM5	23658	ENSG00000106355			Lsm5 (MGI:1913623)
chr7	32495489	32588726	7p14.3	7p14.3	612927	AVL9, KIAA0241	AVL9 cell migration-associated protein	AVL9	23080	ENSG00000105778			Avl9 (MGI:1926187)
chr7	32868172	32892166	7p14.3	7p14.3	619393	KBTBD2	Kelch repeat- and BTB domain-containing protein 2	KBTBD2	25948	ENSG00000170852			Kbtbd2 (MGI:2384811)
chr7	32957440	33006928	7p12	7p14.3	616257	FKBP9, FKBP60, FKBP63	FK506-binding protein 9	FKBP9	11328	ENSG00000122642			Fkbp9 (MGI:1350921)
chr7	33014113	33062776	7p15-p14	7p14.3	606224	NT5C3A, NT5C3, UMPH1, PSN1, CNSHA8	5' nucleotidase, cytosolic IIIA (uridine 5' monophosphate hydrolase 1)	NT5C3A	51251	ENSG00000122643	pseudogenes on chr.4 and chr.7	Anemia, congenital, nonspherocytic hemolytic, 8, 266120 (3), Autosomal recessive	Nt5c3 (MGI:1927186)
chr7	33094797	33109404	7p14.2	7p14.3	607331	RP9, PAP1	RP9 pre-mRNA splicing factor	RP9	6100	ENSG00000164610	mutation identified in 1 patient	?Retinitis pigmentosa 9, 180104 (3), Autosomal dominant	Rp9 (MGI:2157166)
chr7	33129285	33635767	7p14	7p14.3	607968	PTHB1, BBS9	Parathyroid hormone-responsive B1 gene	BBS9	27241	ENSG00000122507		Bardet-Biedl syndrome 9, 615986 (3), Autosomal recessive	Bbs9 (MGI:2442833)
chr7	33904915	34156427	7p14.3	7p14.3	608699	BMPER, CV2	BMP binding endothelial regulator	BMPER	168667	ENSG00000164619		Diaphanospondylodysostosis, 608022 (3), Autosomal recessive	Bmper (MGI:1920480)
chr7	34346512	34834331	7p15-p14	7p14.3	608596	NPSRAS1, AAA1	NPSR1 antisenase RNA 1	NPSR1-AS1	404744	ENSG00000197085			
chr7	34658218	34878332	7p15-p14	7p14.3	608595	NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2	Neuropeptide S receptor 1	NPSR1	387129	ENSG00000187258		{Asthma, susceptibility to, 2}, 608584 (3)	Npsr1 (MGI:2441738)
chr7	34928881	35038041	7p14.3	7p14.2	613892	DPY19L1, KIAA0877	DPY19-like 1	DPY19L1	23333	ENSG00000173852			Dpy19l1 (MGI:1915685)
chr7	35202430	35254100	7p15-p14	7p14.2	606061	TBX20, ASD4	T-box 20	TBX20	57057	ENSG00000164532		Atrial septal defect 4, 611363 (3)	Tbx20 (MGI:1888496)
chr7	35632659	35695135	7p14.2	7p14.2	620829	HERPUD2	HERPUD family member 2	HERPUD2	64224	ENSG00000122557			Herpud2 (MGI:1915393)
chr7	35800986	35915763	7p14	7p14.2	603151	SEPT7, CDC10	Septin 7	SEPTIN7	989	ENSG00000122545			Septin7 (MGI:1335094)
chr7	36153254	36301538	7p14.2	7p14.2	617192	EEPD1, KIAA1706	Endonuclease/exonuclease/phosphatase family domain-containing protein 1	EEPD1	80820	ENSG00000122547			Eepd1 (MGI:1914734)
chr7	36324152	36390357	7p14.2	7p14.2	619896	MATCAP2, KIAA0895	Microtubule-associated tyrosine carboxypeptidase 2	MATCAP2	23366	ENSG00000164542			Matcap2 (MGI:1915533)
chr7	36389862	36453791	7p14.2	7p14.2	616027	ANLN, FSFS8	Actin-binding protein anillin	ANLN	54443	ENSG00000011426		Focal segmental glomerulosclerosis 8, 616032 (3), Autosomal dominant	Anln (MGI:1920174)
chr7	36512941	36724494	7p14-p12	7p14.2	102593	AOAH	Acyloxyacyl hydrolase (neutrophil)	AOAH	313	ENSG00000136250			Aoah (MGI:1350928)
chr7	36852906	37449326	7p14	7p14.2-p14.1	606420	ELMO1, CED12	Engulfment and cell motility gene 1	ELMO1	9844	ENSG00000155849			Elmo1 (MGI:2153044)
chr7	37100001	43300000	7p14.1		615455	TRGJ@	T-cell receptor gamma chain joining gene cluster						
chr7	37100001	43300000	7p14.1		615454	TRGV@	T-cell receptor gamma chain variable gene cluster						
chr7	37683766	37743835	7p14.1	7p14.1	609045	GPR141, PGR13	G protein -coupled receptor 141	GPR141	353345	ENSG00000187037			Gpr141 (MGI:2672983)
chr7	37848597	37900397	7p14.1	7p14.1	607421	NME8, TXNDC3, SPTRX2, CILD6	NME/NM23 family member 8	NME8	51314	ENSG00000086288	mutation identified in 1 CILD6 patient	?Ciliary dyskinesia, primary, 6, 610852 (3), Autosomal recessive	Nme8 (MGI:1920662)
chr7	37905932	37916817	7p14.1	7p14.1	606570	SFRP4, FRPHE, PYL	Secreted frizzled-related protein 4	SFRP4	6424	ENSG00000106483		Pyle disease, 265900 (3), Autosomal recessive	Sfrp4 (MGI:892010)
chr7	37920640	37951936	7p14.1	7p14.1	619734	EPDR1, UCC1, MERP1	Ependymin-related protein 1	EPDR1	54749	ENSG00000086289			Epdr1 (MGI:2145369)
chr7	38178245	38230669	7p14-p13	7p14.1	611759	STARD3NL, MENTHO	STARD3 N-terminal like	STARD3NL	83930	ENSG00000010270			Stard3nl (MGI:1923455)
chr7	38240024	38249572	7p14.1	7p14.1	615450	TRGC2	T-cell receptor gamma chain constant region 2		6967	ENSG00000227191			Trgc1,Trgc2,Trgc3 (MGI:98625,MGI:98626,MGI:98627)
chr7	38259643	38273636	7p15-p14	7p14.1	609642	TARP	T-cell antigen receptor, gamma subunit, alternate reading frame protein		445347	ENSG00000289746			
chr7	38260088	38265678	7p14.1	7p14.1	186970	TRGC1	T-cell receptor gamma chain constant region 1		6966	ENSG00000211689			Trgc1,Trgc2,Trgc3,Trgc4 (MGI:98625,MGI:98626,MGI:98627,MGI:98628)
chr7	38383704	38631373	7p14-p13	7p14.1	600418	AMPH	Amphiphysin	AMPH	273	ENSG00000078053			Amph (MGI:103574)
chr7	38722974	38909191	7p14.1	7p14.1	605485	VPS41, SCAR29	VPS41 subunit of HOPS complex	VPS41	27072	ENSG00000006715		Spinocerebellar ataxia, autosomal recessive 29, 619389 (3), Autosomal recessive	Vps41 (MGI:1929215)
chr7	38977909	39468601	7p14-p13	7p14.1	609062	POU6F2, WTSL, WT5	POU domain, class 6, transcription factor 2	POU6F2	11281	ENSG00000106536		{Wilms tumor susceptibility-5}, 601583 (3), Somatic mutation, Autosomal dominant	Pou6f2 (MGI:2443631)
chr7	39623572	39708120	7p22-p15	7p14.1	179550	RALA, HINCONS	RAS-like protooncogene A	RALA	5898	ENSG00000006451		Hiatt-Neu-Cooper neurodevelopmental syndrome, 619311 (3), Autosomal dominant	Rala (MGI:1927243)
chr7	39950256	40099580	7p14.1	7p14.1	603309	CDK13, CDC2L5, CHED, CHDFIDD	Cyclin-dependent kinase 13	CDK13	8621	ENSG00000065883		Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3), Autosomal dominant	Cdk13 (MGI:1916812)
chr7	40126027	40134622	7p14	7p14.1	609188	MPLKIP, C7orf11, ABHS, TTDN1, TTD4	M-phase specific PLK1 interacting protein	MPLKIP	136647	ENSG00000168303		Trichothiodystrophy 4, nonphotosensitive, 234050 (3), Autosomal recessive	Mplkip,Mplkipl1 (MGI:1913558,MGI:3648735)
chr7	40135005	41038816	7p14	7p14.1	609187	SUGCT, C7orf10, GA3	Succinyl-CoA:glutarate-CoA transferase	SUGCT	79783	ENSG00000175600		Glutaric aciduria III, 231690 (3), Autosomal recessive	Sugct (MGI:1923221)
chr7	41685114	41705406	7p15-p13	7p14.1	147290	INHBA	Inhibin, beta-1	INHBA	3624	ENSG00000122641			Inhba (MGI:96570)
chr7	41960949	42264268	7p13	7p14.1	165240	GLI3, PAPA, PAPB	GLI-Kruppel family member GLI3 (oncogene GLI3)	GLI3	2737	ENSG00000106571	amplified in glioblastoma	Greig cephalopolysyndactyly syndrome, 175700 (3), Autosomal dominant; Polydactyly, postaxial, types A1 and B, 174200 (3), Autosomal dominant; Pallister-Hall syndrome, 146510 (3), Autosomal dominant; Polydactyly, preaxial, type IV, 174700 (3), Autosomal dominant	Gli3 (MGI:95729)
chr7	42916861	42932174	7p13	7p14.1	176842	PSMA2, PSC2, HC3	Proteasome (prosome, macropain) subunit, alpha type, 2	PSMA2	5683	ENSG00000106588	incorrectly assigned to 6q		Psma2 (MGI:104885)
chr7	42932376	42937857	7p14	7p14.1	611839	MRPL32	Mitochondrial ribosomal protein L32	MRPL32	64983	ENSG00000106591			Mrpl32 (MGI:2137226)
chr7	43112647	43566001	7p13	7p14.1-p13	610384	HECW1, NEDL1, KIAA0322	HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1	HECW1	23072	ENSG00000002746			Hecw1 (MGI:2444115)
chr7	43300001	45400000	7p13		619520	SLERT	Box H/ACA small nucleolar RNA-ended long noncoding RNA that enhances pre-rRNA transcription						
chr7	43300001	132900000	7p13-q32		618905	SRS2	Silver-Russell syndrome				maternal uniparental disomy of chromosome 7; 7p13-p11.2 and 7q32 have been implicated	Silver-Russell syndrome 2, 618905 (4), Autosomal dominant	
chr7	43508728	43522542	7p13	7p13	618172	LUARIS, lncRNA32	Long noncoding RNA upregulator of antiviral response interferon signaling	LUARIS	100506895	ENSG00000231638	overlaps in antisense orientation with HECW1 gene		
chr7	43583108	43627379	7p13	7p13	604726	STK17A, DRAK1	Serine/threonine protein kinase 17A	STK17A	9263	ENSG00000164543			
chr7	43608457	43729523	7p13	7p13	614769	COA1, C7orf44	Cytochrome c oxidase assembly factor 1 homolog	COA1	55744	ENSG00000106603			
chr7	43758122	43807342	7p13	7p13	109750	BLVRA	Biliverdin reductase A	BLVRA	644	ENSG00000106605		Hyperbiliverdinemia, 614156 (3), Autosomal recessive, Autosomal dominant	Blvra (MGI:88170)
chr7	43866558	43869517	7p14	7p13	611986	MRPS24	Mitochondrial ribosomal protein S24	MRPS24	64951	ENSG00000062582			Mrps24 (MGI:1928142)
chr7	43875913	43926726	7p13	7p13	610337	URGCP, URG4	Upregulator of cell proliferation	URGCP	55665	ENSG00000106608			Urgcp (MGI:1919296)
chr7	43997897	44010124	7p13	7p13	617623	SPDYE1, SPDYB2L2, RINGO1	Speedy/RINGO cell cycle regulator family, member E1	SPDYE1	285955	ENSG00000136206			Spdye4a,Spdye4b (MGI:1921923,MGI:3612701)
chr7	44044702	44069456	7p13	7p13	610106	DBNL, HIP55	Drebrin-like	DBNL	28988	ENSG00000136279			Dbnl (MGI:700006)
chr7	44062727	44065567	7p13-p12.3	7p13	612931	PGAM2, PGAMM, GSD10	Phosphoglycerate mutase, muscle form	PGAM2	5224	ENSG00000164708		Glycogen storage disease X, 261670 (3), Autosomal recessive	Pgam2 (MGI:1933118)
chr7	44072062	44082530	7p13	7p13	606344	POLM	Polymerase, DNA, mu	POLM	27434	ENSG00000122678			Polm (MGI:1860191)
chr7	44104345	44114560	7p13	7p13	602981	AEBP1, ACLP	AE-binding protein 1	AEBP1	165	ENSG00000106624		Ehlers-Danlos syndrome, classic-like, 2, 618000 (3), Autosomal recessive	Aebp1 (MGI:1197012)
chr7	44114680	44124325	7p13	7p13	600815	POLD2	Polymerase (DNA directed), delta 2, regulatory subunit, 50kD	POLD2	5425	ENSG00000106628			Pold2 (MGI:1097163)
chr7	44138864	44141332	7p13	7p13	613993	MYL7, MYL2A, MLC2A, MYLC2A	Myosin, light chain 7, regulatory	MYL7	58498	ENSG00000106631			Myl7 (MGI:107495)
chr7	44143213	44189439	7p15-p13	7p13	138079	GCK, HHF3, PNDM1	Glucokinase (hexokinase-4)	GCK	2645	ENSG00000106633	proximal to TCRB	MODY, type II, 125851 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 1, 606176 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3), Autosomal dominant; Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3), Autosomal dominant	Gck (MGI:1270854)
chr7	44200978	44214294	7p13	7p13	606209	YKT6	YKT6 v-SNARE homolog	YKT6	10652	ENSG00000106636			Ykt6 (MGI:1927550)
chr7	44217154	44326013	7p14	7p13	607707	CAMK2B, MRD54	Calcium/calmodulin-dependent protein kinase II-beta	CAMK2B	816	ENSG00000058404		Intellectual developmental disorder, autosomal dominant 54, 617799 (3), Autosomal dominant	Camk2b (MGI:88257)
chr7	44379119	44490658	7p13	7p13	610296	NUDCD3, KIAA1068, NUDCL	NUDC domain-containing protein 3	NUDCD3	23386	ENSG00000015676			Nudcd3 (MGI:2144158)
chr7	44512535	44541330	7p13	7p13	608010	NPC1L1, LDLCQ7	NPC1-like intracellular cholesterol transporter 1	NPC1L1	29881	ENSG00000015520		[Ezetimibe, nonresponse to], 617966 (3); [Low density lipoprotein cholesterol level QTL 7], 617966 (3)	Npc1l1 (MGI:2685089)
chr7	44565804	44573908	7p13	7p13	608023	DDX56, NOH61	DEAD-box helicase 56	DDX56	54606	ENSG00000136271			Ddx56 (MGI:1277172)
chr7	44577894	44582231	7p22.2	7p13	612038	TMED4	Transmembrane p24 trafficking protein 4	TMED4	222068	ENSG00000158604			Tmed4 (MGI:1915070)
chr7	44606627	44709066	7p14-p13	7p13	613022	OGDH, OGDHD	Oxoglutarate dehydrogenase, lipoamide (alpha-ketoglutarate dehydrogenase)	OGDH	4967	ENSG00000105953		Oxoglutarate dehydrogenase deficiency, 203740 (3), Autosomal recessive	Ogdh (MGI:1098267)
chr7	44748571	44769881	7p13	7p13	611196	ZMIZ2, KIAA1886, ZIMP7	Zinc finger MIZ-domain containing 2	ZMIZ2	83637	ENSG00000122515			Zmiz2 (MGI:106374)
chr7	44796681	44803117	7p13	7p13	123840	PPIA	Peptidylprolyl isomerase A (cyclophilin A)	PPIA	5478	ENSG00000196262			Ppia (MGI:97749)
chr7	44826889	44848126	7p13	7p13	620008	H2AZ2, H2AV, H2AFV	H2A.Z variant histone 2	H2AZ2	94239	ENSG00000105968			H2az2 (MGI:1924855)
chr7	44876299	44885530	7p13	7p13	608887	PURB	Purine-rich element-binding protein B	PURB	5814	ENSG00000146676			Purb (MGI:1338779)
chr7	44962662	44979015	7p13	7p13	600642	MYO1G, HA2, HLA-HA2	Myosin IG	MYO1G	64005	ENSG00000136286			Myo1g (MGI:1927091)
chr7	44999746	45076470	7p13	7p13	607929	CCM2, C7orf22, MGC4067	CCM2 scaffold protein	CCM2	83605	ENSG00000136280		Cerebral cavernous malformations-2, 603284 (3), Autosomal dominant	Ccm2 (MGI:2384924)
chr7	45080437	45088969	7p13	7p13	619419	NACAD, KIAA0363	NAC-alpha domain-containing protein	NACAD	23148	ENSG00000136274			Nacad (MGI:3603030)
chr7	45100100	45111697	7p13	7p13	611325	TBRG4, KIAA0948, CPR2	Transforming growth factor-beta regulator 4	TBRG4	9238	ENSG00000136270			Tbrg4 (MGI:1100868)
chr7	45104906	45105042	7p13	7p13	611335	SNORA5C	Small nucleolar RNA, H/ACA box, 5C	SNORA5C	677796	ENSG00000201772	in intron 3 of TBRG4		
chr7	45157791	45184250	7p13-p12	7p13	605155	RAMP3	Receptor activity-modifying protein 3	RAMP3	10268	ENSG00000122679			Ramp3 (MGI:1860292)
chr7	45400001	60100001	7p12-cen		147830	TTIM1	T-cell tumor invasion and metastasis-1 (invasion-metastasis of neoplasms, chromosome 7 determined)						
chr7	45574140	45723116	7p13-p12	7p12.3	103072	ADCY1, DFNB44	Adenylate cyclase-1, brain	ADCY1	107	ENSG00000164742	mutation identified in 1 DFNB44 family	?Deafness, autosomal recessive 44, 610154 (3), Autosomal recessive	Adcy1 (MGI:99677)
chr7	45723787	45769018	7p13	7p12.3	611563	SEPT13	Septin 13	SEPTIN7P2	641977	ENSG00000291207			
chr7	45888488	45893660	7p14-p12	7p12.3	146730	IGFBP1	Insulin-like growth factor-binding protein-1	IGFBP1	3484	ENSG00000146678			Igfbp1 (MGI:96436)
chr7	45912245	45921272	7p14-p12	7p12.3	146732	IGFBP3	Insulin-like growth factor-binding protein-3	IGFBP3	3486	ENSG00000146674	tail-to-tail 20kb from IGFBP1		Igfbp3 (MGI:96438)
chr7	47275154	47582586	7p12.3	7p12.3	606825	TNS3, TEM6	Tensin 3	TNS3	64759	ENSG00000136205			Tns3 (MGI:2443012)
chr7	47774614	47960906	7p13-p12	7p12.3	609721	PKD1L1, HTX8	Polycystin 1L1	PKD1L1	168507	ENSG00000158683		Heterotaxy, visceral, 8, autosomal, 617205 (3), Autosomal recessive	Pkd1l1 (MGI:2156538)
chr7	47963288	47979615	7p13-p12	7p12.3	603760	HUS1	HUS1 checkpoint clamp component	HUS1	3364	ENSG00000136273			Hus1 (MGI:1277962)
chr7	47987148	48035902	7p12.3	7p12.3	618984	SUN3, SUNC1	SAD1 and UNC84 domain-containing protein 3	SUN3	256979	ENSG00000164744			Sun3 (MGI:3041199)
chr7	48088704	48108736	7p12.3	7p12.3	191730	UPP1, UP	Uridine phosphorylase 1	UPP1	7378	ENSG00000183696			Upp1 (MGI:1097668)
chr7	48171458	48647497	7p12.3	7p12.3	607807	ABCA13	ATP-binding cassette, subfamily A, member 13	ABCA13	154664	ENSG00000179869			Abca13 (MGI:2388707)
chr7	49000001	50500000	7p12.2		613067	ALL2	Leukemia, acute lymphoblastic, susceptibility to, 2		100310786		associated with rs11978267	{Leukemia, acute lymphoblastic, susceptibility to, 2}, 613067 (2)	
chr7	49773638	49922205	7p12.2	7p12.2	611108	VWC2, BRORIN	von Willebrand factor C domain-containing protein 2	VWC2	375567	ENSG00000188730			Vwc2 (MGI:2442987)
chr7	49840654	50093246	7p12.2	7p12.2	608498	ZPBP, SP38, SPGF66	Zona pellucida-binding protein	ZPBP	11055	ENSG00000042813	mutation identified in 1 SPGF66 patient	?Spermatogenic failure 66, 619799 (3), Autosomal recessive	Zpbp (MGI:1855701)
chr7	50303455	50405101	7p12	7p12.2	603023	IKZF1, ZNFN1A1, IK1, LYF1, CVID13	Ikaros family zinc finger 1	IKZF1	10320	ENSG00000185811	fused with BCL6 in DLBL	Immunodeficiency, common variable, 13, 616873 (3), Autosomal dominant	Ikzf1 (MGI:1342540)
chr7	50444133	50450350	7p12.1	7p12.2	615383	FIGNL1	Fidgetin-like protein 1	FIGNL1	63979	ENSG00000132436			Fignl1 (MGI:1890648)
chr7	50458442	50565405	7p11	7p12.2-p12.1	107930	DDC	DOPA decarboxylase (aromatic L-amino acid decarboxylase)	DDC	1644	ENSG00000132437		Aromatic L-amino acid decarboxylase deficiency, 608643 (3), Autosomal recessive	Ddc (MGI:94876)
chr7	50500001	98400000	7p12.1-q21		614676	CMH21	Cardiomyopathy, familial hypertrophic, 21		100909387		max lod at D7S669	Cardiomyopathy, hypertrophic, 21, 614676 (2), Autosomal dominant	
chr7	50590068	50793453	7p12-p11.2	7p12.1	601523	GRB10, RSS	Growth factor receptor-bound protein-10	GRB10	2887	ENSG00000106070			Grb10 (MGI:103232)
chr7	51016212	51316809	7p12	7p12.1	610317	COBL, KIAA0633	Cordon-bleu, mouse, homolog of	COBL	23242	ENSG00000106078			Cobl (MGI:105056)
chr7	53900001	98400000	7p11-q21		608658	HPC4	Prostate cancer, hereditary, 4		408260			{Prostate cancer, susceptibility to, 4}, 608658 (2)	
chr7	53900001	58100000	7p11.2		608345	NYS3	Nystagmus 3, congenital, autosomal dominant		4934		translocation t(7;15)(p11.2;q11.2)	Nystagmus 3, congenital, autosomal dominant, 608345 (2), Autosomal dominant	
chr7	54752253	54759211	7p11.2	7p11.2	609215	SEC61G	SEC61 translocon, gamma subunit	SEC61G	23480	ENSG00000132432			Sec61g,Sec61g-ps1,Sec61g-ps2,Sec61g-ps3 (MGI:1202066,MGI:3649592,MGI:3651892,MGI:3782360)
chr7	55019017	55211628	7p12.3-p12.1	7p11.2	131550	EGFR, NNCIS	Epidermal growth factor receptor	EGFR	1956	ENSG00000146648	same as oncogene ERBB	Neonatal nephrocutaneous inflammatory syndrome, 616069 (3), Autosomal recessive; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3), Somatic mutation, Autosomal dominant; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3), Somatic mutation, Autosomal dominant; {Nonsmall cell lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant	Egfr (MGI:95294)
chr7	55238436	55255635	7p11.2	7p11.2	618217	ELDR, LINC01156, FABL	EGFR long noncoding downstream RNA	ELDR	102725541				Eldr (MGI:1919985)
chr7	55365337	55433737	7p11.2	7p11.2	612919	LANCL2, TASP	LanC-like 2	LANCL2	55915	ENSG00000132434			Lancl2 (MGI:1919085)
chr7	55434964	55572502	7p11.2	7p11.2	611915	VOPP1, ECOP, GASP	Vesicular, overexpressed in cancer, prosurvival protein 1	VOPP1	81552	ENSG00000154978			Vopp1 (MGI:2141658)
chr7	55764797	55773683	7q11.2	7p11.2	604239	PSPHP1, PSPHL, CO9	Phosphoserine phosphatase pseudogene 1	PSPHP1	8781	ENSG00000226278			
chr7	55793540	55862752	7p11.2	7p11.2	612140	SEPT14	Septin 14	SEPTIN14	346288	ENSG00000154997			Septin14 (MGI:1921472)
chr7	55887456	55942225	7p11.2	7p11.2	616181	ZNF713	Zinc finger protein 713	ZNF713	349075	ENSG00000178665			
chr7	55951877	55956500	7p11-q11.21	7p11.2	611980	MRPS17	Mitochondrial ribosomal protein S17	MRPS17	51373	ENSG00000239789	9 pseudogenes		Mrps17 (MGI:1913508)
chr7	55964585	56000179	7p11.2	7p11.2	603004	NIPSNAP2, GBAS	Nipsnap homolog 2	NIPSNAP2	2631	ENSG00000146729			Nipsnap2 (MGI:1278343)
chr7	56011064	56051444	7p11.2	7p11.2	172480	PSPH, PSP, PSPHD	Phosphoserine phosphatase	PSPH	5723	ENSG00000146733		Phosphoserine phosphatase deficiency, 614023 (3), Autosomal recessive	Psph (MGI:97788)
chr7	56051765	56063989	7p11.2	7p11.2	104613	CCT6A, CCT6, HTR3, TCP20	Chaperonin containing T-complex polypeptide 1, subunit 6A	CCT6A	908	ENSG00000146731			Cct6a (MGI:107943)
chr7	56064286	56087946	7p11.2	7p11.2	607940	SUMF2	Sulfatase-modifying factor 2	SUMF2	25870	ENSG00000129103			Sumf2 (MGI:1915152)
chr7	56080295	56092952	7p12-q21	7p11.2	172470	PHKG1	Phosphorylase kinase, gamma 1, muscle	PHKG1	5260	ENSG00000164776	presumed pseudogene on 11		Phkg1 (MGI:97579)
chr7	56101573	56106476	7p11.2	7p11.2	616244	CHCHD2, PARK22	Coiled-coil-helix-coiled-coil-helix domain-containing protein 2	CHCHD2	51142	ENSG00000106153		Parkinson disease 22, autosomal dominant, 616710 (3), Autosomal dominant	Chchd2,Chchd2-ps (MGI:1261428,MGI:3649942)
chr7	57117676	57139864	7p11.2	7p11.2	617444	ZNF479, KR19	Zinc finger protein 479	ZNF479	90827	ENSG00000185177			
chr7	60100001	159345973	7q		145290	HRX	Hyperreflexia		7974		linked to KEL		
chr7	62100001	77900000	7q11.2		105800	ANIB1	Aneurysm, intracranial berry, 1		116833		in or near ELN	Aneurysm, intracranial berry, 1, 105800 (2), Autosomal dominant	
chr7	62100001	98400000	7q11.2-q21.3		129900	EEC1	Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1		1913			?EEC syndrome-1, 129900 (2), Autosomal dominant	
chr7	62100001	77900000	7q11.2		610247	EOE1, EE	Esophagitis, eosinophilic, 1		100302511		associated with rs2302009	{Esophagitis, eosinophilic, 1}, 610247 (2), Multifactorial	
chr7	64666133	64711577	7q11.2	7q11.21	603989	ZNF107	Zinc finger protein-107	ZNF107	51427	ENSG00000196247			Zfp729a (MGI:3036250)
chr7	64794428	64860823	7q11.21-q11.23	7q11.21	604080	ZNF138	Zinc finger protein-138	ZNF138	7697	ENSG00000197008			
chr7	64877603	64937316	7q11.21	7q11.21	604756	ZNF273, HZF9	Zinc finger protein 273	ZNF273	10793	ENSG00000198039			
chr7	64971772	64991036	7q11.2	7q11.21	194624	ZNF117	Zinc finger protein-117	ZNF117	51351	ENSG00000152926			Gm10778,Gm14444,Gm4767,Zfp1006,Zfp930,Zfp936,Zfp937,Zfp958,Zfp998 (MGI:1919389,MGI:1924053,MGI:2385298,MGI:2675306,MGI:3642994,MGI:3644409,MGI:3644476,MGI:3652325,MGI:3809656)
chr7	64990356	65006687	7q11.2	7q11.21	131170	ERV3	Endogenous retroviral sequence-3 (includes zinc finger protein H-plk)	ERV3-1	2086	ENSG00000213462			
chr7	65373855	65401136	7q11.21	7q11.21	603974	ZNF92	Zinc finger protein-92	ZNF92	168374	ENSG00000146757	sequence aligns with sequence on 19p13.1-p12		
chr7	65865772	65959558	7q11.21	7q11.21	608838	VKORC1L1	Vitamin K epoxide reductase complex, subunit 1-like 1	VKORC1L1	154807	ENSG00000196715			Vkorc1l1 (MGI:1916818)
chr7	65960684	65982213	7q21.11	7q11.21	611499	GUSB, MPS7	Glucuronidase, beta-	GUSB	2990	ENSG00000169919		Mucopolysaccharidosis VII, 253220 (3), Autosomal recessive	Gusb (MGI:95872)
chr7	66075819	66093576	7cen-q11.2	7q11.21	608310	ASL	Argininosuccinate lyase	ASL	435	ENSG00000126522		Argininosuccinic aciduria, 207900 (3), Autosomal recessive	Asl (MGI:88084)
chr7	66114818	66154568	7q11.21	7q11.21	606121	CRCP, CGRPRCP, RCP	CGRP receptor component	CRCP	27297	ENSG00000241258			Crcp (MGI:1100818)
chr7	66198790	66360443	7q11.21	7q11.21	603125	TPST1	Tyrosylprotein sulfotransferase 1	TPST1	8460	ENSG00000169902			Tpst1 (MGI:1298231)
chr7	66628881	66643229	7q11.21	7q11.21	611725	KCTD7, EPM3, CLN14	Potassium channel tetramerization domain containing 7	KCTD7	154881	ENSG00000243335		Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3), Autosomal recessive	Kctd7 (MGI:2442265)
chr7	66654567	66811464	7q11.21	7q11.21	609700	RABGEF1, RABEX5	RAB guanine nucleotide exchange factor 1	RABGEF1	27342	ENSG00000154710			Rabgef1 (MGI:1929459)
chr7	66987680	66995586	7q11	7q11.21	607444	SBDS, SDS	SBDS ribosome maturation factor	SBDS	51119	ENSG00000126524		{Aplastic anemia, susceptibility to}, 609135 (3); Shwachman-Diamond syndrome 1, 260400 (3), Autosomal recessive	Sbds (MGI:1913961)
chr7	66996833	67239514	7q11.21	7q11.21	611243	TYW1	tRNA yW-synthesizing protein 1 homolog	TYW1	55253	ENSG00000198874			Tyw1 (MGI:2141161)
chr7	69598475	70793506	7q11.2	7q11.22	607270	AUTS2, KIAA0442, MRD26	Activator of transcription and developmental regulator	AUTS2	26053	ENSG00000158321	translocation break at 7q11.2	Intellectual developmental disorder, autosomal dominant 26, 615834 (3), Autosomal dominant	Auts2 (MGI:1919847)
chr7	71132144	71713599	7q11.22	7q11.22	615137	GALNACT17, GALNTL3, WBSCR17	Polypeptide N-acetylgalactosaminyltransferase 17	GALNT17	64409	ENSG00000185274			Galnt17 (MGI:2137594)
chr7	71779491	72504279	7q11.22	7q11.22	607176	CALN1	Calneuron 1	CALN1	83698	ENSG00000183166			Caln1 (MGI:2155987)
chr7	72700001	77900000	7q11.23		613729	DEL7q11.23, C7DELq11.23	Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb				contiguous gene deletion syndrome	Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb, 613729 (4)	
chr7	72700001	77900000	7q11.23		609757	DUP7q11.23, C7DUPq11.23	Chromosome 7q11.23 duplication syndrome					Chromosome 7q11.23 duplication syndrome, 609757 (4), Autosomal dominant	
chr7	72700001	77900000	7q11.23		194050	WBS, WMS, WS, DEL7q11, C7DELq11	Williams-Beuren syndrome (chromosome 7q11.23 deletion syndrome)				contiguous gene syndrome	Williams-Beuren syndrome, 194050 (4), Autosomal dominant	
chr7	72879357	72951459	7q11.23	7q11.23	615753	POM121, POM121A, KIAA0618	POM121 transmembrane nucleoporin	POM121	9883	ENSG00000196313			Pom121 (MGI:2137624)
chr7	72954868	72969681	7q11.23	7q11.23	612550	TRIM74, TRIM50C	Tripartite motif-containing protein 74	TRIM74	378108	ENSG00000155428			Trim50 (MGI:2664992)
chr7	73302516	73308826	7q11.23	7q11.23	615732	NSUN5, WBSCR20, WBSCR20A	NOP2/SUN RNA methyltransferase family, member 5	NSUN5	55695	ENSG00000130305			Nsun5 (MGI:2140844)
chr7	73312536	73328082	7q11.23	7q11.23	612548	TRIM50, TRIM50A	Tripartite motif-containing protein 50	TRIM50	135892	ENSG00000146755			Trim50 (MGI:2664992)
chr7	73328161	73358625	7q11.23	7q11.23	604839	FKBP6, SPGF77	FK506-binding protein 6	FKBP6	8468	ENSG00000077800		Spermatogenic failure 77, 620103 (3), Autosomal recessive	Fkbp6 (MGI:2137612)
chr7	73433778	73436120	7q11.23	7q11.23	601766	FZD9, FZD3	Frizzled class receptor 9	FZD9	8326	ENSG00000188763			Fzd9 (MGI:1313278)
chr7	73440406	73522293	7q11-q21	7q11.23	605681	BAZ1B, WSTF, WBSCR9	Bromodomain adjacent to zinc finger domain, 1B	BAZ1B	9031	ENSG00000009954			Baz1b (MGI:1353499)
chr7	73536356	73557690	7q11.23	7q11.23	605846	BCL7B	BAF chromatin remodeling complex subunit BCL7B	BCL7B	9275	ENSG00000106635			Bcl7b (MGI:1332238)
chr7	73567537	73578579	7q11.23	7q11.23	605842	TBL2	Transducin-beta-like 2	TBL2	26608	ENSG00000106638			Tbl2 (MGI:1351652)
chr7	73593202	73647907	7q11.23	7q11.23	605678	MLXIPL, WBSCR14, MONDOB, CHREBP	MLX interacting protein-like	MLXIPL	51085	ENSG00000009950			Mlxipl (MGI:1927999)
chr7	73665347	73672110	7q11.23	7q11.23	610039	VPS37D, WBSCR24	VPS37D subunit of ESCRT-I	VPS37D	155382	ENSG00000176428			Vps37d (MGI:2159402)
chr7	73680918	73683453	7q11.23	7q11.23	618202	DNAJC30, WBSCR18, LHONAR1, MC1DN38	DNAJ/HSP40 homolog, subfamily C, member 30	DNAJC30	84277	ENSG00000176410		Leber-like hereditary optic neuropathy, autosomal recessive 1, 619382 (3), Autosomal recessive	Dnajc30 (MGI:1913364)
chr7	73683597	73698212	7q11.23	7q11.23	615733	BUD23, WBSCR22, MERM1	rRNA methyltransferase and ribosome maturation factor Bud23	BUD23	114049	ENSG00000071462			Bud23 (MGI:1913388)
chr7	73699210	73719669	7q11.2	7q11.23	186590	STX1A, STX1	Syntaxin 1A, brain	STX1A	6804	ENSG00000106089			Stx1a (MGI:109355)
chr7	73735069	73736000	7q11.23	7q11.23	612545	WBSCR26	Williams-Beuren syndrome chromosome region 26	BICDL3P	171022				
chr7	73736094	73738802	7q11.23	7q11.23	621050	ABHD11	Abhydrolase domain-containing protein 11	ABHD11	83451	ENSG00000106077			Abhd11 (MGI:1916008)
chr7	73768997	73770270	7q11	7q11.23	602910	CLDN3, CPETR2	Claudin-3 (Clostridium perfringens enterotoxin receptor 2)	CLDN3	1365	ENSG00000165215			Cldn3 (MGI:1329044)
chr7	73830996	73832690	7q11.23	7q11.23	602909	CLDN4, CPETR1, CPER	Claudin 4	CLDN4	1364	ENSG00000189143			Cldn13,Cldn4 (MGI:1313314,MGI:1913102)
chr7	73834590	73842516	7q11.23	7q11.23	612546	WBSCR27	Williams-Beuren syndrome chromosome region 27	METTL27	155368	ENSG00000165171			Mettl27 (MGI:1933146)
chr7	73860848	73865890	7q11.23	7q11.23	612547	WBSCR28	Williams-Beuren syndrome chromosome region 28	TMEM270	135886	ENSG00000175877			Tmem270 (MGI:1923879)
chr7	74028173	74069907	7q11.2	7q11.23	130160	ELN, SVAS, ADCL1	Elastin	ELN	2006	ENSG00000049540		Cutis laxa, autosomal dominant, 123700 (3), Autosomal dominant; Supravalvar aortic stenosis, 185500 (3), Autosomal dominant	Eln (MGI:95317)
chr7	74083804	74122525	7q11.23	7q11.23	601329	LIMK1	LIM domain kinase 1	LIMK1	3984	ENSG00000106683			Limk1 (MGI:104572)
chr7	74174356	74197096	7q11.23	7q11.23	603431	EIF4H, WBSCR1, WSCR1	Eukaryotic translation initiation factor 4H	EIF4H	7458	ENSG00000106682			Eif4h (MGI:1341822)
chr7	74191198	74191294	7q11.23	7q11.23	615070	MIR590	Micro RNA 590	MIR590	693175	ENSG00000207741			Mir590 (MGI:3718552)
chr7	74210006	74229834	7q11.23	7q11.23	605719	LAT2, WBSCR5, LAB, NTAL	Linker for activation of T cells family, member 2	LAT2	7462	ENSG00000086730			Lat2 (MGI:1926479)
chr7	74231502	74254399	7q11.23	7q11.23	600404	RFC2	Replication factor C2, 40kD (activator 1, 40kD)	RFC2	5982	ENSG00000049541			Rfc2 (MGI:1341868)
chr7	74289407	74405935	7q11.23	7q11.23	603432	CLIP2, CYLN2, WBSCR4, WSCR4	CAP-GLY domain-containing linker protein 2	CLIP2	7461	ENSG00000106665	?neurodevelopmental defect of Williams syndrome		Clip2 (MGI:1313136)
chr7	74453906	74602605	7q11.23	7q11.23	604318	GTF2IRD1, GTF3, MUSTRD1, WBS	GTF21 repeat domain-containing protein 1	GTF2IRD1	9569	ENSG00000006704			Gtf2ird1 (MGI:1861942)
chr7	74657718	74760692	7q11.23	7q11.23	601679	GTF2I, BAP135, WBS	General transcription factor II-I (BTK-associated protein, 135kD)	GTF2I	2969	ENSG00000263001			Gtf2i (MGI:1202722)
chr7	74774011	74789315	7q11.23	7q11.23	608512	NCF1, CGD1	Neutrophil cytosolic factor-1, 47kD	NCF1	653361	ENSG00000158517		Chronic granulomatous disease 1, autosomal recessive, 233700 (3), Autosomal recessive	Ncf1 (MGI:97283)
chr7	74796151	74851605	7q11.23	7q11.23	608899	GTF2IRD2	GTF2I repeat domain-containing protein 2	GTF2IRD2	84163	ENSG00000196275			Gtf2ird2 (MGI:2149780)
chr7	74964705	75031528	7q11.23	7q11.23	617033	CASTOR2, GATSL2	Cytosolic arginine sensor for mTORC1 subunit 2	CASTOR2	729438	ENSG00000274070			Castor2 (MGI:1933384)
chr7	75027119	75073802	7q11.23	7q11.23	620739	RCC1L, WBSCR16	RCC1-like protein	RCC1L	81554	ENSG00000274523			Rcc1l (MGI:2137600)
chr7	75092556	75149817	7q11.23	7q11.23	608900	GTF2IRD1B	GTF2I repeat domain-containing protein 2	GTF2IRD2B	389524	ENSG00000174428			Gtf2ird2 (MGI:2149780)
chr7	75395629	75405605	7q11.23	7q11.23	612549	TRIM73, TRIM50B	Tripartite motif-containing protein 73	TRIM73	375593	ENSG00000178809			Trim50 (MGI:2664992)
chr7	75416786	75486299	7q11.23	7q11.23	615754	POM121C, POM121-2	POM121 Transmembrane nucleoporin C	POM121C	100101267	ENSG00000272391			Pom121 (MGI:2137624)
chr7	75533298	75738941	7q11.23	7q11.23	601767	HIP1	Huntingtin interacting protein-1	HIP1	3092	ENSG00000127946			Hip1 (MGI:1099804)
chr7	75769524	75791597	7q11.2	7q11.23	604697	CCL26, SCYA26	Chemokine, C-C motif, ligand 26	CCL26	10344	ENSG00000006606			Ccl26 (MGI:3589281)
chr7	75810825	75823372	7q11.23	7q11.23	602495	CCL24, SCYA24, MPIF2	Chemokine, C-C motif, ligand 24	CCL24	6369	ENSG00000106178			Ccl24 (MGI:1928953)
chr7	75879034	75888926	7q11.23	7q11.23	615203	RHBDD2	Rhomboid domain-containing protein 2	RHBDD2	57414	ENSG00000005486			Rhbdd2 (MGI:1915612)
chr7	75915155	75986855	7q11.2	7q11.23	124015	POR	Cytochrome P450 oxidoreductase	POR	5447	ENSG00000127948		Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3), Autosomal recessive; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)	Por (MGI:97744)
chr7	75986831	75994595	7q11.23	7q11.23	616550	TMEM120A, TMPIT, NET29	Transmembrane protein 120A	TMEM120A	83862	ENSG00000189077			Tmem120a (MGI:2686991)
chr7	75996337	76048000	7q11.23	7q11.23	616695	STYXL1, MKSTYX, DUSP24	Serine/threonine/tyrosine-interacting protein-like 1	STYXL1	51657	ENSG00000127952			Styxl1 (MGI:1923821)
chr7	76048106	76067508	7q11.23	7q11.23	154100	MDH2, DEE51	Malate dehydrogenase 2	MDH2	4191	ENSG00000146701		Developmental and epileptic encephalopathy 51, 617339 (3), Autosomal recessive	Mdh2 (MGI:97050)
chr7	76302673	76304292	7q11.23	7q11.23	602195	HSPB1, HSP27, CMT2F, HMND3	Heat-shock 27kD protein-1	HSPB1	3315	ENSG00000106211		Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3), Autosomal dominant; Neuronopathy, distal hereditary motor, autosomal dominant 3, 608634 (3), Autosomal dominant	Hspb1 (MGI:96240)
chr7	76326799	76358991	7q11.23	7q11.23	605356	YWHAG, DEE56	Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma isoform	YWHAG	7532	ENSG00000170027		Developmental and epileptic encephalopathy 56, 617665 (3), Autosomal dominant	Ywhag (MGI:108109)
chr7	76389337	76409697	7q11.23	7q11.23	607639	SSC4D, SRCRB4D	Scavenger receptor cysteine-rich family member with 4 domains	SSC4D	136853	ENSG00000146700			Ssc4d (MGI:1924709)
chr7	76397522	76442069	7q11.23	7q11.23	182889	ZP3, ZP3A, ZP3B, OZEMA3	Zona pellucida glycoprotein-3 (sperm receptor)	ZP3	7784	ENSG00000188372		Oocyte/zygote/embryo maturation arrest 3, 617712 (3), Autosomal dominant	Zp3 (MGI:99215)
chr7	76461709	76505991	7q11.23	7q11.23	613141	DTX2, KIAA1528	Deltex E3 ubiquitin ligase 2	DTX2	113878	ENSG00000091073			Dtx2 (MGI:1921448)
chr7	76510552	76516522	7q11.23	7q11.23	611887	UPK3B, UPIIIB, P35	Uroplakin 3B	UPK3B	105375355	ENSG00000243566			Upk3b (MGI:2140882)
chr7	76609986	76627279	7q11.2	7q11.23	600587	POMZP3	POM121/ZP3 fusion protein	POMZP3	22932	ENSG00000146707			
chr7	77122615	77295204	7q11.23	7q11.23	619829	CCDC146, KIAA1505, SPGF94	Coiled-coil domain-containing protein 146	CCDC146	57639	ENSG00000135205		Spermatogenic failure 94, 620850 (3), Autosomal recessive	Ccdc146 (MGI:1922422)
chr7	77193369	77199819	7q11.2	7q11.23	605351	FGL2	Fibrinogen-like 2	FGL2	10875	ENSG00000127951			Fgl2 (MGI:103266)
chr7	77310751	77416630	7q11.23	7q11.23	613552	GSAP, PION	Gamma-secretase-activating protein	GSAP	54103	ENSG00000186088			Gsap (MGI:2442259)
chr7	77537295	77640069	7q11.23	7q11.23	600079	PTPN12, PTPG1	Protein tyrosine phosphatase, nonreceptor-type, 12	PTPN12	5782	ENSG00000127947		Colon cancer, somatic, 114500 (3)	Ptpn12 (MGI:104673)
chr7	77657660	77697345	7q21	7q11.23	616048	APTR	Alu-mediated CDKN1A/p21 transcriptional regulator, noncoding	APTR	100505854	ENSG00000214293			
chr7	77798773	77957504	7q11.23-q21	7q11.23-q21.11	616785	PHTF2	Putative homeodomain transcription factor 2	PHTF2	57157	ENSG00000006576			Phtf2 (MGI:1916020)
chr7	77900001	98400000	7q21		608950	MAGI2IT, PR47	MAGI2 intronic transcript						
chr7	77900001	107800000	7q21-q22		154276	MHS3	Malignant hyperthermia susceptibility 3		7977		?mutation in CACNA2	{Malignant hyperthermia susceptibility 3}, 154276 (2), Autosomal dominant	
chr7	77900001	98400000	7q21		612223	STQTL11	Stature quantitative trait locus 11		100270795		associated with rs2282978	{Stature QTL 11}, 612223 (2)	
chr7	78017055	79453667	7q21	7q21.11	606382	MAGI2, AIP1, KIAA0705, NPHS15	Membrane-associated guanylate kinase, WW and PDZ domains-containing, 2	MAGI2	9863	ENSG00000187391		Nephrotic syndrome, type 15, 617609 (3), Autosomal recessive	Magi2 (MGI:1354953)
chr7	80134831	80226181	7q21	7q21.11	139310	GNAI1, NEDHISB	Guanine nucleotide-binding protein (G protein), alpha-inhibiting activity polypeptide-1	GNAI1	2770	ENSG00000127955		Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, 619854 (3), Autosomal dominant	Gnai1 (MGI:95771)
chr7	80458635	80512064	7q21.11	7q21.11	139395	GNAT3, GDCA	Guanine nucleotide-binding protein, alpha-transducing activity polypeptide 3	GNAT3	346562	ENSG00000214415			Gnat3 (MGI:3588268)
chr7	80602207	80679274	7q21.11	7q21.11	173510	CD36, CHDS7, BDPLT10	CD36 antigen (collagen type I)	CD36	948	ENSG00000135218		Platelet glycoprotein IV deficiency, 608404 (3), Autosomal recessive; {Coronary heart disease, susceptibility to, 7}, 610938 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); {Malaria, cerebral, reduced risk of}, 611162 (3)	Cd36 (MGI:107899)
chr7	80742538	80922389	7q21.11	7q21.11	602645	SEMA3C	Semaphorin 3C	SEMA3C	10512	ENSG00000075223			Sema3c (MGI:107557)
chr7	81699010	81770047	7q21.1	7q21.11	142409	HGF, DFNB39	Hepatic growth factor	HGF	3082	ENSG00000019991		Deafness, autosomal recessive 39, 608265 (3), Autosomal recessive	Hgf (MGI:96079)
chr7	81946444	82443956	7q21-q22	7q21.11	114204	CACNA2D1, CACNA2, CACNL2A, DEE110	Calcium channel, voltage-dependent, alpha-2/delta subunit	CACNA2D1	781	ENSG00000153956		Developmental and epileptic encephalopathy 110, 620149 (3), Autosomal recessive	Cacna2d1 (MGI:88295)
chr7	82754012	83162884	7q11.23-q21.1	7q21.11	604918	PCLO, PCH3	Piccolo, mouse, homolog of	PCLO	27445	ENSG00000186472		Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive	Pclo (MGI:1349390)
chr7	83363238	83649139	7q21.11	7q21.11	608166	SEMA3E, SEMAH, KIAA0331	Semaphorin 3E	SEMA3E	9723	ENSG00000170381			Sema3e (MGI:1340034)
chr7	83955777	84492725	7q21.11	7q21.11	603961	SEMA3A, SEMAD, COLL1, HH16	Semaphorin 3A	SEMA3A	10371	ENSG00000075213		{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3), Autosomal dominant	Sema3a (MGI:107558)
chr7	84995553	85250243	7q21.11	7q21.11	609907	SEMA3D	Semaphorin 3D	SEMA3D	223117	ENSG00000153993			Sema3d (MGI:1860118)
chr7	86643909	86864879	7q21.1-q21.2	7q21.11-q21.12	601115	GRM3	Glutamate receptor, metabotropic-3	GRM3	2913	ENSG00000198822			Grm3 (MGI:1351340)
chr7	86876906	87059654	7q21.12	7q21.12	614048	ELAPOR2, KIAA1324L, EIG121L	Endosome-lysosome-associated apoptosis and autophagy regulator 2	ELAPOR2	222223	ENSG00000164659			Elapor2 (MGI:2443264)
chr7	87152453	87196325	7q21.12	7q21.12	608491	DMTF1, DMP1	Cyclin D-binding MYB-like transcription factor 1	DMTF1	9988	ENSG00000135164			Dmtf1 (MGI:1344415)
chr7	87196160	87220587	7q21.12	7q21.12	616993	TMEM243, C7orf23, MMTRAG	Transmembrane protein 243	TMEM243	79161	ENSG00000135185			Tmem243 (MGI:3606159)
chr7	87325347	87345492	7q21.12	7q21.12	616403	TP53TG1	TP53 target gene 1	TP53TG1	11257	ENSG00000182165			
chr7	87345664	87399794	7q21.1	7q21.12	606090	CROT, COT	Carnitine octanoyltransferase	CROT	54677	ENSG00000005469			Crot (MGI:1921364)
chr7	87365896	87476027	7q21.1	7q21.12	171060	ABCB4, PGY3, MDR3, ICP3	ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3)	ABCB4	5244	ENSG00000005471	within 500kb of MDR1	Gallbladder disease 1, 600803 (3), Autosomal recessive, Autosomal dominant; Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3), Autosomal recessive, Autosomal dominant; Cholestasis, progressive familial intrahepatic 3, 602347 (3), Autosomal recessive	Abcb4 (MGI:97569)
chr7	87503017	87713295	7q21.1	7q21.12	171050	ABCB1, PGY1, MDR1, IBD13, ENPAT	ATP-binding cassette, subfamily B, member 1 (P-glycoprotein-1/multiple drug resistance-1)	ABCB1	5243	ENSG00000085563		Encephalopathy, acute transient, 620950 (3), Autosomal recessive; {Inflammatory bowel disease 13}, 612244 (3); {Colchicine resistance}, 120080 (3)	Abcb1a,Abcb1b (MGI:97568,MGI:97570)
chr7	87628398	87832296	7q21.12	7q21.12	617295	RUNDC3B, RPIP9	RUN domain-containing protein 3B	RUNDC3B	154661	ENSG00000105784			Rundc3b (MGI:2685286)
chr7	87833568	87876360	7q21.12	7q21.12	610821	SLC25A40	Solute carrier family 25, member 40	SLC25A40	55972	ENSG00000075303			Slc25a40 (MGI:2442486)
chr7	87876493	87909553	7q21.3	7q21.12	604281	DBF4, ASK	DBF4 zinc finger	DBF4	10926	ENSG00000006634			Dbf4 (MGI:1351328)
chr7	87934251	88202889	7q21	7q21.12	603709	ADAM22, DEE61	ADAM metallopeptidase domain 22	ADAM22	53616	ENSG00000008277		Developmental and epileptic encephalopathy 61, 617933 (3), Autosomal recessive	Adam22 (MGI:1340046)
chr7	88205115	88226976	7q21.1	7q21.12	182520	SRI, SCN	Sorcin (class 4 gene)	SRI	6717	ENSG00000075142			Sri (MGI:98419)
chr7	88270892	88306894	7q21	7q21.12	611098	STEAP4, STAMP2, TIARP	STEAP4 metalloreductase	STEAP4	79689	ENSG00000127954			Steap4 (MGI:1923560)
chr7	90154469	90164827	7q21	7q21.13	604415	STEAP1	STEAP family member 1	STEAP1	26872	ENSG00000164647			Steap1 (MGI:1917608)
chr7	90211740	90243408	7q21	7q21.13	605094	STEAP2, STAMP1, IPCA1, PCANAP1	STEAP2 metalloreductase	STEAP2	261729	ENSG00000157214			Steap2 (MGI:1921301)
chr7	90245174	90323723	7q21.13	7q21.13	617949	CFAP69, C7orf63, SPGF24	Cilia- and flagella-associated protein 69	CFAP69	79846	ENSG00000105792		Spermatogenic failure 24, 617959 (3), Autosomal recessive	Cfap69 (MGI:2443778)
chr7	90346716	90391453	7q21.13	7q21.13	610920	GTPBP10, OBGH2	GTP-binding protein 10	GTPBP10	85865	ENSG00000105793			Gtpbp10 (MGI:2385599)
chr7	90403461	90415954	7q21	7q21.13	611232	CLKDN12	Claudin 12	CLDN12	9069	ENSG00000157224			Cldn12 (MGI:1929288)
chr7	90596321	91210590	7q21.13	7q21.13	610679	CDK14, PFTK1, PFTAIRE1, KIAA0834	Cyclin-dependent kinase 14	CDK14	5218	ENSG00000058091			Cdk14 (MGI:894318)
chr7	91264433	91271326	7q21	7q21.13	603408	FZD1	Frizzled class receptor 1	FZD1	8321	ENSG00000157240			Fzd1 (MGI:1196625)
chr7	91870929	91880702	7q21.2	7q21.2	602318	MTERF	Transcription termination factor, mitochondrial	MTERF1	7978	ENSG00000127989			Mterf1a,Mterf1b,Mthfs (MGI:1340032,MGI:1918240,MGI:3704243)
chr7	91940862	92110673	7q21-q22	7q21.2	604001	AKAP9, YOTIAO, AKAP450, LQT11	A-kinase anchor protein 9	AKAP9	10142	ENSG00000127914	mutation identified in 1 LQT11 family	?Long QT syndrome 11, 611820 (3), Autosomal dominant	Akap9 (MGI:2178217)
chr7	92112153	92134803	7q21.2-q21.3	7q21.2	601637	CYP51A1, CYP51	Cytochrome P450, family 51, subfamily A, polypeptide 1 (lanosterol 14-alpha-demethylase)	CYP51A1	1595	ENSG00000001630			Cyp51 (MGI:106040)
chr7	92198969	92246100	7q11.2-q21	7q21.2	604214	KRIT1, CCM1, CAM	KRIT1 ankyrin repeat-containing protein 1	KRIT1	889	ENSG00000001631		Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3), Autosomal dominant; Cerebral cavernous malformations-1, 116860 (3), Autosomal dominant; Cavernous malformations of CNS and retina, 116860 (3), Autosomal dominant	Krit1 (MGI:1930618)
chr7	92245974	92401383	7q21.2	7q21.2	620069	ANKIB1, KIAA1386	Ankyrin repeat- and IBR domain-containing protein 1	ANKIB1	54467	ENSG00000001629			Ankib1 (MGI:1918047)
chr7	92447482	92495769	7q21.2	7q21.2	614518	GATAD1, ODAG, CMD2B	GATA zinc finger domain-containing protein 1	GATAD1	57798	ENSG00000157259	mutation identified in 1 GATAD1 family	?Cardiomyopathy, dilated, 2B, 614672 (3), Autosomal recessive	Gatad1 (MGI:1914460)
chr7	92468380	92477946	7q21-q22	7q21.2	604659	ERVW1, ERVWE1, HERVW	Endogenous retroviral family W, member 1 (syncytin)	ERVW-1	30816	ENSG00000242950			
chr7	92487025	92528520	7q21-q22	7q21.2	602136	PEX1, ZWS1, PBD1A, PBD1B, HMLR1	Peroxisome biogenesis factor-1	PEX1	5189	ENSG00000127980		Heimler syndrome 1, 234580 (3), Autosomal recessive; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3), Autosomal recessive; Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3), Autosomal recessive	Pex1 (MGI:1918632)
chr7	92528795	92540481	7q21.2	7q21.2	621015	RBM48	RNA-binding motif protein 48	RBM48	84060	ENSG00000127993			Rbm48 (MGI:2442653)
chr7	92604921	92836573	7q21-q22	7q21.2	603368	CDK6, PLSTIRE, MCPH12	Cyclin-dependent kinase 6	CDK6	1021	ENSG00000105810	mutation identified in 1 MCPH12 family	?Microcephaly 12, primary, autosomal recessive, 616080 (3), Autosomal recessive	Cdk6 (MGI:1277162)
chr7	93099518	93117979	7q21	7q21.2	610456	SAMD9, NFTC, MIRAGE, M7MLS2	Sterile alpha motif domain-containing protein 9	SAMD9	54809	ENSG00000205413		Tumoral calcinosis, familial, normophosphatemic, 610455 (3), Autosomal recessive; Monosomy 7 myelodysplasia and leukemia syndrome 2, 619041 (3), Autosomal dominant; MIRAGE syndrome, 617053 (3), Autosomal dominant	
chr7	93130056	93148385	7q21.2	7q21.2	611170	SAMD9L, ATXPC, M7MLS1, SCA49	Sterile alpha motif domain-containing 9-like	SAMD9L	219285	ENSG00000177409	mutation identified in 1 SCA49 family	Ataxia-pancytopenia syndrome, 159550 (3), Autosomal dominant; ?Spinocerebellar ataxia 49, 619806 (3), Autosomal dominant; Monosomy 7 myelodysplasia and leukemia syndrome 1, 252270 (3), Autosomal dominant	Samd9l (MGI:1343184)
chr7	93188534	93232285	7q21.2-q21.3	7q21.2	614133	HEPACAM2, MIKI	Hepacam family member 2	HEPACAM2	253012	ENSG00000188175			Hepacam2 (MGI:2141520)
chr7	93232366	93361123	7q21.2-q21.3	7q21.2-q21.3	616465	VPS50, CCDC132, KIAA1861, NEDMSC	VPS50, EARP/GARPII complex subunit	VPS50	55610	ENSG00000004766		Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, 619685 (3), Autosomal recessive	Vps50 (MGI:1920538)
chr7	93424486	93574724	7q21.3	7q21.3	114131	CALCR, CRT	Calcitonin receptor	CALCR	799	ENSG00000004948	not deleted in Williams syndrome	{Osteoporosis, postmenopausal, susceptibility}, 166710 (3), Autosomal dominant	Calcr (MGI:101950)
chr7	93483936	93484019	7q21.3	7q21.3	614523	MIR489	Micro RNA 489	MIR489	574442	ENSG00000207656	in intron 4 of CALCR		Mir489 (MGI:3619425)
chr7	93885396	93890753	7q22	7q21.3	600033	TFPI2	Tissue factor pathway inhibitor-2	TFPI2	7980	ENSG00000105825			Tfpi2 (MGI:108543)
chr7	93906567	93911265	7q21.3	7q21.3	189970	GNGT1	Guanine nucleotide-binding protein, gamma-transducing activity polypeptide 1	GNGT1	2792	ENSG00000127928			Gngt1 (MGI:109165)
chr7	93921735	93928610	7q21.3	7q21.3	604390	GNG11	Guanine nucleotide-binding protein, gamma 11	GNG11	2791	ENSG00000127920			Gng11 (MGI:1913316)
chr7	93962762	94004355	7q21.3	7q21.3	605456	BET1, MDRP	Bet1 golgi vesicular membrane-trafficking protein	BET1	10282	ENSG00000105829		Muscular dystrophy, congenital, with rapid progression, 254100 (3), Autosomal recessive	Bet1 (MGI:1343104)
chr7	94394895	94431227	7q22.1	7q21.3	120160	COL1A2, EDSCV, EDSARTH2	Collagen I, alpha-2 polypeptide	COL1A2	1278	ENSG00000164692	~17cM from CF	Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant; {Osteoporosis, postmenopausal}, 166710 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3), Autosomal dominant; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, 619120 (3), Autosomal dominant; Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3), Autosomal recessive; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant	Col1a2 (MGI:88468)
chr7	94509809	94634172	7q21	7q21.3	611686	CASD1, C7orf12	CAS1 domain-containing protein 1	CASD1	64921	ENSG00000127995			Casd1 (MGI:2384865)
chr7	94584980	94656133	7q21	7q21.3	604149	SGCE, DYT11	Sarcoglycan, epsilon	SGCE	8910	ENSG00000127990	pseudogene on 2q21; maternally imprinted	Dystonia-11, myoclonic, 159900 (3), Autosomal dominant	Sgce (MGI:1329042)
chr7	94656325	94669695	7q21	7q21.3	609810	PEG10, KIAA1051	Paternally expressed gene 10	PEG10	23089	ENSG00000242265			Peg10 (MGI:2157785)
chr7	94907236	95296415	7q21.3	7q21.3	602468	PPP1R9A, NRBI, NRB1, KIAA1222	Protein phosphatase 1, regulatory subunit 9A (neurabin I)	PPP1R9A	55607	ENSG00000158528			Ppp1r9a (MGI:2442401)
chr7	95297676	95324532	7q21.3	7q21.3	168820	PON1, PON, ESA, MVCD5	Paraoxonase-1	PON1	5444	ENSG00000005421		{Coronary artery spasm 2, susceptibility to} (3); {Organophosphate poisoning, sensitivity to} (3); {Coronary artery disease, susceptibility to} (3); {Microvascular complications of diabetes 5}, 612633 (3)	Pon1 (MGI:103295)
chr7	95359872	95396375	7q21.3	7q21.3	602720	PON3	Paraoxonase-3	PON3	5446	ENSG00000105852			Pon3 (MGI:106686)
chr7	95404862	95435028	7q21.3	7q21.3	602447	PON2	Paraoxonase-2	PON2	5445	ENSG00000105854		{Coronary artery disease, susceptibility to} (3)	Pon2 (MGI:106687)
chr7	95470656	95551317	7q21-q22	7q21.3	605761	ASB4	Ankyrin repeat-containing SOCS box protein 4	ASB4	51666	ENSG00000005981			Asb4 (MGI:1929751)
chr7	95583499	95596516	7q21.3-q22.1	7q21.3	602527	PDK4	Pyruvate dehydrogenase kinase, isoenzyme 4	PDK4	5166	ENSG00000004799			Pdk4 (MGI:1351481)
chr7	95772554	96110322	7q21.3-q22.1	7q21.3	603772	DNCI1	Dynein, cytoplasmic, intermediate chain 1	DYNC1I1	1780	ENSG00000158560			Dync1i1 (MGI:107743)
chr7	96120220	96322098	7q21.3	7q21.3	603859	SLC25A13, CTLN2, NICCD	Solute carrier family 25 (mitochondrial carrier, citrin), member 13	SLC25A13	10165	ENSG00000004864		Citrullinemia, type II, neonatal-onset, 605814 (3), Autosomal recessive; Citrullinemia, adult-onset type II, 603471 (3), Autosomal recessive	Slc25a13 (MGI:1354721)
chr7	96481626	96709846	7q21.3-q22.1	7q21.3	601285	SEM!, DSS1	Proteasome 26S subunit SEM1	SEM1	7979	ENSG00000127922	?gene mutant in SHFM1		Sem1 (MGI:109238)
chr7	97005553	97011040	7q22	7q21.3	600030	DLX6	Distal-less homeobox 6	DLX6	1750	ENSG00000006377			Dlx6 (MGI:101927)
chr7	97020396	97024831	7q22	7q21.3	600028	DLX5, SHFM1D, SHFM1	Distal-less homeobox 5	DLX5	1749	ENSG00000105880	mutation identified in 1 SHFM1D family	Split-hand/foot malformation 1, 183600 (3), Autosomal dominant; ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3), Autosomal recessive	Dlx5 (MGI:101926)
chr7	97117698	97181763	7q21.3	7q21.3	615773	SDHAF3, ACN9	Succinate dehydrogenase complex assembly factor 3	SDHAF3	57001	ENSG00000196636			Sdhaf3 (MGI:1913288)
chr7	97732086	97740472	7q21-q22	7q21.3	162320	TAC1, TAC2, NKNA	Tachykinin 1 (substance K; neurokinin A; neurokinin 2; neuromedin L; neuropeptide gamma; tachykinin 2)	TAC1	6863	ENSG00000006128			Tac1 (MGI:98474)
chr7	97851677	97928441	7q21-q31	7q21.3	108370	ASNS, ASNSD	Asparagine synthetase	ASNS	440	ENSG00000070669	temperature sensitive G1 mutant	Asparagine synthetase deficiency, 615574 (3), Autosomal recessive	Asns (MGI:1350929)
chr7	97984687	97990196	7q21.3	7q21.3	620522	OCM2	Oncomodulin 2	OCM2	4951	ENSG00000135175			Ocm (MGI:97401)
chr7	98106862	98209638	7q21.3-q22.1	7q21.3	610989	LMTK2, KPI2, BREK, KIAA1079	Lemur tyrosine kinase 2	LMTK2	22853	ENSG00000164715			Lmtk2 (MGI:3036247)
chr7	98211439	98215457	7q21	7q21.3	608606	BHLHA15, MIST1	Basic helix-loop-helix family, member A15	BHLHA15	168620	ENSG00000180535			Bhlha15 (MGI:891976)
chr7	98214624	98252232	7q21.3	7q21.3	614781	TECPR1, KIAA1358	Tectonin beta-propeller repeat-containing 1	TECPR1	25851	ENSG00000205356			Tecpr1 (MGI:1917631)
chr7	98281686	98323430	7q21.3	7q21.3	615628	BRI3	Brain protein I3	BRI3	25798	ENSG00000164713			Bri3 (MGI:1933174)
chr7	98291650	98401090	7q21.3-q22.1	7q21.3-q22.1	611877	BAIAP2L1, IRTKS	BAI1-associated protein 2-like 1	BAIAP2L1	55971	ENSG00000006453			Baiap2l1 (MGI:1914148)
chr7	98400001	107800000	7q22		209850	AUTS1	Autism, susceptibility to, 1		100188832			{Autism susceptibility 1}, 209850 (2), Multifactorial, Isolated cases	
chr7	98400001	132900000	7q22-q32		148750	G7P1	Kinase-like protein						
chr7	98400001	104200000	7q22.1		612130	GAEC1	Gene amplified in esophageal cancer 1		100126794				
chr7	98400001	107800000	7q22		191390	IBD11	Inflammatory bowel disease 11		100529151		associated with MUC3A	{Inflammatory bowel disease 11}, 191390 (2), Multifactorial	
chr7	98400001	107800000	7q22		605633	MUC3B	Mucin 3B, intestinal	MUC3B	57876				Muc3a (MGI:3588263)
chr7	98400001	107800000	7q22		608580	MYH16	Myosin, heavy chain 16, skeletal muscle	MYH16	84176	ENSG00000002079	inactivated in humans; expressed in masticatory muscles in nonhuman primates		
chr7	98400001	107800000	7q22		608562	PAPA4	Polydactyly, postaxial, type A4		450096		highest lod with D7S1799	Polydactyly, postaxial, type A4, 608562 (2)	
chr7	98400001	132900000	7q22-q32		607458	SCA18, SMNA	Spinal cerebellar ataxia 18		94008		between D7S2418 and D7S1804	Spinocerebellar ataxia 18, 607458 (2), Autosomal dominant	
chr7	98400001	107800000	7q22		617677	ZASP	ZO2-associated speckle protein						
chr7	98617285	98629869	7q21.3-q22.1	7q22.1	600750	NPTX2	Neuronal pentraxin 2	NPTX2	4885	ENSG00000106236			Nptx2 (MGI:1858209)
chr7	98878532	99013241	7q21.2-q22.1	7q22.1	603015	TRRAP, DEDDFA, DFNA75	Transformation/transcription domain-associated protein	TRRAP	8295	ENSG00000196367	?mutation identified in 1 DFNA75 family	?Deafness, autosomal dominant 75, 618778 (3), Autosomal dominant; Developmental delay with or without dysmorphic facies and autism, 618454 (3), Autosomal dominant	Trrap (MGI:2153272)
chr7	99027440	99144108	7q21.1-q31.1	7q22.1	605568	SMURF1	SMAD ubiquitination regulatory factor 1	SMURF1	57154	ENSG00000198742			Smurf1 (MGI:1923038)
chr7	99145804	99219419	7q22.1	7q22.1	614107	KPNA7, OZEMA17	Karyopherin alpha 7	KPNA7	402569	ENSG00000185467		Oocyte/zygote/embryo maturation arrest 17, 620319 (3), Autosomal recessive	Kpna7 (MGI:2141165)
chr7	99325898	99366262	7q21-q22	7q22.1	604220	ARPC1A, SOP2L	Actin-related protein 2/3 complex, subunit 1A	ARPC1A	10552	ENSG00000241685			Arpc1a (MGI:1928896)
chr7	99374259	99394816	7q21-q22	7q22.1	604223	ARPC1B, ARC41, IMD71	Actin-related protein 2/3 complex, subunit 1B	ARPC1B	10095	ENSG00000130429		Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, 617718 (3), Autosomal recessive	Arpc1b (MGI:1343142)
chr7	99394673	99408597	7q22.1	7q22.1	607075	PDAP1, PAP1, PAP	PDGFA-associated protein 1	PDAP1	11333	ENSG00000106244			Pdap1 (MGI:2448536)
chr7	99408969	99419616	7q22.1	7q22.1	603477	BUD31, G10	BUD31 homolog	BUD31	8896	ENSG00000106245			Bud31 (MGI:2141291)
chr7	99416739	99438798	7q22.1	7q22.1	614774	PTCD1, KIAA0632	Pentatricopeptide repeat domain 1	PTCD1	26024	ENSG00000106246			Ptcd1 (MGI:1919049)
chr7	99438943	99457373	7q21-q22	7q22.1	603052	CPSF4, CPSF30, NEB1	Cleavage-polyadenylation specificity factor 4, 30kD	CPSF4	10898	ENSG00000160917			Cpsf4 (MGI:1861602)
chr7	99458195	99466167	7q22.1	7q22.1	619792	ATP5MF, ATP5JL, ATP5J2	ATP synthase membrane subunit F	ATP5MF	9551	ENSG00000241468			Atp5mf (MGI:1927558)
chr7	99486519	99500281	7q22.1	7q22.1	619300	ZNF394	Zinc finger protein 394	ZNF394	84124	ENSG00000160908			Zkscan14 (MGI:1914485)
chr7	99504662	99534700	7q22.1	7q22.1	611272	ZKSCAN5, ZFP95, KIAA1015	Zinc finger protein with KRAB and SCAN domains 5	ZKSCAN5	23660	ENSG00000196652			Zkscan5 (MGI:107533)
chr7	99558642	99576453	7q22.1	7q22.1	617891	ZNF655, VIK	Zinc finger protein 655	ZNF655	79027	ENSG00000197343			Zfp655 (MGI:1919861)
chr7	99648194	99679996	7q22.1	7q22.1	605325	CYP3A5, P450PCN3	Cytochrome P450, subfamily IIIA, polypeptide 5	CYP3A5	1577	ENSG00000106258		{Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3), Multifactorial	Cyp3a11,Cyp3a13,Cyp3a16,Cyp3a41a,Cyp3a41b,Cyp3a44 (MGI:106099,MGI:1858451,MGI:2449818,MGI:3714859,MGI:88609,MGI:88610)
chr7	99705036	99735196	7q22.1	7q22.1	605340	CYP3A7	Cytochrome P450, subfamily IIIA, polypeptide 7	CYP3A7	1551	ENSG00000160870			Cyp3a13,Cyp3a25,Cyp3a59 (MGI:1930638,MGI:3769707,MGI:88610)
chr7	99756967	99784184	7q22.1	7q22.1	124010	CYP3A4, VDDR3	Cytochrome P450, subfamily IIIA (nifedipine oxidase) polypeptide 4	CYP3A4	1576	ENSG00000160868		Vitamin D-dependent rickets, type 3, 619073 (3), Autosomal dominant	Cyp3a13 (MGI:88610)
chr7	99828013	99866093	7q22.1	7q22.1	606534	CYP3A43	Cytochrome P450, subfamily IIIa, polypeptide 43	CYP3A43	64816	ENSG00000021461			Cyp3a25,Cyp3a57,Cyp3a59 (MGI:1930638,MGI:3646373,MGI:3769707)
chr7	99923266	99930747	7q22.1	7q22.1	611925	GJC3, CX30.2, CX31.3	Gap junction protein, gamma-3	GJC3	349149	ENSG00000176402			Gjc3 (MGI:2153041)
chr7	99966730	99976031	7q22.1	7q22.1	194460	AZGP1, ZAG	Alpha-2-glycoprotein, zinc	AZGP1	563	ENSG00000160862			Azgp1 (MGI:103163)
chr7	100015596	100045374	7q21-q22	7q22.1	601260	ZNF36, KOX18	Zinc finger protein-36 (KOX 18)	ZKSCAN1	7586	ENSG00000106261			Zkscan1 (MGI:1921820)
chr7	100049774	100065040	7q21-q22	7q22.1	601261	ZNF38, KOX25	Zinc finger protein-38 (KOX 25)	ZSCAN21	7589	ENSG00000166529			Zscan21 (MGI:99182)
chr7	100063837	100082577	7q22.1	7q22.1	194510	ZNF3	Zinc finger protein-3	ZNF3	7551	ENSG00000166526	?relation to ZNF4, ZNF5; previous assignment to Chr.5		Zfp113 (MGI:1929116)
chr7	100088969	100092187	7q22.1	7q22.1	614729	COPS6, CSN6	COP9 signalosome, subunit 6	COPS6	10980	ENSG00000168090			Cops6 (MGI:1349439)
chr7	100092728	100101397	7q22.1	7q22.1	600592	MCM7, MCM2	Minichromosome maintenance complex component 7	MCM7	4176	ENSG00000166508			Mcm7 (MGI:1298398)
chr7	100093560	100093643	7q22.1	7q22.1	612150	MIR25, MIRN25	Micro RNA 25	MIR25	407014	ENSG00000207547			Mir25 (MGI:3619266)
chr7	100093768	100093847	7q22	7q22.1	612984	MIR93, MIRN9	Micro RNA 93	MIR93	407050	ENSG00000207757			Mir93 (MGI:3619439)
chr7	100093993	100094074	7q22	7q22.1	612983	MIR106B, MIRN106B	Micro RNA 106B	MIR106B	406900	ENSG00000208036			Mir106b (MGI:3619060)
chr7	100100794	100109039	7q22.1	7q22.1	602296	AP4M1, SPG50, CPSQ3	Adaptor-related protein complex 4, mu-1 subunit	AP4M1	9179	ENSG00000221838		Spastic paraplegia 50, autosomal recessive, 612936 (3), Autosomal recessive	Ap4m1 (MGI:1337063)
chr7	100107070	100127171	7q22.1	7q22.1	602955	TAF6, TAF2E, TAFII80, ALYUS	TAF6 RNA polymerase II, TATA box-binding protein-associated factor, 80kD	TAF6	6878	ENSG00000106290		Alazami-Yuan syndrome, 617126 (3), Autosomal recessive	Taf6 (MGI:109129)
chr7	100119634	100125508	7q22.1	7q22.1	610047	CNPY4, PRAT4B, MGC40499	Canopy 4, zebrafish, homolog of	CNPY4	245812	ENSG00000166997			Cnpy4 (MGI:1913705)
chr7	100126967	100128495	7q22.1	7q22.1	620906	MBLAC1	Metallo-beta-lactamase domain-containing protein 1	MBLAC1	255374	ENSG00000214309			Mblac1 (MGI:2679717)
chr7	100148918	100154203	7q22.1	7q22.1	618834	LAMTOR4, C7orf59	Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 4	LAMTOR4	389541	ENSG00000188186			Lamtor4 (MGI:1913346)
chr7	100154423	100158723	7q22.1	7q22.1	618350	MAP11, C7orf43, MCPH25	Microtubule-associated protein 11	TRAPPC14	55262	ENSG00000146826	mutation identified in 1 MCHP25 family	?Microcephaly 25, primary, autosomal recessive, 618351 (3), Autosomal recessive	Trappc14 (MGI:2385896)
chr7	100159244	100168617	7q22	7q22.1	608235	GAL3ST4	Galactose-3-O-sulfotransferase 4	GAL3ST4	79690	ENSG00000197093			Gal3st4 (MGI:1916254)
chr7	100169606	100177381	7q22.1	7q22.1	618446	GPC2	Glypican 2	GPC2	221914	ENSG00000213420			Gpc2 (MGI:1919201)
chr7	100177724	100219334	7q22	7q22.1	608489	STAG3, POF8, SPGF61	Stromalin 3	STAG3	10734	ENSG00000066923		Spermatogenic failure 61, 619672 (3), Autosomal recessive; Premature ovarian failure 8, 615723 (3), Autosomal recessive	Stag3 (MGI:1355311)
chr7	100219248	100221490	7q22.1	7q22.1	617012	PVRIG, CD112R, C7orf15	Poliovirus receptor-related immunoglobulin domain-containing protein	PVRIG	79037	ENSG00000213413			Pvrig (MGI:5596028)
chr7	100307702	100322196	7q22.1	7q22.1	617625	SPDYE3, SPDYB2	Speedy/RINGO cell cycle regulator family, member E3	SPDYE3	441272	ENSG00000214300			
chr7	100320640	100336307	7q22.1	7q22.1	605038	PMS2P1, PMS2L1, PMS3	Postmeiotic segregation increased 2 pseudogene 1	PMS2P1	5379	ENSG00000291178			
chr7	100358117	100367831	7q22	7q22.1	605342	PILRB	Paired immunoglobulin-like receptor, beta	PILRB	29990	ENSG00000121716			Pilra,Pilrb1,Pilrb2 (MGI:2450529,MGI:2450532,MGI:2450535)
chr7	100371291	100400096	7q22	7q22.1	605341	PILRA	Paired immunoglobulin-like receptor, alpha	PILRA	29992	ENSG00000085514			Pilra,Pilrb2 (MGI:2450529,MGI:2450535)
chr7	100400872	100428703	7q22.1	7q22.1	618900	ZCWPW1	Zinc finger CW-type domain- and PWWP domain-containing protein 1	ZCWPW1	55063	ENSG00000078487			Zcwpw1 (MGI:2685899)
chr7	100428790	100434118	7q22	7q22.1	611478	MEPCE, BCDIN3	Methylphosphate capping enzyme	MEPCE	56257	ENSG00000146834			Mepce (MGI:106477)
chr7	100435282	100436698	7q22.1	7q22.1	618937	PPP1R35, C7orf47	Protein phosphatase 1, regulatory subunit 35	PPP1R35	221908	ENSG00000160813			Ppp1r35 (MGI:1922853)
chr7	100456620	100464260	7q22.1	7q22.1	619782	SPACDR, C7orf61	Sperm acrosome developmental regulator	SPACDR	402573	ENSG00000185955			Tsc22d4 (MGI:1926079)
chr7	100466519	100479214	7p21-p15	7q22.1	611914	TSC22D4, THG1	TSC22 domain family, member 4	TSC22D4	81628	ENSG00000166925			Tsc22d4 (MGI:1926079)
chr7	100483927	100494802	7q22.1	7q22.1	615477	NYPA1	Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1	NYAP1	222950	ENSG00000166924			Nyap1 (MGI:2443880)
chr7	100539203	100568220	7q22.1	7q22.1	604019	AGFG2, HRBL, RABR	ADP-ribosylation factor GTPase-activating protein with FG repeats 2	AGFG2	3268	ENSG00000106351			Agfg2 (MGI:2443267)
chr7	100572228	100573900	7q22.1	7q22.1	619230	SAP25	SIN3A-associated protein, 25kD	SAP25	100316904	ENSG00000205307			Sap25 (MGI:3802945)
chr7	100574011	100586129	7q22	7q22.1	620165	LRCH4	Leucine-rich repeats- and calponin homology domain-containing protein 4	LRCH4	4034	ENSG00000077454			Lrch4 (MGI:1917193)
chr7	100586328	100601117	7q22	7q22.1	609097	FBXO24, FBX24	F-box only protein 24	FBXO24	26261	ENSG00000106336			Fbxo24 (MGI:1918426)
chr7	100602363	100608175	7q21.3-q22	7q22.1	600270	PCOLCE	Procollagen C-endopeptidase enhancer	PCOLCE	5118	ENSG00000106333			Pcolce (MGI:105099)
chr7	100612162	100615377	7q22.1	7q22.1	609125	MOSPD3	Motile sperm domain-containing protein 3	MOSPD3	64598	ENSG00000106330			Mospd3 (MGI:1916179)
chr7	100620420	100641552	7q22	7q22.1	604720	TFR2, HFE3	Transferrin receptor 2	TFR2	7036	ENSG00000106327		Hemochromatosis, type 3, 604250 (3), Autosomal recessive	Tfr2 (MGI:1354956)
chr7	100643097	100656448	7q22	7q22.1	612458	ACTL6B, BAF53B, IDDSSAD, DEE76	Actin-like 6B	ACTL6B	51412	ENSG00000077080		Developmental and epileptic encephalopathy 76, 618468 (3), Autosomal recessive; Intellectual developmental disorder with severe speech and ambulation defects, 618470 (3), Autosomal dominant	Actl6b (MGI:1933548)
chr7	100673740	100679169	7q21	7q22.1	139390	GNB2, SSS4; NEDHYDF	Guanine nucleotide-binding protein, beta polypeptide-2	GNB2	2783	ENSG00000172354	mutation identified in 1 SSS4 family	Neurodevelopmental disorder with hypotonia and dysmorphic facies, 619503 (3), Autosomal dominant; ?Sick sinus syndrome 4, 619464 (3), Autosomal dominant	Gnb2 (MGI:95784)
chr7	100679507	100694250	7q22.1	7q22.1	612064	GIGYF1	GRB10-interacting GYF protein 1	GIGYF1	64599	ENSG00000146830			Gigyf1 (MGI:1888677)
chr7	100706121	100707486	7q22	7q22.1	606113	POP7, RPP20	POP7 homolog, ribonuclease P/MRP subunit	POP7	10248	ENSG00000172336			Pop7 (MGI:1921347)
chr7	100720468	100723700	7q21	7q22.1	133170	EPO, MVCD2, ECYT5, DBAL	Erythropoietin	EPO	2056	ENSG00000130427	mutation identified in 1 DBAL family	{Microvascular complications of diabetes 2}, 612623 (3); Erythrocytosis, familial, 5, 617907 (3), Autosomal dominant; ?Diamond-Blackfan anemia-like, 617911 (3), Autosomal recessive	Epo (MGI:95407)
chr7	100733595	100797797	7q22	7q22.1	602372	ZAN	Zonadhesin	ZAN	7455	ENSG00000146839			Zan (MGI:106656)
chr7	100802565	100827523	7q22	7q22.1	600011	EPHB4, HTK, MYK1, HFASD, CMAVM2, LMPHM7	Ephrin receptor EphB4 (hepatoma transmembrane kinase)	EPHB4	2050	ENSG00000196411		Capillary malformation-arteriovenous malformation 2, 618196 (3), Autosomal dominant; Lymphatic malformation 7, 617300 (3), Autosomal dominant	Ephb4 (MGI:104757)
chr7	100826869	100867012	7q22	7q22.1	616861	SLC12A9, CIP1, CCC6	Solute carrier family 12 (potassium/chloride transporter), member 9	SLC12A9	56996	ENSG00000146828			Slc12a9 (MGI:1933532)
chr7	100867387	100873454	7q22	7q22.1	602933	TRIP6, OIP1	Thyroid hormone receptor interactor-6	TRIP6	7205	ENSG00000087077			Trip6 (MGI:1343458)
chr7	100875103	100888664	7q22	7q22.1	614469	SRRT, ARS2	Serrate RNA effector molecule	SRRT	51593	ENSG00000087087			Srrt (MGI:1933527)
chr7	100888721	100889715	7q22.1	7q22.1	611481	UFSP1	UFM1-specific peptidase 1	UFSP1	402682	ENSG00000176125			Ufsp1 (MGI:1917490)
chr7	100889994	100896994	7q22	7q22.1	100740	ACHE, YT	Acetylcholinesterase (YT blood group)	ACHE	43	ENSG00000087085	blood group YT (112100) = epitope of ACHE	[Blood group, Yt system], 112100 (3)	Ache (MGI:87876)
chr7	100949534	100968347	7q22	7q22.1	158371	MUC3A	Mucin 3A, intestinal	MUC3A	4584	ENSG00000169894			Muc3a (MGI:3588263)
chr7	100969565	101018936	7q22	7q22.1	604609	MUC12, MUC11	Mucin 12	MUC12	10071	ENSG00000205277			Muc12 (MGI:5590319)
chr7	101020081	101058859	7q22	7q22.1	608424	MUC17	Mucin 17	MUC17	140453	ENSG00000169876			Muc17 (MGI:1203527)
chr7	101085481	101097967	7q22.1	7q22.1	616996	TRIM56	Tripartite motif-containing protein 56	TRIM56	81844	ENSG00000169871			Trim56 (MGI:2685298)
chr7	101127104	101139247	7q21.3-q22	7q22.1	173360	PAI1, PLANH1, SERPINE1	Plasminogen activator inhibitor, type I	SERPINE1	5054	ENSG00000106366		Plasminogen activator inhibitor-1 deficiency, 613329 (3), Autosomal recessive, Autosomal dominant; {Transcription of plasminogen activator inhibitor, modulator of} (3)	Serpine1 (MGI:97608)
chr7	101154476	101161276	7q22.1	7q22.1	603531	AP1S1, CLAPS1, AP19, MEDNIK	Adaptor-related protein complex 1, sigma 1 subunit	AP1S1	1174	ENSG00000106367		MEDNIK syndrome, 609313 (3), Autosomal recessive	Ap1s1 (MGI:1098244)
chr7	101162509	101169952	7q22	7q22.1	602186	VGF	VGF nerve growth factor inducible	VGF	7425	ENSG00000128564			Vgf (MGI:1343180)
chr7	101170496	101180293	7q22.1	7q22.1	615783	NAT16	N-acetyltransferase 16	NAT16	375607	ENSG00000167011			
chr7	101192886	101201036	7q22.1	7q22.1	610184	MOGAT3, MGAT3	Monoacylglycerol O-acyltransferase 3	MOGAT3	346606	ENSG00000106384			
chr7	101205984	101217581	7q22	7q22.1	603066	PLOD3, LH3, BCARD	Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (lysyl hydroxylase 3)	PLOD3	8985	ENSG00000106397		BCARD syndrome (lysyl hydroxylase 3 deficiency), 612394 (3), Autosomal recessive	Plod3 (MGI:1347008)
chr7	101218165	101224190	7q22.1	7q22.1	618617	ZNHIT1, ZNFN4A1	Zinc finger HIT domain-containing protein 1	ZNHIT1	10467	ENSG00000106400			Znhit1 (MGI:1917353)
chr7	101232094	101238820	7q22.1	7q22.1	615778	CLDN15	Claudin 15	CLDN15	24146	ENSG00000106404			Cldn15 (MGI:1913103)
chr7	101239472	101245081	7q22.1	7q22.1	609003	FIS1, TTC11	Fission, mitochondrial 1	FIS1	51024	ENSG00000214253			Fis1 (MGI:1913687)
chr7	101308307	101311339	7q22.1	7q22.1	618575	EMSLR, EMS	E2F1 mRNA stabilizing long noncoding RNA	EMSLR	101927746				
chr7	101310914	101321823	7q22.1	7q22.1	620505	IFT22, RABL5	Intraflagellar transport 22	IFT22	64792	ENSG00000128581			Ift22 (MGI:1914536)
chr7	101362388	101559024	7q22.1	7q22.1	608927	EMID2, EMU2, COL26A1	EMI domain-containing protein 2	COL26A1	136227	ENSG00000160963			Col26a1 (MGI:2155345)
chr7	101613330	101629296	7q22.1	7q22.1	617177	MYL10, PLRLC	Myosin light chain 10	MYL10	93408	ENSG00000106436			Myl10 (MGI:1891705)
chr7	101816007	102283958	7q22	7q22.1	116896	CUX1, CUTL1, CDP, GDDI	Cut-like homeobox 1	CUX1	1523	ENSG00000257923		Global developmental delay with or without impaired intellectual development, 618330 (3), Autosomal dominant	Cux1 (MGI:88568)
chr7	102285141	102321711	7q22	7q22.1	605300	APS	Adaptor protein containing PH and SH2 domains	SH2B2	10603	ENSG00000160999			Sh2b2 (MGI:1345171)
chr7	102396363	102426666	7q22.1	7q22.1	617458	PRKRIP1, C114	PRKR-interacting protein 1, IL11-inducible	PRKRIP1	79706	ENSG00000128563			Prkrip1 (MGI:1914051)
chr7	102433575	102456825	7q22.1	7q22.1	610929	ORAI2, MEM142B, C7orf19	ORAI calcium release-activated calcium modulator 2	ORAI2	80228	ENSG00000160991			Orai2 (MGI:2443195)
chr7	102456238	102464863	7q22.1	7q22.1	613302	ALKBH4, ABH4	AlkB homolog 4, lysine demethylase	ALKBH4	54784	ENSG00000160993			Alkbh4 (MGI:1919291)
chr7	102464984	102473168	7q22.1	7q22.1	615167	LRWD1, ORCA	Leucine-rich repeats- and WD repeat domain-containing protein 1	LRWD1	222229	ENSG00000161036			Lrwd1 (MGI:1918985)
chr7	102473128	102478922	7q22-q31.1	7q22.1	604150	POLR2J	Polymerase II, RNA, subunit J	POLR2J	5439	ENSG00000005075			Polr2j (MGI:109582)
chr7	102551226	102565227	7q22.1	7q22.1	617624	SPDYE2, SPDYB2L1	Speedy/RINGO cell cycle regulator family, member E2	SPDYE2	441273	ENSG00000205238			
chr7	102579646	102616758	7q22	7q22.1	607943	RASA4, CAPRI, GAPL, KIAA0538	Ras p21 protein activator 4	RASA4	10156	ENSG00000105808			Rasa4 (MGI:1858600)
chr7	102666046	102671663	7q11.2	7q22.1	609881	POLR2J2, RPB11	RNA polymerase II, subunit J2	POLR2J2	246721	ENSG00000228049			Polr2j (MGI:109582)
chr7	102811189	103074796	7q22.1	7q22.1	609080	EBXL13, FBL13	F-box and leucine-rich repeat protein 13	FBXL13	222235	ENSG00000161040			Fbxl13 (MGI:2443416)
chr7	102913000	102945111	7q22.1	7q22.1	618749	LRRC17	Leucine-rich repeat-containing protein 17	LRRC17	10234	ENSG00000128606			Lrrc17 (MGI:1921761)
chr7	102973430	102988853	7q22.1	7q22.1	612133	NFE4	Transcription factor NFE4	NFE4	58160	ENSG00000230257			
chr7	103075140	103099759	7q11.2	7q22.1	611864	ARMC10, SVH	Armadillo repeat-containing protein 10	ARMC10	83787	ENSG00000170632			Armc10 (MGI:1914461)
chr7	103099776	103150001	7q22.1	7q22.1	612334	NAPEPLD	N-acyl phosphatidylethanolamine-hydrolyzing phospholipase D	NAPEPLD	222236	ENSG00000161048			Napepld (MGI:2140885)
chr7	103297435	103347542	7q22.1	7q22.1	603131	PMPCB, MPPB	Peptidase, mitochondrial processing, beta	PMPCB	9512	ENSG00000105819		Multiple mitochondrial dysfunctions syndrome 6, 617954 (3), Autosomal recessive	Pmpcb (MGI:1920328)
chr7	103312289	103344767	7q22	7q22.1	605502	DNAJC2, ZRF1, MPP11	DnaJ (Hsp40) homolog, subfamily C, member 2	DNAJC2	27000	ENSG00000105821			Dnajc2 (MGI:99470)
chr7	103347524	103369395	7q22.1-q22.3	7q22.1	154365	PSMC2, MSS1, S7	Proteasome 26S subunit, ATPase, 2	PSMC2	5701	ENSG00000161057			Psmc2 (MGI:109555)
chr7	103352730	103446207	7q22.1	7q22.1	604943	SLC26A5, PRES, DFNB61	Solute carrier family 26, member 5	SLC26A5	375611	ENSG00000170615	mutation identified in 1 DFNB61 family	?Deafness, autosomal recessive 61, 613865 (3), Autosomal recessive	Slc26a5 (MGI:1933154)
chr7	103471789	103989658	7q22	7q22.1	600514	RELN, RL, LIS2, ETL7	Reelin	RELN	5649	ENSG00000189056		{Epilepsy, familial temporal lobe, 7}, 616436 (3), Autosomal dominant; Lissencephaly 2 (Norman-Roberts type), 257320 (3), Autosomal recessive	Reln (MGI:103022)
chr7	104126341	104208013	7q22.1	7q22.1-q22.2	602331	ORC5, ORC5L	Origin recognition complex, subunit 5	ORC5	5001	ENSG00000164815			Orc5 (MGI:1347044)
chr7	104328603	104908561	7q22.1	7q22.2-q22.3	609719	LHFPL3	LHFP tetraspan subfamily, member 3	LHFPL3	375612	ENSG00000187416			Lhfpl3 (MGI:1925076)
chr7	104900001	115000000	7q22.3-q31.1		609915	CMD1Q	Cardiomyopathy, dilated, 1Q		664728		between D7S2545 and D7S2554	Cardiomyopathy, dilated, 1Q, 609915 (2)	
chr7	104900001	107800000	7q22.3		614646	MPVQTL6	Mean platelet volume quantitative trait locus 6		100887751		associated with rs342293	Mean platelet volume QTL6, 614646 (2)	
chr7	105014205	105115019	7q22	7q22.3	608444	KMT2E, MLL5, ODLURO	Lysine (K)-specific methyltransferase 2E	KMT2E	55904	ENSG00000005483		O'Donnell-Luria-Rodan syndrome, 618512 (3), Autosomal dominant	Kmt2e (MGI:1924825)
chr7	105114740	105399357	7q22.3	7q22.3	602980	SRPK2	SRSF protein kinase 2	SRPK2	6733	ENSG00000135250			Srpk2 (MGI:1201408)
chr7	105456501	105522271	7q22.3	7q22.3	616261	PUS7, KIAA1897, IDDABS	Pseudouridylate synthase 7, putative	PUS7	54517	ENSG00000091127		Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 (3), Autosomal recessive	Pus7 (MGI:1925947)
chr7	105532201	105567677	7q22.3	7q22.3	610089	RINT1, ILFS3	RAD50-interacting protein 1	RINT1	60561	ENSG00000135249		Infantile liver failure syndrome 3, 618641 (3), Autosomal recessive	Rint1 (MGI:1916233)
chr7	105963264	106036432	7q22.3	7q22.3	615610	CDHR3	Cadherin-related family, member 3	CDHR3	222256	ENSG00000128536			Cdhr3 (MGI:1916014)
chr7	106090505	106112576	7q22.3	7q22.3	616665	SYPL1, SYPL	Synaptophysin-like 1	SYPL1	6856	ENSG00000008282			Sypl1 (MGI:108081)
chr7	106248298	106285888	7q22.2	7q22.3	608764	NAMPT, PBEF1, VF, PBEF	Nicotinamide phosphoribosyltransferase	NAMPT	10135	ENSG00000105835			Nampt (MGI:1929865)
chr7	106865282	106908980	7q22	7q22.3	601232	PIK3CG, IMD97	Phosphatidylinositol 3-kinase, catalytic, gamma	PIK3CG	5294	ENSG00000105851		Immunodeficiency 97 with autoinflammation, 619802 (3), Autosomal recessive	Pik3cg (MGI:1353576)
chr7	107044705	107161811	7q22	7q22.3	176912	PRKAR2B	Protein kinase, cAMP-dependent, regulatory, type II, beta	PRKAR2B	5577	ENSG00000005249			Prkar2b (MGI:97760)
chr7	107169003	107202522	7q22.3	7q22.3	616714	HBP1	HMG-box transcription factor 1	HBP1	26959	ENSG00000105856			Hbp1 (MGI:894659)
chr7	107201372	107563920	7q31	7q22.3	606821	COG5, GOLTC1, GTC90, CDG2I	Component of oligomeric golgi complex 5	COG5	10466	ENSG00000164597		Congenital disorder of glycosylation, type IIi, 613612 (3), Autosomal recessive	Cog5 (MGI:2145130)
chr7	107470057	107477845	7q22-q31.1	7q22.3	601910	GPR22	G protein-coupled receptor-22	GPR22	2845	ENSG00000172209			Gpr22 (MGI:1920260)
chr7	107580007	107623317	7q22.3	7q22.3	619612	BCAP29, BAP29, B29	B-cell receptor-associated protein 29	BCAP29	55973	ENSG00000075790			Bcap29 (MGI:101917)
chr7	107660828	107717809	7q31	7q22.3	605646	SLC26A4, PDS, DFNB4, EVA, TDH2B	Solute carrier family 26 (sulfate transporter), member 4	SLC26A4	5172	ENSG00000091137	some patients have digenic mutations with FOXI1	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3), Autosomal recessive; Pendred syndrome, 274600 (3), Autosomal recessive	Slc26a4 (MGI:1346029)
chr7	107744142	107761667	7q22.3	7q22.3	606872	CBLL1, HAKAI, RNF188	Cas-Br-M murine ectopic retroviral transforming sequence like-1	CBLL1	79872	ENSG00000105879			Cbll1 (MGI:2144842)
chr7	107765469	107803223	7q22-q31.1	7q22.3-q31.1	126650	SLC26A3, DRA, CLD	Solute carrier family 26 (sulfate transporter), member 3	SLC26A3	1811	ENSG00000091138	5' and close to PDS	Diarrhea 1, secretory chloride, congenital, 214700 (3), Autosomal recessive	Slc26a3 (MGI:107181)
chr7	107800001	127500000	7q31		611015	AUTS9	Autism, susceptibility to, 9				max lod near D7S530	{Autism, susceptibility to, 9}, 611015 (2)	
chr7	107800001	127500000	7q31		603678	DFNB14	Deafness, autosomal recessive 14		1706		?same as DFNB17	Deafness, autosomal recessive 14, 603678 (2), Autosomal recessive	
chr7	107800001	127500000	7q31		603010	DFNB17	Deafness, autosomal recessive 17		1709			Deafness, autosomal recessive 17, 603010 (2), Autosomal recessive	
chr7	107891107	107921198	7q31-q32	7q31.1	238331	DLD, LAD, PHE3, DLDD	Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex)	DLD	1738	ENSG00000091140		Dihydrolipoamide dehydrogenase deficiency, 246900 (3), Autosomal recessive	Dld (MGI:107450)
chr7	107923799	108003161	7q31.1-q31.3	7q31.1	150240	LAMB1, LIS5	Laminin, beta-1	LAMB1	3912	ENSG00000091136		Lissencephaly 5, 615191 (3), Autosomal recessive	Lamb1 (MGI:96743)
chr7	108011662	108130361	7q31.1	7q31.1	616380	LAMB4	Laminin, beta-4	LAMB4	22798	ENSG00000091128			
chr7	108147649	108456720	7q31.1-q31.2	7q31.1	601581	NRCAM, NEDNMS	Neuronal cell adhesion molecule	NRCAM	4897	ENSG00000091129		Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, 619833 (3), Autosomal recessive	Nrcam (MGI:104750)
chr7	108470417	108528178	7q31	7q31.1	612123	PNPLA8, MMLA	Patatin-like phospholipase domain-containing protein 8	PNPLA8	50640	ENSG00000135241	mutation identified in 1 MMLA family	?Mitochondrial myopathy with lactic acidosis, 251950 (3), Autosomal recessive	Pnpla8 (MGI:1914702)
chr7	108541759	108569768	7q31.1	7q31.1	612534	THAP5	THAP domain-containing protein 5	THAP5	168451	ENSG00000177683			
chr7	108569874	108574850	7q31.1	7q31.1	602634	DNAJB9, MDG1	DnaJ, E. coli, homolog of, subfamily B, member 9 (microvascular endothelial differentiation gene-1)	DNAJB9	4189	ENSG00000128590	previously assigned to chr.14 by FISH		Dnajb9 (MGI:1351618)
chr7	110662644	111562492	7q31	7q31.1	605977	IMMP2L, IMP2	Inner mitochondrial membrane peptidase, subunit 2	IMMP2L	83943	ENSG00000184903			Immp2l (MGI:2135611)
chr7	111091127	111125454	7q31.1	7q31.1	619748	LRRN3, NLRR3	Leucine-rich repeat neuronal protein 3	LRRN3	54674	ENSG00000173114			Lrrn3 (MGI:106036)
chr7	111726110	112206399	7q31	7q31.1	607679	DOCK4, KIAA0716	Dedicator of cytokinesis 4	DOCK4	9732	ENSG00000128512			Dock4 (MGI:1918006)
chr7	112206695	112343934	7q31.1	7q31.1	605465	ZNF277	Zinc finger protein-277	ZNF277	11179	ENSG00000198839			Zfp277 (MGI:1890393)
chr7	112423174	112477203	7q22-q31	7q31.1	603502	IFRD1	Interferon-related developmental regulator 1	IFRD1	3475	ENSG00000006652			Ifrd1 (MGI:1316717)
chr7	112819147	112939875	7q31.1	7q31.1	617855	BMT2, SAMTOR, C7orf60	Base methyltransferase of 25S rRNA 2 homolog	SAMTOR	154743	ENSG00000164603			Samtor (MGI:2141466)
chr7	113082285	113087724	7q31	7q31.1	605188	GPR85, SREB2	G protein-coupled receptor-85	GPR85	54329	ENSG00000164604			Gpr85 (MGI:1927851)
chr7	113876777	113919009	7q11.23-q21.11	7q31.1	600917	PPP1R3A, PPP1R3	Protein phosphatase 1, regulatory subunit 3A	PPP1R3A	5506	ENSG00000154415		Insulin resistance, severe, digenic, 125853 (3), Autosomal dominant	Ppp1r3a (MGI:2153588)
chr7	114086327	114693765	7q31	7q31.1	605317	FOXP2, SPCH1, TNRC10, CAGH44	Forkhead box P2	FOXP2	93986	ENSG00000128573		Speech-language disorder-1, 602081 (3), Autosomal dominant	Foxp2 (MGI:2148705)
chr7	114922094	115019917	7q31.1	7q31.1-q31.2	614511	MDFIC, HIC, LMPHM12	MYOD family inhibitor domain-containing protein	MDFIC	29969	ENSG00000135272		Lymphatic malformation 12, 620014 (3), Autosomal recessive	Mdfic (MGI:104611)
chr7	115935152	116159896	7q31.2	7q31.2	604732	TFEC, TFECL	Transcription factor EC	TFEC	22797	ENSG00000105967			Tfec (MGI:1333760)
chr7	116210539	116258783	7q31.2	7q31.2	606085	TES	Testin	TES	26136	ENSG00000135269			Tes,Tesl1,Tesl2 (MGI:105081,MGI:3648288,MGI:3648554)
chr7	116499738	116508541	7q31.1	7q31.2	601048	CAV2	Caveolin-2	CAV2	858	ENSG00000105971			Cav2 (MGI:107571)
chr7	116525009	116561185	7q31.1	7q31.2	601047	CAV1, BSCL3, CGL3, PPH3, LCCNS	Caveolin-1	CAV1	857	ENSG00000105974		Lipodystrophy, congenital generalized, type 3, 612526 (3), Autosomal recessive; Pulmonary hypertension, primary, 3, 615343 (3), Autosomal dominant; Lipodystrophy, familial partial, type 7, 606721 (3), Autosomal dominant	Cav1 (MGI:102709)
chr7	116672196	116798377	7q31	7q31.2	164860	MET, DFNB97, OSFD, DA11	MET protooncogene, receptor tyrosine kinase	MET	4233	ENSG00000105976	mutation identified in 1 DFNB97 family and 1 DA11 family	Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3); ?Arthrogryposis, distal, type 11, 620019 (3), Autosomal dominant; Hepatocellular carcinoma, childhood type, somatic, 114550 (3); {Osteofibrous dysplasia, susceptibility to}, 607278 (3), Autosomal dominant; ?Deafness, autosomal recessive 97, 616705 (3), Autosomal recessive	Met (MGI:96969)
chr7	116862587	116922049	7q31.2-q31.3	7q31.2	601571	CAPZA2, CAPPA2	Capping protein (actin filament) muscle Z-line, alpha 2	CAPZA2	830	ENSG00000198898			Capza2 (MGI:106222)
chr7	116953501	117230176	7q31.1	7q31.2	600833	ST7, TSG7, RAY1, FAM4A1	Suppressor of tumorigenicity 7 (breast)	ST7	7982	ENSG00000004866			St7 (MGI:1927450)
chr7	117275451	117323058	7q31	7q31.2	147870	WNT2, INT1L1	Wingless-type MMTV integration site family, member 2	WNT2	7472	ENSG00000105989	isolated by CMGT with MET		Wnt2 (MGI:98954)
chr7	117363222	117427493	7q31.3	7q31.2	605797	ASZ1, ALP1, ANKL1, GASZ	Ankyrin repeat, SAM, and basic leucine zipper domain-containing 1	ASZ1	136991	ENSG00000154438			Asz1 (MGI:1921318)
chr7	117480025	117668665	7q31.2	7q31.2	602421	CFTR, ABCC7, CF, MRP7	Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette, subfamily C, member 7)	CFTR	1080	ENSG00000001626	distal and 5' to MET	Cystic fibrosis, 219700 (3), Autosomal recessive; Sweat chloride elevation without CF (3); Congenital bilateral absence of vas deferens, 277180 (3), Autosomal recessive; {Pancreatitis, hereditary}, 167800 (3), Autosomal dominant; {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3), Autosomal dominant; {Hypertrypsinemia, neonatal} (3)	Cftr (MGI:88388)
chr7	117700001	127500000	7q31.3		606256	STQTL2	Stature quantitative trait locus 2		192143		max lod at D7S195	{Stature QTL 2}, 606256 (2)	
chr7	117710651	117873441	7q31	7q31.31	609772	CTTNBP2, CORTBP2, KIAA1758	Cortactin-binding protein 2	CTTNBP2	83992	ENSG00000077063			Cttnbp2 (MGI:1353467)
chr7	118184164	118204035	7q31.31	7q31.31	607288	LSM8	LSM8 homolog, U6 small nuclear RNA associated	LSM8	51691	ENSG00000128534			Lsm8 (MGI:1923772)
chr7	118224704	118242732	7q31.3	7q31.31	610731	ANKRD7	Ankyrin repeat domain-containing protein 7	ANKRD7	56311	ENSG00000106013			Ankrd7 (MGI:1922446)
chr7	120272908	120750337	7q31	7q31.31	605410	KCND2, KIAA1044	Potassium voltage-gated channel, Shal-related subfamily, member 2	KCND2	3751	ENSG00000184408			Kcnd2 (MGI:102663)
chr7	120787320	120858335	7q31	7q31.31	613138	TSPAN12, NET2, EVR5	Tetraspanin 12	TSPAN12	23554	ENSG00000106025		Exudative vitreoretinopathy 5, 613310 (3), Autosomal dominant	Tspan12 (MGI:1889818)
chr7	120950777	120977216	7q31	7q31.31	607493	ING3, P47ING3	Inhibitor of growth family, member 3	ING3	54556	ENSG00000071243			Ing3 (MGI:1919027)
chr7	120988711	121297442	7q31.31	7q31.31	620637	CPED1, C7orf58	Cadherin-like domain- and PC-esterase domain-containing protein 1	CPED1	79974	ENSG00000106034			Cped1 (MGI:2444814)
chr7	121325367	121341104	7q31.3	7q31.31	606267	WNT16	Wingless-type MMTV integration site family, member 16	WNT16	51384	ENSG00000002745			Wnt16 (MGI:2136018)
chr7	121348878	121396396	7q31.3	7q31.31	608618	FAM3C	Family with sequence similarity 3, member C	FAM3C	10447	ENSG00000196937			Fam3c (MGI:107892)
chr7	121873161	122062036	7q31.3	7q31.32	176891	PTPRZ1, PTP18	Protein-tyrosine phosphatase, receptor-type, zeta-1, polypeptide	PTPRZ1	5803	ENSG00000106278			Ptprz1 (MGI:97816)
chr7	122073549	122144249	7q31.3	7q31.32	605113	AASS	Alpha-aminoadipic semialdehyde synthase	AASS	10157	ENSG00000008311		Hyperlysinemia, 238700 (3), Autosomal recessive	Aass (MGI:1353573)
chr7	122301303	122310723	7q31.32	7q31.32	613301	FEZF1, FEZ, ZNF312B, HH22	FEZ family zinc finger protein 1	FEZF1	389549	ENSG00000128610		Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3), Autosomal recessive	Fezf1 (MGI:1920441)
chr7	122318411	122886460	7q31.3	7q31.32	609978	CADPS2, KIAA1591	Calcium-dependent activator protein for secretion 2	CADPS2	93664	ENSG00000081803			Cadps2 (MGI:2443963)
chr7	122697735	122699117	7q31.32	7q31.32	620556	RNF133	RING finger protein 133	RNF133	168433	ENSG00000188050			Rnf133 (MGI:2677436)
chr7	122994704	122995700	7q31	7q31.32	604867	TAS2R16, T2R16, BGLPT	Taste receptor type 2, member 16	TAS2R16	50833	ENSG00000128519		{Alcohol dependence, susceptibility to}, 103780 (3), Multifactorial; [Beta-glycopyranoside tasting], 617956 (3), Autosomal dominant	Tas2r118 (MGI:2681247)
chr7	123113531	123199971	7q31-q32	7q31.32	606193	SLC13A1, NAS1	Solute carrier family 13 (sodium/sulfate symporters), member 1	SLC13A1	6561	ENSG00000081800			Slc13a1 (MGI:1859937)
chr7	123452193	123534595	7q31.32	7q31.32	620557	IQUB, TRS4	IQ motif- and ubiquitin domain-containing protein	IQUB	154865	ENSG00000164675			Iqub (MGI:3041159)
chr7	123536997	123601651	7q32	7q31.32	601677	NDUFA5, UQOR13	NADH-ubiquinone oxidoreductase subunit A5	NDUFA5	4698	ENSG00000128609			Ndufa5 (MGI:1915452)
chr7	123567008	123639481	7q31.31	7q31.32	619757	ASB15	Ankyrin repeat- and SOCS box-containing protein 15	ASB15	142685	ENSG00000146809			Asb15 (MGI:1926160)
chr7	123655866	123664290	7q31.32	7q31.32	608006	LMOD2, CLMOD, CMD2G	Leiomodin 2	LMOD2	442721	ENSG00000170807		Cardiomyopathy, dilated, 2G, 619897 (3), Autosomal recessive	Lmod2 (MGI:2135672)
chr7	123681943	123749003	7q31.3	7q31.32	605056	WASL, NWASP	WASP-like actin nucleation-promoting factor	WASL	8976	ENSG00000106299			Wasl (MGI:1920428)
chr7	123763708	123877481	7q31	7q31.32	604510	HYAL4	Hyaluronoglucosaminidase 4	HYAL4	23553	ENSG00000106302			Hyal4 (MGI:1924292)
chr7	123925241	123971414	7q31	7q31.32	600930	SPAM1	Sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	SPAM1	6677	ENSG00000106304			Hyal5,Spam1 (MGI:109335,MGI:1921718)
chr7	124743885	124765792	7q31	7q31.33	602583	GPR37	G protein-coupled receptor-37	GPR37	2861	ENSG00000170775			Gpr37 (MGI:1313297)
chr7	124822386	124929825	7q31.33	7q31.33	606478	POT1, PFBMFT8, CRMCC3, TPDS3	Protection of telomeres 1	POT1	25913	ENSG00000128513	mutation identified in 1 PFBMFT8 family and 1 CRMCC3 family	Tumor predisposition syndrome 3, 615848 (3), Autosomal dominant; ?Cerebroretinal microangiopathy with calcifications and cysts 3, 620368 (3), Autosomal recessive; ?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8, 620367 (3), Autosomal dominant	Pot1a,Pot1b (MGI:1920086,MGI:2141503)
chr7	126438598	127252941	7q31.3-q32.1	7q31.33	601116	GRM8	Glutamate receptor, metabotropic-8	GRM8	2918	ENSG00000179603			Grm8 (MGI:1351345)
chr7	127342859	127392708	7q31.33	7q31.33	621007	ZNF800	Zinc finger protein 800	ZNF800	168850	ENSG00000048405			Zfp800 (MGI:1889334)
chr7	127500001	132900000	7q32		613063	BCC6	Basal cell carcinoma, susceptibility to, 6		100307123		associated with rs157935	{Basal cell carcinoma, susceptibility to, 6}, 613063 (2)	
chr7	127500001	132900000	7q32		600676	CATR1	CATR tumorigenic conversion 1	CATR1	856				
chr7	127500001	132900000	7q32		614220	PBC4	Biliary cirrhosis, primary, 4		100689215		associated with rs10488631	Biliary cirrhosis, primary, 4, 614220 (2)	
chr7	127500001	132900000	7q32		609573	PPR3	Photoparoxysmal response 3		619471		max lod at D7S1804	Photoparoxysmal response 3, 609573 (2)	
chr7	127500001	138500000	7q32-q33		613909	SCA32	Spinocerebellar ataxia 32				between rs3847110 and rs2241728	Spinocerebellar ataxia 32, 613909 (2), Autosomal dominant	
chr7	127580628	127585596	7q32.1	7q32.1	607418	GCC1, GCC88	GRIP and coiled-coil domains-containing protein 1	GCC1	79571	ENSG00000179562			Gcc1 (MGI:1921625)
chr7	127588411	127591700	7q31.3	7q32.1	103188	ARF5	ADP-ribosylation factor 5	ARF5	381	ENSG00000004059			Arf5 (MGI:99434)
chr7	127593736	127602144	7q31.3	7q32.1	615800	FSCN3	Fascin actin-bundling protein 3, testicular	FSCN3	29999	ENSG00000106328			Fscn3 (MGI:1890386)
chr7	127610292	127618142	7q32	7q32.1	167413	PAX4, MODY9, KPD	Paired box homeotic gene-4	PAX4	5078	ENSG00000106331		{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3), Autosomal recessive, Autosomal dominant; Maturity-onset diabetes of the young, type IX, 612225 (3); Diabetes mellitus, type 2, 125853 (3), Autosomal dominant	Pax4 (MGI:97488)
chr7	127652194	128092593	7q31.3	7q32.1	602181	P100, SND1	EBNA-2 coactivator p100	SND1	27044	ENSG00000197157			Snd1 (MGI:1929266)
chr7	128027071	128032128	7q32.1	7q32.1	610486	LRRC4	Leucine-rich repeat-containing protein 4	LRRC4	64101	ENSG00000128594			Lrrc4 (MGI:2182081)
chr7	128241278	128257629	7q31.3	7q32.1	164160	LEP, OB, LEPD	Leptin (murine obesity homolog)	LEP	3952	ENSG00000174697	in mouse cen-Cola-2-Met-ob-Cpa-Tcrb-tel	Obesity, morbid, due to leptin deficiency, 614962 (3), Autosomal recessive	Lep (MGI:104663)
chr7	128297685	128343908	7q32.1	7q32.1	612074	RBM28, ANES	RNA-binding motif protein 28	RBM28	55131	ENSG00000106344	mutation identified in 1 ANES family	?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3), Autosomal recessive	Rbm28 (MGI:2655711)
chr7	128392277	128409982	7q31.3-q32	7q32.1	146690	IMPDH1, RP10, LCA11	Inosine-5'-monophosphate dehydrogenase, type I	IMPDH1	3614	ENSG00000106348	pseudogene on 16p13.13	Retinitis pigmentosa 10, 180105 (3), Autosomal dominant; Leber congenital amaurosis 11, 613837 (3), Autosomal dominant	Impdh1 (MGI:96567)
chr7	128455878	128458418	7q32.1	7q32.1	617905	HILPDA, HIG2	Hypoxia-inducible lipid droplet-associated protein	HILPDA	29923	ENSG00000135245			Hilpda (MGI:1916823)
chr7	128476748	128506602	7q32.1	7q32.1	607846	METTL2B, METL	Methyltransferase 2B, methylcytidine	METTL2B	55798	ENSG00000165055			Mettl2 (MGI:1289171)
chr7	128671629	128709166	7q32.1	7q32.1	619904	GARIN1A, GARI, FAM71F2	Golgi-associated Rab2 interactor 1A	GARIN1A	346653	ENSG00000205085			Garin1a (MGI:2141439)
chr7	128709061	128731743	7q32.1	7q32.1	619905	GARIN1B, GARIL1, FAM71F1	Golgi-associated Rab2 interactor 1B	GARIN1B	84691	ENSG00000135248			Garin1b (MGI:3032524)
chr7	128739359	128773400	7q32	7q32.1	603420	CALU	Calumenin	CALU	813	ENSG00000128595			Calu (MGI:1097158)
chr7	128772485	128775794	7q31.3-q32	7q32.1	613522	OPN1SW, BCP, CBT	Blue cone pigment (opsin 1, short-wave-sensitive)	OPN1SW	611	ENSG00000128617		Colorblindness, tritan, 190900 (3), Autosomal dominant	Opn1sw (MGI:99438)
chr7	128790761	128822130	7q31-q32	7q32.1	611902	CCDC136, NAG6, KIAA1793	Coiled-coil domain-containing protein 136	CCDC136	64753	ENSG00000128596			Ccdc136 (MGI:1918128)
chr7	128830406	128859272	7q32	7q32.1	102565	FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5, ARVC15	Filamin C (actin-binding protein-280)	FLNC	2318	ENSG00000128591		Cardiomyopathy, familial hypertrophic, 26, 617047 (3), Autosomal dominant; Arrhythmogenic right ventricular dysplasia, familial, 617047 (3), Autosomal dominant; Cardiomyopathy, familial restrictive 5, 617047 (3), Autosomal dominant; Myopathy, distal, 4, 614065 (3), Autosomal dominant; Myopathy, myofibrillar, 5, 609524 (3), Autosomal dominant	Flnc (MGI:95557)
chr7	128862856	128865847	7q32.1	7q32.1	607160	ATP6V1F	ATPase, H+ transporting, lysosomal, 14kD, V1 subunit F	ATP6V1F	9296	ENSG00000128524			Atp6v1f (MGI:1913394)
chr7	128876865	128910709	7q32.3	7q32.1	609344	KCP	Kielin/chordin-like protein	KCP	375616	ENSG00000135253			Kcp (MGI:2141640)
chr7	128937032	128950038	7q32	7q32.1	607218	IRF5, IBD14, SLEB10	Interferon regulatory factor 5	IRF5	3663	ENSG00000128604		{Inflammatory bowel disease 14}, 612245 (3); {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)	Irf5 (MGI:1350924)
chr7	128954185	129056193	7q32.1	7q32.1	610032	TNPO3, TRNSR, LGMDD2	Transportin 3	TNPO3	23534	ENSG00000064419		Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3), Autosomal dominant	Tnpo3 (MGI:1196412)
chr7	129144707	129169699	7q32.1	7q32.1	610120	TSPAN33, PEN	Tetraspanin 33	TSPAN33	340348	ENSG00000158457			Tspan33 (MGI:1919012)
chr7	129188633	129213545	7q31-q32	7q32.1	601500	SMO, SMOH, CRJS, PHLS	Smoothened, frizzled class receptor	SMO	6608	ENSG00000128602		Pallister-Hall-like syndrome, 241800 (3), Autosomal recessive; Basal cell carcinoma, somatic, 605462 (3); Curry-Jones syndrome, somatic mosaic, 601707 (3)	Smo (MGI:108075)
chr7	129225030	129430211	7q32.1	7q32.1	616520	AHCYL2	Adenosylhomocysteinase-like 2	AHCYL2	23382	ENSG00000158467			Ahcyl2 (MGI:1921590)
chr7	129434432	129488399	7q32.1	7q32.1	617919	STRIP2, FAR11B, FAM40B	Striatin-interacting protein 2	STRIP2	57464	ENSG00000128578			Strip2 (MGI:2444363)
chr7	129600001	152800000	7q32.2-q36.1		146450	HYSP3	Hypospadias 3, autosomal		100689211		between D7S2519 and D7S2442.	Hypospadias 3, autosomal, 146450 (2), Multifactorial, Autosomal dominant	
chr7	129611720	129757076	7q32	7q32.2	600879	NRF1	Nuclear respiratory factor 1	NRF1	4899	ENSG00000106459	earlier location = 7q31		Nrf1 (MGI:1332235)
chr7	129770383	129770492	7q32.2	7q32.2	611607	MIR182, MIRN182	Micro RNA 182	MIR182	406958	ENSG00000207990			Mir182 (MGI:2676846)
chr7	129774692	129774769	7q32.2	7q32.2	611606	MIR96, MIRN96, DFNA50	Micro RNA 96	MIR96	407053	ENSG00000199158		Deafness, autosomal dominant 50, 613074 (3), Autosomal dominant	Mir96 (MGI:3619440)
chr7	129774905	129775014	7q32.2	7q32.2	611608	MIR183, MIRN183	Micro RNA 183	MIR183	406959	ENSG00000207691			Mir183 (MGI:2676847)
chr7	129830732	129952960	7q32	7q32.2	601082	UBE2H, UBCH2, UBC8	Ubiquitin-conjugating enzyme E2 H	UBE2H	7328	ENSG00000186591			Ube2h (MGI:104632)
chr7	130018286	130051451	7q32.2	7q32.2	619746	ZC3HC1, NIPA	Zinc finger C3HC-type domain-containing protein 1	ZC3HC1	51530	ENSG00000091732			Zc3hc1 (MGI:1916023)
chr7	130070534	130135705	7q32.2	7q32.2	615152	KLHDC10, SLIM	Kelch domain-containing protein 10	KLHDC10	23008	ENSG00000128607			Klhdc10 (MGI:1924038)
chr7	130266863	130289798	7q32	7q32.2	600688	CPA2	Carboxypeptidase A2, pancreatic	CPA2	1358	ENSG00000158516			Cpa2 (MGI:3617840)
chr7	130293161	130324180	7q32	7q32.2	607635	CPA4, CPA3	Carboxypeptidase A4	CPA4	51200	ENSG00000128510			Cpa4 (MGI:1919041)
chr7	130344816	130374599	7q32.2	7q32.2	609561	CPA5	Carboxypeptidase A5	CPA5	93979	ENSG00000158525			Cpa5 (MGI:1921899)
chr7	130380494	130388108	7q32-qter	7q32.2	114850	CPA1	Carboxypeptidase A	CPA1	1357	ENSG00000091704	both CPA and TRY1 = serine proteases		Cpa1 (MGI:88478)
chr7	130393771	130441741	7q32	7q32.2	610523	CEP41, TSGA14, JBTS15	Centrosomal protein, 41kD	CEP41	95681	ENSG00000106477		Joubert syndrome 15, 614464 (3), Autosomal recessive	Cep41 (MGI:1891414)
chr7	130486042	130490977	7q32.2	7q32.2	607794	MESTIT1	MEST intronic transcript 1	MESTIT1	317751	ENSG00000272701			
chr7	130486175	130506465	7q32	7q32.2	601029	MEST, PEG1	Mesoderm specific transcript, mouse, homolog of	MEST	4232	ENSG00000106484	imprinted maternally		Mest (MGI:96968)
chr7	130496111	130496204	7q32.2	7q32.2	611768	MIR335	Micro RNA 335	MIR335	442904	ENSG00000199043			Mir335 (MGI:3619348)
chr7	130506238	130668748	7q32	7q32.2	604355	COPG2	Coatomer protein complex, subunit gamma-2	COPG2	26958	ENSG00000158623			Copg2 (MGI:1858683)
chr7	130543453	130546900	7q32	7q32.2	610581	COPG2IT1, CIT1	Coatomer protein complex, subunit gamma-2, intronic transcript 1	COPG2IT1	53844				
chr7	130730697	130734207	7q32.2	7q32.2	609393	LKF14, BTEB5	Kruppel-like factor 14	KLF14	136259	ENSG00000266265			Klf14 (MGI:3577024)
chr7	130800001	132900000	7q32.3		606641	BMIQ1	Body mass index quantitative trait locus 1		170815		max lod at D7S1804	[Body mass index QTL1], 606641 (2)	
chr7	130876747	130876810	7q32.3	7q32.3	610782	MIR29A, MIRN29A	Micro RNA 29A	MIR29A	407021	ENSG00000284032			Mir29a (MGI:2676904)
chr7	130877459	130877539	7q32.3	7q32.3	610783	MIR29B1, MIRN29B1	Micro RNA 29B1	MIR29B1	407024	ENSG00000283797			Mir29b-1 (MGI:2676905)
chr7	130877562	131109925	7q32.3	7q32.3	618212	LINC-PINT, PINT	Long intergenic noncoding RNA, p53-induced transcript	LINC-PINT	378805	ENSG00000231721			Lncpint (MGI:2673128)
chr7	131110094	131496632	7q32	7q32.3	605623	MKLN1	Muskelin 1	MKLN1	4289	ENSG00000128585			Mkln1 (MGI:1351638)
chr7	131500271	131556628	7q32-q33	7q32.3	602632	PODXL, PCLP	Podocalyxin-like	PODXL	5420	ENSG00000128567			Podxl (MGI:1351317)
chr7	132123340	132648688	7q32.3	7q32.3	604280	PLXNA4	Plexin A4	PLXNA4	91584	ENSG00000221866			Plxna4 (MGI:2179061)
chr7	132784870	133082090	7q32.3-q33	7q32.3-q33	613748	CHCHD3	Coiled-coil-helix-coiled-coil-helix domain-containing protein 3	CHCHD3	54927	ENSG00000106554			Chchd3 (MGI:1913325)
chr7	132900001	138500000	7q33		611050	LUZP6, MPD6	Leucine zipper protein 6		767558				
chr7	133253078	134100951	7q31	7q33	608185	EXOC4, SEC8, KIAA1699	Exocyst complex component 4	EXOC4	60412	ENSG00000131558			Exoc4 (MGI:1096376)
chr7	134127340	134276685	7q33	7q33	616478	LRGUK	Leucine-rich repeats- and guanylate kinase domain-containing protein	LRGUK	136332	ENSG00000155530			Lrguk (MGI:1921604)
chr7	134289332	134320338	7q33	7q33	610923	SLC35B4	Solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	SLC35B4	84912	ENSG00000205060			Slc35b4 (MGI:1931249)
chr7	134442350	134459239	7q35	7q33	103880	AKR1B1, ALDR1	Aldo-keto reductase family 1, member B1	AKR1B1	231	ENSG00000085662			Akr1b1 (MGI:1353494)
chr7	134527567	134541412	7q33	7q33	604707	AKR1B10, ARL1	Aldo-keto reductase family 1, member B10	AKR1B10	57016	ENSG00000198074			Akr1b10,Akr1b7,Akr1b8 (MGI:101918,MGI:107673,MGI:1915111)
chr7	134549110	134579869	7q33	7q33	616336	AKR1B15, AKR1B10L, AKR1R1B7	Aldo-keto reductase family 1, member B15	AKR1B15	441282	ENSG00000227471			Akr1b10,Akr1b7,Akr1b8 (MGI:101918,MGI:107673,MGI:1915111)
chr7	134646853	134679816	7q31-q34	7q33	613896	BPGM, ECYT8	2,3-bisphosphoglycerate mutase	BPGM	669	ENSG00000172331		Erythrocytosis, familial, 8, 222800 (3), Autosomal recessive	Bpgm (MGI:1098242)
chr7	134745467	134970729	7q33	7q33	114213	CALD1, CDM	Caldesmon-1	CALD1	800	ENSG00000122786			Cald1 (MGI:88250)
chr7	134986508	135135778	7q33	7q33	617346	AGBL3, CCP3	ATP/GTP-binding protein-like 3	AGBL3	340351	ENSG00000146856			Agbl3 (MGI:1923473)
chr7	135092303	135172469	7q33	7q33	616980	CYREN, C7orf49, MRI	Cell cycle regulator of nonhomologous end joining	CYREN	78996	ENSG00000122783			Cyren (MGI:1925662)
chr7	135183839	135211526	7q33	7q33	616303	WDR91, SORF1	WD repeat-containing protein 91	WDR91	29062	ENSG00000105875			Wdr91 (MGI:2141558)
chr7	135231915	135258663	7q31	7q33	609987	STRA8	Stimulated by retinoic acid 8, mouse, homolog of	STRA8	346673	ENSG00000146857			Stra8 (MGI:107917)
chr7	135361795	135510102	7q22-qter	7q33	604911	CNOT4, NOT4	CCR4-NOT transcription complex, subunit 4	CNOT4	4850	ENSG00000080802			Cnot4 (MGI:1859026)
chr7	135557917	135648753	7q33	7q33	614352	NUP205, C7orf14, KIAA0225, NPHS13	Nucleoporin, 205kD	NUP205	23165	ENSG00000155561	mutation identified in 1 NPHS13 family	?Nephrotic syndrome, type 13, 616893 (3), Autosomal recessive	Nup205 (MGI:2141625)
chr7	135662514	135676416	7q33	7q33	618755	STMP1, C7orf73, MM47	Short transmembrane mitochondrial protein 1	STMP1	647087	ENSG00000243317			Stmp1 (MGI:1914955)
chr7	135681231	135728186	7q33	7q33	604309	SLC13A4, SUT1	Solute carrier family 13 (sodium/sulfate symporters), member 4 (sulfate transporter 1)	SLC13A4	26266	ENSG00000164707			Slc13a4 (MGI:2442367)
chr7	135926760	135977359	7q33-q35	7q33	606484	MTPN	Myotrophin	MTPN	136319	ENSG00000105887			Mtpn (MGI:99445)
chr7	136868652	137020213	7q35-q36	7q33	118493	CHRM2	Cholinergic receptor, muscarinic, 2	CHRM2	1129	ENSG00000181072			Chrm2 (MGI:88397)
chr7	136903167	136903294	7q33	7q33	616972	MIR490	Micro RNA 490	MIR490	574443	ENSG00000207597			Mir490 (MGI:3629662)
chr7	137227341	137343733	7q33	7q33	162095	PTN, NEGF1	Pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1)	PTN	5764	ENSG00000105894			Ptn (MGI:97804)
chr7	137381037	137846974	7q32.3-q33	7q33	604072	DGKI	Diacylglycerol kinase, iota, 130-kD	DGKI	9162	ENSG00000157680			Dgki (MGI:2443430)
chr7	137874979	138002086	7q33	7q33	608834	CREB3L2, BBF2H7	cAMP response element-binding protein 3-like 2	CREB3L2	64764	ENSG00000182158			Creb3l2 (MGI:2442695)
chr7	138076459	138118305	7q32-q33	7q33	604741	AKR1D1, SRD5B1, CBAS2	Bile acid synthesis defect, congenital, 2	AKR1D1	6718	ENSG00000122787		Bile acid synthesis defect, congenital, 2, 235555 (3), Autosomal recessive	Akr1d1 (MGI:2384785)
chr7	138460259	138589996	7q32-q34	7q33-q34	603406	TRIM24, TIF1, TIF1A, PTC6	Tripartite motif-containing protein 24 (Transcriptional intermediary factor 1)	TRIM24	8805	ENSG00000122779	fused with RET to form PTC6		Trim24 (MGI:109275)
chr7	138500001	143400000	7q34		614158	BDPLT14	Bleeding disorder, platelet-type, 14		116814566			Bleeding disorder, platelet-type, 14, 614158 (2), Autosomal dominant	
chr7	138500001	159345973	7q34-q36		603098	DFNB13	Deafness, autosomal recessive 13		1705			Deafness, autosomal recessive 13, 603098 (2), Autosomal recessive	
chr7	138500001	159345973	7q34-q36		182960	HMND1, DHMN1	Neuronopathy, distal hereditary motor, autosomal dominant 1					Neuronopathy, distal hereditary motor, autosomal dominant 1, 182960 (4), Autosomal dominant	
chr7	138500001	159345973	7q34-q36		605727	OTSC2	Otosclerosis 2		93999			Otosclerosis 2, 605727 (2), Autosomal dominant	
chr7	138500001	143400000	7q34		615449	TRBJ@	T-cell receptor beta chain joining gene cluster						
chr7	138500001	143400000	7q34		615446	TRBV@	T-cell receptor beta chain variable gene cluster						
chr7	138594285	138701362	7q34	7q34	611700	SVOPL	SV2-related protein-like	SVOPL	136306	ENSG00000157703			Svopl (MGI:2444335)
chr7	138706294	138798196	7q33-q34	7q34	605239	ATP6V0A4, ATP6N1B, VPP2, RTA1C, DRTA3	ATPase, H+ transporting, V0 subunit A4	ATP6V0A4	50617	ENSG00000105929		Distal renal tubular acidosis 3, with or without sensorineural hearing loss, 602722 (3), Autosomal recessive	Atp6v0a4 (MGI:2153480)
chr7	138831381	138981389	7q34	7q34	613344	KIAA1549, RP86	KIAA1549 gene	KIAA1549	57670	ENSG00000122778		Retinitis pigmentosa 86, 618613 (3), Autosomal recessive	D630045J12Rik (MGI:2669829)
chr7	139043515	139109720	7q34	7q34	607312	ZC3HAV1, ZAP, FLJ13288, FLB6421	Zinc finger CCCH domain-containing antiviral protein 1	ZC3HAV1	56829	ENSG00000105939			Zc3hav1 (MGI:1926031)
chr7	139133778	139191986	7q34	7q34	617453	TTC26, IFT56, BRENS	Tetratricopeptide repeat domain-containing protein 26	IFT56	79989	ENSG00000105948		Biliary, renal, neurologic, and skeletal syndrome, 619534 (3), Autosomal recessive	Ift56 (MGI:2444853)
chr7	139231237	139330428	7q34	7q34	613841	UBN2	Ubinuclein 2	UBN2	254048	ENSG00000157741			Ubn2 (MGI:2444236)
chr7	139340472	139346328	7q34	7q34	620766	FMC1	Formation of mitochondrial complex V assembly factor 1 homolog	FMC1	154791	ENSG00000164898			Fmc1 (MGI:1913367)
chr7	139340472	139423454	7q34	7q34	613056	LUC7L2	LUC7-like 2 pre-mRNA splicing factor	LUC7L2	51631	ENSG00000146963			Luc7l2 (MGI:2183260)
chr7	139561570	139777998	7q33-q34	7q34	606868	HIPK2	Homeodomain-interacting protein kinase 2	HIPK2	28996	ENSG00000064393			Hipk2 (MGI:1314872)
chr7	139778242	140020293	7q34	7q34	274180	TBXAS1, GHOSAL, CYP5	Thromboxane A synthase 1, platelet	TBXAS1	6916	ENSG00000059377		Ghosal hematodiaphyseal syndrome, 231095 (3), Autosomal recessive	Tbxas1 (MGI:98497)
chr7	140023749	140062951	7q34	7q34	612481	PARP12, ZC3HDC1, FLJ22693	Poly(ADP-ribose) polymerase family, member 12	PARP12	64761	ENSG00000059378			Parp12 (MGI:2143990)
chr7	140084746	140176983	7q34	7q34	619640	KDM7A, JHDM1D, KIAA1718	Lysine demethylase 7A	KDM7A	80853	ENSG00000006459			Kdm7a (MGI:2443388)
chr7	140333752	140398530	7q34	7q34	619137	SLC37A3, SPX3	Solute carrier family 37, member A3	SLC37A3	84255	ENSG00000157800			Slc37a3 (MGI:1919394)
chr7	140453033	140479569	7q34	7q34	607754	MKRN1	Makorin 1	MKRN1	23608	ENSG00000133606			Mkrn1 (MGI:1859353)
chr7	140518419	140641460	7q34	7q34	620120	DENND2A	DENN domain-containing protein 2A	DENND2A	27147	ENSG00000146966			Dennd2a (MGI:2444961)
chr7	140696708	140706643	7q34	7q34	603838	NDUFB2	NADH-ubiquinone oxidoreductase subunit B2	NDUFB2	4708	ENSG00000090266			Ndufb2 (MGI:1915448)
chr7	140713328	140924929	7q34	7q34	164757	BRAF, NS7	B-Raf protooncogene, serine/threonine kinase	BRAF	673	ENSG00000157764	pseudogene BRAF2 on Xq13 or 7q	Melanoma, malignant, somatic, 155600 (3); LEOPARD syndrome 3, 613707 (3), Autosomal dominant; Cardiofaciocutaneous syndrome, 115150 (3), Autosomal dominant; Adenocarcinoma of lung, somatic, 211980 (3); Noonan syndrome 7, 613706 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Nonsmall cell lung cancer, somatic, 211980 (3)	Braf (MGI:88190)
chr7	141002610	141014952	7q32-q34	7q34	611993	MRPS33	Mitochondrial ribosomal protein S33	MRPS33	51650	ENSG00000090263	4 pseudogenes		Mrps33 (MGI:1338046)
chr7	141551410	141655244	7q34	7q34	610345	AGK, MULK, MTDPS10, CATC5, CTRCT38	Acylglycerol kinase	AGK	55750	ENSG00000006530		Cataract 38, autosomal recessive, 614691 (3), Autosomal recessive; Sengers syndrome, 212350 (3), Autosomal recessive	Agk (MGI:1917173)
chr7	141656728	141702166	7q34	7q34	620122	DENND11, KIAA1147	DENN domain-containing protein 11	DENND11	57189	ENSG00000257093			Dennd11 (MGI:2444256)
chr7	141708353	141731271	7q34	7q34	614084	WEE2, WEE1B, OZEMA5	Wee1 homolog 2	WEE2	494551	ENSG00000214102		Oocyte/zygote/embryo maturation arrest 5, 617996 (3), Autosomal recessive	Wee2 (MGI:3027899)
chr7	141738321	141750488	7q34	7q34	600439	SSBP1, SSBP, OPA13	Single-stranded DNA-binding protein 1	SSBP1	6742	ENSG00000106028		Optic atrophy 13 with retinal and foveal abnormalities, 165510 (3), Autosomal dominant	Ssbp1 (MGI:1920040)
chr7	141764097	141765197	7q31.3-q32	7q34	604868	TAS2R3, T2R3	Taste receptor type 2, member 3	TAS2R3	50831	ENSG00000127362			Tas2r137 (MGI:3606604)
chr7	141776674	141781691	7q31.3-q32	7q34	604869	TAS2R4, T2R4	Taste receptor type 2, member 4	TAS2R4	50832	ENSG00000127364			Tas2r108 (MGI:2681210)
chr7	141790217	141791367	7q31.3-q32	7q34	605062	TAS2R5, T2R5	Taste receptor type 2, member 5	TAS2R5	54429	ENSG00000127366			
chr7	141927357	141946974	7q33	7q34	604987	CLEC5A, CLECSF5, MDL1	C-type lectin domain family 5, member A	CLEC5A	23601	ENSG00000258227			Clec5a (MGI:1345151)
chr7	141972631	141973773	7q34	7q34	607751	TAS2R38, T2R61, PTC, THIOT	Taste receptor, type 2, member 38	TAS2R38	5726	ENSG00000257138		[Phenylthiocarbamide tasting], 171200 (3), Autosomal dominant	Tas2r138 (MGI:2681306)
chr7	141986518	142106747	7q34	7q34	154360	MGAM, MGA	Maltase-glucoamylase	MGAM	8972	ENSG00000257335	similar to EST GS1365		Mgam (MGI:1203495)
chr7	142749472	142753072	7q35	7q34	276000	PRSS1, TRY1	Protease, serine, 1 (trypsin 1)	PRSS1	5644	ENSG00000204983	8 trypsinogen genes embedded in TCRB locus	Pancreatitis, hereditary, 167800 (3), Autosomal dominant	Prss1,Prss1l,Prss3,Prss3l,Try10,Try4,Try5 (MGI:102756,MGI:102757,MGI:102758,MGI:3641889,MGI:3646222,MGI:3687012,MGI:98839)
chr7	142770970	142774560	7q35	7q34	601564	PRSS2, TRY2	Protease, serine, 2 (trypsin 2)	PRSS2	5645	ENSG00000275896		{Pancreatitis, chronic, protection against}, 167800 (3), Autosomal dominant	Prss1,Prss1l,Prss2,Prss3,Prss3l,Try10,Try4,Try5 (MGI:102756,MGI:102757,MGI:102758,MGI:102759,MGI:3641889,MGI:3646222,MGI:3687012,MGI:98839)
chr7	142786213	142786224	7q34	7q34	615447	TRBD1	T-cell receptor beta chain diversity gene 1		28637	ENSG00000282431			
chr7	142791694	142793141	7q34	7q34	186930	TRBC1	T-cell receptor beta chain constant region 1		28639	ENSG00000211751			Trbc1,Trbc2 (MGI:4439726,MGI:4835227)
chr7	142795705	142795720	7q34	7q34	615448	TRBD2	T-cell receptor beta chain diversity gene 2		28636	ENSG00000292271			
chr7	142801041	142802529	7q34	7q34	615445	TRBC2	T-cell receptor beta chain constant region 2		28638	ENSG00000211772			Trbc1,Trbc2 (MGI:4439726,MGI:4835227)
chr7	142855076	142871093	7q33-q35	7q34	602757	EPHB6, HEP	Ephrin receptor EPHB6	EPHB6	2051	ENSG00000106123			Ephb6 (MGI:1096338)
chr7	142871208	142885745	7q33-q34	7q34	606680	TRPV6, ECAC2, CAT1, CATL, HRPTTN	Transient receptor potential cation channel, subfamily V, member 6	TRPV6	55503	ENSG00000165125		Hyperparathyroidism, transient neonatal, 618188 (3), Autosomal recessive	Trpv6 (MGI:1927259)
chr7	142908101	142933746	7q35	7q34	606679	TRPV5, ECAC1, CAT2	Transient receptor potential cation channel, subfamily V, member 5	TRPV5	56302	ENSG00000127412			Trpv5 (MGI:2429764)
chr7	142939484	142940868	7q34	7q34	618946	LLCFC1, C7orf34, SOF1	LLLL motif- and CFNLAS motif-containing protein 1	LLCFC1	135927	ENSG00000165131			Llcfc1 (MGI:1923856)
chr7	142941114	142962363	7q33	7q34	613883	KEL	Kell blood group	KEL	3792	ENSG00000197993		[Blood group, Kell], 110900 (3)	Kel (MGI:1346053)
chr7	143132077	143139739	7q32-q36	7q34	176720	PIP	Prolactin-inducible protein	PIP	5304	ENSG00000159763			Pip (MGI:102696)
chr7	143222037	143223079	7q34	7q34	613964	TAS2R40, T2R40	Taste receptor, type 2, member 40	TAS2R40	259286	ENSG00000221937			Tas2r144 (MGI:2681312)
chr7	143263441	143269115	7q34	7q34	602321	GSTK1	Glutathione S-transferase, kappa-1	GSTK1	373156	ENSG00000197448			Gstk1 (MGI:1923513)
chr7	143284899	143288049	7q34	7q34	616524	TMEM139	Transmembrane protein 139	TMEM139	135932	ENSG00000178826			Tmem139 (MGI:1924444)
chr7	143288351	143307696	7q35	7q34	600639	CASP2, NEDD2, ICH1, MRT80	Caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2)	CASP2	835	ENSG00000106144		Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, 620653 (3), Autosomal recessive	Casp2 (MGI:97295)
chr7	143316111	143352083	7q35	7q34	118425	CLCN1	Chloride channel-1, skeletal muscle	CLCN1	1180	ENSG00000188037		Myotonia congenita, recessive, 255700 (3), Autosomal recessive; Myotonia congenita, dominant, 160800 (3), Autosomal dominant; Myotonia levior, 160800 (3), Autosomal dominant	Clcn1 (MGI:88417)
chr7	143353400	143382304	7q34	7q34	619282	FAM131B, KIAA0773	Family with sequence similarity 131, member B	FAM131B	9715	ENSG00000159784			Fam131b (MGI:1923406)
chr7	143381345	143391111	7q34-q35	7q34	602002	ZYX	Zyxin	ZYX	7791	ENSG00000159840			Zyx (MGI:103072)
chr7	143391129	143408856	7q32-q36	7q34-q35	179610	EPHA1, EPHT1	eph tyrosine kinase 1 (erythropoietin-producing hepatoma amplified sequence; oncogene EPH; ephrin receptor EphA1)	EPHA1	2041	ENSG00000146904			Epha1 (MGI:107381)
chr7	143400001	159345973	7q35-q36		600510	OPDG, GPDS1, PDS1	Ocular pigment dispersion with or without glaucoma		7986			Ocular pigment dispersion with or without glaucoma, 600510 (2), Autosomal dominant	
chr7	143400001	159345973	7q35-q36		612514	SLI4	Specific language impairment 4		100233227		associated with rs1723629	{Specific language impairment 4}, 612514 (2)	
chr7	143443453	143444409	7q35	7q35	613968	TAS2R60, T2R60	Taste receptor, type 2, member 60	TAS2R60	338398	ENSG00000185899			Tas2r135 (MGI:2681302)
chr7	143477873	143478796	7q35	7q35	613965	TAS2R41, T2R59	Taste receptor, type 2, member 41	TAS2R41	259287	ENSG00000221855			Tas2r126 (MGI:2681273)
chr7	143620974	143730410	7q35	7q35	616252	TCAF2, FAM115C, FAM139A	TRPM8 channel-associated factor 2	TCAF2	285966	ENSG00000170379			Tcaf2,Tcaf3 (MGI:2385258,MGI:3042585)
chr7	143851375	143902176	7q35	7q35	616251	TCAF1, FAM115A, KIAA0738	TRPM8 channel-associated factor 1	TCAF1	9747	ENSG00000198420			Tcaf1 (MGI:1914665)
chr7	143954844	143964360	7q35	7q35	608497	OR2F1, OLF3	Olfactory receptor, family 2, subfamily F, member 1	OR2F1	26211	ENSG00000213215			Or2f1,Or2f1b (MGI:1313140,MGI:3030287)
chr7	144183466	144186080	7q35	7q35	608910	CTAGE4	Cutaneous T-cell lymphoma-associated antigen 4	CTAGE4	100128553	ENSG00000288784			
chr7	144355402	144380632	7q33-q35	7q35	600888	ARHGEF5, TIM	Rho guanine nucleotide exchange factor-5 (oncogene TIM)	ARHGEF5	7984	ENSG00000050327			Arhgef5 (MGI:1858952)
chr7	144396900	144410227	7q35	7q35	610934	NOBOX, POF5	NOBOX oogenesis homeobox	NOBOX	135935	ENSG00000106410		Premature ovarian failure 5, 611548 (3), Autosomal dominant	Nobox (MGI:108011)
chr7	144451941	144836437	7q34	7q35	606370	TPK1, THMD5	Thiamine pyrophosphokinase	TPK1	27010	ENSG00000196511		Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3), Autosomal recessive	Tpk1 (MGI:1352500)
chr7	146116801	148420998	7q35-q36	7q35-q36.1	604569	CNTNAP2, CASPR2, NRXN4, AUTS15, PTHSL1	Contactin-associated protein-like 2	CNTNAP2	26047	ENSG00000174469		Pitt-Hopkins like syndrome 1, 610042 (3), Autosomal recessive; {Autism susceptibility 15}, 612100 (3)	Cntnap2 (MGI:1914047)
chr7	148200001	159345973	7q36		605967	ACRPS	Acropectoral syndrome		85505			Acropectoral syndrome, 605967 (2), Autosomal dominant	
chr7	148200001	159345973	7q36		609636	AD10	Alzheimer disease-10		780912		max lod with D7S798	Alzheimer disease-10, 609636 (2), Autosomal dominant	
chr7	148200001	159345973	7q36		611016	AUTS10	Autism, susceptibility to, 10				max lod at D7S483	{Autism, susceptibility to, 10}, 611016 (2)	
chr7	148697756	148801110	7q36.1	7q36.1	603134	CUL1	Cullin 1	CUL1	8454	ENSG00000055130			Cul1 (MGI:1349658)
chr7	148807383	148884291	7q35	7q36.1	601573	EZH2, EZH1, WVS	Enhancer of zeste, Drosophila, homolog of, 2	EZH2	2146	ENSG00000106462	pseudogene on 21q22	Weaver syndrome, 277590 (3), Autosomal dominant	Ezh2 (MGI:107940)
chr7	148941488	148941571	7q36	7q36.1	601824	RNY5, Y5	RNA, Y5 small cytoplasmic	RNY5	6090				
chr7	148963315	148963410	7q36	7q36.1	601823	RNY4, Y4	RNA, Y4 small cytoplasmic	RNY4	6086	ENSG00000252316			
chr7	148983755	148983856	7q36	7q36.1	601822	RNY3, Y3	RNA, Y3 small cytoplasmic	RNY3	6085	ENSG00000202354			
chr7	148987136	148987248	7q36	7q36.1	601821	RNY1, Y1	RNA, Y1 small cytoplasmic	RNY1	6084	ENSG00000201098			Rny1 (MGI:97995)
chr7	148987527	148989429	7q36.1	7q36.1	619888	GHET1	Gastric carcinoma proliferation-enhancing transcript 1, noncoding	GHET1	102723099	ENSG00000281189			
chr7	149003051	149028505	7q36.1	7q36.1	620018	PDIA4	Protein disulfide isomerase, family A, member 4	PDIA4	9601	ENSG00000155660			Pdia4 (MGI:104864)
chr7	149102784	149126324	7q36.1	7q36.1	619507	ZNF425	Zinc finger protein 425	ZNF425	155054	ENSG00000204947			
chr7	149126408	149183042	7q36.1	7q36.1	618593	ZNF398, ZER6	Zinc finger protein 398	ZNF398	57541	ENSG00000197024			Zfp398 (MGI:1917856)
chr7	149195546	149226243	7q36.1	7q36.1	603397	ZNF282, HUB1	Zinc finger protein 282	ZNF282	8427	ENSG00000170265			Zfp282 (MGI:2141413)
chr7	149239651	149255606	7q36.1	7q36.1	602386	ZNF212, ZNFC150, ZNF182	Zinc finger protein 212	ZNF212	7988	ENSG00000170260			Zfp212 (MGI:2682609)
chr7	149431363	149461062	7q36.1	7q36.1	619298	ZNF777	Zinc finger protein 777	ZNF777	27153	ENSG00000196453			Zfp777 (MGI:1919556)
chr7	149472696	149497809	7q36.1	7q36.1	613914	ZNF746, PARIS	Zinc finger protein 746	ZNF746	155061	ENSG00000181220			Zfp746 (MGI:1916478)
chr7	149764182	149776530	7q36.1	7q36.1	614040	ZNF467, EZI, ZFP467	Zinc finger protein 467	ZNF467	168544	ENSG00000181444			Zfp467 (MGI:1916160)
chr7	149776042	149833965	7q36.1	7q36.1	617356	SSPOP, SSPO	SCO-spondin, pseudogene	SSPOP	23145	ENSG00000197558			Sspo (MGI:2674311)
chr7	149838375	149867479	7q36.1	7q36.1	620974	ZNF862, GINGF6	Zinc finger protein 862	ZNF862	643641	ENSG00000106479	mutation identified in 1 GINGF6 family	?Fibromatosis, gingival 6, 620999 (3), Autosomal dominant	
chr7	149872964	149880713	7q36	7q36.1	611019	ATP6V0E2	ATPase, H+ transporting, V0 subunit E2	ATP6V0E2	155066	ENSG00000171130			Atp6v0e2 (MGI:1923502)
chr7	150041355	150045372	7q36.1	7q36.1	615171	LOC100134040	LOC100134040 gene		100134040				
chr7	150330183	150332721	7q36.1	7q36.1	615252	ZBED10P, ZBED6CL, C7orf29	Zinc finger BED-type containing 10, pseudogene	ZBED10P	113763				
chr7	150338329	150341629	7q36.1	7q36.1	601973	RARRES2, TIG2	Retinoic acid receptor responder 2	RARRES2	5919	ENSG00000106538			Rarres2 (MGI:1918910)
chr7	150368096	150374039	7q36.1	7q36.1	619039	REPIN1, RIP60, AP4	Replication initiator 1	REPIN1	29803	ENSG00000214022			Repin1 (MGI:1889817)
chr7	150450630	150479393	7q36.1	7q36.1	616962	GIMAP8	GTPase, IMAP family, member 8	GIMAP8	155038	ENSG00000171115			Gimap8 (MGI:2685303)
chr7	150514872	150521073	7q36.1	7q36.1	616961	GIMAP7	GTPase IMAP family, member 7	GIMAP7	168537	ENSG00000179144			Gimap7 (MGI:1349657)
chr7	150567390	150573953	7q36.1	7q36.1	608087	GIMAP4, IMAP4, IAN1	GTPase, IMAP family, member 4	GIMAP4	55303	ENSG00000133574			Gimap4 (MGI:1349656)
chr7	150625375	150632385	7q36.1	7q36.1	616960	GIMAP6	GTPase, IMAP family, member 6	GIMAP6	474344	ENSG00000133561			Gimap6 (MGI:1918876)
chr7	150685706	150693641	7q36.1	7q36.1	608085	GIMAP2, IMAP2	GTPase, IMAP family, member 2	GIMAP2	26157	ENSG00000106560			
chr7	150716613	150724284	7q36.1	7q36.1	608084	GIMAP1, IMAP1	GTPase, IMAP family, member 1	GIMAP1	170575	ENSG00000213203			Gimap1 (MGI:109368)
chr7	150737418	150743646	7q36.1	7q36.1	608086	GIMAP5, IAN4L1, IMAP3, NCPH2	GTPase, IMAP family, member 5	GIMAP5	55340	ENSG00000196329		Portal hypertension, noncirrhotic, 2, 619463 (3), Autosomal recessive	Gimap3,Gimap5 (MGI:1932723,MGI:2442232)
chr7	150791301	150801360	7q36.1	7q36.1	610385	LR8	LR8 protein	TMEM176B	28959	ENSG00000106565			Tmem176b (MGI:1916348)
chr7	150800769	150805118	7q36.1	7q36.1	610334	TEM176A, HCA112, GS188	Transmembrane protein 176A	TMEM176A	55365	ENSG00000002933			Tmem176a (MGI:1913308)
chr7	150852120	150861504	7q31-q32	7q36.1	104610	AOC1, ABP1, DAO1	Amine oxidase, copper-containing, 1	AOC1	26	ENSG00000002726			Aoc1,Aoc1l1,Aoc1l2,Aoc1l3 (MGI:1917011,MGI:1923757,MGI:2682321,MGI:3618290)
chr7	150944961	150978321	7q35-q36	7q36.1	152427	KCNH2, LQT2, HERG, SQT1	Potassium voltage-gated channel, subfamily H, member 2 (human ether-a-go-go-related gene)	KCNH2	3757	ENSG00000055118		Short QT syndrome 1, 609620 (3); Long QT syndrome 2, 613688 (3), Autosomal dominant	Kcnh2 (MGI:1341722)
chr7	150991017	151014588	7q36	7q36.1	163729	NOS3	Nitric oxide synthase 3, endothelial cell	NOS3	4846	ENSG00000164867		{Coronary artery spasm 1, susceptibility to} (3); {Hypertension, susceptibility to}, 145500 (3), Multifactorial; {Placental abruption} (3); {Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant; {Hypertension, pregnancy-induced}, 189800 (3), Autosomal dominant; {Ischemic stroke, susceptibility to}, 601367 (3), Multifactorial	Nos3 (MGI:97362)
chr7	151012209	151024499	7q36.1	7q36.1	612205	ATG9B, NOS3AS, APG9L2, SONE	Autophagy related 9B	ATG9B	285973	ENSG00000181652			Atg9b (MGI:2685420)
chr7	151028450	151047782	7q35-q36	7q36.1	605464	ABCB8, MABC1	ATP-binding cassette, subfamily B, member 8	ABCB8	11194	ENSG00000197150			Abcb8 (MGI:1351667)
chr7	151048292	151052756	7q35	7q36.1	611741	ACCN3, ASIC3, TNAC1, DRASIC	Cation channel, amiloride-sensitive, neuronal 3	ASIC3	9311	ENSG00000213199			Asic3 (MGI:2159339)
chr7	151053815	151057897	7q36	7q36.1	123831	CDK5, LIS7	Cyclin-dependent kinase 5	CDK5	1020	ENSG00000164885	mutation identified in 1 LIS7 family	?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3), Autosomal recessive	Cdk5 (MGI:101765)
chr7	151058200	151076527	7q35-q36	7q36.1	109280	SLC4A2, AE2, EPB3L1, OPTB9	Solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)	SLC4A2	6522	ENSG00000164889	mutation identified in 1 OPTB9 patient	?Osteopetrosis, autosomal recessive 9, 620366 (3), Autosomal recessive	Slc4a2 (MGI:109351)
chr7	151076624	151080809	7q35	7q36.1	606965	FASTK, FAST	Fas-activated serine/threonine kinase	FASTK	10922	ENSG00000164896			Fastk (MGI:1913837)
chr7	151081085	151083493	7q36.1	7q36.1	614792	TMUB1, DULP, SB144, C7orf21	Transmembrane and ubiquitin-like domain-containing protein 1	TMUB1	83590	ENSG00000164897			Tmub1 (MGI:1923764)
chr7	151085867	151144434	7q36.1	7q36.1	616813	AGAP3, CENTG3, CRAG	ARF GTPase-activating protein with GTPase domain, ankyrin repeat, and pleckstrin homology domain 3	AGAP3	116988	ENSG00000133612			Agap3 (MGI:2183446)
chr7	151148009	151167694	7q36	7q36.1	603354	GBX1	Gastrulation brain homeobox 1	GBX1	2636	ENSG00000164900			Gbx1 (MGI:95667)
chr7	151175698	151187792	7q36.1	7q36.1	615054	ASB10, GLC1F	Ankyrin repeat- and SOCS box-containing protein 10	ASB10	136371	ENSG00000146926		Glaucoma 1, open angle, F, 603383 (3), Autosomal dominant	Asb10 (MGI:2152836)
chr7	151211484	151227205	7q36	7q36.1	612510	ABCF2, HUSSY18	ATP-binding cassette, subfamily F, member 2	ABCF2	10061	ENSG00000033050			Abcf2 (MGI:1351657)
chr7	151232483	151238822	7q36.1	7q36.1	608037	CHPF2, KIAA1402, CSGlcAT	Chondroitin polymerizing factor 2	CHPF2	54480	ENSG00000033100			Chpf2 (MGI:1917522)
chr7	151238421	151238538	7q36.1	7q36.1	615245	MIR671	Micro RNA 671	MIR671	768213	ENSG00000284191			Mir671 (MGI:3629656)
chr7	151238780	151277149	7q35-q36	7q36.1	601737	SMARCD3, BAF60C	SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 3	SMARCD3	6604	ENSG00000082014			Smarcd3 (MGI:1914243)
chr7	151341812	151378449	7q36.1	7q36.1	607981	NUB1	Negative regulator of ubiquitin-like proteins 1	NUB1	51667	ENSG00000013374			Nub1 (MGI:1889001)
chr7	151428832	151440813	7q36.1	7q36.1	609603	CRYGN	Crystallin, gamma-N	CRYGN	155051	ENSG00000127377			Crygn (MGI:2449167)
chr7	151466012	151519895	7q36	7q36.1	601293	RHEB, RHEB2	Ras homolog enriched in brain	RHEB	6009	ENSG00000106615			Rheb (MGI:97912)
chr7	151556127	151877115	7q36	7q36.1	602743	PRKAG2, WPWS, CMH6	Protein kinase, AMP-activated, noncatalytic, gamma-2	PRKAG2	51422	ENSG00000106617		Glycogen storage disease of heart, lethal congenital, 261740 (3), Autosomal dominant; Wolff-Parkinson-White syndrome, 194200 (3), Autosomal dominant; Cardiomyopathy, hypertrophic 6, 600858 (3), Autosomal dominant	Prkag2 (MGI:1336153)
chr7	151956446	152019929	7q36.1	7q36.1	615133	GALNTL5, GALNACT19	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	GALNTL5	168391	ENSG00000106648			Galntl5 (MGI:1915159)
chr7	152025674	152122340	7q36.1	7q36.1	615130	GALNT11, GALNACT11	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11	GALNT11	63917	ENSG00000178234			Galnt11 (MGI:2444392)
chr7	152134925	152436003	7q36	7q36.1	606833	KMT2C, MLL3, KIAA1506, KLEFS2	Lysine (K)-specific methyltransferase 2C	KMT2C	58508	ENSG00000055609		Kleefstra syndrome 2, 617768 (3), Autosomal dominant	Kmt2c (MGI:2444959)
chr7	152644776	152676141	7q36.1	7q36.1	600375	XRCC2, FANCU, SPGF50, POF17	X-ray repair cross complementing 2	XRCC2	7516	ENSG00000196584	mutation identified in 1 FANCU patient and 1 POF17 patient	Spermatogenic failure 50, 619145 (3), Autosomal recessive; ?Premature ovarian failure 17, 619146 (3), Autosomal recessive; ?Fanconi anemia, complementation group U, 617247 (3), Autosomal recessive	Xrcc2 (MGI:1927345)
chr7	153748133	154894285	7q36.2	7q36.2	126141	DPP6, VF2, MRD33	Dipeptidylpeptidase VI	DPP6	1804	ENSG00000130226		Intellectual developmental disorder, autosomal dominant 33, 616311 (3), Autosomal dominant; {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3), Autosomal dominant	Dpp6 (MGI:94921)
chr7	154943690	155003411	7q36	7q36.2	608254	PAXIP1, PAXIP1L, PTIP	PAX transcription activation domain-interacting protein 1	PAXIP1	22976	ENSG00000157212			Paxip1 (MGI:1890430)
chr7	155070324	155087392	7q36.1	7q36.2	601305	HTR5A	5-hydroxytryptamine (serotonin) receptor-5A	HTR5A	3361	ENSG00000157219			Htr5a (MGI:96283)
chr7	155200001	159345973	7q36.3		613959	SCZD16, C16DUPq36.3, DUP7q36.3	Chromosome 7q36.3 duplication syndrome, 362kb				362kb duplication that includes VIPR2	Schizophrenia 16, 613959 (4)	
chr7	155297878	155310235	7q36	7q36.3	602055	INSIG1	Insulin-induced gene 1	INSIG1	3638	ENSG00000186480			Insig1 (MGI:1916289)
chr7	155356988	155367933	7q36	7q36.3	608450	BLACE	B-cell acute lymphoblastic leukemia-expressed gene	BLACE	338436	ENSG00000204960			
chr7	155458129	155464831	7q36	7q36.3	131310	EN2	Engrailed-2	EN2	2020	ENSG00000164778			En2 (MGI:95390)
chr7	155501129	155546559	7q36.3	7q36.3	612493	CNPY1	Canopy 1, zebrafish, homolog of	CNPY1	285888	ENSG00000146910			Cnpy1 (MGI:2442451)
chr7	155644661	155781480	7q36.3	7q36.3	620833	RBM33	RNA-binding motif protein 33	RBM33	155435	ENSG00000184863			Rbm33 (MGI:1919670)
chr7	155799980	155812463	7q36	7q36.3	600725	SHH, HPE3, HLP3, SMMCI, MCOPCB5	Sonic hedgehog signaling molecule	SHH	6469	ENSG00000164690	separate from TPT1	Single median maxillary central incisor, 147250 (3), Autosomal dominant; Holoprosencephaly 3, 142945 (3), Autosomal dominant; Microphthalmia/coloboma 5, 611638 (3), Autosomal dominant	Shh (MGI:98297)
chr7	156472099	156640535	7q36	7q36.3	610242	C7orf13	Chromosome 7 open reading frame 13	RNF32-DT	100506380	ENSG00000182648	overlaps RNF32 on the opposite strand		
chr7	156640204	156677130	7q36	7q36.3	610241	RNF32	RING finger protein 32	RNF32	140545	ENSG00000105982			Rnf32 (MGI:1861747)
chr7	156669012	156893183	7q36	7q36.3	605522	LMBR1, ACHP, C7orf2, LSS, TPTPS	Limb development membrane protein 1	LMBR1	64327	ENSG00000105983		Syndactyly, type IV, 186200 (3), Autosomal dominant; Laurin-Sandrow syndrome, 135750 (3), Autosomal dominant; Acheiropody, 200500 (3), Autosomal recessive; Triphalangeal thumb-polysyndactyly syndrome, 190605 (3), Autosomal dominant	Lmbr1 (MGI:1861746)
chr7	156790708	156793079	7q36	7q36.3	620738	ZRS	ZPA regulatory sequence		105804841			Polydactyly, preaxial II, 174500 (3), Autosomal dominant; Triphalangeal thumb, 174500 (3), Autosomal dominant; Tibia, hypoplasia or aplasia of, with polydactyly, 188740 (3), Autosomal recessive, Autosomal dominant	
chr7	156949712	156973176	7q36	7q36.3	611269	NOM1, C7orf3	Nucleolar protein with MIF4G domain 1	NOM1	64434	ENSG00000146909			Nom1 (MGI:1861749)
chr7	157004854	157010663	7q36	7q36.3	142994	MNX1, HLXB9, HOXHB9, SCRA1	Motor neuron and pancreas homeobox 1	MNX1	3110	ENSG00000130675		Currarino syndrome, 176450 (3), Autosomal dominant	Mnx1 (MGI:109160)
chr7	157138926	157269370	7q36.3	7q36.3	614454	UBE3C, HECTH2, KIAA0010, KIAA10, NEDSMBA	Ubiquitin protein ligase E3C	UBE3C	9690	ENSG00000009335	mutation identified in 1 NDSMBA	Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, 620270 (3), Autosomal recessive	Ube3c (MGI:2140998)
chr7	157337004	157417439	7q36.3	7q36.3	611332	DNAJB6, MRJ, DJ4, LGMDD1	DNAJ/HSP40 homolog, subfamily B, member 6	DNAJB6	10049	ENSG00000105993		Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3), Autosomal dominant	Dnajb6 (MGI:1344381)
chr7	157539056	158587823	7q36	7q36.3	601698	PTPRN2, IAR, ICAAR	Protein-tyrosine phosphatase, receptor-type, N, polypeptide 2	PTPRN2	5799	ENSG00000155093			Ptprn2 (MGI:107418)
chr7	158631169	158704804	7q36.3	7q36.3	608532	NCAPG2, CAPG2, MTB, 3KS	Non-SMC condensin II complex subunit G2	NCAPG2	54892	ENSG00000146918		Khan-Khan-Katsanis syndrome, 618460 (3), Autosomal recessive	Ncapg2 (MGI:1923294)
chr7	158730997	158829509	7q36.3	7q36.3	616691	ESYT2, FAM62B	Extended synaptotagmin-like protein 2	ESYT2	57488	ENSG00000117868			Esyt2 (MGI:1261845)
chr7	158839245	158958698	7q36.3	7q36.3	615462	WDR60, SRTD8, SRPS6	WD repeat containing protein 60	DYNC2I1	55112	ENSG00000126870		Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3), Autosomal recessive	Dync2i1 (MGI:2445085)
chr7	159028175	159144867	7q36.3	7q36.3	601970	VIPR2	Vasoactive intestinal peptide receptor 2	VIPR2	7434	ENSG00000106018			Vipr2 (MGI:107166)
chr7	1	159345973	Chr.7		608391	AIS2, VAMAS3	Autoimmune disease, susceptibility to, 2		378426			{Autoimmune disease, susceptibility to, 2}, 608391 (2)	
chr8	1	19200000	8p23.3-p22		606129	DBA2	Diamond-Blackfan anemia 2		114086			Diamond-Blackfan anemia 2, 606129 (2)	
chr8	1	29000000	8p23-p21		612279	GEFSP6	Generalized epilepsy with febrile seizures plus, type 6		100190787		between D8S1706 and D8S549	Generalized epilepsy with febrile seizures plus, type 6, 612279 (2)	
chr8	1	12800000	8p23		609259	MYP10	Myopia 10		553195			Myopia 10, 609259 (2), Multifactorial	
chr8	1	19200000	8p23-p22		615174	TDH	L-threonine dehydrogenase, pseudogene	TDH	157739	ENSG00000293451			
chr8	1	12800000	8p23		606662	WS2C	Waardenburg syndrome, type 2C		170594			Waardenburg syndrome, type 2C, 606662 (2)	
chr8	406958	477967	8p23.3	8p23.3	609098	FBXO25, FBX25	F-box only protein 25	FBXO25	26260	ENSG00000147364			Fbxo25 (MGI:1914072)
chr8	489946	545780	8p23	8p23.3	619049	TDRP	Testis development-related protein	TDRP	157695	ENSG00000180190			Tdrp (MGI:1919398)
chr8	737628	1708476	8p	8p23.3	605438	DLGAP2, DAP2	Discs large associated protein 2	DLGAP2	9228	ENSG00000198010			Dlgap2 (MGI:2443181)
chr8	1753059	1786570	8p23	8p23.3	607837	CLN8, EPMR	CLN8 transmembrane ER and ERGIC protein	CLN8	2055	ENSG00000182372		Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 8, 600143 (3), Autosomal recessive	Cln8 (MGI:1349447)
chr8	1823300	1958641	8p23	8p23.3	608136	ARHGEF10, KIAA0294, SNCV	Rho guanine nucleotide exchange factor 10	ARHGEF10	9639	ENSG00000104728	mutation identified in 1 SNCV family	?Slowed nerve conduction velocity, AD, 608236 (3), Autosomal dominant	Arhgef10 (MGI:2444453)
chr8	1973677	2006936	8p23.3	8p23.3	618794	KBTBD11, KIAA0711	Kelch repeat- and BTB/POZ domain-containing protein 11	KBTBD11	9920	ENSG00000176595			Kbtbd11 (MGI:1922151)
chr8	2045046	2145456	8p23.3	8p23.3	603509	MYOM2	Myomesin 2	MYOM2	9172	ENSG00000036448			Myom2 (MGI:1328358)
chr8	2935361	4994914	8p23	8p23.2	608397	CSMD1, KIAA1890	Cub and Sushi multiple domains 1	CSMD1	64478	ENSG00000183117			Csmd1 (MGI:2137383)
chr8	6300001	12800000	8p23.1		222400	DIH2	Diaphragmatic hernia 2		780899			Diaphragmatic hernia 2, 222400 (2), Autosomal recessive	
chr8	6300001	12800000	8p23.1		612254	SLEB12	Systemic lupus erythematosus, susceptibility to, 12		100190928		associated with rs13277113	{Systemic lupus erythematosus, susceptibility to, 12}, 612254 (2)	
chr8	6406627	6648508	8p23	8p23.1	607117	MCPH1	Microcephalin	MCPH1	79648	ENSG00000147316	genetic heterogeneity	Microcephaly 1, primary, autosomal recessive, 251200 (3), Autosomal recessive	Mcph1 (MGI:2443308)
chr8	6499632	6563245	8p23	8p23.1	601922	ANGPT2, ANG2, LMPHM10	Angiopoietin 2	ANGPT2	285	ENSG00000091879	close to MCPH1	Lymphatic malformation 10, 619369 (3), Autosomal dominant	Angpt2 (MGI:1202890)
chr8	6708642	6761503	8p23.1	8p23.1	614796	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	AGPAT5	55326	ENSG00000155189			Agpat5 (MGI:1196345)
chr8	6870592	6877936	8p23.1	8p23.1	602056	DEFB1	Defensin, beta-1	DEFB1	1672	ENSG00000164825			Defb1,Defb37 (MGI:1096878,MGI:2672966)
chr8	6924697	6926076	8p23.1	8p23.1	600471	DEFA6, DEF6	Defensin, alpha-6, Paneth cell-specific	DEFA6	1671	ENSG00000164822			AY761185,Defa-rs10,Defa-rs12,Defa-rs2,Defa1,Defa10,Defa11,Defa12,Defa13,Defa14,Defa15,Defa16,Defa17,Defa2,Defa20,Defa21,Defa22,Defa23,Defa24,Defa25,Defa26,Defa27,Defa28,Defa29,Defa3,Defa30,Defa31,Defa32,Defa34,Defa35,Defa36,Defa37,Defa38,Defa39,Defa4,Defa40,Defa41,Defa42,Defa43,Defa5,Defa6,Defa7,Defa8,Defa9 (MGI:102509,MGI:102514,MGI:102516,MGI:1345152,MGI:1913548,MGI:1915259,MGI:3611585,MGI:3630303,MGI:3630381,MGI:3630383,MGI:3630385,MGI:3630390,MGI:3639039,MGI:3642780,MGI:3645033,MGI:3646688,MGI:3648003,MGI:3705230,MGI:3705236,MGI:3708769,MGI:3709042,MGI:3709048,MGI:3709605,MGI:3711900,MGI:3808881,MGI:5434853,MGI:94880,MGI:94881,MGI:94882,MGI:94883,MGI:99579,MGI:99580,MGI:99581,MGI:99582,MGI:99583,MGI:99584,MGI:99585,MGI:99586,MGI:99587,MGI:99588,MGI:99589,MGI:99590,MGI:99591,MGI:99592)
chr8	6935820	6938306	8p23	8p23.1	601157	DEFA4, DEF4, HP4	Defensin, alpha-4, corticostatin	DEFA4	1669	ENSG00000164821			AY761185,Defa-rs2,Defa20,Defa32,Defa38,Defa39,Defa4,Defa42,Defa43 (MGI:1915259,MGI:3611585,MGI:3630303,MGI:3645033,MGI:3648003,MGI:3709042,MGI:3709605,MGI:99584,MGI:99592)
chr8	6977649	6980092	8p23.1	8p23.1	125220	DEFA1, DEF1, MRS	Defensin, alpha-1, myeloid-related sequence	DEFA1	1667	ENSG00000206047			AY761185,Defa-rs10,Defa-rs12,Defa-rs2,Defa1,Defa10,Defa11,Defa12,Defa13,Defa14,Defa15,Defa16,Defa17,Defa2,Defa20,Defa23,Defa24,Defa25,Defa26,Defa27,Defa28,Defa3,Defa30,Defa31,Defa32,Defa34,Defa35,Defa36,Defa37,Defa4,Defa40,Defa41,Defa5,Defa6,Defa7,Defa8,Defa9 (MGI:102509,MGI:102514,MGI:102516,MGI:1345152,MGI:1915259,MGI:3630303,MGI:3630381,MGI:3630383,MGI:3630385,MGI:3630390,MGI:3642780,MGI:3646688,MGI:3705230,MGI:3705236,MGI:3708769,MGI:3709042,MGI:3709048,MGI:3711900,MGI:3808881,MGI:5434853,MGI:94880,MGI:94882,MGI:94883,MGI:99579,MGI:99580,MGI:99581,MGI:99582,MGI:99583,MGI:99584,MGI:99585,MGI:99586,MGI:99587,MGI:99588,MGI:99589,MGI:99590,MGI:99591,MGI:99592)
chr8	7015869	7018297	8p23.1	8p23.1	604522	DEFA3, DEF3, HNP3	Defensin, alpha, 3	DEFA3	1668	ENSG00000239839			AY761185,Defa-rs10,Defa-rs12,Defa-rs2,Defa1,Defa10,Defa11,Defa12,Defa13,Defa14,Defa15,Defa16,Defa17,Defa2,Defa20,Defa21,Defa22,Defa23,Defa24,Defa25,Defa26,Defa27,Defa28,Defa29,Defa3,Defa30,Defa31,Defa32,Defa34,Defa35,Defa36,Defa37,Defa4,Defa40,Defa41,Defa5,Defa6,Defa7,Defa8,Defa9 (MGI:102509,MGI:102514,MGI:102516,MGI:1345152,MGI:1913548,MGI:1915259,MGI:3630303,MGI:3630381,MGI:3630383,MGI:3630385,MGI:3630390,MGI:3639039,MGI:3642780,MGI:3646688,MGI:3705230,MGI:3705236,MGI:3708769,MGI:3709042,MGI:3709048,MGI:3711900,MGI:3808881,MGI:5434853,MGI:94880,MGI:94881,MGI:94882,MGI:94883,MGI:99579,MGI:99580,MGI:99581,MGI:99582,MGI:99583,MGI:99584,MGI:99585,MGI:99586,MGI:99587,MGI:99588,MGI:99589,MGI:99590,MGI:99591,MGI:99592)
chr8	7055304	7056739	8p23.1	8p23.1	600472	DEFA5, DEF5	Defensin, alpha-5, Paneth cell-specific	DEFA5	1670	ENSG00000164816			AY761185,Defa-rs10,Defa-rs12,Defa-rs2,Defa1,Defa10,Defa11,Defa12,Defa13,Defa14,Defa15,Defa16,Defa17,Defa2,Defa23,Defa24,Defa25,Defa26,Defa27,Defa28,Defa3,Defa30,Defa31,Defa34,Defa35,Defa36,Defa37,Defa40,Defa41,Defa5,Defa6,Defa7,Defa8,Defa9 (MGI:102509,MGI:102514,MGI:102516,MGI:1345152,MGI:3630303,MGI:3630381,MGI:3630383,MGI:3630385,MGI:3630390,MGI:3642780,MGI:3646688,MGI:3705230,MGI:3705236,MGI:3708769,MGI:3709048,MGI:3711900,MGI:3808881,MGI:5434853,MGI:94880,MGI:94882,MGI:94883,MGI:99579,MGI:99580,MGI:99581,MGI:99582,MGI:99583,MGI:99585,MGI:99586,MGI:99587,MGI:99588,MGI:99589,MGI:99590,MGI:99591,MGI:99592)
chr8	7256904	7259914	8p23.1	8p23.1	613051	FAM90A15P, FAM90A15	Family with sequence similarity 90, member A15, pseudogene	FAM90A15	389630	ENSG00000230045	copy 1		Fam90a1a,Fam90a1b (MGI:1921682,MGI:2142877)
chr8	7264526	7267536	8p23.1	8p23.1	613042	FAM90A3P, FAM90A3	Family with sequence similarity 90, member A3, pseudogene	FAM90A3	389611	ENSG00000233132	copy 2		
chr8	7279770	7282780	8p23.1	8p23.1	613049	FAM90A13P, FAM90A13	Family with sequence similarity 90, member A13, pseudogene	FAM90A13	441314	ENSG00000223885	copy 4		Fam90a1a,Fam90a1b (MGI:1921682,MGI:2142877)
chr8	7287392	7290402	8p23.1	8p23.1	613043	FAM90A5P, FAM90A5	Family with sequence similarity 90, member A5, pseudogene	FAM90A5	441315	ENSG00000215373	copy 5		Fam90a1a,Fam90a1b (MGI:1921682,MGI:2142877)
chr8	7295014	7298024	8p23.1	8p23.1	613054	FAM90A20P, FAM90A20	Family with sequence similarity 90, member A20, pseudogene	FAM90A20	728430	ENSG00000233295	copy 6		Fam90a1b (MGI:1921682)
chr8	7428888	7430348	8p23.1	8p23.1	606611	DEFB103A, DEFB3, HBD3, HBP3	Defensin, beta 103A	DEFB103B	55894	ENSG00000177243			Defb14 (MGI:2675345)
chr8	7447754	7463542	8p23-p22	8p23.1	606560	SPAG11B, HE2, EP2	Sperm-associated antigen 11B	SPAG11B	10407	ENSG00000164871			Spag11b (MGI:3647173)
chr8	7556700	7559712	8p23.1	8p23.1	613044	FAM90A7P, FAM90A7	Family with sequence similarity 90, member A7, pseudogene	FAM90A7	441317	ENSG00000285975	copy 8		Fam90a1b (MGI:1921682)
chr8	7715443	7718453	8p23.1	8p23.1	613050	FAM90A14P, FAM90A14	Family with sequence similarity 90, member A14, pseudogene	FAM90A14	645651	ENSG00000285814	copy 12		Fam90a1a,Fam90a1b (MGI:1921682,MGI:2142877)
chr8	7723091	7726101	8p23.1	8p23.1	613052	FAM90A18P, FAM90A18	Family with sequence similarity 90, member A18, pseudogene	FAM90A18	441326	ENSG00000285913	copy 13		Fam90a1b (MGI:1921682)
chr8	7738387	7741396	8p23.1	8p23.1	613045	FAM90A8P, FAM90A8	Family with sequence similarity 90, member A8, pseudogene	FAM90A8	441324	ENSG00000285937	copy 15		Fam90a1b (MGI:1921682)
chr8	7753682	7756692	8p23.1	8p23.1	613053	FAM90A19P, FAM90A19	Family with sequence similarity 90, member A19, pseudogene	FAM90A19	728753	ENSG00000285657	copy 17		Fam90a1b (MGI:1921682)
chr8	7761330	7764340	8p23.1	8p23.1	613046	FAM90A9P, FAM90A9	Family with sequence similarity 90, member A9, pseudogene	FAM90A9	441327	ENSG00000285607	copy 18		Fam90a1b (MGI:1921682)
chr8	7768977	7771988	8p23.1	8p23.1	613047	FAM90A10P, FAM90A10	Family with sequence similarity 90, member A10, pseudogene	FAM90A10	441328	ENSG00000285950	copy 19		Fam90a1b (MGI:1921682)
chr8	7894677	7896716	8p23.1	8p23.1	602215	DEFB4A, DEFB4, DEFB2	Defensin, beta-4a (formerly defensin, beta-2)	DEFB4A	1673	ENSG00000171711			Defb3,Defb4,Defb5,Defb6,Defb7,Defb8 (MGI:1351612,MGI:1927667,MGI:1933153,MGI:2151044,MGI:2179200,MGI:2654206)
chr8	8027636	8030646	8p23.1	8p23.1	613048	FAM90A12P, FAM90A12	Family with sequence similarity 90, member A12, pseudogene	FAM90A12	645879	ENSG00000254229	copy 22		Fam90a1b (MGI:1921682)
chr8	8317736	8386439	8p23.1	8p23.1	617344	PRAG1, PRAGMIN, NACK	PEAK1-related kinase-activating pseudokinase 1	PRAG1	157285	ENSG00000275342			Prag1 (MGI:1196223)
chr8	8701937	8704096	8p23.1	8p23.1	609203	CLDN23	Claudin 23	CLDN23	137075	ENSG00000253958			Cldn23 (MGI:1919158)
chr8	8783354	8893630	8p23.1	8p23.1	605352	MFHAS1, MASL1	Malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats-1	MFHAS1	9258	ENSG00000147324		Malignant fibrous histiocytoma, 605352 (2)	Mfhas1 (MGI:1098644)
chr8	9002897	9100104	8p23.1	8p23.1	608739	ERI1, HEXO, SEMDGC, HXAL	Exoribonuclease 1	ERI1	90459	ENSG00000104626		Hoxha-Aliu syndrome, 620662 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia, Guo-Campeau type, 620663 (3), Autosomal recessive	Eri1 (MGI:1914526)
chr8	9136255	9151539	8p23	8p23.1	610541	PPP1R3B, GL	Protein phosphatase 1, regulatory subunit 3B	PPP1R3B	79660	ENSG00000173281			Ppp1r3b (MGI:2177268)
chr8	9555912	9782346	8p23.1	8p23.1	603303	TNKS, TNKS1	Tankyrase	TNKS	8658	ENSG00000173273			Tnks (MGI:1341087)
chr8	9903388	9903472	8p23.1	8p23.1	609327	MIR124-1, MIR124A	Micro RNA 124-1	MIR124-1	406907	ENSG00000284321			Mir124a-1 (MGI:2676807)
chr8	10054292	10428891	8p23.1	8p23.1	601250	MSRA	Peptide methionine sulfoxide reductase	MSRA	4482	ENSG00000175806			Msra (MGI:106916)
chr8	10525532	10554166	8p23.1	8p23.1	615144	PRSS55, TSP1	Protease, serine, 55	PRSS55	203074	ENSG00000184647			Prss55 (MGI:1918287)
chr8	10606349	10655143	8p23	8p23.1	608581	RP1L1, OCMD, RP88	RP1-like protein 1	RP1L1	94137	ENSG00000183638		Occult macular dystrophy, 613587 (3), Autosomal dominant; Retinitis pigmentosa 88, 618826 (3), Autosomal recessive	Rp1l1 (MGI:2384303)
chr8	10723768	10730511	8p22	8p23.1	612202	SOX7	SRY-box 7	SOX7	83595	ENSG00000171056			Sox7 (MGI:98369)
chr8	10764961	10839875	8p23	8p23.1	606505	PINX1	PIN2-interacting protein 1	PINX1	54984	ENSG00000254093			Pinx1 (MGI:1919650)
chr8	11284816	11339526	8p23-p22	8p23.1	606260	MTMR9, MTMR8	Myotubularin-related protein 9	MTMR9	66036	ENSG00000104643			Mtmr9 (MGI:2442842)
chr8	11331012	11332360	8p21.3	8p23.1	615199	SLC35G5, AMAC, AMAC1L2	Solute carrier family 35, member G5	SLC35G5	83650	ENSG00000177710			Slc35g3 (MGI:1927128)
chr8	11421476	11475908	8p23-p22	8p23.1	610085	FAM167A, C8orf13	Family with sequence similarity 167, member A	FAM167A	83648	ENSG00000154319			Fam167a (MGI:3606565)
chr8	11494387	11564599	8p23-p22	8p23.1	191305	BLK, MODY11	BLK protooncogene, SRC family tyrosinase kinase	BLK	640	ENSG00000136573		Maturity-onset diabetes of the young, type 11, 613375 (3), Autosomal dominant	Blk (MGI:88169)
chr8	11676935	11760002	8p23.1-p22	8p23.1	600576	GATA4, ASD2, VSD1, TACHD, TOF	GATA-binding protein-4	GATA4	2626	ENSG00000136574	mutations identified in 1 TACHD family	Tetralogy of Fallot, 187500 (3), Autosomal dominant; Atrial septal defect 2, 607941 (3), Autosomal dominant; Ventricular septal defect 1, 614429 (3), Autosomal dominant; Atrioventricular septal defect 4, 614430 (3), Autosomal dominant; ?Testicular anomalies with or without congenital heart disease, 615542 (3), Autosomal dominant	Gata4 (MGI:95664)
chr8	11769710	11787345	8p23.1	8p23.1	608933	NEIL2, NEI2	Endonuclease VIII-like 2	NEIL2	252969	ENSG00000154328			Neil2 (MGI:2686058)
chr8	11795582	11839298	8p23.1-p22	8p23.1	184420	FDFT1, DGPT, SQSD	Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase)	FDFT1	2222	ENSG00000079459		Squalene synthase deficiency, 618156 (3), Autosomal recessive	Fdft1 (MGI:102706)
chr8	11842524	11868087	8p22	8p23.1	116810	CTSB, CPSB, RECEUP	Cathepsin B (regulatory element, cis-acting, enhancer upstream of CTSB, included)	CTSB	1508	ENSG00000164733	KWE due to duplication upstream of CTSB that disrupts a cis-acting regulatory element	Keratolytic winter erythema, 148370 (4), Autosomal dominant	Ctsb (MGI:88561)
chr8	12136435	12138849	8p23.1	8p23.1	610186	USP17L2, DUB3	Ubiquitin specific peptidase 17-like family member 2	USP17L2	377630	ENSG00000223443			Usp17la,Usp17lb,Usp17lc,Usp17ld,Usp17le (MGI:107697,MGI:107698,MGI:107699,MGI:3051372,MGI:3051498)
chr8	12182106	12194937	8p23.1	8p23.1	616122	FAM86B1	Family with sequence similarity 86, member B1	FAM86B1	85002	ENSG00000186523			Eef2kmt (MGI:1917761)
chr8	12424421	12436400	8p23.1	8p23.1	616123	FAM86B2	Family with sequence similarity 86, member B2	FAM86B2	653333	ENSG00000145002			Eef2kmt (MGI:1917761)
chr8	12800001	19200000	8p22		614252	ANIB11	Aneurysm, intracranial berry, 11		100750328		max lod at D8S552	Aneurysm, intracranial berry, 11, 614252 (2)	
chr8	12800001	19200000	8p22		612030	CHDS9	Coronary heart disease, susceptibility to, 9		100188877		max lod at D8S1106	{Coronary heart disease, susceptibility to, 9}, 612030 (2)	
chr8	12800001	23500000	8p22-p21.3		612789	DFNB71	Deafness, autosomal recessive 71		100302513		max lod at D8S261	Deafness, autosomal recessive 71, 612789 (2), Autosomal recessive	
chr8	12945673	13029777	8p22	8p22	615666	TRMT9B, TRM9L, KIAA1456	Putative tRNA methyltransferase 9B	TRMT9B	57604	ENSG00000250305			Trmt9b (MGI:2442328)
chr8	13083361	13604620	8p22-p21.3	8p22	604258	DLC1	DLC1 Rho GTPase activating protein	DLC1	10395	ENSG00000164741		Colorectal cancer, somatic, 114500 (3)	Dlc1 (MGI:1354949)
chr8	14084845	15238431	8p22	8p22	608113	SGCZ, ZSG1	Sarcoglycan, zeta	SGCZ	137868	ENSG00000185053			Sgcz (MGI:2388820)
chr8	15417188	15852091	8p22	8p22	601385	TUSC3, M33, D8S1992, MRT7, MRT22	Tumor suppressor candidate 3	TUSC3	7991	ENSG00000104723		Intellectual developmental disorder, autosomal recessive 7, 611093 (3), Autosomal recessive	Tusc3 (MGI:1933134)
chr8	16107881	16192651	8p22	8p22	153622	MSR1, SCARA1, SRA	Macrophage scavenger receptor	MSR1	4481	ENSG00000038945	~11cM distal to LPL	Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	Msr1 (MGI:98257)
chr8	16992181	17002345	8p22-p21.3	8p22	605558	FGF20, RHDA2	Fibroblast growth factor-20	FGF20	26281	ENSG00000078579	mutation identified in 1 RHDA2 family	?Renal hypodysplasia/aplasia 2, 615721 (3), Autosomal recessive	Fgf20 (MGI:1891346)
chr8	17027238	17138640	8p22	8p22	610633	MICU3, EFHA2	Mitochondrial calcium uptake protein 3	MICU3	286097	ENSG00000155970			Micu3 (MGI:1925756)
chr8	17156482	17224799	8p22	8p22	618621	ZDHHC2, DHHC2, ZNF372, REAM	Zinc finger DHHC-type palmitoyltransferase 2	ZDHHC2	51201	ENSG00000104219			Zdhhc2 (MGI:1923452)
chr8	17224966	17246857	8p22-p21.3	8p22	604913	CNOT7, CAF1	CCR4-NOT transcription complex, subunit 7	CNOT7	29883	ENSG00000198791			Cnot7 (MGI:1298230)
chr8	17246958	17333455	8p23-p21	8p22	609927	VPS37A, HCRP1, SPG53	VPS37A subunit of ESCRIT-I	VPS37A	137492	ENSG00000155975		Spastic paraplegia 53, autosomal recessive, 614898 (3), Autosomal recessive	Vps37a (MGI:1261835)
chr8	17296794	17413351	8p22	8p22	603562	MTMR7	Myotubularin-related protein 7	MTMR7	9108	ENSG00000003987			Mtmr7 (MGI:1891693)
chr8	17494069	17570566	8p22	8p22	601872	SLC7A2, ATRC2, HCAT2	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	SLC7A2	6542	ENSG00000003989			Slc7a2 (MGI:99828)
chr8	17576433	17643144	8p22-p21.3	8p22	604584	PDGFRL, PDGRL, PRLTS	Platelet-derived growth factor receptor-like	PDGFRL	5157	ENSG00000104213		Hepatocellular cancer, somatic, 114550 (3); Colorectal cancer, somatic, 114500 (3)	Pdgfrl (MGI:1916047)
chr8	17643802	17801521	8p22	8p22	609589	MTUS1, ATIP, KIAA1288	Microtubule-associated scaffold protein 1	MTUS1	57509	ENSG00000129422			Mtus1 (MGI:2142572)
chr8	17864389	17895538	8p22	8p22	605776	FGL1, HFREP1	Fibrinogen-like 1	FGL1	2267	ENSG00000104760			Fgl1 (MGI:102795)
chr8	17922988	18029948	8p22-p21.3	8p22	600299	PCM1, PTC4	Pericentriolar material 1	PCM1	5108	ENSG00000078674	fused with RET to form PTC4		Pcm1 (MGI:1277958)
chr8	18055992	18084961	8p22-p21.3	8p22	613468	ASAH1, AC, SMAPME	N-acylsphingosine amidohydrolase (acid ceramidase) 1	ASAH1	427	ENSG00000104763		Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3), Autosomal recessive; Farber lipogranulomatosis, 228000 (3), Autosomal recessive	Asah1 (MGI:1277124)
chr8	18170467	18223689	8p23.1-p21.3	8p22	108345	NAT1, AAC1	Arylamine N-acetyltransferase-1	NAT1	9	ENSG00000171428			Nat1,Nat2,Nat3 (MGI:102537,MGI:109201,MGI:97279)
chr8	18386301	18401218	8p23.1-p21.3	8p22	612182	NAT2, AAC2	Arylamine N-acetyltransferase-2	NAT2	10	ENSG00000156006	acetylation polymorphism	[Acetylation, slow], 243400 (3), Autosomal recessive	Nat1,Nat2,Nat3 (MGI:102537,MGI:109201,MGI:97279)
chr8	18527303	19084805	8p22	8p22	614440	PSD3, HCA67, EFA6R	Pleckstrin and Sec7 domains-containing protein 3	PSD3	23362	ENSG00000156011			Psd3 (MGI:1918215)
chr8	19200001	29000000	8p21		603013	SCZD6	Schizophrenia susceptibility locus, chromosome 8p-related		8400		?neuregulin 1	{Schizophrenia}, 181500 (2), Autosomal dominant	
chr8	19313693	19396218	8p22	8p21.3	614968	SH2D4A, SH2A, PPP1R38	SH2 domain-containing protein 4A	SH2D4A	63898	ENSG00000104611			Sh2d4a (MGI:1919531)
chr8	19404161	19757908	8p21.3	8p21.3	616615	CSGALNACT1, SDJLABA	Chondroitin sulfate N-acetylgalactosaminyltransferase 1	CSGALNACT1	55790	ENSG00000147408		Skeletal dysplasia, mild, with joint laxity and advanced bone age, 618870 (3), Autosomal recessive	Csgalnact1 (MGI:2442354)
chr8	19817416	19852067	8p21.3	8p21.3	611353	INTS10, INT10	Integrator complex subunit 10	INTS10	55174	ENSG00000104613			Ints10 (MGI:1918135)
chr8	19939253	19967259	8p22	8p21.3	609708	LPL, LIPD, HDLCQ11	Lipoprotein lipase	LPL	4023	ENSG00000175445		Lipoprotein lipase deficiency, 238600 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 11], 238600 (3), Autosomal recessive; Combined hyperlipidemia, familial, 144250 (3), Autosomal dominant	Lpl (MGI:96820)
chr8	20144855	20183136	8p21.3	8p21.3	193002	SLC18A1, VMAT1, VAT1, CGAT	Solute carrier family 18 (vesicular monoamine), member 1	SLC18A1	6570	ENSG00000036565			Slc18a1 (MGI:106684)
chr8	20197381	20221696	8p21.3	8p21.3	606939	ATP6V1B2, ATP6B2, VPP3, DOOD, ZLS2	ATPase, H+ transporting, V1 subunit B2	ATP6V1B2	526	ENSG00000147416		Zimmermann-Laband syndrome 2, 616455 (3), Autosomal dominant; Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3), Autosomal dominant	Atp6v1b2 (MGI:109618)
chr8	20246165	20303963	8p22	8p21.3	606551	LZTS1, F37, FEZ1	Leucine zipper, putative tumor suppressor 1	LZTS1	11178	ENSG00000061337		Esophageal squamous cell carcinoma, somatic, 133239 (3)	Lzts1 (MGI:2684762)
chr8	21690398	21812345	8p21	8p21.3	601956	GFRA2, GDNFRB	GDNF family receptor alpha-2	GFRA2	2675	ENSG00000168546			Gfra2 (MGI:1195462)
chr8	21908873	21913690	8p21.3	8p21.3	604997	DOK2, P56DOK	Docking protein 2	DOK2	9046	ENSG00000147443			Dok2 (MGI:1332623)
chr8	21919662	22006585	8p21.3	8p21.3	606140	XPO7, RANBP16, KIAA0745	Exportin 7	XPO7	23039	ENSG00000130227			Xpo7 (MGI:1929705)
chr8	22024134	22036897	8p21.3	8p21.3	608073	NPM2	Nucleophosmin/nucleoplasmin family, member 2	NPM2	10361	ENSG00000158806			Npm2 (MGI:1890811)
chr8	22039672	22048809	8p21.3	8p21.3	603725	FGF17, HH20	Fibroblast growth factor 17	FGF17	8822	ENSG00000158815		Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3), Autosomal dominant	Fgf17 (MGI:1202401)
chr8	22048931	22082525	8p21.1	8p21.3	125305	EPB49, DMT	Erythrocyte membrane protein band 49 (dematin)	DMTN	2039	ENSG00000158856			Dmtn (MGI:99670)
chr8	22089150	22104911	8p21.3	8p21.3	620230	FHIP2B, FAI16, RAM160B2	FHF complex subunit hook-interacting protein 2B	FHIP2B	64760	ENSG00000158863			Fhip2b (MGI:3036290)
chr8	22106878	22110482	8p21.3	8p21.3	615791	NUDT18, MTH3	Nudix hydrolase 18	NUDT18	79873	ENSG00000275074			Nudt18 (MGI:2385853)
chr8	22114419	22131052	8p21.2	8p21.3	602302	HR, AU, MUHH1	HR lysine demethylase and nuclear receptor corepressor	HR	55806	ENSG00000168453		Atrichia with papular lesions, 209500 (3), Autosomal recessive; Alopecia universalis, 203655 (3), Autosomal recessive	Hr (MGI:96223)
chr8	22130458	22131010	8p21.2	8p21.3	619257	HRURF, U2HR	HR upstream open reading frame, U2HR	HRURF	120766137	ENSG00000288677		Hypotrichosis 4, 146550 (3), Autosomal dominant	
chr8	22138020	22141907	8p21.3	8p21.3	609349	REEP4, C8orf20	Receptor expression-enhancing protein 4	REEP4	80346	ENSG00000168476			Reep4 (MGI:1919799)
chr8	22146830	22156806	8p21.3	8p21.3	608302	LGI3, IDDMDS	Leucine-rich gene, glioma-inactivated, 3	LGI3	203190	ENSG00000168481		Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, 620007 (3), Autosomal recessive	Lgi3 (MGI:2182619)
chr8	22157383	22164479	8p21	8p21.3	178620	SFTPC, SFTP2, SMDP2	Surfactant, pulmonary-associated protein C (pulmonary surfactant apoprotein-2, SP-C)	SFTPC	6440	ENSG00000168484		Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3), Autosomal dominant	Sftpc (MGI:109517)
chr8	22165372	22212326	8p21	8p21.3	112264	BMP1, OI13	Bone morphogenetic protein-1	BMP1	649	ENSG00000168487	1kb 3' to SFTP2	Osteogenesis imperfecta, type XIII, 614856 (3), Autosomal recessive	Bmp1 (MGI:88176)
chr8	22219703	22232099	8p21.3	8p21.3	608511	PHYHIP, PAHXAP1, KIAA0273	Phytanoyl-CoA hydroxylase-interacting protein	PHYHIP	9796	ENSG00000168490			Phyhip (MGI:1860417)
chr8	22244966	22245037	8p21.3	8p21.3	614112	MIR320A, MIRN320A	Micro RNA 320A	MIR320A	407037	ENSG00000208037			Mir320 (MGI:3619332)
chr8	22245133	22254601	8q21	8p21.3	187280	POLR3D, BN51T, TSBN51	Polymerase III, RNA, subunit D	POLR3D	661	ENSG00000168495			Polr3d (MGI:1914315)
chr8	22275316	22357568	8p21.3	8p21.3	610312	PIWIL2, MILI	PIWI-like RNA-mediated gene silencing 2	PIWIL2	55124	ENSG00000197181			Piwil2 (MGI:1930036)
chr8	22367278	22434129	8p21.3	8p21.3	608736	SLC39A14, ZIP14, KIAA0062, HMNDYT2, HCIN	Solute carrier family 39 (zinc transporter), member 14	SLC39A14	23516	ENSG00000104635	mutation identified in 1 HCTN family	?Hyperostosis cranalis interna, 144755 (3), Autosomal dominant; Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive	Slc39a14 (MGI:2384851)
chr8	22441078	22541125	Chr.8	8p21.3	114107	PPP3CC, CALNA3	Protein phosphatase-3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)	PPP3CC	5533	ENSG00000120910			Ppp3cc (MGI:107162)
chr8	22544973	22575788	8p21.3	8p21.3	610795	SORBS3, SCAM1, SH3D4	Sorbin and SH3 domains-containing 3	SORBS3	10174	ENSG00000120896			Sorbs3 (MGI:700013)
chr8	22578741	22598026	8p21.2	8p21.3	609722	PDLIM2, MYSTIQUE	PDZ and LIM domain protein 2	PDLIM2	64236	ENSG00000120913			Pdlim2 (MGI:2384850)
chr8	22604757	22621514	8p21	8p21.3	607359	CCAR2, DBC1, KIAA1967	Cell division cycle and apoptosis regulator 2	CCAR2	57805	ENSG00000158941			Ccar2 (MGI:2444228)
chr8	22620418	22669121	8p21.3	8p21.3	606396	BIN3	Bridging integrator 3	BIN3	55909	ENSG00000147439			Bin3 (MGI:1929883)
chr8	22687659	22693480	8p23-p21	8p21.3	602419	EGR3	Early growth response 3	EGR3	1960	ENSG00000179388			Egr3 (MGI:1306780)
chr8	22713251	22941077	8p21.2	8p21.3	612473	PEPB4, CORK1	Phosphatidylethanolamine-binding protein 4	PEBP4	157310	ENSG00000134020			Pebp4 (MGI:1920773)
chr8	22950813	23020199	8p21.2	8p21.3	607352	RHOBTB2, DBC2, KIAA0717, DEE64	Rho-related BTB domain-containing protein 2	RHOBTB2	23221	ENSG00000008853		Developmental and epileptic encephalopathy 64, 618004 (3), Autosomal dominant	Rhobtb2 (MGI:2180557)
chr8	23020133	23069031	8p22-p21	8p21.3	603612	TNFRSF10B, DR5, TRAILR2	Tumor necrosis factor receptor superfamily, member 10B	TNFRSF10B	8795	ENSG00000120889		Squamous cell carcinoma, head and neck, 275355 (3), Autosomal recessive	Tnfrsf10b (MGI:1341090)
chr8	23102921	23117445	8p22-p21	8p21.3	603613	TNFRSF10C, DCR1, TRAILR3, TRID	Tumor necrosis factor receptor superfamily, member 10C	TNFRSF10C	8794	ENSG00000173535			Tnfrsf10b (MGI:1341090)
chr8	23135588	23164027	8p21	8p21.3	603614	TNFRSF10D, DCR2, TRAILR4	Tumor necrosis factor receptor superfamily, member 10D	TNFRSF10D	8793	ENSG00000173530			Tnfrsf10b (MGI:1341090)
chr8	23190452	23225102	8p21	8p21.3	603611	TNFRSF10A, DR4, TRAILR1, APO2	Tumor necrosis factor receptor superfamily, member 10A	TNFRSF10A	8797	ENSG00000104689			Tnfrsf10b (MGI:1341090)
chr8	23243637	23261999	8p21.3	8p21.3	611130	CHMP7	Charged multivesicular body protein 7	CHMP7	91782	ENSG00000147457			Chmp7 (MGI:1913922)
chr8	23296897	23404120	8p21.3-p21.2	8p21.3	606663	LOXL2	Lysyl oxidase-like 2	LOXL2	4017	ENSG00000134013			Loxl2 (MGI:2137913)
chr8	23429162	23457647	8p21.3	8p21.3	607577	ENTPD4, LYSAL1, LAP70, KIAA0392	Ectonucleoside triphosphate diphosphohydrolase 4	ENTPD4	9583	ENSG00000197217			Entpd4,Entpd4b (MGI:1914714,MGI:5435040)
chr8	23528956	23575463	8p21	8p21.2	610387	SLC25A37, MFRN, MFRN1	Solute carrier family 25 (mitochondrial iron carrier), member 37	SLC25A37	51312	ENSG00000147454			Slc25a37 (MGI:1914962)
chr8	23678693	23682938	8p21	8p21.2	602041	NKX3-1, NKX3A, BAPX2	NK3 homeobox 1	NKX3-1	4824	ENSG00000167034			Nkx3-1 (MGI:97352)
chr8	23701740	23706756	8p21	8p21.2	611770	NKX2-6, CSX2, CTHM	NK2, Drosophila, homolog of, 6	NKX2-6	137814	ENSG00000180053		Persistent truncus arteriosus, 217095 (3); Conotruncal heart malformations, 217095 (3)	Nkx2-6 (MGI:97351)
chr8	23841929	23854806	8p21-p11.2	8p21.2	601185	STC1, STC	Stanniocalcin 1	STC1	6781	ENSG00000159167			Stc1 (MGI:109131)
chr8	24294069	24359014	8p12	8p21.2	606188	ADAM28, MDCL	ADAM metallopeptidase domain 28	ADAM28	10863	ENSG00000042980			Adam28 (MGI:105988)
chr8	24384285	24406013	8p12	8p21.2	606393	ADAMDEC1, DECYSIN	ADAM-like decysin 1	ADAMDEC1	27299	ENSG00000134028			Adamdec1 (MGI:1917650)
chr8	24441026	24509565	8p12	8p21.2	607310	ADAM7	ADAM metallopeptidase domain 7	ADAM7	8756	ENSG00000069206			Adam7 (MGI:107247)
chr8	24913761	24919093	8p21	8p21.2	162250	NEFM, NEF3, NFM	Neurofilament protein, medium polypeptide	NEFM	4741	ENSG00000104722			Nefm (MGI:97314)
chr8	24950955	24956612	8p21	8p21.2	162280	NEFL, CMT2E, CMT1F, CMTDIG	Neurofilament, light polypeptide	NEFL	4747	ENSG00000277586		Charcot-Marie-Tooth disease, type 1F, 607734 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2E, 607684 (3), Autosomal dominant	Nefl (MGI:97313)
chr8	25184689	25415711	8p21.2	8p21.2	616904	DOCK5	Dedicator of cytokinesis 5	DOCK5	80005	ENSG00000147459			Dock5 (MGI:2652871)
chr8	25419258	25425040	8p21-p11.2	8p21.2	152760	GNRH1, LNRH, HH12	Gonadotropin-releasing hormone-1 (luteinizing-releasing hormone)	GNRH1	2796	ENSG00000147437	mutation identified in 1 HH12 family	?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3), Autosomal recessive	Gnrh1 (MGI:95789)
chr8	25427847	25458433	8p21.2	8p21.2	617265	KCTD9, BTBD27	Potassium channel tetramerization domain-containing protein 9	KCTD9	54793	ENSG00000104756			Kctd9 (MGI:2145579)
chr8	25458931	25507917	8p21.2	8p21.2	618785	CDCA2, PPP1R81	Cell division cycle-associated protein 2	CDCA2	157313	ENSG00000184661			Cdca2 (MGI:1919787)
chr8	25841725	26045413	8p21.2	8p21.2	609934	EBF2	Early B-cell factor 2	EBF2	64641	ENSG00000221818			Ebf2 (MGI:894332)
chr8	26291508	26372680	8p21.2	8p21.2	604941	PPP2R2A	Protein phosphatase 2, regulatory subunit B, alpha	PPP2R2A	5520	ENSG00000221914			Ppp2r2a (MGI:1919228)
chr8	26383054	26413127	8p21	8p21.2	605368	BNIP3L, NIX	BCL2/adenovirus E1B 19-kD protein-interacting protein 3-like	BNIP3L	665	ENSG00000104765			Bnip3l,Bnip3l-ps (MGI:1332659,MGI:3642435)
chr8	26504701	26513872	8p21.2	8p21.2	603970	PNMA2, MA2, MM2	Paraneoplastic MA antigen 2	PNMA2	10687	ENSG00000240694			Pnma2 (MGI:2444129)
chr8	26514031	26658175	8p21	8p21.2	602463	DPYSL2, DRP2, CRMP2	Dihydropyrimidinase-like 2	DPYSL2	1808	ENSG00000092964			Dpysl2 (MGI:1349763)
chr8	26748150	26867379	8p21	8p21.2	104221	ADRA1C	Adrenergic, alpha-1C-, receptor	ADRA1A	148	ENSG00000120907	.03cM from NEFL		Adra1a (MGI:104773)
chr8	27235308	27258404	8p21.2	8p21.2	620740	STMN4, RB3	Stathmin 4	STMN4	81551	ENSG00000015592			Stmn4 (MGI:1931224)
chr8	27284886	27311272	8p21.1	8p21.2	617007	TRIM35, MAIR, HLS5, KIAA1098	Tripartite motif-containing protein 35	TRIM35	23087	ENSG00000104228			Trim35 (MGI:1914104)
chr8	27310506	27459391	8p22-p11.2	8p21.2	601212	PTK2B, FAK2, PYK2	Protein tyrosine kinase-2, beta (focal adhesion kinase 2)	PTK2B	2185	ENSG00000120899			Ptk2b (MGI:104908)
chr8	27459756	27479261	8p21	8p21.2	118502	CHRNA2	Cholinergic receptor, nicotinic, alpha polypeptide-2	CHRNA2	1135	ENSG00000120903		Epilepsy, nocturnal frontal lobe, type 4, 610353 (3), Autosomal dominant	Chrna2 (MGI:87886)
chr8	27491143	27548626	8p21-p12	8p21.2-p21.1	132811	EPHX2	Epoxide hydrolase 2, cytoplasmic	EPHX2	2053	ENSG00000120915		{Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3), Autosomal recessive, Autosomal dominant	Ephx2 (MGI:99500)
chr8	27500001	29000000	8p21.1		240400	GULOP, GULO	Gulonolactone (L-) oxidase pseudogene	GULOP	2989			Scurvy (3)	
chr8	27500001	72000000	8p21.1-q13.3		611945	SPG37	Spastic paraplegia 37		100049159		max lod at D8S601	Spastic paraplegia 37, autosomal dominant, 611945 (2), Autosomal dominant	
chr8	27596917	27614700	8p21-p12	8p21.1	185430	CLU, CLI, SGP2, TRPM2	Clusterin (complement lysis inhibitor, SP-40,40; sulfated glycoprotein 2; testosterone-repressed prostate message-2; apolipoprotein J)	CLU	1191	ENSG00000120885			Clu (MGI:88423)
chr8	27633463	27734141	8p21	8p21.1	602728	SCARA3, MSLR1, CSR	Scavenger receptor class A, member 3	SCARA3	51435	ENSG00000168077			Scara3 (MGI:2444418)
chr8	27733316	27772640	8p21.1	8p21.1	619100	CCDC25	Coiled-coil domain-containing protein 25	CCDC25	55246	ENSG00000147419			Ccdc25 (MGI:1914429)
chr8	27771974	27819660	8p21.1	8p21.1	609353	ESCO2, RBS, JHS	Establishment of sister chromatid cohesion N-acetyltransferase 2	ESCO2	157570	ENSG00000171320		Juberg-Hayward syndrome, 216100 (3), Autosomal recessive; Roberts-SC phocomelia syndrome, 268300 (3), Autosomal recessive	Esco2 (MGI:1919238)
chr8	27809624	27837817	8p21.1	8p21.1	611210	PBK, TOPK	PDZ-binding kinase	PBK	55872	ENSG00000168078			Pbk (MGI:1289156)
chr8	27869883	27992673	8p21.1	8p21.1	611306	SCARA5	Scavenger receptor class A, member 5	SCARA5	286133	ENSG00000168079			Scara5 (MGI:1918395)
chr8	28021964	28083936	8p21.1	8p21.1	619088	NUGGC, SLIPGC	Nuclear GTPase, germinal center-associated	NUGGC	389643	ENSG00000189233			Nuggc (MGI:2685446)
chr8	28090232	28191153	8p21.1	8p21.1	612722	ELP3, KAT9	Elongator acetytransferase complex, subunit 3	ELP3	55140	ENSG00000134014			Elp3 (MGI:1921445)
chr8	28316988	28343351	8p21	8p21.1	601459	PNOC, PPNOC	Prepronociceptin	PNOC	5368	ENSG00000168081			Pnoc (MGI:105308)
chr8	28345590	28386460	8p21.1	8p21.1	609494	ZNF395, PBF, HDBP2	Zinc finger protein 395	ZNF395	55893	ENSG00000186918			Zfp395 (MGI:2682318)
chr8	28428412	28490229	8p21.1	8p21.1	608519	FBXO16, FBX16	F-box only protein 16	FBXO16	157574	ENSG00000214050	?8p12		Fbxo16 (MGI:1354706)
chr8	28494212	28574258	8p21	8p21.1	606143	FZD3	Frizzled class receptor 3	FZD3	7976	ENSG00000104290			Fzd3 (MGI:108476)
chr8	28607736	28755599	8p21	8p21.1	605744	EXTL3, EXTR1, ISDNA	Exostosin-like 3	EXTL3	2137	ENSG00000012232		Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive	Extl3 (MGI:1860765)
chr8	28767661	28889969	8p21.1	8p21.1	611352	INTS9, INT9, RC74	Integrator complex subunit 9	INTS9	55756	ENSG00000104299			Ints9 (MGI:1098533)
chr8	28890116	29053270	8p21.1-p12	8p21.1-p12	618610	HMBOX1, TAH1, PBHNF	Homeobox-containing protein 1	HMBOX1	79618	ENSG00000147421			Hmbox1 (MGI:2445066)
chr8	29000001	105100000	8p12-q22		611073	AD12	Alzheimer disease 12		100188830		max lod at D8S1119	{Alzheimer disease 12}, 611073 (2)	
chr8	29000001	36700000	8p12		612348	THPH9	Thrombophilia due to decreased release of tissue plasminogen activator		137299211			?Thrombophilia 9 due to decreased release of tissue plasminogen, 612348 (2)	
chr8	29067278	29263388	8p12	8p12	607350	KIF13B, GAKIN, KIAA0639	Kinesin family member 13B	KIF13B	23303	ENSG00000197892			Kif13b (MGI:1098265)
chr8	29333064	29350684	8p12-p11	8p12	602747	DUSP4, MKP2, HVH2	Dual-specificity phosphatase-4 (MAP kinase phosphatase-2)	DUSP4	1846	ENSG00000120875			Dusp4 (MGI:2442191)
chr8	30063003	30083208	8p12	8p12	614768	TMEM66, SARAF	Transmembrane protein 66	SARAF	51669	ENSG00000133872			Saraf (MGI:1915137)
chr8	30095408	30138348	8p21.2-p21.1	8p12	607338	LEPROTL1	Leptin receptor overlapping transcript-like 1	LEPROTL1	23484	ENSG00000104660			Leprotl1 (MGI:1915442)
chr8	30131671	30144665	8p12	8p12	611940	MBOAT4, GOAT	Membrane-bound O-acetyltransferase domain-containing 4	MBOAT4	619373	ENSG00000177669			Mboat4 (MGI:2685017)
chr8	30156369	30183639	8p12-p11	8p12	612963	DCTN6, WS3, P27	Dynactin 6	DCTN6	10671	ENSG00000104671			Dctn6 (MGI:1343154)
chr8	30384541	30572256	8p12	8p12	601558	RBPMS	RNA-binding protein, mRNA-processing factor	RBPMS	11030	ENSG00000157110			Rbpms (MGI:1334446)
chr8	30578318	30658236	8p21-p12	8p12	189964	GTF2E2, TTD6	General transcription factor IIE, polypeptide 2, beta subunit, 34kD	GTF2E2	2961	ENSG00000197265		Trichothiodystrophy 6, nonphotosensitive, 616943 (3), Autosomal recessive	Gtf2e2 (MGI:1915403)
chr8	30678066	30727846	8p21.1	8p12	138300	GSR, GSRD, CNSHA10	Glutathione reductase	GSR	2936	ENSG00000104687		Anemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient, 618660 (3), Autosomal recessive	Gsr (MGI:95804)
chr8	30729135	30767006	8p12-p11.2	8p12	602155	UBXN8, D8S2298E, REP8	UBX domain protein 8	UBXN8	7993	ENSG00000104691			Ubxn8 (MGI:1337129)
chr8	30785616	30812818	8p12-p11.2	8p12	176916	PPP2CB	Protein phosphatase-2 (formerly 2A), catalytic subunit, beta isoform	PPP2CB	5516	ENSG00000104695	pseudogene on 16		Ppp2cb (MGI:1321161)
chr8	30831544	30913008	8p12	8p12	605795	TEX15, SPGF25	Testis-expressed gene 15	TEX15	56154	ENSG00000133863		Spermatogenic failure 25, 617960 (3), Autosomal recessive	Tex15 (MGI:1934816)
chr8	30995802	31033356	8p12	8p12	618041	PURG, PURGA, PURGB	Purine-rich element-binding protein G	PURG	29942	ENSG00000172733			Purg (MGI:1922279)
chr8	31033810	31176138	8p12-p11.2	8p12	604611	RECQL2, RECQ3, WRN	DNA helicase, RecQ-like 2	WRN	7486	ENSG00000165392		Werner syndrome, 277700 (3), Autosomal recessive	Wrn (MGI:109635)
chr8	31639245	32774046	8p22-p11	8p12	142445	NRG1, HGL, HRGA, ARIA	Neuregulin 1 (heregulin, alpha, 45kD; ERBB2 p185-activator)	NRG1	3084	ENSG00000157168		{?Schizophrenia, susceptibility to}, 603013 (1)	Nrg1 (MGI:96083)
chr8	33308061	33473146	8p12	8p12	616931	FUT10, FUCTX	Fucosyltransferase 10	FUT10	84750	ENSG00000172728			Fut10 (MGI:2384748)
chr8	33498722	33513135	8p12	8p12	614426	TTI2, C8orf41, MRT39	TELO2-interacting protein 2	TTI2	80185	ENSG00000129696		Intellectual developmental disorder, autosomal recessive 39, 615541 (3), Autosomal recessive	Tti2 (MGI:2384576)
chr8	33513475	33513578	8p12	8p12	616664	SNORD13	Small nucleolar RNA, C/D box, 13	SNORD13	692084	ENSG00000239039			
chr8	33547754	33567128	8p12	8p12	620523	RNF122	RING finger protein 122	RNF122	79845	ENSG00000133874			Rnf122 (MGI:1916117)
chr8	33591330	33600023	8p12	8p12	618368	DUSP26, MKP8, LDP4, NEAP	Dual-specificity phosphatase 26	DUSP26	78986	ENSG00000133878			Dusp26 (MGI:1914209)
chr8	35235475	35796540	8p12	8p12	616466	UNC5D, UNC5H4	unc-5 netrin receptor D	UNC5D	137970	ENSG00000156687			Unc5d (MGI:2389364)
chr8	36700001	45200000	8p11		613523	SCLL	Chromosome 8p11 myeloproliferative syndrome (stem cell leukemia/lymphoma)				translocation of FGFR1 (8p11) and various partners	Chromosome 8p11 myeloproliferative syndrome, 613523 (4)	
chr8	36784374	36936125	8p11.23	8p11.23	615215	KCNU1, SLO3, SPGF79	Potassium channel, subfamily U, member 1	KCNU1	157855	ENSG00000215262		Spermatogenic failure 79, 620196 (3), Autosomal recessive	Kcnu1 (MGI:1202300)
chr8	37695782	37700019	8p11.23	8p11.23	617045	ZNF703, ZEPPO1, NLZ1	Zinc finger protein 703	ZNF703	80139	ENSG00000183779			Zfp703 (MGI:2662729)
chr8	37736634	37758422	8p11.2	8p11.23	611605	ERLIN2, SPFH2, C8orf2, SPG18A, SPG18B	Endoplasmic reticulum lipid raft-associated protein 2	ERLIN2	11160	ENSG00000147475		Spastic paraplegia 18A, autosomal dominant, 620512 (3), Autosomal dominant; Spastic paraplegia 18B, autosomal recessive, 611225 (3), Autosomal recessive	Erlin2 (MGI:2387215)
chr8	37762546	37779768	8p11.2	8p11.23	604436	PLPBP, PROSC, EPVB6D, EPEO1	Pyridoxal phosphate-binding protein	PLPBP	11212	ENSG00000147471		Epilepsy, early-onset, 1, vitamin B6-dependent, 617290 (3), Autosomal recessive	Plpbp (MGI:1891207)
chr8	37796883	37844896	8p12	8p11.23	606823	ADGRA2, GPR124, TEM5, KIAA1531	Adhesion G protein-coupled receptor A2	ADGRA2	25960	ENSG00000020181			Adgra2 (MGI:1925810)
chr8	37843268	37849861	8p11.23	8p11.23	607013	BRF2, BRFU, TFIIIB50	BRF2 subunit of RNA polymerase III transcription initiation factor	BRF2	55290	ENSG00000104221			Brf2 (MGI:1913903)
chr8	37858618	37899497	8p11.22	8p11.23	608737	RAB11FIP1, RCP	RAB11 family-interacting protein 1	RAB11FIP1	80223	ENSG00000156675			Rab11fip1 (MGI:1923017)
chr8	37962990	37966599	8p12-p11.2	8p11.23	109691	ADRB3	Adrenergic, beta-3-, receptor	ADRB3	155	ENSG00000188778		{Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant	Adrb3 (MGI:87939)
chr8	38030534	38060365	8p12	8p11.23	602223	EIF4EBP1, 4EBP1	Eukaryotic translation initiation factor-4E binding protein-1	EIF4EBP1	1978	ENSG00000187840			Eif4ebp1 (MGI:103267)
chr8	38105493	38140080	8p11.2	8p11.23	604782	ASH2L, ASH2L2, ASH2L1	ASH2, Drosophila, homolog of	ASH2L	9070	ENSG00000129691			Ash2l (MGI:1344416)
chr8	38142700	38150952	8p11.2	8p11.23	600617	STAR	Steroidogenic acute regulatory protein	STAR	6770	ENSG00000147465		Lipoid adrenal hyperplasia, 201710 (3), Autosomal recessive	Star (MGI:102760)
chr8	38163321	38176730	8p11.23	8p11.23	607281	LSM1, CASM	LSM1 homolog, mRNA degradation-associated	LSM1	27257	ENSG00000175324			Lsm1 (MGI:1914457)
chr8	38176855	38213301	8p11.23	8p11.23	603884	BAG4, SODD	BAG cochaperone 4	BAG4	9530	ENSG00000156735			Bag4 (MGI:1914634)
chr8	38231585	38273647	8p11.23	8p11.23	615003	DDHD2, KIAA0725, SPG54	DDHD domain-containing protein 2	DDHD2	23259	ENSG00000085788		Spastic paraplegia 54, autosomal recessive, 615033 (3), Autosomal recessive	Ddhd2 (MGI:1919358)
chr8	38263130	38269224	8p11.23	8p11.23	610626	PLPP5, PPAPDC1B, HTPAP	Phospholipid phosphatase 5	PLPP5	84513	ENSG00000147535			Plpp5 (MGI:1919160)
chr8	38269704	38382271	8p12	8p11.23	607083	NSD3, WHSC1L1	Nuclear receptor-binding SET domain protein 3	NSD3	54904	ENSG00000147548	pseudogene on 17q21; fusion partner with NUP98 in AML		Nsd3 (MGI:2142581)
chr8	38382431	38409527	8p11.23	8p11.23	620380	LETM2	Leucine zipper/EF-hand-containing transmembrane protein 2	LETM2	137994	ENSG00000165046			Letm2 (MGI:2444979)
chr8	38411143	38468635	8p11.2-p11.1	8p11.23	136350	FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL	Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2)	FGFR1	2260	ENSG00000077782	fused with BCR, CEP1, FOP, FIM in hematologic malignancies	Pfeiffer syndrome, 101600 (3), Autosomal dominant; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3), Autosomal dominant; Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; Hartsfield syndrome, 615465 (3), Autosomal dominant; Trigonocephaly 1, 190440 (3), Autosomal dominant; Osteoglophonic dysplasia, 166250 (3), Autosomal dominant; Encephalocraniocutaneous lipomatosis, somatic mosaic, 613001 (3)	Fgfr1 (MGI:95522)
chr8	38728582	38853028	8p11	8p11.22	605301	TACC1	Transforming, acidic, coiled-coil-containing protein-1	TACC1	6867	ENSG00000147526			Tacc1 (MGI:2443510)
chr8	38901346	38973912	Chr.8	8p11.22	607773	PLEKHA2, TAPP2	Pleckstrin homology domain-containing protein, family A, member 2	PLEKHA2	59339	ENSG00000169499			Plekha2 (MGI:1928144)
chr8	38974228	38988663	8p11.23	8p11.22	610700	HTRA4	HTRA serine peptidase 4	HTRA4	203100	ENSG00000169495			Htra4 (MGI:3036260)
chr8	38988808	38996990	8p11.22	8p11.22	610081	TM2D2, BLP1	TM2 domain-containing protein 2	TM2D2	83877	ENSG00000169490			Tm2d2 (MGI:1916992)
chr8	38996973	39105261	8p11.23	8p11.22	602713	ADAM9, MDC9, MCMP, CORD9	ADAM metallopeptidase domain 9	ADAM9	8754	ENSG00000168615		Cone-rod dystrophy 9, 612775 (3), Autosomal recessive	Adam9 (MGI:105376)
chr8	39107529	39284917	8q11	8p11.22	618602	ADAM32	ADAM metallopeptidase domain 32	ADAM32	203102	ENSG00000197140			Adam32 (MGI:2653822)
chr8	39584568	39730065	8p11.22	8p11.22	619495	ADAM18, TMDCIII	ADAM metallopeptidase domain-containing protein 18	ADAM18	8749	ENSG00000168619			Adam18 (MGI:105986)
chr8	39743735	39838227	8p11.2	8p11.22	601533	ADAM2, FTNB, PH30, CRYN1, CRYN2	ADAM metallopeptidase domain 2 (fertilin, beta)	ADAM2	2515	ENSG00000104755			Adam2 (MGI:1340894)
chr8	39913891	39928790	8p12-p11	8p11.21	147435	IDO1, INDO, IDO	Indoleamine 2,3-dioxygenase	IDO1	3620	ENSG00000131203			Ido1 (MGI:96416)
chr8	39934651	40016392	8p12	8p11.21	612129	IDO2, INDOL1	Indoleamine 2,3-dioxygenase 2	IDO2	169355	ENSG00000188676			Ido2 (MGI:2142489)
chr8	40153482	40155310	8p11.2	8p11.21	607702	TCIM, C8orf4	Transcriptional and immune response regulator	TCIM	56892	ENSG00000176907			Tcim (MGI:1916318)
chr8	41261962	41309473	8p12-p11.1	8p11.21	604156	SFRP1, FRP, SARP2	Secreted frizzled-related protein 1	SFRP1	6422	ENSG00000104332			Sfrp1 (MGI:892014)
chr8	41490396	41510980	8p11.21	8p11.21	609453	GOLGA7, GCP16	Golgin A7	GOLGA7	51125	ENSG00000147533			Golga7 (MGI:1931029)
chr8	41529261	41545030	8p11.21	8p11.21	610611	GINS4, SLD5	GINS complex subunit 4	GINS4	84296	ENSG00000147536			Gins4 (MGI:1923847)
chr8	41578200	41625001	8p11.21	8p11.21	608143	AGPAT6, LPAATZ	1-acylglycerol-3-phosphate O-acyltransferase 6	GPAT4	137964	ENSG00000158669			Gpat4 (MGI:2142716)
chr8	41645177	41650817	8p11.2	8p11.21	610772	NKX6-3, NKX6.3	NK6, Drosophila, homolog of	NKX6-3	157848	ENSG00000165066			Nkx6-3 (MGI:1921811)
chr8	41653225	41896741	8p11.2	8p11.21	612641	ANK1, SPH1	Ankyrin-1, erythrocytic	ANK1	286	ENSG00000029534		Spherocytosis, type 1, 182900 (3), Autosomal recessive, Autosomal dominant	Ank1 (MGI:88024)
chr8	41929479	42051987	8p11	8p11.21	601408	KAT6A, MYST3, MOZ, ZNF220, ARTHS	K(lysine) acetyltransferase 6A	KAT6A	7994	ENSG00000083168		Arboleda-Tham syndrome, 616268 (3), Autosomal dominant	Kat6a (MGI:2442415)
chr8	42153063	42171183	8p11.2	8p11.21	610469	AP3M2, CLA20	Adaptor-related protein complex 3, mu-2 subunit	AP3M2	10947	ENSG00000070718			Ap3m2 (MGI:1929214)
chr8	42174718	42207565	8p12	8p11.21	173370	PLAT, TPA	Plasminogen activator, tissue type	PLAT	5327	ENSG00000104368			Plat (MGI:97610)
chr8	42271302	42332460	8p11.2	8p11.21	603258	IKBKB, NFKBIKB, IMD15B, IMD15A	Inhibitor of nuclear factor kappa-B kinase, subunit beta	IKBKB	3551	ENSG00000104365		Immunodeficiency 15B, 615592 (3), Autosomal recessive; Immunodeficiency 15A, 618204 (3), Autosomal dominant	Ikbkb (MGI:1338071)
chr8	42338494	42371808	8p11.2	8p11.21	174760	POLB	Polymerase (DNA directed), beta	POLB	5423	ENSG00000070501			Polb (MGI:97740)
chr8	42374063	42391322	8p11.2-p11.1	8p11.21	605417	DKK4	Dickkopf WNT signaling pathway inhibitor 4	DKK4	27121	ENSG00000104371			Dkk4 (MGI:2385299)
chr8	42391880	42405937	8p11.2	8p11.21	610029	VDAC3	Voltage-dependent anion channel 3	VDAC3	7419	ENSG00000078668			Vdac3 (MGI:106922)
chr8	42416475	42541954	8p11.21	8p11.21	158378	SLC20A2, MLVAR, GLVR2, IBGC1, IBGC2	Solute carrier family 20, phosphate transporter, member 2	SLC20A2	6575	ENSG00000168575		Basal ganglia calcification, idiopathic, 1, 213600 (3), Autosomal dominant	Slc20a2 (MGI:97851)
chr8	42697366	42737407	8p11.2	8p11.21	118508	CHRNB3	Cholinergic receptor, nicotinic, beta polypeptide-3	CHRNB3	1142	ENSG00000147432			Chrnb3 (MGI:106212)
chr8	42752620	42768786	8p11.21	8p11.21	606888	CHRNA6	Cholinergic receptor, neuronal nicotinic, alpha polypeptide 6	CHRNA6	8973	ENSG00000147434			Chrna6 (MGI:106213)
chr8	42836674	42843325	8p11.21	8p11.21	609520	THAP1, DYT6	THAP domain-containing protein 1	THAP1	55145	ENSG00000131931		Dystonia 6, torsion, 602629 (3), Autosomal dominant	Thap1 (MGI:1921004)
chr8	42849637	42897299	8p11.2	8p11.21	614649	RNF170, SNAX1, SPG85	RING finger protein 170	RNF170	81790	ENSG00000120925		Ataxia, sensory, 1, autosomal dominant, 608984 (3), Autosomal dominant; Spastic paraplegia 85, autosomal recessive, 619686 (3), Autosomal recessive	Rnf170 (MGI:1924983)
chr8	42896978	43030535	8p11.21	8p11.21	607825	HOOK3, HK3	Hook, Drosophila, homolog of, 3	HOOK3	84376	ENSG00000168172			Hook3 (MGI:2443554)
chr8	43056323	43085785	8p22-q11	8p11.21	134635	FNTA	Farnesyltransferase, CAAX box, alpha	FNTA	2339	ENSG00000168522	related FNTAL1 on 11, FNTAL2 on 13		Fnta (MGI:104683)
chr8	43093515	43123434	8p11	8p11.21	615247	POMK, SGK196, MDDGA12, MDDGC12	Protein-O-mannose kinase	POMK	84197	ENSG00000185900	mutation in 1 MDDGC12 family has been reported	?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3), Autosomal recessive	Pomk (MGI:1921903)
chr8	43140464	43202855	8p11.1	8p11.21-p11.1	610453	HGSNAT, TMEM76, MPS3C, RP73	Heparan-alpha-glucosaminide N-acetyltransferase	HGSNAT	138050	ENSG00000165102		Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3), Autosomal recessive; Retinitis pigmentosa 73, 616544 (3), Autosomal recessive	Hgsnat (MGI:1196297)
chr8	43292370	43365175	8p11.1	8p11.1	608915	POTEA, POTE8	POTE ankyrin domain family, member A	POTEA	340441	ENSG00000188877			Ankrd68,Potefam1,Potefam2 (MGI:1914825,MGI:1918231,MGI:3644757)
chr8	45200001	145138636	8q		600668	CCAL1	Chondrocalcinosis 1		882			Chondrocalcinosis with early-onset osteoarthritis, 600668 (2), Autosomal dominant	
chr8	45200001	145138636	8q		606789	HBFQTL4	Fetal hemoglobin quantitative trait locus 4		171515			Fetal hemoglobin quantitative trait locus 4, 606789 (2)	
chr8	45200001	72000000	8q11.1-q13.3		128700	PAFC	Preauricular fistulae, congenital		404715		between D8S532 and D8S279	?Preauricular fistulae, congenital, 128700 (2), Autosomal dominant	
chr8	46840886	46855785	8q11.2	8q11.1	609543	LINC00293, BEYLA	Long intergenic noncoding RNA 293	LINC00293	497634	ENSG00000253314			
chr8	47200001	69600000	8q11.2-q13.2		609197	GCCD3, FGD3, GCCD2	Glucocorticoid deficiency 3		619477		between D8S285 and D8S1718	Glucocorticoid deficiency 3, 609197 (2), Autosomal recessive	
chr8	47260878	47736306	8q11.21	8q11.21	615384	SPIDR, KIAA0146, ODG9	Scaffolding protein involved in DNA repair	SPIDR	23514	ENSG00000164808		Ovarian dysgenesis 9, 619665 (3), Autosomal recessive	Spidr (MGI:1924834)
chr8	47736913	47738164	8p11.2-p11.1	8q11.21	116898	CEBPD	CCAAT/enhancer-binding protein (C/EBP), delta	CEBPD	1052	ENSG00000221869	earlier mapped to 8q11		Cebpd (MGI:103573)
chr8	47773111	47960136	8q11	8q11.21	600899	PRKDC, HYRC1, DNPK1, IMD26	Protein kinase, DNA-activated, catalytic polypeptide (hyperradiosensitivity of murine SCID mutation, complementing-1)	PRKDC	5591	ENSG00000253729		Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3), Autosomal recessive	Prkdc (MGI:104779)
chr8	47960941	47978160	8q11.2	8q11.21	602638	MCM4, NKGCD, NKCD, IMD54	Minichromosome maintenance complex component 4	MCM4	4173	ENSG00000104738		Immunodeficiency 54, 609981 (3), Autosomal recessive	Mcm4 (MGI:103199)
chr8	47997437	48064708	8q11.21	8q11.21	603001	UBE2V2, UEV2, DDVIT1, EDPF1, MMS2	Ubiquitin-conjugating enzyme E2 V2	UBE2V2	7336	ENSG00000169139			Ube2v2 (MGI:1917870)
chr8	48710789	48735311	8q11.21	8q11.21	619564	CLXN, EFCAB1, CILD53	Calaxin	CLXN	79645	ENSG00000034239		Ciliary dyskinesia, primary, 53, 620642 (3), Autosomal recessive	Clxn (MGI:1914043)
chr8	48917598	48921429	8q11	8q11.21	602150	SNAI2, SLUG, WS2D	Snail family transcriptional repressor 2	SNAI2	6591	ENSG00000019549			Snai2 (MGI:1096393)
chr8	49909796	50796692	8q11	8q11.21	608714	SNTG1, SYN4	Syntrophin, gamma-1	SNTG1	54212	ENSG00000147481	implicated in idiopathic scoliosis		Sntg1 (MGI:1918346)
chr8	51319577	51809445	8q11	8q11.22-q11.23	615904	PXDNL, PMR1, VPO2	Peroxidasin, Drosophila, homolog-like	PXDNL	137902	ENSG00000147485			
chr8	51817575	51899186	8q11.23	8q11.23	620091	PCMTD1	Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain-containing protein 1	PCMTD1	115294	ENSG00000168300			Pcmtd1 (MGI:2441773)
chr8	52110838	52409879	8q11.2	8q11.23	617155	ST18, ZNF387, KIAA0535	Suppression of tumorigenicity 18	ST18	9705	ENSG00000147488			St18 (MGI:2446700)
chr8	52534037	52565430	8q11.23	8q11.23	619670	ALKAL1, FAM150A, AUGB	ALK and LTK ligand 1	ALKAL1	389658	ENSG00000196711			Alkal1 (MGI:3645495)
chr8	52622458	52714435	8q11	8q11.23	606837	RB1CC1, CC1, KIAA0203	RB1-inducible coiled-coil 1	RB1CC1	9821	ENSG00000023287		Breast cancer, somatic, 114480 (3)	Rb1cc1 (MGI:1341850)
chr8	52939182	52943734	8q11.23	8q11.23	600730	NPBWR1, GPR7	Neuropeptides B and W receptor 1	NPBWR1	2831	ENSG00000288611	previously assigned to 10q11.2-q21.1 by FISH		Npbwr1 (MGI:891989)
chr8	53225724	53251637	8q11.2	8q11.23	165196	OPRK1	Opiate receptor, kappa-1	OPRK1	4986	ENSG00000082556			Oprk1 (MGI:97439)
chr8	53715543	53843245	8q11.23	8q11.23	608861	ATP6V1H, NBP1, VMA13	ATPase, H+ transporting V1, subunit H	ATP6V1H	51606	ENSG00000047249			Atp6v1h (MGI:1914864)
chr8	53851795	53959303	8q11.23	8q11.23	607193	RGS20	Regulator of G protein signaling 20	RGS20	8601	ENSG00000147509			Rgs20 (MGI:1929866)
chr8	53966556	54022448	8q11.23	8q11.23	601425	TCEA1, TF2S, GTF2S	Transcription elongation factor A, SII, 1	TCEA1	6917	ENSG00000187735	previously mapped to 3p22-p21.3		Tcea1 (MGI:1196624)
chr8	54042987	54101947	Chr.8	8q11.23	605599	LYPLA1	Lysophospholipase I	LYPLA1	10434	ENSG00000120992			Lypla1 (MGI:1344588)
chr8	54135241	54148514	8q11.2-q13	8q11.23	611828	MRPL15	Mitochondrial ribosomal protein L15	MRPL15	29088	ENSG00000137547			Mrpl15 (MGI:1351639)
chr8	54457935	54460892	8q12-q13	8q11.23	610928	SOX17, VUR3	SRY-box 17	SOX17	64321	ENSG00000164736		Vesicoureteral reflux 3, 613674 (3), Autosomal dominant	Sox17 (MGI:107543)
chr8	54559185	54871234	8q11-q13	8q11.23-q12.1	603937	RP1, ORP1	RP1 axonemal microtubule-associated protein	RP1	6101	ENSG00000104237		Retinitis pigmentosa 1, 180100 (3), Autosomal recessive, Autosomal dominant	Rp1 (MGI:1341105)
chr8	54600001	60600000	8q12.1		612587	ANIB10	Aneurysm, intracranial berry, 10		100271689		associated with rs10958409	{Aneurysm, intracranial berry, 10}, 612587 (2)	
chr8	54600001	65100000	8q12		608765	IS3	Scoliosis, isolated, susceptibility to, 3					{Scoliosis, isolated, susceptibility to, 3}, 608765 (2)	
chr8	54600001	72000000	8q12-q13		611046	MTBS2	Mycobacterium tuberculosis, susceptibility to, 2		100188829		max lod at D8S1723	{Mycobacterium tuberculosis, susceptibility to, 2}, 611046 (2)	
chr8	55773446	55826445	8q11	8q12.1	606461	TGS1, NCOA6IP, PIMT	Trimethylguanosine synthase 1	TGS1	96764	ENSG00000137574			Tgs1 (MGI:2151797)
chr8	55879835	56014169	8q13-qter	8q12.1	165120	LYN, SAIDV	LYN protooncogene, SRC family tyrosine kinase	LYN	4067	ENSG00000254087		Autoinflammatory disease, systemic, with vasculitis, 620376 (3), Autosomal dominant	Lyn (MGI:96892)
chr8	56067254	56074506	8q12.1	8q12.1	603682	RPS20	Ribosomal protein S20	RPS20	6224	ENSG00000008988			Rps20 (MGI:1914677)
chr8	56112942	56113982	8q11	8q12.1	190060	MOS, MSV, OZEMA20	MOS protooncogene, serine/threonine kinase	MOS	4342	ENSG00000172680		Oocyte/zygote/embryo maturation arrest 20, 620383 (3), Autosomal recessive	Mos (MGI:97052)
chr8	56160909	56211273	8q12	8q12.1	603026	PLAG1, SGPA, PSA, SRS4	PLAG1 zinc finger protein	PLAG1	5324	ENSG00000181690	fused with CTNNB1 in SGPA	Adenomas, salivary gland pleomorphic, somatic, 181030 (3); Silver-Russell syndrome 4, 618907 (3), Autosomal dominant	Plag1 (MGI:1891916)
chr8	56211789	56218809	8q12	8q12.1	611238	CHCHD7	Coiled-coil-helix-coiled-coil-helix domain-containing protein 7	CHCHD7	79145	ENSG00000170791			Chchd7 (MGI:1913683)
chr8	56300005	56320175	8q12.1	8q12.1	608989	RDHE2	Retinal dehydrogenase, epidermal, 2	SDR16C5	195814	ENSG00000170786			Sdr16c5 (MGI:2668443)
chr8	56440957	56446641	8q23-q24	8q12.1	131330	PENK	Proenkephalin	PENK	5179	ENSG00000181195			Penk (MGI:104629)
chr8	56957931	56993867	8q12.1	8q12.1	614010	IMPAD1, GPAPP, IMPA3	Inositol monophosphatase domain-containing protein 1	BPNT2	54928	ENSG00000104331		Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3), Autosomal recessive	Bpnt2 (MGI:1915720)
chr8	57994523	58148784	8q12.1	8q12.1	611394	FAM110B, C8orf72	Family with sequence similarity 110, member B	FAM110B	90362	ENSG00000169122			Fam110b (MGI:1916593)
chr8	58411361	58451501	8q12.1	8q12.1	610686	UBXN2B, LOC137886, p37	UBX domain protein 2B	UBXN2B	137886	ENSG00000215114			Ubxn2b (MGI:1915303)
chr8	58490178	58500163	8q11-q12	8q12.1	118455	CYP7A1, CYP7	Cytochrome P450, subfamily VII (cholesterol 7-alpha-monooxygenase), polypeptide 1	CYP7A1	1581	ENSG00000167910			Cyp7a1 (MGI:106091)
chr8	58553261	58582858	8q12.1	8q12.1	602217	SDCBP, TACIP18, MDA9	Syndecan-binding protein	SDCBP	6386	ENSG00000137575			Sdcbp (MGI:1337026)
chr8	58583504	58659853	8q12-q13	8q12.1	603043	NSMAF, FAN	Neutral sphingomyelinase activation-associated factor	NSMAF	8439	ENSG00000035681			Nsmaf (MGI:1341864)
chr8	58805412	59119147	8q12.1	8q12.1	606863	TOX, KIAA0808	Thymus high mobility group box protein, mouse, homolog of	TOX	9760	ENSG00000198846			Tox (MGI:2181659)
chr8	60185412	60281400	8q11-q12	8q12.1	114815	CA8, CALS, CARP, SCAR34	Carbonic anhydrase VIII	CA8	767	ENSG00000178538		Spinocerebellar ataxia, autosomal recessive 34, 613227 (3), Autosomal recessive	Car8 (MGI:88253)
chr8	60516910	60623644	8q12.1	8q12.1-q12.2	179509	RAB2, RAB2A	Ras-associated protein RAB2	RAB2A	5862	ENSG00000104388			Rab2a (MGI:1928750)
chr8	60600001	85900000	8q12.2-q21.2		600257	DEL8q12q21, C8DELq12q21	Bor-Duane hydrocephalus contiguous gene syndrome (chromosome 8q12.1-q21.2 deletion syndrome)					Bor-Duane hydrocephalus contiguous gene syndrome, 600257 (4), Autosomal dominant	
chr8	60600001	85900000	8q12.2-q21.2		123155	HDCPH1	Hydrocephalus, autosomal dominant		137299210			?Hydrocephalus, autosomal dominant, 123155 (2), Autosomal dominant	
chr8	60678740	60868028	8q12.1	8q12.2	608892	CHD7, HH5	Chromodomain helicase DNA binding protein 7	CHD7	55636	ENSG00000171316		Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3), Autosomal dominant; CHARGE syndrome, 214800 (3), Autosomal dominant	Chd7 (MGI:2444748)
chr8	60964848	61501629	8q12.2	8q12.2-q12.3	611292	CLVS1, RLBP1L1, CRALBPL	Clavesin 1	CLVS1	157807	ENSG00000177182			Clvs1 (MGI:1921688)
chr8	61500556	61714592	8q12.1	8q12.3	600582	ASPH, HAAH, FDLAB	Aspartate beta-hydroxylase (junctin; junctate)	ASPH	444	ENSG00000198363		Traboulsi syndrome, 601552 (3), Autosomal recessive	Asph (MGI:1914186)
chr8	62248854	62999652	8q12.13	8q12.3	612872	NKAIN3	Na+/K+ transporting ATPase-interacting 3	NKAIN3	286183	ENSG00000185942			Nkain3 (MGI:2444830)
chr8	63015079	63038806	8q12.3	8q12.3	601509	GGH	Gamma-glutamyl hydrolase	GGH	8836	ENSG00000137563			Ggh (MGI:1329035)
chr8	63058409	63086053	8q13.1-q13.3	8q12.3	600415	TTPA, TTP1, AVED	Tocopherol, alpha, transfer protein	TTPA	7274	ENSG00000137561		Ataxia with isolated vitamin E deficiency, 277460 (3), Autosomal recessive	Ttpa (MGI:1354168)
chr8	63168553	63212788	8q12.3	8q12.3	618669	YTHDF3	YTH N6-methyladenosine RNA-binding protein 3	YTHDF3	253943	ENSG00000185728			Ythdf3 (MGI:1918850)
chr8	64580365	64583627	8q13	8q12.3	613483	BHLHE22, BHLHB5, BETA3	Basic helix-loop-helix family, member E22	BHLHE22	27319	ENSG00000180828			Bhlhe22 (MGI:1930001)
chr8	64586575	64798737	8q21.3	8q12.3	603711	CYP7B1, CBAS3, SPG5A	Cytochrome P450, subfamily VIIB (oxysterol 7-alpha-hydroxylase), polypeptide 1	CYP7B1	9420	ENSG00000172817		Spastic paraplegia 5A, autosomal recessive, 270800 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 3, 613812 (3), Autosomal recessive	Cyp7b1 (MGI:104978)
chr8	65100001	116700000	8q13-q23		607731	CMT2H	Charcot-Marie-Tooth disease, axonal, type 2H		619496		between D8S1807 and D8S548	Charcot-Marie-Tooth disease, axonal, type 2H, 607731 (2), Autosomal recessive	
chr8	65100001	72000000	8q13		600383	DEL8q13, C8DELq13	Mesomelia-synostoses syndrome (Chromosome 8q13 deletion syndrome)				contiguous gene deletion of SULF1 and SLCO5A1	Mesomelia-synostoses syndrome, 600383 (4), Autosomal dominant	
chr8	65100001	72000000	8q13		126800	DURS1, DUS	Duane retraction syndrome 1		10674			Duane retraction syndrome 1, 126800 (2), Autosomal dominant	
chr8	65100001	92300000	8q13-q21		121210	FEB1	Febrile seizures, familial, 1		2233			Febrile seizures, familial, 1, 121210 (2), Autosomal dominant	
chr8	65602458	65634177	8q13.1	8q13.1	620385	ARMC1	Armadillo repeat-containing protein 1	ARMC1	55156	ENSG00000104442			Armc1 (MGI:1921502)
chr8	65643889	65778598	8q13.1	8q13.1	619414	MTFR1, CHPPR, KIAA0009	Mitochondrial fission regulator 1	MTFR1	9650	ENSG00000066855			Mtfr1 (MGI:1914722)
chr8	65714334	65842064	8q13-q22	8q13.1	171885	PDE7A, HCP1	Phosphodiesterase-7A	PDE7A	5150	ENSG00000205268			Pde7a (MGI:1202402)
chr8	66014978	66101245	8q13.1	8q13.1	613945	DNAJC5B	DNAJ/HSP40 homolog, subfamily C, member 5, beta	DNAJC5B	85479	ENSG00000147570			Dnajc5b (MGI:1913576)
chr8	66113351	66175485	8q13.1	8q13.1	606469	TRIM55, RNF29, MURF2	Tripartite motif containing 55	TRIM55	84675	ENSG00000147573			Trim55 (MGI:3036269)
chr8	66176376	66178464	8q13	8q13.1	122560	CRH	Corticotropin releasing hormone	CRH	1392	ENSG00000147571			Crh (MGI:88496)
chr8	66429014	66430733	8q13.1	8q13.1	618311	RRS1	Ribosome biogenesis regulator 1 homolog	RRS1	23212	ENSG00000179041			Rrs1 (MGI:1929721)
chr8	66432504	66468907	8q13.1	8q13.1	611083	ADHFE1, HOT, ADH8	Alcohol dehydrogenase, iron-containing, 1	ADHFE1	137872	ENSG00000147576			Adhfe1 (MGI:1923437)
chr8	66562175	66613218	8q22	8q13.1	159405	MYBL1	Avian myeloblastosis viral (v-myb) oncogene homolog like-1	MYBL1	4603	ENSG00000185697			Mybl1 (MGI:99925)
chr8	66628487	66667231	8q13	8q13.1	611745	VCPIP1 VCIP135, KIAA1850	VCP/p47 complex-interacting protein 1	VCPIP1	80124	ENSG00000175073			Vcpip1 (MGI:1917925)
chr8	66712781	66862022	8q12.3-q13.1	8q13.1	607591	SGK3, SGKL, CISK	Serum/glucocorticoid-regulated kinase 3	SGK3	23678	ENSG00000104205			Sgk3 (MGI:2182368)
chr8	66870771	66926382	8q13.1	8q13.1	617545	MCMDC2, C8orf45	Minichromosome maintenance domain-containing protein 2	MCMDC2	157777	ENSG00000178460			Mcmdc2 (MGI:3045334)
chr8	66921690	66925541	8q13	8q13.1	612215	SNHG6, U87HG	Small nucleolar RNA host gene 6	SNHG6	641638				Snhg6 (MGI:1921074)
chr8	66922474	66922549	8q13	8q13.1	612216	SNORD87, U87	Small nucleolar RNA, C/D box, 87	SNORD87	641648	ENSG00000254341	within intron 2 of SNHG6		
chr8	66964103	67028554	8q13.1	8q13.1	617720	PPP1R42, TLRR, LRRC67	Protein phosphatase 1, regulatory subunit 42	PPP1R42	286187	ENSG00000178125			Ppp1r42 (MGI:1921138)
chr8	67043079	67062133	8q13.2	8q13.1	604850	COPS5, JAB1, SGN5	COP9, subunit 5	COPS5	10987	ENSG00000121022			Cops5 (MGI:1349415)
chr8	67064368	67196614	8q13.2	8q13.1-q13.2	611654	CSPP1, CSPP, JBTS21	Centrosome spindle pole-associated protein 1	CSPP1	79848	ENSG00000104218		Joubert syndrome 21, 615636 (3), Autosomal recessive	Cspp1 (MGI:2681832)
chr8	67173511	67343781	8q13	8q13.2	604141	ARFGEF1, ARFGEP1, BIG1, P200, DEDISB	ADP-ribosylation factor guanine nucleotide exchange factor 1	ARFGEF1	10565	ENSG00000066777		Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, 619964 (3), Autosomal dominant	Arfgef1 (MGI:2442988)
chr8	67422038	67746360	8q13	8q13.2	609562	CPA6, CPAH, ETL5, FEB11	Carboxypeptidase A6	CPA6	57094	ENSG00000165078		Febrile seizures, familial, 11, 614418 (3), Autosomal recessive; Epilepsy, familial temporal lobe, 5, 614417 (3), Autosomal recessive, Autosomal dominant	Cpa6 (MGI:3045348)
chr8	67952046	68237032	8q13.1-q13.2	8q13.2	612139	PREX2, DEPDC2	Phosphatidylinositol 3,4,5-trisphosphate-dependent RAC exchanger 2	PREX2	80243	ENSG00000046889			Prex2 (MGI:1923385)
chr8	69466781	69660912	8q13.3	8q13.2-q13.3	610012	SULF1, KIAA1077	Sulfatase 1	SULF1	23213	ENSG00000137573			Sulf1 (MGI:2138563)
chr8	69600001	72000000	8q13.3		603738	BTF3P12, BTF3L2	Basic transcription factor 3 pseudogene 12	BTF3P12	652963				
chr8	69667046	69834978	8q13.3	8q13.3	613543	SLCO5A1, OATPRP4, SLC21A15, OATPJ, OATP5A1	Solute carrier organic anion transporter family, member 5A1	SLCO5A1	81796	ENSG00000137571			Slco5a1 (MGI:2443431)
chr8	70051651	70071252	8q13.3	8q13.3	611781	PRDM14, PFM11	PR domain-containing protein 14	PRDM14	63978	ENSG00000147596			Prdm14 (MGI:3588194)
chr8	70109782	70456446	8q13.2-q13.3	8q13.3	601993	NCOA2, GRIP1, TIF2, SRC2	Nuclear receptor coactivator 2	NCOA2	10499	ENSG00000140396			Ncoa2 (MGI:1276533)
chr8	70573218	70608416	Chr.8	8q13.3	605190	TRAM	Translocating chain-associating membrane protein	TRAM1	23471	ENSG00000067167			Tram1 (MGI:1919515)
chr8	70637266	70669185	8q13.3	8q13.3	618921	LACTB2	Lactamase, beta-2	LACTB2	51110	ENSG00000147592			Lactb2 (MGI:2442551)
chr8	71197433	71548094	8q13.3	8q13.3	601653	EYA1, BOR, BOS1, OTFCS	EYA transcriptional coactivator and phosphatase 1	EYA1	2138	ENSG00000104313	mutation identified in 1 OTFCS family	Branchiootic syndrome 1, 602588 (3), Autosomal dominant; Branchiootorenal syndrome 1, with or without cataracts, 113650 (3), Autosomal dominant; Anterior segment anomalies with or without cataract, 602588 (3), Autosomal dominant; ?Otofaciocervical syndrome, 166780 (3), Autosomal dominant	Eya1 (MGI:109344)
chr8	71841560	71844412	8q13.3	8q13.3	603628	MSC, ABF1, MYOR	Musculin	MSC	9242	ENSG00000178860			Msc (MGI:1333884)
chr8	72000001	74600000	8q21.11		614230	DEL8q21.11, C8DELq21.11	Chromosome 8q21.11 deletion syndrome				contiguous gene deletion; minimal region (GRCh37, 8:77226464-77766239)	Chromosome 8q21.11 deletion syndrome, 614230 (4), Autosomal dominant, Isolated cases	
chr8	72000001	105100000	8q21-q22		258500	OPA6	Optic atrophy 6		777778		between D8S1702 and D8S1794	Optic atrophy 6, 258500 (2), Autosomal recessive	
chr8	72021250	72090010	8q21.11	8q21.11	604775	TRPA1, ANKTM1, FEPS1	Transient receptor potential cation channel, subfamily A, member 1	TRPA1	8989	ENSG00000104321	mutation identified in 1 FEPS1 family	?Episodic pain syndrome, familial, 1, 615040 (3), Autosomal dominant	Trpa1 (MGI:3522699)
chr8	72537225	72938349	Chr.8	8q21.11	607738	KCNB2, KV2.2	Potassium channel, voltage-gated, shab-related subfamily, member 2	KCNB2	9312	ENSG00000182674			Kcnb2 (MGI:99632)
chr8	73008864	73048123	8q13	8q21.11	600951	TERF1, TRF1	Telomeric repeat binding factor 1	TERF1	7013	ENSG00000147601			Terf1 (MGI:109634)
chr8	73064543	73093172	8q21.11	8q21.11	621005	SBSPON, RPESP	Somatomedin B and thrombospondin type 1 domain-containing protein	SBSPON	157869	ENSG00000164764			Sbspon (MGI:2684952)
chr8	73290242	73294466	8q	8q21.11	604166	RPL7	Ribosomal protein L7	RPL7	6129	ENSG00000147604	pseudogene on chr.5		Rpl7 (MGI:98073)
chr8	73294602	73325281	Chr.8	8q21.11	607599	RDH10	Retinol dehydrogenase 10	RDH10	157506	ENSG00000121039			Rdh10 (MGI:1924238)
chr8	73420369	73747480	8q13-q21.1	8q21.11	605920	STAU2	Staufen, Drosophila, homolog of, 2	STAU2	27067	ENSG00000040341			Stau2 (MGI:1352508)
chr8	73780096	73878862	8q13-q21.1	8q21.11	614277	UBE2W, UBC16	Ubiquitin-conjugating enzyme E2 W	UBE2W	55284	ENSG00000104343			Ube2w (MGI:1914049)
chr8	73945119	73972287	Chr.8	8q21.11	600788	TCEB1	Transcription elongation factor B, polypeptide 1, 15kD (elongin C)	ELOC	6921	ENSG00000154582			Eloc (MGI:1915173)
chr8	73976195	73982783	8q21.11	8q21.11	612418	TMEM70, MC5DN2	Transmembrane protein 70	TMEM70	54968	ENSG00000175606		Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3), Autosomal recessive	Tmem70 (MGI:1915068)
chr8	73991392	74099857	8q21.11	8q21.11	605243	LY96, MD2	Lymphocyte antigen 96	LY96	23643	ENSG00000154589			Ly96 (MGI:1341909)
chr8	74234700	74321540	8q21	8q21.11	605266	JPH1, JP1, CMT2K, CMYO25	Junctophilin 1	JPH1	56704	ENSG00000104369	mutation identified in 1 CMT2Km family	Congenital myopathy 25, 620964 (3), Autosomal recessive; {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of}, 607831 (3), Autosomal recessive, Autosomal dominant	Jph1 (MGI:1891495)
chr8	74350403	74488872	8q21.11	8q21.11	606598	GDAP1, CMT4A, CMT2K, CMTRIA	Ganglioside-induced differentiation-associated protein 1	GDAP1	54332	ENSG00000104381		Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, type 4A, 214400 (3), Autosomal recessive	Gdap1 (MGI:1338002)
chr8	74700001	83500000	8q21.13		612578	STQTL15	Stature quantitative trait locus 15		100270801		associated with rs2220456	{Stature QTL 15}, 612578 (2)	
chr8	74824534	74855029	8q21.13	8q21.13	607076	PI15, P25TI	Protease inhibitor 15	PI15	51050	ENSG00000137558			Pi15 (MGI:1934659)
chr8	75407649	75566834	8q21	8q21.13	605966	HNF4G	Hepatocyte nuclear factor 4-gamma	HNF4G	3174	ENSG00000164749			Hnf4g (MGI:1353604)
chr8	76681247	76867281	8q21.12	8q21.13	606940	ZFHX4, ZFH4	Zinc finger homeobox 4	ZFHX4	79776	ENSG00000091656		?Ptosis, congenital, 178300 (2), Autosomal dominant	Zfhx4 (MGI:2137668)
chr8	76980258	77001044	8q21.1	8q21.13	170993	PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3	Peroxisome biogenesis factor 2	PEX2	5828	ENSG00000164751		Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3), Autosomal recessive; Peroxisome biogenesis disorder 5B, 614867 (3), Autosomal recessive	Pex2 (MGI:107486)
chr8	78516340	78605267	Chr.8	8q21.13	606059	PKIA	Protein kinase, cAMP-dependent catalytic, inhibitor alpha	PKIA	5569	ENSG00000171033			Pkia (MGI:104747)
chr8	78675044	78805463	8q21.13	8q21.13	146660	IL7, IMD130	Interleukin-7	IL7	3574	ENSG00000104432		Immunodeficiency 130 with HPV-related verrucosis, 618309 (3), Autosomal recessive	Il7 (MGI:96561)
chr8	79611117	79666158	8q21.13	8q21.13	600621	STMN2, SCGN10, SCG10	Stathmin-like 2	STMN2	11075	ENSG00000104435			Stmn2 (MGI:98241)
chr8	79764010	79767767	8q21.13	8q21.13	602953	HEY1, HERP2, HESR1	HES-related family bHLH transcription factor with YRPW motif 1	HEY1	23462	ENSG00000164683			Hey1 (MGI:1341800)
chr8	79918717	80030259	8q21.1-q21.3	8q21.13	611990	MRPS28, MRPS35, COXPD47	Mitochondrial ribosomal protein S28	MRPS28	28957	ENSG00000147586	mutation identified in 1 COXPD47 patient	?Combined oxidative phosphorylation deficiency 47, 618958 (3), Autosomal recessive	Mrps28 (MGI:1913480)
chr8	80031082	80171564	8q21	8q21.13	604068	TPD52, D52	Tumor protein D52	TPD52	7163	ENSG00000076554			Tpd52 (MGI:107749)
chr8	80485593	80526265	8q21.13	8q21.13	618576	ZBTB10, RINZF	Zinc finger and BTB domain-containing protein 10	ZBTB10	65986	ENSG00000205189			Zbtb10 (MGI:2139883)
chr8	80967810	81112068	Chr.8	8q21.13	605767	PAG	Phosphoprotein associated with glycosphingolipid-enriched microdomains	PAG1	55824	ENSG00000076641			Pag1 (MGI:2443160)
chr8	81280536	81284775	8q21.13	8q21.13	605168	FABP5, PAFABP, EFABP	Fatty acid-binding protein 5	FABP5	2171	ENSG00000164687			Fabp5 (MGI:101790)
chr8	81440326	81447439	8q21.3-q22.1	8q21.13	170715	PMP2, CMT1G	Peripheral myelin protein-2	PMP2	5375	ENSG00000147588		Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3), Autosomal dominant	Pmp2 (MGI:102667)
chr8	81458253	81461579	8q21.13	8q21.13	620856	FABP9, PERF15	Fatty acid-binding protein 9	FABP9	646480	ENSG00000205186			Fabp9 (MGI:1194881)
chr8	81478419	81483233	8q21	8q21.13	600434	FABP4	Fatty acid-binding protein-4, adipocyte	FABP4	2167	ENSG00000170323			Fabp4 (MGI:88038)
chr8	81524981	81590139	8q21	8q21.13	618923	FABP12	Fatty acid-binding protein 12	FABP12	646486	ENSG00000197416			Fabp12 (MGI:1922747)
chr8	81656914	81686325	8q21.13-q21.3	8q21.13	602064	IMPA1, MRT59	Inositol(myo)-1(or 4)-monophosphatase-1	IMPA1	3612	ENSG00000133731		Intellectual developmental disorder, autosomal recessive 59, 617323 (3), Autosomal recessive	Impa1 (MGI:1933158)
chr8	81693631	81695058	8q21	8q21.13	618582	SLC10A5, P5	Solute carrier family 10 (sodium/bile acid cotransporter family), member A5	SLC10A5	347051	ENSG00000253598			Slc10a5 (MGI:2685251)
chr8	81732448	81759515	8q21.12	8q21.13	610899	CHMP4C, SNF7-3	Charged multivesicular body protein 4C	CHMP4C	92421	ENSG00000164695			Chmp4c (MGI:1913621)
chr8	81799583	81842185	8q21.13	8q21.13	614903	SNX16	Sorting nexin 16	SNX16	64089	ENSG00000104497			Snx16 (MGI:1921968)
chr8	84182787	84921844	8q21.2	8q21.2	614648	RALYL	RALY-like protein	RALYL	138046	ENSG00000184672			Ralyl (MGI:1924147)
chr8	85107238	85146080	8q21.2	8q21.2	617791	LRRCC1, CLERK, KIAA1764	Leucine-rich repeat- and coiled-coil domain-containing centrosomal protein 1	LRRCC1	85444	ENSG00000133739			Lrrcc1 (MGI:1918960)
chr8	85177154	85214518	8q21.2	8q21.2	600967	E2F5	E2F transcription factor 5	E2F5	1875	ENSG00000133740			E2f5 (MGI:105091)
chr8	85245458	85284073	8q21.2	8q21.2	611436	CA13	Carbonic anhydrase XIII	CA13	377677	ENSG00000185015			Car13 (MGI:1931322)
chr8	85327608	85378113	8q22	8q21.2	114800	CA1	Carbonic anhydrase I	CA1	759	ENSG00000133742			Car1 (MGI:88268)
chr8	85438859	85449040	8q22	8q21.2	114750	CA3	Carbonic anhydrase III	CA3	761	ENSG00000164879			Car3 (MGI:88270)
chr8	85464007	85481493	8q22	8q21.2	611492	CA2	Carbonic anhydrase II	CA2	760	ENSG00000104267	CA1, CA2 linked in monkey and mouse	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3), Autosomal recessive	Car2 (MGI:88269)
chr8	86047109	86069987	8q21.3	8q21.3	620394	PSKH2	Protein serine kinase H2	PSKH2	85481	ENSG00000147613			
chr8	86098910	86154225	8q21.3	8q21.3	618072	ATP6V0D2	ATPase, H+ transporting, V0 subunit D2	ATP6V0D2	245972	ENSG00000147614			Atp6v0d2 (MGI:1924415)
chr8	86214063	86230381	8q21.3	8q21.3	617256	SLC7A13, AGT1, XAT2	Solute carrier family 7, member 13	SLC7A13	157724	ENSG00000164893			Slc7a13 (MGI:1921337)
chr8	86342547	86468503	8q21	8q21.3	602307	WWP1, TIUL1	WW domain-containing protein 1	WWP1	11059	ENSG00000123124			Wwp1 (MGI:1861728)
chr8	86468266	86514357	8q21.3	8q21.3	611871	RMDN1 FAM82B, RMD1	Regulator of microtubule dynamics 1	RMDN1	51115	ENSG00000176623			Rmdn1 (MGI:1913552)
chr8	86514435	86561498	8q21.3	8q21.3	604207	CPNE3, CPN3	Copine III	CPNE3	8895	ENSG00000085719			Cpne3 (MGI:1917818)
chr8	86574179	86743634	8q21-q22	8q21.3	605080	CNGB3, ACHM3, ACHM1	Cyclic nucleotide-gated channel, beta-3	CNGB3	54714	ENSG00000170289		Achromatopsia 3, 262300 (3), Autosomal recessive	Cngb3 (MGI:1353562)
chr8	87870747	87874015	8q21.3	8q21.3	620421	DCAF4L2	DDB1- and CUL4-associated factor 4-like 2	DCAF4L2	138009	ENSG00000176566			Dcaf4 (MGI:1921078)
chr8	88032011	88327483	8q21	8q21.3	602262	MMP16	Matrix metalloproteinase 16 (membrane-inserted)	MMP16	4325	ENSG00000156103			Mmp16 (MGI:1276107)
chr8	89757816	89791064	8q21.3	8q21.3	603455	RIPK2, CARDIAK, RIP2, RICK	Receptor-interacting serine/threonine kinase 2	RIPK2	8767	ENSG00000104312			Ripk2 (MGI:1891456)
chr8	89901868	89927888	8q21.3	8q21.3	604598	OSGIN2, C8orf1	Oxidative stress-induced growth inhibitor family member 2	OSGIN2	734	ENSG00000164823			Osgin2 (MGI:2384798)
chr8	89933331	89984667	8q21	8q21.3	602667	NBN, NBS1	Nibrin	NBN	4683	ENSG00000104320		Leukemia, acute lymphoblastic, 613065 (3); Aplastic anemia, 609135 (3); Nijmegen breakage syndrome, 251260 (3), Autosomal recessive	Nbn (MGI:1351625)
chr8	90001477	90053633	8q21.3	8q21.3	222745	DECR1	2,4-dienoyl CoA reductase	DECR1	1666	ENSG00000104325			Decr1 (MGI:1914710)
chr8	90058608	90082879	8q21.3-q22.1	8q21.3	114050	CALB1	Calbindin 1, 28kD	CALB1	793	ENSG00000104327			Calb1 (MGI:88248)
chr8	90621995	90646083	8q21.3	8q21.3	620429	TMEM64	Transmembrane protein 64	TMEM64	169200	ENSG00000180694			Tmem64 (MGI:2140359)
chr8	90993802	91040859	8q21.2	8q21.3	609864	TMEM55A	Transmembrane protein 55A	PIP4P2	55529	ENSG00000155099			Pip4p2 (MGI:1919769)
chr8	91070344	91087093	8q21.3	8q21.3	612021	OTUD6B, DUBA5, IDDFSDA	OTU domain-containing protein 6B	OTUD6B	51633	ENSG00000155100		Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive	Otud6b (MGI:1919451)
chr8	91209496	91398155	8q21.3	8q21.3	608479	SLC26A7	Solute carrier family 26 (sulfate transporter), member 7	SLC26A7	115111	ENSG00000147606			Slc26a7 (MGI:2384791)
chr8	91954967	92103385	8q22	8q21.3	133435	RUNX1T1, CBFA2T1, AML1T1, ETO	unt-related transcription factor 1, translocated to, 1, cyclin D-related	RUNX1T1	862	ENSG00000079102	fused with AML1 in t(8;21)		Runx1t1 (MGI:104793)
chr8	92300001	105100000	8q22		619553	DFNB118	Deafness, autosomal recessive 118, with cochlear aplasia				deletion of 200kb downstream of GDF6	Deafness, autosomal recessive 118, with cochlear aplasia, 619553 (4), Autosomal recessive	
chr8	92300001	97900000	8q22.1		151200	DUP8q22.1, C8DUPq22.1	Chromosome 8q22.1 duplication syndrome (Leri pleonosteosis)				duplication of 0.9-1.2 Mb on 8q22.1	Leri pleonosteosis chromosome duplication syndrome, 151200 (4), Autosomal dominant	
chr8	92300001	105100000	8q22		145701	HTC1	Hypertrichosis universalis congenita, Ambras type		3341			?Hypertrichosis universalis congenita, Ambras type, 145701 (2), Autosomal dominant	
chr8	92300001	97900000	8q22.1		608156	NMLFS, DEL8q22.1, C8DELq22.1	Nablus mask-like facial syndrome (chromosome 8q22.1 deletion syndrome)					Nablus mask-like facial syndrome, 608156 (4), Autosomal dominant	
chr8	93700550	93731527	8q22.1	8q22.1	617273	CIBAR1, FAM92A, FAM92A1, PAPA9	CBY1 interacting BAR domain contain 1	CIBAR1	137392	ENSG00000188343	mutation identified in 1 PAPA9 family	?Polydactyly, postaxial, type A9, 618219 (3), Autosomal recessive	Cibar1 (MGI:1915349)
chr8	93754844	93832653	8q21.13-q22.1	8q22.1	609884	TMEM67, MKS3, JBTS6, NPHP11	Transmembrane protein 67 (meckelin)	TMEM67	91147	ENSG00000164953	mutation identified in 1 RHYNS patient	Nephronophthisis 11, 613550 (3), Autosomal recessive; {Bardet-Biedl syndrome 14, modifier of}, 615991 (3), Autosomal recessive; Joubert syndrome 6, 610688 (3), Autosomal recessive; Meckel syndrome 3, 607361 (3), Autosomal recessive; ?RHYNS syndrome, 602152 (3), Autosomal recessive; COACH syndrome 1, 216360 (3), Autosomal recessive	Tmem67 (MGI:1923928)
chr8	93916923	93926068	8q22.1	8q22.1	605993	PDP1, PPM2C, PDPC	Pyruvate dehydrogenase phosphatase catalytic subunit 1	PDP1	54704	ENSG00000164951		Pyruvate dehydrogenase phosphatase deficiency, 608782 (3), Autosomal recessive	Pdp1 (MGI:2685870)
chr8	94127162	94217278	8q22.1	8q22.1	603017	CDH17, CDH16, HPT1	Cadherin-17, liver-intestine	CDH17	1015	ENSG00000079112			Cdh17 (MGI:1095414)
chr8	94249253	94262319	8q13-q21	8q22.1	600164	GEM	GTP-binding protein overexpressed in skeletal muscle	GEM	2669	ENSG00000164949			Gem (MGI:99844)
chr8	94371960	94475115	8q21.3-q22	8q22.1	604289	RAD54B	RAD54 homolog B	RAD54B	25788	ENSG00000197275		Colon cancer, somatic, 114500 (3); Lymphoma, non-Hodgkin, somatic, 605027 (3)	Rad54b (MGI:3605986)
chr8	94427716	94436944	8q22.1	8q22.1	616306	FSBP	Fibrinogen silencer-binding protein	FSBP	100861412	ENSG00000265817			Fsbp (MGI:5301008)
chr8	94487689	94553469	8q22.1	8q22.1	616447	VIRMA, KIAA1429	VIR-like M6A methyltransferase-associated protein	VIRMA	25962	ENSG00000164944			Virma (MGI:1913435)
chr8	94641174	94707466	8q22.1	8q22.1	612959	ESRP1, RMB35A, DFNB109	Epithelial splicing regulatory protein 1	ESRP1	54845	ENSG00000104413	mutation identified in 1 DFNB109 family	?Deafness, autosomal recessive 109, 618013 (3), Autosomal recessive	Esrp1 (MGI:1917326)
chr8	94719900	94793836	8q22.1	8q22.1	613895	DPY19L4	DPY19-like 4	DPY19L4	286148	ENSG00000156162			Dpy19l4 (MGI:2685869)
chr8	94823287	94881746	8q22.1	8q22.1	611351	INTS8, INT8, NEDCHS	Integrator complex subunit 8	INTS8	55656	ENSG00000164941	mutation identified in 1 NEDCHS family	?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, 618572 (3), Autosomal recessive	Ints8 (MGI:1919906)
chr8	94880224	94896693	8q22.1	8q22.1	603775	CCNE2	Cyclin E2	CCNE2	9134	ENSG00000175305			Ccne2 (MGI:1329034)
chr8	94895799	95118496	8q22.1	8q22.1	612392	NDUFAF6, C8orf38, MC1DN17, FRTS5	NADH-ubiquinone oxidoreductase complex assembly factor 6	NDUFAF6	137682	ENSG00000156170		Mitochondrial complex I deficiency, nuclear type 17, 618239 (3), Autosomal recessive; Fanconi renotubular syndrome 5, 618913 (3), Autosomal recessive	Ndufaf6 (MGI:1924197)
chr8	94925972	94949378	8q22	8q22.1	606185	TP53DINP1, P53DINP1	Tumor protein p53 inducible nuclear protein 1	TP53INP1	94241	ENSG00000164938			Trp53inp1 (MGI:1926609)
chr8	95133785	95156685	8q22.1	8q22.1	615208	PLEKHF2, EAPF, PHAFIN2	Pleckstrin homology domain-containing protein, family F, member 2	PLEKHF2	79666	ENSG00000175895			Plekhf2 (MGI:1919051)
chr8	95244913	95269201	8q22.1	8q22.1	614477	CFAP418, C8orf37, CORD16, RP64, BBS21	Cilia- and flagella-associated protein 418	CFAP418	157657	ENSG00000156172		Retinitis pigmentosa 64, 614500 (3), Autosomal recessive; Cone-rod dystrophy 16, 614500 (3), Autosomal recessive; Bardet-Biedl syndrome 21, 617406 (3), Autosomal recessive	Cfap418 (MGI:1914407)
chr8	96142333	96160806	8q22.1	8q22.1	601147	GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4	Growth/differentiation factor 6	GDF6	392255	ENSG00000156466		Microphthalmia with coloboma 6, digenic, 613703 (3), Autosomal dominant; Microphthalmia, isolated 4, 613094 (3); Leber congenital amaurosis 17, 615360 (3), Autosomal recessive; Multiple synostoses syndrome 4, 617898 (3), Autosomal dominant; Klippel-Feil syndrome 1, autosomal dominant, 118100 (3), Autosomal dominant	Gdf6 (MGI:95689)
chr8	96222947	96235545	8q22	8q22.1	191330	UQCRB, UQBP, QPC, MC3DN3	Ubiquinol-cytochrome c reductase binding protein	UQCRB	7381	ENSG00000156467		Mitochondrial complex III deficiency, nuclear type 3, 615158 (3), Autosomal recessive	Uqcrb (MGI:1914780)
chr8	96239398	96261613	8q22.1	8q22.1	616930	MTERF3, MTERFD1	Transcription termination factor 3, mitochondrial	MTERF3	51001	ENSG00000156469			Mterf3 (MGI:1913660)
chr8	96261902	96336995	8q22	8q22.1	612792	PTDSS1, PSS1, KIAA0024, LMHD	Phosphatidylserine synthase 1	PTDSS1	9791	ENSG00000156471		Lenz-Majewski hyperostotic dwarfism, 151050 (3), Autosomal dominant	Ptdss1 (MGI:1276575)
chr8	96493813	96611790	8q22-q24	8q22.1	142460	SDC2, HSPG1	Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated; fibroglycan)	SDC2	6383	ENSG00000169439			Sdc2 (MGI:1349165)
chr8	96645242	97143501	8q22.2	8q22.1	618754	CPQ, PGCP	Carboxypeptidase Q	CPQ	10404	ENSG00000104324			Cpq (MGI:1889205)
chr8	97273488	97277928	8q22	8q22.1	614721	TSPYL5, KIAA1750	TSPY-like 5	TSPYL5	85453	ENSG00000180543			Tspyl5 (MGI:2442458)
chr8	97644184	97730260	8q22-q23	8q22.1	610323	MTDH, AEG1, LYRIC	Metadherin	MTDH	92140	ENSG00000147649			Mtdh (MGI:1914404)
chr8	97775788	97853013	8q22.1	8q22.1	613296	LAPTM4B	Lysosome-associated protein, transmembrane 4, beta	LAPTM4B	55353	ENSG00000104341	pseudogenes on 1q, 3q,3p, 4q, and 7q33-q35		Laptm4b (MGI:1890494)
chr8	97869064	98036724	8q22	8q22.1-q22.2	602108	MATN2	Matrilin 2	MATN2	4147	ENSG00000132561			Matn2 (MGI:109613)
chr8	98041721	98045545	8q22.2	8q22.2	180467	RPL30	Ribosomal protein L30	RPL30	6156	ENSG00000156482			Rpl30 (MGI:98037)
chr8	98064568	98093609	8q22.2	8q22.2	620895	ERICH5	Glutamate-rich protein 5	ERICH5	203111	ENSG00000177459			Erich5 (MGI:2447772)
chr8	98102344	98117171	8q22	8q22.2	602487	HRSP12, PSP, UK114	Heat-responsive protein 12	RIDA	10247	ENSG00000132541			Rida (MGI:1095401)
chr8	98117293	98159835	8q22	8q22.2	602486	POP1, ANXD2	POP1 homolog, ribonuclease P/MRP subunit	POP1	10940	ENSG00000104356		Anauxetic dysplasia 2, 617396 (3), Autosomal recessive	Pop1 (MGI:1914974)
chr8	98343975	98942610	8q22.2	8q22.2	605030	STK3, MST2, KRS1	Serine/threonine protein kinase 3	STK3	6788	ENSG00000104375			Stk3 (MGI:1928487)
chr8	98426958	98432853	8q22	8q22.2	602906	KCNS2	Potassium voltage-gated channel, delayed-rectifier, subfamily S, member-2	KCNS2	3788	ENSG00000156486			Kcns2 (MGI:1197011)
chr8	98944442	98952100	8q23	8q22.2	611297	OSR2	Odd-skipped-related 2	OSR2	116039	ENSG00000164920			Osr2 (MGI:1930813)
chr8	99013274	99877580	8q22-q23	8q22.2	607817	VPS13B, KIAA0532, COH1	Vacuolar protein sorting 12 homolog B	VPS13B	157680	ENSG00000132549		Cohen syndrome, 216550 (3), Autosomal recessive	Vps13b (MGI:1916380)
chr8	99877865	99893707	8q22-q23	8q22.2	124090	COX6C	Cytochrome c oxidase, subunit VIc	COX6C	1345	ENSG00000164919	pseudogene on 16p12		Cox6c,Cox6c2 (MGI:104614,MGI:3649160)
chr8	99960936	100106049	8q22.2	8q22.2	615650	RGS22	Regulator of G protein signaling 22	RGS22	26166	ENSG00000132554			Rgs22 (MGI:3613651)
chr8	100133351	100150569	8q22.3	8q22.2	609110	FBXO43, EMI2, ERP1, FBX43, SPGF64, OZEMA12	F-box only protein 43	FBXO43	286151	ENSG00000156509		Spermatogenic failure 64, 619696 (3), Autosomal recessive; Oocyte/zygote/embryo maturation arrest 12, 619697 (3), Autosomal recessive	Fbxo43 (MGI:1926053)
chr8	100150636	100154003	8p22	8q22.2	606033	POLR2K, RPB12	Polymerase II, RNA, subunit K	POLR2K	5440	ENSG00000147669			Polr2k (MGI:102725)
chr8	100158038	100241904	8q22	8q22.2	603395	SPAG1, CILD28	Sperm-associated antigen-1	SPAG1	6674	ENSG00000104450		Ciliary dyskinesia, primary, 28, 615505 (3), Autosomal recessive	Spag1 (MGI:1349387)
chr8	100257067	100336204	8q22.2	8q22.2	607119	RNF19A, DORFIN	RING finger protein 19A, RBR E3 ubiquitin protein ligase	RNF19A	25897	ENSG00000034677			Rnf19a (MGI:1353623)
chr8	100500001	105100000	8q22.3		149000	KTWS, KTS	Klippel-Trenaunay-Weber syndrome		791122		translocation with 14q13	Klippel-Trenaunay-Weber syndrome, 149000 (2), Isolated cases	
chr8	100500001	105100000	8q22.3		613318	MMD2	Miyoshi muscular dystrophy 2		100505381		max lod at D10S2325	Miyoshi muscular dystrophy 2, 613318 (2)	
chr8	100572874	100663585	8q22.3	8q22.3	619839	SNX31	Sorting nexin 31	SNX31	169166	ENSG00000174226			Snx31 (MGI:1913946)
chr8	100702916	100722088	8q22	8q22.3	604679	PABPC1, PAB1, PABP1, PABP	Polyadenylate-binding protein, cytoplasmic, 1	PABPC1	26986	ENSG00000070756			Pabpc1 (MGI:1349722)
chr8	100916523	100953382	8q22.3	8q22.3	601288	YWHAZ	Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	YWHAZ	7534	ENSG00000164924	pseudogene on 2p25		Ywhaz (MGI:109484)
chr8	101197052	101206222	8q22.3	8q22.3	619526	ZNF706, HSPC038	Zinc finger protein 706	ZNF706	51123	ENSG00000120963			Zfp706 (MGI:1915286)
chr8	101492439	101681200	8q22	8q22.3	608576	GRHL2, TFCP2L3, DFNA28, ECTDS, PPCD4	Grainyhead-like 2	GRHL2	79977	ENSG00000083307		Deafness, autosomal dominant 28, 608641 (3), Autosomal dominant; Ectodermal dysplasia/short stature syndrome, 616029 (3), Autosomal recessive; Corneal dystrophy, posterior polymorphous, 4, 618031 (3), Autosomal dominant	Grhl2 (MGI:2182543)
chr8	101686542	102124907	8q22.2	8q22.3	606722	NCALD	Neurocalcin, delta	NCALD	83988	ENSG00000104490			Ncald (MGI:1196326)
chr8	102204501	102238961	8q23.1	8q22.3	604712	RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B, RCDFRD	Ribonucleotide reductase regulatory TP53 inducible subunit M2B	RRM2B	50484	ENSG00000048392		Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3), Autosomal recessive; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, 268315 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3), Autosomal dominant	Rrm2b (MGI:2155865)
chr8	102252273	102412700	8q22.3	8q22.3	608413	UBR5, EDD1, HYD, KIAA0896	Ubiquitin protein ligase E3 component n-recognin 5	UBR5	51366	ENSG00000104517			Ubr5 (MGI:1918040)
chr8	102551589	102561018	8q22	8q22.3	182878	ODF1	Outer dense fiber of sperm tails 1	ODF1	4956	ENSG00000155087			Odf1 (MGI:97424)
chr8	102648784	102655725	8q22.2	8q22.3	601878	KLF10, TIEG	Kruppel-like factor 10	KLF10	7071	ENSG00000155090			Klf10 (MGI:1101353)
chr8	102826302	102864200	8q22.3	8q22.3	607909	AZIN1, OAZIN	Antizyme inhibitor 1	AZIN1	51582	ENSG00000155096			Azin1 (MGI:1859169)
chr8	103021083	103073051	8q22.3	8q22.3	603097	ATP6V1C1, ATP6C, ATP6D	ATPase, H+ transporting, V1 subunit C1	ATP6V1C1	528	ENSG00000155097			Atp6v1c1 (MGI:1913585)
chr8	103140725	103230305	8q22.3	8q22.3	606602	BAALC	Brain and acute leukemia gene, cytoplasmic	BAALC	79870	ENSG00000164929			Baalc (MGI:1928704)
chr8	103298494	103332866	8q22.3-q23.1	8q22.3	603409	FZD6, NDNC1	Frizzled class receptor 6	FZD6	8323	ENSG00000164930		Nail disorder, nonsyndromic congenital, 1, 161050 (3), Autosomal recessive	Fzd6 (MGI:108474)
chr8	103371538	103382989	8q22.3	8q22.3	610635	CTHRC1	Collagen triple-helix repeat-containing protein 1	CTHRC1	115908	ENSG00000164932		Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	Cthrc1 (MGI:1915838)
chr8	103398638	103415107	8q21.2	8q22.3	138480	SLC25A32, MFT, GLYB, RREI	Solute carrier family 25 (mitochondrial carrier, folate), member 32	SLC25A32	81034	ENSG00000164933	mutation identified in 1 RREI patient	?Exercise intolerance, riboflavin-responsive, 616839 (3), Autosomal recessive	Slc25a32 (MGI:1917156)
chr8	103415386	103443453	8q22.3	8q22.3	616196	DCAF13, WDSOF1	DDB1- and CUL4-associated factor 13	DCAF13	25879	ENSG00000164934			Dcaf13 (MGI:2684929)
chr8	103500610	104256094	8q22.3	8q22.3	606630	RIMS2, KIAA0751, RIM2, OBOE, CRSDS	Regulating synaptic membrane exocytosis-2	RIMS2	9699	ENSG00000176406		Cone-rod synaptic disorder syndrome, congenital nonprogressive, 618970 (3), Autosomal recessive	Rims2 (MGI:2152972)
chr8	104339796	104356689	8q22	8q22.3	605933	DCSTAMP, TM7SF4, FIND	Dendrocyte-expressed 7-transmembrane protein	DCSTAMP	81501	ENSG00000164935			Dcstamp (MGI:1923016)
chr8	104379431	104467055	8q22	8q22.3	613326	DPYS, DHP	Dihydropyrimidinase	DPYS	1807	ENSG00000147647		Dihydropyrimidinuria, 222748 (3), Autosomal recessive	Dpys (MGI:1928679)
chr8	104489236	104589258	8q22.3	8q22.3	618299	LRP12, MIG13A, ALS28	Low density lipoprotein receptor-related protein 12	LRP12	29967	ENSG00000147650		Oculopharyngodistal myopathy 1, 164310 (3), Autosomal dominant; Amyotrophic lateral sclerosis 28, 620452 (3), Autosomal dominant	Lrp12 (MGI:2443132)
chr8	105100001	116700000	8q23		612231	CRCS6	Colorectal cancer, susceptibility to, 6		100187710		associated with rs16892766	{Colorectal cancer, susceptibility to, 6}, 612231 (2)	
chr8	105100001	116700000	8q23		602429	GLC1D	Glaucoma 1, open angle, D		2724			Glaucoma 1D, primary open angle, 602429 (2)	
chr8	105100001	116700000	8q23		607053	HDLCQ2	High density lipoprotein cholesterol level QTL 2		353127			[High density lipoprotein cholesterol level QTL 2], 607053 (2)	
chr8	105100001	145138636	8q23-q24		140300	HT	Hashimoto thyroiditis		140805		?chr.12	Hashimoto thyroiditis, 140300 (2), Autosomal dominant	
chr8	105100001	116700000	8q23		612729	LBMQTL1	Lean body mass quantitative trait locus 1		100294719		associated with rs16892496 and rs7832552	[Lean body mass QTL 1], 612729 (2)	
chr8	105100001	116700000	8q23		608796	MYMY3	Moyamoya disease 3		493818		max lod at D8S546	Moyamoya disease 3, 608796 (2)	
chr8	105318438	105804539	8q23	8q23.1	603693	ZFPM2, FOG2, DIH3, SRXY9	Zinc finger protein, multitype 2 (friend of GATA2)	ZFPM2	23414	ENSG00000169946		Diaphragmatic hernia 3, 610187 (3); 46XY sex reversal 9, 616067 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant	Zfpm2 (MGI:1334444)
chr8	106270178	106752694	8q23	8q23.1	605609	OXR1, CHEGDD	Oxidation resistance 1	OXR1	55074	ENSG00000164830		Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, 213000 (3), Autosomal recessive	Oxr1 (MGI:2179326)
chr8	106759483	106770244	8q23	8q23.1	609747	ABRA, STARS	Actin-binding RHO-activating protein	ABRA	137735	ENSG00000174429			Abra (MGI:2444891)
chr8	107249482	107497918	8q22	8q23.1	601667	ANGPT1, ANG1, HAE5	Angiopoietin-1	ANGPT1	284	ENSG00000154188	mutation identified in 1 HAE5 family	?Angioedema, hereditary, 5, 619361 (3), Autosomal dominant	Angpt1 (MGI:108448)
chr8	107899316	108083620	8q23.1	8q23.1	610575	RSPO2, CRISTIN2, TETAMS2, HHRRD	R-spondin member 2	RSPO2	340419	ENSG00000147655	mutation identified in 1 HHRRD family	?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3), Autosomal recessive; Tetraamelia syndrome 2, 618021 (3), Autosomal recessive	Rspo2 (MGI:1922667)
chr8	108201216	108248717	8q22-q23	8q23.1	602210	EIF3E, EIF3S6, INT6	Eukaryotic translation initiation factor 3, subunit E (oncogene INT6)	EIF3E	3646	ENSG00000104408			Eif3e (MGI:99257)
chr8	108443624	108489196	8q23.1	8q23.1	607722	EMC2, KIAA0103	ER membrane protein complex subunit 2	EMC2	9694	ENSG00000104412			Emc2 (MGI:1913986)
chr8	108606850	108787594	8q23.2	8q23.1	613935	TMEM74	Transmembrane protein 74	TMEM74	157753	ENSG00000164841			Tmem74 (MGI:2443417)
chr8	109086585	109121565	8q23	8q23.1	188545	TRHR, CHNG7	Thyrotropin-releasing hormone receptor	TRHR	7201	ENSG00000174417		Hypothyroidism, congenital, nongoitrous, 7, 618573 (3), Autosomal recessive	Trhr (MGI:98824)
chr8	109240919	109334087	8q23	8q23.1	606109	CML66	Immunogenic tumor antigen CML66	NUDCD1	84955	ENSG00000120526			Nudcd1 (MGI:1914679)
chr8	109334347	109345954	8q23.1	8q23.1	619015	ENY2, SUS1	ENY2 transcription and export complex 2 subunit	ENY2	56943	ENSG00000120533			Eny2 (MGI:1919286)
chr8	109362461	109537207	8q23	8q23.1-q23.2	607843	PKHD1L1, DFNB124	PKHD1-like 1	PKHD1L1	93035	ENSG00000205038		Deafness, autosomal recessive 124, 620794 (3), Autosomal recessive	Pkhd1l1 (MGI:2183153)
chr8	109539702	109565996	8q23	8q23.2	605772	EBAG9, RCAS1, EB9	Estrogen receptor-binding site-associated antigen 9	EBAG9	9166	ENSG00000147654			Ebag9 (MGI:1859920)
chr8	109573978	109691600	8q23	8q23.2	611568	GOLSYN, SYBU, KIAA1472	Golgi-localized syntaphilin-related protein	SYBU	55638	ENSG00000147642			Sybu (MGI:2442392)
chr8	109963636	109975771	8q22.3-q24.1	8q23.2	608164	KCNV1, KV8.1	Potassium channel, voltage-gated, subfamily V, member 1	KCNV1	27012	ENSG00000164794			Kcnv1 (MGI:1914748)
chr8	112222928	113436939	8q23.3	8q23.3	608399	CSMD3, KIAA1894	Cub and Sushi multiple domains 3	CSMD3	114788	ENSG00000164796			Csmd3 (MGI:2386403)
chr8	115408496	115668975	8q24.12	8q23.3	604386	TRPS1	Zinc finger transcription factor TRPS1	TRPS1	7227	ENSG00000104447		Trichorhinophalangeal syndrome, type III, 190351 (3), Autosomal dominant; Trichorhinophalangeal syndrome, type I, 190350 (3), Autosomal dominant	Trps1 (MGI:1927616)
chr8	116642130	116766374	8q24.11	8q23.3-q24.11	603912	EIF3H, EIF3S3	Eukaryotic translation initiation factor 3, subunit H	EIF3H	8667	ENSG00000147677			Eif3h (MGI:1915385)
chr8	116700001	145138636	8q24		612113	BMND10	Bone mineral density quantitative trait locus 10		100188883		associated with rs6469804 and rs6993813	[Bone mineral density QTL 10], 612113 (2)	
chr8	116700001	145138636	8q24		610649	BSZQTL3	Bone size quantitative trait locus 3		100188815			[Bone size quantitative trait locus 3], 610649 (2)	
chr8	116700001	145138636	8q24		611469	CRCS2	Colorectal cancer, susceptibility to, 2		100188841		associated with rs7014346	{Colorectal cancer, susceptibility to, 2}, 611469 (2)	
chr8	116700001	145138636	8q24		600131	ECA1	Epilepsy, childhood absence, 1		50966			Epilepsy, childhood absence, 1, 600131 (2), Autosomal dominant	
chr8	116700001	145138636	8q24		600669	EIG1	Epilepsy, idiopathic generalized, susceptibility to 1		1957		?same as EBN2	{Epilepsy, idiopathic generalized, susceptibility to, 1}, 600669 (2), Autosomal dominant	
chr8	116700001	145138636	8q24		611100	HPC10	Prostate cancer, hereditary, 10		100188834		strongest assoc. with rs1447295	{Prostate cancer, hereditary, 10}, 611100 (2)	
chr8	116700001	145138636	8q24		167959	HPV18I1	Human papillomavirus type 18 integration site-1		3260				
chr8	116700001	126300000	8q24.1		275220	THM	Tibial hemimelia		117193			?Tibial hemimelia, 275220 (2), Autosomal recessive	
chr8	116700001	126300000	8q24.11-q24.13		150230	TRPS2, LGCR, LGS	Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome)				contiguous gene syndrome involving TRPS1 and EXT1	Trichorhinophalangeal syndrome, type II, 150230 (4), Autosomal dominant	
chr8	116845934	116874776	8q24	8q24.11	606462	RAD21, SCC1, NXP1, KIAA0078, CDLS4, MGS	RAD21 cohesin complex component	RAD21	5885	ENSG00000164754	mutation identified in 1 MGS family	Cornelia de Lange syndrome 4, 614701 (3), Autosomal dominant; ?Mungan syndrome, 611376 (3), Autosomal recessive	Rad21 (MGI:108016)
chr8	116938207	116944487	8q24.11	8q24.11	621042	AARD	Alanine- and arginine-rich domain-containing protein	AARD	441376	ENSG00000205002			Aard (MGI:2181621)
chr8	116950217	117176714	8q24.11	8q24.11	611145	SLC30A8, ZNT8	Solute carrier family 30 (zinc transporter), member 8	SLC30A8	169026	ENSG00000164756		{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant	Slc30a8 (MGI:2442682)
chr8	117520713	117540262	8q24.11	8q24.11	610237	MED30, TRAP25, THRAP6	Mediator complex subunit 30	MED30	90390	ENSG00000164758			Med30 (MGI:1917040)
chr8	117794490	118111826	8q24.11-q24.13	8q24.11	608177	EXT1	Exostosin 1	EXT1	2131	ENSG00000182197	distal to TRPS1	Exostoses, multiple, type 1, 133700 (3), Autosomal dominant; Chondrosarcoma, 215300 (3), Somatic mutation	Ext1 (MGI:894663)
chr8	118131825	118621963	8q24.1	8q24.11-q24.12	618073	SAMD12	Sterile alpha motif domain containing 12	SAMD12	401474	ENSG00000177570		Epilepsy, familial adult myoclonic, 1, 601068 (3), Autosomal dominant	Samd12 (MGI:2444518)
chr8	118923557	118951885	8q24	8q24.12	602643	TNFRSF11B, OPG, OCIF, PDB5	Tumor necrosis factor receptor superfamily, member 11B (osteoprotegerin)	TNFRSF11B	4982	ENSG00000164761		Paget disease of bone 5, juvenile-onset, 239000 (3), Autosomal recessive	Tnfrsf11b (MGI:109587)
chr8	118952263	119108455	8q23-q24.1	8q24.12	607620	COLEC10, CLL1, 3MC3	Collectin 10	COLEC10	10584	ENSG00000184374		3MC syndrome 3, 248340 (3), Autosomal recessive	Colec10 (MGI:3606482)
chr8	119208363	119245673	8q24.12	8q24.12	609684	MAL2	MAL proteolipid protein 2	MAL2	114569	ENSG00000147676			Mal2 (MGI:2146021)
chr8	119416446	119424434	8q24.1	8q24.12	164958	CCN3, NOV	Cellular communication network factor 3	CCN3	4856	ENSG00000136999	proximal to MYC		Ccn3 (MGI:109185)
chr8	119557086	119673390	8q24.1	8q24.12	601060	ENPP2, PDNP2	Ectonucleotide pyrophosphatase/phosphodiesterase 2	ENPP2	5168	ENSG00000136960			Enpp2 (MGI:1321390)
chr8	119730774	119832841	8q24.12	8q24.12	604912	TAF2, TAF2B, TAFII150, CIF150, MRT40	TAF2 RAN polymerase II, TATA box-binding protein-associated factor, 150kD	TAF2	6873	ENSG00000064313		Intellectual developmental disorder, autosomal recessive 40, 615599 (3), Autosomal recessive	Taf2 (MGI:2443028)
chr8	119833976	119855894	8q24.12	8q24.12	613203	DSCC1, DCC1	DNA replication and sister chromatid cohesion 1	DSCC1	79075	ENSG00000136982			Dscc1 (MGI:1919357)
chr8	119873722	120050918	8q24.12	8q24.12	612974	DEPDC6, DEPTOR	DEP domain-containing protein 6	DEPTOR	64798	ENSG00000155792			Deptor (MGI:2146322)
chr8	120124454	120373573	8q23	8q24.12	120324	COL14A1, UND	Collagen, type XIV, alpha-1 (undulin)	COL14A1	7373	ENSG00000187955			Col14a1 (MGI:1341272)
chr8	120395437	120445150	8q24.12	8q24.12	610200	MRPL13, RPML13, L13A	Mitochondrial ribosomal protein L13	MRPL13	28998	ENSG00000172172			Mrpl13 (MGI:2137218)
chr8	120445419	120523636	8q24.1-q24.3	8q24.12	605927	MDM2BP, MTBP	MDM2-binding protein	MTBP	27085	ENSG00000172167			Mtbp (MGI:2146005)
chr8	120535756	120812046	8q23-q24	8q24.12	600026	SNT2B1, A1B, SNTB1	Syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic basic component 1)	SNTB1	6641	ENSG00000172164			Sntb1 (MGI:101781)
chr8	121500001	135400000	8q24.13-q24.22		612448	ARHI1	Age-related hearing impairment 1		100233147		between rs3765212 and rs4601326	{Age-related hearing impairment 1}, 612448 (2)	
chr8	121500001	130400000	8q24.13-q24.21		614936	PPKP1B	Keratoderma, palmoplantar, punctate type IB		101154752		between D8S1804 and D8S1720	Keratoderma, palmoplantar, punctate type IB, 614936 (2), Autosomal dominant	
chr8	121612116	121641440	8q24.12	8q24.13	601636	HAS2	Hyaluronan synthase-2	HAS2	3037	ENSG00000170961			Has2 (MGI:107821)
chr8	121639346	121645325	8q24.13	8q24.13	614353	HAS2AS1, HASNT	HAS2 antisense RNA 1	HAS2-AS1	594842	ENSG00000248690			
chr8	122780379	122974510	8q24.13	8q24.13	609185	ZHX2, AFR1, KIAA0854	Zinc finger and homeodomain protein 2	ZHX2	22882	ENSG00000178764			Zhx2 (MGI:2683087)
chr8	123013170	123042302	8q24.13	8q24.13	608813	DERL1, DER1	DER1-like domain family, member 1	DERL1	79139	ENSG00000136986			Derl1 (MGI:1915069)
chr8	123179047	123210079	8q24	8q24.13	621022	FAM83A	Family with sequence similarity 83, member A	FAM83A	84985	ENSG00000147689			Fam83a (MGI:2447773)
chr8	123248456	123275541	8q	8q24.13	604764	ZHX1	Zinc finger and homeodomain protein 1	ZHX1	11244	ENSG00000165156			Zhx1 (MGI:109271)
chr8	123319850	123416350	8q24.13	8q24.13	611941	ATAD2, ANCCA	ATPase family, AAA domain-containing, member 2	ATAD2	29028	ENSG00000156802			Atad2 (MGI:1917722)
chr8	123416725	123475696	8q24.13	8q24.13	620846	NTAQ1, C8orf32, WDYHV1	N-terminal glutamine amidase 1	NTAQ1	55093	ENSG00000156795			Ntaq1 (MGI:1924023)
chr8	123497889	123541206	8q24.13	8q24.13	606604	FBXO32, MAFBX, FLJ32424, ATROGIN1	F-box only protein 32	FBXO32	114907	ENSG00000156804			Fbxo32 (MGI:1914981)
chr8	123680794	123737393	8q24.1-q24.2	8q24.13	602573	ANX13, ISA	Annexin XIII	ANXA13	312	ENSG00000104537			Anxa13 (MGI:1917037)
chr8	123851987	124120061	8q24.13	8q24.13	620884	FER1L6	FER1-like family, member 6	FER1L6	654463	ENSG00000214814			Fer1l6 (MGI:3645398)
chr8	124306189	124372701	8q24.13	8q24.13	616609	TMEM65	Transmembrane protein 65	TMEM65	157378	ENSG00000164983			Tmem65 (MGI:1922118)
chr8	124450820	124453026	8q24.13	8q24.13	611244	TRMT12, TRM12	tRNA methyltransferase 12 homolog	TRMT12	55039	ENSG00000183665			Trmt12 (MGI:1915510)
chr8	124474880	124488618	8q24.1	8q24.13	603046	RNF139, TRC8, RCA1	RING finger protein 139	RNF139	11236	ENSG00000170881		Renal cell carcinoma, 144700 (3)	Rnf139 (MGI:1923091)
chr8	124488494	124539088	8q24.13	8q24.13	619364	TATDN1	TatD DNase domain-containing protein 1	TATDN1	83940	ENSG00000147687			Tatdn1 (MGI:1916944)
chr8	124539123	124549979	8q13.3	8q24.13	601445	NDUFB9, UQOR22, MC1DN24	NADH-ubiquinone oxidoreductase subunit B9	NDUFB9	4715	ENSG00000147684	mutation identified in 1 MC1DN24 family	?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3), Autosomal recessive	Ndufb9 (MGI:1913468)
chr8	124550784	124728473	8q24.1	8q24.13	608486	MTSS1, MIM, KIAA0429	MTSS I-BAR domain containing 1 protein	MTSS1	9788	ENSG00000170873			Mtss1 (MGI:2384818)
chr8	124998505	125022283	8q24.1	8q24.13	602019	SQLE	Squalene epoxidase	SQLE	6713	ENSG00000104549			Sqle (MGI:109296)
chr8	125024260	125091792	8q24.13	8q24.13	610657	WASHC5, KIAA0196, SPG8, RTSC1	WASH complex, subunit 5	WASHC5	9897	ENSG00000164961		Ritscher-Schinzel syndrome 1, 220210 (3), Autosomal recessive; Spastic paraplegia 8, autosomal dominant, 603563 (3), Autosomal dominant	Washc5 (MGI:2146110)
chr8	125091860	125367120	8q24.13	8q24.13	617246	NSMCE2, NSE2, MMS21	NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase	NSMCE2	286053	ENSG00000156831		Seckel syndrome 10, 617253 (3), Autosomal recessive	Nsmce2 (MGI:1915751)
chr8	125430358	125438403	8q24.13	8q24.13	609461	TRIB1, TRB1, SKIP1, C8FW	Tribbles pseudokinase 1	TRIB1	10221	ENSG00000173334			Trib1 (MGI:2443397)
chr8	126552443	126558478	8q24.21	8q24.21	609483	LRATD2, FAM84B, BCMP101	LRAT domain containing 2 gene	LRATD2	157638	ENSG00000168672			Lratd2 (MGI:3026924)
chr8	127013154	127021014	8q24	8q24.21	616043	PCAT1	Prostate cancer-associated transcript 1, noncoding	PCAT1	100750225	ENSG00000253438			
chr8	127072694	127082221	8q24.21	8q24.21	617678	PCAT2, PCA2, CARLO4	Prostate cancer-associated transcript 2, noncoding	PCAT2	103164619	ENSG00000254166			
chr8	127079874	127092595	8q24	8q24.21	615452	PRNCR1, PCAT8	Prostate cancer-associated noncoding RNA 1	PRNCR1	101867536	ENSG00000282961			
chr8	127187785	127197627	8q24.21	8q24.21	617703	CASC19, LINC01245, CARLO6	Cancer susceptibility candidate 19, noncoding	CASC19	103021165				
chr8	127207382	127219268	8q24.21	8q24.21	617705	CCAT1, CARLO5	Colon cancer-associated transcript 1, noncoding	CCAT1	100507056				
chr8	127244637	127392631	8q24.21	8q24.21	617702	CASC21, LINC01244, CARLO2	Cancer susceptibility candidate 21, noncoding	CASC21	103021164				
chr8	127289676	127482139	8q24.21	8q24.21	617701	CASC8, LINC00860, CARLO1	Cancer susceptibility candidate 8, noncoding	CASC8	727677	ENSG00000246228			
chr8	127400399	127402150	8q24.21	8q24.21	619403	CCAT2	Colon cancer-associated transcript 2, noncoding	CCAT2	101805488	ENSG00000280997			
chr8	127413447	127417224	8q24.21	8q24.21	615739	POU5F1B, POU5F1P1, OCT4PG1	POU domain, class 5, transcription factor 1B	POU5F1B	5462	ENSG00000212993			Pou5f1 (MGI:101893)
chr8	127700608	127733967	8q24.21	8q24.21	617704	CASC11, LINC00990, CARLO7	Cancer susceptibility candidate 11, noncoding	CASC11	100270680	ENSG00000249375			
chr8	127735434	127742951	8q24.12-q24.13	8q24.21	190080	MYC	MYC protooncogene, bHLH transcription factor	MYC	4609	ENSG00000136997	cen-5'-3'-ter	Burkitt lymphoma, somatic, 113970 (3)	Bmyc,Myc (MGI:88184,MGI:97250)
chr8	127794524	128101256	8q24	8q24.21	165140	PVT1	Pvt1 oncogene (MYC activator)	PVT1	5820	ENSG00000249859			Pvt1 (MGI:97824)
chr8	129351694	129680239	8q24.21	8q24.21	613040	CCDC26, RAM, GLM7	CCDC26 long non-coding RNA	CCDC26	137196	ENSG00000229140		{Glioma susceptibility 7}, 613032 (3)	
chr8	129705435	129786624	8q24.1-q24.2	8q24.21	608384	GSDMC, MLZE	Gasdermin C	GSDMC	56169	ENSG00000147697			Gsdmc,Gsdmc2,Gsdmc3,Gsdmc4 (MGI:1921798,MGI:1933176,MGI:2146102,MGI:3580656)
chr8	129839593	130017129	8q24	8q24.21	617978	FAM149B	Family with sequence similarity 49, member B	CYRIB	51571	ENSG00000153310			Cyrib (MGI:1923520)
chr8	130052104	130443674	8q24.1-q24.2	8q24.21-q24.22	605953	ASAP1, DDEF1	Arf GTPase-activating protein with SH3 domain, ankyrin repeat, and PH domain 1	ASAP1	50807	ENSG00000153317			Asap1 (MGI:1342335)
chr8	130780301	131040909	8q24.2	8q24.22	103070	ADCY8, ADCY3	Adenylyl cyclase-8, brain	ADCY8	114	ENSG00000155897			Adcy8 (MGI:1341110)
chr8	131904093	132013642	8q24.2	8q24.22	611798	EFR3A, KIAA0143	EFR3 homolog A	EFR3A	23167	ENSG00000132294			Efr3a (MGI:1923990)
chr8	132024216	132059382	8q24	8q24.22	601658	OC90, PLA2L	Otoconin 90 (phospholipase A2-like)	OC90	729330	ENSG00000253117	PLA2L = fusion between HHLA1 and OC90		Oc90 (MGI:1313269)
chr8	132061480	132111157	8q24	8q24.22	604109	HHLA1	Human endogenous retrovirus-H long terminal repeat-associating 1	HHLA1	10086	ENSG00000132297			Hhla1 (MGI:3615329)
chr8	132120861	132481095	8q24	8q24.22	602232	KCNQ3, EBN2, BFNC2	Potassium voltage-gated channel, KQT-like subfamily, member 3	KCNQ3	3786	ENSG00000184156		Seizures, benign neonatal, 2, 121201 (3), Autosomal dominant	Kcnq3 (MGI:1336181)
chr8	132570416	132702913	8q24.22	8q24.22	614930	DNAAF11, LRRC6, LRTP, CILD19	Dynein, axonemal, assembly factor 11	DNAAF11	23639	ENSG00000129295		Ciliary dyskinesia, primary, 19, 614935 (3), Autosomal recessive	Dnaaf11 (MGI:1859553)
chr8	132705839	132775999	8q24.22	8q24.22	620287	TMEM71	Transmembrane protein 71	TMEM71	137835	ENSG00000165071			Tmem71 (MGI:2146049)
chr8	132775388	132848807	8q24.22	8q24.22	620050	PHF20L1	PHD finger protein 20-like 1	PHF20L1	51105	ENSG00000129292			Phf20l1 (MGI:2444412)
chr8	132866958	133134899	8q24.2-q24.3	8q24.22	188450	TG, AITD3, TDH3	Thyroglobulin	TG	7038	ENSG00000042832	distal to MYC	{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3); Thyroid dyshormonogenesis 3, 274700 (3), Autosomal recessive	Tg (MGI:98733)
chr8	133036728	133102602	8q24.2-q24.3	8q24.22	601099	SLA	Src-like-adaptor	SLA	6503	ENSG00000155926	in intron of TG		Sla (MGI:104295)
chr8	133054959	133057767	8q24	8q24.22	617440	PTCSC1, NCRNA00197	Papillary thyroid carcinoma susceptibility candidate 1 gene	PTCSC1	100302522	ENSG00000287736			
chr8	133191039	133231690	8q24.1-q24.3	8q24.22	603398	CCN4, WISP1	Cellular communication netowrk factor 4	CCN4	8840	ENSG00000104415			Ccn4 (MGI:1197008)
chr8	133237175	133297252	8q24.3	8q24.22	605262	NDRG1, HMSNL, CMT4D	N-myc downstream-regulated gene 1	NDRG1	10397	ENSG00000104419		Charcot-Marie-Tooth disease, type 4D, 601455 (3), Autosomal recessive	Ndrg1 (MGI:1341799)
chr8	133454848	133571887	8q24.22	8q24.22	607187	ST3GAL1, SIAT4A, ST3O	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	ST3GAL1	6482	ENSG00000008513			St3gal1 (MGI:98304)
chr8	134477788	134832339	8q23-q24	8q24.22	610931	ZFAT1, ZNF406, AITD3	Zinc finger gene in autoimmune thyroid disease 1	ZFAT	57623	ENSG00000066827		{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)	Zfat (MGI:2681865)
chr8	134800520	134800607	8q24.22	8q24.22	619018	MIR30B	Micro RNA 30B	MIR30B	407030	ENSG00000207582			Mir30b (MGI:2676908)
chr8	134804876	134804945	8q24.22	8q24.22	619019	MIR30D	Micro RNA 30D	MIR30D	407033	ENSG00000199153			Mir30d (MGI:2676910)
chr8	135457456	135656516	8q24.2	8q24.23	610421	KHDRBS3, TSTAR, SALP, SLM2, ETOILE	KH domain-containing, RNA-binding, signal transduction-associated protein 3	KHDRBS3	10656	ENSG00000131773			Khdrbs3 (MGI:1313312)
chr8	138588235	138914041	8q24.2	8q24.23-q24.3	610026	COL22A1	Collagen, type XXII, alpha-1 polypeptide	COL22A1	169044	ENSG00000169436			Col22a1 (MGI:1916950)
chr8	138900001	145138636	8q24.3		612858	OFC12	Orofacial cleft 12		100302515		associated with rs987525	Orofacial cleft 12, 612858 (2), Autosomal dominant	
chr8	139600838	139703123	8q24.1-q24.3	8q24.3	605874	KCNK9, TASK32, BIBARS	Potassium channel, subfamily K, member 9	KCNK9	51305	ENSG00000169427		Birk-Barel syndrome, 612292 (3)	Kcnk9 (MGI:3521816)
chr8	139727725	140458579	8q24.3	8q24.3	611966	TRAPPC9, NIBP, KIAA1882, MRT13	Trafficking protein particle complex 9	TRAPPC9	83696	ENSG00000167632		Intellectual developmental disorder, autosomal recessive 13, 613192 (3), Autosomal recessive	Trappc9 (MGI:1923760)
chr8	139931420	139933944	8q24.3	8q24.3	616992	C8orf17, MOST1	Chromosome 8 open reading frame 17	C8orf17	100507249	ENSG00000250733			
chr8	140511322	140517154	8q11-q12	8q24.3	607268	CHARC1, CHARC15, YCL1	Chromatin accessibility complex, subunit 1	CHRAC1	54108	ENSG00000104472			Chrac1 (MGI:2135796)
chr8	140520156	140642313	8q24	8q24.3	606229	AGO2, EIF2C2, LESKRES	Argonaute RISC component 2	AGO2	27161	ENSG00000123908		Lessel-Kreienkamp syndrome, 619149 (3), Autosomal dominant	Ago2 (MGI:2446632)
chr8	140657900	141002079	8q24-qter	8q24.3	600758	PTK2, FADK	PTK2 protein tyrosine kinase	PTK2	5747	ENSG00000169398			Ptk2 (MGI:95481)
chr8	140732564	140732653	8q24.3	8q24.3	620127	MIR151A	Micro RNA 151A	MIR151A	442893	ENSG00000254324			Mir151 (MGI:2676836)
chr8	141128589	141195804	8q24.3	8q24.3	617503	DENND3, KIAA0870	DENN domain-containing protein 3	DENND3	22898	ENSG00000105339			Dennd3 (MGI:2146009)
chr8	141207174	141308288	8q24.3	8q24.3	619581	SLC45A4, KIAA1126	Solute carrier family 45, member 4	SLC45A4	57210	ENSG00000022567			Slc45a4 (MGI:2146236)
chr8	141356470	141367286	8q24.2-q24.3	8q24.3	601908	GPR20	G protein-coupled receptor-20	GPR20	2843	ENSG00000204882			Gpr20 (MGI:2441803)
chr8	141392021	141432454	8q24.3	8q24.3	606449	PTP4A3, PRL3	Protein-tyrosine phosphatase, type 4A, 3	PTP4A3	11156	ENSG00000184489			Ptp4a3 (MGI:1277098)
chr8	142212080	142407029	8q24.3	8q24.3	620986	TSNARE1	T-snare domain-containing protein 1	TSNARE1	203062	ENSG00000171045			
chr8	142449649	142545007	8q24	8q24.3	602682	ADGRB1, BAI1, GDAIF	Adhesion G protein-coupled receptor B1	ADGRB1	575	ENSG00000181790			Adgrb1 (MGI:1933736)
chr8	142611049	142614479	8q24	8q24.3	612461	ARC, KIAA0278	Activity-regulated cytoskeleton-associated protein	ARC	23237	ENSG00000198576			Arc (MGI:88067)
chr8	142643682	142669967	8q24	8q24.3	603210	JRK, JH8	JRK helix-turn-helix protein	JRK	8629	ENSG00000234616			Jrk (MGI:106214)
chr8	142670297	142682725	8q24.2	8q24.3	602470	PSCA	Prostate stem cell antigen	PSCA	8000	ENSG00000167653			Psca (MGI:1919623)
chr8	142700111	142705127	8q24.3	8q24.3	615093	LY6K	Lymphocyte antigen 6 complex, locus K	LY6K	54742	ENSG00000160886			Ly6k (MGI:1923736)
chr8	142740949	142742406	8qter	8q24.3	606119	SLURP1, MDM	Secreted LY6/uPAR-related protein 1	SLURP1	57152	ENSG00000126233		Meleda disease, 248300 (3), Autosomal recessive	Slurp1 (MGI:1930923)
chr8	142771197	142777872	Chr.8	8q24.3	606110	LYNX1	Lynx1, mouse, homolog of	LYNX1	66004	ENSG00000180155			Lynx1 (MGI:1345180)
chr8	142784882	142786539	8q24-qter	8q24.3	606204	LY6D, E48	Lymphocyte antigen 6 complex, locus D	LY6D	8581	ENSG00000167656	?pseudogene ono 15q22		Ly6d (MGI:96881)
chr8	142834801	142846851	8q24.3	8q24.3	602370	GML	Glycosylphosphatidylinositol-anchored molecule-like protein	GML	2765	ENSG00000104499			Gml,Gml2 (MGI:1341831,MGI:3644767)
chr8	142872357	142879825	8q21	8q24.3	610613	CYP11B1, P450C11, FHI	Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase; corticosteroid methyl-oxidase II (CMO II))	CYP11B1	1584	ENSG00000160882	chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like	Aldosteronism, glucocorticoid-remediable, 103900 (3), Autosomal dominant; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3), Autosomal recessive	Cyp11b1,Cyp11b2 (MGI:88583,MGI:88584)
chr8	142910559	142917843	8q21	8q24.3	124080	CYP11B2	Cytochrome P450, subfamily XIB, polypeptide 2	CYP11B2	1585	ENSG00000179142		Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3), Autosomal recessive; Aldosterone to renin ratio raised (3); {Low renin hypertension, susceptibility to} (3); Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3), Autosomal recessive	Cyp11b1,Cyp11b2 (MGI:88583,MGI:88584)
chr8	143018529	143022409	8q24.3	8q24.3	601384	LY6E, RIGE, SCA2	Lymphocyte antigen 6 complex, locus E (retinoic acid induced gene E)	LY6E	4061	ENSG00000160932			Ly6e (MGI:106651)
chr8	143157916	143160654	8q24.3	8q24.3	603625	LY6H	Lymphocyte antigen 6 complex, locus H	LY6H	4062	ENSG00000176956			Ly6h (MGI:1346030)
chr8	143213218	143217170	8q24.3	8q24.3	612757	GPIHBP1, HYPL1D	Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1	GPIHBP1	338328	ENSG00000277494		Hyperlipoproteinemia, type 1D, 615947 (3), Autosomal recessive	Gpihbp1 (MGI:1915703)
chr8	143267445	143276931	8q24.3	8q24.3	165280	GLI4, HKR4	GLI-Kruppel family member GLI4 (oncogene HKR4)	GLI4	2738	ENSG00000250571			
chr8	143309324	143359977	8q24.3	8q24.3	606387	TOP1MT	Topoisomerase I, mitochondrial	TOP1MT	116447	ENSG00000184428			Top1mt (MGI:1920210)
chr8	143364255	143384221	8q24.3	8q24.3	601031	RHPN1, ODF5	Rhophilin 1	RHPN1	114822	ENSG00000158106			Rhpn1 (MGI:1098783)
chr8	143428064	143430732	8q24	8q24.3	610303	MAFA, RIPE3B1, INSDM	MAF bZIP transcription factor A	MAFA	389692	ENSG00000182759		Insulinomatosis and diabetes mellitus, 147630 (3), Autosomal dominant	Mafa (MGI:2673307)
chr8	143437659	143541447	8q24.3	8q24.3	618640	ZC3H3, SMICL	Zinc finger CCCH domain-containing protein 3	ZC3H3	23144	ENSG00000014164			Zc3h3 (MGI:2663721)
chr8	143553387	143563062	8q24.3	8q24.3	617042	GSDMD, GSDMDC1, DFNA5L	Gasdermin D	GSDMD	79792	ENSG00000104518			Gsdmd (MGI:1916396)
chr8	143572874	143578330	8q24.3	8q24.3	611552	NAPRT, NAPRT1	Nicotinate phosphoribosyltransferase	NAPRT	93100	ENSG00000147813			Naprt (MGI:2442664)
chr8	143579728	143597415	8q24.3	8q24.3	130592	EEF1D, EF1D	Eukaryotic translation elongation factor 1, delta	EEF1D	1936	ENSG00000104529			Eef1d (MGI:1913906)
chr8	143603210	143609575	8q24.3	8q24.3	616408	PYCRL, PYCR3	Pyrroline-5-carboxylate reductase-like	PYCR3	65263	ENSG00000104524			Pycr3 (MGI:1913444)
chr8	143612618	143618048	8q24.3	8q24.3	137020	GFUS, TSTA3, FX	GDP-L-fucose synthase	GFUS	7264	ENSG00000104522			Gfus (MGI:98857)
chr8	143716349	143722458	8q24.3	8q24.3	618616	MAPK15, ERK8	Mitogen-activated protein kianse 15	MAPK15	225689	ENSG00000181085			Mapk15 (MGI:2652894)
chr8	143723933	143733779	8q24.3	8q24.3	611927	FAM83H, AI3A	Family with sequence similarity 83, member H	FAM83H	286077	ENSG00000180921		Amelogenesis imperfecta, type IIIA, 130900 (3), Autosomal dominant	Fam83h (MGI:2145900)
chr8	143734139	143790645	8q24.3	8q24.3	618942	IQANK1, FAM83HAS1	IQ motif- and ankyrin repeat-containing protein 1	IQANK1	642574	ENSG00000203499			Iqank1 (MGI:3588184)
chr8	143790925	143815773	8q24.3	8q24.3	607733	SCRIB, SCRB1, KIAA0147	Scribble planar cell polarity protein	SCRIB	23513	ENSG00000180900			Scrib (MGI:2145950)
chr8	143816344	143829315	8q24.3	8q24.3	604819	PUF60, FIR, SIAHBP1, VRJS	Poly-U-binding splicing factor, 60kD	PUF60	22827	ENSG00000179950		Verheij syndrome, 615583 (3), Autosomal dominant	Puf60 (MGI:1915209)
chr8	143829776	143840973	8q24.3	8q24.3	615563	NRBP2	Nuclear receptor-binding protein 2	NRBP2	340371	ENSG00000185189			Nrbp2 (MGI:2385017)
chr8	143857324	143879194	8q24.3	8q24.3	607553	EPPK1	Epiplakin 1	EPPK1	83481	ENSG00000261150			Eppk1 (MGI:2386306)
chr8	143915153	143976745	8q24	8q24.3	601282	PLEC1, PLEC, PLTN, LGMDR17, EBS5A, EBS5B, EBS5C, EBS5D	Plectin 1	PLEC	5339	ENSG00000178209	mutation identified in 1 EBS5D family	?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, 616487 (3), Autosomal recessive; Epidermolysis bullosa simplex 5B, with muscular dystrophy, 226670 (3), Autosomal recessive; Epidermolysis bullosa simplex 5C, with pyloric atresia, 612138 (3), Autosomal recessive; Epidermolysis bullosa simplex 5A, Ogna type, 131950 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3), Autosomal recessive	Plec (MGI:1277961)
chr8	143945191	143945279	8q24.3	8q24.3	613716	MIR661, MIRN661	Micro RNA 661	MIR661	724031	ENSG00000207574			
chr8	143977158	144012764	8q24.3	8q24.3	609564	PARP10	Poly(ADP-ribose) polymerase 10	PARP10	84875	ENSG00000178685			Parp10 (MGI:3712326)
chr8	143990056	143993415	8q24.3	8q24.3	138251	GRINA, NMDARA1	Glutamate receptor, ionotropic, N-methyl	GRINA	2907	ENSG00000178719			Grina (MGI:1913418)
chr8	144010977	144047114	8q24	8q24.3	610874	SPATC1	Spermatogenesis- and centriole-associated 1 (speriolin)	SPATC1	375686	ENSG00000186583			Spatc1 (MGI:1921531)
chr8	144050322	144063961	8q24.3	8q24.3	614243	OPLAH, OPLAHD	5-oxoprolinase (ATP-hydrolyzing)	OPLAH	26873	ENSG00000178814		5-oxoprolinase deficiency, 260005 (3), Autosomal recessive, Autosomal dominant	Oplah (MGI:1922725)
chr8	144064056	144080648	8q24.3	8q24.3	606491	EXOSC4, RRP41	Exosome component 4	EXOSC4	54512	ENSG00000178896			Exosc4 (MGI:1923576)
chr8	144082634	144086216	8q24	8q24.3	603048	GPAA1, GAA1, GPIBD15	Glycophosphatidylinositol anchor attachment protein 1	GPAA1	8733	ENSG00000197858		Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive	Gpaa1 (MGI:1202392)
chr8	144095076	144097525	8q24.3	8q24.3	123980	CYC1, MC3DN6	Cytochrome c1	CYC1	1537	ENSG00000179091		Mitochondrial complex III deficiency, nuclear type 6, 615453 (3), Autosomal recessive	Cyc1 (MGI:1913695)
chr8	144098637	144103773	8q24.3	8q24.3	611885	SHARPIN, SIPL1, AIFID	SHANK-associated RH domain interactor	SHARPIN	81858	ENSG00000179526		Autoinflammation with episodic fever and immune dysregulation, 620795 (3), Autosomal recessive	Sharpin (MGI:1913331)
chr8	144104461	144107611	8q24.3	8q24.3	610210	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	MAF1	84232	ENSG00000179632			Maf1 (MGI:1916127)
chr8	144137774	144140851	8q24.3	8q24.3	620684	HGH1, FAM203A, FAM203B, C8orf30A, C8orf30B	HGH1 homolog	HGH1	51236	ENSG00000235173			Hgh1 (MGI:1930628)
chr8	144262045	144291438	8q24	8q24.3	610596	BOP1, KIAA0124	Block of proliferation 1	BOP1	23246	ENSG00000261236			Bop1 (MGI:1334460)
chr8	144266453	144268481	8q24.3	8q24.3	609067	SCX, SCXA, SCXB	Scleraxis bHLH transcription factor	SCX	642658	ENSG00000260428			Scx (MGI:102934)
chr8	144291604	144314720	8q24.3	8q24.3	140580	HSF1	Heat-shock transcription factor 1	HSF1	3297	ENSG00000185122			Hsf1 (MGI:96238)
chr8	144314584	144326852	8q24.3	8q24.3	604900	DGAT1, ARGP1, DIAR7	Diacylglycerol O-acyltransferase 1	DGAT1	8694	ENSG00000185000		Diarrhea 7, protein-losing enteropathy type, 615863 (3), Autosomal recessive	Dgat1 (MGI:1333825)
chr8	144330565	144336482	8q24.3	8q24.3	605858	SCRT1	Scratch family transcriptional repressor 1	SCRT1	83482	ENSG00000261678			Scrt1 (MGI:2176606)
chr8	144355431	144358472	8q24.3	8q24.3	609076	FBXL6, FBL6, FBL6A	F-box and leucine-rich repeat protein 6	FBXL6	26233	ENSG00000182325			Fbxl6 (MGI:1354705)
chr8	144358552	144361272	8q24.3	8q24.3	607882	SLC52A2, GPR172A, GPCR41, PAR1, FLJ11856, BVVLS2	Solute carrier family 52, riboflavin transporter, member 2	SLC52A2	79581	ENSG00000185803		Brown-Vialetto-Van Laere syndrome 2, 614707 (3), Autosomal recessive	Slc52a2 (MGI:1289288)
chr8	144393231	144409335	8q24.3	8q24.3	606027	CPSF1, CPSF160, MYP27	Cleavage and polyadenylation specificity factor 1	CPSF1	29894	ENSG00000071894		Myopia 27, 618827 (3), Autosomal dominant	Cpsf1 (MGI:2679722)
chr8	144412414	144416844	8q24.3	8q24.3	607059	SLC39A4, ZIP4	Solute carrier family 36 (zinc transporter), member 4	SLC39A4	55630	ENSG00000147804		Acrodermatitis enteropathica, 201100 (3), Autosomal recessive	Slc39a4 (MGI:1919277)
chr8	144423617	144428548	8q24.3	8q24.3	611952	VPS28	VPS28 subunit of ESCRT-I	VPS28	51160	ENSG00000160948			Vps28 (MGI:1914164)
chr8	144428775	144444440	8q24.3	8q24.3	604546	TONSL, NFKBIL2, IKBR, SEMDSP	Tonsoku-like DNA repair protein	TONSL	4796	ENSG00000160949		Spondyloepimetaphyseal dysplasia, sponastrime type, 271510 (3), Autosomal recessive	Tonsl (MGI:1919999)
chr8	144449582	144462871	8q24.3	8q24.3	616635	CYHR1, KIAA0496	Cysteine- and histidine-rich protein 1	ZFTRAF1	50626	ENSG00000187954			Zftraf1 (MGI:1859320)
chr8	144466049	144474202	8q24.3	8q24.3	615216	KIFC2	Kinesin family member C2	KIFC2	90990	ENSG00000167702			Kifc2 (MGI:109187)
chr8	144473412	144475849	8q24.3	8q24.3	603621	FAST1	Forkhead activin signal transducer 1, Xenopus, homolog of	FOXH1	8928	ENSG00000160973			Foxh1 (MGI:1347465)
chr8	144477982	144502121	8q24.3	8q24.3	609172	PPP1R16A, MYPT3	Protein phosphatase 1, regulatory subunit 16A	PPP1R16A	84988	ENSG00000160972			Ppp1r16a (MGI:1920312)
chr8	144503068	144507172	8q24.3	8q24.3	138200	GPT, GPT1, AAT1	Glutamic-pyruvate transaminase (alanine aminotransferase)	GPT	2875	ENSG00000167701			Gpt (MGI:95802)
chr8	144509070	144511213	8q24.3	8q24.3	620308	MFSD3	Major facilitator superfamily domain-containing protein 3	MFSD3	113655	ENSG00000167700			Mfsd3 (MGI:1916822)
chr8	144511288	144517833	8q24.3	8q24.3	603780	RECQL4, RTS, RECQ4	DNA helicase, RecQ-like 4	RECQL4	9401	ENSG00000160957		Baller-Gerold syndrome, 218600 (3), Autosomal recessive; Rothmund-Thomson syndrome, type 2, 268400 (3), Autosomal recessive; RAPADILINO syndrome, 266280 (3), Autosomal recessive	Recql4 (MGI:1931028)
chr8	144517992	144525178	8q24.3	8q24.3	619368	LRRC14, KIAA0014	Leucine-rich repeat-containing protein 14	LRRC14	9684	ENSG00000160959			Lrrc14 (MGI:2445060)
chr8	144522388	144527033	8q24.3	8q24.3	620672	LRRC24	Leucine-rich repeat-containing protein 24	LRRC24	441381	ENSG00000254402			Lrrc24 (MGI:3605040)
chr8	144529179	144700362	8q24.3	8q24.3	615880	ARHGAP39, VILSE, KIAA1688	RHO GTPase-activating protein 39	ARHGAP39	80728	ENSG00000147799			Arhgap39 (MGI:107858)
chr8	144772224	144787317	8q24.12-q24.13	8q24.3	194526	ZNF34, KOX32	Zinc finger protein-34 (KOX32)	ZNF34	80778	ENSG00000196378			
chr8	144789769	144792390	8q	8q24.3	604177	RPL8	Ribosomal protein L8	RPL8	6132	ENSG00000161016			Rpl8 (MGI:1350927)
chr8	144827560	144847508	8q24	8q24.3	194531	ZNF7, KOX4	Zinc finger protein-7 (KOX4)	ZNF7	7553	ENSG00000147789			Zfp7 (MGI:99208)
chr8	144837978	144853556	8q24.3	8q24.3	608216	COMMD5, HCARG	COMM domain-containing protein 5	COMMD5	28991	ENSG00000170619			Commd5 (MGI:1913648)
chr8	144930358	144950880	8q24	8q24.3	601262	ZNF16, KOX9	Zinc finger protein-16 (KOX 9)	ZNF16	7564	ENSG00000170631			
chr8	1	145138636	Chr.8		608392	AIS3, VAMAS4	Autoimmune disease, susceptibility to, 3		378427			{Autoimmune disease, susceptibility to, 3}, 608392 (2)	
chr8	1	145138636	Chr.8		147860	IFNB3	Interferon, beta-3, fibroblast				previously assigned to 2p23-qter		
chr9	1	43000001	9p		158170	DEL9p, C9DELp	Chromosome 9p deletion syndrome					Chromosome 9p deletion syndrome, 158170 (4), Autosomal dominant	
chr9	1	2200000	9p24.3		154230	DEL9p24.3, C9DELp24.3, SRXY4	Chromosome 9p24.3 deletion syndrome					46XY sex reversal 4, 154230 (4), Isolated cases	
chr9	1	43000001	9p		606613	HDLCQ1	High density lipoprotein cholesterol level QTL 1		192144			[High density lipoprotein cholesterol level QTL 1], 606613 (2)	
chr9	1	9000000	9p24		614113	MRD2	Intellectual developmental disorder, autosomal dominant 2				2 patients reported with genomic deletion or rearrangement including disruption of DOCK8	Intellectual developmental disorder, autosomal dominant 2, 614113 (4), Autosomal dominant	
chr9	1	19900000	9p24-p22		610438	RLS3	Restless legs syndrome, susceptibility to, 3		100188812		associated with rs4626664 and rs1975197	{Restless legs syndrome 3}, 610438 (2)	
chr9	14513	30487	9p24.3	9p24.3	613632	WASHC1, WASH1	WASH complex, subunit 1	WASHC1	100287171	ENSG00000181404	pseudogenes on 1p, 15q, 16p, Xq/Yq		Washc1 (MGI:1916017)
chr9	116231	118417	9q21.11	9p24.3	601092	FOXD4, FKHL9	Forkhead box D4	FOXD4	2298	ENSG00000170122			Foxd4 (MGI:1347467)
chr9	120837	179056	9p24.3	9p24.3	611078	CBWD1	Cobalamin synthetase W domain-containing protein 1	ZNG1A	55871	ENSG00000172785			Zng1 (MGI:2385089)
chr9	211257	465255	9p24	9p24.3	611432	DOCK8, HIES2	Dedicator of cytokinesis 8	DOCK8	81704	ENSG00000107099		Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections, 243700 (3), Autosomal recessive	Dock8 (MGI:1921396)
chr9	470295	746103	9p24.3	9p24.3	607704	KANK1, KANK, ANKRD15, KIAA0172, CPSQ2	KN motif- and ankyrin repeat domain-containing protein 1	KANK1	23189	ENSG00000107104		Cerebral palsy, spastic quadriplegic, 2, 612900 (3)	Kank1 (MGI:2147707)
chr9	841697	969090	9p24.3	9p24.3	602424	DMRT1, DMT1	Double sex and mab-3-related transcription factor-1	DMRT1	1761	ENSG00000137090			Dmrt1 (MGI:1354733)
chr9	976655	991732	9p24.3	9p24.3	614754	DMRT3, DMRTA3	Doublesex-and mab3-related transcription factor 3	DMRT3	58524	ENSG00000064218			Dmrt3 (MGI:2449470)
chr9	1050357	1057552	9p24.3	9p24.3	604935	DMRT2	Double sex and mab-3-related transcription factor-2	DMRT2	10655	ENSG00000173253			Dmrt2 (MGI:1330307)
chr9	2015347	2193620	9p24-p23	9p24.3	600014	SMARCA2, SNF2L2, NCBRS, BIS	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	SMARCA2	6595	ENSG00000080503		Nicolaides-Baraitser syndrome, 601358 (3), Autosomal dominant; Blepharophimosis-impaired intellectual development syndrome, 619293 (3), Autosomal dominant	Smarca2 (MGI:99603)
chr9	2621787	2660056	9p24	9p24.2	192977	VLDLR, CAMRQ1	Very low density lipoprotein receptor	VLDLR	7436	ENSG00000147852		Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1, 224050 (3), Autosomal recessive	Vldlr (MGI:98935)
chr9	2717510	2730037	9p24.2	9p24.2	607604	KCNV2, KV11.1, RCD3B	Potassium channel, voltage-gated, subfamily V, member 2	KCNV2	169522	ENSG00000168263		Retinal cone dystrophy 3B, 610356 (3), Autosomal recessive	Kcnv2 (MGI:2670981)
chr9	2804152	2844095	9p24.2	9p24.2	609960	PUM3, KIAA0020, HLA-HA8	Pumilio RNA-binding family, member 3	PUM3	9933	ENSG00000080608			Pum3 (MGI:106253)
chr9	3218297	3526001	9p24.2	9p24.2	601337	RFX3	Regulatory factor X, 3	RFX3	5991	ENSG00000080298			Rfx3 (MGI:106582)
chr9	3824127	4490465	9p24.3-p23	9p24.2	610192	GLIS3, ZNF515, NDH	GLIS family zinc finger protein 3	GLIS3	169792	ENSG00000107249		Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3), Autosomal recessive	Glis3 (MGI:2444289)
chr9	4490468	4587469	9p24	9p24.2	133550	SLC1A1, EAAC1, SCZD18, DCBXA	Solute carrier family 1, member 1 (high-affinity glutamate transporter; excitatory amino acid carrier 1)	SLC1A1	6505	ENSG00000106688	mutation identified in 1 SCZD18 family	Dicarboxylic aminoaciduria, 222730 (3), Autosomal recessive; {?Schizophrenia susceptibility 18}, 615232 (3)	Slc1a1 (MGI:105083)
chr9	4600001	19900000	9p24.1-p22.1		613271	FECD7, FCD4	Corneal dystrophy, Fuchs endothelial, 7		100380875		max lod at D9S256	Corneal dystrophy, Fuchs endothelial, 7, 613271 (2)	
chr9	4662294	4665258	9p24.1	9p24.1	611666	PLPP6, PPAPDC2	PPAP2 domain-containing protein 2	PLPP6	403313	ENSG00000205808			Plpp6 (MGI:1921661)
chr9	4679569	4708399	9p24.1	9p24.1	610346	CDC37L1, HARC, FLJ20639	CDC37-like 1	CDC37L1	55664	ENSG00000106993			Cdc37l1 (MGI:1914322)
chr9	4709556	4742043	9p24.1	9p24.1	609290	AK3, AK3L1	Adenylate kinase 3	AK3	50808	ENSG00000147853			Ak3 (MGI:1860835)
chr9	4792944	4861066	9p24.1	9p24.1	611405	RCL1, RPCL1, RNAC	RNA terminal phosphate cyclase-like 1	RCL1	10171	ENSG00000120158			Rcl1 (MGI:1913275)
chr9	4850297	4850375	9p24.1	9p24.1	612512	MIR101-2, MIRN101-2	Micro RNA 101-2	MIR101-2	406894	ENSG00000199065	another locus, MIRN101-1, on 1p31		Mir101b (MGI:3618696)
chr9	4984390	5129948	9p24	9p24.1	147796	JAK2, THCYT3	Janus kinase 2 (a protein-tyrosine kinase)	JAK2	3717	ENSG00000096968		{Budd-Chiari syndrome, somatic}, 600880 (3); Myelofibrosis, somatic, 254450 (3); Erythrocytosis, somatic, 133100 (3); Leukemia, acute myeloid, somatic, 601626 (3); Thrombocythemia 3, 614521 (3), Somatic mutation, Autosomal dominant; Polycythemia vera, somatic, 263300 (3)	Jak2 (MGI:96629)
chr9	4991976	5185639	9p24	9p24.1	606414	INSL6	Insulin-like 6	INSL6	11172	ENSG00000120210			Insl6 (MGI:1351595)
chr9	5231419	5235304	9p24	9p24.1	600910	INSL4	Insulin-like 4, placenta	INSL4	3641	ENSG00000120211			
chr9	5299864	5339326	9pter-q12	9p24.1	179740	RLN2	Relaxin, H2	RLN2	6019	ENSG00000107014			Rln1 (MGI:97931)
chr9	5334930	5340916	9pter-q12	9p24.1	179730	RLN1	Relaxin, H1	RLN1	6013	ENSG00000107018			Rln1 (MGI:97931)
chr9	5357971	5438377	9p24.1	9p24.1	618444	PLGRKT	Plasminogen receptor with C-terminal lysine	PLGRKT	55848	ENSG00000107020			Plgrkt (MGI:1915009)
chr9	5450542	5470554	9p24	9p24.1	605402	CD274, PDCD1LG1, B7H1	CD274 molecule	CD274	29126	ENSG00000120217			Cd274 (MGI:1926446)
chr9	5510531	5571282	9p24.2	9p24.1	605723	PDCD1L2, PDL2	Programmed cell death 1 ligand 2	PDCD1LG2	80380	ENSG00000197646			Pdcd1lg2 (MGI:1930125)
chr9	5629107	5778633	9p24.1	9p24.1	610354	RIC1, CIP150, KIAA1432, CATIFA	RIC1 homolog, RAB6A GEF complex partner 1	RIC1	57589	ENSG00000107036		CATIFA syndrome, 618761 (3), Autosomal recessive	Ric1 (MGI:1924893)
chr9	5784572	5867091	9p24	9p24.1	611156	ERMP1, KIAA1815, FXNA	Endoplasmic reticulum metallopeptidase 1	ERMP1	79956	ENSG00000099219			Ermp1 (MGI:106250)
chr9	5890889	5910606	9p24.1	9p24.1	605513	MLANA, MART1	Melan A	MLANA	2315	ENSG00000120215			Mlana (MGI:108454)
chr9	6215149	6257983	9p24.1	9p24.1	608678	IL33, C9orf26, NFEHEV	Interleukin 33	IL33	90865	ENSG00000137033			Il33 (MGI:1924375)
chr9	6328375	6331891	9p24.1	9p24.1	617567	TPD52L3	Tumor protein D52-like 3	TPD52L3	89882	ENSG00000170777			Trpd52l3 (MGI:1913995)
chr9	6413199	6507054	9p24.1-p23	9p24.1	615211	UHRF2, NIRF	Ubiquitin-like protein containing PDH and RING finger domains 2, E3 ubiquitin protein ligase	UHRF2	115426	ENSG00000147854			Uhrf2 (MGI:1923718)
chr9	6532467	6645729	9p22	9p24.1	238300	GLDC, HYGN1, GCSP, GCE1, NKH	Glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)	GLDC	2731	ENSG00000178445		Glycine encephalopathy1, 605899 (3), Autosomal recessive	Gldc (MGI:1341155)
chr9	6720863	7175648	9p24.1	9p24.1	605469	KDM4C, JMJD2C, GASC1, KIAA0780	Lysine demethylase 4C	KDM4C	23081	ENSG00000107077			Kdm4c (MGI:1924054)
chr9	7796500	7799778	9p24.1	9p24.1	617261	TMEM261, DMAC1, C9orf123	Transmembrane protein 261	DMAC1	90871	ENSG00000137038			Dmac1 (MGI:1914178)
chr9	8314246	10613002	9p24.3-p23	9p24.1-p23	601598	PTPRD, PTPD, HPTP	Protein tyrosine phosphatase, receptor type, delta polypeptide	PTPRD	5789	ENSG00000153707			Ptprd (MGI:97812)
chr9	9000001	28000000	9p23-p21.2		613685	DFNB83	Deafness, autosomal recessive 83		100359400		between rs4742645 and rs1471364	Deafness, autosomal recessive 83, 613685 (2), Autosomal recessive	
chr9	9000001	43000000	9p23-p11		601992	FRDA2	Friedreich ataxia 2		2420			Friedreich ataxia 2, 601992 (2), Autosomal recessive	
chr9	9000001	36300000	9p23-p13.3		614208	MRT16	Intellectual developmental disorder, autosomal recessive 16		100689014		between rs10738277 and rs12376565	Intellectual developmental disorder, autosomal recessive 16, 614208 (2), Autosomal recessive	
chr9	12693385	12710285	9p23	9p23	115501	TYRP1, CAS2, GP75, SHEP11	Tyrosinase-related protein 1	TYRP1	7306	ENSG00000107165		[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3); Albinism, oculocutaneous, type III, 203290 (3), Autosomal recessive	Tyrp1 (MGI:98881)
chr9	12775020	12823060	9p23	9p23	616130	LURAP1L, LRAP35B	Leucine-rich adaptor protein 1-like	LURAP1L	286343	ENSG00000153714			Lurap1l (MGI:106510)
chr9	13105707	13279692	9p23	9p23	603785	MPDZ, MUPP1, HYC2	Multiple PDZ domain protein	MPDZ	8777	ENSG00000107186		Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3), Autosomal recessive	Mpdz (MGI:1343489)
chr9	14081843	14532077	9p24.1	9p23-p22.3	600728	NFIB, MACID	Nuclear factor I/B	NFIB	4781	ENSG00000147862		Macrocephaly, acquired, with impaired intellectual development, 618286 (3), Autosomal dominant	Nfib (MGI:103188)
chr9	14200001	33200000	9p22-p21		608652	DFNA47, DFNB83	Deafness, autosomal dominant 47		246289		between D9S268 and D9S942; possibly allelic to DFNB83	Deafness, autosomal dominant 47, 608652 (2), Autosomal dominant	
chr9	14200001	33200000	9p22-p21		247640	LALL	Lymphomatous acute lymphoblastic leukemia		8009			Leukemia, acute lymphoblastic, 247640 (2), Autosomal recessive	
chr9	14588797	14693432	9p22.3	9p22.3	614605	ZDHHC21, DHHC21	Zinc finger DHHC domain-containing protein 21	ZDHHC21	340481	ENSG00000175893			Zdhhc21 (MGI:1915518)
chr9	14717326	14722733	9p22	9p22.3	603777	CER1	Cerebrus 1, Xenopus, homolog of	CER1	9350	ENSG00000147869			Cer1 (MGI:1201414)
chr9	14737152	14910995	9p22.3	9p22.3	608944	FREM1, C9orf154, BNAR, MOTA, TRIGNO2	FRAS1-related extracellular matrix protein 1	FREM1	158326	ENSG00000164946		Manitoba oculotrichoanal syndrome, 248450 (3), Autosomal recessive; Bifid nose with or without anorectal and renal anomalies, 608980 (3), Autosomal recessive; Trigonocephaly 2, 614485 (3), Autosomal dominant	Frem1 (MGI:2670972)
chr9	15163622	15307216	9p22.3	9p22.3	613574	TTC39B	Tetratricopeptide repeat domain 39B	TTC39B	158219	ENSG00000155158			Ttc39b (MGI:1917113)
chr9	15422876	15466735	9p22.3	9p22.3	602348	SNAPC3, SNAP50	Small nuclear RNA-activating protein complex, polypeptide 3	SNAPC3	6619	ENSG00000164975			Snapc3 (MGI:1916338)
chr9	15464066	15510970	9p22.2	9p22.3	603620	PSIP1, LEDGF	PC4- and SFRS1-interacting protein 1	PSIP1	11168	ENSG00000164985			Psip1 (MGI:2142116)
chr9	16409503	16870670	9p22.1	9p22.3-p22.2	608669	BNC2, LUTO	Basonuclin 2	BNC2	54796	ENSG00000173068		Lower urinary tract obstruction, congenital, 618612 (3), Autosomal dominant	Bnc2 (MGI:2443805)
chr9	17135040	17528634	9p22.2	9p22.2	611870	CNTLN, C9orf101, C9orf39	Centlein	CNTLN	54875	ENSG00000044459			Cntln (MGI:2443104)
chr9	17579066	17797124	9p22	9p22.2	604465	SH3GL2, SH3P4	SH3 domain, GRB2-like, 2	SH3GL2	6456	ENSG00000107295			Sh3gl2 (MGI:700009)
chr9	17906633	18910950	9p22.1-p21.2	9p22.2-p22.1	609198	ADAMTSL1	ADAMTS-like protein 1	ADAMTSL1	92949	ENSG00000178031			Adamtsl1 (MGI:1924989)
chr9	18500001	19900000	9p22.1		609790	AD11	Alzheimer disease 11		100188795		between D9S157 and D9S259	Alzheimer disease-11, 609790 (2)	
chr9	18927650	19049339	9p22.1	9p22.1	616292	SAXO1, FAM154A	Stabilizer of axonemal microtubules 1	SAXO1	158297	ENSG00000155875			Saxo1 (MGI:1923061)
chr9	19049427	19051025	9p22.1	9p22.1	612194	RRAGA, RAGA, FIP1	Ras-related GTP-binding protein A	RRAGA	10670	ENSG00000155876			Rraga (MGI:1915691)
chr9	19053141	19102904	9p22.1	9p22.1	613433	HAUS6, DGT6, FAM29A	HAUS, augmin-like complex, subunit 6	HAUS6	54801	ENSG00000147874			Haus6 (MGI:1923389)
chr9	19063656	19063786	9p22.1	9p22.1	615646	SCARNA8	Small Cajal body-specific RNA 8	SCARNA8	677776	ENSG00000251733			
chr9	19108388	19127492	9p22.1	9p22.1	103195	PLIN2	Perilipin 2	PLIN2	123	ENSG00000147872			Plin2 (MGI:87920)
chr9	19375715	19380236	9p21	9p22.1	180460	RPS6	Ribosomal protein S6	RPS6	6194	ENSG00000137154			Rps6,Rps6-ps4 (MGI:3650907,MGI:98159)
chr9	19409009	19452505	9p22.1	9p22.1	613492	ACER2	Alkaline ceramidase 2	ACER2	340485	ENSG00000177076			Acer2 (MGI:1920932)
chr9	19507455	20307892	9p22	9p22.1-p21.3	609838	SLC24A2, NCKX2	Solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	SLC24A2	25769	ENSG00000155886			Slc24a2 (MGI:1923626)
chr9	19900001	33200000	9p21		611891	AAA3	Aneurysm, familial abdominal 3		100188857		associated with rs10757278	{Aneurysm, familial abdominal 3}, 611891 (2)	
chr9	19900001	33200000	9p21		611892	ANIB6	Aneurysm, intracranial berry, 6		100188858		associated with rs10757278	{Aneurysm, intracranial berry, 6}, 611892 (2)	
chr9	19900001	33200000	9p21		613062	BCC5	Basal cell carcinoma, susceptibility to, 5		100307122		associated with rs2151280	{Basal cell carcinoma, susceptibility to, 5}, 613062 (2)	
chr9	19900001	33200000	9p21		611139	CHDS8	Coronary heart disease, susceptibility to, 8		100188836		strongest linkage with dbSNP rs1333049	{Coronary heart disease, susceptibility to, 8}, 611139 (2)	
chr9	19900001	25600000	9p21.3		613030	GLM5	Glioma susceptibility 5		100415894		associated with rs4977756	{Glioma susceptibility 5}, 613030 (2)	
chr9	19900001	33200000	9p21		612099	MFT2, TEM	Trichoepithelioma, multiple familial, 2		100188881		max lod at D9S171	Trichoepithelioma, multiple familial, 2, 612099 (2)	
chr9	20341669	20622499	9p22	9p21.3	159558	MLLT3, AF9	Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3	MLLT3	4300	ENSG00000171843	fuses with ALL1		Mllt3 (MGI:1917372)
chr9	20655625	20995950	9p21.3	9p21.3	614606	FOCAD, KIAA1797, SCOLIV	Focadhesin	FOCAD	54914	ENSG00000188352		Liver disease, severe congenital, 619991 (3), Autosomal recessive	Focad (MGI:2676921)
chr9	20999509	21031640	9p21.3	9p21.3	615941	PTPLAD2, HACD4	Protein tyrosine phosphatase-like A domain-containing protein 2	HACD4	401494	ENSG00000188921			Hacd4 (MGI:1914025)
chr9	21077104	21077942	9p21	9p21.3	147640	IFNB1	Interferon, beta-1, fibroblast	IFNB1	3456	ENSG00000171855	distal to IFL; ?9p23-p22; IFF duplicate in some		Ifnb1 (MGI:107657)
chr9	21140632	21141832	9p21	9p21.3	147553	IFNW1	Interferon, omega-1	IFNW1	3467	ENSG00000177047	pseudogene IFNWP2; interspersed with IFNA		
chr9	21165637	21166660	9p22	9p21.3	147584	IFNA21	Interferon, alpha-21	IFNA21	3452	ENSG00000137080			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21186618	21187587	9p22	9p21.3	147564	IFNA4	Interferon, alpha-4	IFNA4	3441	ENSG00000236637			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21201469	21202205	9p22	9p21.3	147567	IFNA7	Interferon, alpha-7	IFNA7	3444	ENSG00000214042			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21206181	21207143	9p22	9p21.3	147577	IFNA10	Interferon, alpha-10	IFNA10	3446	ENSG00000186803			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21216373	21217311	9p22	9p21.3	147580	IFNA16	Interferon, alpha-16	IFNA16	3449	ENSG00000147885			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21227243	21228222	9p22	9p21.3	147583	IFNA17	Interferon, alpha-17	IFNA17	3451	ENSG00000234829			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21239002	21240005	9p22	9p21.3	147579	IFNA14	Interferon, alpha-14	IFNA14	3448	ENSG00000228083			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21304326	21305313	9p22	9p21.3	147565	IFNA5	Interferon, alpha-5	IFNA5	3442	ENSG00000147873			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21329665	21335404	9p21.3	9p21.3	611201	KLHL9, KIAA1354	Kelch-like 9	KLHL9	55958	ENSG00000198642			Klhl9 (MGI:2180122)
chr9	21350318	21350887	9p22	9p21.3	147566	IFNA6	Interferon, alpha-6	IFNA6	3443	ENSG00000120235			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21367372	21368057	9p22	9p21.3	147578	IFNA13	Interferon, alpha-13	IFNA13	3447	ENSG00000233816			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21384255	21385398	9p22	9p21.3	147562	IFNA2	Interferon, alpha-2	IFNA2	3440	ENSG00000188379			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21409117	21410185	9p22	9p21.3	147568	IFNA8	Interferon, alpha-8	IFNA8	3445	ENSG00000120242			Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21440439	21441316	9p22	9p21.3	147660	IFNA1, IFNA@	Interferon, alpha-1	IFNA1	3439	ENSG00000197919	very close to IFF by Fd, LD; 15-30 genes	Interferon, alpha, deficiency (1)	Ifna1,Ifna11,Ifna12,Ifna13,Ifna14,Ifna15,Ifna16,Ifna2,Ifna4,Ifna5,Ifna6,Ifna7,Ifna9,Ifnab (MGI:107659,MGI:107661,MGI:107662,MGI:107663,MGI:107664,MGI:107666,MGI:107668,MGI:109210,MGI:1097683,MGI:2667155,MGI:2676324,MGI:3641425,MGI:3649260,MGI:3649418)
chr9	21454268	21559798	9p21.3	9p21.3	616356	MIR31HG, LOC554202	Micro RNA 31 host gene, noncoding	MIR31HG	554202	ENSG00000171889			
chr9	21480839	21482313	9p21	9p21.3	615223	IFNE, INFE1, IFNT1	Interferon, epsilon	IFNE	338376	ENSG00000184995			Ifne (MGI:2667156)
chr9	21512115	21512185	9p21.3	9p21.3	612155	MIR31, MIRN31	Micro RNA 31	MIR31	407035	ENSG00000199177			Mir31 (MGI:3619330)
chr9	21802636	21941115	9p21	9p21.3	156540	MTAP, DMSMFH	Methylthioadenosine phosphorylase	MTAP	4507	ENSG00000099810		Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3), Autosomal dominant	Mtap (MGI:1914152)
chr9	21967752	21995324	9p21	9p21.3	600160	CDKN2A, MTS1, P16, MLM, CMM2	Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4)	CDKN2A	1029	ENSG00000147889		{Melanoma and neural system tumor syndrome}, 155755 (3), Autosomal dominant; {Melanoma, cutaneous malignant, 2}, 155601 (3), Autosomal dominant; {Melanoma-pancreatic cancer syndrome}, 606719 (3), Autosomal dominant	Cdkn2a (MGI:104738)
chr9	21994791	22128142	9p21	9p21.3	613149	CDKN2BAS, ANRIL	CDKN2B antisense RNA	CDKN2B-AS1	100048912	ENSG00000240498			
chr9	22002903	22009313	9p21	9p21.3	600431	CDKN2B, MTS2, P15, INK4B	Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	CDKN2B	1030	ENSG00000147883	tandem with MTS1		Cdkn2b (MGI:104737)
chr9	22446824	22455740	9p21.3	9p21.3	614803	DMRTA1, DMRT4	Doublesex- and MAB3-related transcription factor A1	DMRTA1	63951	ENSG00000176399			Dmrta1 (MGI:2653627)
chr9	23690104	23850601	9p21	9p21.3	601673	ELAVL2, HELN1, HUB	ELAV-like RNA binding protein 2 (Hu antigen B)	ELAVL2	1993	ENSG00000107105			Elavl2 (MGI:1100887)
chr9	24542952	24545897	9p21.3	9p21.3	618896	IZUMO3	IZUMO family, member 3	IZUMO3	100129669	ENSG00000205442			Izumo3 (MGI:1916564)
chr9	25600001	28000000	9p21.2		617651	EMICER1	EQTN, MOB3B, IFNK, and C9orf72 enhancer RNA I, noncoding						
chr9	25676969	25678444	9p21	9p21.2	610529	TUSC1, TSG9	Tumor suppressor candidate 1	TUSC1	286319	ENSG00000198680			Tusc1 (MGI:2684283)
chr9	26903372	26947242	9p21.2	9p21.2	603873	PLAA, PLAP, NDMSBA	Phospholipase A2-activating protein	PLAA	9373	ENSG00000137055		Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive	Plaa (MGI:104810)
chr9	26947110	27066134	9p21.2	9p21.2	608040	IFT74, CCDC2, CMG1, BBS22, JBTS40, SPGF58	Intraflagellar transport 74	IFT74	80173	ENSG00000096872		Bardet-Biedl syndrome 22, 617119 (3), Autosomal recessive; Spermatogenic failure 58, 619585 (3), Autosomal recessive; Joubert syndrome 40, 619582 (3), Autosomal recessive	Ift74 (MGI:1914944)
chr9	26993136	27005672	9p21.2	9p21.2	619068	LRRC19	Leucine-rich repeat-containing protein 19	LRRC19	64922	ENSG00000184434			Lrrc19 (MGI:2140219)
chr9	27109225	27230174	9p21	9p21.2	600221	TEK, TIE2, VMCM, GLC3E	TEK tyrosine kinase, endothelial	TEK	7010	ENSG00000120156		Venous malformations, multiple cutaneous and mucosal, 600195 (3), Autosomal dominant; Glaucoma 3, primary congenital, E, 617272 (3), Autosomal dominant	Tek (MGI:98664)
chr9	27284654	27297150	9p21.2	9p21.2	617653	EQTN, AFAF, SPACA8, C9orf11	Equatorin	EQTN	54586	ENSG00000120160			Eqtn (MGI:1915003)
chr9	27325209	27529814	9p21.2	9p21.2	617652	MOB3B, MOB1D, MOBKL2B, C9orf35	MOB kinase activator 3B	MOB3B	79817	ENSG00000120162			Mob3b (MGI:2664539)
chr9	27524290	27526498	9p21.2	9p21.2	615326	IFNK	Interferon, kappa	IFNK	56832	ENSG00000147896			Ifnk (MGI:2683287)
chr9	27546546	27573866	9p21	9p21.2	614260	C9orf72, FTDALS1, FTDALS, ALSFTD	Chromosome 9 open reading frame 72	C9orf72	203228	ENSG00000147894		Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3), Autosomal dominant	C9orf72 (MGI:1920455)
chr9	27937617	29213601	9p21.2-p21.1	9p21.2-p21.1	609793	LRRN6C, LINGO2, LERN3	Leucine-rich repeat protein, neuronal, 6C	LINGO2	158038	ENSG00000174482			Lingo2 (MGI:2442298)
chr9	28888879	28888955	9p21.1	9p21.1	616137	MIR873	Micro RNA 873	MIR873	100126316	ENSG00000215939			Mir873a (MGI:3718563)
chr9	32384643	32454769	9p21.2	9p21.1	100880	ACO1, IREB1	Aconitase 1 (iron-responsive element-binding protein-1)	ACO1	48	ENSG00000122729			Aco1 (MGI:87879)
chr9	32455302	32526196	9p21.1	9p21.1	609631	RIGI, DDX58, SGMRT2	RNA sensor RIG-I	RIGI	23586	ENSG00000107201		Singleton-Merten syndrome 2, 616298 (3), Autosomal dominant	Rigi (MGI:2442858)
chr9	32540544	32552586	9p21	9p21.1	609507	TOPORS, P53BP3, LUN, RP31	Topoisomerase I-binding arginine/serine-rich protein	TOPORS	10210	ENSG00000197579		Retinitis pigmentosa 31, 609923 (3), Autosomal dominant	Topors (MGI:2146189)
chr9	32553001	32573159	9p21.1	9p21.1	603322	NDUFB6	NADH-ubiquinone oxidoreductase subunit B6	NDUFB6	4712	ENSG00000165264			Ndufb6 (MGI:2684983)
chr9	32629454	32635669	9p21.1	9p21.1	607798	TAF1L	TATA box-binding protein-associated factor 1-like	TAF1L	138474	ENSG00000122728			Taf1 (MGI:1336878)
chr9	32972616	33025120	9p13.3	9p21.1	606350	APTX, AOA, AOA1	Aprataxin	APTX	54840	ENSG00000137074		Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3), Autosomal recessive	Aptx (MGI:1913658)
chr9	33025273	33039907	9p21.1	9p21.1	602837	DNAJA1, HSDJ, HSPF4	DNAJ/HSP40 homolog, subfamily A, member 1	DNAJA1	3301	ENSG00000086061			Dnaja1 (MGI:1270129)
chr9	33041765	33076674	9p21.1	9p21.1	617811	SMU1	DNA replication regulator and spliceosomal factor SMU1	SMU1	55234	ENSG00000122692			Smu1 (MGI:1915546)
chr9	33104077	33185089	9p13	9p21.1	137060	B4GALT1, GGTB2, GT1, GTB, CDG2D, CLDLFIB	Glycoprotein-4-beta-galactosyltransferase-2 (EC 2.4.1.22)	B4GALT1	2683	ENSG00000086062		Combined low LDL and fibrinogen, 620364 (3), Autosomal recessive; Congenital disorder of glycosylation, type IId, 607091 (3), Autosomal recessive	B4galt1 (MGI:95705)
chr9	33200001	39000000	9p13		609403	PEE3	Preeclampsia/eclampsia 3		780909			Preeclampsia/eclampsia 3, 609403 (2)	
chr9	33240167	33248567	9p13.3	9p13.3	613929	SPINK4, PEC60	Serine protease inhibitor, Kazal-type, 4	SPINK4	27290	ENSG00000122711			Spink4 (MGI:1341848)
chr9	33252471	33264708	9p12	9p13.3	601497	BAG1	BAG cochaperone 1	BAG1	573	ENSG00000107262			Bag1 (MGI:108047)
chr9	33265049	33282070	9p13.3	9p13.3	610900	CHMP5	Charged multivesicular body protein 5	CHMP5	51510	ENSG00000086065			Chmp5 (MGI:1924209)
chr9	33290516	33371157	9p13.3	9p13.3	603255	NFX1	Nuclear transcription factor, X box-binding, protein 1	NFX1	4799	ENSG00000086102			Nfx1 (MGI:1921414)
chr9	33383191	33402568	9p13	9p13.3	602974	AQP7, GLYCQTL	Aquaporin-7	AQP7	364	ENSG00000165269		[Glycerol quantitative trait locus], 614411 (3), Autosomal recessive	Aqp7 (MGI:1314647)
chr9	33441160	33447593	9p13	9p13.3	600170	AQP3	Aquaporin-3	AQP3	360	ENSG00000165272	incorrectly mapped to chr.7	[Blood group GIL], 607457 (3)	Aqp3 (MGI:1333777)
chr9	33461353	33473924	9p13	9p13.3	611532	NOL6, NRAP	Nucleolar protein 6	NOL6	65083	ENSG00000165271			Nol6 (MGI:2140151)
chr9	33524251	33575442	9p13.3	9p13.3	618930	ANKRD18B	Ankyrin repeat domain-containing protein 18B	ANKRD18B	441459	ENSG00000230453			
chr9	33673504	33677420	9p13.3	9p13.3	613531	PTENP1	Phosphatase and tensin homolog pseudogene 1 (functional)	PTENP1	11191	ENSG00000293199			
chr9	33750679	33799231	9p13	9p13.3	613578	PRSS3, TRY3, T9	Protease, serine, 3	PRSS3	5646	ENSG00000010438			Try4,Try5 (MGI:102756,MGI:102757)
chr9	33815168	33920399	9p22.1	9p13.3	612506	UBE2R2, UBC3B	Ubiquitin-conjugating enzyme E2 R2	UBE2R2	54926	ENSG00000107341			Ube2r2 (MGI:1914865)
chr9	34086387	34126698	9p13.3	9p13.3	620087	DCAF12, KIAA1892, TCC52	DDB1- and CUL4-associated factor 12	DCAF12	25853	ENSG00000198876			Dcaf12 (MGI:1916220)
chr9	34179005	34252523	9p22-p21	9p13.3	609787	UBAP1, UBAP, SPG80	Ubiquitin-associated protein 1	UBAP1	51271	ENSG00000165006		Spastic paraplegia 80, autosomal dominant, 618418 (3), Autosomal dominant	Ubap1 (MGI:2149543)
chr9	34252380	34333671	9p13.3	9p13.3	613747	KIF24	Kinesin family member 24	KIF24	347240	ENSG00000186638			Kif24 (MGI:1918345)
chr9	34329569	34343699	9p13	9p13.3	602852	NUDT2, APAH1, IDDPN	Nudix hydrolase 2	NUDT2	318	ENSG00000164978		Intellectual developmental disorder with or without peripheral neuropathy, 619844 (3), Autosomal recessive	Nudt2 (MGI:1913651)
chr9	34366666	34376898	9p13.3	9p13.3	618255	MYORG, NET37, KIAA1161, IBGC7	Myogenesis-regulating glycosidase	MYORG	57462	ENSG00000164976		Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 (3), Autosomal recessive	Myorg (MGI:2140300)
chr9	34379019	34397810	9p13.3	9p13.3	619502	C9orf24, CBE1	Chromosome 9 open reading frame 24	SPMIP6	84688	ENSG00000164972			Spmip6 (MGI:1920971)
chr9	34458805	34520984	9p13.3	9p13.3	604366	DNAI1, CILD1, ICS, PCD	Dynein, axonemal, intermediate chain 1	DNAI1	27019	ENSG00000122735		Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3), Autosomal recessive	Dnai1 (MGI:1916172)
chr9	34521043	34522990	9p13.3	9p13.3	618556	ENHO	Energy homeostasis-associated protein	ENHO	375704	ENSG00000168913			Enho (MGI:1916888)
chr9	34551433	34590852	9p13	9p13.3	118946	CNTFR	Ciliary neurotrophic factor receptor	CNTFR	1271	ENSG00000122756			Cntfr (MGI:99605)
chr9	34613546	34620495	9p13	9p13.3	607387	DCTN3, DCTN22	Dynactin 3	DCTN3	11258	ENSG00000137100			Dctn3 (MGI:1859251)
chr9	34621049	34633011	9p13.3	9p13.3	620868	ARID3C	AT-rich interaction domain-containing protein 3C	ARID3C	138715	ENSG00000205143			Arid3c (MGI:3650624)
chr9	34634722	34637787	9p13	9p13.3	601978	SIGMAR1, SRBP, ALS16, HMNR2	Sigma nonopioid intracellular receptor 1	SIGMAR1	10280	ENSG00000147955	mutation identified in 1 ALS16 family and 1 HMNR2 family	?Neuronopathy, distal hereditary motor, autosomal recessive 2, 605726 (3), Autosomal recessive; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3), Autosomal recessive	Sigmar1 (MGI:1195268)
chr9	34646675	34651035	9p13	9p13.3	606999	GALT	Galactose-1-phosphate uridyltransferase	GALT	2592	ENSG00000213930		Galactosemia, 230400 (3), Autosomal recessive	Galt (MGI:95638)
chr9	34652185	34661902	9p13	9p13.3	600939	IL11RA, CRSDA	Interleukin-11 receptor, alpha	IL11RA	3590	ENSG00000137070		Craniosynostosis and dental anomalies, 614188 (3), Autosomal recessive	Il11ra1,Il11ra2,Il11ra3 (MGI:107426,MGI:109123,MGI:3801997)
chr9	34661890	34662657	9p13	9p13.3	604833	CCL27, SCYA27, ILC, CTACK	Chemokine, C-C motif, ligand 27	CCL27	10850	ENSG00000213927			Ccl27a,Ccl27al,Ccl27b (MGI:1343459,MGI:1891389,MGI:3713752)
chr9	34665607	34982544	9p13.3	9p13.3	619928	PHF24, GINIP, KIAA1045	PHD finger protein 24	PHF24	23349	ENSG00000122733			Phf24 (MGI:2140712)
chr9	34689570	34691276	9p13	9p13.3	602227	CCL19, SCYA19, ELC, MIP3B	Chemokine, C-C motif, ligand 19	CCL19	6363	ENSG00000172724			Ccl19,Ccl19-ps1,Ccl19-ps3,Ccl19-ps4,Ccl19-ps5,Ccl19-ps6 (MGI:1346316,MGI:1891387,MGI:1891391,MGI:3693096,MGI:3708691,MGI:5434459)
chr9	34709005	34710136	9p13	9p13.3	602737	CCL21, SCYA21, SLC	Chemokine, C-C motif, ligand 21	CCL21	6366	ENSG00000137077			Ccl21a,Ccl21b,Ccl21d,Ccl21e,Ccl21f (MGI:1349182,MGI:1349183,MGI:3710514,MGI:3711256,MGI:5434896)
chr9	34989745	34998900	9p13.3	9p13.3	611328	DNAJB5, KIAA1045, HSC40	DNAJ/HSP40 homolog, subfamily B, member 5	DNAJB5	25822	ENSG00000137094			Dnajb5 (MGI:1930018)
chr9	35056064	35072625	9p13-p12	9p13.3	601023	VCP, IBMPFD1, CMT2Y, FTDALS6	Valosin-containing protein	VCP	7415	ENSG00000165280		Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, 613954 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2Y, 616687 (3), Autosomal dominant; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3), Autosomal dominant	Vcp (MGI:99919)
chr9	35073839	35079942	9p13	9p13.3	602956	XRCC9, FANCG	X-ray repair cross complementing 9 (FA complementation group G)	FANCG	2189	ENSG00000221829		Fanconi anemia, complementation group G, 614082 (3), Autosomal recessive	Fancg (MGI:1926471)
chr9	35088688	35096591	9p13	9p13.3	614730	PIGO, HPMRS2	Phosphatidylinositol glycan, class O	PIGO	84720	ENSG00000165282		Hyperphosphatasia with impaired intellectual development syndrome 2, 614749 (3), Autosomal recessive	Pigo (MGI:1861452)
chr9	35099776	35103195	9p13.1	9p13.3	608292	STOML2	Stomatin-like protein 2	STOML2	30968	ENSG00000165283			Stoml2 (MGI:1913842)
chr9	35104117	35116380	9p13.3	9p13.3	620169	ATOSB, KIAA1539	ATOS homolog B	ATOSB	80256	ENSG00000005238			Atosb (MGI:2441854)
chr9	35162009	35405335	9p13.3	9p13.3	605836	UNC13B, UNC13, MUNC13	unc-13 homolog B	UNC13B	10497	ENSG00000198722			Unc13b (MGI:1342278)
chr9	35490111	35561895	9p13.1	9p13.3	611053	RUSC2, KIAA0375, IPORIN, MRT61	RUN and SH3 domain-containing 2	RUSC2	9853	ENSG00000198853		Intellectual developmental disorder, autosomal recessive 61, 617773 (3), Autosomal recessive	Rusc2 (MGI:2140371)
chr9	35605262	35610033	9p13	9p13.3	601782	TESK1	Testis-associated actin-modeling kinase 1	TESK1	7016	ENSG00000107140			Tesk1 (MGI:1201675)
chr9	35609982	35646857	9p	9p13.3	107272	CD72, LYB2	CD72 antigen	CD72	971	ENSG00000137101			Cd72 (MGI:88345)
chr9	35649295	35650931	9p13-p12	9p13.3	604964	SIT	SHP2-interacting transmembrane adaptor protein	SIT1	27240	ENSG00000137078			Sit1 (MGI:1889342)
chr9	35657750	35658019	9p21-p12	9p13.3	157660	RMRP, RMRPR, CHH	Mitochondrial RNA-processing endoribonuclease	RMRP	6023	ENSG00000277027		Anauxetic dysplasia 1, 607095 (3), Autosomal recessive; Metaphyseal dysplasia without hypotrichosis, 250460 (3), Autosomal recessive; Cartilage-hair hypoplasia, 250250 (3), Autosomal recessive	Rmrp (MGI:97937)
chr9	35673928	35681159	9p13.3	9p13.3	603179	CA9, MN	Carbonic anhydrase IX	CA9	768	ENSG00000107159	previously assigned to 17q21.2		Car9 (MGI:2447188)
chr9	35681993	35690056	9p13.2-p13.1	9p13.3	190990	TPM2, TMSB, AMCD1, DA1, DA2B4, CMYO23	Tropomyosin-2, beta	TPM2	7169	ENSG00000198467		Arthrogryposis, distal, type 2B4, 108120 (3), Autosomal dominant; Arthrogryposis, distal, type 1A, 108120 (3), Autosomal dominant; Congenital myopathy 23, 609285 (3), Autosomal dominant	Tpm2 (MGI:98810)
chr9	35696948	35732195	9p	9p13.3	186745	TLN1	Talin 1	TLN1	7094	ENSG00000137076			Tln1 (MGI:1099832)
chr9	35732666	35736999	9p13.3	9p13.3	606443	CREB3, LZIP	cAMP response element-binding protein 3	CREB3	10488	ENSG00000107175			Creb3 (MGI:99946)
chr9	35736866	35749228	9p13.3	9p13.3	609471	GBA2, KIAA1605, SPG46	Glucosidase, beta, acid 2	GBA2	57704	ENSG00000070610		Spastic paraplegia 46, autosomal recessive, 614409 (3), Autosomal recessive	Gba2 (MGI:2654325)
chr9	35749287	35790428	9p13.3	9p13.3	615742	RGP1, KIAA0258	RGP1 homolog, RAB6A GEF complex partner 1	RGP1	9827	ENSG00000107185			Rgp1 (MGI:1915956)
chr9	35752990	35754276	9p13.3	9p13.3	612191	MSMP, PSMP	Microseminoprotein, prostate-associated	MSMP	692094	ENSG00000215183			Msmp (MGI:3652339)
chr9	35791591	35809731	9p21-p12	9p13.3	108961	NPR2, ANPRB, AMD1, ECDM, SNSK	Natiuretic peptide receptor 2	NPR2	4882	ENSG00000159899		Epiphyseal chondrodysplasia, Miura type, 615923 (3), Autosomal dominant; Short stature with nonspecific skeletal abnormalities, 616255 (3), Autosomal dominant; Acromesomelic dysplasia 1, Maroteaux type, 602875 (3), Autosomal recessive	Npr2 (MGI:97372)
chr9	35807785	35812262	9p13-p12	9p13.3	605731	SPAG8, SMP1	Sperm-associated antigen 8	SPAG8	26206	ENSG00000137098			Spag8 (MGI:3056295)
chr9	35812960	35815479	9p11.2	9p13.3	609997	HINT2	Histidine triad nucleotide-binding protein 2	HINT2	84681	ENSG00000137133			Hint2 (MGI:1916167)
chr9	35829228	35865515	9p13.3	9p13.3	616888	TMEM8B, NGX6, NAG5	Transmembrane protein 8B	TMEM8B	51754	ENSG00000137103			Tmem8b (MGI:2441680)
chr9	35909490	35911686	9p13.3	9p13.3	617627	SPAAR, LINC00961	Small regulatory polypeptide of amino acid response	SPAAR	158376	ENSG00000235387			Spaar (MGI:1918656)
chr9	36036913	36124455	9p13-p12	9p13.3	605227	RECK, ST15	Reversion-inducing cysteine-rich protein with kazal motifs (suppressor of tumorigenicity 15)	RECK	8434	ENSG00000122707			Reck (MGI:1855698)
chr9	36136536	36163913	9p13.3	9p13.3	607141	GLIPR2, GAPR1, C9orf19	GLI pathogenesis-related 2	GLIPR2	152007	ENSG00000122694			Glipr2 (MGI:1917770)
chr9	36169388	36171334	9p13.3	9p13.3	603960	CCIN, SPGF91	Calicin	CCIN	881	ENSG00000185972		Spermatogenic failure 91, 620838 (3), Autosomal recessive	Ccin (MGI:3045316)
chr9	36190874	36212059	9p13.3	9p13.3	118960	CLTA	Clathrin, light polypeptide (Lca)	CLTA	1211	ENSG00000122705	previously mapped to 12q23-q24		Clta (MGI:894297)
chr9	36214441	36276978	9p13.3	9p13.3	603824	GNE, GLCNE, IBM2, DMRV, NM, THC12	UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	GNE	10020	ENSG00000159921		Sialuria, 269921 (3), Autosomal dominant; Thrombocytopenia 12 with or without myopathy, 620757 (3), Autosomal recessive; Nonaka myopathy, 605820 (3), Autosomal recessive	Gne (MGI:1354951)
chr9	36336400	36487669	9p13	9p13.2	612488	RNF38	RING finger protein 38	RNF38	152006	ENSG00000137075			Rnf38 (MGI:1920719)
chr9	36572895	36677682	Chr.9	9p13.2	607025	MELK, KIAA0175	Maternal embryonic leucine zipper kinase	MELK	9833	ENSG00000165304			Melk (MGI:106924)
chr9	36833269	37034268	9p13	9p13.2	167414	PAX5, BSAP, ALL3	Paired box homeotic gene-5 (B-cell lineage specific activator protein)	PAX5	5079	ENSG00000196092		{Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)	Pax5 (MGI:97489)
chr9	37422435	37439494	9cen	9p13.2	604296	GRHPR, GLXR	Glyoxylate reductase/hydroxypyruvate reductase	GRHPR	9380	ENSG00000137106		Hyperoxaluria, primary, type II, 260000 (3), Autosomal recessive	Grhpr (MGI:1923488)
chr9	37438102	37465450	9p13.2	9p13.2	616590	ZBTB5, KIAA0354	Zinc finger- and BTB domain-containing protein 5	ZBTB5	9925	ENSG00000168795			Zbtb5 (MGI:1924601)
chr9	37485948	37503697	9p13.2	9p13.2	621031	POLR1E, PAF53	Polymerase I, RNA, subunit E	POLR1E	64425	ENSG00000137054			Polr1e (MGI:1929022)
chr9	37510892	37576380	9p13.1	9p13.2	609092	FBXO10, FBX10	F-box only protein 10	FBXO10	26267	ENSG00000147912			Fbxo10 (MGI:2686937)
chr9	37588413	37592597	9p13.2	9p13.2	616169	TOMM5, TOM5	Translocase of outer mitochondrial membrane 5	TOMM5	401505	ENSG00000175768			Tomm5 (MGI:1915762)
chr9	37603229	37746904	9p13.2	9p13.2	616919	FRMPD1, FRMD2, KIAA0967	FERM and PDZ domains-containing protein 1	FRMPD1	22844	ENSG00000070601			Frmpd1 (MGI:2446274)
chr9	37752901	37778972	9p13.2	9p13.2	620957	TRMT10B	tRNA methyltransferase 10B	TRMT10B	158234	ENSG00000165275			Trmt10b (MGI:1917184)
chr9	37779714	37785092	9p13.2	9p13.2	606489	EXOSC3, RRP40, PCH1B	Exosome component 3	EXOSC3	51010	ENSG00000107371		Pontocerebellar hypoplasia, type 1B, 614678 (3), Autosomal recessive	Exosc3 (MGI:1913612)
chr9	37800554	37867664	9p13.2	9p13.2	620295	DCAF10	DDB1- and CUL4-associated factor 10	DCAF10	79269	ENSG00000122741			Dcaf10 (MGI:2140179)
chr9	37877575	37904127	9p13.3-p13.1	9p13.2-p13.1	619153	SLC25A51, MCART1	Solute carrier family 25 (mitochondrial carrier, NAD+ transporter), member 51	SLC25A51	92014	ENSG00000122696			Slc25a51 (MGI:2684984)
chr9	37900001	69300000	9p13.1-q21.11		612096	OTSC8	Otosclerosis 8		100151644		between D9S970 and D9S1799	Otosclerosis 8, 612096 (2), Autosomal dominant	
chr9	37915898	38069227	9p12-p11	9p13.1	600314	SHB	SHB adaptor protein (a Src homology 2 protein)	SHB	6461	ENSG00000107338			Shb (MGI:98294)
chr9	38392702	38398661	9p13	9p13.1	100670	ALDH1B1, ALDH5	Aldehyde dehydrogenase 1 family, member B1	ALDH1B1	219	ENSG00000137124			Aldh1b1 (MGI:1919785)
chr9	38406528	38424454	9p13.1	9p13.1	610413	IGFBPL1, IGFBPRP4	Insulin-like growth factor binding protein-like 1	IGFBPL1	347252	ENSG00000137142			Igfbpl1 (MGI:1933198)
chr9	38566151	38620596	9p13.1	9p13.1	620259	ANKRD18A	Ankyrin repeat domain-containing protein 18A	ANKRD18A	253650	ENSG00000180071			
chr9	39000001	61500000	9p12-q12		605388	ACP	Cerebral palsy, ataxic, autosomal recessive		60502			Cerebral palsy, ataxic, autosomal recessive, 605388 (2), Autosomal recessive	
chr9	39064710	39288167	9p13.1	9p12	610517	CNTNAP3, KIAA1714	Contactin-associated protein-like 3	CNTNAP3	79937	ENSG00000106714			Cntnap3 (MGI:3588199)
chr9	40000001	43000000	9p11		155900	MROS	Melkersson-Rosenthal syndrome		8011			?Melkersson-Rosenthal syndrome, 155900 (2), Autosomal dominant	
chr9	43000001	138394717	9q		609320	HCHGQ2	Hematocrit/hemoglobin quantitative trait locus 2		100381205			[Hematocrit/hemoglobin quantitative trait locus 2], 609320 (2)	
chr9	43000001	138394717	9q		607152	SPG19	Spastic paraplegia-19		140907			Spastic paraplegia 19, autosomal dominant, 607152 (2), Autosomal dominant	
chr9	45500001	61500000	9q12		126330	DNCM	Cytoplasmic membrane DNA		1784		in 9qh		
chr9	61190036	61196280	9q12	9q12	616584	SPATA31A7, AEP1, FAM75A7, C9orf36	Spermatogenesis-associated protein 31, subfamily A, member 7	SPATA31A7	26165	ENSG00000276040			Spata31 (MGI:1925374)
chr9	61500001	65000000	9q13		600884	CMD1B, CMPD1, FDC	Cardiomyopathy, dilated-1B, autosomal dominant		1218			Cardiomyopathy, dilated 1B, 600884 (2), Autosomal dominant	
chr9	61500001	99800000	9q13-q22		605749	CTRCT26, CAAR	Cataract 26, multiple types		81863			Cataract 26, multiple types, 605749 (2)	
chr9	61500001	87800000	9q13-q21		190100	GSM1, GSP	Geniospasm 1		2933			Geniospasm, 190100 (2), Autosomal dominant	
chr9	65000001	69300000	9q21.11		613558	DFNA51, C9DUPq21.11, DUP9q21.11	Deafness, autosomal dominant 51 (chromosome 9q21.11 duplication syndrome)				259kb duplication involving TJP2 and FAM189A2	Deafness, autosomal dominant 51, 613558 (4), Autosomal dominant	
chr9	65000001	99800000	9q21-q22		611631	ETL4, ETOLM	Epilepsy, familial temporal lobe, 4		100144434		between GATA152H04 and D9S253	Epilepsy, familial temporal lobe, 4, 611631 (2), Autosomal dominant	
chr9	65000001	87800000	9q21		613088	PVOP2	Pelvic organ prolapse, susceptibility to, 2		100312955		between rs4077632 and rs10868525	{Pelvic organ prolapse, susceptibility to, 2}, 613088 (2)	
chr9	65737146	65738396	9p11.2	9q21.11	611085	FOXD4L4, FOXD4L2	Forkhead box D4-like 4	FOXD4L4	349334	ENSG00000184659			Foxd4 (MGI:1347467)
chr9	66900725	66932141	9q21.11	9q21.11	616290	ZNF658	Zinc finger protein 658	ZNF658	26149	ENSG00000274349			Zfp616,Zfp658,Zfp735 (MGI:1923640,MGI:3648947,MGI:3650906)
chr9	68241983	68300035	9q13	9q21.11	611080	CBWD3	Cobalamin synthetase W domain-containing protein 3	ZNG1C	445571	ENSG00000196873			Zng1 (MGI:2385089)
chr9	68302867	68305084	9q13	9q21.11	611086	FOXD4L3	Forkhead box D4-like 3	FOXD4L3	286380	ENSG00000187559			Foxd4 (MGI:1347467)
chr9	68356611	68531061	9p12-q12	9q21.11	600981	PGM5	Phosphoglucomutase-5	PGM5	5239	ENSG00000154330			Pgm5 (MGI:1925668)
chr9	68705240	69009176	9q13	9q21.11	602745	PIP5K1B, STM7, MSS4	Phosphatidylinositol-4-phosphate 5-kinase, type I, beta	PIP5K1B	8395	ENSG00000107242			Pip5k1b (MGI:107930)
chr9	68780065	68785566	9q21.1	9q21.11	617249	FAM122A, C9orf42	Family with sequence similarity 122, member A	PABIR1	116224	ENSG00000187866			Pabir1 (MGI:1915284)
chr9	69012504	69014113	9q21.11	9q21.11	176893	PRKACG, BDPLT19	Protein kinase, cAMP-dependent, catalytic, gamma	PRKACG	5568	ENSG00000165059	mutation identified in 1 BDPLT19 family	?Bleeding disorder, platelet-type, 19, 616176 (3), Autosomal recessive	
chr9	69035752	69079076	9q13	9q21.11	606829	FXN, FRDA, FARR, X25	Frataxin	FXN	2395	ENSG00000165060		Friedreich ataxia with retained reflexes, 229300 (3), Autosomal recessive; Friedreich ataxia, 229300 (3), Autosomal recessive	Fxn (MGI:1096879)
chr9	69121264	69255208	9q12-q13	9q21.11	607709	TJP2, ZO2, PFIC4, FHCA1	Tight junction protein 2	TJP2	9414	ENSG00000119139		Hypercholanemia, familial 1, 607748 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic 4, 615878 (3), Autosomal recessive	Tjp2 (MGI:1341872)
chr9	69296681	69307056	9q21.11-q21.12	9q21.11-q21.12	619589	BANCR	BRAF-activated noncoding RNA	BANCR	100885775	ENSG00000278910			
chr9	69324567	69392456	9q21.12	9q21.12	607710	ENTREP1, FAM189A2, X123, C9orf61	Endosomal transmembrane epsin interactor 1	ENTREP1	9413	ENSG00000135063			Entrep1 (MGI:2685813)
chr9	69427532	69673013	9q21.11-q21.12	9q21.12	602414	APBA1, X11, D9S411E, MINT1, LIN10	Amyloid beta A4 precursor protein-binding, family A, member 1	APBA1	320	ENSG00000107282			Apba1 (MGI:1860297)
chr9	69709525	69760011	9q21.12	9q21.12	621024	PTAR1	Protein prenyltransferase alpha subunit repeat-containing protein 1	PTAR1	375743	ENSG00000188647			Ptar1 (MGI:1921875)
chr9	70043581	70226972	9q21.11	9q21.12	612879	MAMDC2	MAM domain-containing 2	MAMDC2	256691	ENSG00000165072			Mamdc2 (MGI:1918988)
chr9	70258978	70354873	9q21.11	9q21.12	609386	SMC5, SMC5L1, KIAA0594, ATELS2	Structural maintenance of chromosomes 5	SMC5	23137	ENSG00000198887		Atelis syndrome 2, 620185 (3), Autosomal recessive	Smc5 (MGI:2385088)
chr9	70384604	70414657	9q13	9q21.12	602902	BTEB1, BTEB	Basic transcription element-binding protein 1	KLF9	687	ENSG00000119138			Klf9 (MGI:1333856)
chr9	70529060	71446971	9q21.12	9q21.12-q21.13	608961	TRPM3, MLSN2, LTRPC3, KIAA1616, NEDFSS, CTRCT50	Transient receptor potential cation channel, subfamily M, member 3	TRPM3	80036	ENSG00000083067	mutation identified in 1 CTRCT50 family	?Cataract 50 with or without glaucoma, 620253 (3), Autosomal dominant; Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, 620224 (3), Autosomal dominant	Trpm3 (MGI:2443101)
chr9	70809975	70810084	9q21.11	9q21.12	610942	MIR204, MIRN204, RDICC	Micro RNA 204	MIR204	406987	ENSG00000207935		Retinal dystrophy and iris coloboma with or without cataract, 616722 (3), Autosomal dominant	Mir204 (MGI:2676879)
chr9	71683366	71769466	9q21.13	9q21.13	605835	CEMIP2, TMEM2	Cell migration-inducing hyaluronidase 2	CEMIP2	23670	ENSG00000135048			Cemip2 (MGI:1890373)
chr9	71862452	71911193	9q21.13	9q21.13	617943	ABHD17B, FAM108B1	Abhydrolase domain-containing protein 17B, depalmitoylase	ABHD17B	51104	ENSG00000107362			Abhd17b (MGI:1917816)
chr9	71911639	71986058	9q21.13	9q21.13	620761	C9orf85	Chromosome 9 open reading frame 85	C9orf85	138241	ENSG00000155621			1110059E24Rik (MGI:1913456)
chr9	72114608	72259869	9q21.13	9q21.13	139260	GDA, CYPIN	Guanine deaminase	GDA	9615	ENSG00000119125			Gda (MGI:95678)
chr9	72351413	72365208	9q13-q21	9q21.13	604761	ZFAND5, ZNF216	Zinc finger AN1 domain-containing protein 5	ZFAND5	7763	ENSG00000107372			Zfand5 (MGI:1278334)
chr9	72521608	72838297	9q13-q21	9q21.13	606706	TMC1, DFNB7, DFNB11, DFNA36	Transmembrane channel-like protein 1	TMC1	117531	ENSG00000165091		Deafness, autosomal dominant 36, 606705 (3), Autosomal dominant; Deafness, autosomal recessive 7, 600974 (3), Autosomal recessive	Tmc1 (MGI:2151016)
chr9	72900671	72953053	9q21	9q21.13	100640	ALDH1A1	Aldehyde dehydrogenase-1 family, member A1, soluble	ALDH1A1	216	ENSG00000165092			Aldh1a1,Aldh1a7 (MGI:1347050,MGI:1353450)
chr9	73151865	73170393	9q11-q22	9q21.13	151690	ANXA1, LPC1	Annexin A1 (lipocortin I)	ANXA1	301	ENSG00000135046			Anxa1 (MGI:96819)
chr9	74497335	74693177	9q22	9q21.13	601972	RORB, RZRB, EIG15	RAR-related orphan receptor B	RORB	6096	ENSG00000198963		{Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 (3), Autosomal dominant	Rorb (MGI:1343464)
chr9	74722495	74887921	9q22	9q21.13	607009	TRPM6, CHAK2, HOMG1	Transient receptor potential cation channel, subfamily M, member 6	TRPM6	140803	ENSG00000119121		Hypomagnesemia 1, intestinal, 602014 (3), Autosomal recessive	Trpm6 (MGI:2675603)
chr9	74980790	75028430	9q21.13	9q21.13	616552	CARNMT1, C9orf41, UPF0586	Carnosine N-methyltransferase 1	CARNMT1	138199	ENSG00000156017			Carnmt1 (MGI:1914633)
chr9	75060577	75088155	9q21.13	9q21.13	608704	NMRK1, C9orf95	Nicotinamide riboside kinase 1	NMRK1	54981	ENSG00000106733			Nmrk1 (MGI:2147434)
chr9	75088514	75147265	9q21.13	9q21.13	610180	OSTF1, OSF, SH3P2	Osteoclast-stimulating factor 1	OSTF1	26578	ENSG00000134996			Ostf1 (MGI:700012)
chr9	75889809	76362975	9q21.3	9q21.13	600488	PCSK5	Proprotein convertase subtilisin/kexin type 5	PCSK5	5125	ENSG00000099139	?close to LPC1 on 9q		Pcsk5 (MGI:97515)
chr9	76385526	76394426	9q21.1	9q21.13	613010	RFK	Riboflavin kinase	RFK	55312	ENSG00000135002			Rfk (MGI:1914688)
chr9	76393869	76507416	9q13	9q21.13	600391	GCNT1	Glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)	GCNT1	2650	ENSG00000187210			Gcnt1 (MGI:95676)
chr9	76611376	76906114	9p13	9q21.2	610691	PRUNE2, BMCC1, KIAA0367	PRUNE homolog 2 with BCH domain	PRUNE2	158471	ENSG00000106772			Prune2 (MGI:1925004)
chr9	76764436	76787569	9q21-q22	9q21.2	604845	PCA3, DD3	Prostate cancer antigen 3	PCA3	50652	ENSG00000225937			
chr9	77019655	77020953	9q21.2	9q21.2	619962	FOXB2, FKH4	Forkhead box B2	FOXB2	442425	ENSG00000204612			Foxb2 (MGI:1347468)
chr9	77177534	77421537	9q21	9q21.2	605978	VPS13A, CHAC	Vacuolar protein sorting 13 homolog A (chorein)	VPS13A	23230	ENSG00000197969		Choreoacanthocytosis, 200150 (3), Autosomal recessive	Vps13a (MGI:2444304)
chr9	77423079	77648322	9q21	9q21.2	604397	GNA14	Guanine nucleotide-binding protein, alpha-14	GNA14	9630	ENSG00000156049			Gna14 (MGI:95769)
chr9	77716097	78031811	9q21	9q21.2	600998	GNAQ, SWS, CMC1	Guanine nucleotide-binding protein (G protein), q	GNAQ	2776	ENSG00000156052	pseudogene on 2q	Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3); Sturge-Weber syndrome, somatic, mosaic, 185300 (3)	Gnaq (MGI:95776)
chr9	78236075	78279690	9q21.2	9q21.2	617110	CEP78, CRDHL	Centrosomal protein, 78kD	CEP78	84131	ENSG00000148019		Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive	Cep78 (MGI:1924386)
chr9	78297125	78330093	9q21.31	9q21.2	610936	PSAT1, PSAT, EPIP, PSATD, NLS2	Phosphoserine aminotransferase 1	PSAT1	29968	ENSG00000135069		Neu-Laxova syndrome 2, 616038 (3), Autosomal recessive; Phosphoserine aminotransferase deficiency, 610992 (3), Autosomal recessive	Psat1 (MGI:2183441)
chr9	78500001	99800000	9q21.3-q22		267700	FHL1, HPLH1, HLH1	Hemophagocytic lymphohistiocytosis, familial, 1		27259			Hemophagocytic lymphohistiocytosis, familial, 1, 267700 (2), Autosomal recessive	
chr9	79571965	79726882	9q21.31	9q21.31	605132	TLE4, ESG4, GRG4	TLE family member 4, transcriptional corepressor	TLE4	7091	ENSG00000106829			Tle4 (MGI:104633)
chr9	81583683	81689547	9q21.32	9q21.32	600189	TLE1, ESG1, GRG1	TLE family member 1, transcriptional corepressor	TLE1	7088	ENSG00000196781	conflicting assignment to chr.19		Tle1 (MGI:104636)
chr9	82979590	83219224	9q21.32	9q21.32	611344	RASEF	RAS and EF-hand domains-containing protein	RASEF	158158	ENSG00000165105			Rasef (MGI:2448565)
chr9	83242992	83585794	9q21-q22	9q21.32	607619	FRMD3, EPB41LO	FERM domain-containing 3	FRMD3	257019	ENSG00000172159			Frmd3 (MGI:2442466)
chr9	83623006	83644123	9q21.32	9q21.32	611343	IDNK, C9orf103	IDNK gluconokinase	IDNK	414328	ENSG00000148057			Idnk (MGI:1922981)
chr9	83659968	83707958	9q21.2-q21.3	9q21.32	605046	UBQLN1, DA41	Ubiquilin 1 (Da41, rat, homolog of)	UBQLN1	29979	ENSG00000135018			Ubqln1 (MGI:1860276)
chr9	83739425	83817769	9q21.32	9q21.32	611356	GKAP1, GKAP42	G kinase-anchoring protein 1	GKAP1	80318	ENSG00000165113			Gkap1 (MGI:1891694)
chr9	83834099	83921432	9q21.32	9q21.32	611253	KIF27	Kinesin family member 27	KIF27	55582	ENSG00000165115			Kif27 (MGI:1922300)
chr9	83938311	83956986	9q21.32	9q21.32	611342	C9orf64	Chromosome 9 open reading frame 64	QNG1	84267	ENSG00000165118			Qng1 (MGI:1917403)
chr9	83968083	83980615	9q21.32-q21.33	9q21.32	600712	HNRNPK, HNRPK, AUKS	Heterogeneous nuclear ribonucleoprotein K	HNRNPK	3190	ENSG00000165119		Au-Kline syndrome, 616580 (3), Autosomal dominant	Hnrnpk (MGI:99894)
chr9	83969748	83969857	9q21.32	9q21.32	615239	MIR7-1	Micro RNA 7-1	MIR7-1	407043	ENSG00000284179			Mir7-1 (MGI:3619436)
chr9	83980359	84004074	9q21.32	9q21.32	610404	RMI1, BLAP75, C9orf76	RecQ-mediated genome instability 1 protein	RMI1	80010	ENSG00000178966			Rmi1 (MGI:1921636)
chr9	84275457	84368727	9q22.2	9q21.32-q21.33	608269	SLC28A3, CNT3	Solute carrier family (sodium-coupled nucleoside transporter), member 3	SLC28A3	64078	ENSG00000197506			Slc28a3 (MGI:2137361)
chr9	84668522	85027054	9q21.33	9q21.33	600456	NTRK2, TRKB, OBHD, DEE58	Neurotrophic tyrosine kinase, receptor, type 2	NTRK2	4915	ENSG00000148053		Developmental and epileptic encephalopathy 58, 617830 (3), Autosomal dominant; Obesity, hyperphagia, and developmental delay, 613886 (3), Autosomal dominant	Ntrk2 (MGI:97384)
chr9	85546539	85805483	9q21.33	9q21.33	606830	AGTPBP1, NNA1, KIAA1035, CCP1, CONDCA	ATP/GTP-binding protein 1	AGTPBP1	23287	ENSG00000135049		Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3), Autosomal recessive	Agtpbp1 (MGI:2159437)
chr9	85941146	86025462	9q21.33	9q21.33	619438	NAA35, MAK10	N-alpha-acetyltransferase 35, NatC auxiliary subunit	NAA35	60560	ENSG00000135040			Naa35 (MGI:1925939)
chr9	86026146	86100149	9q21.33	9q21.33	606804	GOLM1, GOLPH2, GP73, C9orf155	Golgi membrane protein 1	GOLM1	51280	ENSG00000135052			Golm1 (MGI:1917329)
chr9	86264546	86282538	9q21.2-q22.1	9q21.33	611006	ISCA1, HBLD2, HISCA, MMDS5	Iron-sulfur cluster assembly 1	ISCA1	81689	ENSG00000135070		Multiple mitochondrial dysfunctions syndrome 5, 617613 (3), Autosomal recessive	AK157302,Isca1 (MGI:1916296,MGI:3574096)
chr9	86287733	86354410	9q21.33	9q21.33	613467	TUT6, ZCCHC6, KIAA1711	Terminal uridylyl transferase 7	TUT7	79670	ENSG00000083223			Tut7 (MGI:2387179)
chr9	86944362	86947506	9q21.3-q22.1	9q21.33	139185	GAS1	Growth arrest-specific gene-1	GAS1	2619	ENSG00000180447			Gas1 (MGI:95655)
chr9	87497228	87708634	9q34.1	9q21.33	600831	DAPK1	Death-associated protein kinase-1	DAPK1	1612	ENSG00000196730			Dapk1 (MGI:1916885)
chr9	87726119	87731469	9q21-q22	9q21.33	116880	CTSL	Cathepsin L	CTSL	1514	ENSG00000135047	\'like\' sequence on 10q23-q24		Ctsl (MGI:88564)
chr9	87800001	99800000	9q22		608695	JOAG2	Glaucoma, primary open angle, juvenile-onset, 2		574078		between D9S1803 and D9S196	Glaucoma, primary open angle, juvenile-onset, 2, 608695 (2)	
chr9	87800001	99800000	9q22		610114	STQTL8	Stature quantitative trait locus 8		100037266		between GATA81C04M and ATA18A07M	{Stature QTL 8}, 610114 (2)	
chr9	87966441	87974533	9q22.1	9q22.1	610076	CDK20, CCRK, CDCH, P42	Cyclin-dependent kinase 20	CDK20	23552	ENSG00000156345			Cdk20 (MGI:2145349)
chr9	88388444	88478694	9q22.1-q22.3	9q22.1	609936	SPIN, SPIN1	Spindlin	SPIN1	10927	ENSG00000106723			Spin1 (MGI:109242)
chr9	88535178	88584510	9q22.1	9q22.1	615299	NXNL2, RDCVF2	Nucleoredoxin-like protein 2	NXNL2	158046	ENSG00000130045			Nxnl2 (MGI:1922374)
chr9	88990863	89005155	9q22.1-q22.2	9q22.1	601965	S1PR3, EDG3	Sphingosine-1-phosphate receptor 3	S1PR3	1903	ENSG00000213694			S1pr3 (MGI:1339365)
chr9	89005771	89178818	9q22.1	9q22.1	605263	SHC3, NSHC, RAI, SHCC	SHC transforming protein 3	SHC3	53358	ENSG00000148082			Shc3 (MGI:106179)
chr9	89311195	89316703	9q22.2	9q22.2	116901	CKS2	CDC2-associated protein CKS2	CKS2	1164	ENSG00000123975			Cks2 (MGI:1913447)
chr9	89318500	89367117	9q22.2	9q22.2	607693	SECISBP2, SBP2, THMA1	Selenocysteine insertion sequence-binding protein 2	SECISBP2	79048	ENSG00000187742		Thyroid hormone metabolism, abnormal, 1, 609698 (3), Autosomal recessive	Secisbp2 (MGI:1922670)
chr9	89360787	89498113	9q22.2	9q22.2	601866	SEMA4D, SEMAJ, CD100, COLL4	Semaphorin 4D	SEMA4D	10507	ENSG00000187764			Sema4d (MGI:109244)
chr9	89605012	89606555	9q22.1-q22.2	9q22.2	604949	GADD45G, GRP17	Growth arrest- and DNA damage-inducible gene 45, gamma	GADD45G	10912	ENSG00000130222			Gadd45g (MGI:1346325)
chr9	90609832	90642824	9q22.2	9q22.2	607863	DIRAS2	DIRAS family, GTP-binding Ras-like protein 2	DIRAS2	54769	ENSG00000165023			Diras2 (MGI:1915453)
chr9	90801600	90898549	9q22	9q22.2	600085	SYK, IMD82	Protein-tyrosine kinase SYK	SYK	6850	ENSG00000165025		Immunodeficiency 82 with systemic inflammation, 619381 (3), Autosomal dominant	Syk (MGI:99515)
chr9	91213823	91361918	9q22.31	9q22.31	600529	AUH	AU-specific RNA-binding protein (3-methylglutaconyl-CoA hydratase)	AUH	549	ENSG00000148090		3-methylglutaconic aciduria, type I, 250950 (3), Autosomal recessive	Auh (MGI:1338011)
chr9	91409045	91483497	9q22.1-q22.3	9q22.31	605327	NFIL3, NFIL3A, E4BP4	Nuclear factor, interleukin 3-regulated	NFIL3	4783	ENSG00000165030			Nfil3 (MGI:109495)
chr9	91722601	91950228	9q22	9q22.31	602337	ROR2, BDB1, BDB, NTRKR2	Receptor tyrosine kinase-like orphan receptor 2	ROR2	4920	ENSG00000169071		Brachydactyly, type B1, 113000 (3), Autosomal dominant; Robinow syndrome, autosomal recessive, 268310 (3), Autosomal recessive	Ror2 (MGI:1347521)
chr9	92031147	92115413	9q22.1-q22.3	9q22.31	605712	SPTLC1, LBC1, SPT1, HSN1, HSAN, ALS27	Serine palmitoyltransferase, long-chain base subunit 1	SPTLC1	10558	ENSG00000090054		Amyotrophic lateral sclerosis 27, juvenile, 620285 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3), Autosomal dominant	Sptlc1 (MGI:1099431)
chr9	92210207	92293697	9q21	9q22.31	600709	IARS1, IARS, GRIDHH	Isoleucine-tRNA synthetase 1	IARS1	3376	ENSG00000196305		Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive	Iars1 (MGI:2145219)
chr9	92297358	92325350	9q22.32	9q22.31	611534	NOL8, NOP132	Nucleolar protein 8	NOL8	55035	ENSG00000198000			Nol8 (MGI:1918180)
chr9	92325468	92620529	9q22.31	9q22.31	611505	CENPP	Centromeric protein P	CENPP	401541	ENSG00000188312			Cenpp (MGI:1913586)
chr9	92383268	92404699	9q22.3	9q22.31	602383	OGN, OIF	Osteoglycin	OGN	4969	ENSG00000106809			Ogn (MGI:109278)
chr9	92412380	92424471	9q22.31	9q22.31	618926	OMD, OSAD	Osteomodulin	OMD	4958	ENSG00000127083			Omd (MGI:1350918)
chr9	92456205	92482506	9q21.3-q22	9q22.31	608135	ASPN, PLAP1, OS3	Asporin	ASPN	54829	ENSG00000106819		{Lumbar disc degeneration}, 603932 (3); {Osteoarthritis susceptibility 3}, 607850 (3), Autosomal dominant	Aspn (MGI:1913945)
chr9	92493547	92559106	9q22.3	9q22.31	603479	ECM2	Extracellular matrix protein-2	ECM2	1842	ENSG00000106823			Ecm2 (MGI:3039578)
chr9	92613183	92670131	9q22.31	9q22.31	619043	IPPK, IP5K	Inositol-pentakisphosphate 2-kinase	IPPK	64768	ENSG00000127080			Ippk (MGI:1922928)
chr9	92711363	92764833	9q22.3	9q22.31	609797	BICD2, KIAA0699, SMALED2A, SMALED2B	BICD carbo adaptor 2	BICD2	23299	ENSG00000185963		Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 (3), Autosomal dominant; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 (3), Autosomal dominant	Bicd2 (MGI:1924145)
chr9	92947523	93036233	9q22.31	9q22.31	617554	FGD3, ZFYVE5	FYVE, RhoGEF, and Ph domain-containing protein 3	FGD3	89846	ENSG00000127084			Fgd3 (MGI:1353657)
chr9	93058701	93085133	9q22.31	9q22.31	616429	SUSD3	SUSHI domain-containing protein 3	SUSD3	203328	ENSG00000157303			Susd3 (MGI:1913579)
chr9	93096217	93113283	9q22.32	9q22.31	617726	CARD19, BINCARD, C9orf89	Caspase recruitment domain-containing protein 19	CARD19	84270	ENSG00000165233			Card19 (MGI:1915730)
chr9	93121496	93134251	9q22	9q22.31	602062	NINJ1	Ninjurin	NINJ1	4814	ENSG00000131669			Ninj1 (MGI:1196617)
chr9	93184139	93320569	9q22.3	9q22.31	606249	WNK2, PRKWNK2	WNK lysine deficient protein kinase 2	WNK2	65268	ENSG00000165238			Wnk2 (MGI:1922857)
chr9	93451685	93566112	9q22.31	9q22.31	612265	FAM120A, C9orf10, KIAA0183	Family with sequence similarity 120, member A	FAM120A	23196	ENSG00000048828			Fam120a (MGI:2446163)
chr9	93576584	93679587	9q22	9q22.31	604351	PHF2	PHD finger protein-2	PHF2	5253	ENSG00000197724			Phf2 (MGI:1338034)
chr9	93951627	93955355	9q12	9q22.32	603260	BARX1	BarH-like homeobox gene 1	BARX1	56033	ENSG00000131668			Barx1 (MGI:103124)
chr9	94175957	94176036	9q22.32	9q22.32	605386	MIRLET7A1, LET7A1, MIRNLET7A1	Micro RNA Let7a1	MIRLET7A1	406881	ENSG00000199165			Mirlet7a-1 (MGI:2676793)
chr9	94176347	94176433	9q22.32	9q22.32	612146	MIRLET7F1, LET7F1, MIRNLET7F1	Micro RNA Let7f1	MIRLET7F1	406888	ENSG00000199072			Mirlet7f-1 (MGI:2676798)
chr9	94178834	94178920	9q22.32	9q22.32	612145	MIRLET7D, LET7D, MIRNLET7D	Micro RNA Let7d	MIRLET7D	406886	ENSG00000199133			Mirlet7d (MGI:2676796)
chr9	94259298	94301829	9q22.3	9q22.32	603404	ZNF169	Zinc finger protein-169	ZNF169	169841	ENSG00000175787			Zfp169 (MGI:1915161)
chr9	94374417	94461042	9q22.32	9q22.32	620348	MFSD14B	Major facilitator superfamily domain-containing protein 14B	MFSD14B	84641	ENSG00000148110			Mfsd14b (MGI:1913881)
chr9	94558720	94593824	9q22.32	9q22.32	603027	FBP2, CORLK	Fructose-1,6-bisphosphatase 2	FBP2	8789	ENSG00000130957	mutation identified in 1 CORLK family	?Leukodystrophy, childhood-onset, remitting, 619864 (3), Autosomal dominant	Fbp2 (MGI:95491)
chr9	94603133	94640263	9q22.2-q22.3	9q22.32	611570	FBP1	Fructose-bisphosphatase 1	FBP1	2203	ENSG00000165140		Fructose-1,6-bisphosphatase deficiency, 229700 (3), Autosomal recessive	Fbp1 (MGI:95492)
chr9	94726699	95150224	9q22.32	9q22.32	619600	AOPEP, C9orf3, DYT31	Aminopeptidase O	AOPEP	84909	ENSG00000148120		Dystonia 31, 619565 (3), Autosomal recessive	Aopep (MGI:1919311)
chr9	95085208	95085304	9q22.32	9q22.32	610723	MIR23B, MIRN23B	Micro RNA 23B	MIR23B	407011	ENSG00000207563			Mir23b (MGI:2676898)
chr9	95085445	95085541	9q22.32	9q22.32	610636	MIR27B, MIRN27B	Micro RNA 27B	MIR27B	407019	ENSG00000207864			Mir27b (MGI:2676903)
chr9	95086021	95086088	9q22.32	9q22.32	609705	MIR189, MIRN24-1	Micro RNA 24-1	MIR24-1	407012	ENSG00000284459			Mir24-1 (MGI:2676899)
chr9	95099054	95317709	9q22.3	9q22.32	613899	FANCC, FACC	Fanconi anemia, complementation group C	FANCC	2176	ENSG00000158169		Fanconi anemia, complementation group C, 227645 (3), Autosomal recessive	Fancc (MGI:95480)
chr9	95442980	95516971	9q22.3	9q22.32	601309	PTCH1, NBCCS, BCNS1, HPE7	Patched 1	PTCH1	5727	ENSG00000185920		Basal cell nevus syndrome 1, 109400 (3), Autosomal dominant; Basal cell carcinoma, somatic, 605462 (3); Holoprosencephaly 7, 610828 (3), Autosomal dominant	Ptch1 (MGI:105373)
chr9	95875691	96041092	9q22.32	9q22.32	615667	ERCC6L2, RAD26L, BMFS2	ERCC6 excision repair 6-like 2	ERCC6L2	375748	ENSG00000182150		Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive	Ercc6l2 (MGI:1923501)
chr9	96235306	96302176	9q22	9q22.32	605573	HSD17B3, EDH17B3	Hydroxysteroid (17-beta) dehydrogenase 3	HSD17B3	3293	ENSG00000130948		Pseudohermaphroditism, male, with gynecomastia, 264300 (3), Autosomal recessive	Hsd17b3 (MGI:107177)
chr9	96313444	96383711	9q22.3	9q22.32	609182	SLC35D2, HFRC1, SQV7L	Solute carrier family 35, member D2	SLC35D2	11046	ENSG00000130958			Slc35d2 (MGI:1917734)
chr9	96385941	96418370	9q22.32	9q22.32	610160	ZNF367, AFF29	Zinc finger protein 367	ZNF367	195828	ENSG00000165244			Zfp367 (MGI:2442266)
chr9	96450102	96491336	9q22.32	9q22.32	617369	HABP4, IHABP4	Hyaluronan-binding protein 4	HABP4	22927	ENSG00000130956			Habp4 (MGI:1891713)
chr9	96490939	96619843	9q22.32-q22.33	9q22.32-q22.33	603505	CDC14B	Cell division cycle 14B	CDC14B	8555	ENSG00000081377			Cdc14b (MGI:2441808)
chr9	96754553	96778087	9q22.33	9q22.33	619385	ZNF510, KIAA0972	Zinc finger protein 510	ZNF510	22869	ENSG00000081386			
chr9	97029677	97039643	9q22.2	9q22.33	603308	CTSV, CTSL2	Cathepsin V	CTSV	1515	ENSG00000136943			Ctsl (MGI:88564)
chr9	97412096	97496125	9q22.33	9q22.33	611258	TDRD7, KIAA1529, TRAP, CATC4, CTRCT36	Tudor domain-containing protein 7	TDRD7	23424	ENSG00000196116		Cataract 36, 613887 (3), Autosomal recessive	Tdrd7 (MGI:2140279)
chr9	97501180	97601743	9q22.3	9q22.33	190930	TMOD1, ETMOD	Tropomodulin 1	TMOD1	7111	ENSG00000136842			Tmod1 (MGI:98775)
chr9	97633821	97673748	9q22.3-q31	9q22.33	600469	NCBP1	Nuclear cap binding protein 1, 80kD	NCBP1	4686	ENSG00000136937	in 500kb of XPA		Ncbp1 (MGI:1891840)
chr9	97654398	97697340	9q22.3	9q22.33	611153	XPA, XPAC	XPA complementing gene	XPA	7507	ENSG00000136936		Xeroderma pigmentosum, group A, 278700 (3), Autosomal recessive	Xpa (MGI:99135)
chr9	97853226	97856717	9q22	9q22.33	602617	FOXE1, FKHL15, TITF2, TTF2, NMTC4, BAMLAZ	Forkhead box E1 (thyroid transcription factor-2)	FOXE1	2304	ENSG00000178919		Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant	Foxe1 (MGI:1353500)
chr9	97926791	97944852	9q22	9q22.33	610715	HEMGN, EDAG	Hemogen	HEMGN	55363	ENSG00000136929			Hemgn (MGI:2136910)
chr9	97983341	98015943	9q22.33	9q22.33	619823	ANP32B, SSP29, APRIL	Acidic nuclear phosphoprotein 32 family, member B	ANP32B	10541	ENSG00000136938			Anp32b (MGI:1914878)
chr9	98035797	98119222	9q22-q31	9q22.33	606556	TRIM14, KIAA0129	Tripartite motif-containing protein 14	TRIM14	9830	ENSG00000106785			Trim14 (MGI:1921985)
chr9	98056732	98083077	9q22.33	9q22.33	605202	NANS, SAS, SEMDG	N-acetylneuraminic acid synthase (sialic acid synthase)	NANS	54187	ENSG00000095380		Spondyloepimetaphyseal dysplasia, Genevieve type, 610442 (3), Autosomal recessive	Nans (MGI:2149820)
chr9	98120975	98192637	9q22.3	9q22.33	602159	CORO2A, WDR2, IR10	Coronin 2A	CORO2A	7464	ENSG00000106789			Coro2a (MGI:1345966)
chr9	98198998	98255649	9q22.3	9q22.33	609871	TBC1D2, PARIS1	TBC1 domain family, member 2	TBC1D2	55357	ENSG00000095383			Tbc1d2 (MGI:2652885)
chr9	98288109	98708935	9q22.1	9q22.33	607340	GABBR2, GPR51, DEE59, NDPLHS	Gamma-aminobutyric acid B receptor 2	GABBR2	9568	ENSG00000136928		{Nicotine dependence, protection against}, 188890 (3); {Nicotine dependence, susceptibility to}, 188890 (3); Developmental and epileptic encephalopathy 59, 617904 (3), Autosomal dominant; Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3), Autosomal dominant	Gabbr2 (MGI:2386030)
chr9	98732009	98796555	9q22.33	9q22.33	615370	ANKS6, PKDR1, NPHP16	Ankyrin repeat and sterile alpha motif domains-containing protein 6	ANKS6	203286	ENSG00000165138		Nephronophthisis 16, 615382 (3), Autosomal recessive	Anks6 (MGI:1922941)
chr9	98807670	98850081	9q22	9q22.33	610290	GALNT12, CRCS1	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12	GALNT12	79695	ENSG00000119514		{Colorectal cancer, susceptibility to, 1}, 608812 (3)	Galnt12 (MGI:2444664)
chr9	98943907	99070787	9q21-q22	9q22.33	120325	COL15A1	Collagen XV, alpha-1 polypeptide	COL15A1	1306	ENSG00000204291			Col15a1 (MGI:88449)
chr9	99103647	99154192	9q22	9q22.33	190181	TGFBR1, ALK5, AAT5, LDS1, MSSE	Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)	TGFBR1	7046	ENSG00000106799		{Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3), Autosomal dominant; Loeys-Dietz syndrome 1, 609192 (3), Autosomal dominant	Tgfbr1 (MGI:98728)
chr9	99216425	99221942	9q22	9q22.33	607905	ALG2, CDGII, CMSTA3, CMS14	ALG2 alpha-1,3/1,6-mannosyltransferase	ALG2	85365	ENSG00000119523		Congenital disorder of glycosylation, type Ii, 607906 (3), Autosomal recessive; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3), Autosomal recessive	Alg2 (MGI:1914731)
chr9	99222282	99230615	9q22.33	9q22.33	609214	SEC61B	SEC61 translocon, beta subunit	SEC61B	10952	ENSG00000106803			Sec61b,Sec61bl (MGI:1913462,MGI:3642323)
chr9	99355340	99375257	9q22.33	9q22.33	620412	NAMA	Noncoding RNA associated with MAP kinase pathway and growth arrest	NAMA	100996569	ENSG00000271086			
chr9	99800001	105400000	9q31.1		614954	CHDT3	Congenital heart defects, multiple types, 3		101154642		max lod at D9S1690	Congenital heart defects, multiple types, 3, 614954 (2), Autosomal dominant	
chr9	99800001	114900000	9q31-q32		608026	HNP1	Hypertensive nephropathy		574045			Hypertensive nephropathy, 608026 (2)	
chr9	99800001	112100000	9q31		600156	HSCR5	Hirschsprung disease, susceptibility to, 5		404720			{Hirschsprung disease, susceptibility to, 5}, 600156 (2), Autosomal dominant	
chr9	99800001	112100000	9q31		607853	PAND2	Panic disorder 2		619493		max lod at D9S271	Panic disorder 2, 607853 (2)	
chr9	99800001	138394717	9q31-q34		183840	SPDA2	Spondyloarthropathy, susceptibility to, 2		791255		max lod at D9S1776	{Spondyloarthropathy, susceptibility to, 2}, 183840 (2), Autosomal dominant	
chr9	99821885	99866891	9q22	9q31.1	600542	CSMF	Chondrosarcoma, extraskeletal myxoid, fused to EWS in	NR4A3	8013	ENSG00000119508	t(9;17)(q22;q11); t(9;22)(q22;q11-q12)	Chondrosarcoma, extraskeletal myxoid, 612237 (3)	Nr4a3 (MGI:1352457)
chr9	99906654	99974534	9q31	9q31.1	604204	STX17	Syntaxin 17	STX17	55014	ENSG00000136874			Stx17 (MGI:1914977)
chr9	99979185	100099000	9q31.1	9q31.1	609170	TXNDC4, KIAA0573	Thioredoxin domain-containing protein 4	ERP44	23071	ENSG00000023318			Erp44 (MGI:1923549)
chr9	100099243	100302175	9q31	9q31.1	243305	INVS, INV, NPHP2, NPH2	Inversin	INVS	27130	ENSG00000119509		Nephronophthisis 2, infantile, 602088 (3), Autosomal recessive	Invs (MGI:1335082)
chr9	100302084	100352942	9q31.1	9q31.1	616717	TEX10	Testis-expressed gene 10	TEX10	54881	ENSG00000136891			Tex10 (MGI:1344413)
chr9	100473149	100577636	9q31	9q31.1	603421	TMEFF1, C9orf2	Transmembrane protein with EGF-like and 2 follistatin-like domains 1	TMEFF1	8577	ENSG00000241697			Tmeff1 (MGI:1926810)
chr9	100576867	100588389	9q31	9q31.1	617714	CAVIN4, MURC	Caveolae-associated protein 4	CAVIN4	347273	ENSG00000170681			Cavin4 (MGI:1915266)
chr9	101028727	101325135	9q31.1	9q31.1	619590	PLPPR1, PRG3	Phospholipid phosphatase-related protein 1	PLPPR1	54886	ENSG00000148123			Plppr1 (MGI:2445015)
chr9	101360417	101385006	9q22.3	9q31.1	602938	BAAT, HCHO, FHCA3	Bile acid coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)	BAAT	570	ENSG00000136881		Hypercholanemia, familial 3, 619232 (3), Autosomal recessive	Baat (MGI:106642)
chr9	101387633	101398618	9q31.1	9q31.1	611854	MRPL50	Mitochondrial ribosomal protein L50	MRPL50	54534	ENSG00000136897	pseudogenes on 2, 5, and 10		Mrpl50 (MGI:107329)
chr9	101398851	101410654	9q22-q31	9q31.1	603132	ZNF189	Zinc finger protein-189	ZNF189	7743	ENSG00000136870			Zfp189 (MGI:2444707)
chr9	101420560	101435774	9q22.3	9q31.1	612724	ALDOB	Aldolase B, fructose-bisphosphatase	ALDOB	229	ENSG00000136872		Fructose intolerance, hereditary, 229600 (3), Autosomal recessive	Aldob (MGI:87995)
chr9	101473170	101533686	9q31.1	9q31.1	620264	PGAP4, C9orf125, TMEM246	Post-GPI attachment to proteins, GalNAc transferase, 4	PGAP4	84302	ENSG00000165152			Pgap4 (MGI:1914313)
chr9	101533853	101563344	9q31.1	9q31.1	607699	RNF20, BRE1A	RING finger protein 20	RNF20	56254	ENSG00000155827			Rnf20 (MGI:1925927)
chr9	101569352	101738647	9q31.1	9q31.1	606650	GRIN3A, NR3A	Glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	GRIN3A	116443	ENSG00000198785			Grin3a (MGI:1933206)
chr9	101591604	101594969	9q31.1	9q31.1	613821	PPP3R2, PPP3RL, CBLP	Protein phosphatase 3, regulatory subunit B, beta	PPP3R2	5535	ENSG00000188386			Ppp3r2 (MGI:107171)
chr9	102995333	103018488	9q31.1	9q31.1	604035	CYLC2	Cylicin 2	CYLC2	1539	ENSG00000155833			Cylc2 (MGI:1922164)
chr9	104088263	104141419	Chr.9	9q31.1	605576	CAPE	Chromosome-associated protein E	SMC2	10592	ENSG00000136824			Smc2 (MGI:106067)
chr9	104747683	104760120	9q31.1	9q31.1	608871	NIPSNAP3A, TASSC, NIPSNAP4	Nipsnap homolog 3A	NIPSNAP3A	25934	ENSG00000136783			Nipsnap3a,Nipsnap3b (MGI:1913786,MGI:1920648)
chr9	104764129	104790899	9q31.1	9q31.1	608872	NIPSNAP3B	Nipsnap homolog 3B	NIPSNAP3B	55335	ENSG00000165028			Nipsnap3a,Nipsnap3b (MGI:1913786,MGI:1920648)
chr9	104781006	104928155	9q22-q31	9q31.1	600046	ABCA1, ABC1, HPALP1, TGD, HDLCQTL13	ATP-binding cassette 1	ABCA1	19	ENSG00000165029		Tangier disease, 205400 (3), Autosomal recessive; HDL deficiency, familial, 1, 604091 (3), Autosomal dominant	Abca1 (MGI:99607)
chr9	105244651	105438504	9q31.2	9q31.1-q31.2	606105	SLC44A1, CTL1, CDW92, CONATOC	Solute carrier family 44, member 1	SLC44A1	23446	ENSG00000070214		Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, 618868 (3), Autosomal recessive	Slc44a1 (MGI:2140592)
chr9	105400001	134500000	9q31.2-q34.2		612238	IS4	Scoliosis, idiopathic, susceptibility to, 4		100190785		max lod at D9S2157	{Scoliosis, idiopathic, susceptibility to, 4}, 612238 (2)	
chr9	105400001	108500000	9q31.2		612883	MENAQ3	Menarche, age at, QTL3		100302563		associated with rs2090409	{Menarche, age at, QTL3}, 612883 (2)	
chr9	105442177	105552433	9q31	9q31.2	609829	FSD1NL, FSD1L, MIR1, CCDC10	FSD1 N-terminus-like protein	FSD1L	83856	ENSG00000106701			Fsd1l (MGI:2442443)
chr9	105558130	105641118	9q31	9q31.2	607440	FKTN, FCMD, CMD1X, LGMDR13, MDDGA4, MDDGB4, MDDGC4	Fukutin	FKTN	2218	ENSG00000106692		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3), Autosomal recessive; Cardiomyopathy, dilated, 1X, 611615 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, 613152 (3), Autosomal recessive	Fktn (MGI:2179507)
chr9	105662457	105663124	9q31	9q31.2	186855	TAL2	T-cell acute lymphocytic leukemia-2	TAL2	6887	ENSG00000186051	33kb from breakpoint in t(7;9)	Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)	Tal2 (MGI:99540)
chr9	105694541	105776629	9q31.2	9q31.2	611236	TMEM38B, TRICB, OI14	Transmembrane protein 38B	TMEM38B	55151	ENSG00000095209		Osteogenesis imperfecta, type XIV, 615066 (3), Autosomal recessive	Tmem38b (MGI:1098718)
chr9	106860158	107013634	9q31.2	9q31.2	617371	ZNF462, KIAA1803, WSKA	Zinc finger protein 462	ZNF462	58499	ENSG00000148143		Weiss-Kruszka syndrome, 618619 (3), Autosomal dominant	Zfp462 (MGI:107690)
chr9	107283279	107332194	9q31.2	9q31.2	600062	RAD23B	RAD23 homolog B, nucleotide excision repair protein	RAD23B	5887	ENSG00000119318	previously 3p25.1		Rad23b (MGI:105128)
chr9	107484852	107489769	9q31	9q31.2	602253	KLF4, EZF, GKLF	Kruppel-like factor 4	KLF4	9314	ENSG00000136826			Klf4 (MGI:1342287)
chr9	108854588	108855986	9q31	9q31.3	604304	ACTL7B	Actin-like 7B	ACTL7B	10880	ENSG00000148156			Actl7b (MGI:1343053)
chr9	108862266	108863756	9q31	9q31.3	604303	ACTL7A, SPGF86	Actin-like 7A	ACTL7A	10881	ENSG00000187003		Spermatogenic failure 86, 620499 (3), Autosomal recessive	Actl7a (MGI:1343051)
chr9	108867517	108934124	9q31	9q31.3	603722	ELP1, IKBKAP, IKAP	Elongator complex protein 1	ELP1	8518	ENSG00000070061		{Medulloblastoma}, 155255 (3), Somatic mutation, Autosomal recessive, Autosomal dominant; Dysautonomia, familial, 223900 (3), Autosomal recessive	Elp1 (MGI:1914544)
chr9	108934400	108950744	9q31.3	9q31.3	620392	ABITRAM, C9orf6, FAM206A	Actin-binding transcription modulator	ABITRAM	54942	ENSG00000119328			Abitram (MGI:2677850)
chr9	108942577	109013499	9q31.2	9q31.3	604785	CTNNAL1	Catenin, alpha-like, 1	CTNNAL1	8727	ENSG00000119326			Ctnnal1 (MGI:1859649)
chr9	109015135	109119947	9q31	9q31.3	620252	TMEM245, CG2	Transmembrane protein 245	TMEM245	23731	ENSG00000106771			Tmem245 (MGI:2445107)
chr9	109046229	109046298	9q31.3	9q31.3	609355	MIR32, MIRN32	Micro RNA 32	MIR32	407036	ENSG00000207698			Mir32 (MGI:3619331)
chr9	109130293	109167249	9q31.3	9q31.3	604574	FRRS1L, C9orf4, CG6, DEE37	Ferric-chelate reductase 1-like	FRRS1L	23732	ENSG00000260230		Developmental and epileptic encephalopathy 37, 616981 (3), Autosomal recessive	Frrs1l (MGI:2442704)
chr9	109171974	109321059	9q31-q32	9q31.3	610340	EPB41L4B, EHM2	Erythrocyte membrane protein band 4.1-like 4B	EPB41L4B	54566	ENSG00000095203			Epb41l4b (MGI:1859149)
chr9	109375694	109538420	9q31.3	9q31.3	176877	PTPN3, PTPH1	Protein-tyrosine phosphatase, nonreceptor-type, 3	PTPN3	5774	ENSG00000070159			Ptpn3 (MGI:105307)
chr9	109640787	110172512	9q31.3	9q31.3	604582	PALM2AKAP2, AKAP2, AKAPKL, KIAA0920, PALM2, MISP2	PALM2 and AKAP2 fusion	PALM2AKAP2	445815	ENSG00000157654	multiple splice variants		Pakap (MGI:5141924)
chr9	110243810	110256507	9q31	9q31.3	187700	TXN	Thioredoxin	TXN	7295	ENSG00000136810	incorrectly assigned to 3		Txn1 (MGI:98874)
chr9	110301231	110337863	9q32	9q31.3	617789	TXNDC8, SPTRX3	Thioredoxin domain-containing protein 8	TXNDC8	255220	ENSG00000204193			Txndc8 (MGI:1914652)
chr9	110365248	110579741	9q32	9q31.3	611691	SVEP1, POLYDOM, SELOB	Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1	SVEP1	79987	ENSG00000165124			Svep1 (MGI:1928849)
chr9	110668791	110806558	9q31.3-q32	9q31.3	601296	MUSK, CMS9, FADS1	Receptor tyrosine kinase MuSK	MUSK	4593	ENSG00000030304		Fetal akinesia deformation sequence 1, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3), Autosomal recessive	Musk (MGI:103581)
chr9	110873263	111038998	9q31.3	9q31.3	602282	LPAR1, EDG2, LPA1, VZG1	Lysophosphatidic acid receptor 1	LPAR1	1902	ENSG00000198121			Lpar1 (MGI:108429)
chr9	111360685	111484383	9q31.3	9q31.3	616694	ECPAS, ECM29, KIAA0368	ECM29 proteasome adaptor and scaffold protein	ECPAS	23392	ENSG00000136813			Ecpas (MGI:2140220)
chr9	111549722	111599647	9q31.3	9q31.3	601274	PTGR1, LTB4DH	Prostaglandin reductase 1	PTGR1	22949	ENSG00000106853			Ptgr1 (MGI:1914353)
chr9	111661605	111670226	9q31.3	9q31.3	604389	GNG10	Guanine nucleotide-binding protein, gamma 10	GNG10	2790	ENSG00000242616			Gng10 (MGI:1336169)
chr9	111686171	111794937	9q31.3	9q31.3	618038	SHOC1, C9orf84, ZIP2, SPGF75	Shortage in chiasmata 1	SHOC1	158401	ENSG00000165181		Spermatogenic failure 75, 619949 (3), Autosomal recessive	Shoc1 (MGI:2140313)
chr9	111896814	111935369	9q31	9q31.3	602874	UGCG, GCS	UDP-glucose ceramide glucosyltransferase	UGCG	7357	ENSG00000148154			Ugcg (MGI:1332243)
chr9	112100001	127500000	9q32-q33		611488	ARMD10	Macular degeneration, age-related, 10					Macular degeneration, age-related, 10, 611488 (2)	
chr9	112100001	127500000	9q32-q33		608762	EIG3	Epilepsy, idiopathic generalized, susceptibility to 3		432400			{Epilepsy, idiopathic generalized, susceptibility to, 3}, 608762 (2), Autosomal recessive	
chr9	112100001	114900000	9q32		612259	IBD16	Inflammatory bowel disease 16, susceptibility to		100190930			{Inflammatory bowel disease 16}, 612259 (2)	
chr9	112217715	112379882	9q32	9q32	607527	PTBP3, ROD1	Polypyrimidine tract binding protein 3	PTBP3	9991	ENSG00000119314			Ptbp3 (MGI:1923334)
chr9	112486827	112669397	3q32	9q32	617390	KIAA1958	KIAA1958 gene	KIAA1958	158405	ENSG00000165185			E130308A19Rik (MGI:2442164)
chr9	112683926	112718117	9q32	9q32	613273	INIP, C9orf80, SOSSC	INST3- and NABP-interacting protein	INIP	58493	ENSG00000148153			Inip (MGI:1913459)
chr9	112749723	112885769	9q32	9q32	620955	SNX30	Sorting nexin 30	SNX30	401548	ENSG00000148158			Snx30 (MGI:2443882)
chr9	112878920	112890876	9q31-q34	9q32	608956	SLC46A2, TSCOT	Solute carrier family 46, member 2	SLC46A2	57864	ENSG00000119457			Slc46a2 (MGI:1353616)
chr9	113038377	113056724	9q32	9q32	602951	ZFP37	Zinc finger protein-37, mouse, homolog of	ZFP37	7539	ENSG00000136866	?candidate for Nager syndrome		Zfp37 (MGI:99181)
chr9	113151007	113164140	9q31-q32	9q32	603088	SLC13A2, COPT2, CTR2	Solute carrier family 31 (copper transporter), member 2	SLC31A2	1318	ENSG00000136867			Slc31a2 (MGI:1333844)
chr9	113161006	113221277	9q32	9q32	617398	FKBP15, FKBP133, KIAA0674, WAFL	FK506-binding protein 15	FKBP15	23307	ENSG00000119321			Fkbp15 (MGI:2444782)
chr9	113221544	113264492	9q32	9q32	603085	SLC31A1, COPT1, CTR1, NSCT	Solute carrier family 31 (copper transporter), member 1	SLC31A1	1317	ENSG00000136868		Neurodegeneration and seizures due to copper transport defect, 620306 (3), Autosomal recessive	Slc31a1 (MGI:1333843)
chr9	113266992	113275572	9q32	9q32	614533	CDC26, APC12	Cell division cycle 26	CDC26	246184	ENSG00000176386	pseudogene on 7q32.1		Cdc26 (MGI:1913690)
chr9	113275658	113292905	9q31-q33	9q32	607795	PRPF4, PRP4, HPRP4, RP70	Pre-mRNA processing factor 4	PRPF4	9128	ENSG00000136875		Retinitis pigmentosa 70, 615922 (3), Autosomal dominant	Prpf4 (MGI:1917302)
chr9	113297093	113303376	9q32	9q32	621029	RNF183	RING finger protein 183	RNF183	138065	ENSG00000165188			Rnf183 (MGI:1923322)
chr9	113313222	113340275	9q32	9q32	620951	WDR31	WD repeat-containing protein 31	WDR31	114987	ENSG00000148225			Wdr31 (MGI:1918604)
chr9	113349541	113371222	9q32	9q32	619683	BSPRY	B-box- and SPRY domain-containing protein	BSPRY	54836	ENSG00000119411			Bspry (MGI:2177191)
chr9	113386312	113401284	9q34	9q32	125270	ALAD, ALADH, PBGS	Aminolevulinate, delta-, dehydratase	ALAD	210	ENSG00000148218	linked to ABO; ORM-ALAD-AK-ABO	Porphyria, acute hepatic, 612740 (3), Autosomal recessive; {Lead poisoning, susceptibility to}, 612740 (3), Autosomal recessive	Alad (MGI:96853)
chr9	113407235	113410749	9q33	9q32	607267	POLE3, CHARAC17, YBL1	Polymerase, DNA, epsilon-3	POLE3	54107	ENSG00000148229			Pole3 (MGI:1933378)
chr9	113444730	113597738	9q31-q33	9q32	602189	RGS3	Regulator of G-protein signaling-3	RGS3	5998	ENSG00000138835			Rgs3 (MGI:1354734)
chr9	113876309	114056593	9q32	9q32	617077	ZNF618, NEDD10, KIAA1952	Zinc finger protein 618	ZNF618	114991	ENSG00000157657			Zfp618 (MGI:1919950)
chr9	114060127	114078300	9q32-q33	9q32	176870	AMBP, ITIL, ITI, HCP	Alpha-1-microglobulin/bikunin precursor (inter-alpha-trypsin inhibitor, light chain; protein HC)	AMBP	259	ENSG00000106927			Ambp (MGI:88002)
chr9	114091638	114099292	9q32	9q32	611278	KIF12, PFIC8	Kinesin family member 12	KIF12	113220	ENSG00000136883		Cholestasis, progressive familial intrahepatic, 8, 619662 (3), Autosomal recessive	Kif12 (MGI:1098232)
chr9	114154098	114312511	9q32	9q32	608461	COL27A1, KIAA1870, STLS	Collagen, type XXVII, alpha-1	COL27A1	85301	ENSG00000196739		Steel syndrome, 615155 (3), Autosomal recessive	Col27a1 (MGI:2672118)
chr9	114323098	114326479	9q34.1-q34.3	9q32	138600	ORM1, AGP1	Orosomucoid-1 (alpha-1-acid glycoprotein-1)	ORM1	5004	ENSG00000229314	linked to ABO, AK1, ALAD		Orm1,Orm2,Orm3 (MGI:97443,MGI:97444,MGI:97445)
chr9	114329869	114333251	9q34.1-q34.3	9q32	138610	ORM2	Orosomucoid-2	ORM2	5005	ENSG00000228278			Orm1,Orm2,Orm3 (MGI:97443,MGI:97444,MGI:97445)
chr9	114330504	114398472	9q32	9q32	605729	AKNA	AT-hook transcription factor	AKNA	80709	ENSG00000106948			Akna (MGI:2140340)
chr9	114402080	114505473	9q32-q34	9q32	607928	WHRN, CIP98, KIAA1526, DFNB31, USH2D	Whirlin	WHRN	25861	ENSG00000095397		Deafness, autosomal recessive 31, 607084 (3), Autosomal recessive; Usher syndrome, type 2D, 611383 (3), Autosomal recessive	Whrn (MGI:2682003)
chr9	114587769	114598879	9q32	9q32	607296	ATP6V1G1, ATP6G1	ATPase, H+ transporting, V1 subunit G1	ATP6V1G1	9550	ENSG00000136888			Atp6v1g1 (MGI:1913540)
chr9	114784635	114806039	9q32	9q32	604052	TNFSF15, TL1, VEGI	Tumor necrosis factor ligand superfamily, member 15 (vascular endothelial growth inhibitor)	TNFSF15	9966	ENSG00000181634			Tnfsf15 (MGI:2180140)
chr9	114893343	114930595	9q33	9q32-q33.1	603875	TNFSF8, CD30L, CD30LG	Tumor necrosis factor ligand superfamily, member 8 (CD30 ligand)	TNFSF8	944	ENSG00000106952			Tnfsf8 (MGI:88328)
chr9	114900001	127500000	9q33		613207	ASRT8	Asthma-related traits, susceptibility to, 8		100415896		associated with rs3789873	{Asthma-related traits, susceptibility to, 8}, 613207 (2)	
chr9	115019575	115118157	9q33	9q33.1	187380	TNC, HXB, DFNA56	Tenascin C (hexabrachion)	TNC	3371	ENSG00000041982	proximal to ABL	Deafness, autosomal dominant 56, 615629 (3), Autosomal dominant	Tnc (MGI:101922)
chr9	115141818	115402644	9q32	9q33.1	604767	DEC1	Deleted in esophageal cancer 1	DELEC1	50514	ENSG00000173077			
chr9	116153791	116402321	9q33.1	9q33.1	176385	PAPPA, DIPLA1	Pappalysin 1	PAPPA	5069	ENSG00000182752			Pappa (MGI:97479)
chr9	116398157	116400606	9q33.1	9q33.1	610689	DIPAS	DIPLA1, antisense	PAPPA-AS1	493913	ENSG00000256040			
chr9	116423112	117415057	9q33.1	9q33.1	612856	ASTN2, KIAA0634	Astrotactin 2	ASTN2	23245	ENSG00000148219			Astn2 (MGI:1889277)
chr9	116687305	116701299	9q31-q34.1	9q33.1	602290	TRIM32, HT2A, LGMDR8, BBS11	Tripartite-motif-containing protein 32	TRIM32	22954	ENSG00000119401	mutation identified in 1 BBS11 family	?Bardet-Biedl syndrome 11, 615988 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3), Autosomal recessive	Trim32 (MGI:1917057)
chr9	117704403	117724735	9q32-q33	9q33.1	603030	TLR4	Toll-like receptor-4	TLR4	7099	ENSG00000136869			Tlr4 (MGI:96824)
chr9	119166629	119369435	9q33.1	9q33.1	602865	BRINP1, DBC1, DBCCR1	Bone morphogenetic protein/retinoic acid-inducible neural-specific protein 1	BRINP1	1620	ENSG00000078725			Brinp1 (MGI:1928478)
chr9	120388875	120580167	9q33.3	9q33.2	608201	CDK5RAP2, KIAA1633, MCPH3	CDK5 regulatory subunit-associated protein 2	CDK5RAP2	55755	ENSG00000136861		Microcephaly 3, primary, autosomal recessive, 604804 (3), Autosomal recessive	Cdk5rap2 (MGI:2384875)
chr9	120600811	120714470	9q32-q33.3	9q33.2	604268	MEGF9, EGFL5	Multiple epidermal growth factor-like domains 9	MEGF9	1955	ENSG00000106780			Megf9 (MGI:1918264)
chr9	120756974	120793416	9q34	9q33.2	609071	FBXW2, FBW2, FWD2	F-box and WD40 domain protein 2	FBXW2	26190	ENSG00000119402			Fbxw2 (MGI:1353435)
chr9	120793467	120801787	9q33.2	9q33.2	620239	B3GALT9, KIAA0072, B3GNT10	Beta-1,3-galactosyltransferase 9	B3GALT9	100288842	ENSG00000214654			B3galt9 (MGI:5593812)
chr9	120816053	120842922	9q33.2	9q33.2	604452	PSMD5, S5B	Proteasome 26S subunit, non-ATPase, 5	PSMD5	5711	ENSG00000095261			Psmd5 (MGI:1914248)
chr9	120855651	120904128	9q33.3	9q33.2	609740	PHF19	PHD finger protein 19	PHF19	26147	ENSG00000119403			Phf19 (MGI:1921266)
chr9	120902393	120929171	9q33-q34	9q33.2	601711	TRAF1	TNF receptor-associated factor 2	TRAF1	7185	ENSG00000056558			Traf1 (MGI:101836)
chr9	120952335	121074865	9q34.1	9q33.2	120900	C5, C5D, ECLZB	Complement component-5	C5	727	ENSG00000106804		C5 deficiency, 609536 (3), Autosomal recessive; [Eculizumab, poor response to], 615749 (3), Autosomal dominant	Hc (MGI:96031)
chr9	121074955	121177610	9q33	9q33.2	605496	CEP1, CEP110, FAN	Centrosomal protein 1	CNTRL	11064	ENSG00000119397			Cntrl (MGI:1889576)
chr9	121178133	121201869	9q33.2	9q33.2	612673	RAB14	Ras-associated protein	RAB14	51552	ENSG00000119396			Rab14 (MGI:1915615)
chr9	121201483	121332842	9q34	9q33.2	137350	GSN, AMYLD4	Gelsolin	GSN	2934	ENSG00000148180	40kb proximal to ABL	Amyloidosis, Finnish type, 105120 (3), Autosomal dominant	Gsn (MGI:95851)
chr9	121338987	121370250	9q34.1	9q33.2	133090	STOM, EPB72, BND7	Stomatin (erythrocyte membrane protein band 7.2)	STOM	2040	ENSG00000148175	proximal to ABL		Stom (MGI:95403)
chr9	121444990	121499844	9q33-q34	9q33.2	104175	GGTA1P, GGTA1	Glycoprotein, alpha-galactosyltransferase-1 pseudogene	GGTA1	2681	ENSG00000204136	processed pseudogene GGTA1P on 12q14-q15		Ggta1 (MGI:95704)
chr9	121567074	121785530	9q33	9q33.2	609205	DAB2IP, AIP1, KIAA1743	DAB2-interacting protein	DAB2IP	153090	ENSG00000136848			Dab2ip (MGI:1916851)
chr9	121815674	122093308	9q33.2	9q33.2	620694	TTLL11	Tubulin tyrosine ligase-like 11	TTLL11	158135	ENSG00000175764			Ttll11 (MGI:1921660)
chr9	122132466	122159779	9q33.2-q34.11	9q33.2	603359	NDUFA8, MC1DN37	NADH-ubiquinone oxidoreductase subunit A8	NDUFA8	4702	ENSG00000119421		Mitochondrial complex I deficiency, nuclear type 37, 619272 (3), Autosomal recessive	Ndufa8 (MGI:1915625)
chr9	122159908	122200083	9q33.2	9q33.2	619837	MORN5	MORN repeat-containing protein 5	MORN5	254956	ENSG00000185681			Morn5 (MGI:1922745)
chr9	122202582	122228957	9q33.2	9q33.2	608215	LHX6	LIM homeobox gene 6	LHX6	26468	ENSG00000106852			Lhx6 (MGI:1306803)
chr9	122264882	122331337	9q32-q34.1	9q33.2	604602	MRFF, RRF	Ribosome-recycling factor, mitochondrial	MRRF	92399	ENSG00000148187			Mrrf (MGI:1915121)
chr9	122370533	122395703	9q32-q33.3	9q33.2	176805	PTGS1, COX1, PGHS1, COX3, PCOX1	Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	PTGS1	5742	ENSG00000095303			Ptgs1 (MGI:97797)
chr9	122818097	122828588	Chr.9	9q33.2	604421	PDCL	Phosducin-like	PDCL	5082	ENSG00000136940			Pdcl (MGI:1914716)
chr9	122844556	122905359	9q34	9q33.2	615231	RC3H2, MNAB	RING finger and CCCH-type zinc finger domains-containing protein 2	RC3H2	54542	ENSG00000056586			Rc3h2 (MGI:2442789)
chr9	122908056	122913323	9q33.2	9q33.2	605976	ZBTB6, ZID	Zinc finger- and BTB domain-containing protein 6	ZBTB6	10773	ENSG00000186130			Zbtb6 (MGI:2442998)
chr9	122915566	122931512	9q33.2	9q33.2	620164	ZBTB26	Zinc finger- and BTB domain-containing protein 26	ZBTB26	57684	ENSG00000171448			Zbtb26 (MGI:2444402)
chr9	122931671	123104866	9q33.2-q33.3	9q33.2-q33.3	615882	RABGAP1, GAPCENA, TBC1D11	RAB GTPase-activating protein 1	RABGAP1	23637	ENSG00000011454			Rabgap1 (MGI:2385139)
chr9	123033667	123049103	9q33	9q33.2	601909	GPR21	G protein-coupled receptor-21	GPR21	2844	ENSG00000188394			Gpr21 (MGI:2441890)
chr9	123109494	123268586	9q34	9q33.3	611138	STRBP, SPNR, p74	Spermatid perinuclear RNA-binding protein	STRBP	55342	ENSG00000165209			Strbp (MGI:104626)
chr9	123354065	123380326	9q33.3	9q33.3	609720	CRB2, FSGS9, VMCKD	Crumbs cell polarity complex component 2	CRB2	286204	ENSG00000148204		Focal segmental glomerulosclerosis 9, 616220 (3), Autosomal recessive; Ventriculomegaly with cystic kidney disease, 219730 (3), Autosomal recessive	Crb2 (MGI:2679260)
chr9	123379658	123930126	9q33.2	9q33.3	613633	DENND1A, KIAA1608	DENN/MADD domain-containing protein 1A	DENND1A	57706	ENSG00000119522			Dennd1a (MGI:2442794)
chr9	124011768	124033301	9q33-q34.1	9q33.3	603759	LHX2, LH2	LIM/homeodomain protein LHX2	LHX2	9355	ENSG00000106689			Lhx2 (MGI:96785)
chr9	124257606	124353307	9q33.3-q34.11	9q33.3	604884	NEK6	NIMA-related kinase 6	NEK6	10783	ENSG00000119408			Nek6 (MGI:1891638)
chr9	124353465	124415442	9q34.11-q34.12	9q33.3	604030	PSMB7	Proteasome subunit, beta-type, 7	PSMB7	5695	ENSG00000136930			Psmb7 (MGI:107637)
chr9	124450451	124478580	9q33.3	9q33.3	620837	PDGRD2, GPR144, PGR24	Adhesion G protein-coupled receptor D2	ADGRD2	347088	ENSG00000180264			
chr9	124481236	124507399	9q33	9q33.3	184757	NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4	Nuclear receptor subfamily 5, group A, member 1	NR5A1	2516	ENSG00000136931		46XX sex reversal 4, 617480 (3), Autosomal dominant; Premature ovarian failure 7, 612964 (3), Autosomal dominant; 46XY sex reversal 3, 612965 (3), Autosomal dominant; Adrenocortical insufficiency, 612964 (3), Autosomal dominant; Spermatogenic failure 8, 613957 (3), Autosomal dominant	Nr5a1 (MGI:1346833)
chr9	124517275	124771311	9q33-q34.1	9q33.3	602778	GCNF	Germ cell nuclear factor	NR6A1	2649	ENSG00000148200			Nr6a1 (MGI:1352459)
chr9	124692442	124692551	9q33.3	9q33.3	612743	MIR181A2, MIRN181A2	Micro RNA 181A2	MIR181A2	406954	ENSG00000207595			Mir181a-2 (MGI:2676845)
chr9	124693710	124693798	9q33.3	9q33.3	612745	MIR181B2, MIRN181B2	Micro RNA 181B2	MIR181B2	406956	ENSG00000207737			Mir181b-2 (MGI:3618736)
chr9	124777133	124814882	9q33.3	9q33.3	615899	OLFML2A	Olfactomedin-like 2A	OLFML2A	169611	ENSG00000185585			Olfml2a (MGI:2444741)
chr9	124857883	124861957	9q33.3	9q33.3	618315	RPL35, DBA19	Ribosomal protein L35	RPL35	11224	ENSG00000136942	mutation identified in 1 DBA19 family	?Diamond-Blackfan anemia 19, 618312 (3), Autosomal dominant	Rpl35,Rpl35rt (MGI:1913739,MGI:3780170)
chr9	124878275	124948043	9q33.3	9q33.3	602502	GOLGA1	Golgin A1	GOLGA1	2800	ENSG00000136935			Golga1 (MGI:1924149)
chr9	124942608	125143528	9q33.3	9q33.3	619222	SCAI, C9orf126	Suppressor of cancer cell invasion	SCAI	286205	ENSG00000173611			Scai (MGI:2443716)
chr9	125146573	125189803	9q33.3	9q33.3	612725	PPP6C	Protein phosphatase 6, catalytic subunit	PPP6C	5537	ENSG00000119414	highly related sequence on Xq22.3		Ppp6c (MGI:1915107)
chr9	125200542	125234161	9q33.3	9q33.3	605962	RABEPK	RAB9 effector protein with kelch motifs	RABEPK	10244	ENSG00000136933			Rabepk (MGI:2139530)
chr9	125234853	125241343	9q34	9q33.3	138120	HSPA5, GRP78	Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD)	HSPA5	3309	ENSG00000044574			Hspa5 (MGI:95835)
chr9	125261826	125367207	9q33.3	9q33.3	611714	GAPVD1, RAP6, GAPEX5, KIAA1521	GTPase-activating protein and VPS9 domains 1	GAPVD1	26130	ENSG00000165219			Gapvd1 (MGI:1913941)
chr9	125437394	125707208	9q33.3	9q33.3	610558	MAPKAP1, SIN1, MIP1, JC310	Mitogen-activated protein kinase-associated protein 1	MAPKAP1	79109	ENSG00000119487			Mapkap1 (MGI:2444554)
chr9	125747373	125967377	9q33-q34	9q33.3	176312	PBX3	Pre-B-cell leukemia transcription factor-3	PBX3	5090	ENSG00000167081			Pbx3 (MGI:97496)
chr9	126407775	126410504	9q33.3	9q33.3	609618	NRON	Noncoding repressor of NFAT	NRON	641373				Nron (MGI:2444126)
chr9	126613928	126701032	9q34.1	9q33.3	602575	LMX1B, NPS1, FSGS10	LIM homeobox transcription factor 1, beta	LMX1B	4010	ENSG00000136944		Focal segmental glomerulosclerosis 10, 256020 (3), Autosomal dominant; Nail-patella syndrome, 161200 (3), Autosomal dominant	Lmx1b (MGI:1100513)
chr9	126804072	126838210	9q33.3	9q33.3	618676	ZBTB43	Zinc finger- and BTB domain-containing protein 43	ZBTB43	23099	ENSG00000169155			Zbtb43 (MGI:1919084)
chr9	126860639	126885878	9q33.3	9q33.3	611692	ZBTB34, KIAA1993	Zinc finger- and BTB domain-containing protein 34	ZBTB34	403341	ENSG00000177125			Zbtb34 (MGI:2685195)
chr9	126914782	127223166	9q33.3	9q33.3	614444	RALGPS1, RALGEF2, KIAA0351	Ral guanine nucleotide exchange factor with PH domain and SH3 domain-binding motif 1	RALGPS1	9649	ENSG00000136828			Ralgps1 (MGI:1922008)
chr9	127087348	127122635	9q33.3	9q33.3	605001	ANGPTL2, ARP2	Angiopoietin-like 2	ANGPTL2	23452	ENSG00000136859			Angptl2 (MGI:1347002)
chr9	127397169	127407898	Chr.9	9q33.3	605245	SLC2A8, GLUT8	Solute carrier family 2, (facilitated glucose transporter) member 8	SLC2A8	29988	ENSG00000136856			Slc2a8 (MGI:1860103)
chr9	127424382	127445372	9q34	9q33.3	194552	ZNF79	Zinc finger protein-79 (pT7)	ZNF79	7633	ENSG00000196152			
chr9	127447674	127451406	9q33.3	9q33.3	180475	RPL12	Ribosomal protein L12	RPL12	6136	ENSG00000197958			Rpl12 (MGI:98002)
chr9	127451486	127503501	9q33.3-q34.11	9q33.3-q34.11	610933	LRSAM1, TAL, RIFLE, CMT2P	Leucine-rich repeat- and sterile alpha motif-containing 1	LRSAM1	90678	ENSG00000148356		Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3), Autosomal recessive, Autosomal dominant	Lrsam1 (MGI:2684789)
chr9	127500001	133100000	9q34.1		612557	CLLS3	Leukemia, chronic lymphocytic, susceptibility to, 3		100270642		associated with SNP -6531 upstream of DAPK1 promoter	{Leukemia, chronic lymphocytic, susceptibility to, 3}, 612557 (2)	
chr9	127500001	138394717	9q34		614860	DYT23	Dystonia 23		115029024		linkage to D9S159 and D9S1818	Dystonia 23, 614860 (2), Autosomal dominant	
chr9	127500001	130600000	9q34.11		621107	HMCN2	Hemicentin 2						
chr9	127500001	138394717	9q34		614623	KTCN6	Keratoconus 6		100885802		max lod at 159cM	Keratoconus 6, 614623 (2), Autosomal dominant	
chr9	127505343	127579031	9q34.13	9q34.11	614045	FAM129B, MINERVA	Family with sequence similarity 129, member B	NIBAN2	64855	ENSG00000136830			Niban2 (MGI:2442910)
chr9	127611912	127696029	9q34.1	9q34.11	602926	STXBP1, UNC18, DEE4	Syntaxin-binding protein 1	STXBP1	6812	ENSG00000136854		Developmental and epileptic encephalopathy 4, 612164 (3), Autosomal recessive, Autosomal dominant	Stxbp1 (MGI:107363)
chr9	127694150	127715676	9q34.11	9q34.11	621047	PTRH1	Peptidyl-tRNA hydrolase 1	PTRH1	138428	ENSG00000187024			Ptrh1 (MGI:1913779)
chr9	127731524	127735294	9q34.11	9q34.11	608052	TOR2A, TORP1	Torsin 2A	TOR2A	27433	ENSG00000160404			Tor2a (MGI:1353596)
chr9	127738317	127778666	9q34.11	9q34.11	604722	SH2D3C, NSP3	SH2 domain-containing protein 3C	SH2D3C	10044	ENSG00000095370			Sh2d3c (MGI:1351631)
chr9	127785918	127786007	9q34.11	9q34.11	613405	MIR2861, MIRN2861, BMND15	Micro RNA 2861	MIR2861	100422910	ENSG00000284547		[Bone mineral density QTL 15], 613418 (3), Autosomal recessive, Autosomal dominant	Mir2861 (MGI:4441431)
chr9	127786034	127790792	9q34.1	9q34.11	603251	CDK9, CDC2L4	Cyclin-dependent kinase-9	CDK9	1025	ENSG00000136807			Cdk9 (MGI:1328368)
chr9	127802858	127814506	9cen-q34	9q34.11	136510	FPGS	Folylpolyglutamate synthetase	FPGS	2356	ENSG00000136877			Fpgs (MGI:95576)
chr9	127815016	127854658	9q34.1	9q34.11	131195	ENG, END, HHT1, ORW	Endoglin	ENG	2022	ENSG00000106991		Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3), Autosomal dominant	Eng (MGI:95392)
chr9	127866480	127879621	9q34.1	9q34.11	103000	AK1, CNSHA3	Adenylate kinase-1	AK1	203	ENSG00000106992		Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient, 612631 (3), Autosomal recessive	Ak1 (MGI:87977)
chr9	127885321	127906616	9q34.11	9q34.11	610135	ST6GALNAC6, SIAT7F	ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	ST6GALNAC6	30815	ENSG00000160408			St6galnac6 (MGI:1355316)
chr9	127907886	127917041	9q31	9q34.11	606378	SIAT7D, SIAT3C	Sialyltransferase 7D	ST6GALNAC4	27090	ENSG00000136840			St6galnac4 (MGI:1341894)
chr9	127920881	127930777	9q34.11	9q34.11	612865	PIP5KL1, PIPKH	Phosphatidylinositol-4-phosphate-5-kinase-like 1	PIP5KL1	138429	ENSG00000167103			Pip5kl1 (MGI:2448520)
chr9	127935099	127937854	9q34.11	9q34.11	603564	DPM2, CDG1U	Dolichyl-phosphate mannosyltransferase 2, regulatory subunit	DPM2	8818	ENSG00000136908		Congenital disorder of glycosylation, type Iu, 615042 (3), Autosomal recessive	Dpm2 (MGI:1330238)
chr9	127940582	127980989	9q34.13	9q34.11	610891	FAM102A, EEIG1	Family with sequence similarity 102, member A	EEIG1	399665	ENSG00000167106			Eeig1 (MGI:2138935)
chr9	128061233	128067320	9q34.11	9q34.11	610673	C9orf90, NAIF1	Nuclear apoptosis-inducing factor 1	NAIF1	203245	ENSG00000171169			Naif1 (MGI:1918504)
chr9	128068232	128109245	9q34.11	9q34.11	608745	SLC25A25, SCAMC2, MCSC, KIAA1896	Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 25	SLC25A25	114789	ENSG00000148339			Slc25a25 (MGI:1915913)
chr9	128120693	128128440	9q34.13	9q34.11	608152	PTGES2, PGES2, GBF1	Prostaglandin E synthase 2	PTGES2	80142	ENSG00000148334			Ptges2 (MGI:1917592)
chr9	128149453	128153453	9q34	9q34.11	600181	LCN2, NGAL	Lipocalin 2 (oncogene 24p3)	LCN2	3934	ENSG00000148346			Lcn2 (MGI:96757)
chr9	128166065	128204222	9q34	9q34.11	611420	CIZ1, ZNF356, LSFR1, NP94	CDKN1A-interacting zinc finger protein 1	CIZ1	25792	ENSG00000148337			Ciz1 (MGI:1920234)
chr9	128203379	128255244	9q34	9q34.11	602377	DNM1, DEE31A, DEE31B	Dynamin-1	DNM1	1759	ENSG00000106976		Developmental and epileptic encephalopathy 31B, autosomal recessive, 620352 (3), Autosomal recessive; Developmental and epileptic encephalopathy 31A, autosomal dominant, 616346 (3), Autosomal dominant	Dnm1 (MGI:107384)
chr9	128244721	128244830	9q34.11	9q34.11	614791	MIR199B	Micro RNA 199B	MIR199B	406978	ENSG00000207581			Mir199b (MGI:2676865)
chr9	128255829	128276007	9q34.11	9q34.11	602580	GOLGA2, GM130, DEDHMB	Golgin A2	GOLGA2	2801	ENSG00000167110		Developmental delay with hypotonia, myopathy, and brain abnormalities, 620240 (3), Autosomal recessive	Golga2 (MGI:2139395)
chr9	128275356	128288989	9q34.11	9q34.11	616528	SWI5, SAE3, C9orf119	SWi5 homologous recombination repair protein	SWI5	375757	ENSG00000175854			Swi5 (MGI:1920181)
chr9	128305159	128322447	9q34.11	9q34.11	610727	TRUB2	TRUB pseudouridine synthase, E. coli, homolog of, 2	TRUB2	26995	ENSG00000167112			Trub2 (MGI:2442186)
chr9	128322839	128334072	9q34.13	9q34.11	612898	COQ4, COQ10D7, SPAX10	Coenzyme Q4	COQ4	51117	ENSG00000167113		Coenzyme Q10 deficiency, primary, 7, 616276 (3), Autosomal recessive; Spastic ataxia 10, autosomal recessive, 620666 (3), Autosomal recessive	Coq4 (MGI:1098826)
chr9	128340527	128361470	9q34	9q34.11	604194	SLC27A4, FATP4, IPS	Solute carrier family 27 (fatty acid transporter), member 4	SLC27A4	10999	ENSG00000167114		Ichthyosis prematurity syndrome, 608649 (3), Autosomal recessive	Slc27a4 (MGI:1347347)
chr9	128371319	128392016	9q34.11	9q34.11	612693	URM1	Ubiquitin-related modifier 1	URM1	81605	ENSG00000167118			Urm1 (MGI:1915455)
chr9	128419160	128437351	9q34.11	9q34.11	616626	CERCAM	Cerebral endothelial cell adhesion molecule	CERCAM	51148	ENSG00000167123			Cercam (MGI:2139134)
chr9	128455185	128501292	9q34	9q34.11	602015	ODF2, ODF84	Outer dense fiber of sperm tails 2	ODF2	4957	ENSG00000136811			Odf2 (MGI:1098824)
chr9	128504692	128542288	9q34	9q34.11	603371	GLE1, GLE1L, LCCS, LCCS1, CAAHD	GLE1, RNA export mediator	GLE1	2733	ENSG00000119392		Lethal congenital contracture syndrome 1, 253310 (3), Autosomal recessive; Congenital arthrogryposis with anterior horn cell disease, 611890 (3), Autosomal recessive	Gle1 (MGI:1921662)
chr9	128552587	128633662	9q33-q34	9q34.11	182810	SPTAN1, NEAS, DEE5, HMND11, DEVEP, SPG91	Spectrin, alpha, nonerythrocytic-1 (alpha-fodrin)	SPTAN1	6709	ENSG00000197694		Developmental delay with or without epilepsy, 620540 (3), Autosomal dominant; Developmental and epileptic encephalopathy 5, 613477 (3), Autosomal dominant; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, 620538 (3), Autosomal dominant; Neuronopathy, distal hereditary motor, autosomal dominant 11, 620528 (3), Autosomal dominant	Sptan1 (MGI:98386)
chr9	128633653	128684460	9q34.11	9q34.11	613363	WDR34, SRTD11	WD repeat-containing protein 34	DYNC2I2	89891	ENSG00000119333		Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3), Autosomal recessive	Dync2i2 (MGI:1919070)
chr9	128683424	128696396	9q34	9q34.11	600960	SET, MRD58	SET gene	SET	6418	ENSG00000119335	fused with CAIN in acute undifferentiated leukemia	Intellectual developmental disorder, autosomal dominant 58, 618106 (3), Autosomal dominant	Set (MGI:1860267)
chr9	128702503	128720916	9q34.11	9q34.11	610714	PKN3	Protein kinase N3	PKN3	29941	ENSG00000160447			Pkn3 (MGI:2388285)
chr9	128729786	128772486	9q34.11	9q34.11	617764	ZER1, ZYG11BL, C9orf60	Zyg11-related cell cycle regulator	ZER1	10444	ENSG00000160445			Zer1 (MGI:2442511)
chr9	128787253	128810430	9q34.11	9q34.11	616218	TBC1D13	TBC1 domain family, member 13	TBC1D13	54662	ENSG00000107021			Tbc1d13 (MGI:2385326)
chr9	128818500	128822676	9q34.1	9q34.11	600440	ENDOG	Endonuclease G	ENDOG	2021	ENSG00000167136			Endog (MGI:1261433)
chr9	128819651	128829794	9q34.11	9q34.11	617614	SPOUT1, CENP32, C9orf114	SPOUT domain-containing methyltransferase 1	SPOUT1	51490	ENSG00000198917			Spout1 (MGI:106544)
chr9	128832942	128882523	9q34.11	9q34.11	600547	KYAT1, CCBL1, KAT1	Kynurenine aminotransferase 1	KYAT1	883	ENSG00000171097			Kyat1 (MGI:1917516)
chr9	128882133	128918039	9q34.13	9q34.11	608360	LRRC8A, KIAA1437, AGM5	Leucine-rich repeat-containing 8A	LRRC8A	56262	ENSG00000136802	mutation identified in 1 AGM5 patient	?Agammaglobulinemia 5, 613506 (3), Autosomal dominant	Lrrc8a (MGI:2652847)
chr9	128920982	128942041	9q34.11	9q34.11	620042	PHYHD1	Phytanoyl-CoA dioxygenase domain-containing protein 1	PHYHD1	254295	ENSG00000175287			Phyhd1 (MGI:3612860)
chr9	128945530	128947603	9q34.11	9q34.11	610746	DOLK, TMEM15, DK1, SEC59, KIAA1094, CDG1M	Dolichol kinase	DOLK	22845	ENSG00000175283		Congenital disorder of glycosylation, type Im, 610768 (3), Autosomal recessive	Dolk (MGI:2677836)
chr9	128947699	129007096	9q34.11	9q34.11	615587	NUP188, KIAA1069, SANDSTEF	Nucleoporin, 188kD	NUP188	23511	ENSG00000095319		Sandestig-Stefanova syndrome, 618804 (3), Autosomal recessive	Nup188 (MGI:2446190)
chr9	129007036	129028331	9q34.11	9q34.11	609288	SH3GLB2, KIAA1848	SH3 domain, GRB2-like, endophilin B2	SH3GLB2	56904	ENSG00000148341			Sh3glb2 (MGI:2385131)
chr9	129036626	129072082	9q34.11	9q34.11	616774	MIGA2, FAM73B, C9orf54	Mitoguardin 2	MIGA2	84895	ENSG00000148343			Miga2 (MGI:1922035)
chr9	129081111	129090438	9q34.1	9q34.11	614516	DOLPP1, LSFR2	Dolichyl pyrophosphate phosphatase 1	DOLPP1	57171	ENSG00000167130			Dolpp1 (MGI:1914093)
chr9	129094794	129110793	9q34.1	9q34.11	600184	CRAT, CAT1, NBIA8	Carnitine acetyltransferase	CRAT	1384	ENSG00000095321	mutation identified in 1 NBIA8 patient	?Neurodegeneration with brain iron accumulation 8, 617917 (3), Autosomal recessive	Crat (MGI:109501)
chr9	129110950	129148946	9q34	9q34.11	600756	PTPA, PPP2R4, PARK25	Protein phosphatase 2 phosphatase activator	PTPA	5524	ENSG00000119383	proximal to ABL	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development, 620482 (3), Autosomal recessive	Ptpa (MGI:1346006)
chr9	129608872	129636135	9q34.11	9q34.11	613560	NTMT1, METTL11A, NRMT, C9orf32	N-terminal X-Pro-Lys N-methyltransferase 1	NTMT1	28989	ENSG00000148335			Ntmt1 (MGI:1913867)
chr9	129634605	129642151	9q34.11	9q34.11	615051	ASB6	Ankyrin repeat- and SOCS box-containing protein 6	ASB6	140459	ENSG00000148331			Asb6 (MGI:1919573)
chr9	129665647	129722674	9q34.1	9q34.11	604675	PRRX2, PRX2	Paired-related homeobox gene 2	PRRX2	51450	ENSG00000167157			Prrx2 (MGI:98218)
chr9	129738349	129753042	9q34.3	9q34.11	605172	PTGES, PGES, PIG12, MGST1L1	Prostaglandin E synthase	PTGES	9536	ENSG00000148344			Ptges (MGI:1927593)
chr9	129803184	129811281	9q34	9q34.11	608050	TOR1B, DQ1	Torsin 1B	TOR1B	27348	ENSG00000136816	centromeric to TOR1A; pseudogene on chr.2		Tor1b (MGI:1353605)
chr9	129812942	129824136	9q34	9q34.11	605204	TOR1A, DYT1, AMC5	Torsin 1A	TOR1A	1861	ENSG00000136827		{Dystonia-1, modifier of} (3); Arthrogryposis multiplex congenita 5, 618947 (3), Autosomal recessive; Dystonia-1, torsion, 128100 (3), Autosomal dominant	Tor1a (MGI:1353568)
chr9	129827290	129835275	9q34.11	9q34.11	619569	C9orf78, TLS1	Chromosome 9 open reading frame 78	C9orf78	51759	ENSG00000136819			BC005624 (MGI:2385132)
chr9	129835458	129881828	9q34.11	9q34.11	615143	USP20, VDU2	Ubiquitin-specific protease 20	USP20	10868	ENSG00000136878			Usp20 (MGI:1921520)
chr9	129887187	130053879	9q34	9q34.11	606191	FNBP1, FBP17	Formin-binding protein 17	FNBP1	23048	ENSG00000187239	fused with MLL in chronic myeloid leukemia		Fnbp1 (MGI:109606)
chr9	130053906	130140164	9q34.11	9q34.11	618490	GPR107, LUSTR1	G protein-coupled receptor 107	GPR107	57720	ENSG00000148358			Gpr107 (MGI:2139054)
chr9	130172404	130237303	9q34	9q34.11	603315	NCS1, FREQ	Neuronal calcium sensor 1	NCS1	23413	ENSG00000107130			Ncs1 (MGI:109166)
chr9	130444707	130501274	9q34.1	9q34.11	603470	ASS1, ASS	Argininosuccinate synthetase 1	ASS1	445	ENSG00000130707	14 pseudogenes on 11 chromosomes, including X and Y and ASSP2 on 6p23-q12	Citrullinemia, 215700 (3), Autosomal recessive	Ass1 (MGI:88090)
chr9	130579577	130638352	9q34.11-q34.12	9q34.11-q34.12	603536	FUBP3, FBP3	FAR upstream element-binding protein 3	FUBP3	8939	ENSG00000107164			Fubp3 (MGI:2443699)
chr9	130664594	130682983	9q34.1	9q34.12	616458	PRDM12, HSAN8	PR domain-containing protein 12	PRDM12	59335	ENSG00000130711		Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive	Prdm12 (MGI:2685844)
chr9	130693760	130704894	9q34.12	9q34.12	602238	EXOSC2, RRP4, SHRF	Exosome component 2	EXOSC2	23404	ENSG00000130713		Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3), Autosomal recessive	Exosc2 (MGI:2385133)
chr9	130713043	130887675	9q34.1	9q34.12	189980	ABL1, CHDSKM	ABL protooncogene 1, nonreceptor tyrosine kinase	ABL1	25	ENSG00000097007	fusion hybrid gene with BCR1 in CML	Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 (3), Somatic mutation; Congenital heart defects and skeletal malformations syndrome, 617602 (3), Autosomal dominant	Abl1 (MGI:87859)
chr9	130892707	130896812	9q34.12	9q34.12	609795	QRFP, P518, 26RFA	Pyroglutamylated FR-amide peptide precursor protein	QRFP	347148	ENSG00000188710			Qrfp (MGI:3630329)
chr9	130902440	130940709	9q34.1	9q34.12	613357	FIBCD1	Fibrinogene C domain-containing protein 1	FIBCD1	84929	ENSG00000130720			Fibcd1 (MGI:2138953)
chr9	131009174	131094473	9q33-q34	9q34.12	604349	LAMC3, OCCM	Laminin, gamma-3	LAMC3	10319	ENSG00000050555		Cortical malformations, occipital, 614115 (3), Autosomal recessive	Lamc3 (MGI:1344394)
chr9	131100001	133100000	9q34.13		171720	ALPQTL1	Alkaline phosphatase, plasma level of, QTL 1		100196909		linkage with rs657152	{Alkaline phosphatase, plasma level of, QTL1}, 171720 (2), ?Autosomal dominant	
chr9	131125586	131234663	9q34.1	9q34.13	114350	NUP214, D9S46E, CAN, CAIN, IIAE9	Nucleoporin, 214kD	NUP214	8021	ENSG00000126883	fused with DEK in AML; fused with ABL1 in T-ALL	Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, somatic, 601626 (3); {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426 (3), Autosomal recessive	Nup214 (MGI:1095411)
chr9	131289723	131309261	9q34.13	9q34.13	618743	PLPP7, PPAPDC3, NET39, C9orf67	Phospholipid phosphatase 7	PLPP7	84814	ENSG00000160539			Plpp7 (MGI:2445183)
chr9	131373651	131500193	9q34.13	9q34.13	619544	PRRC2B, KIAA0515	Proline-rich coiled-coil protein 2B	PRRC2B	84726	ENSG00000288701			Prrc2b (MGI:1923304)
chr9	131502918	131523799	9q34.1	9q34.13	607423	POMT1, MDDGA1, MDDGB1, MDDGC1, LGMDR11	Protein O-mannosyltransferase 1	POMT1	10585	ENSG00000130714		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, 613155 (3), Autosomal recessive	Pomt1 (MGI:2138994)
chr9	131523801	131531263	9q34.2	9q34.13	609328	UCK1	Uridine/cytidine kinase 1	UCK1	83549	ENSG00000130717			Uck1 (MGI:98904)
chr9	131576775	131740076	9q34.3	9q34.13	600303	RAPGEF1, GRF2, C3G	RAP guanine nucleotide exchange factor 1	RAPGEF1	2889	ENSG00000107263			Rapgef1 (MGI:104580)
chr9	131860112	132079867	9q34	9q34.13	605044	MED27, CRSP8, CRAP34, NEDSCAC	Mediator complex subunit 27	MED27	9442	ENSG00000160563		Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, 619286 (3), Autosomal recessive	Med27 (MGI:1916225)
chr9	132161689	132244526	9q34.13	9q34.13	618689	NTNG2, NEDBASH	Netrin G2	NTNG2	84628	ENSG00000196358		Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, 618718 (3), Autosomal recessive	Ntng2 (MGI:2159341)
chr9	132261356	132356744	9q34	9q34.13	608465	SETX, SCAN2, AOA2, ALS4	Senataxin	SETX	23064	ENSG00000107290		Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 (3), Autosomal recessive; Amyotrophic lateral sclerosis 4, juvenile, 602433 (3), Autosomal dominant	Setx (MGI:2443480)
chr9	132375548	132406840	9q34.13	9q34.13	600777	TTF1	Transcription termination factor, RNA polymerase I	TTF1	7270	ENSG00000125482			Ttf1 (MGI:105044)
chr9	132582606	132590252	9q34	9q34.13	605211	BARHL1	BARH-like 1	BARHL1	56751	ENSG00000125492			Barhl1 (MGI:1859288)
chr9	132592997	132669983	9q34.13	9q34.13	616533	DDX31, PPP1R25	DEAD-box helicase 31	DDX31	64794	ENSG00000125485			Ddx31 (MGI:2682639)
chr9	132670035	132694955	9q34.13	9q34.13	604892	GTF3C4, TFIIIC90	General transcription factor 3C, polypeptide 4	GTF3C4	9329	ENSG00000125484			Gtf3c4 (MGI:2138937)
chr9	132725578	132879046	9q34.13	9q34.13	615365	AK8	Adenylate kinase 8	AK8	158067	ENSG00000165695			Ak8 (MGI:1916120)
chr9	132878344	132890314	9q34.13	9q34.13	618552	SPACA9	Sperm acrosome associated 9	SPACA9	11092	ENSG00000165698			Spaca9 (MGI:1917237)
chr9	132891349	132945378	9q34	9q34.13	605284	TSC1, LAM	Hamartin (tuberous sclerosis 1 gene)	TSC1	7248	ENSG00000165699	linked to ABO, ABL	Focal cortical dysplasia, type II, somatic, 607341 (3); Tuberous sclerosis-1, 191100 (3), Autosomal dominant; Lymphangioleiomyomatosis, 606690 (3)	Tsc1 (MGI:1929183)
chr9	132945531	132993434	9q34.13	9q34.13	604383	GFI1B, BDPLT17	Growth factor-independent 1B	GFI1B	8328	ENSG00000165702		Bleeding disorder, platelet-type, 17, 187900 (3), Autosomal recessive, Autosomal dominant	Gfi1b (MGI:1276578)
chr9	133030708	133058503	9q34.2	9q34.13	604890	GTF3C5, TFIIIC63	General transcription factor 3C, polypeptide 5	GTF3C5	9328	ENSG00000148308			Gtf3c5 (MGI:1917489)
chr9	133061981	133071861	9q34.3	9q34.13	114840	CEL, BSSL, CELL, MODY8	Carboxyl-ester lipase (bile-salt stimulated lipase)	CEL	1056	ENSG00000170835		Maturity-onset diabetes of the young, type VIII, 609812 (3), Autosomal dominant	Cel (MGI:88374)
chr9	133097722	133149210	9q34	9q34.13-q34.2	601619	RALGDS	ral guanine nucleotide dissociation stimulator	RALGDS	5900	ENSG00000160271			Ralgds (MGI:107485)
chr9	133152948	133163914	9q34	9q34.2	606074	GBGT1, FS	Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (Forssman synthetase)	GBGT1	26301	ENSG00000148288			Gbgt1 (MGI:2449143)
chr9	133205279	133223255	9q34	9q34.2	604606	OBP2B	Odorant-binding protein 2B	OBP2B	29989	ENSG00000171102			Lcn4,Obp2a (MGI:102668,MGI:2387617)
chr9	133250401	133275201	9q34	9q34.2	110300	ABO	ABO glycosyltransferase	ABO	28	ENSG00000175164	linked to AK1	[Blood group, ABO system], 616093 (3)	Abo (MGI:2135738)
chr9	133328776	133336188	9q34	9q34.2	185642	SURF6	Surfeit-6	SURF6	6838	ENSG00000148296			Surf6 (MGI:98447)
chr9	133338312	133348131	9q34	9q34.2	185641	SURF5	Surfeit-5	MED22	6837	ENSG00000148297			Med22 (MGI:98446)
chr9	133348218	133351426	9q34	9q34.2	185640	RPL7A, SURF3	Ribosomal protein L7a (surfeit-3)	RPL7A	6130	ENSG00000148303	in cluster with SURF1		Rpl7a (MGI:1353472)
chr9	133351758	133356487	9q34	9q34.2	185620	SURF1, CMT4K, MC4DN1	Surfeit-1	SURF1	6834	ENSG00000148290	distal to ABL, CAN	Charcot-Marie-Tooth disease, type 4K, 616684 (3), Autosomal recessive; Mitochondrial complex IV deficiency, nuclear type 1, 220110 (3), Autosomal recessive	Surf1 (MGI:98443)
chr9	133356550	133361158	9q34	9q34.2	185630	SURF2	Surfeit-2	SURF2	6835	ENSG00000148291			Surf2 (MGI:98444)
chr9	133361464	133377949	9q34	9q34.2	185660	SURF4	Surfeit-4	SURF4	6836	ENSG00000148248			Surf4 (MGI:98445)
chr9	133376366	133406096	9q34.2	9q34.2	618530	STKLD1, C9orf96	Serine/threonine kinase-like domain containing protein 1	STKLD1	169436	ENSG00000198870			Stkld1 (MGI:2685557)
chr9	133406058	133418172	9q34	9q34.2	602930	REXO4, XPMC2H	REX4 homolog, 3',5'-exonuclease	REXO4	57109	ENSG00000148300			Rexo4 (MGI:2684957)
chr9	133414337	133459386	9q34	9q34.2	604134	ADAMTS13, VWFCP, TTP	ADAM metallopeptidase domain with thrombospondin type 1 motif, 13	ADAMTS13	11093	ENSG00000160323		Thrombotic thrombocytopenic purpura, hereditary, 274150 (3), Autosomal recessive	Adamts13 (MGI:2685556)
chr9	133459978	133470848	9q34.2	9q34.2	613104	CACFD1, FLOWER, C9orf7	Calcium channel FLOWER-domain containing protein 1	CACFD1	11094	ENSG00000160325			Cacfd1 (MGI:1924317)
chr9	133471094	133479099	9q34	9q34.2	606813	SLC2A6	Solute carrier family 2, member 6	SLC2A6	11182	ENSG00000160326			Slc2a6 (MGI:2443286)
chr9	133514586	133524959	9q34.2	9q34.2	615345	MYMK, TMEM8C	Myomaker	MYMK	389827	ENSG00000187616		Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive	Mymk (MGI:1913389)
chr9	133532164	133575519	9q34.2	9q34.2	612277	ADAMTSL2, KIAA0605, GPHYSD1	ADAMTS-like protein 2	ADAMTSL2	9719	ENSG00000197859		Geleophysic dysplasia 1, 231050 (3), Autosomal recessive	Adamtsl2 (MGI:1925044)
chr9	133636363	133659329	9q34	9q34.2	609312	DBH, ORTHYP1	Dopamine-beta-hydroxylase	DBH	1621	ENSG00000123454	tightly linked to ABO	Orthostatic hypotension 1, due to DBH deficiency, 223360 (3), Autosomal recessive	Dbh (MGI:94864)
chr9	133659418	133739955	9q34.2	9q34.2	604455	SARDH, SARD, SAR	Sarcosine dehydrogenase	SARDH	1757	ENSG00000123453		[Sarcosinemia], 268900 (3), Autosomal recessive	Sardh (MGI:2183102)
chr9	133761894	133992324	9q34	9q34.2	600428	VAV2	VAV guanine nucleotide exchange factor 2	VAV2	7410	ENSG00000160293			Vav2 (MGI:102718)
chr9	134030305	134068548	9q34	9q34.2	601541	RING3L, ORFX	RING3-like gene (open reading frame X)	BRD3	8019	ENSG00000169925			Brd3 (MGI:1914632)
chr9	134135199	134159968	9q34.2	9q34.2	609012	WDR5, BIG3	WD repeat-containing protein 5	WDR5	11091	ENSG00000196363			Wdr5 (MGI:2155884)
chr9	134164440	134164564	9q34.2	9q34.2	601429	RNU6ATAC, U6ATAC	RNA, U6ATAC small nuclear	RNU6ATAC	100151684	ENSG00000221676			
chr9	134326455	134440585	9q34.3	9q34.2	180245	RXRA	Retinoid X receptor, alpha	RXRA	6256	ENSG00000186350	distal to DBH		Rxra (MGI:98214)
chr9	134641803	134844843	9q34.2-q34.3	9q34.3	120215	COL5A1, EDSCL1, FMDMF	Collagen V, alpha-1 polypeptide	COL5A1	1289	ENSG00000130635		Ehlers-Danlos syndrome, classic type, 1, 130000 (3), Autosomal dominant; Fibromuscular dysplasia, multifocal, 619329 (3), Autosomal dominant	Col5a1 (MGI:88457)
chr9	134864144	134887523	9q34	9q34.3	601624	FCN2	Ficolin (collagen/fibrinogen domain-containing lectin) 2	FCN2	2220	ENSG00000160339			Fcnb (MGI:1341158)
chr9	134903232	134917912	9q34	9q34.3	601252	FCN1	Ficolin (collagen/fibrinogen domain-containing) 1	FCN1	2219	ENSG00000085265			Fcnb (MGI:1341158)
chr9	135075505	135121184	Chr.9	9q34.3	605366	OLFM1, AMY	Olfactomedin 1	OLFM1	10439	ENSG00000130558			Olfm1 (MGI:1860437)
chr9	135479066	135488892	9q34.3	9q34.3	614056	PPP1R26, KIAA0649	Protein phosphatase 1, regulatory subunit 26	PPP1R26	9858	ENSG00000196422			Ppp1r26 (MGI:2685193)
chr9	135495181	135499869	9q34.3	9q34.3	614502	PIERCE1, C9orf116	Piercer of microtubule wall 1	PIERCE1	138162	ENSG00000160345			Pierce1 (MGI:1916577)
chr9	135499965	135504673	9q34	9q34.3	611971	MRPS2, COXPD36	Mitochondrial ribosomal protein S2	MRPS2	51116	ENSG00000122140		Combined oxidative phosphorylation deficiency 36, 617950 (3), Autosomal recessive	Mrps2 (MGI:2153089)
chr9	135521440	135526540	9q34	9q34.3	151675	LCN1	Lipocalin 1 (protein migrating faster than albumin, tear prealbumin)	LCN1	3933	ENSG00000160349			
chr9	135546126	135549969	9q34	9q34.3	164320	OBP2A	Odorant-binding protein 2A	OBP2A	29991	ENSG00000122136			Lcn4,Obp2b (MGI:102668,MGI:3651927)
chr9	135561756	135566955	9q34	9q34.3	173310	PAEP, PP14	Progestagen-associated endometrial protein (placental protein 14)	PAEP	5047	ENSG00000122133			
chr9	135623648	135641216	9q34.3	9q34.3	613699	GLT6D1, GT6M7, GLTDC1	Glycosyltransferase 6 domain-containing 1	GLT6D1	360203	ENSG00000204007			Glt6d1 (MGI:1918353)
chr9	135663309	135666961	9q34	9q34.3	612903	LCN9	Lipocalin 9	LCN9	392399	ENSG00000148386			Lcn9 (MGI:1924954)
chr9	135693407	135702112	9q34.3	9q34.3	610224	SOHLH1, NOHLH, TEB2, ODG5, SPGF32	Spermatogenesis- and oogenesis-specific basic helix-loop-helix protein 1	SOHLH1	402381	ENSG00000165643		Ovarian dysgenesis 5, 617690 (3), Autosomal recessive; Spermatogenic failure 32, 618115 (3), Autosomal dominant	Sohlh1 (MGI:2684956)
chr9	135702185	135795502	9q34.3	9q34.3	608167	KCNT1, KIAA1422, DEE14, ENFL5	Potassium channel, subfamily T, member 1	KCNT1	57582	ENSG00000107147		Developmental and epileptic encephalopathy 14, 614959 (3), Autosomal dominant; Epilepsy nocturnal frontal lobe, 5, 615005 (3), Autosomal dominant	Kcnt1 (MGI:1924627)
chr9	135808487	135907546	9q34.3	9q34.3	613774	CAMSAP1, CDCBM12	Calmodulin-regulated spectrin-associated protein 1	CAMSAP1	157922	ENSG00000130559		Cortical dysplasia, complex, with other brain malformations 12, 620316 (3), Autosomal recessive	Camsap1 (MGI:3036242)
chr9	135932969	135961373	9q34.3	9q34.3	608129	UBAC1, GBDR1	Ubiquitin-associated domain-containing protein 1	UBAC1	10422	ENSG00000130560			Ubac1 (MGI:1920995)
chr9	136006537	136095289	9q34.3	9q34.3	615786	NACC2, RBB	NACC family, member 2, BEN and BTB/POZ domains-containing	NACC2	138151	ENSG00000148411			Nacc2 (MGI:1915241)
chr9	136196250	136205128	9q34.3	9q34.3	600577	LHX3, CPHD3	LIM/homeodomain protein LHX3	LHX3	8022	ENSG00000107187	in mouse, close to Notch1; centromeric to ABL	Pituitary hormone deficiency, combined, 3, 221750 (3), Autosomal recessive	Lhx3 (MGI:102673)
chr9	136206333	136245812	9q34.3	9q34.3	612860	QSOX2, SOXN	Quiescin Q6 sulfhydryl oxidase 2	QSOX2	169714	ENSG00000165661			Qsox2 (MGI:2387194)
chr9	136327539	136359601	9q34.3	9q34.3	609491	GPSM1, AGS3	G-protein signaling modulator 1	GPSM1	26086	ENSG00000160360			Gpsm1 (MGI:1915089)
chr9	136359483	136363744	9q34.3	9q34.3	620797	DNLZ, HEP, HEP1	DNL-type zinc finger protein	DNLZ	728489	ENSG00000213221			Dnlz (MGI:106559)
chr9	136363956	136373669	9q34.3	9q34.3	607212	CARD9, CANDF2, IMD103	Caspase recruitment domain-containing protein 9	CARD9	64170	ENSG00000187796		Immunodeficiency 103, susceptibility to fungal infection, 212050 (3), Autosomal recessive	Card9 (MGI:2685628)
chr9	136375571	136400170	9q34.3	9q34.3	602777	SNAPC4, SNAP190, NEDRSO	Small nuclear RNA-activating protein complex, polypeptide 4	SNAPC4	6621	ENSG00000165684		Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, 620515 (3), Autosomal recessive	Snapc4 (MGI:2443935)
chr9	136401922	136410614	9q34.3	9q34.3	618289	ENTR1, SDDAG3	Endosome-associated trafficking regulator 1	ENTR1	10807	ENSG00000165689			Entr1 (MGI:1915362)
chr9	136410658	136423761	9q34.3	9q34.3	613036	PMPCA, KIAA0123, SCAR2	Peptidase, mitochondrial processing, alpha	PMPCA	23203	ENSG00000165688		Spinocerebellar ataxia, autosomal recessive 2, 213200 (3), Autosomal recessive	Pmpca (MGI:1918568)
chr9	136428619	136439845	9q34.3	9q34.3	613037	INPP5E, MORMS, JBTS1, CORS1	Inositol polyphosphate-5-phosphatase, 72kD	INPP5E	56623	ENSG00000148384		Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome, 610156 (3), Autosomal recessive; Joubert syndrome 1, 213300 (3), Autosomal recessive	Inpp5e (MGI:1927753)
chr9	136440105	136484740	9q34.3	9q34.3	612854	SEC16A, SEC16L, KIAA0310, p250	SEC16 homolog A, endoplasmic reticulum export factor	SEC16A	9919	ENSG00000148396			Sec16a (MGI:2139207)
chr9	136494433	136546048	9q34.3	9q34.3	190198	NOTCH1, TAN1, AOS5, AOVD1	Notch receptor 1	NOTCH1	4851	ENSG00000148400		Adams-Oliver syndrome 5, 616028 (3), Autosomal dominant; Aortic valve disease 1, 109730 (3), Autosomal dominant	Notch1 (MGI:97363)
chr9	136658856	136672678	9q34.3	9q34.3	608582	EGFL7	Epidermal growth factor-like 7	EGFL7	51162	ENSG00000172889			Egfl7 (MGI:2449923)
chr9	136670602	136670686	9q34.3	9q34.3	611767	MIR126, MIRN126	Micro RNA 126	MIR126	406913	ENSG00000199161			Mir126a (MGI:2676811)
chr9	136673143	136687457	9q34.3	9q34.3	603100	AGPAT2, LPAAB, BSCL, BSCL1	1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase-beta)	AGPAT2	10555	ENSG00000169692		Lipodystrophy, congenital generalized, type 1, 608594 (3), Autosomal recessive	Agpat2 (MGI:1914762)
chr9	136712572	136724742	9q34.3	9q34.3	614543	DIPK1B, FAM69B	Divergent protein kinase domain 1B	DIPK1B	138311	ENSG00000165716			Dipk1b (MGI:1927576)
chr9	136738170	136742940	9q34	9q34.3	612904	LCN10	Lipocalin 10	LCN10	414332	ENSG00000187922			Lcn10 (MGI:1925000)
chr9	136744017	136748525	9q34	9q34.3	609379	LCN6	Lipocalin 6	LCN6	158062	ENSG00000267206			Lcn6 (MGI:3045364)
chr9	136754386	136758543	9q34	9q34.3	612902	LCN8	Lipocalin 8	LCN8	138307	ENSG00000204001			Lcn8 (MGI:2135945)
chr9	136796338	136807741	9q34.3	9q34.3	615955	CCDC183, KIAA1984	Coiled-coil domain-containing protein 183	CCDC183	84960	ENSG00000213213			Ccdc183 (MGI:1924308)
chr9	136807948	136841187	9q34.3	9q34.3	610615	RABL6, PARF, C9orf86	RAB-like protein 6	RABL6	55684	ENSG00000196642			Rabl6 (MGI:2442633)
chr9	136849409	136851024	9q34.3	9q34.3	610167	PHPT1	Phosphohistidine phosphatase 1	PHPT1	29085	ENSG00000054148			Phpt1 (MGI:1922704)
chr9	136852346	136860799	9q34.3	9q34.3	617208	MAMDC4	MAM domain-containing protein 4	MAMDC4	158056	ENSG00000177943			Mamdc4 (MGI:2685841)
chr9	136862119	136866308	9q34.3	9q34.3	605107	EDF1	Endothelial differentiation-related factor 1	EDF1	8721	ENSG00000107223			Edf1 (MGI:1891227)
chr9	136881958	136926607	9q34.3	9q34.3	601895	TRAF2, TRAP	TNF receptor-associated factor 2	TRAF2	7186	ENSG00000127191			Traf2 (MGI:101835)
chr9	136940435	136944738	9q34.3	9q34.3	609072	FBXW5, FBW5	F-box and WD40 domain protein 5	FBXW5	54461	ENSG00000159069			Fbxw5 (MGI:1354731)
chr9	136945243	136946975	9q34.3	9q34.3	120930	C8G	Complement component-8, gamma polypeptide	C8G	733	ENSG00000176919			C8g (MGI:88237)
chr9	136949197	136956538	9q34	9q34.3	612905	LCN12	Lipocalin 12	LCN12	286256	ENSG00000184925			Lcn12 (MGI:1924951)
chr9	136977504	136981742	9q34.2-q34.3	9q34.3	176803	PTGDS	Prostaglandin D2 synthase (21kD, brain)	PTGDS	5730	ENSG00000107317	distal to ABL		Ptgds (MGI:99261)
chr9	136992422	136993976	9q34.3	9q34.3	616315	PAXX, C9orf142	PAXX nonhomologous end joining factor	PAXX	286257	ENSG00000148362			Paxx (MGI:2442831)
chr9	136994608	136996568	Chr.9	9q34.3	606533	CLIC3	Chloride intracellular channel 3	CLIC3	9022	ENSG00000169583			Clic3 (MGI:1916704)
chr9	137007234	137028922	9q34	9q34.3	600047	ABCA2, ABC2, IDPOGSA	ATP-binding cassette 2	ABCA2	20	ENSG00000107331		Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 (3), Autosomal recessive	Abca2 (MGI:99606)
chr9	137030174	137032088	Chr.9	9q34.3	602030	FUT7	Fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	FUT7	2529	ENSG00000180549			Fut7 (MGI:107692)
chr9	137039463	137046177	Chr.9	9q34.3	605798	NPDC1, CAB1	Neural proliferation, differentiation, and control protein 1	NPDC1	56654	ENSG00000107281			Npdc1 (MGI:1099802)
chr9	137048107	137054061	9q34	9q34.3	602012	ENTPD2, CD39L1	Ectonucleoside triphosphate diphosphohydrolase 2	ENTPD2	954	ENSG00000054179	same cosmid as ABC2		Entpd2 (MGI:1096863)
chr9	137062127	137070557	9q34.3	9q34.3	612057	SAPCD2, C9orf140, P42.3	Suppressor APC domain-containing protein 2	SAPCD2	89958	ENSG00000186193			Sapcd2 (MGI:1919330)
chr9	137086985	137109183	9q34.3	9q34.3	604346	MAN1B1, MRT15	Mannosidase, alpha, class 1B member 1	MAN1B1	11253	ENSG00000177239		Rafiq syndrome, 614202 (3), Autosomal recessive	Man1b1 (MGI:2684954)
chr9	137110546	137118306	9q34.3	9q34.3	610537	DPP7, QPP	Dipeptidyl peptidase VII	DPP7	29952	ENSG00000176978			Dpp7 (MGI:1933213)
chr9	137139154	137168756	9q34.3	9q34.3	138249	GRIN1, NMDAR1, NDHMSR, NDHMSD, DEE101	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	GRIN1	2902	ENSG00000176884		Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3), Autosomal recessive; Developmental and epileptic encephalopathy 101, 619814 (3), Autosomal recessive; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3), Autosomal dominant	Grin1 (MGI:95819)
chr9	137168758	137170051	9q34.3	9q34.3	613505	LRRC26, CAPC	Leucine-rich repeat-containing protein 26	LRRC26	389816	ENSG00000184709			Lrrc26 (MGI:2385129)
chr9	137174784	137188560	Chr.9	9q34.3	606946	ANAPC2, APC2, KIAA1406	Anaphase-promoting complex, subunit 2	ANAPC2	29882	ENSG00000176248			Anapc2 (MGI:2139135)
chr9	137188676	137190366	9q34.3	9q34.3	610882	SSNA1, NA14	Sjogren syndrome nuclear autoantigen 1	SSNA1	8636	ENSG00000176101			Ssna1 (MGI:1915725)
chr9	137191619	137200741	9q34.3	9q34.3	613354	TPRN, C9orf75, DFNB79	Taperin	TPRN	286262	ENSG00000176058		Deafness, autosomal recessive 79, 613307 (3), Autosomal recessive	Tprn (MGI:2139535)
chr9	137204082	137205648	9q34.3	9q34.3	616499	TMEM203	Transmembrane protein 203	TMEM203	94107	ENSG00000187713			Tmem203 (MGI:2443597)
chr9	137205700	137219361	9q34.3	9q34.3	606073	NR1	NADPH-dependent FMN- and FAD-containing oxidoreductase	NDOR1	27158	ENSG00000188566			Ndor1 (MGI:1926047)
chr9	137220259	137223408	9q34.3	9q34.3	618993	RNF208	RING finger protein 208	RNF208	727800	ENSG00000212864			Rnf208 (MGI:1916096)
chr9	137229730	137236555	9q34	9q34.3	609826	SLC34A3, NPTIIC, HHRH	Solute carrier family 34 (sodium/phosphate cotransporter), member 3	SLC34A3	142680	ENSG00000198569		Hypophosphatemic rickets with hypercalciuria, 241530 (3), Autosomal recessive	Slc34a3 (MGI:2159410)
chr9	137241287	137243707	9q34.3	9q34.3	602660	TUBB4B, TUBB2C, LCAEOD	Tubulin, beta-4B	TUBB4B	10383	ENSG00000188229		Leber congenital amaurosis with early-onset deafness, 617879 (3), Autosomal dominant	Tubb4b (MGI:1915472)
chr9	137255327	137273542	9q34	9q34.3	611180	NELFB, COBRA1, KIAA1182	Negative elongation factor complex, member B	NELFB	25920	ENSG00000188986			Nelfb (MGI:1931035)
chr9	137299631	137302271	9q34.3	9q34.3	619987	NRARP	Notch-regulated ankyrin repeat-containing protein	NRARP	441478	ENSG00000198435			Nrarp (MGI:1914372)
chr9	137306896	137423162	9q34.3	9q34.3	620859	EXD3	Exonuclease 3'-to-5' domain-containing protein 3	EXD3	54932	ENSG00000187609			
chr9	137423393	137434406	9q34.3	9q34.3	611255	NOXA1	NADPH oxidase activator 1	NOXA1	10811	ENSG00000188747			Noxa1 (MGI:2449980)
chr9	137434364	137441357	9q34	9q34.3	616748	ENTPD8	Ectonucleoside triphosphate diphosphohydrolase 8	ENTPD8	377841	ENSG00000188833			Entpd8 (MGI:1919340)
chr9	137447570	137459334	9q34.3	9q34.3	608137	NSMF, NELF, HH9	NMDA receptor synaptonuclear signaling and neuronal migration factor	NSMF	26012	ENSG00000165802		Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3), Autosomal dominant	Nsmf (MGI:1861755)
chr9	137459952	137550402	9q34.3	9q34.3	612122	PNPLA7	Patatin-like phospholipase domain containing 7	PNPLA7	375775	ENSG00000130653			Pnpla7 (MGI:2385325)
chr9	137551879	137552555	9q34.3	9q34.3	611846	MRPL41, MRPL27	Mitochondrial ribosomal protein L41	MRPL41	64975	ENSG00000182154			Mrpl41 (MGI:1333816)
chr9	137554444	137578925	9q34.3	9q34.3	613210	DPH7, WDR85	Diphthamide biosynthesis 7	DPH7	92715	ENSG00000148399			Dph7 (MGI:1914478)
chr9	137582081	137590512	9q34.3	9q34.3	611424	ZMYND19, MIZIP	Zinc finger MYND domain-containing protein 19	ZMYND19	116225	ENSG00000165724			Zmynd19 (MGI:1914437)
chr9	137605686	137615360	9q34.3	9q34.3	619768	ARRDC1	Arrestin domain-containing protein 1	ARRDC1	92714	ENSG00000197070			Arrdc1 (MGI:2446136)
chr9	137619005	137836127	9q34.3	9q34.3	607001	EHMT1, EUHMTASE1, KMT1D, DEL9q34, KLEFS1	Euchromatic histone methyltransferase 1	EHMT1	79813	ENSG00000181090		Kleefstra syndrome 1, 610253 (3), Autosomal dominant	Ehmt1 (MGI:1924933)
chr9	137877782	138124619	9q34	9q34.3	601012	CACNA1B, CACNL1A5, NEDNEH	Calcium channel, voltage-dependent, L type, alpha 1B subunit	CACNA1B	774	ENSG00000148408		Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 (3), Autosomal recessive	Cacna1b (MGI:88296)
chr9	1	138394717	Chr.9		187290	H142T	Temperature sensitivity complementation, H142		8023				
chr10	1	39800001	10p		603188	BMIQ8	Body mass index quantitative trait locus 8		56694			{Obesity, susceptibility to, BMIQ8}, 603188 (2)	
chr10	1	39800001	10p		607499	BULN	Bulimia nervosa, susceptibility to		337893		between D10S1430 and D10S1423	{Bulimia nervosa, susceptibility to}, 607499 (2), Multifactorial	
chr10	1	6600000	10p15		611384	PFFE1	Plasmodium falciparum fever episodes QTL1		101910199			{Plasmodium falciparum fever episodes QTL1}, 611384 (2)	
chr10	1	51100000	10pter-q11		601188	ST12, PAC1	Suppression of tumorigenicity 12, prostate					Prostate adenocarcinoma, 601188 (2)	
chr10	46455	76621	10p15.3	10p15.3	616768	TUBB8, OZEMA2	Tubulin, beta 8	TUBB8	347688	ENSG00000261456		Oocyte/zygote/embryo maturation arrest 2, 616780 (3), Autosomal recessive, Autosomal dominant	
chr10	130088	254637	10p14	10p15.3	608668	ZMYND11, BS69, BRAM1, MRD30	Zinc finger MYND domain-containing protein 11	ZMYND11	10771	ENSG00000015171		Intellectual developmental disorder, autosomal dominant 30, 616083 (3), Autosomal dominant	Zmynd11 (MGI:1913755)
chr10	274201	689668	10p15.3	10p15.3	611380	DIP2C, KIAA0934	Disco-interacting protein 2 homolog C	DIP2C	22982	ENSG00000151240			Dip2c (MGI:1920179)
chr10	806914	988341	10p15.3	10p15.3	616513	LARP4B, LARP5, KIAA0217	La ribonucleoprotein 4B	LARP4B	23185	ENSG00000107929			Larp4b (MGI:106330)
chr10	988434	1019932	10p15.3	10p15.3	619169	GTPBP4, CRFG	CTP-binding protein 4	GTPBP4	23560	ENSG00000107937			Gtpbp4 (MGI:1916487)
chr10	1018910	1025859	10p15	10p15.3	615389	IDI2, IPPI2	Isopentenyl-diphosphate delta isomerase 2	IDI2	91734	ENSG00000148377			Idi2,Idi2l (MGI:2444315,MGI:3704398)
chr10	1022637	1044201	10p15	10p15.3	615391	IDI2AS1	IDI2 antisense RNA 1, noncoding	IDI2-AS1	55853	ENSG00000232656			
chr10	1039152	1056704	10p15	10p15.3	604055	IDI1	Isopentenyl-diphosphate delta isomerase 1	IDI1	3422	ENSG00000067064			Idi1,Idi1-ps1 (MGI:2442264,MGI:3649894)
chr10	1056385	1132372	16q12.1	10p15.3	618586	WDR37, NOCGUS	WD repeat-containing protein 37	WDR37	22884	ENSG00000047056		Neurooculocardiogenitourinary syndrome, 618652 (3), Autosomal dominant	Wdr37 (MGI:1920393)
chr10	1177313	1737525	10p15	10p15.3	602065	ADARB2, RED2	Adenosine deaminase, RNA-specific, B2 (homolog of rat BLUE)	ADARB2	105	ENSG00000185736			Adarb2 (MGI:2151118)
chr10	3067548	3136805	10p15.3-p15.2	10p15.2	171840	PFKP	Phosphofructokinase, platelet type	PFKP	5214	ENSG00000067057			Pfkp (MGI:1891833)
chr10	3137727	3172841	10p15.2	10p15.2	618211	PITRM1, MP1, PREP, SCAR30	Pitrilysin metallopeptidase 1	PITRM1	10531	ENSG00000107959		Spinocerebellar ataxia, autosomal recessive 30, 619405 (3), Autosomal recessive	Pitrm1 (MGI:1916867)
chr10	3775996	3785209	10p15	10p15.2	602053	KLF6, COPEB, BCD1, ZF9	Kruppel-like factor-6	KLF6	1316	ENSG00000067082		Gastric cancer, somatic, 613659 (3); Prostate cancer, somatic, 176807 (3)	Klf6 (MGI:1346318)
chr10	3800001	6600000	10p15.1		612594	MS2	Multiple sclerosis, susceptibility to, 2		100271694		associated with rs12722489 and rs2104286	{Multiple sclerosis, susceptibility to, 2}, 612594 (2)	
chr10	4824973	4873237	10p15.1	10p15.1	617451	AKR1E2, HTSP, TAKR	Aldo-keto reductase family 1, member E2	AKR1E2	83592	ENSG00000165568			Akr1e1 (MGI:1914758)
chr10	4963415	4983283	10p15-p14	10p15.1	600449	AKR1C1, DDH1, DD1, HAKRC	Aldo-keto reductase family 1, member 1 (dihydrodiol dehydrogenase, type 1)	AKR1C1	1645	ENSG00000187134			Akr1c14,Akr1c20,Akr1c21,Akr1c6,Akr1cl (MGI:1918111,MGI:1924587,MGI:1933427,MGI:2145458,MGI:2151104)
chr10	4987775	5018000	10p15-p14	10p15.1	600450	AKR1C2, DDH2, DD2, HAKRD, SRXY8	Aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase, type II)	AKR1C2	1646	ENSG00000151632		46XY sex reversal 8, 614279 (3), Autosomal recessive	Akr1c14,Akr1c20,Akr1c21,Akr1c6,Akr1cl (MGI:1918111,MGI:1924587,MGI:1933427,MGI:2145458,MGI:2151104)
chr10	5048781	5107686	10p15-p14	10p15.1	603966	AKR1C3, HAKRB, DD3	Aldo-keto reductase family 1, member C3	AKR1C3	8644	ENSG00000196139			Akr1c14,Akr1c18,Akr1c20,Akr1c6,Akr1cl (MGI:1918111,MGI:1933427,MGI:2145420,MGI:2145458,MGI:2151104)
chr10	5196837	5218949	10p15-p14	10p15.1	600451	AKR1C4, CHDR, CDR, HAKRA, DD4	Aldo-keto reductase family 1, member C4 (chlordecone reductase)	AKR1C4	1109	ENSG00000198610		{46XY sex reversal 8, modifier of}, 614279 (3), Autosomal recessive	Akr1c12,Akr1c13,Akr1c14,Akr1c19,Akr1c20,Akr1c21,Akr1c6 (MGI:1351661,MGI:1351662,MGI:1924587,MGI:1933427,MGI:2145458,MGI:2151104,MGI:2653678)
chr10	5364966	5374692	10p15.1	10p15.1	605901	UCN3, SCP	Urocortin III	UCN3	114131	ENSG00000178473			Ucn3 (MGI:1932970)
chr10	5393101	5404828	10p15.1	10p15.1	620835	TUBAL3	Tubulin, alpha-like 3	TUBAL3	79861	ENSG00000178462			Tubal3 (MGI:3588215)
chr10	5412557	5459056	10p15.1	10p15.1	606450	NET1	Neuroepithelial cell transforming gene 1	NET1	10276	ENSG00000173848			Net1 (MGI:1927138)
chr10	5498697	5499570	10p15.1	10p15.1	605183	CALML5	Calmodulin-like 5	CALML5	51806	ENSG00000178372			Calm4,Calm5 (MGI:1931464,MGI:3511177)
chr10	5524961	5526771	10pter-p13	10p15.1	114184	CALML3	Calmodulin-like 3	CALML3	810	ENSG00000178363			Calml3 (MGI:1917655)
chr10	5594984	5596118	10p15.1	10p15.1	618938	LASTR, LINC02657	Long noncoding RNA associated with SART3 regulation of splicing	LASTR	105376382	ENSG00000242147			
chr10	5638867	5666595	10p15.1	10p15.1	615055	ASB13	Ankyrin repeat- and SOCS box-containing protein 13	ASB13	79754	ENSG00000196372			Asb13 (MGI:2145525)
chr10	5765223	5813434	10p15	10p15.1	600767	GDI2, RABGDIB	GDP dissociation inhibitor 2	GDI2	2665	ENSG00000057608	pseudogene on chr.7		Gdi2 (MGI:99845)
chr10	5861616	5889893	10p15.1	10p15.1	618017	ANKRD16	Ankyrin repeat domain-containing protein 16	ANKRD16	54522	ENSG00000134461			Ankrd16 (MGI:2444796)
chr10	5889572	5937593	10p15.1	10p15.1	607222	FBXO18, FBH1, FBX18	F-box only protein 18	FBH1	84893	ENSG00000134452			Fbh1 (MGI:1354699)
chr10	5948900	5978741	10p15-p14	10p15.1	601070	IL15RA	Interleukin-15 receptor, alpha	IL15RA	3601	ENSG00000134470			Il15ra (MGI:104644)
chr10	6010689	6062367	10p15.1	10p15.1	147730	IL2RA, CD25, IL2R, IDDM10, IMD41	Interleukin-2 receptor, alpha	IL2RA	3559	ENSG00000134460		Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3), Autosomal recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)	Il2ra (MGI:96549)
chr10	6089034	6117447	10p15.1	10p15.1	606935	RBM17, SPF45	RNA binding motif protein 17	RBM17	84991	ENSG00000134453			Rbm17 (MGI:1924188)
chr10	6144921	6326637	10p15-p14	10p15.1	605319	PFKFB3, IPFK2	6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3	PFKFB3	5209	ENSG00000170525			Pfkfb3 (MGI:2181202)
chr10	6394097	6580646	10p15	10p15.1	600448	PRKCQ	Protein kinase C, theta	PRKCQ	5588	ENSG00000065675			Prkcq (MGI:97601)
chr10	6600001	29300000	10p14-p12		604401	ARVD6	Arrhythmogenic right ventricular dysplasia 6		27038			Arrhythmogenic right ventricular dysplasia 6, 604401 (2)	
chr10	6600001	12200000	10p14		612230	CRCS5	Colorectal cancer, susceptibility to, 5		100188887		associated with rs10795668	{Colorectal cancer, susceptibility to, 5}, 612230 (2)	
chr10	6600001	17300000	10p14-p13		601362	DGCR2, DGS2	DiGeorge syndrome chromosome region-2		8026			DiGeorge syndrome/velocardiofacial syndrome complex-2, 601362 (2)	
chr10	7158624	7411490	10p14	10p14	615392	SFMBT2, KIAA1617	SCM-like protein with 4 MBT domains 2	SFMBT2	57713	ENSG00000198879			Sfmbt2 (MGI:2447794)
chr10	7559270	7666966	10p15	10p14	609783	ITIH5	Inter-alpha-trypsin inhibitor, heavy chain 5	ITIH5	80760	ENSG00000123243			Itih5 (MGI:1925751)
chr10	7703316	7749520	10p15	10p14	146640	ITIH2	Inter-alpha (globulin) inhibitor, H2 polypeptide	ITIH2	3698	ENSG00000151655			Itih2 (MGI:96619)
chr10	7750962	7787993	10p15-p14	10p14	601720	KIN, KIN17, BTCD	Antigenic determinant of recombination protein A, mouse, homolog of	KIN	22944	ENSG00000151657			Kin (MGI:96676)
chr10	7788177	7807801	10p15.1	10p14	108729	ATP5F1C, ATP5C1, ATP5CL1, ATP5C	ATP synthase F1, subunit gamma	ATP5F1C	509	ENSG00000165629			Atp5f1c (MGI:1261437)
chr10	7818505	8016631	10p14	10p14	606576	TAF3, TAFII140	TAF3 RNA polymerase II, TATA box-binding protein-associated factor, 140kD	TAF3	83860	ENSG00000165632			Taf3 (MGI:2388097)
chr10	8045333	8075198	10p15	10p14	131320	GATA3, HDR, HDRS	GATA-binding protein-3	GATA3	2625	ENSG00000107485		Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3), Autosomal dominant	Gata3 (MGI:95663)
chr10	10462550	11336675	10p13	10p14	602538	CELF2, CUGBP2, ETR3, BRUNOL3, DEE97	CUGbp- and ELAV-like family, member 2	CELF2	10659	ENSG00000048740		Developmental and epileptic encephalopathy 97, 619561 (3), Autosomal dominant	Celf2 (MGI:1338822)
chr10	11460510	11611650	10p13	10p14	605405	USP6NL, RNTRE	USP6 N-terminal-like	USP6NL	9712	ENSG00000148429			Usp6nl (MGI:2138893)
chr10	11742382	11764070	10p14	10p14	620756	ECHDC3	Enoyl coenzyme A hydratase domain-containing protein 3	ECHDC3	79746	ENSG00000134463			Echdc3 (MGI:1915106)
chr10	11920022	12043170	10p15-p13	10p14	605529	UPF2, RENT2	UPF2 regulator of nonsense-mediated mRNA decay	UPF2	26019	ENSG00000151461			Upf2 (MGI:2449307)
chr10	12068954	12123221	10p14	10p14	614984	DHTKD1, KIAA1630, AAKAD, CMT2Q	Dehydrogenase E1 and transketolase domains-containing protein 1	DHTKD1	55526	ENSG00000181192	mutation identified in 1 CMT2Q family	?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3), Autosomal dominant; Alpha-aminoadipic and alpha-ketoadipic aciduria, 204750 (3), Autosomal recessive	Dhtkd1 (MGI:2445096)
chr10	12129641	12169958	10p14	10p14	618271	SEC61A2	SEC61 translocon, alpha-2 subunit	SEC61A2	55176	ENSG00000065665			Sec61a2 (MGI:1931071)
chr10	12165330	12195891	10p14	10p14	609230	NUDT5, YSA1H	Nudix hydrolase 5	NUDT5	11164	ENSG00000165609			Nudt5 (MGI:1858232)
chr10	12196188	12250589	10p14-p13	10p14-p13	617708	CDC123	Cell division cycle 123	CDC123	8872	ENSG00000151465			Cdc123 (MGI:2138811)
chr10	12200001	17300000	10p13		606187	AD7	Alzheimer disease 7		114475		max LOD at D10S1423	Alzheimer disease-7, 606187 (2)	
chr10	12200001	17300000	10p13		609888	LPRS	Leprosy, paucibacillary type, susceptibility to		81861			{Leprosy, paucibacillary type, susceptibility to}, 609888 (2)	
chr10	12349547	12835545	10p13	10p13	607957	CAMK1D, CKLIK	Calcium/calmodulin-dependent protein kinase I-delta	CAMK1D	57118	ENSG00000183049			Camk1d (MGI:2442190)
chr10	12896625	13099989	10p13	10p13	620579	CCDC3, FAVINE	Coiled-coil domain-containing protein 3	CCDC3	83643	ENSG00000151468			Ccdc3 (MGI:1921436)
chr10	13100082	13138308	10p15-p14	10p13	602432	OPTN, GLC1E, FIP2, HYPL, NRP, ALS12	Optineurin	OPTN	10133	ENSG00000123240		Glaucoma 1, open angle, E, 137760 (3), Autosomal dominant; Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, 613435 (3), Autosomal recessive, Autosomal dominant; {Glaucoma, normal tension, susceptibility to}, 606657 (3)	Optn (MGI:1918898)
chr10	13161558	13211110	10p13	10p13	609357	MCM10, CNA43, IMD80	Minichromosome maintenance complex component 10	MCM10	55388	ENSG00000065328		Immunodeficiency 80 with or without cardiomyopathy, 619313 (3), Autosomal recessive	Mcm10 (MGI:1917274)
chr10	13277799	13300064	10pter-p11.2	10p13	602026	PHYH, PAHX	Phytanoyl-CoA hydroxylase	PHYH	5264	ENSG00000107537		Refsum disease, 266500 (3), Autosomal recessive	Phyh (MGI:891978)
chr10	13317428	13348293	10p13	10p13	600902	SEPHS1, SPS1	Selenophosphate synthetase 1	SEPHS1	22929	ENSG00000086475			Sephs1 (MGI:1923580)
chr10	13586965	13655929	10p13	10p13	604993	PRPF18, PRP18	Pre-mRNA processing factor 18	PRPF18	8559	ENSG00000165630			Prpf18 (MGI:1914479)
chr10	13643706	14330924	10p13	10p13	616305	FRMD4A, KIAA1294, CCAFCA	FERM domain-containing protein 4A	FRMD4A	55691	ENSG00000151474	mutation identified in 1 CCAFCA family	?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3), Autosomal recessive	Frmd4a (MGI:1919850)
chr10	14819245	14838037	10p13	10p13	611233	ARMETL1, CDNF	Arginine-rich protein mutated in early stage tumors-like 1	CDNF	441549	ENSG00000185267			Cdnf (MGI:3606576)
chr10	14838306	14871741	10p12.3	10p13	610369	HSPA14, HSP70L1	Heat-shock 70kD protein 14	HSPA14	51182	ENSG00000187522			Hspa14 (MGI:1354164)
chr10	14878866	14904315	10p13	10p13	606503	SUV39H2, FLJ23414	Suppressor of variegation 3-9, Drosophila, homolog of, 2	SUV39H2	79723	ENSG00000152455			Suv39h2 (MGI:1890396)
chr10	14897359	14954432	10p	10p13	605988	DCLRE1C, ARTEMIS, SCIDA	DNA cross-link repair protein 1C	DCLRE1C	64421	ENSG00000152457		Severe combined immunodeficiency, Athabascan type, 602450 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive	Dclre1c (MGI:2441769)
chr10	14954228	14988050	10p13	10p13	614174	MEIG1	Meiosis-expressed gene 1, mouse, homolog of	MEIG1	644890	ENSG00000197889			Meig1 (MGI:1202878)
chr10	15097355	15104257	10p13	10p13	606116	RPP38	Ribonuclease P/MRP subunit p38	RPP38	10557	ENSG00000152464			Rpp38 (MGI:2443607)
chr10	15105700	15168693	10p13	10p13	603801	NMT2	N-myristoyltransferase 2	NMT2	9397	ENSG00000152465			Nmt2 (MGI:1202298)
chr10	15513954	15719922	10p13	10p13	604063	ITGA8, RHDA1	Integrin, alpha-8	ITGA8	8516	ENSG00000077943		Renal hypodysplasia/aplasia 1, 191830 (3), Autosomal recessive	Itga8 (MGI:109442)
chr10	15778174	15860507	10p13	10p13	611649	MINDY3, C10orf97, CARP	MINDY lysine-48 deubiquitinase 3	MINDY3	80013	ENSG00000148481			Mindy3 (MGI:1914210)
chr10	16437010	16519020	10p12	10p13	604446	PTER	Phosphotriesterase-related protein	PTER	9317	ENSG00000165983			Pter (MGI:107372)
chr10	16513734	16521879	10p13	10p13	615227	C1QL3, CTRP13, K100	Complement component 1, q subcomponent-like 3	C1QL3	389941	ENSG00000165985			C1ql3 (MGI:2387350)
chr10	16590611	16817424	10p13	10p13	179555	RSU1	Ras suppressor protein 1	RSU1	6251	ENSG00000148484			Rsu1 (MGI:103040)
chr10	16823966	17129811	10p12.1	10p13	602997	CUBN, IFCR, IGS1	Cubilin (intrinsic factor-cobalamin receptor)	CUBN	8029	ENSG00000107611		[Proteinuria, chronic benign], 618884 (3), Autosomal recessive; Imerslund-Grasbeck syndrome 1, 261100 (3), Autosomal recessive	Cubn (MGI:1931256)
chr10	17137336	17201672	10p15.1	10p13	602478	TRDMT1, DMNT2	tRNA aspartic acid methyltransferase 1 (DNA methyltransferase 2)	TRDMT1	1787	ENSG00000107614			Trdmt1 (MGI:1274787)
chr10	17214239	17229985	10p13	10p13	619982	VIMAS1	Vimentin antisense RNA 1	VIM-AS1	100507347	ENSG00000229124			
chr10	17228241	17237593	10p13	10p13	193060	VIM, CTRCT30	Vimentin	VIM	7431	ENSG00000026025		Cataract 30, pulverulent, 116300 (3), Autosomal dominant	Vim (MGI:98932)
chr10	17315421	17454595	10p12.31	10p12.33	610139	ST8SIA6, SIAT8F	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	ST8SIA6	338596	ENSG00000148488			St8sia6 (MGI:2386797)
chr10	17589032	17617374	10p12.33	10p12.33	610467	HACD1, PTPLA, CMYO11	3-hydroxyacyl-CoA dehydratase 1	HACD1	9200	ENSG00000165996		Congenital myopathy 11, 619967 (3), Autosomal recessive	Hacd1 (MGI:1353592)
chr10	17644151	17716824	10p14-p13	10p12.33	601899	STAM	Signal transducing adaptor molecule	STAM	8027	ENSG00000136738			Stam (MGI:1329014)
chr10	17809348	17911164	10p13	10p12.33	153618	MRC1, MMR	Mannose receptor, C type 1	MRC1	4360	ENSG00000260314			Mrc1 (MGI:97142)
chr10	17951918	18043285	10p12.33	10p12.33	608734	SLC39A12, ZIP12	Solute carrier family 39 (zinc transporter), member 12	SLC39A12	221074	ENSG00000148482			Slc39a12 (MGI:2139274)
chr10	18140424	18543557	10p12	10p12.33-p12.31	600003	CACNB2	Calcium channel, voltage-dependent, beta 2 subunit	CACNB2	783	ENSG00000165995		Brugada syndrome 4, 611876 (3), Autosomal dominant	Cacnb2 (MGI:894644)
chr10	18545561	18659327	10p12.31	10p12.31	617199	NSUN6, MRT82	NOP2/SUN RNA methyltransferase family, member 6	NSUN6	221078	ENSG00000241058		Intellectual developmental disorder, autosomal recessive 82, 620779 (3), Autosomal recessive	Nsun6 (MGI:1921705)
chr10	18659431	18681639	10p12.31	10p12.31	608909	ARL5B, ARL8	ADP ribosylation factor-like GTPase 5B	ARL5B	221079	ENSG00000165997			Arl5b (MGI:1923119)
chr10	19046927	19734478	10p12.31	10p12.31	617715	MALRD1, C10orf112, DIET1	MAM and LDL receptor class A domain-containing protein 1	MALRD1	340895	ENSG00000204740			Malrd1 (MGI:1928271)
chr10	19816432	20289856	10p12.3	10p12.31	606827	PLXDC2, TEM7R	Plexin domain containing 2	PLXDC2	84898	ENSG00000120594			Plxdc2 (MGI:1914698)
chr10	20779973	21293050	10p13-p12	10p12.31	605491	NEBL	Nebulette	NEBL	10529	ENSG00000078114			Nebl (MGI:1921353)
chr10	21496562	21496641	10p12.31	10p12.31	615202	MIR1915	Micro RNA 1915	MIR1915	100302129	ENSG00000222071			
chr10	21533756	21743630	10p12	10p12.31	602409	AF10	ALL1 fused gene from chromosome 10	MLLT10	8028	ENSG00000078403	fuses with MLL and HEAB	Leukemia, acute myeloid, 601626 (3), Somatic mutation, Autosomal dominant	Mllt10 (MGI:1329038)
chr10	21756548	22003730	10p12.31	10p12.31	611207	DNAJC1, HTJ1	DNAJ/HSP40 homolog, subfamily C, member 1	DNAJC1	64215	ENSG00000136770			Dnajc1 (MGI:103268)
chr10	22208475	22218015	10p12.3	10p12.31	613249	EBLN1	Endogenous Borna-like N element-containing protein 1	EBLN1	340900	ENSG00000223601			
chr10	22316388	22320306	10p12.2	10p12.2	616700	COMMD3	COMM domain-containing protein 3	COMMD3	23412	ENSG00000148444			Commd3 (MGI:88218)
chr10	22321099	22331706	10p13	10p12.2	164831	BMI1	Oncogene BMI-1	BMI1	648	ENSG00000168283			Bmi1 (MGI:88174)
chr10	22345496	22417610	10p12-p11.2	10p12.2	605730	SPAG6	Sperm-associated antigen 6	SPAG6	9576	ENSG00000077327			Spag6,Spag6l (MGI:1354388,MGI:3040687)
chr10	22534854	22714578	10p12.2	10p12.2	603140	PIP4K2A, PI5P4KA, PIP5K2A	Phosphatidylinositol 5-phosphate 4-kinase, type II, alpha	PIP4K2A	5305	ENSG00000150867			Pip4k2a (MGI:1298206)
chr10	22928053	23038523	10p12.23	10p12.2	611226	ARMC3	Armadillo repeat-containing protein 3	ARMC3	219681	ENSG00000165309			Armc3 (MGI:1918132)
chr10	23095579	23122013	10p12	10p12.2	613782	MSRB2, CBS1	Methionine sulfoxide reductase B2	MSRB2	22921	ENSG00000148450			Msrb2 (MGI:1923717)
chr10	23192312	23194245	10p12.3	10p12.2	607194	PTF1A, PACA, PAGEN2	Pancreas transcription factor 1, alpha subunit	PTF1A	256297	ENSG00000168267		Pancreatic and cerebellar agenesis, 609069 (3), Autosomal recessive; Pancreatic agenesis 2, 615935 (3), Autosomal recessive	Ptf1a (MGI:1328312)
chr10	23439075	23442377	10p12.2	10p12.2	612022	OTUD1, DUBA7	OTU domain-containing protein 1	OTUD1	220213	ENSG00000165312			Otud1 (MGI:1918448)
chr10	23694727	24547843	10p12.2	10p12.2-p12.1	617367	KIAA1217, SKT	KIAA1217 gene	KIAA1217	56243	ENSG00000120549			Etl4 (MGI:95454)
chr10	24583614	24723887	10p12.3	10p12.1	609870	ARHGAP21, KIAA1424	GTPase-activating protein, Rho, 21	ARHGAP21	57584	ENSG00000107863	pseudogene on chr.6		Arhgap21 (MGI:1918685)
chr10	24848614	24952606	10p12.1	10p12.1	610751	PRTFDC1	Phosphoribosyl transferase domain-containing protein 1	PRTFDC1	56952	ENSG00000099256			
chr10	24952364	25026664	10p12.1	10p12.1	611260	THNSL1, TSH1	Threonine synthase-like 1	THNSL1	79896	ENSG00000185875			Thnsl1 (MGI:2139347)
chr10	24981985	25062327	10p12.1	10p12.1	611025	ENKUR, C10orf63	Enkurin, TRPC channel-interacting protein	ENKUR	219670	ENSG00000151023			Enkur (MGI:1918483)
chr10	25175001	25602229	10p12.1	10p12.1	614573	GPR158, KIAA1136	G protein-coupled receptor 158	GPR158	57512	ENSG00000151025			Gpr158 (MGI:2441697)
chr10	25934229	26212532	10p11.1	10p12.1	606808	MYO3A, DFNB30, DFNA90	Myosin IIIA	MYO3A	53904	ENSG00000095777		Deafness, autosomal recessive 30, 607101 (3), Autosomal recessive; Deafness, autosomal dominant 90, 620722 (3), Autosomal dominant	Myo3a (MGI:2183924)
chr10	26216372	26304558	10p11.23	10p12.1	138275	GAD2	Glutamate decarboxylase-2, pancreas	GAD2	2572	ENSG00000136750			Gad2 (MGI:95634)
chr10	26438341	26567803	10p12.1	10p12.1	609036	APBB1IP, RIAM, RARP1	APBB1-interacting protein	APBB1IP	54518	ENSG00000077420			Apbb1ip (MGI:1861354)
chr10	26697701	26746798	10p12.1	10p12.1	607429	PDSS1, TPT, COQ1, COQ10D2	Prenyl diphosphate synthase, subunit 1	PDSS1	23590	ENSG00000148459		Coenzyme Q10 deficiency, primary, 2, 614651 (3), Autosomal recessive	Pdss1 (MGI:1889278)
chr10	26746596	26860958	10p11.2	10p12.1	603050	ABI1	ABL-interactor 1	ABI1	10006	ENSG00000136754			Abi1 (MGI:104913)
chr10	26947582	27100494	10p12.1	10p12.1	610855	ANKRD26, KIAA1074, THC2	Ankyrin repeat domain-containing protein 26	ANKRD26	22852	ENSG00000107890		Thrombocytopenia 2, 188000 (3), Autosomal dominant	Ankrd26 (MGI:1917887)
chr10	27110111	27154384	10p14	10p12.1	607472	YME1L1, YME1L, PAMP, OPA11	Mitochondrial escape 1-like 1	YME1L1	10730	ENSG00000136758	mutation identified in1 OPA11 family	?Optic atrophy 11, 617302 (3), Autosomal recessive	Yme1l1 (MGI:1351651)
chr10	27154479	27187953	10p12.1	10p12.1	608221	MASTL, FLJ14813, GWL	Microtubule-associated serine/threonine kinase-like	MASTL	84930	ENSG00000120539			Mastl (MGI:1914371)
chr10	27182838	27242111	10p12.1	10p12.1	616618	ACBD5, KIAA1996, RDLKD	Acyl-CoA-binding domain-containing protein 5	ACBD5	91452	ENSG00000107897		Retinal dystrophy with leukodystrophy, 618863 (3), Autosomal recessive	Acbd5 (MGI:1921409)
chr10	27397121	27414347	10p12.1	10p12.1	611791	PTCHD3	Patched domain-containing protein 3	PTCHD3	374308	ENSG00000182077			Ptchd3 (MGI:1921925)
chr10	27504304	27542239	10p12.1	10p12.1	602207	RAB18, WARBM3	Ras-associated protein RAB18	RAB18	22931	ENSG00000099246		Warburg micro syndrome 3, 614222 (3), Autosomal recessive	Rab18 (MGI:102790)
chr10	27672874	27745819	10p12.1	10p12.1	601332	MKX, IFRX, IRXL1	Mohawk homeobox	MKX	283078	ENSG00000150051			Mkx (MGI:2687286)
chr10	27812168	27999675	10p12.1	10p12.1	615408	ODAD2, ARMC4, CILD23	Outer dynein arm docking complex subunit 2	ODAD2	55130	ENSG00000169126		Ciliary dyskinesia, primary, 23, 615451 (3), Autosomal recessive	Odad2 (MGI:1922184)
chr10	28050993	28335203	10p12.1	10p12.1	610973	MPP7	Membrane protein, palmitoylated 7	MPP7	143098	ENSG00000150054			Mpp7 (MGI:1922989)
chr10	28532779	28623112	10p12.1-p11.2	10p12.1	615049	WAC, KIAA1844, DESSH	WW domain-containing adaptor with coiled-coil region	WAC	51322	ENSG00000095787		Desanto-Shinawi syndrome, 616708 (3), Autosomal dominant	Wac (MGI:2387357)
chr10	28677521	28682932	10p12.3-p11.2	10p12.1	604444	BAMBI, NMA	BMP and activin membrane-bound inhibitor, xenopus, homolog of	BAMBI	25805	ENSG00000095739			Bambi (MGI:1915260)
chr10	29300001	59400000	10p11.23-q21.1		607239	DFNB33	Deafness, autosomal recessive 33		170508		prev. assignment to chr. 9 an error	Deafness, autosomal recessive 33, 607239 (2), Autosomal recessive	
chr10	29457338	29736936	10p11.2	10p11.23	604126	SVIL, MFM10	Supervillin	SVIL	6840	ENSG00000197321		Myofibrillar myopathy 10, 619040 (3), Autosomal recessive	Svil (MGI:2147319)
chr10	30012803	30115494	10p11	10p11.23	614398	KIAA1462, JCAD	KIAA1462 gene	JCAD	57608	ENSG00000165757			Jcad (MGI:2685174)
chr10	30309801	30349278	10p11.23	10p11.23	613669	MTPAP, PAPD1, SPAX4	Mitochondrial poly(A) polymerase	MTPAP	55149	ENSG00000107951	mutation identified in 1 SPAX4 family	?Spastic ataxia 4, autosomal recessive, 613672 (3), Autosomal recessive	Mtpap (MGI:1914690)
chr10	30434021	30461833	10p11.2	10p11.23	191195	MAP3K8, COT, EST, TPL2	Mitogen-activated protein kinase kinase kinase 8 (cancer Osaka thyroid oncogene)	MAP3K8	1326	ENSG00000107968		Lung cancer, somatic, 211980 (3)	Map3k8 (MGI:1346878)
chr10	30606221	30629753	10p11.23	10p11.23	612748	LYZL2	Lysozyme-like 2	LYZL2	119180	ENSG00000151033			Lyzl1 (MGI:1914578)
chr10	30844632	31032411	10p11.2	10p11.23	620749	ZNF438	Zinc finger protein 438	ZNF438	220929	ENSG00000183621			Zfp438 (MGI:2444919)
chr10	31100001	34200000	10p11.22		611934	EIG5	Epilepsy, idiopathic generalized, susceptibility to, 5		100188861		max lod at D10S1426	{Epilepsy, idiopathic generalized, susceptibility to, 5}, 611934 (2)	
chr10	31318417	31529804	10p11.2	10p11.22	189909	ZEB1, TCF8, NIL2A, PPCD3, FECD6	Zinc finger E box-binding homeobox 1	ZEB1	6935	ENSG00000148516		Corneal dystrophy, posterior polymorphous, 3, 609141 (3), Autosomal dominant; Corneal dystrophy, Fuchs endothelial, 6, 613270 (3), Autosomal dominant	Zeb1 (MGI:1344313)
chr10	31805398	31928876	10p12	10p11.22	610577	ARHGAP12	Rho GTPase-activating protein 12	ARHGAP12	94134	ENSG00000165322			Arhgap12 (MGI:1922665)
chr10	32009015	32056425	10p11.22	10p11.22	602809	KIF5B, KNS1, UKHC	Kinesin 1	KIF5B	3799	ENSG00000170759			Kif5b (MGI:1098268)
chr10	32267751	32378769	10p11	10p11.22	610999	EPC1	Enhancer of polycomb, Drosophila, homolog of, 1	EPC1	80314	ENSG00000120616			Epc1 (MGI:1278322)
chr10	32443324	32882864	10p11.22	10p11.22	619444	CCDC7	Coiled-coil domain-containing protein 7	CCDC7	79741	ENSG00000216937			Ccdc7a,Ccdc7b (MGI:1921953,MGI:1922703)
chr10	32900318	32958230	10p11.2	10p11.22	135630	ITGB1, FNRB	Integrin, beta-1 (fibronectin receptor, beta polypeptide; antigen CD29 includes MDF2, MSK12)	ITGB1	3688	ENSG00000150093	pseudogene FNRBL on 19p		Itgb1 (MGI:96610)
chr10	33177493	33334667	10p12	10p11.22	602069	NRP1, NRP, VEGF165R	Neuropilin 1	NRP1	8829	ENSG00000099250			Nrp1 (MGI:106206)
chr10	34109561	34815296	10p11.21	10p11.22-p11.21	606745	PARD3, PAR3	PAR3 family cell polarity regulator	PARD3	56288	ENSG00000148498			Pard3 (MGI:2135608)
chr10	34200001	59400000	10p11.21-q21.1		614990	USH1K	Usher syndrome, type IK		101180907		max lod at D10S539	Usher syndrome, type IK, 614990 (2), Autosomal recessive	
chr10	35008551	35127006	10p11.2-p11.1	10p11.21	603135	CUL2	Cullin 2	CUL2	8453	ENSG00000108094			Cul2 (MGI:1918995)
chr10	35126846	35212958	10p12.1-p11.2	10p11.21	123812	CREM	cAMP-responsive element modulator	CREM	1390	ENSG00000095794			Crem (MGI:88495)
chr10	35247025	35572667	10p11.2	10p11.21	612786	CCNY, CFP1, CCNX, C10orf9	Cyclin Y	CCNY	219771	ENSG00000108100			Ccny (MGI:1915224)
chr10	35605341	35608935	10p11.21	10p11.21	611922	GJD4, CX40.1	Gap junction protein, delta-4	GJD4	219770	ENSG00000177291			Gjd4 (MGI:2444990)
chr10	35638247	35642296	10p11.2	10p11.21	606146	FZD8	Frizzled class receptor 8	FZD8	8325	ENSG00000177283			Fzd8 (MGI:108460)
chr10	37125598	37265894	10p11.21	10p11.21	610856	ANKRD30A	Ankyrin repeat domain-containing protein 30A	ANKRD30A	91074	ENSG00000148513			
chr10	37949573	37976647	10p11.2-q11.2	10p11.21	194528	ZNF25, KOX19	Zinc finger protein-25 (KOX 19)	ZNF25	219749	ENSG00000175395			Zfp9 (MGI:99210)
chr10	38010489	38067834	10q11.2	10p11.1	194521	ZNF33A, NF11A, KOX2	Zinc finger protein-33a	ZNF33A	7581	ENSG00000189180			
chr10	38094337	38150293	10p11.1	10p11.1	616085	ZNF37A, KOX21, ZNF37	Zinc finger protein 37A	ZNF37A	7587	ENSG00000075407			
chr10	39800001	133797422	10q		608176	AITD4	Autoimmune thyroid disease, susceptibility to, 4		387581			{Autoimmune thyroid disease, susceptibility to, 4}, 608176 (2)	
chr10	41600001	68800000	10q11.2-q21		610926	STHAG5	Tooth agenesis, selective, 5		100188748		D10S604 and D10S568	Tooth agenesis, selective, 5, 610926 (2)	
chr10	42574169	42638570	10q11.2	10q11.21	194522	ZNF33B, ZNF11B, KOX2	Zinc finger protein-33b	ZNF33B	7582	ENSG00000196693			
chr10	42782795	42834937	10q11.21	10q11.21	611448	BMS1, BMS1L, KIAA0187, ACC	BMS1 ribosome biogenesis factor	BMS1	9790	ENSG00000165733	mutation identified in one ACC family	?Aplasia cutis congenita, nonsyndromic, 107600 (3), Autosomal dominant	Bms1 (MGI:2446132)
chr10	43077069	43130351	10q11.2	10q11.21	164761	RET, MEN2A, HSCR1	RET transforming sequence; oncogene RET	RET	5979	ENSG00000165731		{Hirschsprung disease, susceptibility to, 1}, 142623 (3), Autosomal dominant; Multiple endocrine neoplasia IIA, 171400 (3), Autosomal dominant; {Hirschsprung disease, protection against}, 142623 (3), Autosomal dominant; Medullary thyroid carcinoma, 155240 (3), Autosomal dominant; Pheochromocytoma, 171300 (3), Autosomal dominant; Multiple endocrine neoplasia IIB, 162300 (3), Autosomal dominant	Ret (MGI:97902)
chr10	43138445	43185308	10q11.22	10q11.21	616616	CSGALNACT2	Chondroitin sulfate N-acetylgalactosaminyltransferase 2	CSGALNACT2	55454	ENSG00000169826			Csgalnact2 (MGI:1926002)
chr10	43194535	43267065	10q11.21	10q11.21	614531	RASFEF1A	RASGEF domain family, member 1A	RASGEF1A	221002	ENSG00000198915			Rasgef1a (MGI:1917977)
chr10	43371636	43376335	10q11.21	10q11.21	616926	FXYD4, CHIF	FXYD domain-containing ion transport regulator 4	FXYD4	53828	ENSG00000150201			Fxyd4 (MGI:1889005)
chr10	43385618	43409186	10q11.21-q11.22	10q11.21	601037	HNRPF	Heterogeneous nuclear ribonucleoprotein F	HNRNPF	3185	ENSG00000169813			Hnrnpf (MGI:2138741)
chr10	43556344	43574616	10q11.2	10q11.21	601069	ZNF239, MOK2	Zinc finger protein-239	ZNF239	8187	ENSG00000196793	previously 19q13.2-q13.3		Zfp239 (MGI:1306812)
chr10	43643862	43648881	10q23-q24	10q11.21	194539	ZNF32, KOX30	Zinc finger protein-32 (KOX30)	ZNF32	7580	ENSG00000169740			Zfp637 (MGI:2448537)
chr10	44370165	44385097	10q11.1	10q11.21	600835	CXCL12, SDF1	Chemokine, C-X-C motif, ligand 12 (stromal cell-derived factor 1)	CXCL12	6387	ENSG00000107562		{AIDS, resistance to}, 609423 (3)	Cxcl12 (MGI:103556)
chr10	44959802	44995891	10q11.21	10q11.21	610559	RASSF4, AD037	Ras association domain family, member 4	RASSF4	83937	ENSG00000107551			Rassf4 (MGI:2386853)
chr10	44976128	44978809	10q11.21	10q11.21	611309	DEPP1, C10orf10, DEPP, FIG	DEPP1 autophagy regulator	DEPP1	11067	ENSG00000165507			Depp1 (MGI:1918730)
chr10	45000923	45005326	10q11.2	10q11.21	194529	ZNF22, KOX15	Zinc finger protein-22 (KOX15)	ZNF22	7570	ENSG00000165512			Zfp422 (MGI:1914505)
chr10	45374216	45446117	10q11.2	10q11.21	152390	ALOX5	Arachidonate 5-lipoxygenase	ALOX5	240	ENSG00000012779		{Atherosclerosis, susceptibility to} (3); {Asthma, diminished response to antileukotriene treatment in}, 600807 (3), Autosomal dominant	Alox5 (MGI:87999)
chr10	45454585	45594907	10q11.21	10q11.21-q11.22	613335	MARCH8	Membrane-associated RING-CH finger protein 8	MARCHF8	220972	ENSG00000165406			Marchf8 (MGI:1919029)
chr10	45727043	45792964	10q11.22	10q11.22	613631	WASHC2C, FAM21C, VPEF, KIAA0592	WASH complex, subunit 2C	WASHC2C	253725	ENSG00000172661			Washc2 (MGI:106463)
chr10	45972489	46003742	10q11.21-q11.23	10q11.22	605034	TIMM23	Translocase of inner mitochondrial membrane 23	TIMM23	100287932	ENSG00000265354			Timm23 (MGI:1858317)
chr10	46005088	46030623	10q11.2	10q11.22	601984	NCOA4, ELE1, PTC3	Nuclear receptor coactivator 4	NCOA4	8031	ENSG00000266412	fused with RET to form PTC3		Ncoa4 (MGI:1350932)
chr10	46033313	46046269	10q11.2	10q11.22	157145	MSMB, HPC13	Microseminoprotein, beta	MSMB	4477	ENSG00000263639		{Prostate cancer, hereditary, 13}, 611928 (3)	Msmb (MGI:97166)
chr10	46461099	46470668	10q11.2-q21.2	10q11.22	601790	PPYR1, NPY4R, PP1	Pancreatic polypeptide receptor-1	NPY4R	5540	ENSG00000204174			Npy4r (MGI:105374)
chr10	46541736	46557596	10q11.22	10q11.22	611240	GPRIN2, GRIN2	GPRIN family, member 2	GPRIN2	9721	ENSG00000204175			Gprin2 (MGI:2444560)
chr10	46579128	46597108	10q11.1	10q11.22	608081	SYT15	Synaptotagmin 15	SYT15	83849	ENSG00000204176			Syt15 (MGI:2442166)
chr10	46911428	47003653	10q11.2	10q11.22	610630	PTPN20	Protein tyrosine phosphatase, nonreceptor-type, 20	PTPN20	26095	ENSG00000204179			Ptpn20 (MGI:1196295)
chr10	47300197	47313577	10q11.22	10q11.22	601361	GDF10, BMP3B	Growth/differentiation factor 10	GDF10	2662	ENSG00000266524			Gdf10 (MGI:95684)
chr10	47322454	47327588	10q11.22	10q11.22	605120	GDF2, BMP9, HHT5	Growth differentiation factor 2 (bone morphogenetic protein 9)	GDF2	2658	ENSG00000263761		Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3), Autosomal dominant	Gdf2 (MGI:1321394)
chr10	47348363	47357881	10q11.2	10q11.22	180290	RBP3, RP66	Retinol-binding protein-3, interstitial	RBP3	5949	ENSG00000265203	1 family identified with mutation	?Retinitis pigmentosa 66, 615233 (3), Autosomal recessive	Rbp3 (MGI:97878)
chr10	47467993	47991796	10q11.2	10q11.22	602396	ANXA8	Annexin A8	ANXA8	653145	ENSG00000265190			Anxa8 (MGI:1201374)
chr10	48156559	48274895	10q11.22	10q11.22	613323	FRMPD2	FERM and PDZ domains-containing protein 2	FRMPD2	143162	ENSG00000170324			Frmpd2 (MGI:2685472)
chr10	48306677	48439360	10q11.2	10q11.22	601158	MAPK8, PRKM8, JNK1, SAPK1	Mitogen-activated protein kinase 8	MAPK8	5599	ENSG00000107643			Mapk8 (MGI:1346861)
chr10	48429831	48656265	10q11	10q11.22-q11.23	610585	ARHGAP22	Rho GTPase-activating protein 22	ARHGAP22	58504	ENSG00000128805			Arhgap22 (MGI:2443418)
chr10	48600001	80300000	10q11.23-q22.3		614237	HYPT9	Hypotrichosis 9		100736250		between D10S538 and D10S2327	Hypotrichosis 9, 614237 (2), Autosomal recessive	
chr10	48684873	48982956	10q11.22-q11.23	10q11.23	613316	WDFY4, KIAA1607	WD repeat- and FYVE domain-containing protein 4	WDFY4	57705	ENSG00000128815			Wdfy4 (MGI:3584510)
chr10	48909480	48939840	10q11.23	10q11.23	619002	LRRC18	Leucine-rich repeat-containing protein 18	LRRC18	474354	ENSG00000165383			Lrrc18 (MGI:1914830)
chr10	49364066	49396089	10q11.23	10q11.23	606701	DRGX, DRG11	Dorsal root ganglia homeobox	DRGX	644168	ENSG00000165606			Drgx (MGI:2148204)
chr10	49434881	49539538	10q11	10q11.23	609413	ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11	ERCC excision repair 6, chromatin remodeling factor	ERCC6	2074	ENSG00000225830	mutation identified in 1 DSCS family	UV-sensitive syndrome 1, 600630 (3), Autosomal recessive; Cerebrooculofacioskeletal syndrome 1, 214150 (3), Autosomal recessive; ?De Sanctis-Cacchione syndrome, 278800 (3), Autosomal recessive; Cockayne syndrome, type B, 133540 (3), Autosomal recessive; {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); Premature ovarian failure 11, 616946 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant	Ercc6 (MGI:1100494)
chr10	49609095	49667942	10q11.2	10q11.23	118490	CHAT, CMS6	Choline acetyltransferase	CHAT	1103	ENSG00000070748		Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3), Autosomal recessive	Chat (MGI:88392)
chr10	49610310	49612720	10q11.2	10q11.23	600336	SLC18A3, VACHT, CMS21	Solute carrier family 18 (vesicular acetylcholine), member 3	SLC18A3	6572	ENSG00000187714		Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3), Autosomal recessive	Slc18a3 (MGI:1101061)
chr10	49734641	49762379	10q11.23	10q11.23	617513	OGDHL, KIAA1290, YOBELN	Oxoglutarate dehydrogenase-like protein	OGDHL	55753	ENSG00000197444		Yoon-Bellen neurodevelopmental syndrome, 619701 (3), Autosomal recessive	Ogdhl (MGI:3616088)
chr10	49818279	49942027	10q11.23	10q11.23	603501	PARG	Poly(ADP-ribose) glycohydrolase	PARG	8505	ENSG00000227345			Parg (MGI:1347094)
chr10	49942053	49974850	10q11.23	10q11.23	620758	TIMM23B	Translocase of inner mitochondrial membrane 23B	TIMM23B	100652748	ENSG00000204152			Timm23 (MGI:1858317)
chr10	50184861	50251516	10q11.23	10q11.23	611202	ASAH2	N-acylsphingosine amidohydrolase 2	ASAH2	56624	ENSG00000188611			Asah2 (MGI:1859310)
chr10	50305600	50625184	10q11.2	10q11.23	611573	SGMS1, SMS1, TMEM23, MOB	Sphingomyelin synthase 1	SGMS1	259230	ENSG00000198964			Sgms1 (MGI:2444110)
chr10	50739936	50759255	10q11.23	10q11.23	610987	ASAH2B, ASAH2C, ASAH2L	N-acylsphingosine amidohydrolase 2B	ASAH2B	653308	ENSG00000204147			Asah2 (MGI:1859310)
chr10	50799409	50885627	10q11.21	10q11.23	618199	A1CF, ASP	APOBEC1 complementation factor	A1CF	29974	ENSG00000148584			A1cf (MGI:1917115)
chr10	50990888	52298350	10q11.2	10q11.23-q21.1	176894	PRKG1, PRKG1B, PRKGR1B, AAT8	Protein kinase, cGMP-dependent, regulatory, type I	PRKG1	5592	ENSG00000185532		Aortic aneurysm, familial thoracic 8, 615436 (3), Autosomal dominant	Prkg1 (MGI:108174)
chr10	51100001	68800000	10q21		613065	ALL1	Leukemia, acute lymphocytic, susceptibility to, 1		100310785		associated with rs10821936	{Leukemia, acute lymphocytic, susceptibility to, 1}, 613065 (2)	
chr10	51100001	68800000	10q21		612369	ALPQTL4	Alkaline phosphatase, plasma level of, QTL 4		100196916		linkage with rs12355784	{Alkaline phosphatase, plasma level of, QTL4}, 612369 (2)	
chr10	51100001	68800000	10q21		612255	IBD15	Inflammatory bowel disease 15		100190929		association with rs10761659	{Inflammatory bowel disease 15}, 612255 (2)	
chr10	51100001	68800000	10q21		612357	MAFD8	Major affective disorder 8		100196912		associated with rs20994336	{Major affective disorder-8, susceptibility to}, 612357 (2)	
chr10	51100001	59400000	10q21.1		612717	MYP15	Myopia 15		100294716		max lod at D10S1643	Myopia 15, 612717 (2), Autosomal dominant	
chr10	51695486	51699595	10q22-q23	10q21.1	611968	CSTF2T, KIAA0689	Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD, tau variant	CSTF2T	23283	ENSG00000177613			Cstf2t (MGI:1932622)
chr10	52314281	52317657	10q11.2	10q21.1	605189	DKK1	Dickkopf WNT signaling pathway inhibitor 1	DKK1	22943	ENSG00000107984			Dkk1 (MGI:1329040)
chr10	52765380	52772784	10q11.2-q21	10q21.1	154545	MBL2, MBL, MBP1, MBL2D, MBPD	Mannose-binding lectin 2, soluble (opsonic defect)	MBL2	4153	ENSG00000165471	near MEN2A	{Chronic infections, due to MBL deficiency}, 614372 (3), Autosomal dominant	Mbl2 (MGI:96924)
chr10	53802771	55627942	10q21-q22	10q21.1	605514	PCDH15, DFNB23, USH1F	Protocadherin 15	PCDH15	65217	ENSG00000150275		Usher syndrome, type 1D/F digenic, 601067 (3), Digenic recessive, Autosomal recessive; Deafness, autosomal recessive 23, 609533 (3), Autosomal recessive; Usher syndrome, type 1F, 602083 (3), Autosomal recessive	Pcdh15 (MGI:1891428)
chr10	56357227	56361273	10q21-q22	10q21.1	609177	ZWINT, SIP30	ZW10 interacting kinetochore protein	ZWINT	11130	ENSG00000122952			Zwint (MGI:1289227)
chr10	58191517	58267894	10q21	10q21.1	609851	IPMK	Inositol polyphosphate multikinase	IPMK	253430	ENSG00000151151			Ipmk (MGI:1916968)
chr10	58269162	58289586	10q21.1	10q21.1	611932	CISD1, MITONEET	CDGSH iron sulfur domain protein 1	CISD1	55847	ENSG00000122873			Cisd1 (MGI:1261855)
chr10	58335006	58370748	10q11.2-q21	10q21.1	602961	UBE2D1, UBCH5A, UBCH5	Ubiquitin-conjugating enzyme E2 D1	UBE2D1	7321	ENSG00000072401			Ube2d1 (MGI:2384911)
chr10	58385410	58399220	10q21	10q21.1	600438	TFAM, TCF6L2, TCF6L1, TCF6L3, MTTF1, TCF6, MTDPS15	Transcription factor A, mitochondrial	TFAM	7019	ENSG00000108064	mutation identified in 1 MTDPS15 family	?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3), Autosomal recessive	Tfam (MGI:107810)
chr10	58512220	58831435	10q21.2	10q21.1	614295	BICC1, BICC, CYSRD	Bicaudal C, Drosophila, homolog of, 1	BICC1	80114	ENSG00000122870		{Renal dysplasia, cystic, susceptibility to}, 601331 (3), Autosomal dominant	Bicc1 (MGI:1933388)
chr10	59650764	59710079	10q21.2	10q21.2	614242	SLC16A9, MCT9	Solute carrier family 16 (monocarboxylic acid transporter), member 9	SLC16A9	220963	ENSG00000165449			Slc16a9 (MGI:1914109)
chr10	59736692	59753455	10q21.2	10q21.2	616246	MRLN, LINC00948	Myoregulin	MRLN	100507027	ENSG00000227877			Mrln (MGI:1916813)
chr10	59788747	59906556	10q21	10q21.2	601985	CCDC6, D10S170, H4, TST1	Coiled-coil domain-containing 6	CCDC6	8030	ENSG00000108091	fused with RET to form PTC1		Ccdc6 (MGI:1923801)
chr10	60026298	60733528	10q21	10q21.2	600465	ANK3, MRT37	Ankyrin-3, node of Ranvier	ANK3	288	ENSG00000151150		Intellectual developmental disorder, autosomal recessive 37, 615493 (3), Autosomal recessive	Ank3 (MGI:88026)
chr10	60778331	60794852	10q21.1	10q21.2	116940	CDK1, CDC2	Cyclin-dependent kinase 1	CDK1	983	ENSG00000170312			Cdk1 (MGI:88351)
chr10	60860860	61001967	10q21.1	10q21.2	607351	RHOBTB1, KIAA0740	Rho-related BTB domain-containing protein 1	RHOBTB1	9886	ENSG00000072422			Rhobtb1 (MGI:1916538)
chr10	61406642	61453381	10q21.2	10q21.2	617803	TMEM26	Transmembrane protein 26	TMEM26	219623	ENSG00000196932			Tmem26 (MGI:2143537)
chr10	61901699	62096944	10q21.2	10q21.2	608538	ARID5B, MRF2, DESRT	AT-rich interaction domain-containing protein 5B	ARID5B	84159	ENSG00000150347			Arid5b (MGI:2175912)
chr10	62183900	62268844	10q21.3	10q21.2	618450	RTKN2	Rhotekin 2	RTKN2	219790	ENSG00000182010			Rtkn2 (MGI:2158417)
chr10	62374369	62480285	10q21.2	10q21.2	607818	ZNF365, UAN	Zinc finger protein 365	ZNF365	22891	ENSG00000138311		{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)	Zfp365 (MGI:2143676)
chr10	62800001	73100000	10q21.3-q22.1		604185	HCFP2	Facial paresis, hereditary congenital, 2		22811			Facial paresis, hereditary congenital, 2, 604185 (2), Autosomal dominant	
chr10	62800001	80300000	10q21.3-q22.3		613339	HWE1	Epilepsy, hot water, 1		100415903		max lod at D10S412	Epilepsy, hot water, 1, 613339 (2), Autosomal dominant	
chr10	62800001	68800000	10q21.3		614996	MSE	Myelinating Schwann cell element		101180900				
chr10	62804720	62808479	10q21.3	10q21.3	611392	ADO, C10orf22	2-aminoethanethiol dioxygenase	ADO	84890	ENSG00000181915			Ado (MGI:2685083)
chr10	62811996	62819167	10q21.1-q22.1	10q21.3	129010	EGR2, KROX20, CHN1	KROX-20, Drosophila, homolog of (early growth response-2)	EGR2	1959	ENSG00000122877		Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, type 1D, 607678 (3), Autosomal dominant; Hypomyelinating neuropathy, congenital, 1, 605253 (3), Autosomal recessive, Autosomal dominant	Egr2 (MGI:95296)
chr10	63133328	63155024	10q21.3	10q21.3	616477	NRBF2, COPR	Nuclear receptor-binding factor 2	NRBF2	29982	ENSG00000148572			Nrbf2 (MGI:1354950)
chr10	63167225	63521890	10q21.3	10q21.3	604503	JMJD1C, TRIP8, KIAA1380	Jumonji domain-containing protein 1C	JMJD1C	221037	ENSG00000171988			Jmjd1c (MGI:1918614)
chr10	63521401	63625128	10q21.3	10q21.3	609348	REEP3, C10orf74	Receptor expression-enhancing protein 3	REEP3	221035	ENSG00000165476			Reep3 (MGI:88930)
chr10	65912523	67763594	10q21	10q21.3	607667	CTNNA3, ARVD13	Catenin, alpha-3	CTNNA3	29119	ENSG00000183230		Arrhythmogenic right ventricular dysplasia 13, 615616 (3), Autosomal dominant	Ctnna3 (MGI:2661445)
chr10	66926036	67101551	10q21.3	10q21.3	610869	LRRTM3	Leucine-rich repeat transmembrane protein 3	LRRTM3	347731	ENSG00000198739			Lrrtm3 (MGI:2389177)
chr10	67796669	67838188	10q21.1	10q21.3	606060	DNAJC12, JDP1, HPANBH4	DNAJ/HSP40 homolog, subfamily C, member 12	DNAJC12	56521	ENSG00000108176		Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive	Dnajc12 (MGI:1353428)
chr10	67884656	67918390	10q21.3	10q21.3	604479	SIRT1, SIR2L1	Sirtuin 1	SIRT1	23411	ENSG00000096717			Sirt1 (MGI:2135607)
chr10	67921905	68075283	10q21.3	10q21.3	609248	HERC4	HECT domain and RCC1-like domain 4	HERC4	26091	ENSG00000148634			Herc4 (MGI:1914595)
chr10	68087897	68212017	10q21.1	10q21.3	608517	MYPN, CMD1DD, CMH22, RCM4, CMYO24	Myopalladin	MYPN	84665	ENSG00000138347		Cardiomyopathy, hypertrophic, 22, 615248 (3), Autosomal dominant; Congenital myopathy 24, 617336 (3), Autosomal recessive; Cardiomyopathy, familial restrictive, 4, 615248 (3), Autosomal dominant; Cardiomyopathy, dilated, 1KK, 615248 (3), Autosomal dominant	Mypn (MGI:1916052)
chr10	68230595	68232113	10q21.3-q22.1	10q21.3	609875	ATOH7, PHPVAR, NCRNA	Atonal, Drosophila, homolog of, 7	ATOH7	220202	ENSG00000179774		Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3), Autosomal recessive	Atoh7 (MGI:1355553)
chr10	68282660	68332928	10q21.1	10q21.3	612189	PBLD, MAWBP, MAWDBP	Phenazine biosynthesis-like protein domain-containing protein	PBLD	64081	ENSG00000108187			Pbld1,Pbld2 (MGI:1914557,MGI:1915621)
chr10	68331693	68343196	10q22	10q21.3	602324	HNRPH3, 2H9	Heterogeneous nuclear ribonucleoprotein H3	HNRNPH3	3189	ENSG00000096746			Hnrnph3 (MGI:1926462)
chr10	68341112	68407277	10q21.1	10q21.3	610328	RUFY2, KIAA1537	RUN and FYVE domains-containing protein 2	RUFY2	55680	ENSG00000204130			Rufy2 (MGI:1917682)
chr10	68414064	68472521	10q21.3-q22.1	10q21.3	601810	DNA2, DNA2L, KIAA0083, PEOA6, SCKL8, RTS4	DNA replication helicase/nuclease 2	DNA2	1763	ENSG00000138346		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3), Autosomal dominant; Rothmund-Thomson syndrome, type 4, 620819 (3), Autosomal recessive; Seckel syndrome 8, 615807 (3), Autosomal recessive	Dna2 (MGI:2443732)
chr10	68477998	68527523	10q21.3-q22.1	10q21.3	139080	SLC25A16, D10S105E, GDA	Solute carrier family 25 (mitochondrial carrier), member 16 (Graves disease autoantigen)	SLC25A16	8034	ENSG00000122912			Slc25a16 (MGI:1920382)
chr10	68560337	68694487	10q22	10q21.3	607790	TET1, CXXC6, LCX, KIAA1676	tet methylcytosine dioxygenase 1	TET1	80312	ENSG00000138336			Tet1 (MGI:1098693)
chr10	68721239	68792377	10q21.3	10q21.3	612569	CCAR1, CARP1	Cell division cycle and apoptosis regulator 1	CCAR1	55749	ENSG00000060339			Ccar1 (MGI:1914750)
chr10	68800001	104000000	10q22-q24		608583	ATFB1	Atrial fibrillation, familial, 1		406216			Atrial fibrillation, familial, 1, 608583 (2), Autosomal dominant	
chr10	68800001	95300000	10q22-q23		611706	MGR12	Migraine, with or without aura, susceptibility to, 12		100188851		max lod at 100cM	{Migraine, with or without aura, susceptibility to, 12}, 611706 (2), Autosomal dominant	
chr10	68800001	97500000	10q22.1-q24.1		609041	SPG27	Spastic paraplegia-27, autosomal recessive		414886		between  D10S606 and D10S1758	Spastic paraplegia 27, autosomal recessive, 609041 (2), Autosomal recessive	
chr10	68800001	80300000	10q22		611003	SQTL1	Smoking as a quantitative trait locus 1		100188827		near D10S1432	{Smoking as a quantitative trait locus 1}, 611003 (2)	
chr10	68827531	68895432	10q22.1	10q22.1	609397	STOX1, PEE4	Storkhead box 1	STOX1	219736	ENSG00000165730		Preeclampsia/eclampsia 4, 609404 (3), Autosomal dominant	Stox1 (MGI:2684909)
chr10	68901315	68946847	10q22.1	10q22.1	610373	DDX50, GUB	DExD-box helicase 50	DDX50	79009	ENSG00000107625			Ddx50 (MGI:2182303)
chr10	68956170	68985068	10q21	10q22.1	606357	DDX21	DExD-box helicase 21	DDX21	9188	ENSG00000165732			Ddx21 (MGI:1860494)
chr10	68988803	69016982	10q22.1	10q22.1	609367	KIFBP, KIAA1279	Kinesin family binding protein	KIFBP	26128	ENSG00000198954		Goldberg-Shprintzen megacolon syndrome, 609460 (3), Autosomal recessive	Kifbp (MGI:1919570)
chr10	69087603	69104811	10q22.1	10q22.1	177040	SRGN, PRG1, PRG	Serglycin	SRGN	5552	ENSG00000122862			Srgn (MGI:97756)
chr10	69124178	69174412	10q21.1	10q22.1	605506	VPS26A, VPS26, HB58	VPS26 retromer complex component A	VPS26A	9559	ENSG00000122958			Vps26a (MGI:1353654)
chr10	69180234	69209093	10q22.1	10q22.1	605122	SUPV3L1	Suv3-like 1	SUPV3L1	6832	ENSG00000156502			Supv3l1 (MGI:2441711)
chr10	69220332	69267552	10q22.1	10q22.1	617221	HKDC1, RP92	Hexokinase domain-containing protein 1	HKDC1	80201	ENSG00000156510		Retinitis pigmentosa 92, 619614 (3), Autosomal recessive	Hkdc1 (MGI:2384910)
chr10	69270000	69401882	10q22	10q22.1	142600	HK1, HKD, HMSNR, RP79, NEDVIBA, CNSHA5	Hexokinase-1	HK1	3098	ENSG00000156515		Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient, 235700 (3), Autosomal recessive; Retinitis pigmentosa 79, 617460 (3), Autosomal dominant; Neuropathy, hereditary motor and sensory, Russe type, 605285 (3), Autosomal recessive; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 (3), Autosomal dominant	Hk1 (MGI:96103)
chr10	69403903	69416918	10q11-q21	10q22.1	162321	TACR2, TAC2R, NKNAR	Tachykinin receptor 2 (substance K receptor; neurokinin 2 receptor)	TACR2	6865	ENSG00000075073			Tacr2 (MGI:98477)
chr10	69451465	69549508	10q22.1	10q22.1	613140	TSPAN15, NET7	Tetraspanin 15	TSPAN15	23555	ENSG00000099282			Tspan15 (MGI:1917673)
chr10	69571485	69573422	10q21.3	10q22.1	604882	NEUROG3, NGN3, ATOH5	Neurogenin 3	NEUROG3	50674	ENSG00000122859		Diarrhea 4, malabsorptive, congenital, 610370 (3), Autosomal recessive	Neurog3 (MGI:893591)
chr10	69801906	69959144	10q22	10q22.1	120350	COL13A1, CMS19	Collagen XIII, alpha-1 polypeptide	COL13A1	1305	ENSG00000197467	~550kb proximal to P4HA	Myasthenic syndrome, congenital, 19, 616720 (3), Autosomal recessive	Col13a1 (MGI:1277201)
chr10	70052846	70112282	10q22.3	10q22.1	616141	MACROH2A2, H2AFY2	MacroH2A.2 histone	MACROH2A2	55506	ENSG00000099284			Macroh2a2 (MGI:3037658)
chr10	70112271	70132825	10q22.1	10q22.1	605159	AIFM2, FSP1, PRG3	Apoptosis-inducing factor, mitochondria-associated, 2	AIFM2	84883	ENSG00000042286			Aifm2 (MGI:1918611)
chr10	70137981	70146700	10q22.1	10q22.1	611017	TYSND1	Trypsin domain-containing protein 1	TYSND1	219743	ENSG00000156521			Tysnd1 (MGI:1919017)
chr10	70147289	70170514	10q22.1	10q22.1	607691	SARA1, SAR1A	Secretion-associated RAS-related GTPase 1A	SAR1A	56681	ENSG00000079332			Sar1a (MGI:98230)
chr10	70202835	70233429	10q21.3	10q22.1	179030	PP	Inorganic pyrophosphatase	PPA1	5464	ENSG00000180817			Ppa1 (MGI:97831)
chr10	70247329	70284004	10q21	10q22.1	607448	NPFFR1, NPFF1, GPR147	Neuropeptide FF receptor 1	NPFFR1	64106	ENSG00000148734			Npffr1 (MGI:2685082)
chr10	70404145	70428618	10q21-q22	10q22.1	602224	EIF4EBP2, 4EBP2	Eukaryotic translation initiation factor-4E binding protein-1	EIF4EBP2	1979	ENSG00000148730			Eif4ebp2 (MGI:109198)
chr10	70431936	70447951	10q22.1	10q22.1	601265	NODAL, HTX5	Nodal, mouse, homolog of	NODAL	4838	ENSG00000156574		Heterotaxy, visceral, 5, 270100 (3), Autosomal dominant	Nodal (MGI:97359)
chr10	70458485	70568450	10q22.1	10q22.1	614656	KIAA1274, PALD	Paladin, mouse, homolog of	PALD1	27143	ENSG00000107719			Pald1 (MGI:1351623)
chr10	70597348	70602741	10q22	10q22.1	170280	PRF1, HPLH2, FLH2	Perforin	PRF1	5551	ENSG00000180644	mistakenly assigned to chr.17	Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3), Autosomal recessive; Aplastic anemia, 609135 (3); Lymphoma, non-Hodgkin, 605027 (3)	Prf1 (MGI:97551)
chr10	70672506	70762441	10q22.1	10q22.1	607506	ADAMTS14	ADAM metallopeptidase domain with thrombospondin type 1 motif, 14	ADAMTS14	140766	ENSG00000138316			Adamts14 (MGI:2179942)
chr10	70771238	70785377	10q22.1	10q22.1	612640	C10orf27	chromosome 10 open reading frame 27	TBATA	219793	ENSG00000166220			Tbata (MGI:1923820)
chr10	70815948	70881184	10q22.1	10q22.1	603729	SGPL1, SPL, RENI, NPHS14	Sphingosine-1-phosphate lyase 1	SGPL1	8879	ENSG00000166224		RENI syndrome, 617575 (3), Autosomal recessive	Sgpl1 (MGI:1261415)
chr10	70882280	70888565	10q22	10q22.1	126090	PCBD1, DCOH	Pterin-4a-carbinolamine dehydratase 1	PCBD1	5092	ENSG00000166228		Hyperphenylalaninemia, BH4-deficient, D, 264070 (3), Autosomal recessive	Pcbd1 (MGI:94873)
chr10	71212570	71302864	10q21-q22	10q22.1	607870	UNC5B, UNC5H2	unc-5 netrin receptor B	UNC5B	219699	ENSG00000107731			Unc5b (MGI:894703)
chr10	71319259	71381423	10q22.1	10q22.1	612373	SLC29A3, ENT3, PHID, HCLAP	Solute carrier family 29 (nucleoside transporter), member 3	SLC29A3	55315	ENSG00000198246		Histiocytosis-lymphadenopathy plus syndrome, 602782 (3), Autosomal recessive	Slc29a3 (MGI:1918529)
chr10	71396920	71815947	10q21-q22	10q22.1	605516	CDH23, USH1D, DFNB12, PITA5	Cadherin-23 (otocadherin)	CDH23	64072	ENSG00000107736	between D10S529 and D10S573	Usher syndrome, type 1D, 601067 (3), Digenic recessive, Autosomal recessive; {Pituitary adenoma 5, multiple types}, 617540 (3), Autosomal dominant; Usher syndrome, type 1D/F digenic, 601067 (3), Digenic recessive, Autosomal recessive; Deafness, autosomal recessive 12, 601386 (3), Autosomal recessive	Cdh23 (MGI:1890219)
chr10	71747556	71773520	10q22.1	10q22.1	615608	VSIR, C10orf54, B7H5	V-set immunoregulatory receptor	VSIR	64115	ENSG00000107738			Vsir (MGI:1921298)
chr10	71816298	71851251	10q22.1	10q22.1	176801	PSAP, SAP1, PSAPD, PARK24	Prosaposin (sphingolipid activator protein-1)	PSAP	5660	ENSG00000197746		Combined SAP deficiency, 611721 (3), Autosomal recessive; Krabbe disease, atypical, 611722 (3), Autosomal recessive; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3), Autosomal recessive; Gaucher disease, atypical, 610539 (3); {Parkinson disease 24, autosomal dominant, susceptibility to}, 619491 (3), Autosomal dominant	Psap (MGI:97783)
chr10	71964395	72013558	10q22.1	10q22.1	603799	CHST3, C6ST, C6ST1, HSD	Carbohydrate sulfotransferase 3	CHST3	9469	ENSG00000122863		Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3), Autosomal recessive	Chst3 (MGI:1858224)
chr10	72059034	72089032	10q21-q23	10q22.1	607988	SPOCK2, KIAA0275	SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 2	SPOCK2	9806	ENSG00000107742			Spock2 (MGI:1891351)
chr10	72096032	72217134	10q22.1	10q22.1	614215	ASCC1, p50, SMABF2	Activating signal cointegrator 1 complex, subunit 1	ASCC1	51008	ENSG00000138303		Spinal muscular atrophy with congenital bone fractures 2, 616867 (3), Autosomal recessive; Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	Ascc1 (MGI:1916340)
chr10	72216012	72235860	10q22.1	10q22.1	613427	ANAPC16, MSAG, C10orf104	Anaphase-promoting complex, subunit 16	ANAPC16	119504	ENSG00000166295			Anapc16 (MGI:1289325)
chr10	72273924	72276036	10q24.33	10q22.1	607729	DDIT4, REDD1, RTP801	DNA damage-inducible transcript 4	DDIT4	54541	ENSG00000168209			Ddit4 (MGI:1921997)
chr10	72332863	72354919	10q22.2	10q22.1	608376	DNAJB12, DJ10, FLJ0027	DNAJ, E. coli, homolog of, subfamily B, member 12	DNAJB12	54788	ENSG00000148719			Dnajb12 (MGI:1931881)
chr10	72367340	72626079	10q22.1	10q22.1	605084	MICU1, CBARA1, MPXPS	Mitochondrial calcium uptake protein 1	MICU1	10367	ENSG00000107745		Myopathy with extrapyramidal signs, 615673 (3), Autosomal recessive	Micu1 (MGI:2384909)
chr10	72692143	72887694	10q22.1	10q22.1	614197	MCU, CCDC109A	Mitochondrial calcium uniporter	MCU	90550	ENSG00000156026			Mcu (MGI:3026965)
chr10	72893739	72933036	10q21.3	10q22.1	609330	OIT3, LZP	Oncoprotein-induced transcript 3, mouse, homolog of	OIT3	170392	ENSG00000138315			Oit3 (MGI:1201782)
chr10	72934762	72954806	10q22.1	10q22.1	611653	PLA2G12B, GXIIB	Phospholipase A2, group XIIB	PLA2G12B	84647	ENSG00000138308			Pla2g12b (MGI:1917086)
chr10	73007217	73096866	10q21.3-q23.1	10q22.1	176710	P4HA1, P4HA	Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide 1	P4HA1	5033	ENSG00000122884			P4ha1 (MGI:97463)
chr10	73110455	73131823	10q22.2	10q22.2	609233	NUDT13	Nudix hydrolase 13	NUDT13	25961	ENSG00000166321			Nudt13 (MGI:1914975)
chr10	73133668	73168095	10q22.2	10q22.2	616464	ECD, SGT1	Ecdysoneless cell cycle regulator	ECD	11319	ENSG00000122882			Ecd (MGI:1917851)
chr10	73168119	73244504	10q22.2	10q22.2	618413	FAM149B1, KIAA0974, JBTS36	Family with sequence similarity 149, member B1	FAM149B1	317662	ENSG00000138286		Joubert syndrome 36, 618763 (3), Autosomal recessive	Fam149b (MGI:2145567)
chr10	73232272	73247255	10q22.2	10q22.2	611206	DNAJC9, JDD1, KIAA0974	DNAJ/HSP40 homolog, subfamily C, member 9	DNAJC9	23234	ENSG00000213551			Dnajc9 (MGI:1915326)
chr10	73248849	73252644	10q22.1	10q22.2	609204	MRPS16, COXPD2	Mitochondrial ribosomal protein S16	MRPS16	51021	ENSG00000182180		Combined oxidative phosphorylation deficiency 2, 610498 (3), Autosomal recessive	Mrps16 (MGI:1913492)
chr10	73253762	73362979	10q22.2	10q22.2	618661	CFAP70, TTC18, SPGF41	Cilia- and flagella-associated protein 70	CFAP70	118491	ENSG00000156042	mutation identified in 1 SPGF41 patient	?Spermatogenic failure 41, 618670 (3), Autosomal recessive	Cfap70 (MGI:1923920)
chr10	73375101	73414058	10q21.1-q21.2	10q22.2	186360	ANXA7, SNX	Annexin A7 (synexin)	ANXA7	310	ENSG00000138279			Anxa7 (MGI:88031)
chr10	73423579	73433561	10q22.2	10q22.2	614773	MSS51, ZMYND17	MSS51 mitochondrial translational activator	MSS51	118490	ENSG00000166343			Mss51 (MGI:1922093)
chr10	73436433	73496024	10q21-q22	10q22.2	114106	PPP3CB, CALNB	Protein phosphatase-3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)	PPP3CB	5532	ENSG00000107758			Ppp3cb (MGI:107163)
chr10	73631612	73641474	10q22.1	10q22.2	605603	MYOZ1	Myozenin 1 (calsarcin 2)	MYOZ1	58529	ENSG00000177791			Myoz1 (MGI:1929471)
chr10	73744372	73772161	10q22.2	10q22.2	607185	SEC24C, KIAA0079	SEC24-related gene family, member C	SEC24C	9632	ENSG00000176986			Sec24c (MGI:1919746)
chr10	73772276	73780254	10q22.2	10q22.2	616932	FUT11, FUCTXI	Fucosyltransferase 11	FUT11	170384	ENSG00000196968			Fut11 (MGI:1920318)
chr10	73782048	73783652	10q22.2	10q22.2	608842	CHCHD1	Coiled-coil-helix-coiled-coil-helix domain-containing protein 1	CHCHD1	118487	ENSG00000172586			Chchd1 (MGI:1913371)
chr10	73785606	73801793	10q22.2	10q22.2	619213	ZSWIM8, KIAA0913	Zinc finger SWIM domain-containing protein 8	ZSWIM8	23053	ENSG00000214655			Zswim8 (MGI:1919156)
chr10	73801916	73811820	10q22	10q22.2	603268	NDST2	N-deacetylase/N-sulfotransferase 2	NDST2	8509	ENSG00000166507	in intron of PCDH15		Ndst2 (MGI:97040)
chr10	73812501	73874555	10q22	10q22.2	602123	CAMK2G, CAMKG, MRD59	Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma	CAMK2G	818	ENSG00000148660	in intron of PCDH15	Intellectual developmental disorder, autosomal dominant 59, 618522 (3), Autosomal dominant	Camk2g (MGI:88259)
chr10	73909164	73917494	10q24	10q22.2	191840	PLAU, URK, QPD, BDPLT5	Plasminogen activator, urokinase	PLAU	5328	ENSG00000122861	proximal to HOX11	Quebec platelet disorder, 601709 (3), Autosomal dominant; {Alzheimer disease, late-onset, susceptibility to}, 104300 (3), Autosomal dominant	Plau (MGI:97611)
chr10	73998116	74121363	10q22.1-q23	10q22.2	193065	VCL, CMD1W, CMH15	Vinculin	VCL	7414	ENSG00000035403		Cardiomyopathy, dilated, 1W, 611407 (3); Cardiomyopathy, hypertrophic, 15, 613255 (3), Autosomal dominant	Vcl (MGI:98927)
chr10	74120255	74150828	10q22.2	10q22.2	610366	AP3M1	Adaptor-related protein complex 3, mu-1 subunit	AP3M1	26985	ENSG00000185009			Ap3m1 (MGI:1929212)
chr10	74151221	74709290	10q11-q24	10q22.2	102750	ADK	Adenosine kinase	ADK	132	ENSG00000156110		Hypermethioninemia due to adenosine kinase deficiency, 614300 (3), Autosomal recessive	Adk (MGI:87930)
chr10	74824936	75032624	10q22	10q22.2	605880	KAT6B, MYST4, MORF, GTPTS	Lysine acetyltransferase 6B	KAT6B	23522	ENSG00000156650		SBBYSS syndrome, 603736 (3), Autosomal dominant; Genitopatellar syndrome, 606170 (3), Autosomal dominant	Kat6b (MGI:1858746)
chr10	75037472	75073642	10q22.2	10q22.2	618574	DUPD1, DUSP27, FMDSP	Dual-specificity phosphatase domain- and proline isomerase	DUSP29	338599	ENSG00000188716			Dusp29 (MGI:3647127)
chr10	75094434	75109191	10q22.2	10q22.2	613191	DUSP13, TMDP, MDSP	Dual-specificity phosphatase 13	DUSP13B	51207	ENSG00000079393			Dusp13b (MGI:1351599)
chr10	75099593	75182123	10q22.2	10q22.2	611575	SAMD8, SMSR	Sterile alpha motif domain-containing 8	SAMD8	142891	ENSG00000156671			Samd8 (MGI:1914880)
chr10	75210170	75231448	10q22	10q22.2	193245	VDAC2	Voltage-dependent anion channel 2	VDAC2	7417	ENSG00000165637			Vdac2 (MGI:106915)
chr10	75279725	75401916	10q22.2	10q22.2	613902	ZNF503, NOLZ1	Zinc finger protein 503	ZNF503	84858	ENSG00000165655			Zfp503 (MGI:1353644)
chr10	75431624	76560168	10q22.3	10q22.2-q22.3	614537	LRMDA, C10orf11, OCA7	Leucine-rich melanocyte differentiation-associated protein	LRMDA	83938	ENSG00000148655		Albinism, oculocutaneous, type VII, 615179 (3), Autosomal recessive	Lrmda (MGI:1923883)
chr10	75900001	80300000	10q22.3		608078	SCZD11	Schizophrenia susceptibility locus, chromosome 10q-related		404686		between D10S1677 and D10S1753	{Schizophrenia}, 181500 (2), Autosomal dominant	
chr10	75900001	80300000	10q22.3		607965	SLEN1	Systemic lupus erythematosus with nephritis, susceptibility to, 1		192677			{Systemic lupus erythematosus with nephritis, susceptibility to, 1}, 607965 (2)	
chr10	75900001	80300000	10q22.3		612388	SS3	Sarcoidosis, susceptibility to, 3		100196919		associated with rs2789679 and rs1049550	{Sarcoidosis, susceptibility to, 3}, 612388 (2)	
chr10	76869602	77637808	10q22.3	10q22.3	600150	KCNMA1, SLO, PNKD3, CADEDS, IEG16, LIWAS	Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (slowpoke, Drosophila, homolog of)	KCNMA1	3778	ENSG00000156113		{Epilepsy, idiopathic generalized, susceptibility to, 16}, 618596 (3), Autosomal dominant; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3), Autosomal dominant; Cerebellar atrophy, developmental delay, and seizures, 617643 (3), Autosomal recessive; Liang-Wang syndrome, 618729 (3), Autosomal dominant	Kcnma1 (MGI:99923)
chr10	77790791	77940736	10q23	10q22.3	604090	DLG5, PDLG, KIAA0583, YUVOB	Discs large MAGUK scaffold protein 5	DLG5	9231	ENSG00000151208		Yuksel-Vogel-Bauser syndrome, 620703 (3), Autosomal recessive	Dlg5 (MGI:1918478)
chr10	77975149	78029515	10q22.3	10q22.3	614258	POLR3A, RPC1, RPC155, ADDH, HLD7, WDRTS	Polymerase III, RNA, subunit A	POLR3A	11128	ENSG00000148606		Wiedemann-Rautenstrauch syndrome, 264090 (3), Autosomal recessive; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3), Autosomal recessive	Polr3a (MGI:2681836)
chr10	78033863	78056806	10q22-q23	10q22.3	602412	RPS24, DBA3	Ribosomal protein S24	RPS24	6229	ENSG00000138326		Diamond-blackfan anemia 3, 610629 (3), Autosomal dominant	Rps24 (MGI:98147)
chr10	79068966	79316519	10q22.3	10q22.3	607159	ZMIZ1, RAI17, KIAA1224, ZIMP10, NEDDFSA	Zinc finger MIZ-domain containing 1	ZMIZ1	57178	ENSG00000108175		Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, 618659 (3), Autosomal dominant	Zmiz1 (MGI:3040693)
chr10	79347469	79355334	10q22-q23	10q22.3	604486	PPIF, CYP3	Peptidylprolyl-cis-trans-isomerase, mitochondrial	PPIF	10105	ENSG00000108179			Ppif (MGI:2145814)
chr10	79555852	79560407	10q22-q23	10q22.3	178642	SFTPA2, SPA2, COLEC5, ILD2	Surfactant, pulmonary-associated protein A2	SFTPA2	729238	ENSG00000185303	contiguous with SFTPA1	Interstitial lung disease 2, 178500 (3), Autosomal dominant	Sftpa1 (MGI:109518)
chr10	79610939	79615455	10q22.2-q23.1	10q22.3	178630	SFTPA1, SFTP1, ILD1	Surfactant, pulmonary-associated protein A1	SFTPA1	653509	ENSG00000122852	contiguous with SFTPA2	Interstitial lung disease 1, 619611 (3), Autosomal recessive, Autosomal dominant	Sftpa1 (MGI:109518)
chr10	79691500	79826594	10q23.2	10q22.3	618639	NUTM2B-AS1, OPML1	NUTM2B antisense RNA 1	NUTM2B-AS1	101060691	ENSG00000225484	mutation identified in 1 OPML1 family	?Oculopharyngeal myopathy with leukoencephalopathy 1, 618637 (3), Autosomal dominant	
chr10	79937740	79982383	10q23.3	10q22.3	178635	SFTPD, SFTP4	Surfactant, pulmonary-associated protein D	SFTPD	6441	ENSG00000133661			Sftpd (MGI:109515)
chr10	80131661	80145359	10q22.3	10q22.3	612857	PLAC9	Placenta-specific gene 9	PLAC9	219348	ENSG00000189129			Plac9 (MGI:2663998)
chr10	80150889	80205808	10q22.3-q23.1	10q22.3	602572	ANXA11, ANX11, ALS23, IBMWMA	Annexin A11 (annexin XI)	ANXA11	311	ENSG00000122359		Amyotrophic lateral sclerosis 23, 617839 (3), Autosomal dominant; Inclusion body myopathy and brain white matter abnormalities, 619733 (3), Autosomal dominant	Anxa11 (MGI:108481)
chr10	80271820	80289658	10q22	10q22.3	610550	MAT1A, MATA1, SAMS1	Methionine adenosyltransferase I, alpha	MAT1A	4143	ENSG00000151224		Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3), Autosomal recessive, Autosomal dominant; Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3), Autosomal recessive, Autosomal dominant	Mat1a (MGI:88017)
chr10	80300001	104000000	10q23-q24		611920	CPROTQ	C-reactive protein QTL		100188860		max lod at D10S1239	[C-reactive protein QTL], 611920 (2)	
chr10	80300001	95300000	10q23		612242	DEL10q23, C10DELq23	Chromosome 10q22.3-q23.2 deletion syndrome					Chromosome 10q22.3-q23.2 deletion syndrome, 612242 (4)	
chr10	80300001	104000000	10q23-q24		612288	IBD20	Inflammatory bowel disease 20		100190788		associated with rs11190140	{Inflammatory bowel disease 20}, 612288 (2)	
chr10	80336013	80356755	10q23.1	10q23.1	615154	DYDC1	DPY30 domain-containing protein 1	DYDC1	143241	ENSG00000170788			Dydc1 (MGI:1916746)
chr10	80407829	80437115	10q23.1	10q23.1	617165	FAM213A, PAMM	Family with sequence similarity 213, member A	PRXL2A	84293	ENSG00000122378			Prxl2a (MGI:1917814)
chr10	81875194	82987179	10q22	10q23.1	605533	NRG3	Neuregulin 3	NRG3	10718	ENSG00000185737			Nrg3 (MGI:1097165)
chr10	84139509	84153568	10q23.1	10q23.1	619205	GHITM, MICS1, TMBIM5	Growth hormone-inducible transmembrane protein	GHITM	27069	ENSG00000165678			Ghitm (MGI:1913342)
chr10	84167228	84172076	10q23.1	10q23.1	617434	HOST2	Long noncoding RNA HOST2	CERNA2	642934	ENSG00000285972			
chr10	84173801	84185294	10q23.1	10q23.1	617775	C10orf99, CSBF, AP57	Chromosome 10 open reading frame 99	GPR15LG	387695	ENSG00000188373			Gpr15lg (MGI:1917295)
chr10	84194537	84219621	10q23.1	10q23.1	609502	CDHR1, PCDH21, PRCAD, CORD15, RP65	Cadherin-related family, member 1	CDHR1	92211	ENSG00000148600		Macular dystrophy, retinal, 613660 (3), Autosomal recessive; Cone-rod dystrophy 15, 613660 (3), Autosomal recessive; Retinitis pigmentosa 65, 613660 (3), Autosomal recessive	Cdhr1 (MGI:2157782)
chr10	84231520	84241546	10q23.1	10q23.1	616103	LRIT1, PAL	Leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein 1	LRIT1	26103	ENSG00000148602	REc, A		Lrit1 (MGI:2385320)
chr10	84245053	84259960	10q23	10q23.1	600342	RGR, RP44	Retinal G protein coupled receptor	RGR	5995	ENSG00000148604		Retinitis pigmentosa 44, 613769 (3)	Rgr (MGI:1929473)
chr10	84328589	84518517	10q23.1	10q23.1	619944	CCSER2, FAM190B, KIAA1128	Coiled-coil serine-rich protein 2	CCSER2	54462	ENSG00000107771			Ccser2 (MGI:101859)
chr10	85599552	86366795	10q22	10q23.1-q23.2	610659	GRID1, KIAA1220	Glutamate receptor, inotropic, delta 1	GRID1	2894	ENSG00000182771			Grid1 (MGI:95812)
chr10	86264694	86264788	10q23.2	10q23.2	611190	MIR346	Micro RNA 346	MIR346	442911	ENSG00000199104			Mir346 (MGI:3619362)
chr10	86435256	86521792	10q23.2	10q23.2	610754	WAPAL, KIAA0261, FOE, WAPL	Wings apart-like protein, Drosophila, homolog of	WAPL	23063	ENSG00000062650			Wapl (MGI:2675859)
chr10	86654547	86666460	10q23.2	10q23.2	606665	OPN4	Opsin 4	OPN4	94233	ENSG00000122375			Opn4 (MGI:1353425)
chr10	86666788	86736072	10q22.2-q23.3	10q23.2	605906	LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3	LIM domain binding 3	LDB3	11155	ENSG00000122367		Left ventricular noncompaction 3, 601493 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 24, 601493 (3), Autosomal dominant; Myopathy, myofibrillar, 4, 609452 (3), Autosomal dominant; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3), Autosomal dominant	Ldb3 (MGI:1344412)
chr10	86755763	86932844	10q22.3	10q23.2	601299	BMPR1A, ACVRLK3, ALK3	Bone morphogenetic protein receptor, type IA	BMPR1A	657	ENSG00000107779		Polyposis syndrome, hereditary mixed, 2, 610069 (3); Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant	Bmpr1a (MGI:1338938)
chr10	86935540	86957615	10q23.2	10q23.2	608925	MMRN2	Multimerin 2	MMRN2	79812	ENSG00000173269			Mmrn2 (MGI:2385618)
chr10	86955759	86963258	10q23.2-q23.3	10q23.2	602998	SNCG, BCSG1	Synuclein, gamma (breast cancer-specific gene 1)	SNCG	6623	ENSG00000173267			Sncg (MGI:1298397)
chr10	87050202	87094843	10q23.3	10q23.2	138130	GLUD1	Glutamate dehydrogenase-1	GLUD1	2746	ENSG00000148672	pseudogene on Xq26-q28	Hyperinsulinism-hyperammonemia syndrome, 606762 (3), Autosomal dominant	Glud1 (MGI:95753)
chr10	87094473	87191465	10q23.2	10q23.2	618029	SHLD2, RINN2, FAM35A	Shield complex, subunit 2	SHLD2	54537	ENSG00000122376			Shld2 (MGI:1922948)
chr10	87504893	87553461	10q23	10q23.2	605391	MINPP1, HIPER1, PCH16	Multiple inositol polyphosphate phosphatase 1	MINPP1	9562	ENSG00000107789		{Thyroid carcinoma, follicular}, 188470 (3), Somatic mutation, Autosomal dominant; Pontocerebellar hypoplasia, type 16, 619527 (3), Autosomal recessive	Minpp1 (MGI:1336159)
chr10	87659878	87747705	10q22-q24	10q23.2-q23.31	603005	PAPSS2, ATPSK2, BCYM4	3'-phosphoadenosine 5'-phosphosulfate synthase 2	PAPSS2	9060	ENSG00000198682		Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3), Autosomal recessive	Papss2 (MGI:1330223)
chr10	87700001	91100000	10q23.31		613006	IDDM24	Diabetes mellitus, insulin-dependent, 24		100303715		associated with rs10509540	{Diabetes mellitus, insulin-dependent, 24}, 613006 (2)	
chr10	87700001	95300000	10q23.3		620760	MLDHR, MP31, PTENURF	Mitochondrial lactate dehydrogenase regulator	MLDHR	133834869				
chr10	87700001	95300000	10q23.3		609578	RCM2	Cardiomyopathy, familial restrictive, 2		619468		max lod at D10S1242	Cardiomyopathy, familial restrictive, 2, 609578 (2)	
chr10	87751512	87841361	10q23.31	10q23.31	614452	ATAD1, THORASE, HKPX4	ATPase family, AAA domain-containing, member 1	ATAD1	84896	ENSG00000138138		Hyperekplexia 4, 618011 (3), Autosomal recessive	Atad1 (MGI:1915229)
chr10	87859158	87863533	10q23	10q23.31	612105	KLLN, CWS4	Killin	KLLN	100144748	ENSG00000227268		Cowden syndrome 4, 615107 (3), Isolated cases	
chr10	87863625	87971930	10q23.31	10q23.31	601728	PTEN, MMAC1, GLM2, CWS1	Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	PTEN	5728	ENSG00000171862		{Glioma susceptibility 2}, 613028 (3), Autosomal dominant; {Meningioma}, 607174 (3), Autosomal dominant; Cowden syndrome 1, 158350 (3), Autosomal dominant; Lhermitte-Duclos disease, 158350 (3), Autosomal dominant; Prostate cancer, somatic, 176807 (3); Macrocephaly/autism syndrome, 605309 (3), Autosomal dominant	Pten (MGI:109583)
chr10	88171523	88583318	10q23.33	10q23.31	609360	RNLS, C10orf59	Renalase	RNLS	55328	ENSG00000184719			Rnls (MGI:1915045)
chr10	88582907	88623184	10q23.31	10q23.31	613921	LIPJ, LIPL1	Lipase J	LIPJ	142910	ENSG00000204022			
chr10	88664442	88678814	10q23.31	10q23.31	601980	LIPF	Lipase F, gastric type	LIPF	8513	ENSG00000182333			Lipf (MGI:1914967)
chr10	88706249	88752776	10q23.31	10q23.31	613922	LIPK, LIPL2	Lipase family, member K	LIPK	643414	ENSG00000204021			Lipk (MGI:2679259)
chr10	88757226	88779626	10q23.31	10q23.31	613924	LIPN, LIPL4, ARCI8, LI4	Lipase family, member N	LIPN	643418	ENSG00000204020		Ichthyosis, congenital, autosomal recessive 8, 613943 (3), Autosomal recessive	Lipn (MGI:1917416)
chr10	88802730	88820546	10q23.31	10q23.31	613923	LIPM, LIPL3	Lipase family, member M	LIPM	340654	ENSG00000173239			Lipm (MGI:1926003)
chr10	88880245	88923487	10q23	10q23.31	612352	STAMBPL1, KIAA1373	STAM-binding protein-like 1	STAMBPL1	57559	ENSG00000138134			Stambpl1 (MGI:1923880)
chr10	88935074	88991337	10q22-q24	10q23.31	102620	ACTA2, ACTSA, AAT6, MYMY5, SMDYS	Actin, alpha-2, smooth muscle, aorta	ACTA2	59	ENSG00000107796		Smooth muscle dysfunction syndrome, 613834 (3), Autosomal dominant; Aortic aneurysm, familial thoracic 6, 611788 (3), Autosomal dominant; Moyamoya disease 5, 614042 (3)	Acta2 (MGI:87909)
chr10	88964050	89017059	10q24.1	10q23.31	134637	FAS, TNFRSF6, APT1, CD95, ALPS1A	Fas cell surface death receptor	FAS	355	ENSG00000026103		Squamous cell carcinoma, burn scar-related, somatic (3); Autoimmune lymphoproliferative syndrome, type IA, 601859 (3), Autosomal dominant; {Autoimmune lymphoproliferative syndrome}, 601859 (3), Autosomal dominant	Fas (MGI:95484)
chr10	89205629	89207317	10q23	10q23.31	604551	CH25H	Cholesterol 25-hydroxylase	CH25H	9023	ENSG00000138135			Ch25h (MGI:1333869)
chr10	89213572	89251775	10q23.31	10q23.31	613497	LIPA, CESD	Lipase A, lysosomal acid, cholesterol esterase	LIPA	3988	ENSG00000107798	?close to GOT	Wolman disease, 620151 (3), Autosomal recessive; Cholesteryl ester storage disease, 278000 (3), Autosomal recessive	Lipa (MGI:96789)
chr10	89302046	89309271	10q23.3	10q23.31	147040	IFIT2, IFI54, G10P2	Interferon-induced protein with tetratricopeptide repeats 2	IFIT2	3433	ENSG00000119922			Ifit2 (MGI:99449)
chr10	89327997	89340968	10q23.3	10q23.31	604650	IFIT4	Interferon-induced protein with tetratricopeptide repeats 4	IFIT3	3437	ENSG00000119917			Ifit3,Ifit3b (MGI:1101055,MGI:3698419)
chr10	89392623	89406487	10q23.3	10q23.31	147690	IFIT1, IFI56, G10P1, IFNAI1	Interferon-induced protein with tetratricopeptide repeats 1	IFIT1	3434	ENSG00000185745	10q25-q26 = conflicting site		Ifit1,Ifit1bl1,Ifit1bl2 (MGI:2148249,MGI:3650685,MGI:99450)
chr10	89414568	89420997	10q23.31	10q23.31	616135	IFIT5, RI58, ISG58	Interferon-induced protein with tetratricopeptide repeats 5	IFIT5	24138	ENSG00000152778			
chr10	89430299	89556704	10q23.3	10q23.31	611910	SLC16A12, MCT12, CTRCT47	Solute carrier family 16 (monocarboxylic acid transporter), member 12	SLC16A12	387700	ENSG00000152779	mutation identified in 1 CTRCT47 family	Cataract 47, juvenile, with microcornea, 612018 (3), Autosomal dominant	Slc16a12 (MGI:2147716)
chr10	89579495	89645242	10q23	10q23.31	606160	PANK1	Pantothenate kinase 1	PANK1	53354	ENSG00000152782			Pank1 (MGI:1922985)
chr10	89592747	89592827	10q23.31	10q23.31	613189	MIR107, MIRN107	Micro RNA 107	MIR107	406901	ENSG00000198997			Mir107 (MGI:3619063)
chr10	89701590	89774934	10q22-q24	10q23.31	605498	MPHOSPH1, MPP1	M-phase phosphoprotein 1	KIF20B	9585	ENSG00000138182			Kif20b (MGI:2444576)
chr10	90740823	90858039	10q21-q24	10q23.31	182137	HTR7	5-hydroxytryptamine (serotonin) receptor-7, adenylate cyclase-coupled	HTR7	3363	ENSG00000148680			Htr7 (MGI:99841)
chr10	90871974	90908556	10q23.31	10q23.31	606115	RPP30	Ribonuclease P/MRP subunit p30	RPP30	10556	ENSG00000148688			Rpp30 (MGI:1859683)
chr10	90912096	90921087	10q23.31	10q23.31	609599	ANKRD1, CARP	Ankyrin repeat domain-containing protein 1	ANKRD1	27063	ENSG00000148677			Ankrd1 (MGI:1097717)
chr10	91156219	91284337	10q23.32	10q23.32	617407	PCGF5	Polycomb group ring finger protein 5	PCGF5	84333	ENSG00000180628			Pcgf5 (MGI:1923505)
chr10	91409235	91514820	10q23.32	10q23.32	620876	HECTD2	HECT domain E3 ubiquitin protein ligase 2	HECTD2	143279	ENSG00000165338			Hectd2 (MGI:2442663)
chr10	91628442	91633071	10q23-q24	10q23.32	602999	PPP1R3C, PPP1R5	Phosphatase 1, regulatory subunit 3C	PPP1R3C	5507	ENSG00000119938			Ppp1r3c (MGI:1858229)
chr10	91798426	91865475	10q23.32	10q23.32	607128	TNKS2, TANK2, TNKL	Tankyrase 2	TNKS2	80351	ENSG00000107854			Tnks2 (MGI:1921743)
chr10	91906584	91909486	10q23.32	10q23.32	620879	FGFBP3	Fibroblast growth factor-binding protein 3	FGFBP3	143282	ENSG00000174721			Fgfbp3 (MGI:1919764)
chr10	91923770	92031437	10q22-q23	10q23.32	605191	BTAF1, TAFII170, TAF172, MOT1	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kD (Mot1, S. cerevisiae, homolog of)	BTAF1	9044	ENSG00000095564			Btaf1 (MGI:2147538)
chr10	92046692	92291233	10q23.3	10q23.32	610606	CPEB3, KIAA0940	Cytoplasmic polyadenylation element-binding protein 3	CPEB3	22849	ENSG00000107864			Cpeb3 (MGI:2443075)
chr10	92291167	92353964	10q23.3	10q23.32-q23.33	610637	MARCH5	Membrane-associated RING-CH finger protein 5	MARCHF5	54708	ENSG00000198060			Marchf5 (MGI:1915207)
chr10	92451684	92574093	10q23-q25	10q23.33	146680	IDE	Insulin-degrading enzyme	IDE	3416	ENSG00000119912			Ide (MGI:96412)
chr10	92593130	92655395	10q23.33	10q23.33	148760	KIF11, KNSL1, MCLMR	Kinesin family member 11	KIF11	3832	ENSG00000138160		Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, 152950 (3), Autosomal dominant	Kif11 (MGI:1098231)
chr10	92689955	92695647	10q24	10q23.33	604420	HHEX, PRHX, PRH	Hematopoietically expressed homeobox	HHEX	3087	ENSG00000152804			Hhex (MGI:96086)
chr10	92826831	93059490	10q23.33	10q23.33	609672	EXOC6, SEC15L1, SEC15L, SEC15	Exocyst complex component 6	EXOC6	54536	ENSG00000138190			Exoc6 (MGI:1351611)
chr10	93060798	93069540	10q23.3	10q23.33	608428	CYP26C1, FFDD4	Cytochrome P450, subfamily XXVIC, polypeptide 1	CYP26C1	340665	ENSG00000187553		Focal facial dermal dysplasia 4, 614974 (3), Autosomal recessive	Cyp26c1 (MGI:2679699)
chr10	93073475	93077885	10q23-q24	10q23.33	602239	CYP26A1	Cytochrome p450, subfamily XXVIA, polypeptide 1	CYP26A1	1592	ENSG00000095596			Cyp26a1 (MGI:1096359)
chr10	93306429	93482334	10q24	10q23.33	604603	MYOF, FER1L3, HAE7	Myoferlin	MYOF	26509	ENSG00000138119	mutation identified in 1 HAE7 family	?Angioedema, hereditary, 7, 619366 (3), Autosomal dominant	Myof (MGI:1919192)
chr10	93496612	93529092	10q23.33	10q23.33	610000	CEP55, MARCH	Centrosomal protein, 55kD	CEP55	55165	ENSG00000138180		Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3), Autosomal recessive	Cep55 (MGI:1921357)
chr10	93566665	93590072	10q23.33	10q23.33	609044	FFAR4, O3FAR1, GPR120, PGR4, BMIQ10	Free fatty acid receptor 4	FFAR4	338557	ENSG00000186188		{Obesity, susceptibility to}, 607514 (3)	Ffar4 (MGI:2147577)
chr10	93591694	93601744	10q24	10q23.33	180250	RBP4, RDCCAS, MCOPCB10	Retinol-binding protein-4, interstitial	RBP4	5950	ENSG00000138207	just centromeric of CYP2C cluster	Microphthalmia/coloboma 10, 616428 (3), Autosomal dominant; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3), Autosomal recessive	Rbp4 (MGI:97879)
chr10	93612537	93666010	10q24	10q23.33	600827	PDE6C, PDEA2, COD4	Phosphodiesterase 6C	PDE6C	5146	ENSG00000095464		Cone dystrophy 4, 613093 (3), Autosomal recessive	Pde6c (MGI:105956)
chr10	93667883	93702959	10q23.33	10q23.33	608866	FRA10AC1, FRA10A, C10orf4, NEDGFC	FRA10A associated CGG repeat 1	FRA10AC1	118924	ENSG00000148690		Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, 620113 (3), Autosomal recessive	Fra10ac1 (MGI:1917817)
chr10	93757936	93798159	10q24	10q23.33	604619	LGI1, EPT, ETL1, ADLTE, ADPEAF	Leucine-rich gene, glioma-inactivated, 1	LGI1	9211	ENSG00000108231		Epilepsy, familial temporal lobe, 1, 600512 (3), Autosomal dominant	Lgi1 (MGI:1861691)
chr10	93893978	93909830	10q23.33	10q23.33	617167	SLC35G1, POST, TMEM20, C10orf60	Solute carrier family 35, member G1	SLC35G1	159371	ENSG00000176273			Slc35g1 (MGI:2444789)
chr10	93993931	94332823	10q23	10q23.33	608414	PLCE1, KIAA1516, NPHS3	Phospholipase C, epsilon-1	PLCE1	51196	ENSG00000138193		Nephrotic syndrome, type 3, 610725 (3), Autosomal recessive	Plce1 (MGI:1921305)
chr10	94314907	94362939	10q24	10q23.33	610769	NOC3L, FAD24	NOC3-like DNA replication regulator	NOC3L	64318	ENSG00000173145			Noc3l (MGI:1932610)
chr10	94402541	94536332	10q23.33	10q23.33	620003	TBC1D12, KIAA0608	TBC1 domain family, member 12	TBC1D12	23232	ENSG00000108239			Tbc1d12 (MGI:2384803)
chr10	94545788	94613905	10q23.3-q24.2	10q23.33	603946	HELLS, LSH, ICF4	Helicase, lymphoid-specific	HELLS	3070	ENSG00000119969		Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3), Autosomal recessive	Hells (MGI:106209)
chr10	94683729	94736190	10q23.33	10q23.33	601131	CYP2C18	Cytochrome P450, subfamily IIC, polypeptide 18	CYP2C18	1562	ENSG00000108242			Cyp2c29,Cyp2c37,Cyp2c38,Cyp2c39,Cyp2c50,Cyp2c55 (MGI:103238,MGI:1306806,MGI:1306818,MGI:1306819,MGI:1919332,MGI:2147497)
chr10	94762681	94855547	10q24.1-q24.3	10q23.33	124020	CYP2C, CYP2C19	Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase)	CYP2C19	1557	ENSG00000165841	4 genes in order: cen-C18-C19-C9-C8-tel	Proguanil poor metabolizer, 609535 (3), Autosomal recessive; Mephenytoin poor metabolizer, 609535 (3), Autosomal recessive; Clopidogrel, impaired responsiveness to, 609535 (3), Autosomal recessive; Omeprazole poor metabolizer, 609535 (3), Autosomal recessive	Cyp2c29,Cyp2c37,Cyp2c38,Cyp2c39,Cyp2c50 (MGI:103238,MGI:1306806,MGI:1306818,MGI:1306819,MGI:2147497)
chr10	94938658	94990091	10q24	10q23.33	601130	CYP2C9	Cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9	CYP2C9	1559	ENSG00000138109		Warfarin sensitivity, 122700 (3), Autosomal dominant; Tolbutamide poor metabolizer (3)	Cyp2c29,Cyp2c37,Cyp2c38,Cyp2c39,Cyp2c50,Cyp2c65,Cyp2c66 (MGI:103238,MGI:1306806,MGI:1306818,MGI:1306819,MGI:1917138,MGI:1919553,MGI:2147497)
chr10	95036772	95069497	10q23.3	10q23.33	601129	CYP2C8, CYP2C8DM	Cytochrome P450, subfamily IIc, polypeptide 8	CYP2C8	1558	ENSG00000138115		{Drug metabolism, altered, CYP2C8-related}, 618018 (3)	Cyp2c29,Cyp2c37,Cyp2c38,Cyp2c39,Cyp2c50,Cyp2c65,Cyp2c66 (MGI:103238,MGI:1306806,MGI:1306818,MGI:1306819,MGI:1917138,MGI:1919553,MGI:2147497)
chr10	95237572	95291003	10q26	10q23.33	605900	PDLIM1, CLP36, CLIM1	PDZ and LIM domain protein 1	PDLIM1	9124	ENSG00000107438			Pdlim1 (MGI:1860611)
chr10	95300001	104000000	10q24		605526	AD6	Alzheimer disease 6		64851			Alzheimer disease 6, 605526 (2)	
chr10	95300001	110100000	10q24.1-q25.1		620378	CMTD1A	Charcot-Marie-Tooth disease, dominant intermediate A		130068899			Charcot-Marie-Tooth disease, dominant intermediate A, 620378 (2), Autosomal dominant	
chr10	95300001	104000000	10q24		619545	HYPOFP	Hypoplastic femurs and pelvis				duplication of ~500kb on 10q24	Hypoplastic femurs and pelvis, 619545 (4), Autosomal dominant	
chr10	95300001	104000000	10q24		246560	SHFM3, SHSF3, DUP10q24, C10DUPq24	Split-hand/foot malformation 3 (Chromosome 10q24 duplication syndrome)				contiguous gene duplication syndrome	Split-hand/foot malformation 3, gene duplication syndrome, 246560 (4), Autosomal dominant	
chr10	95311773	95561371	10q23.3-q24.1	10q24.1	605264	SORBS1, SH3D5, SH3P12, KIAA1296	Sorbin and SH3 domain containing 1	SORBS1	10580	ENSG00000095637			Sorbs1 (MGI:700014)
chr10	95605941	95656711	10q24.3	10q24.1	138250	ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3	Aldehyde dehydrogenase 18 family, member A1 (1-pyrroline-5-carboxylate synthetase)	ALDH18A1	5832	ENSG00000059573	GOT1 and GSAS in same pathway	Spastic paraplegia 9A, autosomal dominant, 601162 (3), Autosomal dominant; Cutis laxa, autosomal recessive, type IIIA, 219150 (3), Autosomal recessive; Spastic paraplegia 9B, autosomal recessive, 616586 (3), Autosomal recessive; Cutis laxa, autosomal dominant 3, 616603 (3), Autosomal dominant	Aldh18a1 (MGI:1888908)
chr10	95663401	95693927	10q24.1	10q24.1	613847	TCTN3, TECT3, C10orf61, OFD4, JBTS18	Tectonic family, member 3	TCTN3	26123	ENSG00000119977		Joubert syndrome 18, 614815 (3), Autosomal recessive; Orofaciodigital syndrome IV, 258860 (3), Autosomal recessive	Tctn3 (MGI:1914840)
chr10	95694186	95877266	10q24	10q24.1	601752	ENTPD1, CD39, SPG64	Ectonucleoside triphosphate diphosphohydrolase 1 (CD39 antigen)	ENTPD1	953	ENSG00000138185		Spastic paraplegia 64, autosomal recessive, 615683 (3), Autosomal recessive	Entpd1 (MGI:102805)
chr10	96043068	96060870	10q24.1	10q24.1	620395	CCNJ	Cyclin J	CCNJ	54619	ENSG00000107443			Ccnj (MGI:2443297)
chr10	96129715	96205291	10q24.1	10q24.1	617733	ZNF518A, KIAA0335	Zinc finger protein 518A	ZNF518A	9849	ENSG00000177853			Zfp518a (MGI:1919922)
chr10	96189171	96271569	10q23.2	10q24.1	604515	BLNK, SLP65, AGM4	B-cell linker protein (SH2 domain-containing leukocyte protein, 65kD)	BLNK	29760	ENSG00000095585	mutation identified in 1 AGM4 family	?Agammaglobulinemia 4, 613502 (3), Autosomal recessive	Blnk (MGI:96878)
chr10	96304434	96338564	10q23-q24	10q24.1	187410	DNTT, TDT	Terminal deoxynucleotidyltransferase	DNTT	1791	ENSG00000107447			Dntt (MGI:98659)
chr10	96343221	96359002	10q24	10q24.1	617200	OPALIN, TMEM10, TMP10	Oligodendrocytic myelin paranodal and inner loop protein	OPALIN	93377	ENSG00000197430			Opalin (MGI:2657025)
chr10	96364608	96513926	10q23-q24	10q24.1	606743	TLL2, KIAA0932	Tolloid-like 2	TLL2	7093	ENSG00000095587			Tll2 (MGI:1346044)
chr10	96518110	96587012	10q24.1	10q24.1	616872	TM9SF3, SMBP	Transmembrane 9 superfamily, member 3	TM9SF3	56889	ENSG00000077147			Tm9sf3 (MGI:1914262)
chr10	96593315	96720514	10q24.1	10q24.1	607942	PIK3AP1, BCAP, FLJ35564	Phosphoinositide 3-kinase adaptor protein 1	PIK3AP1	118788	ENSG00000155629			Pik3ap1 (MGI:1933177)
chr10	96832298	96995956	10q24.1	10q24.1	607698	LCOR, MLR2, KIAA1795	Ligand-dependent nuclear receptor corepressor	LCOR	84458	ENSG00000196233			Lcor (MGI:2443930)
chr10	96998038	97185959	10q24.1	10q24.1	603742	SLIT1, SLIL1, MEGF4	SLIT guidance ligand 1	SLIT1	6585	ENSG00000187122			Slit1 (MGI:1315203)
chr10	97222179	97292637	10q24.1	10q24.1	611587	ARHGAP19	RHO GTPase-activating protein 19	ARHGAP19	84986	ENSG00000213390			Arhgap19 (MGI:1918335)
chr10	97319271	97321915	10q24.1	10q24.1	602503	FRAT1	Frequently rearranged in advanced T-cell lymphomas 1	FRAT1	10023	ENSG00000165879			Frat1,Peg12 (MGI:109450,MGI:1351637)
chr10	97332497	97334729	10q24.1	10q24.1	605006	FRAT2	Frequently rearranged in advanced T-cell lymphomas 2	FRAT2	23401	ENSG00000181274			Frat2 (MGI:2673967)
chr10	97356357	97401370	10q24.1	10q24.1	617723	RRP12, KIAA0690	Ribosomal RNA-processing protein 12, S. cerevisiae, homolog of	RRP12	23223	ENSG00000052749			Rrp12 (MGI:2147437)
chr10	97426191	97433444	10q25.3	10q24.1	172250	PGAM1	Phosphoglycerate mutase A, nonmuscle form	PGAM1	5223	ENSG00000171314			Pgam1 (MGI:97552)
chr10	97435909	97446006	10q24.1	10q24.1	606493	EXOSC1, CSL4, PCH1F	Exosome component 1	EXOSC1	51013	ENSG00000171311	mutation identified in 1 PCH1F patient	?Pontocerebellar hypoplasia, type 1F, 619304 (3), Autosomal recessive	Exosc1 (MGI:1913833)
chr10	97446175	97457370	10q24	10q24.1	616750	ZDHHC16, APH2	Zinc finger DHHC domain-containing protein 16	ZDHHC16	84287	ENSG00000171307			Zdhhc16 (MGI:1921418)
chr10	97458324	97498794	10q24.1	10q24.1	614777	SLCO1B7, MMS19, MMS19L	Solute carrier organic anion transporter family, member 1B7	MMS19	64210	ENSG00000155229			Mms19 (MGI:1919449)
chr10	97498924	97571206	10q24.1-q24.2	10q24.1-q24.2	616388	UBTD1	Ubiquitin domain-containing protein 1	UBTD1	80019	ENSG00000165886			Ubtd1 (MGI:2385092)
chr10	97572441	97583884	10q23.31-q23.32	10q24.2	610734	ANKRD2, ARPP	Ankyrin repeat domain-containing protein 2	ANKRD2	26287	ENSG00000165887			Ankrd2 (MGI:1861447)
chr10	97584389	97612802	10q24.2	10q24.2	613597	HOGA1, DHDPSL, HP3	4-hydroxy-2-oxoglutarate aldolase 1	HOGA1	112817	ENSG00000241935		Hyperoxaluria, primary, type III, 613616 (3), Autosomal recessive	Hoga1 (MGI:1914682)
chr10	97614555	97634156	10q24.2	10q24.2	617736	MORN4, RTP, UTA	MORN repeat-containing protein 4	MORN4	118812	ENSG00000171160			Morn4 (MGI:2449568)
chr10	97640671	97676434	10q24	10q24.2	609763	PI4K2A, NEDMSB	Phosphatidylinositol 4-kinase type 2 alpha	PI4K2A	55361	ENSG00000155252		Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, 620732 (3), Autosomal recessive	Pi4k2a (MGI:1934031)
chr10	97677424	97687241	10q24.2	10q24.2	618537	AVPI1, VIT32	Arginine vasopressin-induced protein 1	AVPI1	60370	ENSG00000119986			Avpi1 (MGI:1916784)
chr10	97713730	97718150	10q24.2	10q24.2	616970	MARVELD1, MARVD1	Marvel domain-containing protein 1	MARVELD1	83742	ENSG00000155254			Marveld1 (MGI:2147570)
chr10	97737128	97760895	10q24.2	10q24.2	610243	ZFYVE27	Zinc finger FYVE domain-containing protein 27	ZFYVE27	118813	ENSG00000155256			Zfyve27 (MGI:1919602)
chr10	97766751	97771999	10q24.1	10q24.2	604158	SFRP5, SARP3	Secreted frizzled-related protein 5	SFRP5	6425	ENSG00000120057			Sfrp5 (MGI:1860298)
chr10	97849843	97871578	10q22	10q24.2	614189	GOLGA7B, C10orf132	Golgin A7 family, member B	GOLGA7B	401647	ENSG00000155265			Golga7b (MGI:1918396)
chr10	97865000	98030621	10q24.2	10q24.2	606276	CRTAC1, CEP68, LOTUS	Cartilage acidic protein 1	CRTAC1	55118	ENSG00000095713			Crtac1 (MGI:1920082)
chr10	98247690	98268194	10q24	10q24.2	607318	LOXL4	Lysyl oxidate-like 4	LOXL4	84171	ENSG00000138131			Loxl4 (MGI:1914823)
chr10	98383568	98415182	10q24.2	10q24.2	617889	PYROXD2, C10orf33, YUEF	Pyridine nucleotide-disulphide oxidoreductase domain-containing protein 2	PYROXD2	84795	ENSG00000119943			Pyroxd2 (MGI:1921830)
chr10	98413948	98446935	10q23.1	10q24.2	604982	HPS1	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	HPS1	3257	ENSG00000107521		Hermansky-Pudlak syndrome 1, 203300 (3), Autosomal recessive	Hps1 (MGI:2177763)
chr10	98457077	99315951	10q23-q24	10q24.2	613469	HPSE2, HPA2, UFS1	Heparanase 2	HPSE2	60495	ENSG00000172987		Urofacial syndrome 1, 236730 (3), Autosomal recessive	Hpse2 (MGI:2685814)
chr10	99329356	99394330	10q23-q24	10q24.2	607802	CNNM1, ACDP1	Cyclin M1 (ancient conserved domain protein 1)	CNNM1	26507	ENSG00000119946			Cnnm1 (MGI:1891366)
chr10	99396870	99430624	10q24.1-q25.1	10q24.2	138180	GOT1, ASTQTL1	Glutamic-oxaloacetic transaminase 1, soluble	GOT1	2805	ENSG00000120053	10q26.1 = conflicting localization	Aspartate aminotransferase, serum level of, QTL1, 614419 (3)	Got1 (MGI:95791)
chr10	99532942	99536524	10q24.2	10q24.2	606727	NKX2C, NK2.3, CSX3	NK2, Drosophila, homolog of, C	NKX2-3	159296	ENSG00000119919			Nkx2-3 (MGI:97348)
chr10	99610522	99659286	10q24	10q24.2	609767	SLC25A28, MRS4L, NPD016	Solute carrier family 25 (mitochondrial carrier), member 28	SLC25A28	81894	ENSG00000155287			Slc25a28 (MGI:2180509)
chr10	99659509	99711241	10q23-q24	10q24.2	616753	ENTPD7, LALP1	Ectonucleoside triphosphate diphosphohydrolase 7	ENTPD7	57089	ENSG00000198018			Entpd7 (MGI:2135885)
chr10	99694293	99732127	10q24	10q24.2	603646	COX15, MC4DN6	Cytochrome c oxidase, subunit 15	COX15	1355	ENSG00000014919		Mitochondrial complex IV deficiency, nuclear type 6, 615119 (3), Autosomal recessive	Cox15 (MGI:1920112)
chr10	99732234	99756134	10q24	10q24.2	610101	CUTC	CutC copper transporter	CUTC	51076	ENSG00000119929			Cutc (MGI:1913638)
chr10	99782640	99852594	10q24	10q24.2	601107	ABCC2, CMOAT	ATP-binding cassette, subfamily C, member 2 (canalicular multispecific organic anion transporter)	ABCC2	1244	ENSG00000023839		Dubin-Johnson syndrome, 237500 (3), Autosomal recessive	Abcc2 (MGI:1352447)
chr10	99875571	100009947	10q24.2	10q24.2	611282	DNMBP, TUBA, KIAA1010, CTRCT48	Dynamin-binding protein	DNMBP	23268	ENSG00000107554		Cataract 48, 618415 (3), Autosomal recessive	Dnmbp (MGI:1917352)
chr10	100042193	100081869	10q24.2	10q24.2	603103	CPN1, SCPN, CPN	Carboxypeptidase N, polypeptide 1, 50-kD	CPN1	1369	ENSG00000120054		Carboxypeptidase N deficiency, 212070 (3), Autosomal recessive	Cpn1 (MGI:2135874)
chr10	100150094	100186029	10q24.31	10q24.31	611604	ERLIN1, SPG62	Endoplasmic reticulum lipid raft-associated protein 1	ERLIN1	10613	ENSG00000107566		Spastic paraplegia 62, autosomal recessive, 615681 (3), Autosomal recessive	Erlin1 (MGI:2387613)
chr10	100186319	100229596	10q24	10q24.31	600664	CHUK, IKBKA, NFKBIKA, IKKA, IKK1, BPS2	Component of nuclear factor kappa-B kinase complex	CHUK	1147	ENSG00000213341	mutation identified in 1 BPS2 patient and 1 family	?Popliteal pterygium syndrome, Bartsocas-Papas type 2, 619339 (3), Autosomal recessive; ?Cocoon syndrome, 613630 (3), Autosomal recessive	Chuk (MGI:99484)
chr10	100232298	100267638	10q24.31	10q24.31	616120	CWF19L1, C19L1, SCAR17	CWF19-like cell cycle control factor 1	CWF19L1	55280	ENSG00000095485		Spinocerebellar ataxia, autosomal recessive 17, 616127 (3), Autosomal recessive	Cwf19l1 (MGI:1919752)
chr10	100237156	100237302	10q24.31	10q24.31	611330	SNORA12	Small nucleolar RNA, H/ACA box, 12	SNORA12	677800	ENSG00000212464	in intron 11 of CWF19L1		
chr10	100273278	100286680	10q24.31	10q24.31	609768	BLOC1S2, BLOS2	Biogenesis of lysosome-related organelles complex 1, subunit 2	BLOC1S2	282991	ENSG00000196072			Bloc1s2 (MGI:1920939)
chr10	100288149	100330228	10q24-q25	10q24.31	604532	PKD2L1, PKDL, PKD2L	Polycystin L	PKD2L1	9033	ENSG00000107593			Pkd2l1 (MGI:1352448)
chr10	100347233	100364826	10q24.31	10q24.31	604031	SCD	Stearoyl-CoA desaturase	SCD	6319	ENSG00000099194	pseudogene on chr.17		Scd1,Scd2,Scd3,Scd4 (MGI:1353437,MGI:2670997,MGI:98239,MGI:98240)
chr10	100373576	100388354	10q24.31	10q24.31	616240	OLMALINC, LINC00263, OLMALINCAS	Oligodendrocyte maturation-associated long intergenic noncoding RNA	OLMALINC	90271	ENSG00000235823	OLMALINCAS is on opposite strand overlapping exon 1 of OLMALINC		
chr10	100463009	100483744	10q24	10q24.31	601396	WNT8B	Wingless-type MMTV integration site family, member 8B	WNT8B	7479	ENSG00000075290			Wnt8b (MGI:109485)
chr10	100486647	100519861	10q24.3	10q24.31	610258	SEC31B, SEC31L2	SEC31 homolog B, COPII coat complex component	SEC31B	25956	ENSG00000075826			Sec31b (MGI:2685187)
chr10	100523729	100529923	10q23.2-q23.33	10q24.31	602140	NDUFB8, MC1DN32	NADH-ubiquinone oxidoreductase subunit B8	NDUFB8	4714	ENSG00000166136	previously assigned to 12q21	Mitochondrial complex I deficiency, nuclear type 32, 618252 (3), Autosomal recessive	Ndufb8 (MGI:1914514)
chr10	100535943	100559998	10q24	10q24.31	606615	HIF1AN, FIH1	Hypoxia-inducible factor 1-alpha inhibitor	HIF1AN	55662	ENSG00000166135			Hif1an (MGI:2442345)
chr10	100735396	100829944	10q24.3-q25.1	10q24.31	167409	PAX2, PAPRS, FSGS7	Paired box homeotic gene-2	PAX2	5076	ENSG00000075891		Glomerulosclerosis, focal segmental, 7, 616002 (3), Autosomal dominant; Papillorenal syndrome, 120330 (3), Autosomal dominant	Pax2 (MGI:97486)
chr10	100912963	100965134	10q24	10q24.31	610348	SLF2, FAM178A, C10orf6, ATELS1	SMC5-SMC6 complex localization factor 2	SLF2	55719	ENSG00000119906		Atelis syndrome 1, 620184 (3), Autosomal recessive	Slf2 (MGI:1924968)
chr10	100969504	100985616	10q24.31	10q24.31	618991	SEMA4G	Semaphorin 4G	SEMA4G	57715	ENSG00000095539			Sema4g (MGI:1347047)
chr10	100977820	100987497	10q24	10q24.31	611848	MRPL43	Mitochondrial ribosomal protein L43	MRPL43	84545	ENSG00000055950			Mrpl43 (MGI:2137229)
chr10	100987543	100994403	10q24	10q24.31	606075	TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5	Twinkle mtDNA helicase	TWNK	56652	ENSG00000107815	PEO digenic with POLG	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3), Autosomal dominant; Perrault syndrome 5, 616138 (3), Autosomal recessive	Twnk (MGI:2137410)
chr10	100996588	101007833	10q24.3	10q24.31	610454	LZTS2, KIAA1813, LAPSER1	Leucine zipper, putative tumor suppressor 2	LZTS2	84445	ENSG00000107816			Lzts2 (MGI:2385095)
chr10	101007679	101031129	10q24.3	10q24.31	612971	PDZD7, DFNB57	PDZ domain-containing 7	PDZD7	79955	ENSG00000186862		Deafness, autosomal recessive 57, 618003 (3), Autosomal recessive; {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3), Autosomal recessive; Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3), Autosomal recessive, Digenic dominant	Pdzd7 (MGI:3608325)
chr10	101031234	101041241	10q24.31	10q24.31	615571	SFXN3	Sideroflexin 3	SFXN3	81855	ENSG00000107819			Sfxn3 (MGI:2137679)
chr10	101061989	101068131	10q24.31	10q24.31	609208	KAZALD1	Kazal-type serine peptidase inhibitor domain 1	KAZALD1	81621	ENSG00000107821			Kazald1 (MGI:2147606)
chr10	101089321	101141266	10q24	10q24.31	612734	TLX1NB, TD1	TLX1 neighbor	TLX1NB	100038246	ENSG00000236311			
chr10	101131300	101137789	10q24	10q24.31	186770	TLX1, HOX11, TCL3	T-cell leukemia, homeobox 1	TLX1	3195	ENSG00000107807	t(7;10) or t(10;4) in T-ALL		Tlx1 (MGI:98769)
chr10	101200001	110100000	10q24.32-q25.1		614927	ECTD5	Ectodermal dysplasia 5, hair/nail type		101101769		between D10S1239 and D10S1264	Ectodermal dysplasia 5, hair/nail type, 614927 (2), Autosomal recessive	
chr10	101226994	101229463	10q24	10q24.32	604255	LBX1, LBX1H, CCHS3	Lady bird late, Drosophila, homolog of, 1	LBX1	10660	ENSG00000138136	mutation identified in 1 CCHS3 family	?Central hypoventilation syndrome, congenital, 3, 619483 (3), Autosomal recessive	Lbx1 (MGI:104867)
chr10	101354048	101557313	10q24-q25	10q24.32	603482	BTRC, BTRCP	Beta-transducin repeat-containing protein	BTRC	8945	ENSG00000166167			Btrc (MGI:1338871)
chr10	101578882	101588270	10q23	10q24.32	606343	POLL	Polymerase, DNA, lambda	POLL	27343	ENSG00000166169			Poll (MGI:1889000)
chr10	101588321	101609662	10q24.32	10q24.32	616467	DPCD	Deleted in primary ciliary dyskinesia, mouse, homolog of	DPCD	25911	ENSG00000166171			Dpcd (MGI:1924407)
chr10	101610666	101695295	10q24	10q24.32	608071	FBXW4, DAC, FBW4, FBWD4	F-box and WD repeat domain containing 4	FBXW4	6468	ENSG00000107829			Fbxw4 (MGI:1354698)
chr10	101770109	101780369	10q24	10q24.32	600483	FGF8, HH6	Fibroblast growth factor-8	FGF8	2253	ENSG00000107831		Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3), Autosomal dominant	Fgf8 (MGI:99604)
chr10	101781325	101783446	10q24-q26	10q24.32	606456	NPM3	Nucleophosmin/nucleoplasmin family, member 3	NPM3	10360	ENSG00000107833			Npm3 (MGI:894653)
chr10	101784450	101818444	10q24.1-q24.3	10q24.32	604039	OGA, MGEA5, NCOAT	O-GlcNAcase	OGA	10724	ENSG00000198408			Oga (MGI:1932139)
chr10	101825974	101843800	10q24.32	10q24.32	604661	KCNIP2, KCHIP2	Potassium channel-interacting protein 2	KCNIP2	30819	ENSG00000120049			Kcnip2 (MGI:2135916)
chr10	101845599	102056173	10q24.32	10q24.32	620867	ARMH3, C10orf76	Armadillo-like helical domain-containing protein 3	ARMH3	79591	ENSG00000120029			Armh3 (MGI:1918867)
chr10	102065349	102068036	10q24.32	10q24.32	607522	HPS6, RU	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	HPS6	79803	ENSG00000166189		Hermansky-Pudlak syndrome 6, 614075 (3), Autosomal recessive	Hps6 (MGI:2181763)
chr10	102102088	102121442	10q24-q25	10q24.32	603451	LDB1, CLIM2, NLI	LIM domain-binding factor-1	LDB1	8861	ENSG00000198728			Ldb1 (MGI:894762)
chr10	102119889	102150333	10q24.2-q24.3	10q24.32	617462	PPRC1, PRC, KIAA0595	Peroxisome proliferator-activated receptor-gamma, coactivator-related protein 1	PPRC1	23082	ENSG00000148840			Pprc1 (MGI:2385096)
chr10	102152389	102163870	10q24.32	10q24.32	602394	NOLC1, p130, NOPP140	Nucleolar and coiled-body phosphoprotein 1	NOLC1	9221	ENSG00000166197			Nolc1 (MGI:1918019)
chr10	102224767	102229589	10q24.32	10q24.32	611815	ELOVL3, CIG30	Elongation of very long chain fatty acids-like 3	ELOVL3	83401	ENSG00000119915			Elovl3 (MGI:1195976)
chr10	102230189	102241512	10q25	10q24.32	602669	PITX3, CTPP4, CTRCT11, ASGD1	Paired-like homeodomain transcription factor-3	PITX3	5309	ENSG00000107859		Cataract 11, multiple types, 610623 (3), Autosomal recessive, Autosomal dominant; Anterior segment dysgenesis 1, multiple subtypes, 107250 (3), Autosomal dominant; Cataract 11, syndromic, autosomal recessive, 610623 (3), Autosomal recessive, Autosomal dominant	Pitx3 (MGI:1100498)
chr10	102230643	102382896	10q24	10q24.32	603698	GBF1, CMT2GG	Golgi-specific brefeldin-A resistance factor 1	GBF1	8729	ENSG00000107862		Charcot-Marie-Tooth disease, axonal, type 2GG, 606483 (3), Autosomal dominant	Gbf1 (MGI:1861607)
chr10	102394110	102402529	10q24	10q24.32	164012	NFKB2, LYT10, CVID10	Nuclear factor kappa-B, subunit 2 (p49/p100)	NFKB2	4791	ENSG00000077150		Immunodeficiency, common variable, 10, 615577 (3), Autosomal dominant	Nfkb2 (MGI:1099800)
chr10	102402619	102419946	10q24	10q24.32	602327	PSD	Pleckstrin and Sec7 domain protein	PSD	5662	ENSG00000059915			Psd (MGI:1920978)
chr10	102420836	102423136	10q24.32	10q24.32	610287	FBXL15, JET	F-box and leucine-rich repeat protein 15	FBXL15	79176	ENSG00000107872			Fbxl15 (MGI:1915681)
chr10	102423249	102432574	10q24.32	10q24.32	614142	CUEDC2	Cue domain-containing protein 2	CUEDC2	79004	ENSG00000107874			Cuedc2 (MGI:1914366)
chr10	102436512	102436584	10q24.32	10q24.32	610567	MIR146B	Micro RNA 146B	MIR146B	574447	ENSG00000202569			Mir146b (MGI:3629945)
chr10	102461395	102477045	10q24.32	10q24.32	620255	MFSD13A, TMEM180	Major facilitator superfamily domain-containing protein 13A	MFSD13A	79847	ENSG00000138111			Mfsd13a (MGI:1922396)
chr10	102479229	102502712	10q24.32	10q24.32	605143	ACTR1A, ARP1	Actin-related protein 1A	ACTR1A	10121	ENSG00000138107			Actr1a (MGI:1858964)
chr10	102502819	102633535	10q24-q25	10q24.32	607035	SUFU, SUFUXL, SUFUH, JBTS32, BCNS2	Suppressor of fused	SUFU	51684	ENSG00000107882		{Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant; Joubert syndrome 32, 617757 (3), Autosomal recessive; Basal cell nevus syndrome 2, 620343 (3); {Medulloblastoma}, 155255 (3), Somatic mutation, Autosomal recessive, Autosomal dominant	Sufu (MGI:1345643)
chr10	102644479	102658319	10q24.3	10q24.32	606125	TRIM8, RNF27, GERP, FSGSNEDS	Tripartite motif-containing 8	TRIM8	81603	ENSG00000171206		Focal segmental glomerulosclerosis and neurodevelopmental syndrome, 619428 (3), Autosomal dominant	Trim8 (MGI:1933302)
chr10	102673731	102714397	10q23.3	10q24.32	604695	ARL3, ARFL3, JBTS35, RP83	ADP ribosylation factor-like GTPase 3	ARL3	403	ENSG00000138175		Retinitis pigmentosa 83, 618173 (3), Autosomal dominant; Joubert syndrome 35, 618161 (3), Autosomal recessive	Arl3 (MGI:1929699)
chr10	102714636	102743492	10q24.32	10q24.32	615570	SFXN2	Sideroflexin 2	SFXN2	118980	ENSG00000156398			Sfxn2 (MGI:2137678)
chr10	102743948	102816262	10q24.32	10q24.32	611129	C10orf26, OPAL1	Chromosome 10 open reading frame 26	WBP1L	54838	ENSG00000166272			Wbp1l (MGI:107577)
chr10	102830531	102837413	10q24.3	10q24.32	609300	CYP17A1, CYP17, P450C17	Cytochrome P450, family 17, subfamily A, polypeptide 1 (steroid 17-alpha-hydroxylase)	CYP17A1	1586	ENSG00000148795	at least 2 genes; distal to GOT1	17,20-lyase deficiency, isolated, 202110 (3), Autosomal recessive; 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3), Autosomal recessive	Cyp17a1 (MGI:88586)
chr10	102854259	102864961	10q24.32	10q24.32	616600	BORCS7, C10orf32	BLOC1-related complex, subunit 7	BORCS7	119032	ENSG00000166275			Borcs7 (MGI:1913689)
chr10	102869470	102901899	10q24	10q24.32	611806	AS3MT, CYT19	Arsenic (+3 oxidation state) methyltransferase	AS3MT	57412	ENSG00000214435			As3mt (MGI:1929882)
chr10	102918294	103090222	10q24.33	10q24.32	607803	CNNM2, ACDP2, HOMG6, HOMGSMR	Cyclin M2	CNNM2	54805	ENSG00000148842		Hypomagnesemia 6, renal, 613882 (3), Autosomal dominant; Hypomagnesemia, seizures, and impaired intellectual development 1, 616418 (3), Autosomal recessive, Autosomal dominant	Cnnm2 (MGI:2151054)
chr10	103088017	103193272	10q24.3	10q24.32-q24.33	600417	NT5C2, NT5B, PNT5, SPG45	5' nucleotidase, cytosolic II	NT5C2	22978	ENSG00000076685		Spastic paraplegia 45, autosomal recessive, 613162 (3), Autosomal recessive	Nt5c2 (MGI:2178563)
chr10	103277138	103290346	10q24.33	10q24.33	605338	INA, NF66, NEF5	Internexin, alpha	INA	9118	ENSG00000148798			Ina (MGI:96568)
chr10	103302796	103351140	10q24.33	10q24.33	607816	PCGF6, RNF134, MBLR	Polycomb group ring finger 6	PCGF6	84108	ENSG00000156374			Pcgf6 (MGI:1918291)
chr10	103367976	103389065	10q24-q25.2	10q24.33	601787	TAF5, TAF2D, TAFII100	TAF5 RNA polymerase II, TATA box binding protein-associated factor, 100kD	TAF5	6877	ENSG00000148835			Taf5 (MGI:2442144)
chr10	103389050	103396475	10q24	10q24.33	615204	ATP5MD, USMG5, DAPIT, MC5DN6	ATP synthase membrane subunit DAPIT	ATP5MK	84833	ENSG00000173915		Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, 618683 (3), Autosomal recessive	Atp5mk (MGI:1891435)
chr10	103396626	103446294	10q24.2-q25.1	10q24.33	612333	PDCD11, ALG4, NFBP, KIAA0185	Programmed cell death 11	PDCD11	22984	ENSG00000148843			Pdcd11 (MGI:1341788)
chr10	103446786	103452370	10q24.33	10q24.33	612235	CALHM2, FAM26B	Calcium homeostasis modulator 2	CALHM2	51063	ENSG00000138172			Calhm2 (MGI:1919941)
chr10	103453240	103458900	10q24.33	10q24.33	612234	CALHM1, FAM26C	Calcium homeostasis modulator 1	CALHM1	255022	ENSG00000185933	?Alzheimer disease, 605526		Calhm1 (MGI:3643383)
chr10	103472804	103479240	10q24.33	10q24.33	618263	CALHM3	Calcium homeostasis modulator 3	CALHM3	119395	ENSG00000183128			Calhm3 (MGI:3645665)
chr10	103493705	103592546	10q25.1	10q24.33	603804	NEURL1, NEURL, NEUR1	Neuralized E3 ubiquitin protein ligase 1	NEURL1	9148	ENSG00000107954			Neurl1a (MGI:1334263)
chr10	103594027	103855576	10q24.33	10q24.33	619455	SH3PXD2A, FISH, TKS5	SH3 and PX domains-containing protein 2A	SH3PXD2A	9644	ENSG00000107957			Sh3pxd2a (MGI:1298393)
chr10	103877569	103918184	10q24.33	10q24.33	613128	STN1, OBFC1, AAF44	STN1, CST complex subunit	STN1	79991	ENSG00000107960		Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3), Autosomal recessive	Stn1 (MGI:1915581)
chr10	103967140	104029233	10q24.33-q25.1	10q24.33-q25.1	616563	SLK, LOSK, KIAA0204	STE20-like protein kinase	SLK	9748	ENSG00000065613			Slk (MGI:103241)
chr10	104000001	133797422	10q25-q26		609750	EIG4	Epilepsy, idiopathic generalized, susceptibility to 4		780913		between D16S397 and D16S3095	{Epilepsy, idiopathic generalized, susceptibility to 4}, 609750 (2)	
chr10	104000001	117300000	10q25		603266	IDDM17	Insulin-dependent diabetes mellitus-17		8691			{Diabetes mellitus, insulin-dependent, 17}, 603266 (2)	
chr10	104031286	104085880	10q24.3	10q25.1	113811	COL17A1, BPAG2, ERED, JEB4	Collagen XVII, alpha-1 polypeptide	COL17A1	1308	ENSG00000065618		Epithelial recurrent erosion dystrophy, 122400 (3), Autosomal dominant; Epidermolysis bullosa, junctional 4, intermediate, 619787 (3), Autosomal recessive	Col17a1 (MGI:88450)
chr10	104120166	104126383	10q25.1	10q25.1	616527	SFR1, MEI5, C10orf78	SWI5-dependent homologous recombination repair protein 1	SFR1	119392	ENSG00000156384			Sfr1 (MGI:1915038)
chr10	104129888	104232364	10q25.1	10q25.1	617558	CFAP43, WDR96, C10orf79, SPGF19, HYDNP1	Cilia- and flagella-associated protein 43	CFAP43	80217	ENSG00000197748	mutation identified in 1 HYDNP1 family	Hydrocephalus, normal pressure, 1, 236690 (3), Autosomal dominant; Spermatogenic failure 19, 617592 (3), Autosomal recessive	Cfap43 (MGI:1289258)
chr10	104254173	104267455	10q24-q25	10q25.1	605482	GSTO1	Glutathione S-transferase, omega-1	GSTO1	9446	ENSG00000148834			Gsto1 (MGI:1342273)
chr10	104269184	104304950	10q24-q25	10q25.1	612314	GSTO2	Glutathione S-transferase, omega-2	GSTO2	119391	ENSG00000065621			Gsto2 (MGI:1915464)
chr10	104309700	104338465	10q25.1	10q25.1	620205	ITPRIP, DANGER, KIAA1754	Inositol 1,4,5-trisphosphate receptor-interacting protein	ITPRIP	85450	ENSG00000148841			Itprip (MGI:3042776)
chr10	104338520	104455102	10q25.1	10q25.1	619129	CFAP58, SPGF49	Cilia- and flagella-associated protein 58	CFAP58	159686	ENSG00000120051		Spermatogenic failure 49, 619144 (3), Autosomal recessive	Cfap58 (MGI:2685815)
chr10	104641290	105265242	10q23.3	10q25.1	606285	SORCS3, KIAA1059	SORCS receptor 3	SORCS3	22986	ENSG00000156395			Sorcs3 (MGI:1913923)
chr10	106573663	107181138	10q23.3	10q25.1	606283	SORCS1	Sortilin-related VPS10 domain-containing receptor 1	SORCS1	114815	ENSG00000108018			Sorcs1 (MGI:1929666)
chr10	109864766	109923511	10q25.3	10q25.1	602443	XPNPEP1, SAMP, XPNPEPL	X-prolyl aminopeptidase P1	XPNPEP1	7511	ENSG00000108039			Xpnpep1 (MGI:2180003)
chr10	109996373	110135565	10q24.2-q24.3	10q25.1-q25.2	601568	ADD3, ADDL, CPSQ3	Adducin-3, gamma	ADD3	120	ENSG00000148700	fusion with NUP98 in T-ALL	Cerebral palsy, spastic quadriplegic, 3, 617008 (3), Autosomal recessive	Add3 (MGI:1351615)
chr10	110207605	110287365	10q25	10q25.2	600020	MXI1	MAX-interacting protein 1	MXI1	4601	ENSG00000119950		Prostate cancer, somatic, 176807 (3); Neurofibrosarcoma, somatic (3)	Mxi1 (MGI:97245)
chr10	110290730	110304920	10q23	10q25.2	603519	SMNR, SPF30	Survival motor neuron-related protein	SMNDC1	10285	ENSG00000119953			Smndc1 (MGI:1923729)
chr10	110497907	110511533	10q25	10q25.2	603069	DUSP5, HVH3	Dual-specificity phosphatase-5	DUSP5	1847	ENSG00000138166			Dusp5 (MGI:2685183)
chr10	110567695	110606048	10q25	10q25.2	606062	SMC3, CSPG6, HCAP, BAM, CDLS3	Structural maintenance of chromosomes 3	SMC3	9126	ENSG00000108055		Cornelia de Lange syndrome 3, 610759 (3), Autosomal dominant	Smc3 (MGI:1339795)
chr10	110643245	110839468	10q25.2	10q25.2	613171	RBM20	RNA-binding motif protein 20	RBM20	282996	ENSG00000203867		Cardiomyopathy, dilated, 1DD, 613172 (3), Autosomal dominant	Rbm20 (MGI:1920963)
chr10	110871928	110900006	10q24	10q25.2	608610	PDCD4	Programmed cell death 4	PDCD4	27250	ENSG00000150593			Pdcd4 (MGI:107490)
chr10	110898730	110919366	10q25.2	10q25.2	613605	BBIP1, NCRNA00081, BBIP10, BBS18	BBSome interacting protein 1	BBIP1	92482	ENSG00000214413		Bardet-Biedl syndrome 18, 615995 (3), Autosomal recessive	Bbip1 (MGI:1913610)
chr10	110919370	111013665	10q25	10q25.2	602775	SHOC2, SIAA0862, SOC2, SUR8, NSLH1	SHOC2 leucine-rich repeat scaffold protein	SHOC2	8036	ENSG00000108061		Noonan syndrome-like with loose anagen hair 1, 607721 (3), Autosomal dominant	Shoc2 (MGI:1927197)
chr10	111077029	111080907	10q24-q26	10q25.2	104210	ADRA2A, ADRA2R, FPLD8	Adrenergic, alpha-2A-, receptor	ADRA2A	150	ENSG00000150594	mutation identified in 1 FPLD8 family	?Lipodystrophy, familial partial, type 8, 620679 (3), Autosomal dominant	Adra2a (MGI:87934)
chr10	112149865	112227677	10q24-q26	10q25.2	602395	GPAM	Glycerol-3-phosphate acyltransferase	GPAM	57678	ENSG00000119927			Gpam (MGI:109162)
chr10	112283400	112305038	10q25.2	10q25.2	602653	TECTB	Tectorin, beta	TECTB	6975	ENSG00000119913			Tectb (MGI:109574)
chr10	112374116	112428376	10q25.1-q25.2	10q25.2	605677	ACSL5, FACL5, ACS5, DIAR13	Acyl-CoA synthetase long-chain family member 5	ACSL5	51703	ENSG00000197142	mutation identified in 1 DIAR13 family	?Diarrhea 13, 620357 (3), Autosomal recessive	Acsl5 (MGI:1919129)
chr10	112424412	112447572	10q25.2	10q25.2	618715	ZDHHC6, DHHC6	Zinc finger DHHC-type palmitoyltransferase 6	ZDHHC6	64429	ENSG00000023041			Zdhhc6 (MGI:1914230)
chr10	112446988	112855368	10q25.2	10q25.2	614316	VTI1A, VTI1RP2, MMDS3	Vesicle transport through interaction with T-snares 1A	VTI1A	143187	ENSG00000151532			Vti1a (MGI:1855699)
chr10	112950247	113167678	10q25.3	10q25.2-q25.3	602228	TCF7L2, TCF4	Transcription factor 7-like 2	TCF7L2	6934	ENSG00000148737		{Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant	Tcf7l2 (MGI:1202879)
chr10	113550831	113589602	10q25-q26	10q25.3	603924	HABP2, PHBP, HGFAL, FSAP, NMTC5	Hyaluronan-binding protein 2	HABP2	3026	ENSG00000148702	mutation identified in 1 NMTC5 family	{?Thyroid cancer, nonmedullary, 5}, 616535 (3), Autosomal dominant; {Venous thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant	Habp2 (MGI:1196378)
chr10	113588714	113664041	10q24-q26	10q25.3	602873	NRAP	Nebulin-related anchoring protein	NRAP	4892	ENSG00000197893			Nrap (MGI:1098765)
chr10	113679194	113730909	10q25.1-q25.2	10q25.3	601761	CASP7, MCH3	Caspase 7, apoptosis-related cysteine protease	CASP7	840	ENSG00000165806			Casp7 (MGI:109383)
chr10	113834725	113854394	10q25.1	10q25.3	609682	DCLRE1A, SNM1, SNM1A, KIAA0086	DNA cross-link repair protein 1A	DCLRE1A	9937	ENSG00000198924			Dclre1a (MGI:1930042)
chr10	113854661	113917194	10q25	10q25.3	618277	NHLRC2, FINCA	NHL repeat-containing protein 2	NHLRC2	374354	ENSG00000196865		FINCA syndrome, 618278 (3), Autosomal recessive	Nhlrc2 (MGI:1914116)
chr10	114043866	114046904	10q24-q26	10q25.3	109630	ADRB1, ADRB1R, FNSS2	Adrenergic, beta-1-, receptor	ADRB1	153	ENSG00000043591	mutation identified in 1 FNSS2 family	?[Short sleep, familial natural, 2], 618591 (3), Autosomal dominant; [Resting heart rate], 607276 (3)	Adrb1 (MGI:87937)
chr10	114120862	114174220	10q25.3	10q25.3	619249	CCDC186, CCCP1, C10orf118	Coiled-coil domain-containing protein 186	CCDC186	55088	ENSG00000165813			Ccdc186 (MGI:2445022)
chr10	114174874	114232666	10q25.3	10q25.3	605796	TDRD1	Tudor domain protein 1	TDRD1	56165	ENSG00000095627			Tdrd1 (MGI:1933218)
chr10	114239254	114294500	10q25.3	10q25.3	618281	VWA2, CCSP2, AMACO	von Willebrand factor A domain-containing protein 2	VWA2	340706	ENSG00000165816			Vwa2 (MGI:2684334)
chr10	114280725	114405175	10q25.3	10q25.3	612420	AFAP1L2, XB130, KIAA1914	Actin filament-associated protein 1-like protein 2	AFAP1L2	84632	ENSG00000169129			Afap1l2 (MGI:2147658)
chr10	114431110	114801373	10q25	10q25.3	602330	LIMAB1	LIM actin-binding protein-1	ABLIM1	3983	ENSG00000099204			Ablim1 (MGI:1194500)
chr10	114821780	114899832	10q25.3	10q25.3	617312	FHIP2A, FAM160B1, KIAA1600	FHF complex subunit hook-interacting protein 2A	FHIP2A	57700	ENSG00000151553			Fhip2a (MGI:2147545)
chr10	114938195	114977676	10q25.3	10q25.3	610726	TRUB1, PUS4	TRUB pseudouridine synthase, E. coli, homolog of, 1	TRUB1	142940	ENSG00000165832			Trub1 (MGI:1919383)
chr10	115093365	115948999	10q26	10q25.3	612869	ATRNL1, KIAA0534, ALP	Attractin-like 1	ATRNL1	26033	ENSG00000107518			Atrnl1 (MGI:2147749)
chr10	116056925	116274705	10q26	10q25.3	601496	GFRA1, GDNFRA, GDNFR, RHDA4	GDNF family receptor, alpha-1	GFRA1	2674	ENSG00000151892		Renal hypodysplasia/aplasia 4, 619887 (3), Autosomal recessive	Gfra1 (MGI:1100842)
chr10	116545931	116567855	10q26.1	10q25.3	246600	PNLIP, PNLIPD	Pancreatic lipase	PNLIP	5406	ENSG00000175535	mutation identified in 1 family	?Pancreatic lipase deficiency, 614338 (3), Autosomal recessive	Pnlip (MGI:97722)
chr10	116590959	116609175	10q25.3	10q25.3	604422	PNLIPRP1, PLRP1	Pancreatic lipase-related protein 1	PNLIPRP1	5407	ENSG00000187021			Pnliprp1 (MGI:97723)
chr10	116620953	116645143	10q25.3	10q25.3	604423	PNLIPRP2, PLRP2	Pancreatic lipase-related protein 2	PNLIPRP2	5408	ENSG00000266200			Pnliprp2 (MGI:1336202)
chr10	116671192	116850747	10q26.12	10q25.3	610701	HSPA12A, KIAA0417	Heat-shock 70kD protein 12A	HSPA12A	259217	ENSG00000165868			Hspa12a (MGI:1920692)
chr10	116849499	116912375	10q25.3	10q25.3	131375	ENO4, ENOS	Enolase 4	ENO4	387712	ENSG00000188316			Eno4 (MGI:2441717)
chr10	116881477	117126586	10q25.3	10q25.3	611171	SHTN1, KIAA1598, SHOOTIN1	Shootin1	SHTN1	57698	ENSG00000187164			Shtn1 (MGI:1918903)
chr10	117128520	117138270	10q26.1	10q25.3	604294	VAX1, MCOPS11	Ventral anterior homeobox 1	VAX1	11023	ENSG00000148704	mutation identified in one MCOPS11 family	?Microphthalmia, syndromic 11, 614402 (3), Autosomal recessive	Vax1 (MGI:1277163)
chr10	117197489	117210299	10q25.3	10q25.3	613655	KCNK18, TRESK, TRIK, MGR13	Potassium channel, subfamily K, member 18	KCNK18	338567	ENSG00000186795		{Migraine, with or without aura, susceptibility to, 13}, 613656 (3), Autosomal dominant	Kcnk18 (MGI:2685627)
chr10	117241114	117279430	10q25	10q25.3	193001	SLC18A2, VAT2, SVMT, PKDYS2	Solute carrier family 18 (vesicular monoamine), member 2	SLC18A2	6571	ENSG00000165646		Parkinsonism-dystonia, infantile, 2, 618049 (3), Autosomal recessive	Slc18a2 (MGI:106677)
chr10	117277274	117375440	10q25.3-q26.11	10q25.3-q26.11	614235	PDZD8, IDDADF	PDZ domain-containing protein 8	PDZD8	118987	ENSG00000165650		Intellectual developmental disorder with autism and dysmorphic facies, 620021 (3), Autosomal recessive	Pdzd8 (MGI:2677270)
chr10	117300001	133797422	10q26		615163	CORD17	Cone-rod dystrophy 17		101409267		between D10S1757 and D10S1782	Cone-rod dystrophy 17, 615163 (2), Autosomal dominant	
chr10	117300001	133797422	10q26		609625	DEL10q26, C10q26DEL	Chromosome 10q26 deletion syndrome					Chromosome 10q26 deletion syndrome, 609625 (4), Autosomal dominant	
chr10	117300001	133797422	10q26		131200	ENDO1	Endometriosis, susceptibility to, 1		100188863		max lod at D10S587	{Endometriosis, susceptibility to, 1}, 131200 (2), Multifactorial, Autosomal recessive	
chr10	117300001	133797422	10q26		609116	RRIS	Respiratory rhythmicity in sleep		497662			[Respiratory rhythmicity in sleep], 609116 (2)	
chr10	117484293	117545068	10q26	10q26.11	607637	EMX2OS	EMX2 opposite strand/ antisense RNA	EMX2OS	196047	ENSG00000229847	non-coding RNA		Emx2os (MGI:3052329)
chr10	117542746	117549546	10q26.1	10q26.11	600035	EMX2	Empty spiracles homeobox 2	EMX2	2018	ENSG00000170370	close to VAX1	Schizencephaly, 269160 (3)	Emx2 (MGI:95388)
chr10	118004916	118046941	10q26	10q26.11	608599	RAB11FIP2, KIAA0941	RAB11 family-interacting protein 2	RAB11FIP2	22841	ENSG00000107560			Rab11fip2 (MGI:1922248)
chr10	118046821	118210153	10q26	10q26.11	608598	CASC2	Cancer susceptibility candidate 2	CASC2	255082	ENSG00000177640	head-to-head orientation with RAB11FIP2		
chr10	118589997	118595648	10q25.3-q26	10q26.11	600895	GPR10	G protein-coupled receptor-10	PRLHR	2834	ENSG00000119973			Prlhr (MGI:2135956)
chr10	118676411	118754970	10q26.11	10q26.11	618764	CACUL1, CAC1, C10orf46	CDK2-associated cullin domain-containing protein 1	CACUL1	143384	ENSG00000151893			Cacul1 (MGI:1926082)
chr10	119029714	119033730	10q26.11	10q26.11	608226	NANOS1, NOS1, SPGF12	NANOS C2HC-type zinc finger 1	NANOS1	340719	ENSG00000188613		Spermatogenic failure 12, 615413 (3), Autosomal dominant	Nanos1 (MGI:2669254)
chr10	119033670	119080817	10q26	10q26.11	602039	EIF3A, EIF3S10, P167	Eukaryotic translation initiation factor 3, subunit A	EIF3A	8661	ENSG00000107581			Eif3a (MGI:95301)
chr10	119140767	119165714	10q26.11	10q26.11	615564	SFXN4, COXPD18	Sideroflexin 4	SFXN4	119559	ENSG00000183605		Combined oxidative phosphorylation deficiency 18, 615578 (3), Autosomal recessive	Sfxn4 (MGI:2137680)
chr10	119167720	119178812	10q25-q26	10q26.11	604769	PRDX3, AOP1, SCAR32, PPPCD	Peroxiredoxin 3 (antioxidant protein 1)	PRDX3	10935	ENSG00000165672		Spinocerebellar ataxia, autosomal recessive 32, 619862 (3), Autosomal recessive; Corneal dystrophy, punctiform and polychromatic pre-Descemet, 619871 (3), Autosomal dominant	Prdx3 (MGI:88034)
chr10	119207571	119459745	10q24-qter	10q26.11	600870	GRK5, GPRK5	G protein-coupled receptor kinase 5	GRK5	2869	ENSG00000198873			Grk5 (MGI:109161)
chr10	119499817	119542719	10q26.11	10q26.11	602856	RGS10	Regulator of G protein signaling 10	RGS10	6001	ENSG00000148908			Rgs10 (MGI:1915115)
chr10	119573465	119596964	10q	10q26.11	603413	TIAL1, TIAR, TCBP	Tia1 cytotoxic granule-associated RNA-binding protein-like 1	TIAL1	7073	ENSG00000151923			Tial1 (MGI:107913)
chr10	119651380	119677819	10q25.2-q26.2	10q26.11	603883	BAG3, MFM6, CMD1HH, CMT2JJ, HMND15	BCL2-associated athanogene 3	BAG3	9531	ENSG00000151929	mutation identified in 1 HMND15 family	?Neuronopathy, distal hereditary motor, autosomal dominant 15, 621094 (3), Autosomal dominant; Cardiomyopathy, dilated, 1HH, 613881 (3), Autosomal dominant; Myopathy, myofibrillar, 6, 612954 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2JJ, 621095 (3), Autosomal dominant	Bag3 (MGI:1352493)
chr10	119726050	119829147	10q26.11	10q26.11	609389	INPP5F, SAC2, KIAA0966	Inositol polyphosphate 5-phosphatase F	INPP5F	22876	ENSG00000198825			Inpp5f (MGI:2141867)
chr10	119829440	119873581	10q26.11	10q26.11	610909	MCMBP, C10orf119	Minichromosome maintenance complex-binding protein	MCMBP	79892	ENSG00000197771			Mcmbp (MGI:1920977)
chr10	119892730	119944657	10q26.11-q26.12	10q26.11-q26.12	617852	SEC23IP	SEC23-interacting protein	SEC23IP	11196	ENSG00000107651			Sec23ip (MGI:2450915)
chr10	120851362	120909524	10q26	10q26.12	606417	WDR11, DR11, KIAA1351, BRWD2, HH14	WD repeat-containing protein 11	WDR11	55717	ENSG00000120008		Intellectual developmental disorder, autosomal recessive 78, 620237 (3), Autosomal recessive; Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3), Autosomal dominant	Wdr11 (MGI:1920230)
chr10	121478330	121598458	10q26	10q26.13	176943	FGFR2, BEK, CFD1, JWS, TK14, BBDS	Fibroblast growth factor receptor-2 (bacteria-expressed kinase)	FGFR2	2263	ENSG00000066468		Bent bone dysplasia syndrome, 614592 (3), Autosomal dominant; LADD syndrome 1, 149730 (3), Autosomal dominant; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3), Autosomal dominant; Scaphocephaly and Axenfeld-Rieger anomaly (3); Jackson-Weiss syndrome, 123150 (3), Autosomal dominant; Gastric cancer, somatic, 613659 (3); Craniofacial-skeletal-dermatologic dysplasia, 101600 (3), Autosomal dominant; Apert syndrome, 101200 (3), Autosomal dominant; Pfeiffer syndrome, 101600 (3), Autosomal dominant; Craniosynostosis, nonspecific (3); ?Scaphocephaly, maxillary retrusion, and impaired intellectual development, 609579 (3); Beare-Stevenson cutis gyrata syndrome, 123790 (3), Autosomal dominant; Crouzon syndrome, 123500 (3), Autosomal dominant; Saethre-Chotzen syndrome, 101400 (3), Autosomal dominant	Fgfr2 (MGI:95523)
chr10	121740424	121928463	10q26.13	10q26.13	607103	ATE1	Arginyltransferase 1	ATE1	11101	ENSG00000107669			Ate1 (MGI:1333870)
chr10	121957091	121975217	10q26.13	10q26.13	612987	NSMCE4A, NSE4A	NSE4 homolog A, SMC5-SMC6 complex component	NSMCE4A	54780	ENSG00000107672			Nsmce4a (MGI:1915122)
chr10	121989163	122254542	10q26	10q26.13	605302	TACC2	Transforming, acidic, coiled-coil-containing protein 2	TACC2	10579	ENSG00000138162			Tacc2 (MGI:1928899)
chr10	122374708	122442600	10q25.3-q26.2	10q26.13	607772	PLEKHA1, TAPP1	Pleckstrin homology domain-containing protein, family A, member 1	PLEKHA1	59338	ENSG00000107679			Plekha1 (MGI:2442213)
chr10	122454653	122457352	10q26.13	10q26.13	611313	LOC387715, ARMD8	LOC387715 gene	ARMS2	387715	ENSG00000254636		{Macular degeneration, age-related, 8}, 613778 (3)	
chr10	122461553	122514907	10q25.3-q26.2	10q26.13	602194	HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2	HTRA serine peptidase 1	HTRA1	5654	ENSG00000166033		{Macular degeneration, age-related, neovascular type}, 610149 (3); {Macular degeneration, age-related, 7}, 610149 (3); CARASIL syndrome, 600142 (3), Autosomal recessive; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3), Autosomal dominant	Htra1 (MGI:1929076)
chr10	122560754	122643736	10q25.3-q26.1	10q26.13	601969	DMBT1	Deleted in malignant brain tumors 1	DMBT1	1755	ENSG00000187908			Dmbt1 (MGI:106210)
chr10	122832158	122845857	10q26.13	10q26.13	616644	CUZD1, ERG1, ITMAP1	Cub and zona pellucida-like domains 1	CUZD1	50624	ENSG00000138161			Cuzd1 (MGI:1202881)
chr10	122930901	122954227	10q26.13	10q26.13	620661	C10orf88, PAAT	Chromosome 10 open reading frame 88	C10orf88	80007	ENSG00000119965			2310057M21Rik (MGI:1915527)
chr10	122980401	122990390	10q26.13	10q26.13	611310	PSTK, C10orf89	Phosphoseryl-tRNA kinase	PSTK	118672	ENSG00000179988			Pstk (MGI:2685945)
chr10	122990806	123008795	10q26.13	10q26.13	606238	IKZF5, ZNFN1A5, PEGASUS, THC7	Ikaros family zinc finger 5	IKZF5	64376	ENSG00000095574		Thrombocytopenia, autosomal dominant, 7, 619130 (3), Autosomal dominant	Ikzf5 (MGI:1914393)
chr10	123009006	123058290	10q25-q26	10q26.13	600301	ACADSB, SBCAD	Acyl-Coenzyme A dehydrogenase, short/branched chain	ACADSB	36	ENSG00000196177		2-methylbutyrylglycinuria, 610006 (3), Autosomal recessive	Acadsb (MGI:1914135)
chr10	123135970	123139423	10q26.13	10q26.13	613380	HMX3, NKX5.1	H6 family homeobox 3	HMX3	340784	ENSG00000188620			Hmx3 (MGI:107160)
chr10	123148136	123150672	10q25.2-q26.3	10q26.13	600647	HMX2	Homeobox (H6 family) 2	HMX2	3167	ENSG00000188816			Hmx2 (MGI:107159)
chr10	123154402	123170467	10q24-q26	10q26.13	603719	BUB3	BUB3 mitotic checkpoint protein	BUB3	9184	ENSG00000154473			Bub3 (MGI:1343463)
chr10	123666355	123697399	10q26.2-q26.3	10q26.13	604847	GPR26	G protein-coupled receptor 26	GPR26	2849	ENSG00000154478			Gpr26 (MGI:2441758)
chr10	123745639	123944104	10q26.13	10q26.13	617348	CPXM2, CPX2	Carboxypeptidase X, M14 family, member 2	CPXM2	119587	ENSG00000121898			Cpxm2 (MGI:1926006)
chr10	124007668	124093598	10q26	10q26.13	608277	CHST15, BRAG, KIAA0598	Carbohydrate sulfotransferase 15	CHST15	51363	ENSG00000182022			Chst15 (MGI:1924840)
chr10	124397303	124418923	10q26	10q26.13	613349	OAT, GACR	Ornithine aminotransferase	OAT	4942	ENSG00000065154	pseudogene at Xp11.2	Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3), Autosomal recessive	Oat (MGI:97394)
chr10	124445243	124450035	10q26.13	10q26.13	621058	NKX1-2, SAX1	NK1 homeobox 2	NKX1-2	390010	ENSG00000229544			Nkx1-2 (MGI:104806)
chr10	124461823	124614141	10q26.13	10q26.13	617231	LHPP	Phospholysine phosphohistidine inorganic pyrophosphate phosphatase	LHPP	64077	ENSG00000107902			Lhpp (MGI:1923679)
chr10	124619292	124744378	10q26.13	10q26.13	617289	FAM53B, KIAA0140	Family with sequence similarity 53, member B	FAM53B	9679	ENSG00000189319			Fam53b (MGI:1925188)
chr10	124756253	124791887	10q26.13	10q26.13	617794	EEF1AKMT2, METTL10	EEF1A lysine methyltransferase 2	EEF1AKMT2	399818	ENSG00000203791			Eef1akmt2 (MGI:1919346)
chr10	124801819	124836667	10q26.13	10q26.13	611144	ABRAXAS2, FAM175B, ABRO1, KIAA0157	Abraxas 2, BRISC complex subunit	ABRAXAS2	23172	ENSG00000165660			Abraxas2 (MGI:1926116)
chr10	124916894	124988189	10q26.13	10q26.13	611749	ZRANB1, TRABID	Zinc finger- and RAN-binding domain-containing protein 1	ZRANB1	54764	ENSG00000019995			Zranb1 (MGI:106441)
chr10	124984317	125162463	10q26.13	10q26.13	602619	CTBP2	C-terminal-binding protein 2	CTBP2	1488	ENSG00000175029			Ctbp2 (MGI:1201686)
chr10	125719709	125764139	10q26.2	10q26.2	620463	EDRF1, C10orf137	Erythroid differentiation regulatory factor 1	EDRF1	26098	ENSG00000107938			Edrf1 (MGI:1919831)
chr10	125766453	125775821	10q26.13	10q26.2	608416	MMP21, HTX7	Matrix metalloproteinase 21	MMP21	118856	ENSG00000154485		Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive	Mmp21 (MGI:2664387)
chr10	125784980	125823258	10q25.2-q26.3	10q26.2	606938	UROS	Uroporphyrinogen III synthase	UROS	7390	ENSG00000188690		Porphyria, congenital erythropoietic, 263700 (3), Autosomal recessive	Uros (MGI:98917)
chr10	125823546	125853695	10q25.3-q26.2	10q26.2	611883	BCCIP, TOK1	BRCA2- and CDKN1A-interacting protein	BCCIP	56647	ENSG00000107949			Bccip (MGI:1913415)
chr10	125836337	125896485	10q26	10q26.2	607960	DHX32, DDX32	DEAH-box helicase 32 (putative)	DHX32	55760	ENSG00000089876			Dhx32 (MGI:2141813)
chr10	125896564	126009592	10q26.2	10q26.2	611640	FANK1	Fibronectin type III and ankyrin repeat domains 1	FANK1	92565	ENSG00000203780			Fank1 (MGI:1914180)
chr10	126012391	126388477	10q26.3	10q26.2	602714	ADAM12, MLTN	ADAM metallopeptidase domain 12	ADAM12	8038	ENSG00000148848			Adam12 (MGI:105378)
chr10	126424997	126670693	10q26.2	10q26.2	617735	C10orf90, FATS	Chromosome 10 open reading frame 90	C10orf90	118611	ENSG00000154493			D7Ertd443e (MGI:1196431)
chr10	126905428	127452516	10q26.13-q26.3	10q26.2	601403	DOCK1, DOCK180	Dedicator of cytokinesis-1	DOCK1	1793	ENSG00000150760			Dock1 (MGI:2429765)
chr10	127135430	127196591	10q26.2	10q26.2	617129	FAM196A, C10orf141, INSYN2	Family with sequence similarity 196, member A	INSYN2A	642938	ENSG00000188916			Insyn2a (MGI:3605068)
chr10	127549309	127553540	10q26.2	10q26.2	609513	NPS	Neuropeptide S	NPS	594857	ENSG00000214285			Nps (MGI:3642232)
chr10	127737185	127741183	10q26.2	10q26.2	617202	FOXI2	Forkhead box I2	FOXI2	399823	ENSG00000186766			Foxi2 (MGI:3028075)
chr10	127877841	127892941	10q26.2	10q26.2	620256	CLRN3, TMEM12	Clarin 3	CLRN3	119467	ENSG00000180745			Clrn3 (MGI:2142022)
chr10	127907103	128085855	10q26	10q26.2	600926	PTPRE	Protein tyrosine phosphatase, receptor type, epsilon	PTPRE	5791	ENSG00000132334			Ptpre (MGI:97813)
chr10	128096659	128126423	10q25-qter	10q26.2	176741	MKI67	Proliferation-related Ki-67 antigen	MKI67	4288	ENSG00000148773			Mki67 (MGI:106035)
chr10	129467241	129770983	10q26	10q26.3	156569	MGMT	Methylguanine-DNA methyltransferase	MGMT	4255	ENSG00000170430			Mgmt (MGI:96977)
chr10	129835233	129964274	10q26.3	10q26.3	607407	EBF3, COE3, HADDS	Early B-cell factor 3	EBF3	253738	ENSG00000108001		Hypotonia, ataxia, and delayed development syndrome, 617330 (3), Autosomal dominant	Ebf3 (MGI:894289)
chr10	130136391	130180377	10q26.3	10q26.3	612754	GLRX3, PICOT	Glutaredoxin 3	GLRX3	10539	ENSG00000108010			Glrx3 (MGI:1353653)
chr10	131092391	131311721	10q26.3	10q26.3	620498	TCERG1L	Transcription elongation regulator 1-like	TCERG1L	256536	ENSG00000176769			Tcerg1l (MGI:1917821)
chr10	131901008	131971533	10q26.3	10q26.3	613992	PPP2R2D	Protein phosphatase 2, regulatory subunit B, delta	PPP2R2D	55844	ENSG00000175470			Ppp2r2d (MGI:1289252)
chr10	131967684	131981923	10q26.3	10q26.3	603293	BNIP3, NIP3	BCL2/adenovirus E1B 19-kD protein-interacting protein 3	BNIP3	664	ENSG00000176171			Bnip3 (MGI:109326)
chr10	132036364	132184858	10q26.1	10q26.3	611198	JAKMIP3, C10orf39, NECC2, JAMIP3	Janus kinase and microtubule interacting protein 3	JAKMIP3	282973	ENSG00000188385			Jakmip3 (MGI:1921254)
chr10	132186948	132205759	10q25.2-q26	10q26.3	608407	DPYSL4, CRMP3, ULIP4	Dihydropyrimidinase-like 4	DPYSL4	10570	ENSG00000151640			Dpysl4 (MGI:1349764)
chr10	132537787	132783480	10q26.3	10q26.3	600106	INPP5A	Inositol polyphosphate-5-phosphatase, 40kD	INPP5A	3632	ENSG00000068383			Inpp5a (MGI:2686961)
chr10	132783181	132786147	10q26	10q26.3	605955	NKX6-2, NKX6B, NKX6.2, SPAX8	NK6 transcription factor related, locus 2 (Drosophila)	NKX6-2	84504	ENSG00000148826		Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3), Autosomal recessive	Nkx6-2 (MGI:1352738)
chr10	132808392	132942570	10q26.3	10q26.3	618543	CFAP46, TTC40	Cilia- and flagella-associated protein 46	CFAP46	54777	ENSG00000171811			Cfap46 (MGI:2444387)
chr10	133087924	133131675	10q26.3	10q26.3	612302	ADGRA1, GPR123, KIAA1828	Adhesion G protein-coupled receptor A1	ADGRA1	84435	ENSG00000197177			Adgra1 (MGI:1277167)
chr10	133160219	133226412	10q26.3	10q26.3	616237	KNDC1, RASGEF2, KIAA1768	Kinase noncatalytic C-lobe domain-containing protein 1	KNDC1	85442	ENSG00000171798			Kndc1 (MGI:1923734)
chr10	133230217	133231558	10q26	10q26.3	604130	UTF1	Undifferentiated embryonic cell transcription factor 1	UTF1	8433	ENSG00000171794			Utf1 (MGI:1276125)
chr10	133237855	133241928	10q26.3	10q26.3	607158	VENTX, VENTX2, HPX42B	VENT homeobox	VENTX	27287	ENSG00000151650			
chr10	133262423	133276868	10q26.3	10q26.3	602267	ADAM8, CD156	ADAM metallopeptidase domain 8	ADAM8	101	ENSG00000151651			Adam8 (MGI:107825)
chr10	133278635	133312337	10q26.3	10q26.3	617817	TUBGCP2, GCP2, GRIP103, SPC97, ALP4, PAMDDFS	Tubulin-gamma complex-associated protein 2	TUBGCP2	10844	ENSG00000130640		Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 (3), Autosomal recessive	Tubgcp2 (MGI:1921487)
chr10	133324072	133336896	10q26.3	10q26.3	604647	CALY, DRD1IP	Calcyon neuron-specific vesicular protein	CALY	50632	ENSG00000130643			Caly (MGI:1915816)
chr10	133347373	133352683	10q26.3	10q26.3	609776	PRAP1	Proline-rich acidic protein 1	PRAP1	118471	ENSG00000165828			Prap1 (MGI:893573)
chr10	133352773	133358019	10q26.3	10q26.3	617725	FUOM, FUCU	Fucose mutarotase	FUOM	282969	ENSG00000148803			Fuom (MGI:1916314)
chr10	133362485	133373354	10q26.2-q26.3	10q26.3	602292	ECHS1, SCEH, ECHS1D	Enoyl-CoA hydratase, short-chain, 1, mitochondrial	ECHS1	1892	ENSG00000127884		Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3), Autosomal recessive	Echs1 (MGI:2136460)
chr10	133379262	133391694	10q26.3	10q26.3	615853	PAOX, PAO	Polyamine oxidase	PAOX	196743	ENSG00000148832			Paox (MGI:1916983)
chr10	133420666	133424625	10q26.3	10q26.3	610447	SPRN, SHADOO, SHO	Shadow of prion protein	SPRN	503542	ENSG00000203772			Sprn (MGI:3582583)
chr10	133527363	133539123	10q24.3-qter	10q26.3	124040	CYP2E, CYP2E1, P450C2E	Cytochrome P450, subfamily IIE, ethanol-inducible	CYP2E1	1571	ENSG00000130649			Cyp2e1 (MGI:88607)
chr10	133553899	133568291	10q26.3	10q26.3	611486	SYCE1, POF12, SPGF15	Synaptonemal complex central element protein 1	SYCE1	93426	ENSG00000171772	mutation identified in 1 POF12 and 1 SPGF15 family	?Spermatogenic failure 15, 616950 (3), Autosomal recessive; ?Premature ovarian failure 12, 616947 (3), Autosomal recessive	Syce1 (MGI:1921325)
chr11	1	31000000	11p15-p14		606528	DEL11p15p14, C11DELp15p14	Chromosome 11p15-p14 deletion syndrome (homozygous)				contiguous gene deletion syndrome	Chromosome 11p15-p14 deletion syndrome, 606528 (4), Autosomal recessive	
chr11	1	22000000	11p15		611010	GINGF4, HGF4, GGF4	Fibromatosis, gingival, 4		100124414		between D11S1984 and D11S1338	Fibromatosis, gingival, 4, 611010 (2)	
chr11	1	53400001	11p		604499	HYPLIP2	Hyperlipidemia, combined, 2		28515			Hyperlipidemia, combined, 2, 604499 (2)	
chr11	1	22000000	11p15		235000	IH, HHP	Hemihyperplasia, isolated		100188864		epigenetic or uniparental disomy	Hemihypertrophy, 235000 (2), Autosomal dominant	
chr11	1	2800000	11p15.5		147510	IRDN, ILPR	Insulin-related DNA polymorphism (insulin-related VNTR)						
chr11	1	22000000	11p15		609470	LVNC2	Left ventricular noncompaction 2		619411		max lod at D11S902	Left ventricular noncompaction 2, 609470 (2)	
chr11	1	22000000	11p15		616792	NBLST7	Neuroblastoma, susceptibility to, 7		107181289		associated with rs2168101	{Neuroblastoma, susceptibility to, 7}, 616792 (2)	
chr11	1	53400001	11p		600165	NNO1	Nanophthalmos 1		23691			Nanophthalmos-1, 600165 (2), Autosomal dominant	
chr11	1	2800000	11p15.5		607967	SLEN3	Systemic lupus erythematosus with nephritis, susceptibility to, 3		282849			{Systemic lupus erythematosus with nephritis, susceptibility to, 3}, 607967 (2)	
chr11	188050	194575	11p15.5	11p15.5	610176	SCGB1C1, RYD5	Secretoglobin, family 1C, member 1	SCGB1C1	147199	ENSG00000188076			Scgb1c1 (MGI:2655401)
chr11	196761	200258	11p15.5	11p15.5	608356	ODF3, SHIPPO1	Outer dense fiber of sperm tails 3	CIMAP1A	113746	ENSG00000177947			Cimap1a (MGI:1916537)
chr11	202924	207399	11p15.5	11p15.5	615417	BET1L, GS15	BET1-like protein	BET1L	51272	ENSG00000177951			Bet1l (MGI:1913128)
chr11	207708	215113	11p15.5	11p15.5	609146	RIC8A	RIC8 guanine nucleotide exchange factor A	RIC8A	60626	ENSG00000177963			Ric8a (MGI:2141866)
chr11	215030	236931	11p15.5	11p15.5	604481	SIRT3, SIR2L3	Sirtuin 3	SIRT3	23410	ENSG00000142082			Sirt3 (MGI:1927665)
chr11	236976	252984	11p15.5	11p15.5	603481	PSMD13, S11	Proteasome 26S subunit, non-ATPase, 13	PSMD13	5719	ENSG00000185627			Psmd13 (MGI:1345192)
chr11	278407	285388	11p15.5	11p15.5	609650	NLRP6, NALP6, PYPAF5	NLR family pyrin-domain containing 6	NLRP6	171389	ENSG00000174885			Nlrp6 (MGI:2141990)
chr11	289126	296107	11p15.5	11p15.5	617032	PGGHG, ATHL1	Protein-glucosylgalactosylhydroxylysine glucosidase	PGGHG	80162	ENSG00000142102			Pgghg (MGI:2444047)
chr11	298200	299526	11p15.5	11p15.5	614757	IFITM5, OI5	Interferon-induced transmembrane protein 5	IFITM5	387733	ENSG00000206013		Osteogenesis imperfecta, type V, 610967 (3), Autosomal dominant	Ifitm5 (MGI:1934923)
chr11	307816	309395	11p15.5	11p15.5	605578	IFITM2	Interferon-induced transmembrane protein 1	IFITM2	10581	ENSG00000185201			Ifitm2 (MGI:1933382)
chr11	314040	315272	11p15.5	11p15.5	604456	IFITM1, IFI17, LEU13	Interferon-induced transmembrane protein 1	IFITM1	8519	ENSG00000185885			Ifitm1 (MGI:1915963)
chr11	319676	320860	11p15.5	11p15.5	605579	IFITM3	Interferon-induced transmembrane protein 3	IFITM3	10410	ENSG00000142089		{Influenza, severe, susceptibility to}, 614680 (3)	Ifitm2,Ifitm3,Ifitm7 (MGI:1913391,MGI:1921732,MGI:1933382)
chr11	369499	382117	11p15	11p15.5	618560	B4GALNT4	Beta-1,4-N-acetyl-galactosaminyltransferase 4	B4GALNT4	338707	ENSG00000182272			B4galnt4 (MGI:2652891)
chr11	392596	404908	11p15	11p15.5	605561	PKP3	Plakophilin-3	PKP3	11187	ENSG00000184363			Pkp3 (MGI:1891830)
chr11	405716	417397	11p15.5	11p15.5	605478	SIGIRR	Single immunoglobulin domain-containing IL1R-related protein	SIGIRR	59307	ENSG00000185187			Sigirr (MGI:1344402)
chr11	417938	442011	11p15.5	11p15.5	619963	ANO9, TMEM16J, TP53I5	Anoctamin 9	ANO9	338440	ENSG00000185101			Ano9 (MGI:1918595)
chr11	448268	491399	11p15.5	11p15.5	612793	PTDSS2, PSS2	Phosphatidylserine synthase 2	PTDSS2	81490	ENSG00000174915			Ptdss2 (MGI:1351664)
chr11	494515	507242	11p15.5	11p15.5	173320	RNH1, RNH, IIAE12	Ribonuclease/angiogenin inhibitor 1	RNH1	6050	ENSG00000023191		{Encephalopathy, acute, infection-induced, susceptibility to, 12}, 620461 (3), Autosomal recessive	Rnh1 (MGI:1195456)
chr11	506462	554912	11p15.5	11p15.5	618227	LRRC56, CILD39	Leucine-rich repeat-containing protein 56	LRRC56	115399	ENSG00000161328		Ciliary dyskinesia, primary, 39, 618254 (3), Autosomal recessive	Lrrc56 (MGI:1917802)
chr11	532242	535576	11p15.5	11p15.5	190020	HRAS	Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog	HRAS	3265	ENSG00000174775	pseudogene HRASP on X	Bladder cancer, somatic, 109800 (3); Thyroid carcinoma, follicular, somatic, 188470 (3); Congenital myopathy with excess of muscle spindles, 218040 (3), Autosomal dominant; Nevus sebaceous or woolly hair nevus, somatic, 162900 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Spitz nevus or nevus spilus, somatic, 137550 (3); Costello syndrome, 218040 (3), Autosomal dominant	Hras (MGI:96224)
chr11	560970	564025	11p15.5	11p15.5	143023	RASSF7, C11orf13, HRC1	Ras association domain family, member 7	RASSF7	8045	ENSG00000099849	29kb 5' to HRAS1; divergently transcribed		Rassf7 (MGI:1914235)
chr11	568089	568198	11p15.5	11p15.5	612982	MIR210, MIRN210	Micro RNA 210	MIR210	406992	ENSG00000199038			Mir210 (MGI:2676886)
chr11	576470	612222	11p15.5	11p15.5	611780	PHRF1, KIAA1542	PHD and RING finger domain-containing protein 1	PHRF1	57661	ENSG00000070047			Phrf1 (MGI:2141847)
chr11	612555	615950	11p15.5	11p15.5	605047	IRF7, IRF7A, IRF7B, IRF7C, IRF7H, IMD39	Interferon regulatory factor 7	IRF7	3665	ENSG00000185507	mutation identified in 1 family	?Immunodeficiency 39, 616345 (3), Autosomal recessive	Irf7 (MGI:1859212)
chr11	616583	624955	11p15.5	11p15.5	606839	CDHR5, MUCDHL	Cadherin-related family, member 5	CDHR5	53841	ENSG00000099834			Cdhr5 (MGI:1919290)
chr11	626309	627181	11p15.5	11p15.5	182099	SCT	Secretin	SCT	6343	ENSG00000070031			Sct (MGI:99466)
chr11	637269	640706	11p15.5	11p15.5	126452	DRD4	Dopamine receptor D4	DRD4	1815	ENSG00000069696	proximal to HRAS	{Attention deficit-hyperactivity disorder}, 143465 (3), Autosomal dominant; Autonomic nervous system dysfunction (3)	Drd4 (MGI:94926)
chr11	644220	707083	11p15.5	11p15.5	602635	DEAF1, SPN, ZMYND5, VSVS, NEDHELS	DEAF1 transcription factor	DEAF1	10522	ENSG00000177030		Vulto-van Silfout-de Vries syndrome, 615828 (3), Autosomal dominant; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, 617171 (3), Autosomal recessive	Deaf1 (MGI:1858496)
chr11	695639	705028	11p15.5	11p15.5	620248	TMEM80	Transmembrane protein 80	TMEM80	283232	ENSG00000177042			Tmem80 (MGI:1918698)
chr11	706231	727727	11p15	11p15.5	614988	EPS8L2, EPS8R2, DFNB106	EPS8-like protein 2	EPS8L2	64787	ENSG00000177106		Deafness autosomal recessive 106, 617637 (3), Autosomal recessive	Eps8l2 (MGI:2138828)
chr11	747464	765012	11p15.5-p15.4	11p15.5	602063	TALDO1	Transaldolase-1	TALDO1	6888	ENSG00000177156	pseudogene on chr.1	Transaldolase deficiency, 606003 (3), Autosomal recessive	Taldo1 (MGI:1274789)
chr11	787115	790090	11p15.5	11p15.5	608213	CEND1, BM88	Cell cycle exit and neuronal differentiation 1	CEND1	51286	ENSG00000184524			Cend1 (MGI:1929898)
chr11	790475	798281	11p15.5	11p15.5	609302	SLC25A22, GC1, DEE3	Solute carrier family 25 (mitochondrial carrier, glutamate), member 22	SLC25A22	79751	ENSG00000177542		Developmental and epileptic encephalopathy 3, 609304 (3), Autosomal recessive	Slc25a22 (MGI:1915517)
chr11	797626	799192	11p15.5	11p15.5	620541	PANO1	Proapoptotic nucleolar protein 1	PANO1	101927423	ENSG00000288675			
chr11	799184	809501	11p15.5	11p15.5	605247	PIDD1, LRDD, MRT75	p53-induced death domain protein 1	PIDD1	55367	ENSG00000177595		Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, 619827 (3), Autosomal recessive	Pidd1 (MGI:1889507)
chr11	809967	812876	11p15.5	11p15.5	180530	RPLP2	Ribosomal protein lateral stalk subunit P2	RPLP2	6181	ENSG00000177600			Rplp2,Rplp2-ps1 (MGI:1914436,MGI:3826366)
chr11	818914	825573	11p15.5	11p15.5	609059	PNPLA2, TTS2, ATGL	Patatin-like phospholipase domain-containing protein 2	PNPLA2	57104	ENSG00000177666		Neutral lipid storage disease with myopathy, 610717 (3), Autosomal recessive	Pnpla2 (MGI:1914103)
chr11	826157	831991	11p15.5	11p15.5	614177	EFCAB4A, CRACR2B	EF-hand calcium-binding domain-containing protein 4A	CRACR2B	283229	ENSG00000177685			Cracr2b (MGI:2446129)
chr11	832952	838831	11p15.5	11p15.5	602243	CD151, PETA3, SFA1, MER2, EBS7	CD151 antigen	CD151	977	ENSG00000177697		[Blood group, Raph], 179620 (3); Epidermolysis bullosa simplex 7, with nephropathy and deafness, 609057 (3), Autosomal recessive	Cd151 (MGI:1096360)
chr11	839721	842529	11p15	11p15.5	601189	POLR2L, RPB10	Polymerase II, RNA, subunit L	POLR2L	5441	ENSG00000177700			Polr2l (MGI:1913741)
chr11	842852	867111	11p15.5	11p15.5	602644	TSPAN4, TM4SF7, NAG2	Tetraspanin 4	TSPAN4	7106	ENSG00000214063			Tspan4 (MGI:1928097)
chr11	867859	915214	11p15.5	11p15.5	615692	CHID1, SICLP	Chitinase domain-containing protein 1	CHID1	66005	ENSG00000177830			Chid1 (MGI:1915288)
chr11	925870	1012240	11p15.5	11p15.5	607242	AP2A2, KIAA0899	Adaptor-related protein complex 2, alpha-2 subunit	AP2A2	161	ENSG00000183020			Ap2a2 (MGI:101920)
chr11	1012823	1036718	11p15.5-p15.4	11p15.5	158374	MUC6	Mucin 6, gastric	MUC6	4588	ENSG00000184956	order: tel-HRAS-MUC6-MUC2-MUC5AC-MUC5B-IGF2-cen		Muc6 (MGI:2663233)
chr11	1074874	1110508	11p15.5	11p15.5	158370	MUC2	Mucin 2, intestinal/tracheal	MUC2	4583	ENSG00000198788			Muc2 (MGI:1339364)
chr11	1157953	1201138	11p15.5	11p15.5	158373	MUC5AC, MUC5	Mucin 5, subtypes A and C, tracheobronchial/gastric	MUC5AC	4586	ENSG00000215182			Muc5ac (MGI:104697)
chr11	1223066	1262172	11p15	11p15.5	600770	MUC5B	Mucin 5, subtype B, tracheobronchial	MUC5B	727897	ENSG00000117983		{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3), Autosomal dominant	Muc5b (MGI:1921430)
chr11	1274371	1309632	11p15.5	11p15.5	606277	TOLLIP	Toll-interacting protein	TOLLIP	54472	ENSG00000078902			Tollip (MGI:1891808)
chr11	1389934	1462689	11p15.5	11p15.5	609236	BRSK2, SAD1, PEN11B	BR serine/threonine kinase 2	BRSK2	9024	ENSG00000174672			Brsk2 (MGI:1923020)
chr11	1469448	1486779	11p15.5	11p15.5	611969	MOB2, HCCA2	MOB kinase activator 2	MOB2	81532	ENSG00000182208			Mob2 (MGI:1919891)
chr11	1554051	1572848	11p15.5	11p15.5	602038	DUSP8, HVH8	Dual specificity phosphatase-8	DUSP8	1850	ENSG00000184545	pseudogene on 10q11.2		Dusp8 (MGI:106626)
chr11	1584342	1585283	11p15.5	11p15.5	148022	KRTAP5-1, KRN1L	Keratin associated protein 5-1	KRTAP5-1	387264	ENSG00000205869			
chr11	1732406	1750595	11p15.5	11p15.5	618293	IFITM10, DSPA3	Interferon-induced transmembrane protein 10	IFITM10	402778	ENSG00000244242			Ifitm10 (MGI:2444776)
chr11	1752755	1763927	11p15.5	11p15.5	116840	CTSD, CPSD, CLN10	Cathepsin D (lysosomal aspartyl protease)	CTSD	1509	ENSG00000117984		Ceroid lipofuscinosis, neuronal, 10, 610127 (3), Autosomal recessive	Ctsd (MGI:88562)
chr11	1831784	1837521	11p15.5	11p15.5	607719	SYT8	Synaptotagmin 8	SYT8	90019	ENSG00000149043			Syt8 (MGI:1859867)
chr11	1838981	1841678	11p15.5	11p15.5	191043	TNNI2, AMCD2B, DA2B1, FSSV	Troponin I, fast-twitch skeletal muscle isoform	TNNI2	7136	ENSG00000130598		Arthrogryposis, distal, type 2B1, 601680 (3), Autosomal dominant	Tnni2 (MGI:105070)
chr11	1853084	1892263	11p15.5	11p15.5	153432	LSP1	Lymphocyte-specific protein pp52	LSP1	4046	ENSG00000130592			Lsp1 (MGI:96832)
chr11	1919552	1938702	11p15.5	11p15.5	600692	TNNT3, AMCD2B, DA2B2, FSSV	Troponin-T3, skeletal, fast	TNNT3	7140	ENSG00000130595		Arthrogryposis, distal, type 2B2, 618435 (3), Autosomal dominant	Tnnt3 (MGI:109550)
chr11	1947332	2014944	11p15.5	11p15.5	600789	RPL23L, L23MRP, MRPL23	Ribosomal protein L23-like (L23 mitochondrial-related protein)	MRPL23	6150	ENSG00000214026			Mrpl23 (MGI:1196612)
chr11	1995176	2001266	11p15.5	11p15.5	103280	H19, D11S813E, ASM1	H19 gene	H19	283120	ENSG00000130600	same 200kb fragment as IGF2		
chr11	1996759	1996831	11p15.5	11p15.5	615509	MIR675	Micro RNA 675	MIR675	100033819	ENSG00000284010			Mir675 (MGI:3629709)
chr11	1998202	2003509	11p15.5	11p15.5	616186	ICR1, BWS, WT2, SRS1	H19-IGF2-imprinting control region		105259599			Wilms tumor 2, 194071 (3), Somatic mutation, Autosomal dominant; Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant; Silver-Russell syndrome 1, 180860 (3), Autosomal dominant	
chr11	2129117	2149566	11p15.5	11p15.5	147470	IGF2, GRDF, SRS3	Insulin-like growth factor-2, or somatomedin A	IGF2	3481	ENSG00000167244	mutation identified in 1 GRDF family	Silver-Russell syndrome 3, 616489 (3), Autosomal dominant	Igf2 (MGI:96434)
chr11	2140512	2148666	11p15.5	11p15.5	610146	IGF2AS, PEG8	Insulin-like growth factor II, antisense	IGF2-AS	51214	ENSG00000099869			Igf2os (MGI:1195257)
chr11	2159779	2161209	11p15.5	11p15.5	176730	INS, MODY10, IDDM2, PNDM4	Insulin	INS	3630	ENSG00000254647	5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH	Diabetes mellitus, insulin-dependent, 2, 125852 (3), Autosomal dominant; Maturity-onset diabetes of the young, type 10, 613370 (3), Autosomal dominant; Hyperproinsulinemia, 616214 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 4, 618858 (3), Autosomal recessive, Autosomal dominant	Ins1,Ins2 (MGI:96572,MGI:96573)
chr11	2163929	2171815	11p15.5	11p15.5	191290	TH, TYH	Tyrosine hydroxylase	TH	7054	ENSG00000180176	distal to HRAS1	Segawa syndrome, recessive, 605407 (3), Autosomal recessive	Th (MGI:98735)
chr11	2268498	2270588	11p15.5	11p15.5	601886	ASCL2	Achaete-scute complex, Drosophila, homolog-like 2	ASCL2	430	ENSG00000183734			Ascl2 (MGI:96920)
chr11	2295628	2303140	11p15.5	11p15.5	611033	C11orf21	Chromosome 11 open reading frame 21	C11orf21	29125	ENSG00000110665			
chr11	2302013	2318204	11p15.5	11p15.5	603853	TSPAN32, PHEMX, TSSC6	Tetraspanin 32	TSPAN32	10077	ENSG00000064201	not imprinted		Tspan32 (MGI:1350360)
chr11	2376180	2397397	11p	11p15.5	186845	CD81, TAPA1, CVID6	CD81 antigen (target of antiproliferative antibody-1)	CD81	975	ENSG00000110651		Immunodeficiency, common variable, 6, 613496 (3), Autosomal recessive	Cd81 (MGI:1096398)
chr11	2400750	2403876	11p15.5	11p15.5	603852	TSSC4	Tumor-suppressing subchromosomal transferable fragment cDNA 4	TSSC4	10078	ENSG00000184281	not imprinted		Tssc4 (MGI:1861712)
chr11	2403991	2444514	11p15.5	11p15.5	604600	TRPM5, MTR1	Transient receptor potential cation channel, subfamily M, member 5 (MLSN1- and TRP-related gene 1)	TRPM5	29850	ENSG00000070985	maternal allele imprinted		Trpm5 (MGI:1861718)
chr11	2445008	2849105	11p15.5	11p15.5-p15.4	607542	KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2	Potassium voltage-gated channel, KQT-like subfamily, member 1	KCNQ1	3784	ENSG00000053918		Short QT syndrome 2, 609621 (3), Autosomal dominant; Atrial fibrillation, familial, 3, 607554 (3), Autosomal dominant; Long QT syndrome 1, 192500 (3), Autosomal dominant; {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome, 220400 (3), Autosomal recessive	Kcnq1 (MGI:108083)
chr11	2608328	2699994	11p15.5	11p15.5	604115	KCNQ1OT1, LIT1	KCNQ1-opposite strand/antisense transcript 1	KCNQ1OT1	10984	ENSG00000269821		Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant	Kcnq1ot1 (MGI:1926855)
chr11	2800001	11700000	11p15.4		616121	GVINP1, VLIG1	GTPase, very large interferon-inducible, pseudogene 1	GVINP1	387751	ENSG00000254838			
chr11	2870033	2872105	11p15.5	11p15.4	610980	KCNQ1DN	KCNQ1 downstream neighbor	KCNQ1DN	55539	ENSG00000237941			
chr11	2883218	2885775	11p15.5	11p15.4	600856	CDKN1C, KIP2, BWS, IMAGE	Cyclin-dependent kinase inhibitor 1C (p57, Kip2)	CDKN1C	1028	ENSG00000129757	rare cause of BWS	IMAGE syndrome, 614732 (3), Autosomal dominant; Beckwith-Wiedemann syndrome, 130650 (3), Autosomal dominant	Cdkn1c (MGI:104564)
chr11	2887344	2903575	11p15.5	11p15.4	603240	SLC22A1LS, ORCTL2S, BWSCR1B	Solute carrier family 22, member 1-like-antisense	SLC67A1-AS	5003	ENSG00000254827			
chr11	2899691	2925246	11p15.5	11p15.4	602631	SLC22A1L, BWSCR1A, IMPT1	Solute carrier family 22, member 1-like (Beckwith-Wiedemann region 1A; organic-cation transporter-like 2)	SLC67A1	5002	ENSG00000110628		Breast cancer, somatic, 114480 (3); Lung cancer, somatic, 211980 (3); Rhabdomyosarcoma, somatic, 268210 (3)	Slc22a18 (MGI:1336884)
chr11	2928273	2929420	11p15.5	11p15.4	602131	PHLDA2, TSSC3, IPL, BRW1C	Pleckstrin homology-like domain, family A, member 2	PHLDA2	7262	ENSG00000181649			Phlda2 (MGI:1202307)
chr11	2944437	2992329	11p15.5	11p15.4	601651	NAP1L4, NAP2L, NAP2	Nucleosome assembly protein 1-like 4	NAP1L4	4676	ENSG00000205531			Nap1l4 (MGI:1316687)
chr11	3000929	3057423	11p15.5	11p15.4	123859	CARS1, CARS, MDBH	Cysteinyl-tRNA synthetase 1	CARS1	833	ENSG00000110619		Microcephaly, developmental delay, and brittle hair syndrome, 618891 (3), Autosomal recessive	Cars1 (MGI:1351477)
chr11	3087107	3165310	11p15.4	11p15.4	606733	OSBPL5, ORP5, KIAA1534	Oxysterol-binding protein-like protein 5	OSBPL5	114879	ENSG00000021762			Osbpl5 (MGI:1930265)
chr11	3217944	3218813	11p15.5	11p15.4	607234	MRGPRG, MRGG	MAS-related G protein-coupled receptor family, member G	MRGPRG	386746	ENSG00000182170			Mrgprg (MGI:3033145)
chr11	3225030	3232417	11p15.4	11p15.4	607232	MRGPRE, MRGE	Mas-related G protein-coupled receptor family, member E	MRGPRE	116534	ENSG00000184350			Mrgpre (MGI:2441884)
chr11	3357927	3379146	11p15.5	11p15.4	602187	ZNF195	Zinc finger protein-195	ZNF195	7748	ENSG00000005801			
chr11	3380961	3409148	11p15.5	11p15.4	608999	TSSC2	Tumor-suppressing subtransferable fragment candidate gene 2	TSSC2	650368	ENSG00000290960			
chr11	3638512	3642379	11p15	11p15.4	610625	ART5	ADP-ribosyltransferase 5	ART5	116969	ENSG00000167311			Art5 (MGI:107948)
chr11	3645128	3664416	11p15	11p15.4	601625	ART1	ADP-ribosyltransferase 1	ART1	417	ENSG00000129744			Art1 (MGI:107511)
chr11	3665587	3671384	11p15.5	11p15.4	606372	CHRNA10	Cholinergic receptor, neuronal nicotinic, alpha polypeptide 10	CHRNA10	57053	ENSG00000129749			Chrna10 (MGI:3609260)
chr11	3675010	3797554	11p15	11p15.4	601021	NUP98	Nucleoporin, 98kD	NUP98	4928	ENSG00000110713	fused with HOXA9, NSD1, NSD3, PMX1, HOXC13, DDX10, TOP1, HOXD11 in myeloid leukemia		Nup98 (MGI:109404)
chr11	3797724	3826371	11p15.5	11p15.4	615187	PGAP2, FRAG1, HPMRS3, MRT17, MRT21	Post-GPI attachment to proteins 2	PGAP2	27315	ENSG00000148985		Hyperphosphatasia with impaired intellectual development syndrome 3, 614207 (3), Autosomal recessive	Pgap2 (MGI:2385286)
chr11	3826978	3840959	11p15.5-p15.4	11p15.4	179505	ARHG	ras homolog gene family, member G (rho G)	RHOG	391	ENSG00000177105			Rhog (MGI:1928370)
chr11	3854604	4093210	11p15.5	11p15.4	605921	STIM1, TAM1, IMD10, STRMK	Stromal interaction molecule 1	STIM1	6786	ENSG00000167323		Myopathy, tubular aggregate, 1, 160565 (3), Autosomal dominant; Stormorken syndrome, 185070 (3), Autosomal dominant; Immunodeficiency 10, 612783 (3), Autosomal recessive	Stim1 (MGI:107476)
chr11	4094685	4138932	11p15.5	11p15.4	180410	RRM1, PEOB6	Ribonucleotide reductase, M1 polypeptide	RRM1	6240	ENSG00000167325		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, 620647 (3), Autosomal recessive, Autosomal dominant	Rrm1 (MGI:98180)
chr11	4384897	4393702	11p15.5	11p15.4	109092	TRIM21, SSA1, RO52	Tripartite motif-containing protein 21	TRIM21	6737	ENSG00000132109			Trim21 (MGI:106657)
chr11	4598672	4608231	11p15.4	11p15.4	613184	TRIM68, SS56, GC109	Tripartite motif-containing protein 68	TRIM68	55128	ENSG00000167333	incorrectly assigned to 2p24 by FISH		Trim68 (MGI:2142077)
chr11	4643982	4655488	11p15.4	11p15.4	611267	OR51E1, DGPCR, PSGR2	Olfactory receptor, family 51, subfamily E, member 1	OR51E1	143503	ENSG00000180785			Or51e1 (MGI:3030392)
chr11	4680171	4697853	11p15.4	11p15.4	611268	OR51E2, PSGR	Olfactory receptor, family 51, subfamily E, member 2	OR51E2	81285	ENSG00000167332			Or51e2 (MGI:2157548)
chr11	4704784	4992429	11p15	11p15.4	605470	MMP26	Matrix metalloproteinase 26 (matrilysin 2)	MMP26	56547	ENSG00000167346			
chr11	5225464	5227071	11p15.5	11p15.4	141900	HBB, ECYT6	Hemoglobin beta	HBB	3043	ENSG00000244734	pseudogene HBBP1 between HBG and HBD loci	Methemoglobinemia, beta type, 617971 (3), Autosomal dominant; Thalassemia-beta, dominant inclusion-body, 603902 (3), Autosomal dominant; Sickle cell disease, 603903 (3), Autosomal recessive; Thalassemia, beta, 613985 (3); Delta-beta thalassemia, 141749 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3); Hereditary persistence of fetal hemoglobin, 141749 (3), Autosomal dominant; Erythrocytosis, familial, 6, 617980 (3), Autosomal dominant; Heinz body anemia, 140700 (3), Autosomal dominant	Hbb-b1,Hbb-b2,Hbb-bh2,Hbb-bs,Hbb-bt (MGI:5474850,MGI:5474852,MGI:96021,MGI:96022,MGI:96025)
chr11	5232838	5234483	11p15.5	11p15.4	142000	HBD	Hemoglobin delta	HBD	3045	ENSG00000223609		Thalassemia due to Hb Lepore (3); Thalassemia, delta- (3)	Hbb-b1,Hbb-b2,Hbb-bh2,Hbb-bs,Hbb-bt (MGI:5474850,MGI:5474852,MGI:96021,MGI:96022,MGI:96025)
chr11	5244554	5245546	11p15.4	11p15.4	616308	BGLT3, LINC01083	Beta-globin locus transcript 3, noncoding	BGLT3	103344929	ENSG00000260629			
chr11	5248269	5249857	11p15.5	11p15.4	142200	HBG1	Hemoglobin, gamma A	HBG1	3047	ENSG00000213934		Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant	Hbb-bh0,Hbb-bh1 (MGI:96023,MGI:96024)
chr11	5253188	5254781	11p15.5	11p15.4	142250	HBG2, TNCY	Hemoglobin, gamma G	HBG2	3048	ENSG00000196565		Fetal hemoglobin quantitative trait locus 1, 141749 (3), Autosomal dominant; Cyanosis, transient neonatal, 613977 (3), Autosomal dominant	Hbb-bh0,Hbb-bh1,Hbb-y (MGI:96023,MGI:96024,MGI:96027)
chr11	5268345	5269945	11p15.5	11p15.4	142100	HBE1	Hemoglobin epsilon	HBE1	3046	ENSG00000213931			Hbb-bh1,Hbb-y (MGI:96024,MGI:96027)
chr11	5269925	5304186	11p15.5	11p15.4	152424	LCRB	Locus control region beta		109580095			Thalassemia, Hispanic gamma-delta-beta, 613985 (3)	
chr11	5507300	5509957	11p15	11p15.4	605473	UBQLN3	Ubiquilin 3	UBQLN3	50613	ENSG00000175520			Ubqln3 (MGI:3045291)
chr11	5588635	5685074	11p15	11p15.4	608487	TRIM5, RNF88	Tripartite motif-containing protein 5	TRIM5	85363	ENSG00000132256			Trim12a,Trim12c,Trim30a,Trim30b,Trim30c,Trim30d,Trim5 (MGI:1923931,MGI:3035181,MGI:3646853,MGI:4821183,MGI:4821256,MGI:4821257,MGI:98178)
chr11	5596111	5612952	11p15	11p15.4	607564	TRIM6	Tripartite motif-containing protein 6	TRIM6	117854	ENSG00000121236			Trim6 (MGI:2137352)
chr11	5619944	5644398	11p15.4-p15.3	11p15.4	605684	TRIM34, RNF21, IFP1	Tripartite motif-containing 34 (RING finger protein-21)	TRIM34	53840	ENSG00000258659			Trim34a,Trim34b (MGI:2137359,MGI:4821264)
chr11	5689790	5710863	11p15	11p15.4	606559	TRIM22, STAF50	Tripartite motif-containing protein 22	TRIM22	10346	ENSG00000132274			
chr11	6211345	6234636	11p15.4	11p15.4	620229	FHIP1B, FAM160A2, C11orf56	FHF complex subunit hook-interacting protein 1B	FHIP1B	84067	ENSG00000051009			Fhip1b (MGI:1921599)
chr11	6234793	6244976	11p15.4	11p15.4	609472	CNGA4	Cyclic nucleotide-gated channel, alpha-4	CNGA4	1262	ENSG00000132259			Cnga4 (MGI:2664099)
chr11	6259838	6272127	11p15.5-p15.4	11p15.4	118445	CCKBR, GASR	Cholecystokinin B receptor	CCKBR	887	ENSG00000110148			Cckbr (MGI:99479)
chr11	6318946	6320501	11p15.4	11p15.4	618303	CAVIN3, SRBC	Caveolae-associated protein 3	CAVIN3	112464	ENSG00000170955			Cavin3 (MGI:1923422)
chr11	6390474	6394996	11p15.4-p15.1	11p15.4	607608	SMPD1, NPD	Sphingomyelin phosphodiesterase-1, acid lysosomal	SMPD1	6609	ENSG00000166311		Niemann-Pick disease, type B, 607616 (3), Autosomal recessive; Niemann-Pick disease, type A, 257200 (3), Autosomal recessive	Smpd1 (MGI:98325)
chr11	6395124	6419453	11p15	11p15.4	602709	APBB1, FE65	Amyloid beta A4 precursor protein-binding, family B, member-1	APBB1	322	ENSG00000166313			Apbb1 (MGI:107765)
chr11	6431049	6440987	11p15.5-p15.4	11p15.4	142290	HPX	Hemopexin	HPX	3263	ENSG00000110169			Hpx (MGI:105112)
chr11	6448613	6474459	11p15.4	11p15.4	605493	TRIM3, RNF22, BERP	Tripartite motif-containing 3	TRIM3	10612	ENSG00000110171			Trim3 (MGI:1860040)
chr11	6476519	6481331	11p15.4	11p15.4	601638	ARFIP2, POR1	ADP-ribosylation factor-interacting protein 2	ARFIP2	23647	ENSG00000132254			Arfip2 (MGI:1924182)
chr11	6481501	6484681	11p15.5-p15.2	11p15.4	607388	FXC1, TIMM10B	Fracture callus 1, rat, homolog of	TIMM10B	26515	ENSG00000132286			Timm10b (MGI:1315196)
chr11	6497280	6572020	11p15.4	11p15.4	617277	DNHD1, FLJ00251, SPGF65	Dynein heavy chain domain 1	DNHD1	144132	ENSG00000179532		Spermatogenic failure 65, 619712 (3), Autosomal recessive	Dnhd1 (MGI:1924755)
chr11	6595072	6603616	11p15.4	11p15.4	615818	RRP8, NML, KIAA0409	Ribosomal RNA processing protein 8, homolog of	RRP8	23378	ENSG00000132275			Rrp8 (MGI:1914251)
chr11	6603774	6610870	11p15.5-p15.4	11p15.4	602366	ILK, P59	Integrin-linked kinase	ILK	3611	ENSG00000166333			Ilk (MGI:1195267)
chr11	6606294	6612216	11p15.3	11p15.4	600475	TAF10, TAF2H, TAF2A	TAF10 RNA polymerase II, TATA box-binding protein-associated factor, 30kD	TAF10	6881	ENSG00000166337			Taf10 (MGI:1346320)
chr11	6612768	6619422	11p15.5	11p15.4	607998	TPP1, CLN2, SCAR7	Tripeptidyl peptidase 1	TPP1	1200	ENSG00000166340		Ceroid lipofuscinosis, neuronal, 2, 204500 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 7, 609270 (3), Autosomal recessive	Tpp1 (MGI:1336194)
chr11	6621330	6655809	11p15.4	11p15.4	603057	DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2	Dachsous, Drosophila, homolog of, 1	DCHS1	8642	ENSG00000166341		Mitral valve prolapse 2, 607829 (3), Autosomal dominant; Van Maldergem syndrome 1, 601390 (3), Autosomal recessive	Dchs1 (MGI:2685011)
chr11	6680385	6683340	11p15.5-p15.4	11p15.4	611830	MRPL17	Mitochondrial ribosomal protein L17	MRPL17	63875	ENSG00000158042			Mrpl17 (MGI:1351608)
chr11	6791736	6799689	11p15	11p15.4	608495	OR6A2, OR6A1	Olfactory receptor, family 6, subfamily A, member 2	OR6A2	8590	ENSG00000184933			Or6a2 (MGI:97432)
chr11	6845683	6846636	11p15.4	11p15.4	608493	OR10A1	Olfactory receptor, family 10, subfamily A, member 1	OR10A5	144124	ENSG00000166363			Or10a2,Or10a5 (MGI:3030547,MGI:3030548)
chr11	6891574	6892500	11p15.4	11p15.4	608494	OR2D2	Olfactory receptor, family 2, subfamily D, member 2	OR2D2	120776	ENSG00000166368			Or2d2,Or2d2b (MGI:3030549,MGI:3647188)
chr11	6926426	6994423	11p15.4	11p15.4	605016	ZNF215	Zinc finger protein-215	ZNF215	7762	ENSG00000149054			
chr11	6997085	7020346	11p15.4	11p15.4	605015	ZNF214	Zinc finger protein-214	ZNF214	7761	ENSG00000149050			
chr11	7020446	7090900	11p15.4	11p15.4	609665	NLRP1, NALP14, NOD5	NLR family, pyrin domain containing 1	NLRP14	338323	ENSG00000158077			Nlrp14 (MGI:1924108)
chr11	7088998	7091148	11p15	11p15.4	605444	RBMXL2, HNRNPGT, HNRPGT	RNA-binding motif protein, X chromosome, like 2	RBMXL2	27288	ENSG00000170748			Rbmxl2 (MGI:1923822)
chr11	7238778	7469043	11p15.4	11p15.4	613528	SYT9	Synaptotagmin 9	SYT9	143425	ENSG00000170743			Syt9 (MGI:1926373)
chr11	7513999	7667304	11p15.4	11p15.4	603142	PPFIB2	PPFIA-binding protein 2	PPFIBP2	8495	ENSG00000166387			Ppfibp2 (MGI:894649)
chr11	7665095	7674267	11p15.4	11p15.4	608342	CYB5R2	Cytochrome b5 reductase 2	CYB5R2	51700	ENSG00000166394			Cyb5r2 (MGI:2444415)
chr11	7678693	7706477	11p15.4	11p15.4	618962	OVCH2	Ovochymase 2	OVCH2	341277	ENSG00000183378			Ovch2 (MGI:3045251)
chr11	7957537	7965447	11p15	11p15.4	609662	NLRP10, NALP10, PYNOD, NOD8	NLR family, pyrin domain containing 10	NLRP10	338322	ENSG00000182261			Nlrp10 (MGI:2444084)
chr11	7987337	8001852	11p15.4	11p15.4	603914	EIF3F, EIF3S5, MRT67	Eukaryotic translation initiation factor 3, subunit F	EIF3F	8665	ENSG00000175390		Intellectual developmental disorder, autosomal recessive 67, 618295 (3), Autosomal recessive	Eif3f (MGI:1913335)
chr11	8019059	8106243	11p15.4	11p15.4	601197	TUB, RDOB	Tubby, mouse, homolog of	TUB	7275	ENSG00000166402	mutation identified in 1 RDOB family	?Retinal dystrophy and obesity, 616188 (3), Autosomal recessive	Tub (MGI:2651573)
chr11	8092965	8169025	11p15.4	11p15.4	610509	RIC3	RIC3 acetylcholine receptor chaperone	RIC3	79608	ENSG00000166405			Ric3 (MGI:2443887)
chr11	8224309	8268787	11p15	11p15.4	186921	LMO1, RBTN1, RHOM1	LIM domain only 1 (rhombotin 1)	LMO1	4004	ENSG00000166407		Leukemia, T-cell acute lymphoblastic, 186921 (2)	Lmo1 (MGI:102812)
chr11	8334824	8594228	11p15.3	11p15.4	607670	STK33, SPGF93	Serine/threonine protein kinase 33	STK33	65975	ENSG00000130413	mutation identified in 1 SPGF93 family	?Spermatogenic failure 93, 620849 (3), Autosomal recessive	Stk33 (MGI:2152419)
chr11	8612040	8683231	11p15.4	11p15.4	612000	TRIM66, TIF1D, KIAA0298	Tripartite motif-containing protein 66	TRIM66	9866	ENSG00000166436			Trim66 (MGI:2152406)
chr11	8682792	8689872	11p15	11p15.4	603637	RPL27A	Ribosomal protein L27a	RPL27A	6157	ENSG00000166441			Rpl27a (MGI:1347076)
chr11	8685439	8685569	11p15.4	11p15.4	611333	SNORA3B, SNORA45	Small nucleolar RNA, H/ACA box 3B	SNORA3B	677826	ENSG00000212607			
chr11	8693352	8910951	11p15	11p15.4	140750	ST5, HTS1	Suppression of tumorigenicity-5	DENND2B	6764	ENSG00000166444			Dennd2b (MGI:108517)
chr11	8911189	8920079	11p15.3	11p15.4	609191	AKIP1, BCA3, C11orf17	Protein kinase A-interacting protein 1	AKIP1	56672	ENSG00000166452			Akip1 (MGI:3041226)
chr11	8937578	8943016	11p15.4	11p15.4	609154	ASCL3, SGN1	Achaete-scute family bHLH transcription factor 3	ASCL3	56676	ENSG00000176009			Ascl3 (MGI:1928820)
chr11	8947202	8964947	11p15.4	11p15.4	620293	TMEM9B	TMEM9 domain family, member B	TMEM9B	56674	ENSG00000175348			Tmem9b (MGI:1915254)
chr11	8980576	9004505	11p15.3	11p15.4	613125	NRIP3	Nuclear receptor-interacting protein 3	NRIP3	56675	ENSG00000175352			Nrip3 (MGI:1925843)
chr11	9019476	9091599	11p15.4	11p15.4	611747	SCUBE2	Signal peptide-, CUB domain-, and EGF-like domains-containing protein 2	SCUBE2	57758	ENSG00000175356			Scube2 (MGI:1928765)
chr11	9138825	9265350	11p15.4	11p15.4	617278	DENND5A, RAB6IP1, KIAA1091, DEE49	DENN domain-containing protein 5A	DENND5A	23258	ENSG00000184014		Developmental and epileptic encephalopathy 49, 617281 (3), Autosomal recessive	Dennd5a (MGI:1201681)
chr11	9280654	9314593	11p15.4	11p15.4	620271	TMEM41B, STASIMON	Transmembrane protein 41B	TMEM41B	440026	ENSG00000166471			Tmem41b (MGI:1289225)
chr11	9384652	9448127	Chr.11	11p15.4	605586	IPO7, RANBP7	Importin 7	IPO7	10527	ENSG00000205339			Ipo7 (MGI:2152414)
chr11	9461012	9528524	11p15.4-p15.3	11p15.4	603433	ZNF143, SBF	Zinc finger protein-143	ZNF143	7702	ENSG00000166478			Zfp143 (MGI:1277969)
chr11	9573670	9589985	11p15.3-p15.1	11p15.4	193525	WEE1	WEE1 G2 checkpoint kinase	WEE1	7465	ENSG00000166483			Wee1 (MGI:103075)
chr11	9664077	9752993	11p15	11p15.4	604762	SWAP70	Switch-associated protein 70	SWAP70	23075	ENSG00000133789			Swap70 (MGI:1298390)
chr11	9778668	10304841	11p15	11p15.4	607697	SBF2, MTMR13, CMT4B2	SET binding factor 2 (myotubularin-related 13)	SBF2	81846	ENSG00000133812		Charcot-Marie-Tooth disease, type 4B2, 604563 (3), Autosomal recessive	Sbf2 (MGI:1921831)
chr11	10305073	10307397	11p15.4	11p15.4	103275	ADM	Adrenomedullin	ADM	133	ENSG00000148926			Adm (MGI:108058)
chr11	10450388	10507579	11pter-p13	11p15.4	102772	AMPD3	Adenosine monophosphate deaminase-3, isoform E	AMPD3	272	ENSG00000133805		[AMP deaminase deficiency, erythrocytic], 612874 (3), Autosomal recessive	Ampd3 (MGI:1096344)
chr11	10511673	10541187	11p15	11p15.4	616641	RNF141, ZNF230	RING finger protein 141	RNF141	50862	ENSG00000110315			Rnf141 (MGI:1914400)
chr11	10556966	10568665	Chr.11	11p15.4	605702	LYVE1	Lymphatic vessel endothelial hyaluronan receptor 1	LYVE1	10894	ENSG00000133800			Lyve1 (MGI:2136348)
chr11	10573095	10693755	11p15.4-p15.3	11p15.4	604673	IRAG1, MRVI1	Inositol 1,4,5-triphosphate receptor associated 1	IRAG1	10335	ENSG00000072952			Irag1 (MGI:1338023)
chr11	10751246	10779746	11p15.3	11p15.4	609366	SH2BP1, KIAA0155, p150	SH2 domain-binding protein 1	CTR9	9646	ENSG00000198730			Ctr9 (MGI:109345)
chr11	10797046	10808926	11p15	11p15.4	602325	EIF4G2, DAP5	Eukaryotic translation initiation factor 4G-like 1	EIF4G2	1982	ENSG00000110321			Eif4g2 (MGI:109207)
chr11	10852706	10858053	11p15.3	11p15.4	615251	ZBED5, BUSTER1	Zinc finger BED domain-containing protein 5	ZBED5	58486	ENSG00000236287			Zbed5 (MGI:1919220)
chr11	11270877	11622005	11p15.3	11p15.4	615136	GALNT18, GALNACT18, GALNTL4	UPD-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18	GALNT18	374378	ENSG00000110328			Galnt18 (MGI:2446239)
chr11	11841972	11961887	11p15.3	11p15.3	614460	USP47	Ubiquitin-specific protease 47	USP47	55031	ENSG00000170242			Usp47 (MGI:1922246)
chr11	11963036	12009745	11p15.1	11p15.3	605416	DKK3, RIG	Dickkopf WNT signaling pathway inhibitor 3	DKK3	27122	ENSG00000050165			Dkk3 (MGI:1354952)
chr11	12110590	12362140	11p15.3	11p15.3	608881	MICAL2, KIAA0750, EBITEIN1	Microtubule-associated monooxygenase, calponin and LIM domains-containing 2	MICAL2	9645	ENSG00000133816			Mical2 (MGI:2444947)
chr11	12376436	12535356	11p15	11p15.3	608120	PARVA	Parvin, alpha	PARVA	55742	ENSG00000197702			Parva (MGI:1931144)
chr11	12674421	12944737	11p15.2	11p15.3	189967	TEAD1, TCF13, REF1	TEA domain family member 1	TEAD1	7003	ENSG00000187079		Sveinsson chorioretinal atrophy, 108985 (3), Autosomal dominant	Tead1 (MGI:101876)
chr11	12979534	12989548	11p15.3	11p15.3	618335	LINC00958, BLACAT2	Long intergenic noncoding RNA 958	LINC00958	100506305	ENSG00000251381			
chr11	13009316	13012119	11p15.2	11p15.3	614713	RASSF10	Ras association domain family, member 10	RASSF10	644943	ENSG00000189431			Rassf10 (MGI:1925998)
chr11	13276652	13387266	11p15	11p15.3	602550	ARNTL, BMAL1, TIC	Aryl hydrocarbon receptor nuclear translocator-like	BMAL1	406	ENSG00000133794			Bmal1 (MGI:1096381)
chr11	13388008	13463222	11p15.2	11p15.3	615933	BTBD10	BTB/POZ domain-containing protein 10	BTBD10	84280	ENSG00000148925			Btbd10 (MGI:1916065)
chr11	13492054	13496181	11p15.3-p15.1	11p15.3	168450	PTH, FIH1	Parathyroid hormone	PTH	5741	ENSG00000152266	~9cM distal to CALC1; distal to MYOD	Hypoparathyroidism, familial isolated 1, 146200 (3), Autosomal recessive, Autosomal dominant	Pth (MGI:97799)
chr11	13668668	13732346	11p15.2	11p15.3	616107	FAR1, MLSTD2, PFCRD, CSPSD	Fatty acyl CoA reductase 1	FAR1	84188	ENSG00000197601		Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3), Autosomal recessive; Cataracts, spastic paraparesis, and speech delay, 619338 (3), Autosomal dominant	Far1 (MGI:1914670)
chr11	13962723	14268133	Chr.11	11p15.2	604989	SPON1	F-spondin, Rat, homolog of	SPON1	10418	ENSG00000262655			Spon1 (MGI:2385287)
chr11	14277920	14364506	11pter-p15.5	11p15.2	600098	RRAS2, TC21, NS12	Related Ras viral oncogene homolog 2	RRAS2	22800	ENSG00000133818		Ovarian carcinoma (3); Noonan syndrome 12, 618624 (3), Autosomal dominant	Rras2 (MGI:1914172)
chr11	14457512	14499811	11p15.2	11p15.2	600959	COPB1, COPB, BARMACS	Coatomer protein complex, subunit beta 1	COPB1	1315	ENSG00000129083		Baralle-Macken syndrome, 619255 (3), Autosomal recessive	Copb1 (MGI:1917599)
chr11	14504876	14643662	11p15.1	11p15.2	602854	PSMA1, PROS30	Proteasome subunit, alpha-type, 1	PSMA1	5682	ENSG00000129084			Psma1 (MGI:1347005)
chr11	14643804	14899321	11p15	11p15.2	602047	PDE3B	Phosphodiesterase-3B, cGMP-inhibited	PDE3B	5140	ENSG00000152270			Pde3b (MGI:1333863)
chr11	14877440	14892443	11p15.2	11p15.2	608713	CYP2R1	Cytochrome P450, subfamily IIR, polypeptide 1 (vitamin D 25-hydroxylase)	CYP2R1	120227	ENSG00000186104		Rickets due to defect in vitamin D 25-hydroxylation deficiency, 600081 (3), Autosomal recessive	Cyp2r1 (MGI:2449771)
chr11	14966668	14972351	11p15.2-p15.1	11p15.2	114130	CALCA, CALC1	Calcitonin/calcitonin-related polypeptide, alpha	CALCA	796	ENSG00000110680	same 220kb fragment as CALCB		Calca (MGI:2151253)
chr11	15073593	15078637	11p15.2-p15.1	11p15.2	114160	CALCB, CALC2	Calcitonin-related polypeptide, beta	CALCB	797	ENSG00000175868			Calca,Calcb (MGI:2151253,MGI:2151254)
chr11	15111416	15269676	11p15.2	11p15.2	610668	INSC	INSC spindle orientation adaptor protein	INSC	387755	ENSG00000188487			Insc (MGI:1917942)
chr11	15966449	16738477	11p15.3-p15.2	11p15.2	607257	SOX6, TOLCAS	SRY-box 6	SOX6	55553	ENSG00000110693		Tolchin-Le Caignec syndrome, 618971 (3), Autosomal dominant	Sox6 (MGI:98368)
chr11	16738647	16758340	11p15.2	11p15.2	619625	C11orf58	Chromosome 11 open reading frame 58	C11orf58	10944	ENSG00000110696			1110004F10Rik (MGI:1929274)
chr11	16777297	17014414	11p15.1	11p15.2-p15.1	612686	PLEKHA7	Pleckstrin homology domain-containing protein, family A, member 7	PLEKHA7	144100	ENSG00000166689			Plekha7 (MGI:2445094)
chr11	17074388	17077667	11p	11p15.1	180476	RPS13	Ribosomal protein S13	RPS13	6207	ENSG00000110700			Rps13 (MGI:1915302)
chr11	17086575	17207986	11p15.1	11p15.1	603601	PIK3C2A, CPK, OCSKD	Phosphatidylinositol 3-kinase, class 2, alpha	PIK3C2A	5286	ENSG00000011405		Oculoskeletodental syndrome, 618440 (3), Autosomal recessive	Pik3c2a (MGI:1203729)
chr11	17276739	17349980	11p15-p14	11p15.1	608020	NUCB2, NEFA	Nucleobindin 2	NUCB2	4925	ENSG00000070081			Nucb2 (MGI:1858179)
chr11	17351800	17381661	11p15.1	11p15.1	613714	NCR3LG1, B7H6	Natural killer cell cytotoxicity receptor 3 ligand 1	NCR3LG1	374383	ENSG00000188211			
chr11	17385248	17389346	11p15.1	11p15.1	600937	KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13, PNDM2	Potassium inwardly-rectifying channel, subfamily J, member 11	KCNJ11	3767	ENSG00000187486	4.5kb 3' of SUR	Diabetes, permanent neonatal 2, with or without neurologic features, 618856 (3), Autosomal dominant; Maturity-onset diabetes of the young, type 13, 616329 (3), Autosomal dominant; Diabetes mellitus, transient neonatal 3, 610582 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3), Autosomal recessive, Autosomal dominant	Kcnj11 (MGI:107501)
chr11	17392498	17476845	11p15.1	11p15.1	600509	ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2, PNDM3	ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor)	ABCC8	6833	ENSG00000006071		Diabetes mellitus, permanent neonatal 3, with or without neurologic features, 618857 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, transient neonatal 2, 610374 (3), Autosomal dominant; Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; Hypoglycemia of infancy, leucine-sensitive, 240800 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3), Autosomal recessive, Autosomal dominant	Abcc8 (MGI:1352629)
chr11	17493900	17544416	11p15.1	11p15.1	605242	USH1C, DFNB18A	USH1 protein network component harmonin	USH1C	10083	ENSG00000006611	Acadian and Samaritan variety	Usher syndrome, type 1C, 276904 (3), Autosomal recessive; Deafness, autosomal recessive 18A, 602092 (3), Autosomal recessive	Ush1c (MGI:1919338)
chr11	17547259	17646044	11p14.3	11p15.1	604487	OTOG, OTGN, DFNB18B	Otogelin	OTOG	340990	ENSG00000188162		Deafness, autosomal recessive 18B, 614945 (3), Autosomal recessive	Otog (MGI:1202064)
chr11	17719571	17722136	11p15.4	11p15.1	159970	MYOD1, MYF3, CMYO17	Myogenic differentiation 1	MYOD1	4654	ENSG00000129152		Congenital myopathy 17, 618975 (3), Autosomal recessive	Myod1 (MGI:97275)
chr11	17734781	17783057	11p15	11p15.1	176258	KCNC1, EPM7	Potassium voltage-gated channel, Shaw-related subfamily, member 1	KCNC1	3746	ENSG00000129159		Epilepsy, progressive myoclonic 7, 616187 (3), Autosomal dominant	Kcnc1 (MGI:96667)
chr11	17788048	18013047	11p14	11p15.1	606051	SERGEF, DELGEF	Secretion-regulating guanine nucleotide exchange factor	SERGEF	26297	ENSG00000129158			Sergef (MGI:1351630)
chr11	18017555	18046269	11p15.3-p14	11p15.1	191060	TPH1, TPH	Tryptophan hydroxylase 1 (tryptophan-5-monooxygenase)	TPH1	7166	ENSG00000129167			Tph1 (MGI:98796)
chr11	18120955	18138488	11p15.1	11p15.1	607229	MRGPRX3, MRGX3	Mas-related G protein-coupled receptor family, member X3	MRGPRX3	117195	ENSG00000179826			Mrgpra1,Mrgpra2a,Mrgpra2b,Mrgpra3,Mrgpra5,Mrgpra7,Mrgpra9,Mrgprb3,Mrgprb4,Mrgprb5,Mrgprb8,Mrgprx1 (MGI:2684085,MGI:3033095,MGI:3033098,MGI:3033102,MGI:3033109,MGI:3033117,MGI:3033119,MGI:3033121,MGI:3033134,MGI:3033139,MGI:3033148,MGI:3821888)
chr11	18172837	18174280	11p15.1	11p15.1	607230	MRGPRX4, MRGX4	Mas-related G protein-coupled receptor family, member X4	MRGPRX4	117196	ENSG00000179817			Mrgpra1,Mrgpra2a,Mrgpra2b,Mrgpra3,Mrgpra4,Mrgpra5,Mrgpra6,Mrgpra7,Mrgpra8,Mrgpra9,Mrgprb5,Mrgprx1 (MGI:2684085,MGI:3033095,MGI:3033098,MGI:3033100,MGI:3033102,MGI:3033107,MGI:3033109,MGI:3033111,MGI:3033121,MGI:3033139,MGI:3033148,MGI:3821888)
chr11	18231355	18236802	11p15.1	11p15.1	104752	SAA4	Serum amyloid A4, constitutive	SAA4	6291	ENSG00000148965			Saa4 (MGI:98224)
chr11	18238236	18248668	11p15.1	11p15.1	104751	SAA2	Serum amyloid A2	SAA2	6289	ENSG00000134339	pseudogene = SAA3		Saa1,Saa2 (MGI:98221,MGI:98222)
chr11	18266264	18269967	11p15.1	11p15.1	104750	SAA1	Serum amyloid A1	SAA1	6288	ENSG00000173432			Saa1,Saa2 (MGI:98221,MGI:98222)
chr11	18278670	18322174	11p15-p13	11p15.1	607521	HPS5, RU2, KIAA1017	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	HPS5	11234	ENSG00000110756		Hermansky-Pudlak syndrome 5, 614074 (3), Autosomal recessive	Hps5 (MGI:2180307)
chr11	18322567	18367045	11p15.1-p14	11p15.1	189972	GTF2H1	General transcription factor IIH, polypeptide 1 (62kD subunit)	GTF2H1	2965	ENSG00000110768	within 50kb of LDHA		Gtf2h1 (MGI:1277216)
chr11	18394563	18408425	11p15.4	11p15.1	150000	LDHA, LDH1, GSD11	Lactate dehydrogenase A	LDHA	3939	ENSG00000134333		Glycogen storage disease XI, 612933 (3), Autosomal recessive	Ldha (MGI:96759)
chr11	18412318	18452063	11p15.5-p15.3	11p15.1	150150	LDHC, LDH3	Lactate dehydrogenase C	LDHC	3948	ENSG00000166796	closely linked to LDHB in other species; in man syntenic with LDHA; ?close to LDHA		Ldhc (MGI:96764)
chr11	18455856	18479601	11p15.1	11p15.1	618928	LDHAL6A	Lactate dehydrogenase A-like protein 6A	LDHAL6A	160287	ENSG00000166800			Ldhal6b (MGI:2146830)
chr11	18480311	18526942	11p15.2-p15.1	11p15.1	601387	TSG101	Tumor susceptibility gene 101	TSG101	7251	ENSG00000074319			Tsg101 (MGI:106581)
chr11	18529609	18588734	11p15.2-p15.1	11p15.1	610985	UEVLD, UEV3, ATTP	Ubiquitin E2 variant and lactate/malate dehydrogenase domains-containing protein	UEVLD	55293	ENSG00000151116			Uevld (MGI:1860490)
chr11	18599789	18609874	11p15.1	11p15.1	620764	MISFA, KASTOR, POLLUKS	Mitochondrial sheath formation-associated gene	MISFA	100506540	ENSG00000247595			Misfa (MGI:3642801)
chr11	18727928	18792721	11p15.2-p15.1	11p15.1	176879	PTPN5, STEP, STEP61	Protein tyrosine phosphatase, nonreceptor-type, 5 (striatum-enriched)	PTPN5	84867	ENSG00000110786			Ptpn5 (MGI:97807)
chr11	18933499	18939414	11p15.1	11p15.1	607227	MRGPRX1, MRGX1	Mas-related G protein-coupled receptor family, member X1	MRGPRX1	259249	ENSG00000170255			Mrgpra3,Mrgpra5,Mrgpra7,Mrgprb2,Mrgprb3,Mrgprb4,Mrgprb5,Mrgprb8,Mrgprx1,Mrgprx2 (MGI:2441674,MGI:2684085,MGI:3033102,MGI:3033109,MGI:3033117,MGI:3033119,MGI:3033121,MGI:3033134,MGI:3033139,MGI:3588270)
chr11	19054455	19060717	11p15.1	11p15.1	607228	MRGPRX2, MRGX2	Mas-related G protein-coupled receptor family, member X2	MRGPRX2	117194	ENSG00000183695			Mrgpra3,Mrgpra5,Mrgpra7,Mrgprb1,Mrgprb2,Mrgprb3,Mrgprb4,Mrgprb5,Mrgprb8,Mrgprx2 (MGI:2441674,MGI:2684085,MGI:3033102,MGI:3033109,MGI:3033115,MGI:3033117,MGI:3033119,MGI:3033121,MGI:3033134,MGI:3588270)
chr11	19117104	19176415	11p15.1	11p15.1	612815	ZDHHC13, HIP14L	Zinc finger DHHC domain-containing protein 13	ZDHHC13	54503	ENSG00000177054			Zdhhc13 (MGI:1919227)
chr11	19182030	19201983	11p15.1	11p15.1	600824	CSRP3, CRP3, CLP, CMD1M, CMH12	Cysteine- and glycine-rich protein 3	CSRP3	8048	ENSG00000129170	mutation identified in 1 CMD1M family	?Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy, hypertrophic, 12, 612124 (3), Autosomal dominant	Csrp3 (MGI:1330824)
chr11	19224063	19241655	11p15.1	11p15.1	612047	E2F8	E2F transcription factor 8	E2F8	79733	ENSG00000129173			E2f8 (MGI:1922038)
chr11	19345236	20121601	11p15.1	11p15.1	607026	NAV2, RAINB1, KIAA1419	Neuron navigator 2	NAV2	89797	ENSG00000166833			Nav2 (MGI:2183691)
chr11	20156155	20160475	11p15.1	11p15.1	619830	DBX1, HLX1	Developing brain homeobox 1	DBX1	120237	ENSG00000109851			Dbx1 (MGI:94867)
chr11	20363714	20383782	11p15.1	11p15.1	605628	HTATIP2, TIP30, CC3	HIV-1 TAT-interacting protein 2, 30kD	HTATIP2	10553	ENSG00000109854			Htatip2 (MGI:1859271)
chr11	20387716	20509338	11p15.1	11p15.1	603190	PRMT3, HRMT1L3	Protein arginine methyltransferase 3	PRMT3	10196	ENSG00000185238			Prmt3 (MGI:1919224)
chr11	20599608	20659285	11p15.2-p15.1	11p15.1	604159	SLC6A5, GLYT2, HKPX3	Solute carrier family 6 (neurotransmitter transporter, glycine), member 5	SLC6A5	9152	ENSG00000165970		Hyperekplexia 3, 614618 (3), Autosomal recessive, Autosomal dominant	Slc6a5 (MGI:105090)
chr11	20669551	21575686	11p15.2-p15.1	11p15.1	602319	NELL1	Neural epidermal growth factor-like protein 1	NELL1	4745	ENSG00000165973			Nell1 (MGI:2443902)
chr11	22000001	43400000	11p14.3-p12		185440	ST2	Suppression of tumorigenicity-2		6761				
chr11	22000001	31000000	11p14		613636	TST1	Tuberculin skin test reactivity, absence of		100526790		at chr11:26.37M	[Tuberculin skin test reactivity, absence of], 613636 (2)	
chr11	22192473	22283357	11p14.3	11p14.3	608662	ANO5, TMEM16E, GDD1, LGMDR12	Anoctamin 5	ANO5	203859	ENSG00000171714		Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3), Autosomal recessive; Miyoshi muscular dystrophy 3, 613319 (3), Autosomal recessive; Gnathodiaphyseal dysplasia, 166260 (3), Autosomal dominant	Ano5 (MGI:3576659)
chr11	22338381	22379503	11p14.3	11p14.3	607563	SLC17A6, VGLUT2, DNPI	Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6	SLC17A6	57084	ENSG00000091664			Slc17a6 (MGI:2156052)
chr11	22622533	22625823	11p15	11p14.3	613897	FANCF	Fanconi anemia, complementation group F	FANCF	2188	ENSG00000183161		Fanconi anemia, complementation group F, 603467 (3), Autosomal recessive	Fancf (MGI:3689889)
chr11	22626002	22813055	11p15.2-p14.3	11p14.3	602835	GAS2, DFNB125	Growth arrest-specific 2	GAS2	2620	ENSG00000148935	mutation identified in 1 GAS2 family	?Deafness, autosomal recessive 125, 620877 (3), Autosomal recessive	Gas2 (MGI:95657)
chr11	22818927	22829801	11p14.3	11p14.3	620965	SVIP	Small VCP-interacting protein	SVIP	258010	ENSG00000198168			Svip (MGI:1922994)
chr11	24497053	25082638	11p14-p13	11p14.3	608178	LUZP2	Leucine zipper protein 2	LUZP2	338645	ENSG00000187398			Luzp2 (MGI:1889615)
chr11	26188808	26663289	11p14	11p14.3-p14.2	610110	ANO3, TMEM16C, C11orf25, DYT24	Anoctamin 3	ANO3	63982	ENSG00000134343		Dystonia 24, 615034 (3), Autosomal dominant	Ano3 (MGI:3613666)
chr11	26200001	63600000	11p14.2-q12.3		612642	DFNA59	Deafness, autosomal dominant 59		100271924		between D22S929 and D11S480	Deafness, autosomal dominant 59, 612642 (2), Autosomal dominant	
chr11	26559032	26572263	11p14.2	11p14.2	608566	MUC15, PAS3	Mucin 15, transmembrane	MUC15	143662	ENSG00000169550			Muc15 (MGI:2442110)
chr11	26667020	26723389	11p14.2	11p14.2	612455	SLC5A12, SMCT2	Solute carrier family 5 (sodium/glucose cotransporter), member 12	SLC5A12	159963	ENSG00000148942			Slc5a12 (MGI:2138890)
chr11	26994112	26997087	11p14.2	11p14.2	617085	FIBIN	Fin bud initiation factor, zebrafish, homolog of	FIBIN	387758	ENSG00000176971			Fibin (MGI:1914856)
chr11	27040815	27127809	11p14.2	11p14.2	603312	BBOX1, BBOX	Butyrobetaine-gamma, 2-oxoglutarate dioxygenase 1	BBOX1	8424	ENSG00000129151			Bbox1 (MGI:1891372)
chr11	27200001	48800000	11p14.1-p11.2		613364	SPG41	Spastic paraplegia 41		100359402		max lod 2.36; between D11S1324 and D11S1993	?Spastic paraplegia 41, autosomal dominant, 613364 (2), Autosomal dominant	
chr11	27338512	27363215	11p14.1	11p14.1	612324	CCDC34, SPGF76	Coiled-coil domain-containing protein 34	CCDC34	91057	ENSG00000109881		Spermatogenic failure 76, 620084 (3), Autosomal recessive	Ccdc34 (MGI:1915451)
chr11	27365961	27472790	11p14.1	11p14.1	606666	LGR4, GPR48, BNMD17, DPSL	Leucine-rich repeat-containing G protein-coupled receptor 4	LGR4	55366	ENSG00000205213	previously mapped to 5q34-q35.1	Delayed puberty, self-limited, 619613 (3), Autosomal dominant; {Bone mineral density, low, susceptibility to}, 615311 (3), Autosomal dominant	Lgr4 (MGI:1891468)
chr11	27494418	27506769	11p14.1	11p14.1	612332	LIN7C, VELI3, MALS3	Lin7 homolog C, crumbs cell polarity complex component	LIN7C	55327	ENSG00000148943			Lin7c (MGI:1330839)
chr11	27506852	27698171	11p14	11p14.1	611468	BDNFAS, BDNFOS	BDNF antisense RNA	BDNF-AS	497258	ENSG00000245573			
chr11	27654893	27722030	11p13	11p14.1	113505	BDNF	Brain-derived neurotrophic factor	BDNF	627	ENSG00000176697	homeology with NRF3 on 12p; at p14 boundary		Bdnf (MGI:88145)
chr11	27888171	27891092	11p14.1	11p14.1	140575	HSP90AA2P, HSP90AA2, HSPCAL3	Heat-shock protein, 90kD, alpha, class A, member 2, pseudogene	HSP90AA2P	3324				
chr11	28020619	28108156	11p14	11p14.1	611271	KIF18A	Kinesin family member 18A	KIF18A	81930	ENSG00000121621			Kif18a (MGI:2446977)
chr11	28056815	28056910	11p14.1	11p14.1	612330	MIR610, MIRN610	Micro RNA 610	MIR610	693195	ENSG00000207874			
chr11	28108388	28532475	11p14.1	11p14.1	618711	METTL15	Methyltransferase-like 15	METTL15	196074	ENSG00000169519			Mettl15 (MGI:1924144)
chr11	30009730	30017030	11q13.4-q14.1	11p14.1	176266	KCNA4, KCNA8, MCIDDS	Potassium voltage-gated channel, shaker-related subfamily, member 4	KCNA4	3739	ENSG00000182255	other map to 11p	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3), Autosomal recessive	Kcna4 (MGI:96661)
chr11	30231014	30235194	11p13	11p14.1	136530	FSHB, HH24	Follicle-stimulating hormone, beta polypeptide	FSHB	2488	ENSG00000131808	distal to AN2	Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3), Autosomal recessive	Fshb (MGI:95582)
chr11	30323104	30338223	11p14.1-p13	11p14.1	612295	C11orf46	Chromosome 11 open reading frame 46	ARL14EP	120534	ENSG00000152219			Arl14ep (MGI:1926020)
chr11	30384079	30586993	11p14-p13	11p14.1	600911	MPPED2, C11orf8, D11S302E, 239FB	Metallophosphoesterase domain-containing protein 2	MPPED2	744	ENSG00000066382			Mpped2 (MGI:1924265)
chr11	30863603	31369739	11p13	11p14.1-p13	608062	DCDC1, DCDC5	Doublecortin domain-containing protein 1	DCDC1	341019	ENSG00000170959			
chr11	31000001	63600000	11p13-q12		607644	CANDF3, CANDN1, FCNC	Candidiasis, familial, 3		338434		between D11S1312 and D11S4191	Candidiasis, familial, 3, 607644 (2), Autosomal dominant	
chr11	31000001	36400000	11p13		616902	DEL11p13, C11DELp13	Chromosome 11p13 deletion syndrome, distal					Chromosome 11p13 deletion syndrome, distal, 616902 (4), Autosomal dominant	
chr11	31000001	36400000	11p13		194072	DEL11p13, C11DELp13, WAGR	Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome (chromosome 11p13 deletion syndrome)				deletion of WT1 and PAX6 genes	Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, 194072 (4), Somatic mutation, Autosomal dominant	
chr11	31000001	43400000	11p13-p12		609941	DFNB51	Deafness, autosomal recessive 51		448963		max lod at D11S4102	Deafness, autosomal recessive 51, 609941 (2), Autosomal recessive	
chr11	31000001	36400000	11p13		117100	ECT, BECTS	Centrotemporal epilepsy		100379198		previously assigned to 15q14	Centrotemporal epilepsy, 117100 (2), Isolated cases	
chr11	31000001	43400000	11p13-p12		605750	EVR3	Exudative vitreoretinopathy 3		81864			Exudative vitreoretinopathy 3, 605750 (2), Autosomal dominant	
chr11	31000001	85900000	11p13-q14.1		614344	MRT23	Intellectual developmental disorder, autosomal recessive 23		100852398		between rs604518 and rs10899421	Intellectual developmental disorder, autosomal recessive 23, 614344 (2), Autosomal recessive	
chr11	31000001	36400000	11p13		609256	MYP7	Myopia 7		553190			Myopia 7, 609256 (2), Multifactorial	
chr11	31000001	43400000	11p13-p12		612469	WAGRO, DEL11p14p12	Wilms tumor, aniridia, genitourinary anomalies, impaired intellectual development and obesity syndrome				contiguous gene deletion syndrome	WAGRO syndrome, 612469 (4), Autosomal dominant	
chr11	31369860	31432835	11p13	11p13	611072	DNAJC24, DPH4	DNAJ/HSP40 homolog, subfamily C, member 24	DNAJC24	120526	ENSG00000170946			Dnajc24 (MGI:1919522)
chr11	31432401	31509622	11p13	11p13	612323	IMMP1L, IMP1	Inner mitochondrial membrane peptidase, subunit 1	IMMP1L	196294	ENSG00000148950			Immp1l (MGI:1913791)
chr11	31509767	31790324	11p13	11p13	606985	ELP4, PAX6NEB, AN2	Elongation protein 4, S. cerevisiae, homolog of	ELP4	26610	ENSG00000109911	mutation identified in 1 AN2 patient	?Aniridia 2, 617141 (3), Autosomal dominant	Elp4 (MGI:1925016)
chr11	31789026	31817961	11p13	11p13	607108	PAX6, AN2, MGDA, FVH1, ASGD5	Paired box homeotic gene-6	PAX6	5080	ENSG00000007372	mutation identified in 1 patient each with MDGA, COLBN, or COLB	Optic nerve hypoplasia, 165550 (3), Autosomal dominant; Cataract with late-onset corneal dystrophy, 106210 (3), Autosomal dominant; Microphthalmia/coloboma 12, 120200 (3), Autosomal dominant; ?Coloboma of optic nerve, 120430 (3), Autosomal dominant; Aniridia, 106210 (3), Autosomal dominant; Anterior segment dysgenesis 5, multiple subtypes, 604229 (3), Autosomal dominant; ?Morning glory disc anomaly, 120430 (3), Autosomal dominant; Foveal hypoplasia 1, 136520 (3), Autosomal dominant; Keratitis, 148190 (3), Autosomal dominant	Pax6 (MGI:97490)
chr11	32091074	32105722	11p13	11p13	602735	RCN1	Reticulocalbin 1	RCN1	5954	ENSG00000049449			Rcn1 (MGI:104559)
chr11	32387775	32435539	11p13	11p13	607102	WT1, NPHS4	WT1 transcription factor	WT1	7490	ENSG00000184937	clumped: pter-FSHB-AN2-WT1-CAT	Mesothelioma, somatic, 156240 (3); Meacham syndrome, 608978 (3), Autosomal dominant; Frasier syndrome, 136680 (3), Somatic mutation, Autosomal dominant; Nephrotic syndrome, type 4, 256370 (3), Autosomal dominant; Denys-Drash syndrome, 194080 (3), Somatic mutation, Autosomal dominant; Wilms tumor, type 1, 194070 (3), Somatic mutation, Autosomal dominant	Wt1 (MGI:98968)
chr11	32435518	32458769	11p13	11p13	607899	WT1AS, WIT1	WT1 antisense RNA	WT1-AS	51352	ENSG00000183242			Wt1os (MGI:2138884)
chr11	32583831	32606264	11p13	11p13	609641	EIF3M, PCID1, B5, GA17	Eukaryotic translation initiation factor 3, subunit M	EIF3M	10480	ENSG00000149100			Eif3m (MGI:1351744)
chr11	32602721	32830585	11p13	11p13	612328	CCDC73	Coiled-coil domain-containing protein 73	CCDC73	493860	ENSG00000186714			Ccdc73 (MGI:3606488)
chr11	32829789	32858120	11p13	11p13	611690	PRRG4, PRGP4, TMG4	Proline-rich gamma-carboxyglutamic acid protein 4	PRRG4	79056	ENSG00000135378			Prrg4 (MGI:2442211)
chr11	32892811	32980270	11p13	11p13	619440	QSER1	Glutamine- and serine-rich protein 1	QSER1	79832	ENSG00000060749			Qser1 (MGI:2138986)
chr11	33015878	33033582	11p13	11p13	612294	DEPDC7, TR2	DEP domain-containing protein 7	DEPDC7	91614	ENSG00000121690			Depdc7 (MGI:2139258)
chr11	33076150	33079454	11p14.1-p13	11p13	612296	LOC283267	Long intergenic noncoding RNA 294	LINC00294	283267	ENSG00000280798			
chr11	33084584	33161480	11p13	11p13	600367	CSTF3	Cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD	CSTF3	1479	ENSG00000176102			Cstf3 (MGI:1351825)
chr11	33256672	33357023	11p13	11p13	604424	HIPK3, PKY, DYRK6	Homeodomain-interacting protein kinase-3	HIPK3	10114	ENSG00000110422			Hipk3 (MGI:1314882)
chr11	33376108	33674102	11p13	11p13	612297	C11orf41, G2	Chromosome 11 open reading frame 41	KIAA1549L	25758	ENSG00000110427			D430041D05Rik (MGI:2181743)
chr11	33703010	33736479	11p13	11p13	107271	CD59, MIC11	CD59 antigen (p18-20)	CD59	966	ENSG00000085063	in mouse Ly-6 = multigene complex	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3), Autosomal recessive	Cd59a,Cd59b (MGI:109177,MGI:1888996)
chr11	33740944	33774520	11p13	11p13	609089	FBXO3, FBX3, FBA	F-box only protein 3	FBXO3	26273	ENSG00000110429			Fbxo3 (MGI:1929084)
chr11	33858576	33892076	11p13	11p13	180385	LMO2, RBTNL1, RHOM2, TTG2	LIM domain only 2 (rhombotin-like 1)	LMO2	4005	ENSG00000135363	3rd rhombotin gene not on 11	Leukemia, acute T-cell, 180385 (2)	Lmo2 (MGI:102811)
chr11	34051731	34102610	11p13	11p13	601178	CAPRIN1, M11S1, GPIAP1, GRIP137, CONDCAC, NEDLAAD	Cell cycle associated protein 1	CAPRIN1	4076	ENSG00000135387		Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, 620782 (3), Autosomal dominant; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, 620636 (3), Autosomal dominant	Caprin1 (MGI:1858234)
chr11	34105629	34146908	11p13	11p13	609221	NAT10, ALP, KIAA1709	N-acetyltransferase 10	NAT10	55226	ENSG00000135372			Nat10 (MGI:2138939)
chr11	34150987	34358010	11p13	11p13	621014	ABTB2, CCA3	Ankyrin repeat- and BTB domain-containing protein 2	ABTB2	25841	ENSG00000166016			Abtb2 (MGI:2139365)
chr11	34438934	34472060	11p13	11p13	115500	CAT	Catalase	CAT	847	ENSG00000121691	cen-CAT-WT1-AN2-pter	Acatalasemia, 614097 (3)	Cat (MGI:88271)
chr11	34478791	34513794	11p15-p13	11p13	605169	ELF5, ESE2	E74-like factor 5 (epithelium-specific ETS factor 2)	ELF5	2001	ENSG00000135374			Elf5 (MGI:1335079)
chr11	34621093	34663288	11p12	11p13	605439	EHF, ESE3	ETS homologous factor	EHF	26298	ENSG00000135373			Ehf (MGI:1270840)
chr11	34882295	34916379	11p13	11p13	612491	APIP, CGI29, MMRP19	APAF1-interacting protein	APIP	51074	ENSG00000149089			Apip (MGI:1926788)
chr11	34915920	34996128	11p13	11p13	608769	PDHX, PDX1, E3BP, PDHXD	Pyruvate dehydrogenase complex, lipoyl-containing component X	PDHX	8050	ENSG00000110435		Lacticacidemia due to PDX1 deficiency, 245349 (3), Autosomal recessive	Pdhx (MGI:1351627)
chr11	35139171	35232402	11pter-p13	11p13	107269	CD44, MDU2, MDU3, MIC4, IN	CD44 antigen (homing function)	CD44	960	ENSG00000026508		[Blood group, Indian system], 609027 (3)	Cd44 (MGI:88338)
chr11	35251205	35420507	11p13-p12	11p13	600300	SLC1A2, EAAT2, DEE41	Solute carrier family 1 (glial high affinity glutamate transporter), member 2	SLC1A2	6506	ENSG00000110436		Developmental and epileptic encephalopathy 41, 617105 (3), Autosomal dominant	Slc1a2 (MGI:101931)
chr11	35618460	35620865	11p13	11p13	612206	FJX1	Four-jointed box kinase 1	FJX1	24147	ENSG00000179431			Fjx1 (MGI:1341907)
chr11	35662775	35818007	11p13	11p13	612298	TRIM44, AN3	Tripartite motif-containing protein 44	TRIM44	54765	ENSG00000166326	mutation identified in 1 AN3 family	?Aniridia 3, 617142 (3), Autosomal dominant	Trim44 (MGI:1931835)
chr11	35944062	36232136	11p13	11p13	617986	LDLRAD3, LRAD3	Low density lipoprotein receptor class A domain-containing protein 3	LDLRAD3	143458	ENSG00000179241			Ldlrad3 (MGI:2138856)
chr11	36272292	36289424	11p13	11p13	612299	COMM9	COMM domain-containing protein 9	COMMD9	29099	ENSG00000110442			Commd9 (MGI:1923751)
chr11	36296288	36465204	11p13-p12	11p13-p12	611728	PRR5L, PROTOR2, FLJ14213	Proline-rich protein 5-like	PRR5L	79899	ENSG00000135362			Prr5l (MGI:1919696)
chr11	36400001	43400000	11p12		611739	BMND8	Bone mineral density QTL 8		100188854		between D11S1392 and D11S4102	{Osteoporosis}, 166710 (2), Autosomal dominant	
chr11	36400001	53400000	11p12-p11		610898	PSNP3	Supranuclear palsy, progressive, 3		100038248			Supranuclear palsy, progressive, 3, 610898 (2)	
chr11	36483769	36510272	11p12	11p12	602355	TRAF6	TNF receptor-associated factor 6	TRAF6	7189	ENSG00000175104			Traf6 (MGI:108072)
chr11	36510353	36579762	11p13	11p12	179615	RAG1	Recombination activating gene-1	RAG1	5896	ENSG00000166349	assignment to 14 in error	Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive; Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)	Rag1 (MGI:97848)
chr11	36590996	36598236	11p13	11p12	179616	RAG2	Recombination activating gene-2	RAG2	5897	ENSG00000175097	assignment to 14 in error	Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive; Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive	Rag2 (MGI:97849)
chr11	36594502	36659272	11p12	11p12	619270	IFTAP, HEPIS, NWC, C11orf74	Intraflagellar transport-associated protein	IFTAP	119710	ENSG00000166352			Iftap (MGI:1915420)
chr11	40114199	41459652	11p12	11p12	608817	LRRC4C, NGL1, KIAA1580	Leucine rich repeat containing 4C (netrin-G1 ligand)	LRRC4C	57689	ENSG00000148948			Lrrc4c (MGI:2442636)
chr11	43311996	43344529	11p12	11p12	609774	API5, AAC11	Apoptosis inhibitor 5	API5	8539	ENSG00000166181			Api5 (MGI:1888993)
chr11	43358920	43494931	11p12-p11.2	11p12-p11.2	619388	TTC17	Tetratricopeptide repeat domain-containing protein 17	TTC17	55761	ENSG00000052841			Ttc17 (MGI:1921819)
chr11	43400001	53400000	11p11		609630	CLLS1	Leukemia, chronic lymphocytic, susceptibility to, 1		100188791			{Leukemia, chronic lymphocytic, susceptibility to, 1}, 609630 (2)	
chr11	43400001	48800000	11p11.2		601224	PSS	Potocki-Shaffer syndrome				contiguous gene syndrome caused by deletion of 11p11.2	Potocki-Shaffer syndrome, 601224 (4), Autosomal dominant	
chr11	43400001	48800000	11p11.2		191270	TYRL	Tyrosinase-like	TYRL	7300				
chr11	43556721	43856615	11p11.2	11p11.2	609574	HSD17B12, KAR	17-beta-hydroxysteroid dehydrogenase XII	HSD17B12	51144	ENSG00000149084			Hsd17b12 (MGI:1926967)
chr11	43880831	43920274	11p11.12	11p11.2	610603	ALKBH3, PCA1, DEPC1, ABH3	AlkB homolog 3, alpha-ketoglutarate-dependent dioxygenase	ALKBH3	221120	ENSG00000166199			Alkbh3 (MGI:1916363)
chr11	44066270	44084237	11p11	11p11.2	608405	ACCS, ACS, PHACS	1-aminocyclopropane-1-carboxylate synthase	ACCS	84680	ENSG00000110455			Accs (MGI:1919717)
chr11	44095678	44251962	11p12-p11	11p11.2	608210	EXT2, SSMS	Exostosin glycosyltransferase 2	EXT2	2132	ENSG00000151348		Seizures, scoliosis, and macrocephaly syndrome, 616682 (3), Autosomal recessive; Exostoses, multiple, type 2, 133701 (3), Autosomal dominant	Ext2 (MGI:108050)
chr11	44260440	44310139	11p11.2	11p11.2	605420	ALX4, PFM2, FPP, FND2, CRS5	Aristaless-like 4, mouse, homolog of	ALX4	60529	ENSG00000052850		Parietal foramina 2, 609597 (3), Autosomal dominant; {Craniosynostosis 5, susceptibility to}, 615529 (3), Autosomal dominant; Frontonasal dysplasia 2, 613451 (3), Autosomal recessive	Alx4 (MGI:108359)
chr11	44564409	44620358	11p11.2	11p11.2	600623	CD82, SAR2, KAI1, ST6	CD82 antigen	CD82	3732	ENSG00000085117			Cd82 (MGI:104651)
chr11	44726310	44932423	11p11.2	11p11.2	619399	TSPAN18	Tetraspanin 18	TSPAN18	90139	ENSG00000157570			Tspan18 (MGI:1917186)
chr11	44932348	44951306	11p11.2	11p11.2	617867	TP53I11, PIG11	Tumor protein p53-inducible protein 11	TP53I11	9537	ENSG00000175274			Trp53i11 (MGI:2670995)
chr11	45094159	45235109	11p11.2	11p11.2	616347	PRDM11, PFM8	PR domain-containing protein 11	PRDM11	56981	ENSG00000019485			Prdm11 (MGI:2685553)
chr11	45240302	45286341	Chr.11	11p11.2	607716	SYT13, KIAA1427	Synaptotagmin 13	SYT13	57586	ENSG00000019505			Syt13 (MGI:1933945)
chr11	45647689	45665622	11p11.2-p11.1	11p11.2	603797	CHST1, KSGAL6ST	Carbohydrate sulfotransferase-1	CHST1	8534	ENSG00000175264			Chst1 (MGI:1924219)
chr11	45804079	45813016	11p11.2	11p11.2	605881	SLC35C1, FUCT1, CDG2C	Solute carrier family 35, member C1 (GDP-Fucose transporter 1)	SLC35C1	55343	ENSG00000181830		Congenital disorder of glycosylation, type IIc, 266265 (3), Autosomal recessive	Slc35c1 (MGI:2443301)
chr11	45847118	45883244	Chr.11	11p11.2	603732	CRY2	Cryptochrome 2	CRY2	1408	ENSG00000121671			Cry2 (MGI:1270859)
chr11	45885651	45906465	11p12-p11.2	11p11.2	604641	MAPK8IP1, IB1	Mitogen-activated protein kinase 8-interacting protein 1	MAPK8IP1	9479	ENSG00000121653		{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant	Mapk8ip1 (MGI:1309464)
chr11	45909663	45918822	11p12-p11.2	11p11.2	603360	PEX16, PBD8A, PBD8B	Peroxisome biogenesis factor 16	PEX16	9409	ENSG00000121680		Peroxisome biogenesis disorder 8B, 614877 (3), Autosomal recessive; Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3), Autosomal recessive	Pex16 (MGI:1338829)
chr11	45921621	45929096	11p11.2	11p11.2	609709	GYLTL1B, LARGE2	Glycosyltransferase-like 1B	LARGE2	120071	ENSG00000165905			Large2 (MGI:2443769)
chr11	45929319	46121454	11p11.2	11p11.2	608325	PHF21A, BHC80, KIAA1696, IDDBCS	PHD finger protein 21A	PHF21A	51317	ENSG00000135365		Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725 (3), Autosomal dominant	Phf21a (MGI:2384756)
chr11	46277662	46321409	11p11.2	11p11.2	616215	CREB3L1, OASIS, OI16	cAMP response element-binding protein 3-like 1	CREB3L1	90993	ENSG00000157613		Osteogenesis imperfecta, type XVI, 616229 (3), Autosomal recessive	Creb3l1 (MGI:1347062)
chr11	46332926	46380554	11p11.2	11p11.2	601441	DGKZ	Diacylglycerol kinase, zeta, 104kD	DGKZ	8525	ENSG00000149091			Dgkz (MGI:1278339)
chr11	46380784	46383837	11p11.2	11p11.2	162096	MDK, NEGF2	Midkine (neurite growth-promoting factor 2)	MDK	4192	ENSG00000110492			Mdk (MGI:96949)
chr11	46383789	46391776	11p12-p11.2	11p11.2	118495	CHRM4	Cholinergic receptor, muscarinic, 4	CHRM4	1132	ENSG00000180720			Chrm4 (MGI:88399)
chr11	46396412	46594023	11p11.2	11p11.2	611359	AMBRA1, KIAA1736	Activating molecule in beclin 1-regulated autophagy	AMBRA1	55626	ENSG00000110497			Ambra1 (MGI:2443564)
chr11	46602861	46617895	11p11.2	11p11.2	615086	HARBI1	Harbinger transposase-derived gene 1	HARBI1	283254	ENSG00000180423			Harbi1 (MGI:2443194)
chr11	46617553	46674518	11p11.2	11p11.2	615088	ATG13, KIAA0652, PARATARG8	Autophagy related 13	ATG13	9776	ENSG00000175224			Atg13 (MGI:1196429)
chr11	46677080	46700619	11p12-q12	11p11.2	602732	ARHGAP1, RHOGAP1, CDC42GAP	RHO GTPase-activating protein 1	ARHGAP1	392	ENSG00000175220			Arhgap1 (MGI:2445003)
chr11	46701031	46705912	11p11.2	11p11.2	616454	ZNF408, EVR6, RP72	Zinc finger protein 408	ZNF408	79797	ENSG00000175213	mutation identified in 1 EVR6 family	Retinitis pigmentosa 72, 616469 (3), Autosomal recessive; ?Exudative vitreoretinopathy 6, 616468 (3), Autosomal dominant	Zfp408 (MGI:2685857)
chr11	46719213	46739506	11p11-q12	11p11.2	176930	F2, THPH1, RPRGL2	Coagulation factor II (thrombin)	F2	2147	ENSG00000180210		Hypoprothrombinemia, 613679 (3), Autosomal recessive; {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3), Autosomal dominant; Dysprothrombinemia, 613679 (3), Autosomal recessive; Thrombophilia 1 due to thrombin defect, 188050 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial	F2 (MGI:88380)
chr11	46743048	46846280	11p11.2	11p11.2	611142	CKAP5, CHTOG, MSPS, KIAA0097	Cytoskeleton-associated protein 5	CKAP5	9793	ENSG00000175216			Ckap5 (MGI:1923036)
chr11	46856717	46918550	11p12-p11.2	11p11.2	604270	LRP4, MEGF7, CLSS, SOST2, CMS17	Low density lipoprotein receptor-related protein 4	LRP4	4038	ENSG00000134569	mutation identified in 1 CMS17 family	?Myasthenic syndrome, congenital, 17, 616304 (3), Autosomal recessive; Sclerosteosis 2, 614305 (3), Autosomal recessive, Autosomal dominant; Cenani-Lenz syndactyly syndrome, 212780 (3), Autosomal recessive	Lrp4 (MGI:2442252)
chr11	46936689	47164385	11p11.2	11p11.2	620479	CSTPP1, C11orf49	Centriolar satellite-associated tubulin polyglutamylase complex regulator 1	CSTPP1	79096	ENSG00000149179			Cstpp1 (MGI:1915079)
chr11	47164301	47176879	11p11.2-p11.12	11p11.2	606908	ARFGAP2, ZNF289	ADP-ribosylation factor GTPase-activating protein 2	ARFGAP2	84364	ENSG00000149182			Arfgap2 (MGI:1924288)
chr11	47177522	47186434	11p11	11p11.2	606513	PACSIN3	Protein kinase C and casein kinase substrate in neurons 3	PACSIN3	29763	ENSG00000165912			Pacsin3 (MGI:1891410)
chr11	47214454	47239217	11p12-p11	11p11.2	600811	DDB2	Damage-specific DNA binding protein 2, 48kD	DDB2	1643	ENSG00000134574		Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3), Autosomal recessive	Ddb2 (MGI:1355314)
chr11	47239302	47248814	11p11.2	11p11.2	171650	ACP2	Acid phosphatase 2, lysosomal	ACP2	53	ENSG00000134575		?Lysosomal acid phosphatase deficiency, 200950 (1), Autosomal recessive	Acp2 (MGI:87882)
chr11	47248300	47269033	11p11.2	11p11.2	602423	NR1H3, LXRA	Nuclear receptor subfamily 1, group H, member 3	NR1H3	10062	ENSG00000025434			Nr1h3 (MGI:1352462)
chr11	47269188	47330031	11p11.2	11p11.2	603584	MADD, DENN, NEDDISH, DEEAH	MAP kinase-activating death domain (differentially expressed in normal and neoplastic cells)	MADD	8567	ENSG00000110514		Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005 (3), Autosomal recessive; DEEAH syndrome, 619004 (3), Autosomal recessive	Madd (MGI:2444672)
chr11	47331406	47352702	11p11.2	11p11.2	600958	MYBPC3, CMH4, CMD1MM, LVNC10	Myosin-binding protein C, cardiac	MYBPC3	4607	ENSG00000134571		Cardiomyopathy, hypertrophic, 4, 115197 (3), Autosomal recessive, Autosomal dominant; Cardiomyopathy, dilated, 1MM, 615396 (3), Autosomal dominant; Left ventricular noncompaction 10, 615396 (3), Autosomal dominant	Mybpc3 (MGI:102844)
chr11	47354860	47378547	11p11.2	11p11.2	165170	SPI1, SFPI1, AGM10	SPI1 protooncogene	SPI1	6688	ENSG00000066336		Agammaglobulinemia 10, autosomal dominant, 619707 (3), Autosomal dominant	Spi1 (MGI:98282)
chr11	47407276	47416500	11p11.2	11p11.2	608735	SLC39A13, ZIP13, EDSSPD3	Solute carrier family 39 (zinc transporter), member 13	SLC39A13	91252	ENSG00000165915		Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3), Autosomal recessive	Slc39a13 (MGI:1915677)
chr11	47418775	47426439	11p13-p12	11p11.2	186852	PSMC3, TBP1, DCIDP	Proteasome (prosome, macropain) 26S subunit, ATPase, 3	PSMC3	5702	ENSG00000165916	mutation identified in 1 DCIDP family	?Deafness, cataract, impaired intellectual development, and polyneuropathy, 619354 (3), Autosomal recessive	Psmc3 (MGI:1098754)
chr11	47437764	47449136	11p11.2-p11.1	11p11.2	601592	RAPSN, CMS1D, CMS11, FADS2	Receptor-associated protein of the synapse, 43kD	RAPSN	5913	ENSG00000165917		Fetal akinesia deformation sequence 2, 618388 (3), Autosomal recessive; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3), Autosomal recessive	Rapsn (MGI:99422)
chr11	47465937	47565539	11p11	11p11.2	601074	CELF1, CUGBP1, NAB50, BRUNOL2, CUGBP	CUGbp and ELAV-like family, member 1	CELF1	10658	ENSG00000149187			Celf1 (MGI:1342295)
chr11	47565599	47573461	11p11.2	11p11.2	609538	PTPMT1, PLIP	Protein-tyrosine phosphatase, mitochondrial, 1	PTPMT1	114971	ENSG00000110536			Ptpmt1 (MGI:1913711)
chr11	47572197	47578970	11p11.2	11p11.2	617645	KBTBD4, HSPC252, BKLHD4	Kelch repeat- and BTB/POZ domain-containing protein 4	KBTBD4	55709	ENSG00000123444			Kbtbd4 (MGI:1914386)
chr11	47579074	47584562	11p11.11	11p11.2	603846	NDUFS3, MC1DN8	NADH-ubiquinone oxidoreductase core subunit S3	NDUFS3	4722	ENSG00000213619		Mitochondrial complex I deficiency, nuclear type 8, 618230 (3), Autosomal recessive	Ndufs3 (MGI:1915599)
chr11	47589667	47595304	11p11.2	11p11.2	614911	C1QTNF4, CTRP4	C1q- and tumor necrosis factor-related protein 4	C1QTNF4	114900	ENSG00000172247			C1qtnf4 (MGI:1914695)
chr11	47604317	47642559	11q12.1	11p11.2	613221	MTCH2	Mitochondrial carrier homolog 2	MTCH2	23788	ENSG00000109919			Mtch2 (MGI:1929260)
chr11	47659591	47715369	11p11.2	11p11.2	617345	AGBL2, CCP2	ATP/GTP-binding protein-like 2	AGBL2	79841	ENSG00000165923			Agbl2 (MGI:2443254)
chr11	47716494	47767341	11p11.2	11p11.2	615265	FNBP4, FBP30, KIAA1014	Formin-binding protein 4	FNBP4	23360	ENSG00000109920			Fnbp4 (MGI:1860513)
chr11	47778118	47848544	11p11.2	11p11.2	607614	NUP160, KIAA0197, NPHS19	Nucleoporin, 160kD	NUP160	23279	ENSG00000030066	mutation identified in 1 NPHS19 family	?Nephrotic syndrome, type 19, 618178 (3), Autosomal recessive	Nup160 (MGI:1926227)
chr11	47980559	48170839	11p11.2	11p11.2	600925	PTPRJ, DEP1, THC10	Protein tyrosine phosphatase, receptor type, J polypeptide	PTPRJ	5795	ENSG00000149177		Colon cancer, somatic, 114500 (3); Thrombocytopenia 10, 620484 (3), Autosomal recessive	Ptprj (MGI:104574)
chr11	49145092	49208602	11p11.2	11p11.12	600934	FOLH1, FOLH, PSM, PSMA	Folate hydrolase 1 (prostate-specific membrane antigen)	FOLH1	2346	ENSG00000086205	?pseudogene on 11q14		Folh1 (MGI:1858193)
chr11	54603069	54603998	11p11.12	11q11	614273	OR4C46	Olfactory receptor, family 4, subfamily C, member 46	OR4C46	119749	ENSG00000185926			Or4c10,Or4c10b (MGI:3031091,MGI:3031092)
chr11	55800001	77400000	11q12.1-q13.5		135610	FNL2	Fibronectin-like-2						
chr11	55800001	66100000	11q12-q13.1		612795	PURAQTL1	Polyunsaturated fatty acids plasma level QTL1		100302559		associated with rs174537	[Polyunsaturated fatty acids plasma level QTL1], 612795 (2)	
chr11	55800001	63600000	11q12		608687	SCA20, DUP11q12, C11DUPq12	Spinocerebellar ataxia 20 (chromosome 11q12 duplication syndrome, 260kb)				contiguous gene duplication syndrome	Spinocerebellar ataxia 20, 608687 (4), Autosomal dominant	
chr11	55935456	55936400	11q12.1	11q12.1	608496	OR5I1, OLF1	Olfactory receptor, family 5, subfamily I, member 1	OR5I1	10798	ENSG00000167825			Or5i1 (MGI:1313139)
chr11	55993681	55994625	11q12.1	11q12.1	608492	OR5F1	Olfactory receptor, family 5, subfamily F, member 1	OR5F1	338674	ENSG00000149133			
chr11	57181953	57191717	11q12.1	11q12.1	615213	LRRC55	Leucine-rich repeat-containing protein 55	LRRC55	219527	ENSG00000183908			Lrrc55 (MGI:2685197)
chr11	57233591	57237250	11q12	11q12.1	600052	APLNR, AGTRL1, APJ	Apelin receptor	APLNR	187	ENSG00000134817			Aplnr (MGI:1346086)
chr11	57299642	57324952	11q12	11q12.1	607104	TNKS1BP1, TAB182, KIAA1741	Tankyrase 1-binding protein 1, 182kD	TNKS1BP1	85456	ENSG00000149115			Tnks1bp1 (MGI:2446193)
chr11	57325988	57335892	11q12	11q12.1	604328	SSRP1, FACT	Structure-specific recognition protein 1	SSRP1	6749	ENSG00000149136			Ssrp1 (MGI:107912)
chr11	57335950	57372396	11q12	11q12.1	600843	P2RX3, P2X3	Purinergic receptor P2X, ligand-gated ion channel, 3	P2RX3	5024	ENSG00000109991			P2rx3 (MGI:1097160)
chr11	57376769	57381150	11cen-q12	11q12.1	606814	PRG3, MBPH	Proteoglycan 3	PRG3	10394	ENSG00000156575			Prg3 (MGI:1858200)
chr11	57386780	57390650	11cen-q12	11q12.1	605601	PRG2, MBP	Proteoglycan 2	PRG2	5553	ENSG00000186652			Prg2 (MGI:103294)
chr11	57406954	57427580	11q12.1	11q12.1	618034	SLC43A3, EEG1, ENBT1	Solute carrier family 43, member 3	SLC43A3	29015	ENSG00000134802			Slc43a3 (MGI:1931054)
chr11	57460528	57477534	11q12.1	11q12.1	610462	RTN4RL2, NGRH1, NGR2	Reticulon 4 receptor-like 2	RTN4RL2	349667	ENSG00000186907			Rtn4rl2 (MGI:2669796)
chr11	57484534	57515702	11p11.2-p11.1	11q12.1	603733	SLC43A1, LAT3, POV1	Solute carrier family 43 (L-type amino acid transporter), member 1	SLC43A1	8501	ENSG00000149150			Slc43a1 (MGI:1931352)
chr11	57528464	57530754	11q12.1-q12.3	11q12.1	602251	TIMM10, TIM10A, TIM10	Translocase of inner mitochondrial membrane 10	TIMM10	26519	ENSG00000134809			Timm10 (MGI:1353429)
chr11	57537595	57550272	11q12.1	11q12.1	613664	SMTNL1, CHASM	Smoothelin-like 1	SMTNL1	219537	ENSG00000214872			Smtnl1 (MGI:1915928)
chr11	57551662	57567935	11q12	11q12.1	603890	UBE2L6, UBCH8	Ubiquitin-conjugating enzyme E2 L6	UBE2L6	9246	ENSG00000156587			Ube2l6 (MGI:1914500)
chr11	57597685	57614848	11q12.1	11q12.1	606860	SERPING1, C1NH, HAE1, HAE2	Serpin family G member 1 (complement component-1 inhibitor)	SERPING1	710	ENSG00000149131		Angioedema, hereditary, 1 and 2, 106100 (3), Autosomal recessive, Autosomal dominant; Complement component 4, partial deficiency of, 120790 (3), Autosomal dominant	Serping1 (MGI:894696)
chr11	57641198	57641286	11q12	11q12.1	610175	MIR130A, MIRN130A	Micro RNA 130A	MIR130A	406919	ENSG00000208009			Mir130a (MGI:2676816)
chr11	57645087	57649912	11q12.1	11q12.1	609725	YPEL4	Yippee-like 4	YPEL4	219539	ENSG00000166793			Ypel4 (MGI:3605071)
chr11	57657762	57661865	11q12.1	11q12.1	608757	CLP1, HEAB, PCH10	Cleavage and polyadenylation factor I subunit 1, yeast, homolog of	CLP1	10978	ENSG00000172409		Pontocerebellar hypoplasia, type 10, 615803 (3), Autosomal recessive	Clp1 (MGI:2138968)
chr11	57668114	57701182	11q12.1	11q12.1	614586	ZDHHC5, DHHC5, ZNF375, KIAA1748	Zinc finger DHHC domain-containing protein 5	ZDHHC5	25921	ENSG00000156599			Zdhhc5 (MGI:1923573)
chr11	57703709	57712215	11q12.1	11q12.1	612385	MED19	Mediator complex subunit 19	MED19	219541	ENSG00000156603			Med19 (MGI:1914234)
chr11	57712593	57740973	11cen-q22.3	11q12.1	616715	TMX2, NEDMCMS	Thioredoxin-related transmembrane protein 2	TMX2	51075	ENSG00000213593		Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, 618730 (3), Autosomal recessive	Tmx2 (MGI:1914208)
chr11	57741491	57743550	11q12.1	11q12.1	607914	SELENOH, SELH	Selenoprotein H	SELENOH	280636	ENSG00000211450			Selenoh (MGI:1919907)
chr11	57761802	57819540	11q11	11q12.1	601045	CTNND1, CTNND, BCDS2	Catenin (cadherin-associated protein), delta 1	CTNND1	1500	ENSG00000198561		Blepharocheilodontic syndrome 2, 617681 (3), Autosomal dominant	Ctnnd1 (MGI:105100)
chr11	58116742	58125530	11q12.1	11q12.1	620828	OR9I1	Olfactory receptor, family 9, subfamily I, member 1	OR9I1	219954	ENSG00000172377			Or9i1,Or9i14,Or9i1b (MGI:3031333,MGI:3031336,MGI:3031339)
chr11	58526871	58578891	11q12.1	11q12.1	605390	LPXN	Leupaxin	LPXN	9404	ENSG00000110031			Lpxn (MGI:2147677)
chr11	58579063	58621550	11q12.1	11q12.1	619289	ZFP91, DSM8	Zinc finger protein 91, atypical E3 ubiquitin ligase	ZFP91	80829	ENSG00000186660			Zfp91 (MGI:104854)
chr11	58622665	58625733	11q12.2	11q12.1	118945	CNTF	Ciliary neurotrophic factor	CNTF	1270	ENSG00000242689			Cntf (MGI:88439)
chr11	58708757	58731943	11q12.1	11q12.1	607424	GLYAT, ACGNAT, CAT	Glycine-N-acyltransferase	GLYAT	10249	ENSG00000149124			Glyat (MGI:2147502)
chr11	58834065	58909828	11q12.1	11q12.1	614762	GLYATL2	Glycine N-acyltransferase-like 2	GLYATL2	219970	ENSG00000156689			
chr11	58905481	58956406	11q12.1	11q12.1	614761	GLYATL1	Glycine-N-acyltransferase-like 1	GLYATL1	92292	ENSG00000166840			
chr11	59107237	59127412	11q12.1	11q12.1	615584	FAM111B, POIKTMP	Family with sequence similarity 111, member B	FAM111B	374393	ENSG00000189057		Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3), Autosomal dominant	
chr11	59142856	59155039	11q12.1	11q12.1	615292	FAM111A, KIAA1895, KCS2, GCLEB	Family with sequence similarity 111, member A	FAM111A	63901	ENSG00000166801		Kenny-Caffey syndrome, type 2, 127000 (3), Autosomal dominant; Gracile bone dysplasia, 602361 (3), Autosomal dominant	Fam111a (MGI:1915508)
chr11	59171430	59208588	11q12.1	11q12.1	616110	DTX4, RNF155, KIAA0937	Deltex E3 ubiquitin ligase 4	DTX4	23220	ENSG00000110042			Dtx4 (MGI:2672905)
chr11	59208510	59212927	11q12.1	11q12.1	610390	MPEG1, MPG1, IMD77	Macrophage expressed gene 1	MPEG1	219972	ENSG00000197629		Immunodeficiency 77, 619223 (3), Autosomal dominant	Mpeg1,Pfpl (MGI:1333743,MGI:1860266)
chr11	59358895	59371714	11q12.1	11q12.1	615702	OR5AN1	Olfactory receptor, family 5, subfamily AN, member 1	OR5AN1	390195	ENSG00000176495			Or5an1,Or5an10,Or5an11,Or5an1b,Or5an1c,Or5an9 (MGI:3030069,MGI:3030096,MGI:3031265,MGI:3031268,MGI:3031270,MGI:3031271)
chr11	59574398	59615774	11q12.1	11q12.1	167040	OSBP	Oxysterol-binding protein	OSBP	5007	ENSG00000110048			Osbp (MGI:97447)
chr11	59636716	59669037	11q12.1	11q12.1	614660	PATL1, PAT1B	PAT1 homolog 1, processing body mRNA decay factor	PATL1	219988	ENSG00000166889			Patl1 (MGI:2147679)
chr11	59754188	59805878	11q12.1	11q12.1	600876	STX3, STX3A, DIAR12, MVID2, RDMVID	Syntaxin 3	STX3	6809	ENSG00000166900		Retinal dystrophy and microvillus inclusion disease, 619446 (3), Autosomal recessive; Diarrhea 12, with microvillus atrophy, 619445 (3), Autosomal recessive	Stx3 (MGI:103077)
chr11	59806140	59810778	11q12-q13.1	11q12.1	611829	MRPL16	Mitochondrial ribosomal protein L16	MRPL16	54948	ENSG00000166902			Mrpl16 (MGI:2137219)
chr11	59829273	59845499	11q13	11q12.1	609342	CBLIF, GIF, IF	Cobalamin-binding intrinsic factor (gastric intrinsic factor)	CBLIF	2694	ENSG00000134812		Intrinsic factor deficiency, 261000 (3), Autosomal recessive	Cblif (MGI:1202394)
chr11	59852808	59866487	11q11-q12	11q12.1	189905	TCN1, TC1	Transcobalamin I	TCN1	6947	ENSG00000134827			
chr11	59878782	59896483	11q12.1	11q12.1	621112	OOSP3	Oocyte-secreted protein 3	OOSP3	112577461	ENSG00000285231			
chr11	59938432	59957480	11q12.1	11q12.1	621111	OOSP1	Oocyte-secreted protein 1	OOSP1	255649	ENSG00000284873			
chr11	60040409	60048044	11q12.1	11q12.1	620263	OOSP2	Oocyte-secreted protein 2	OOSP2	219990	ENSG00000149507			Oosp2 (MGI:2684945)
chr11	60056665	60071115	11q12-q13	11q12.1	606498	MS4A3, HTM4, CD20L	Membrane-spanning 4-domains, subfamily A, member 3	MS4A3	932	ENSG00000149516			Ms4a3 (MGI:2158468)
chr11	60088259	60098467	11q13	11q12.1	147138	MS4A2, FCER1B	Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for, beta polypeptide)	MS4A2	2206	ENSG00000149534			Ms4a2 (MGI:95495)
chr11	60171607	60184666	11q12-q13	11q12.2	606548	MS4A6A, MS4A6	Membrane-spanning 4-domains, subfamily A, member 6A	MS4A6A	64231	ENSG00000110077			Ms4a6b,Ms4a6c,Ms4a6d (MGI:1916024,MGI:1917024,MGI:2385644)
chr11	60200270	60243137	11q12-q13.1	11q12.2	608401	MS4A4E	Membrane-spanning 4-domains, subfamily A, member 4E	MS4A4E	643680	ENSG00000214787			Ms4a4a (MGI:3643932)
chr11	60280666	60308970	11q12-q13	11q12.2	606547	MS4A4A, MS4A4	Membrane-spanning 4-domains, subfamily A, member 4A	MS4A4A	51338	ENSG00000110079			Ms4a4a (MGI:3643932)
chr11	60327255	60349072	11q12-q13.1	11q12.2	608402	MS4A6E	Membrane-spanning 4-domains, subfamily A, member 6E	MS4A6E	245802	ENSG00000166926			Ms4a6b,Ms4a6c,Ms4a6d (MGI:1916024,MGI:1917024,MGI:2385644)
chr11	60378532	60395948	11q12-q13	11q12.2	606502	MS4A7, CFFM4	Membrane-spanning 4-domains, subfamily A, member 7	MS4A7	58475	ENSG00000166927			Ms4a7 (MGI:1918846)
chr11	60429572	60447792	11q12-q13	11q12.2	606499	MS4A5, TETM4, CD20L2	Membrane-spanning 4-domains, subfamily A, member 5	MS4A5	64232	ENSG00000166930			Ms4a5 (MGI:2670985)
chr11	60455847	60470752	11q13	11q12.2	112210	MS4A1, CD20, CVID5	Membrane-spanning 4-domains, subfamily A, member 1	MS4A1	931	ENSG00000156738	mutation identified in 1 CVID5 patient	?Immunodeficiency, common variable, 5, 613495 (3), Autosomal recessive	Ms4a1 (MGI:88321)
chr11	60492778	60507430	11q12-q13	11q12.2	606550	MS4A12	Membrane-spanning 4-domains, subfamily A, member 12	MS4A12	54860	ENSG00000071203			Ms4a12 (MGI:2685812)
chr11	60699612	60715807	11q12-q13	11q12.2	606549	MS4A8B	Membrane-spanning 4-domains, subfamily A, member 8B	MS4A8	83661	ENSG00000166959			Ms4a8a (MGI:1927657)
chr11	60785333	60801305	11q12-q13.1	11q12.2	608403	MS4A10	Membrane-spanning 4-domains, subfamily A, member 10	MS4A10	341116	ENSG00000172689			Ms4a10 (MGI:1917076)
chr11	60842113	60851081	11q12	11q12.2	611293	CCDC86, CYCLON	Coiled-coil domain-containing protein 86	CCDC86	79080	ENSG00000110104			Ccdc86 (MGI:1277220)
chr11	60850933	60855950	11q12.2	11q12.2	604837	PTGDR2, GPR44	Prostaglandin D2 receptor 2	PTGDR2	11251	ENSG00000183134			Ptgdr2 (MGI:1330275)
chr11	60867542	60875687	11q12.2	11q12.2	195000	ZP1, OZEMA1	Zona pellucida glycoprotein 1	ZP1	22917	ENSG00000149506		Oocyte/zygote/embryo maturation arrest 1, 615774 (3), Autosomal recessive	Zp1 (MGI:103073)
chr11	60890547	60906585	11q12.2	11q12.2	608330	PRPF19, PRP19, PSO4, NMP200	Pre-mRNA processing factor 19	PRPF19	27339	ENSG00000110107			Prpf19 (MGI:106247)
chr11	60914158	60923443	11q12.2	11q12.2	619168	TMEM109, MG23	Transmembrane protein 109	TMEM109	79073	ENSG00000110108			Tmem109 (MGI:1915789)
chr11	60924460	60937159	11q12.2	11q12.2	617363	TMEM132A, KIAA1583	Transmembrane protein 132A	TMEM132A	54972	ENSG00000006118			Tmem132a (MGI:2147810)
chr11	60937084	60952176	11q12	11q12.2	610408	SLC15A3, PHT2	Solute carrier family 15 (oligopeptide transporter), member 3	SLC15A3	51296	ENSG00000110446			Slc15a3 (MGI:1929691)
chr11	60971680	61020377	Chr.11	11q12.2	186720	CD6, TP120	CD6 antigen	CD6	923	ENSG00000013725			Cd6 (MGI:103566)
chr11	61093963	61127852	11q13	11q12.2	153340	CD5, LEU1	CD5 antigen (p56-62)	CD5	921	ENSG00000110448			Cd5 (MGI:88340)
chr11	61130257	61161426	11q12.2	11q12.2	610038	VPS37C	VPS37C subunit of ESCRT-I	VPS37C	55048	ENSG00000167987			Vps37c (MGI:2147661)
chr11	61222347	61231694	11q13	11q12.2	169720	PGA4	Pepsinogen A4	PGA4	643847	ENSG00000229183			Pga5 (MGI:1915935)
chr11	61241175	61251444	11q13	11q12.2	169730	PGA5	Pepsinogen A5	PGA5	5222	ENSG00000256713	pter-5'HRAS--5'INS--cen		Pga5 (MGI:1915935)
chr11	61258286	61295316	11q11	11q12.2	611115	VWC1, URG11	von Willebrand factor C and EGF domain-containing protein	VWCE	220001	ENSG00000167992			Vwce (MGI:1919018)
chr11	61299451	61333105	11q12.2	11q12.2	600045	DDB1, WHIKERS	Damage-specific DNA binding protein 1, 127kD	DDB1	1642	ENSG00000167986		White-Kernohan syndrome, 619426 (3), Autosomal dominant	Ddb1 (MGI:1202384)
chr11	61333228	61353426	11q12.2	11q12.2	615844	TKFC, DAK, TKFCD	Triokinase and FMN cyclase	TKFC	26007	ENSG00000149476		Triokinase and FMN cyclase deficiency syndrome, 618805 (3), Autosomal recessive	Tkfc (MGI:2385084)
chr11	61348745	61362283	11q12.2	11q12.2	618757	CYB561A3, LCYTB, CYBASC3	Cytochrome b561 family, member A3	CYB561A3	220002	ENSG00000162144			Cyb561a3 (MGI:2686925)
chr11	61362374	61376870	11q12.2	11q12.2	614459	TMEM138, JBTS16	Transmembrane protein 138	TMEM138	51524	ENSG00000149483		Joubert syndrome 16, 614465 (3), Autosomal recessive	Tmem138 (MGI:1920232)
chr11	61392587	61398846	11q12.2	11q12.2	613277	TMEM216, JBTS2, CORS2, MKS2, RP98	Transmembrane protein 216	TMEM216	51259	ENSG00000187049		Joubert syndrome 2, 608091 (3), Autosomal recessive; Retinitis pigmentosa 98, 620996 (3), Autosomal recessive; Meckel syndrome 2, 603194 (3), Autosomal recessive	Tmem216 (MGI:1920020)
chr11	61430124	61446733	11q13.1	11q12.2	613019	SDHAF2, SDH5, PPGL2	Succinate dehydrogenase complex assembly factor 2	SDHAF2	54949	ENSG00000167985		Pheochromocytoma/paraganglioma syndrome 2, 601650 (3), Autosomal dominant	Sdhaf2 (MGI:1913322)
chr11	61481120	61490928	11q12.2	11q12.2	619047	PPP1R32, IIIG9, C11orf66	Protein phosphatase 1, regulatory subunit 32	SAXO4	220004	ENSG00000162148			Saxo4 (MGI:1915002)
chr11	61513714	61588387	11q13	11q12.2	604146	SYT7	Synaptotagmin 7	SYT7	9066	ENSG00000011347			Syt7 (MGI:1859545)
chr11	61680391	61747001	11q12.2	11q12.2	614015	DAGLA, KIAA0659, NOC2	Diacylglycerol lipase, alpha	DAGLA	747	ENSG00000134780		Neuroocular syndrome 2, paroxysmal type, 168885 (3), Autosomal dominant	Dagla (MGI:2677061)
chr11	61752636	61788518	11q12.2	11q12.2	608329	MYRF, C11orf9, KIAA0954, MMERV, CUGS	Myelin regulatory factor	MYRF	745	ENSG00000124920		Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3), Autosomal dominant; Cardiac-urogenital syndrome, 618280 (3), Autosomal dominant	Myrf (MGI:2684944)
chr11	61788949	61792599	11q12	11q12.2	617615	TMEM258, C11orf10	Transmembrane protein 258	TMEM258	746	ENSG00000134825			Tmem258 (MGI:1916288)
chr11	61792911	61797238	11q12	11q12.2	600393	FEN1	Flap structure-specific endonuclease 1	FEN1	2237	ENSG00000168496			Fen1 (MGI:102779)
chr11	61799627	61817003	11q12-q13.1	11q12.2	606148	FADS1	Fatty acid desaturase 1	FADS1	3992	ENSG00000149485			Fads1 (MGI:1923517)
chr11	61816203	61867354	11q12-q13.1	11q12.2	606149	FADS2	Fatty acid desaturase 2	FADS2	9415	ENSG00000134824			Fads2 (MGI:1930079)
chr11	61873526	61892224	11q12-q13.1	11q12.2	606150	FADS3	Fatty acid desaturase 3	FADS3	3995	ENSG00000221968			Fads3 (MGI:1928740)
chr11	61897301	61946323	11q12.2-q12.3	11q12.2-q12.3	621025	RAB3IL1, GRAB	RAB3A-interacting protein-like 1	RAB3IL1	5866	ENSG00000167994			Rab3il1 (MGI:1922010)
chr11	61949821	61965515	11q13	11q12.3	607854	BEST1, VMD2, ARB, RP50	Bestrophin 1	BEST1	7439	ENSG00000167995	mutation identified in 1 MRCS family	Macular dystrophy, vitelliform, 2, 153700 (3), Autosomal dominant; ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, 193220 (3), Autosomal dominant; Retinitis pigmentosa-50, 613194 (3); Retinitis pigmentosa, concentric, 613194 (3); Vitreoretinochoroidopathy, 193220 (3), Autosomal dominant; Bestrophinopathy, autosomal recessive, 611809 (3)	Best1 (MGI:1346332)
chr11	61964285	61967634	11q12-q13	11q12.3	134770	FTH1, FTHL6, HFE5, NBIA9	Ferritin, heavy polypeptide 1	FTH1	2495	ENSG00000167996	mutation identified in 1 HFE5 family	Neurodegeneration with brain iron accumulation 9, 620669 (3), Autosomal dominant; ?Hemochromatosis, type 5, 615517 (3), Autosomal dominant	Fth1 (MGI:95588)
chr11	62124011	62153169	11q12.3	11q12.3	604411	INCENP	Inner centromere protein	INCENP	3619	ENSG00000149503			Incenp (MGI:1313288)
chr11	62190216	62193539	11q12.3	11q12.3	615060	SCGB1D1, LPNA	Secretoglobin, family 1D, member 1	SCGB1D1	10648	ENSG00000168515	previously mapped to 15q12-q13		
chr11	62208673	62213943	11q12.3	11q12.3	604398	SCGB2A1, MGB2, LPNC	Secretoglobin, family 2A, member 1 (mammaglobin 2)	SCGB2A1	4246	ENSG00000124939			Scgb2a2 (MGI:3780828)
chr11	62242239	62244812	11q12.3	11q12.3	615061	SCGB1D2, LPNB	Secretoglobin, family 1D, member 2	SCGB1D2	10647	ENSG00000124935	previously mapped to 10q23		
chr11	62270158	62273160	11q12.3-q13.1	11q12.3	605562	MGB1, SCGB2A2	Mammaglobin 1 (secretoglobin, family 2A, member 2)	SCGB2A2	4250	ENSG00000110484			Scgb2a2 (MGI:3780828)
chr11	62296281	62299075	11q12.3	11q12.3	615062	SCGB1D4, IIS	Secretoglobin, family 1D, member 4	SCGB1D4	404552	ENSG00000197745			
chr11	62337448	62401431	11q12.3	11q12.3	609212	ASRGL1, ALP	Asparaginase-like protein 1	ASRGL1	80150	ENSG00000162174			Asrgl1 (MGI:1913764)
chr11	62419033	62423195	11q12.3-q13.1	11q12.3	192020	SCGB1A1, UGB, CC10, CCSP	Secretoglobin, family 1A, member 1 (uteroglobin)	SCGB1A1	7356	ENSG00000149021			Scgb1a1 (MGI:98919)
chr11	62433544	62546806	11q12-q13	11q12.3	103390	AHNAK	AHNAK nucleoprotein (desmoyokin)	AHNAK	79026	ENSG00000124942			Ahnak (MGI:1316648)
chr11	62559596	62573891	11q12.3	11q12.3	130593	EEF1G, EF1G	Eukaryotic translation elongation factor 1, gamma	EEF1G	1937	ENSG00000254772			Eef1g (MGI:1914410)
chr11	62575052	62591523	11q12.3	11q12.3	610641	TUT1, PAPD2	Terminal uridylyl transferase 1, U6 snRNA-specific	TUT1	64852	ENSG00000149016			Tut1 (MGI:1917294)
chr11	62593214	62601865	11q12-q13.1	11q12.3	603947	MTA2, MTA1L1	Metastasis-associated protein 2	MTA2	9219	ENSG00000149480			Mta2 (MGI:1346340)
chr11	62602218	62612775	11q12.3	11q12.3	618118	EML3, EMAP3, EMAP95	Echinoderm microtubule-associated protein-like 3	EML3	256364	ENSG00000149499			Eml3 (MGI:2387612)
chr11	62613257	62615116	11q13	11q12.3	180721	ROM1, ROSP1, RP7	Rod outer segment membrane protein-1	ROM1	6094	ENSG00000149489	digenic RP with RDS	Retinitis pigmentosa 7, digenic form, 608133 (3), Digenic dominant, Autosomal recessive, Autosomal dominant	Rom1 (MGI:97998)
chr11	62615296	62621986	11q12-q13	11q12.3	606374	B3GAT3, GLCATI, JDSCD	Beta-1,3-glucuronyltransferase 3	B3GAT3	26229	ENSG00000149541	pseudogene on chr.3	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3), Autosomal recessive	B3gat3 (MGI:1919977)
chr11	62624829	62646613	11q13-qter	11q12.3	104160	GANAB, PKD3	Neutral alpha-glucosidase AB	GANAB	23193	ENSG00000089597		Polycystic kidney disease 3, 600666 (3), Autosomal dominant	Ganab (MGI:1097667)
chr11	62646848	62653302	11q12.3	11q12.3	611349	INTS5, INT5, KIAA1698	Integrator complex subunit 5	INTS5	80789	ENSG00000185085			Ints5 (MGI:1923578)
chr11	62665312	62668108	11q12.3	11q12.3	617897	CSKMT, METTL12	Citrate synthase lysine methyltransferase	CSKMT	751071	ENSG00000214756			
chr11	62671673	62673686	11q12.3	11q12.3	616097	UQCC3, C11orf83, MC3DN9	Ubiquinol-cytochrome c reductase complex assembly factor 3	UQCC3	790955	ENSG00000204922	mutation identified in 1 MC3DN9 patient	?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3), Autosomal recessive	Uqcc3 (MGI:2147553)
chr11	62676500	62679073	11q12.3	11q12.3	616378	UBXN1, SAKS1	UBX domain protein 1	UBXN1	51035	ENSG00000162191			Ubxn1 (MGI:1289301)
chr11	62690262	62709537	11q13	11q12.3	606158	BSCL2, SPG17, PELD, HMND13	Seipin	BSCL2	26580	ENSG00000168000		Lipodystrophy, congenital generalized, type 2, 269700 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, autosomal dominant 13, 619112 (3), Autosomal dominant; Silver spastic paraplegia syndrome, 270685 (3), Autosomal dominant; Encephalopathy, progressive, with or without lipodystrophy, 615924 (3), Autosomal recessive	Bscl2 (MGI:1298392)
chr11	62706446	62709201	11q12.3	11q12.3	608941	GNG3	Guanine nucleotide-binding protein, gamma-3	GNG3	2785	ENSG00000162188			Gng3 (MGI:102704)
chr11	62761580	62766710	11q13.1	11q12.3	602013	POLR2G	Polymerase (RNA) II (DNA directed) polypeptide G	POLR2G	5436	ENSG00000168002			Polr2g (MGI:1914960)
chr11	62771120	62792006	11q12.3	11q12.3	620434	TMEM223	Transmembrane protein 223	TMEM223	79064	ENSG00000168569			Tmem223 (MGI:1914086)
chr11	62771396	62787342	11q12.3	11q12.3	602946	TAF6L, PAF65A	TAF6-like RNA polymerase II	TAF6L	10629	ENSG00000162227			Taf6l (MGI:2444957)
chr11	62792130	62805440	11q12-q13	11q12.3	602647	NXF1, TAP, MEX67	Nuclear RNA export factor 1	NXF1	10482	ENSG00000162231			Nxf1 (MGI:1858330)
chr11	62806860	62832051	11q12.3	11q12.3	603189	STX5, STX5A, CDG2AA	Syntaxin 5	STX5	6811	ENSG00000162236	mutation identified in 1 CDG2AA family	?Congenital disorder of glycosylation, type IIaa, 620454 (3), Autosomal recessive	Stx5a (MGI:1928483)
chr11	62832905	62841809	11q12.3	11q12.3	617947	WDR74	WD repeat-containing protein 74	WDR74	54663	ENSG00000133316			Wdr74 (MGI:2147427)
chr11	62851978	62855885	11q13	11q12.3	603222	UHG, U22HG	U22 host gene	SNHG1	23642	ENSG00000255717			
chr11	62852910	62853035	11q13	11q12.3	603223	RNU22	RNA, U22 small nucleolar	SNORD22	9304	ENSG00000277194			
chr11	62853326	62853393	11q13	11q12.3	603230	SNORD31, RNU31	Small nucleolar RNA, C/D box 31	SNORD31	9298				
chr11	62853663	62853732	11q13	11q12.3	603229	RNU30	RNA, U30 small nucleolar	SNORD30	9299	ENSG00000277846			
chr11	62853904	62853968	11q13	11q12.3	603228	RNU29	RNA, U29 small nucleolar	SNORD29	9297				
chr11	62854621	62854695	11q13	11q12.3	603227	RNU28	RNA, U28 small nucleolar	SNORD28	9300	ENSG00000274544			
chr11	62855012	62855083	11q13	11q12.3	603226	RNU27	RNA, U27 small nucleolar	SNORD27	9301	ENSG00000275996			
chr11	62855292	62855366	11q13	11q12.3	603225	RNU26	RNA, U26 small nucleolar	SNORD26	9302	ENSG00000276788			
chr11	62855565	62855631	11q13	11q12.3	603224	RNU25	RNA, U25 small nucleolar	SNORD25	9303	ENSG00000275043			
chr11	62856109	62888860	11q13	11q12.3	158070	SLC3A2, MDU1, NACAE	Solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2	SLC3A2	6520	ENSG00000168003	prob. 11q13		Slc3a2 (MGI:96955)
chr11	62908679	62921878	11q13	11q12.3	118510	CHRM1	Cholinergic receptor, muscarinic, 1	CHRM1	1128	ENSG00000168539			Chrm1 (MGI:88396)
chr11	62976597	62984967	11q13.1-q13.2	11q12.3	607582	SLC22A6, OAT1, PAHT	Solute carrier family 22 (organic anion transporter), member 6	SLC22A6	9356	ENSG00000197901			Slc22a6 (MGI:892001)
chr11	62992824	63015841	Chr.11	11q12.3	607581	SLC22A8, OAT3	Solute carrier family 22 (organic anion transporter), member 8	SLC22A8	9376	ENSG00000149452			Slc22a8 (MGI:1336187)
chr11	63079940	63144221	11q12.3	11q12.3	611698	SLC22A24	Solute carrier family 22, member 24	SLC22A24	283238	ENSG00000197658			Slc22a19 (MGI:2442751)
chr11	63158437	63243599	11q12.3	11q12.3	610792	UST6	Organic anion transporter UST6	SLC22A25	387601	ENSG00000196600			Slc22a19,Slc22a26,Slc22a27,Slc22a28,Slc22a29,Slc22a30 (MGI:2385316,MGI:2442750,MGI:2442751,MGI:3042283,MGI:3605624,MGI:3645714)
chr11	63289903	63363144	11q12.3	11q12.3	607580	SLC22A10, OAT5	Solute carrier family 22 (organic anion/cation transporter), member 10	SLC22A10	387775	ENSG00000184999			Slc22a19,Slc22a27,Slc22a28,Slc22a29,Slc22a30 (MGI:2442750,MGI:2442751,MGI:3042283,MGI:3605624,MGI:3645714)
chr11	63369785	63410294	11q12.3	11q12.3	607579	SLC22A9, OAT4, UST3	Solute carrier family 22 (organic anion/cation transporter), member 9	SLC22A9	114571	ENSG00000149742			Slc22a19,Slc22a26,Slc22a27,Slc22a28,Slc22a29,Slc22a30 (MGI:2385316,MGI:2442750,MGI:2442751,MGI:3042283,MGI:3605624,MGI:3645714)
chr11	63461404	63491167	11q12.3	11q12.3	611474	PLAAT5, HRASLS5, RLP1, HRLP5	Phospholipase A and acyltransferase 5	PLAAT5	117245	ENSG00000168004			Plaat5 (MGI:1913977)
chr11	63506084	63516772	11q13	11q12.3	606096	LGALS12	Lectin, galactoside-binding, soluble, 12	LGALS12	85329	ENSG00000133317			Lgals12 (MGI:1929094)
chr11	63536808	63546458	11q12.3	11q12.3	605092	PLAAT4, RARRES3, TIG3	Phospholipase A and acyltransferase 4	PLAAT4	5920	ENSG00000133321			
chr11	63552770	63565070	11q12.3	11q12.3	613866	PLAAT2, HRASLS2	Phospholipase A and acyltransferase 2	PLAAT2	54979	ENSG00000133328			
chr11	63574462	63616927	11q12.3-q13.1	11q12.3-q13.1	613867	PLAAT3, PLA2G16, HRASLS3, HRSL3, HREV107, FPLD9	Phospholipase A and acyltransferase 3	PLAAT3	11145	ENSG00000176485		Lipodystrophy, familial partial, type 9, 620683 (3), Autosomal recessive	Plaat3 (MGI:2179715)
chr11	63600001	110600000	11q13-q22		133220	ESA4	Esterase-A4	ESA4	2090				
chr11	63600001	77400000	11q13		607088	HMNR3	Neuronopathy, distal hereditary motor, autosomal recessive 3		246751		no mutations found in IGHMBP2	Neuronopathy, distal hereditary motor, autosomal recessive 3, 607088 (2), Autosomal recessive	
chr11	63600001	77400000	11q13		611958	HPC14	Prostate cancer, hereditary, 14		100188867		associated with rs7931342	{Prostate cancer, hereditary, 14}, 611958 (2)	
chr11	63600001	77400000	11q13		600319	IDDM4	Insulin-dependent diabetes mellitus-4		3403			{Diabetes mellitus, insulin-dependent, 4}, 600319 (2)	
chr11	63600001	77400000	11q13		166750	OTDD, DEL11q13, C11DELq13	Otodental dysplasia (chromosome 11q13 deletion syndrome)				between rs9666584 and rs41408348	Otodental dysplasia chromosome deletion syndrome, 166750 (4), Autosomal dominant	
chr11	63600001	77400000	11q13		169710	PGA3	Pepsinogen A3	PGA3	643834	ENSG00000229859			
chr11	63600001	77400000	11q13		165110	SEA	Oncogene SEA (S13 avian erythroblastosis)	SEA	6395				
chr11	63600001	77400000	11q13		191181	ST3	Suppression of tumorigenicity-3 (tumor-suppressor gene, HELA cell type)		6762			Cervical carcinoma, 191181 (2)	
chr11	63600001	77400000	11q13		621062	eRNA-NPAS4	Long noncoding eRNA upstream of NPAS4						
chr11	63624087	63671974	11q13.1	11q13.1	609369	ATL3, HSN1F	Atlastin GTPase 3	ATL3	25923	ENSG00000184743		Neuropathy, hereditary sensory, type IF, 615632 (3), Autosomal dominant	Atl3 (MGI:1924270)
chr11	63681450	63759891	11q13	11q13.1	604249	RTN3, NSPL2	Reticulon 3	RTN3	10313	ENSG00000133318	pseudogene on chr.4		Rtn3 (MGI:1339970)
chr11	63759892	63768775	11q13	11q13.1	615699	ZFTA, C11orf95	Zinc finger translocation-associated protein	ZFTA	65998	ENSG00000188070			Zfta (MGI:1919667)
chr11	63839110	63911020	11q12-q13	11q13.1	600526	MARK2, EMK1	MAP/microtubule affinity-regulating kinase 2	MARK2	2011	ENSG00000072518			Mark2 (MGI:99638)
chr11	63911230	63927762	11q13.1	11q13.1	616019	RCOR2	Rest corepressor 2	RCOR2	283248	ENSG00000167771			Rcor2 (MGI:1859854)
chr11	63939002	63957319	11q13.1	11q13.1	619999	NAA40, PATT1	N-alpha-acetyltransferase 40, NatD catalytic subunit	NAA40	79829	ENSG00000110583			Naa40 (MGI:1918249)
chr11	63974620	63976543	11q13	11q13.1	123870	COX8A, MC4DN15	Cytochrome c oxidase, subunit VIIIA	COX8A	1351	ENSG00000176340	mutation identified in 1 MC4DN15 patient	?Mitochondrial complex IV deficiency, nuclear type 15, 619059 (3), Autosomal recessive	Cox8a (MGI:105959)
chr11	63986438	63998412	11q13.1	11q13.1	608337	OTUB1, OTU1, OTB1	OTU domain-containing ubiquitin aldehyde-binding protein 1	OTUB1	55611	ENSG00000167770			Otub1 (MGI:2147616)
chr11	63998558	64166113	11q13.1	11q13.1	610400	MACROD1, LRP16	Macro domain-containing 1	MACROD1	28992	ENSG00000133315			Macrod1 (MGI:2147583)
chr11	64035931	64119171	11q12-q13	11q13.1	604806	FLRT1	Fibronectin-like domain-containing leucine-rich transmembrane protein-1	FLRT1	23769	ENSG00000126500			Flrt1 (MGI:3026647)
chr11	64185272	64204543	11q13	11q13.1	605063	STIP1, HOP	Stress-induced phosphoprotein 1	STIP1	10963	ENSG00000168439			Stip1 (MGI:109130)
chr11	64205920	64223891	11q12	11q13.1	607901	FERMT3, KIND3, URP2, MIG2B	FERM domain-containing kindlin 3	FERMT3	83706	ENSG00000149781		Leukocyte adhesion deficiency, type III, 612840 (3), Autosomal recessive	Fermt3 (MGI:2147790)
chr11	64223799	64226257	11q13	11q13.1	610470	TRPT1	Transfer RNA phosphotransferase 1	TRPT1	83707	ENSG00000149743			Trpt1 (MGI:1333115)
chr11	64230432	64234281	11q13	11q13.1	604189	DANJC4, HSPF2	DnaJ, E. coli, homolog of, subfamily C, member 4 (heat-shock 40kD protein 2)	DNAJC4	3338	ENSG00000110011			Dnajc4 (MGI:1927346)
chr11	64234584	64239264	11q13	11q13.1	601398	VEGFB, VRF	Vascular endothelial growth factor B	VEGFB	7423	ENSG00000173511			Vegfb (MGI:106199)
chr11	64241095	64244135	11q13.1-q13.3	11q13.1	186946	FKBP2	FK506-binding protein-2, 13kD	FKBP2	2286	ENSG00000173486			Fkbp2 (MGI:95542)
chr11	64244479	64246943	11q13	11q13.1	601140	PPP1R14B, PLCB3N, PNG	Protein phosphatase 1, regulatory subunit 14B	PPP1R14B	26472	ENSG00000173457			Ppp1r14b,Ppp1r14bl (MGI:107682,MGI:1914005)
chr11	64251530	64269452	11q13	11q13.1	600230	PLCB3, SMDCD	Phospholipase C, beta 3 (phosphatidylinositol-specific)	PLCB3	5331	ENSG00000149782	within 900kb of MEN1	Spondylometaphyseal dysplasia with corneal dystrophy, 618961 (3), Autosomal recessive	Plcb3 (MGI:104778)
chr11	64269828	64284704	11q13.1	11q13.1	603167	BAD, BCL2L8	BCL1 antagonist of cell death	BAD	572	ENSG00000002330			Bad (MGI:1096330)
chr11	64291302	64300031	11q13	11q13.1	605720	KCNK4, TRAAK, FHEIG	Potassium channel, subfamily K, member 4	KCNK4	50801	ENSG00000182450		Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 (3), Autosomal dominant	Kcnk4 (MGI:1298234)
chr11	64300358	64304770	11q13.1	11q13.1	617511	CATSPERZ, TEX40	Cation channel, sperm-associated, auxiliary subunit zeta	CATSPERZ	25858	ENSG00000219435			Catsperz (MGI:1914327)
chr11	64305524	64316743	11q12	11q13.1	601998	ESRRA, ESRL1	Estrogen-related receptor, alpha	ESRRA	2101	ENSG00000173153			Esrra (MGI:1346831)
chr11	64316460	64318596	11q13.1	11q13.1	618630	TRMT112	tRNA methyltransferase subunit 11-2	TRMT112	51504	ENSG00000173113			Trmt112 (MGI:1914924)
chr11	64318121	64321811	11q13	11q13.1	606583	PRDX5, AOEB166	Peroxiredoxin 5	PRDX5	25824	ENSG00000126432			Prdx5 (MGI:1859821)
chr11	64340204	64357534	11q13.1	11q13.1	611205	CCDC88B, GIPIE	Coiled-coil domain-containing protein 88B	CCDC88B	283234	ENSG00000168071			Ccdc88b (MGI:1925567)
chr11	64359162	64372215	11q13.1	11q13.1	603606	RPS6KA4, RSKB, MSK2	Ribosomal protein S6 kinase A4	RPS6KA4	8986	ENSG00000162302			Rps6ka4 (MGI:1930076)
chr11	64555941	64572875	11q13	11q13.1	607097	SLC22A11, OAT4	Solute carrier family 22 (organic anion/cation transporter), member 11	SLC22A11	55867	ENSG00000168065			
chr11	64591220	64602344	11q13	11q13.1	607096	SLC22A12, OAT4L, URAT1	Solute carrier family 22 (urate transporter), member 12	SLC22A12	116085	ENSG00000197891		Hypouricemia, renal, 220150 (3), Autosomal recessive	Slc22a12 (MGI:1195269)
chr11	64606174	64723197	11q13	11q13.1	600566	NRXN2	Neurexin 2	NRXN2	9379	ENSG00000110076			Nrxn2 (MGI:1096362)
chr11	64726911	64745456	11q13	11q13.1	605577	RASGRP2, CDC25L	Ras guanyl nucleotide-releasing protein 2	RASGRP2	10235	ENSG00000068831	mutation identified in 1 BDPLT18 family	?Bleeding disorder, platelet-type, 18, 615888 (3), Autosomal recessive	Rasgrp2 (MGI:1333849)
chr11	64746389	64760715	11q13	11q13.1	608455	PYGM	Phosphorylase, glycogen, muscle	PYGM	5837	ENSG00000068976		McArdle disease, 232600 (3), Autosomal recessive	Pygm (MGI:97830)
chr11	64764606	64778542	11q13	11q13.1	601516	SF1, ZNF162, D11S636, ZFM1	Splicing factor 1 (zinc finger protein-162)	SF1	7536	ENSG00000168066			Sf1 (MGI:1095403)
chr11	64784918	64803214	11q13	11q13.1	603166	MAP4K2, RAB8IP, GCK	Mitogen-activating protein kinase kinase kinase kinase 2 (RAB8-interacting protein; germinal center kinase)	MAP4K2	5871	ENSG00000168067			Map4k2 (MGI:1346883)
chr11	64803516	64811294	11q13	11q13.1	613733	MEN1	Menin	MEN1	4221	ENSG00000133895	linked distal to PYGM	Lipoma, somatic (3); Angiofibroma, somatic (3); Multiple endocrine neoplasia 1, 131100 (3), Autosomal dominant; Carcinoid tumor of lung (3); Adrenal adenoma, somatic (3); Parathyroid adenoma, somatic (3)	Men1 (MGI:1316736)
chr11	64823052	64844653	11q13	11q13.1	613991	CDC42BPG, MRCKG	CDC42-binding protein kinase, gamma	CDC42BPG	55561	ENSG00000171219			Cdc42bpg (MGI:2652845)
chr11	64851642	64879693	11q13	11q13.1	605888	EHD1	EH domain-containing 1 protein	EHD1	10938	ENSG00000110047			Ehd1 (MGI:1341878)
chr11	64891137	64891246	11q13.1	11q13.1	610939	MIR192, MIRN192	Micro RNA 192	MIR192	406967	ENSG00000283926			Mir192 (MGI:2676856)
chr11	64891355	64891439	11q13.1	11q13.1	610941	MIR194-2, MIRN194-2	Micro RNA 194-2	MIR194-2	406970	ENSG00000284155			Mir194-2 (MGI:3618738)
chr11	64894546	64917209	11q13.1	11q13.1	616225	ATG2A, KIAA0404	Autophagy related 2A	ATG2A	23130	ENSG00000110046			Atg2a (MGI:1916291)
chr11	64917573	64934475	11q13	11q13.1	601644	PPP2R5B	Protein phosphatase-2, regulatory subunit B (B56), beta isoform	PPP2R5B	5526	ENSG00000068971			Ppp2r5b (MGI:2388480)
chr11	64934471	64937708	11q13.1	11q13.1	609651	GPHA2, GPA2	Glycoprotein hormone, alpha-2	GPHA2	170589	ENSG00000149735			Gpha2 (MGI:2156541)
chr11	64938230	64972108	11q13.1	11q13.1	617130	MAJIN, C11orf85	Membrane-anchored junction protein	MAJIN	283129	ENSG00000168070			Majin (MGI:1923913)
chr11	64987945	64996971	11q13.1	11q13.1	614983	BATF2, SARI	Basic leucine zipper transcription factor, ATF-like 2	BATF2	116071	ENSG00000168062			Batf2 (MGI:1921731)
chr11	65014160	65022184	11q13	11q13.1	601175	ARL2, MRCS1	ADP ribosylation factor-like GTPase 2	ARL2	402	ENSG00000213465	mutation identified in 1 MRCS1 family	?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1, 619082 (3), Autosomal dominant	Arl2 (MGI:1928393)
chr11	65027439	65040572	11q13	11q13.1	605964	SNX15	Sorting nexin 15	SNX15	29907	ENSG00000110025			Snx15 (MGI:1916274)
chr11	65040933	65044828	11q13.1	11q13.1	618796	SAC3D1, SHD1	SAC3 domain-containing protein 1	SAC3D1	29901	ENSG00000168061			Sac3d1 (MGI:1913656)
chr11	65044818	65061203	11q12	11q13.1	602640	NAALADL1, I100	N-acetylated alpha-linked acidic dipeptidase-like 1	NAALADL1	10004	ENSG00000168060			Naaladl1 (MGI:2685810)
chr11	65061093	65084040	11q13.1	11q13.1	609374	CDCA5, SORORIN	Cell division cycle-associated protein 5 (sororin)	CDCA5	113130	ENSG00000146670			Cdca5 (MGI:1915099)
chr11	65084222	65088398	11q13	11q13.1	619397	ZFPL1	Zinc finger protein-like 1	ZFPL1	7542	ENSG00000162300			Zfpl1 (MGI:1891017)
chr11	65096214	65111862	11q13.1	11q13.1	615738	VPS51, ANG2, PCH13	VPS51 subunit of GARP complex	VPS51	738	ENSG00000149823		Pontocerebellar hypoplasia, type 13, 618606 (3), Autosomal recessive	Vps51 (MGI:1915755)
chr11	65111872	65116230	11q13	11q13.1	603414	TM7SF2, ANG1	Transmembrane 7 superfamily, member 2	TM7SF2	7108	ENSG00000149809			Tm7sf2 (MGI:1920416)
chr11	65116403	65117701	11q13	11q13.1	604575	ZNHIT2, C11orf5, FON	Zinc finger HIT domain containing protein 2	ZNHIT2	741	ENSG00000174276			Znhit2 (MGI:1352481)
chr11	65120630	65122134	11q13	11q13.1	134690	FAU	FAU ubiquitin like and ribosomal protein S30 fusion	FAU	2197	ENSG00000149806			Fau (MGI:102547)
chr11	65122183	65127371	11q13	11q13.1	606866	MRPL49, NOF1	Mitochondrial ribosomal protein L49	MRPL49	740	ENSG00000149792			Mrpl49 (MGI:108180)
chr11	65127279	65134519	11q13	11q13.1	608046	SYVN1, HRD1, KIAA1810	Synovial apoptosis inhibitor 1	SYVN1	84447	ENSG00000162298			Syvn1 (MGI:1921376)
chr11	65170233	65173374	11q13.1	11q13.1	614030	SPDYC, SPDYE4, RINGOC	Speedy/RINGO cell cycle regulator family, member C	SPDYC	387778	ENSG00000204710			
chr11	65181373	65212006	11q13	11q13.1	114220	CAPN1, SPG76	Calpain, large polypeptide L1	CAPN1	823	ENSG00000014216		Spastic paraplegia 76, autosomal recessive, 616907 (3), Autosomal recessive	Capn1 (MGI:88263)
chr11	65213840	65242757	11q13.1	11q13.1	611696	SLC22A20, OAT6	Solute carrier family 22, member 20	SLC22A20P	440044	ENSG00000293475			Slc22a20 (MGI:2685809)
chr11	65261962	65305985	11q13.1	11q13.1	620063	POLA2	DNA polymerase alpha-2, accessory subunit	POLA2	23649	ENSG00000014138			Pola2 (MGI:99690)
chr11	65314866	65322417	11q12-q13	11q13.1	606132	CDC42EP2, CEP2, BORG1	CDC42 effector protein 2	CDC42EP2	10435	ENSG00000149798			Cdc42ep2 (MGI:1929744)
chr11	65333852	65354262	11q13	11q13.1	601671	DPF2, REQ, UBID4, CSS7	D4, zinc, and double PHD fingers family, member 2	DPF2	5977	ENSG00000133884		Coffin-Siris syndrome 7, 618027 (3), Autosomal dominant	Dpf2 (MGI:109529)
chr11	65354751	65357613	11q13.1	11q13.1	619084	TIGD3	Tigger transposable element-derived gene 3	TIGD3	220359	ENSG00000173825			Tigd3 (MGI:2681860)
chr11	65368026	65413525	11q13.1	11q13.1	618337	FRMD8, ITAP	FERM domain-containing protein 8	FRMD8	83786	ENSG00000126391			Frmd8 (MGI:1914707)
chr11	65375192	65383701	11q13.1	11q13.1	610825	SLC25A45	Solute carrier family 25, member 45	SLC25A45	283130	ENSG00000162241			Slc25a45 (MGI:2147731)
chr11	65422798	65445540	11q13.1	11q13.1	612769	NEAT1, TNCRNA	Noncoding nuclear-enriched abundant transcript 1	NEAT1	283131	ENSG00000245532			Neat1 (MGI:1914211)
chr11	65497738	65506516	11q13.1	11q13.1	607924	MALAT1, PRO1073	Metastasis-associated lung adenocarcinoma transcript 1	MALAT1	378938		fused with TFEB in renal tumors		Malat1 (MGI:1919539)
chr11	65525083	65538704	11q13	11q13.1	607982	SCYL1, NTKL, SCAR21	SCY1-like 1	SCYL1	57410	ENSG00000142186		Spinocerebellar ataxia, autosomal recessive 21, 616719 (3), Autosomal recessive	Scyl1 (MGI:1931787)
chr11	65538559	65558359	11q12	11q13.1	602090	LTBP3, LTBP2, DASS, GPHYSD3	Latent transforming growth factor beta binding protein-3	LTBP3	4054	ENSG00000168056		Dental anomalies and short stature, 601216 (3), Autosomal recessive; Geleophysic dysplasia 3, 617809 (3), Autosomal dominant	Ltbp3 (MGI:1101355)
chr11	65570477	65571888	11q13.1	11q13.1	606044	ZNRD2, SSSCA1	Zinc ribbon domain containing 2	ZNRD2	10534	ENSG00000173465			Znrd2 (MGI:1913482)
chr11	65572538	65574190	11q13.1	11q13.1	616128	FAM89B, MTVR, LRAP25	Family with sequence similarity 89, member B	FAM89B	23625	ENSG00000176973			Fam89b (MGI:106595)
chr11	65576053	65592650	11q13.1	11q13.1	619583	EHBP1L1	EH domain-binding protein 1-like 1	EHBP1L1	254102	ENSG00000173442			Ehbp1l1 (MGI:3612340)
chr11	65592836	65595800	11q13	11q13.1	603940	KCNK7	Potassium channel, subfamily K, member 7	KCNK7	10089	ENSG00000173338			Kcnk7 (MGI:1341841)
chr11	65597757	65614221	11q13.1-q13.3	11q13.1	600050	MAP3K11, MLK3, PTK1, SPRK	Mitogen-activated protein kinase kinase kinase 11	MAP3K11	4296	ENSG00000173327			Map3k11 (MGI:1346880)
chr11	65615776	65637439	11q13.1	11q13.1	617657	PCNX3	Pecanex 3	PCNX3	399909	ENSG00000197136			Pcnx3 (MGI:1861733)
chr11	65638101	65650912	11q13.3	11q13.1	602180	SIPA1, SPA1	Signal-induced proliferation-associated gene-1	SIPA1	6494	ENSG00000213445			Sipa1 (MGI:107576)
chr11	65653601	65663857	11q12-q13	11q13.1	164014	RELA, NFKB3, CMCU, AIF3BL3	RELA protooncogene, NF-kB subunit	RELA	5970	ENSG00000173039		Autoinflammatory disease, familial, Behcet-like-3, 618287 (3), Autosomal dominant	Rela (MGI:103290)
chr11	65712018	65719604	11q13	11q13.1	601409	KAT5, HTATIP, TIP60, ESA1, PLIP, NEDFASB	Lysine acetyltransferase 5	KAT5	10524	ENSG00000172977		Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities, 619103 (3), Autosomal dominant	Kat5 (MGI:1932051)
chr11	65717673	65720798	11q13.2	11q13.1	610330	RNASEH2C, AYP1, FLJ20974, AGS3	Ribonuclease H2, subunit C	RNASEH2C	84153	ENSG00000172922		Aicardi-Goutieres syndrome 3, 610329 (3), Autosomal recessive	Rnaseh2c (MGI:1915459)
chr11	65773898	65780976	11q13.1	11q13.1	614367	AP5B1, DKFZp761E198	Adaptor-related protein complex 5, beta-1 subunit	AP5B1	91056	ENSG00000254470			Ap5b1 (MGI:2685808)
chr11	65787063	65797214	11q13	11q13.1	602313	OVOL1	Ovo, Drosophila, homolog-like, 1	OVOL1	5017	ENSG00000172818			Ovol1 (MGI:1330290)
chr11	65833963	65853701	11q13.1	11q13.1	621073	SNX32	Sorting nexin 32	SNX32	254122	ENSG00000172803			Snx32 (MGI:2444704)
chr11	65854673	65858180	11q13	11q13.1	601442	CFL1	Cofilin 1 (non-muscle)	CFL1	1072	ENSG00000172757			Cfl1 (MGI:101757)
chr11	65859674	65867653	11q13	11q13.1	606591	MUS81	MUS81 structure-specific endonuclease subunit	MUS81	80198	ENSG00000172732			Mus81 (MGI:1918961)
chr11	65866441	65872800	11q13	11q13.1	604633	EFEMP2, FBLN4, UPH1, ARCL1B	EGF-containing fibulin-like extracellular matrix protein 2 (fibulin 4)	EFEMP2	30008	ENSG00000172638		Cutis laxa, autosomal recessive, type IB, 614437 (3), Autosomal recessive	Efemp2 (MGI:1891209)
chr11	65879837	65883741	11q13.1	11q13.1	602364	CTSW	Cathepsin W	CTSW	1521	ENSG00000172543			Ctsw (MGI:1338045)
chr11	65883740	65888471	11q13.1	11q13.1	608296	FIBP, TROFAS	Fibroblast growth factor, acidic, intracellular binding protein	FIBP	9158	ENSG00000172500		Thauvin-Robinet-Faivre syndrome, 617107 (3), Autosomal recessive	Fibp (MGI:1926233)
chr11	65890673	65891635	11q13.1	11q13.1	605360	DIPA	Delta antigen-interacting protein A	CCDC85B	11007	ENSG00000175602			Ccdc85b (MGI:2147607)
chr11	65892049	65900545	11q13	11q13.1	136515	FOSL1, FRA1	FOS-like 1, AP-1 transcription factor subunit	FOSL1	8061	ENSG00000175592			Fosl1 (MGI:107179)
chr11	65919426	65921563	11q13.1	11q13.1	602289	DRAP1	DR1-associated protein 1	DRAP1	10589	ENSG00000175550			Drap1 (MGI:1913806)
chr11	65961734	65980137	11q13.1	11q13.1	605941	SART1, HOMS1	Spliceosome-associated factor 1, recruiter of U4/U6.U5 tri-snRNP	SART1	9092	ENSG00000175467			Sart1 (MGI:1309453)
chr11	65996545	66002157	11q13.1	11q13.1	618473	EIF1AD, OBELIX	Eukaryotic translation initiation factor 1A domain-containing protein	EIF1AD	84285	ENSG00000175376			Eif1ad (MGI:1917110)
chr11	66002079	66004149	11q13.1	11q13.1	603811	BANF1, BAF, NGPS	Barrier to autointegration factor 1	BANF1	8815	ENSG00000175334		Nestor-Guillermo progeria syndrome, 614008 (3), Autosomal recessive	Banf1 (MGI:1346330)
chr11	66012008	66013505	11q13	11q13.1	601891	CST6, ECTD15	Cystatin-M	CST6	1474	ENSG00000175315	mutation identified in 1 ECTD15 family	?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 (3), Autosomal recessive	Cst6 (MGI:1920970)
chr11	66016752	66026479	11q13.1	11q13.1	606389	CATSPER1, CATSPER, SPGF7	Cation channel, sperm-associated, 1	CATSPER1	117144	ENSG00000175294		Spermatogenic failure 7, 612997 (3), Autosomal recessive	Catsper1 (MGI:2179947)
chr11	66040765	66049161	11q13	11q13.1	608234	GAL3ST3, GAL3ST2	Galactose-3-O-sulfotransferase 3	GAL3ST3	89792	ENSG00000175229			Gal3st3 (MGI:3617843)
chr11	66052364	66069308	11q13.1	11q13.1	605591	SF3B2, SF3B145, SAP145, CFM	Splicing factor 3B, subunit 2	SF3B2	10992	ENSG00000087365		Craniofacial microsomia, 164210 (3), Autosomal dominant	Sf3b2 (MGI:2441856)
chr11	66070272	66244744	11q13.1	11q13.1-q13.2	607492	PACS1, SHMS, MRD17	Phosphofurin acidic cluster sorting protein 1	PACS1	55690	ENSG00000175115		Schuurs-Hoeijmakers syndrome, 615009 (3), Autosomal dominant	Pacs1 (MGI:1277113)
chr11	66243938	66267860	11q12-q13	11q13.2	611729	KLC2, SPOAN	Kinesin, light chain 2	KLC2	64837	ENSG00000174996		Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3), Autosomal recessive	Klc2 (MGI:107953)
chr11	66268639	66277492	11q13.1	11q13.2	612565	RAB1B	Ras-associated protein RAB1B	RAB1B	81876	ENSG00000174903			Rab1b (MGI:1923558)
chr11	66278175	66284206	11q13.2	11q13.2	611288	CNIH2, CNIL	Cornichon, Drosophila, homolog of, 2	CNIH2	254263	ENSG00000174871			Cnih2 (MGI:1277225)
chr11	66284580	66289143	11q13	11q13.2	611484	YIF1A, YIF1	YIP1-interacting factor homolog A, membrane-trafficking protein	YIF1A	10897	ENSG00000174851			Yif1a (MGI:1915340)
chr11	66291894	66296664	11q13.2	11q13.2	620108	TMEM151A, EKD3, DYT36	Transmembrane protein 151A	TMEM151A	256472	ENSG00000179292		Episodic kinesigenic dyskinesia 3, 620245 (3), Autosomal dominant	Tmem151a (MGI:2147713)
chr11	66314494	66317044	11q13	11q13.2	606064	CD248, TEM1	CD248 antigen	CD248	57124	ENSG00000174807			Cd248 (MGI:1917695)
chr11	66330241	66336774	11q13.2	11q13.2	605965	RIN1	Ras and Rab interactor 1	RIN1	9610	ENSG00000174791			Rin1 (MGI:2385695)
chr11	66337339	66345104	11q13.1-q13.2	11q13.2	606259	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	BRMS1	25855	ENSG00000174744			Brms1 (MGI:2388804)
chr11	66345374	66347629	11q13.2	11q13.2	605517	B4GAT1, B3GNT1, IGNT, IGAT, MDDGA13	Beta-1,4glucuronyltransferase 1	B4GAT1	11041	ENSG00000174684		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3), Autosomal recessive	B4gat1 (MGI:1919680)
chr11	66362521	66372446	11q13	11q13.2	602110	SLC29A2, HNP36, DER12	Solute carrier family 29 (nucleoside transporters), member 2 (hydrophobic nucleolar protein, 36kD)	SLC29A2	3177	ENSG00000174669			Slc29a2 (MGI:1345278)
chr11	66409158	66426707	11q13	11q13.2	608554	NPAS4, NXF	Neuronal PAS domain protein 4	NPAS4	266743	ENSG00000174576			Npas4 (MGI:2664186)
chr11	66435075	66438848	11q13.3	11q13.2	611826	MRPL11	Mitochondrial ribosomal protein L11	MRPL11	65003	ENSG00000174547			Mrpl11 (MGI:2137215)
chr11	66466327	66477337	11q13.2	11q13.2	609827	PELI3	Pellino E3 ubiquitin protein ligase 3	PELI3	246330	ENSG00000174516			Peli3 (MGI:1924963)
chr11	66480434	66509657	11q12-q13.1	11q13.2	606818	DPP3	Dipeptidyl peptidase III	DPP3	10072	ENSG00000254986			Dpp3 (MGI:1922471)
chr11	66510635	66533598	11q13	11q13.2	209901	BBS1	BBS1 gene	BBS1	582	ENSG00000174483		Bardet-Biedl syndrome 1, 209900 (3), Digenic recessive, Autosomal recessive	Bbs1 (MGI:1277215)
chr11	66546395	66563334	11q13-q14	11q13.2	102574	ACTN3, ACTN3D	Actinin, alpha-3	ACTN3	89	ENSG00000248746		[Sprinting performance], 617749 (3), Autosomal recessive; [Alpha-actinin-3 deficiency], 617749 (3), Autosomal recessive	Actn3 (MGI:99678)
chr11	66563464	66568606	11q13.1	11q13.2	603539	CTSF, CLN13	Cathepsin F	CTSF	8722	ENSG00000174080		Ceroid lipofuscinosis, neuronal, 13 (Kufs type), 615362 (3), Autosomal recessive	Ctsf (MGI:1861434)
chr11	66593185	66606019	11q13	11q13.2	603864	CCS	Copper chaperone for superoxide dismutase	CCS	9973	ENSG00000173992			Ccs (MGI:1333783)
chr11	66616630	66629934	11q13	11q13.2	612409	RBM14, PSP2, COAA, SIP	RNA-binding motif protein 14	RBM14	10432	ENSG00000239306			Rbm14 (MGI:1929092)
chr11	66638703	66668380	11q13.2	11q13.2	602571	RBM4. LARK	RNA-binding motif protein-4 (lark, Drosophila, homolog of)	RBM4	5936	ENSG00000173933	located in intron 2 of RBM4B		Rbm4 (MGI:1100865)
chr11	66664998	66677887	11q13.2	11q13.2	621045	RMB4B	RNA-binding motif protein 4B	RBM4B	83759	ENSG00000173914			Rbm4b (MGI:1913954)
chr11	66682497	66744682	11q13	11q13.2	604985	SPTBN2, SCA5, SCAR14	Spectrin, beta, nonerythrocytic, 2	SPTBN2	6712	ENSG00000173898		Spinocerebellar ataxia 5, 600224 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 14, 615386 (3), Autosomal recessive	Sptbn2 (MGI:1313261)
chr11	66744769	66843516	11q13.2	11q13.2	616109	C11orf80, HYDM4	Chromosome 11 open reading frame 80	TOP6BL	79703	ENSG00000173715		Hydatidiform mole, recurrent, 4, 618432 (3), Autosomal recessive	Top6bl (MGI:2685806)
chr11	66843441	66846552	11q13	11q13.2	605385	RCE1	Ras converting CAAX endopeptidase 1	RCE1	9986	ENSG00000173653			Rce1 (MGI:1336895)
chr11	66848420	66958383	11q13.4-q13.5	11q13.2	608786	PC	Pyruvate carboxylase	PC	5091	ENSG00000173599		Pyruvate carboxylase deficiency, 266150 (3), Autosomal recessive	Pcx (MGI:97520)
chr11	66857064	66860475	11q13.1	11q13.2	612810	LRFN4, SALM3	Leucine-rich repeat and fibronectin type III domain-containing protein 4	LRFN4	78999	ENSG00000173621			Lrfn4 (MGI:2385612)
chr11	67006771	67050863	11q13.2	11q13.2	606436	SYT12, SRG1	Synaptotagmin 12	SYT12	91683	ENSG00000173227			Syt12 (MGI:2159601)
chr11	67056847	67072017	11q14.3	11q13.2	605781	RHOD, ARHD, RHOHP1	Ras homolog gene family, member D	RHOD	29984	ENSG00000173156			Rhod (MGI:108446)
chr11	67119263	67258082	11q13.2	11q13.2	605657	KDM2A, FBXL11, FBL11	Lysine demethylase 2A	KDM2A	22992	ENSG00000173120			Kdm2a (MGI:1354736)
chr11	67266473	67286556	11q13.2	11q13.2	109635	GRK2, ADRBK1	G protein-coupled receptor kinase 2	GRK2	156	ENSG00000173020			Grk2 (MGI:87940)
chr11	67289303	67302484	11q13.2	11q13.2	615126	ANKRD13D	Ankyrin repeat domain-containing protein 13D	ANKRD13D	338692	ENSG00000172932			Ankrd13d (MGI:1915673)
chr11	67303530	67312592	11q13.2	11q13.2	606780	SSH3	Slingshot, Drosophila, homolog of, 3	SSH3	54961	ENSG00000172830			Ssh3 (MGI:2683546)
chr11	67350765	67353596	11q13	11q13.2	611525	POLD4, POLDS, P12	Polymerase, DNA-directed, delta 4	POLD4	57804	ENSG00000175482			Pold4 (MGI:1916995)
chr11	67364168	67374177	11q13.3	11q13.2	607672	CLCF1, BSF3, CLC, CISS2	Cardiotrophin-like cytokine	CLCF1	23529	ENSG00000175505		Cold-induced sweating syndrome 2, 610313 (3), Autosomal recessive	Clcf1 (MGI:1930088)
chr11	67391986	67398412	11q13.1-q13.2	11q13.2	603761	RAD9A, RAD9	RAD9 checkpoint clamp component A	RAD9A	5883	ENSG00000172613			Rad9a (MGI:1328356)
chr11	67398183	67401858	11q13	11q13.2	176875	PPP1CA, PPP1A	Protein phosphatase-1, catalytic subunit, alpha isoform	PPP1CA	5499	ENSG00000172531			Ppp1ca (MGI:103016)
chr11	67403913	67410090	11q13.1	11q13.2	610831	TBC1D10C, CARABIN	TBC1 domain family, member 10C	TBC1D10C	374403	ENSG00000175463			Tbc1d10c (MGI:1922072)
chr11	67415678	67425604	11q13	11q13.2	613368	CARNS1, ATPGD1, KIAA1394	Carnosine synthase 1	CARNS1	57571	ENSG00000172508			Carns1 (MGI:2147595)
chr11	67428494	67435401	11q13.2	11q13.2	608939	RPS6KB2, S6K2	Ribosomal protein S6 kinase B2	RPS6KB2	6199	ENSG00000175634			Rps6kb2 (MGI:1927343)
chr11	67435510	67443809	11q13.2	11q13.2	609849	CORO1B	Coronin 1B	CORO1B	57175	ENSG00000172725			Coro1b (MGI:1345963)
chr11	67435510	67437682	11q13.3	11q13.2	601577	PTPRCAP, LPAP	Protein tyrosine phosphatase, receptor type, c polypeptide-associated protein	PTPRCAP	5790	ENSG00000213402			Ptprcap (MGI:97811)
chr11	67452403	67461752	11q13.1	11q13.2	608965	CABP4, CRSD, CSNB2B	Calcium-binding protein 4	CABP4	57010	ENSG00000175544		Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3), Autosomal recessive	Cabp4 (MGI:1920910)
chr11	67483026	67491103	11q13.3	11q13.2	605555	AIP, XAP2, ARA9, PITA1	Aryl hydrocarbon receptor-interacting protein	AIP	9049	ENSG00000110711		Pituitary adenoma 1, multiple types, 102200 (3), Somatic mutation, Autosomal dominant; Pituitary adenoma predisposition, 102200 (3), Somatic mutation, Autosomal dominant	Aip (MGI:109622)
chr11	67491768	67506266	11q13.2	11q13.2	608794	PITPNM1, NIR2, RDGBA	Phosphatidylinositol transfer protein, membrane-associated, 1	PITPNM1	9600	ENSG00000110697			Pitpnm1 (MGI:1197524)
chr11	67506497	67508162	11q13.2	11q13.2	620061	CDK2AP2, DOC1R	CDK2-associated protein 2	CDK2AP2	10263	ENSG00000167797			Cdk2ap2 (MGI:1098779)
chr11	67518912	67523446	11q13.1	11q13.2	607314	CABP2, DFNB93	Calcium-binding protein 2	CABP2	51475	ENSG00000167791		Deafness, autosomal recessive 93, 614899 (3), Autosomal recessive	Cabp2 (MGI:1352749)
chr11	67583812	67586653	11q13	11q13.2	134660	GSTP1, GST3	Glutathione S-transferase pi	GSTP1	2950	ENSG00000084207	formerly called GST1		Gstp-ps,Gstp1,Gstp2,Gstp3 (MGI:2385078,MGI:3782108,MGI:95864,MGI:95865)
chr11	67606936	67612554	11q13	11q13.2	161015	NDUFV1, UQOR1, MC1DN4	NADH-ubiquinone oxidoreductase core subunit V1	NDUFV1	4723	ENSG00000167792		Mitochondrial complex I deficiency, nuclear type 4, 618225 (3), Autosomal recessive	Ndufv1 (MGI:107851)
chr11	67631303	67641754	11q13.1-q13.2	11q13.2	604648	TBX10	T-box 10	TBX10	347853	ENSG00000167800			Tbx10 (MGI:1261436)
chr11	67642555	67650730	11q13.2	11q13.2	614413	ACY3, HCBP1	Aminoacylase 3	ACY3	91703	ENSG00000132744			Acy3 (MGI:1918920)
chr11	67662155	67681252	Chr.11	11q13.2	601917	ALDH3B2, ALDH8	Aldehyde dehydrogenase 3 family, member B2	ALDH3B2	222	ENSG00000132746			Aldh3b2,Aldh3b3 (MGI:1920708,MGI:2147613)
chr11	67991100	68004097	11q13	11q13.2	608204	UNC93B1, IIAE1	unc-93 homolog B1, TLR signaling regulator	UNC93B1	81622	ENSG00000110057		{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3), Autosomal recessive	Unc93b1 (MGI:1859307)
chr11	68008547	68029276	Chr.11	11q13.2	600466	ALDH3B1, ALDH7	Aldehyde dehydrogenase 3 family, member B1	ALDH3B1	221	ENSG00000006534			Aldh3b1 (MGI:1914939)
chr11	68030681	68036644	11q13	11q13.2	602141	NDUFS8, MC1DN2	NADH-ubiquinone oxidoreductase core subunit S8	NDUFS8	4728	ENSG00000110717	previously assigned to 3q28	Mitochondrial complex I deficiency, nuclear type 2, 618222 (3), Autosomal recessive	Ndufs8 (MGI:2385079)
chr11	68039025	68053762	11q13.4-q13.5	11q13.2	604592	TCIRG1, TIRC7, OC116, OPTB1	T-cell immune regulator 1	TCIRG1	10312	ENSG00000110719		Osteopetrosis, autosomal recessive 1, 259700 (3), Autosomal recessive	Tcirg1 (MGI:1350931)
chr11	68052859	68121388	11q13.2	11q13.2	118491	CHKA, CHK, NEDMIMS	Choline kinase, alpha	CHKA	1119	ENSG00000110721		Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, 620023 (3), Autosomal recessive	Chka (MGI:107760)
chr11	68154863	68213648	11q13	11q13.2	610881	KMT5B, SUV420H1, CGI85, MRD51	Lysine methyltransferase 5B	KMT5B	51111	ENSG00000110066		Intellectual developmental disorder, autosomal dominant 51, 617788 (3), Autosomal dominant	Kmt5b (MGI:2444557)
chr11	68261338	68271973	11q13	11q13.2	610880	C11orf24	Chromosome 11 open reading frame 24	C11orf24	53838	ENSG00000171067			1810055G02Rik (MGI:1919306)
chr11	68298412	68449275	11q13.4	11q13.2	603506	LRP5, BMND1, LRP7, LR3, OPPG, OPTA1, EVR4, PCLD4	Low density lipoprotein receptor-related protein-5	LRP5	4041	ENSG00000162337		Osteopetrosis, autosomal dominant 1, 607634 (3), Autosomal dominant; [Bone mineral density variability 1], 601884 (3), Autosomal dominant; Polycystic liver disease 4 with or without kidney cysts, 617875 (3), Autosomal dominant; Endosteal hyperostosis, 144750 (3), Autosomal dominant; Osteoporosis-pseudoglioma syndrome, 259770 (3), Autosomal recessive; Exudative vitreoretinopathy 4, 601813 (3), Autosomal recessive, Autosomal dominant	Lrp5 (MGI:1278315)
chr11	68460752	68615334	11q13	11q13.2	610879	PPP6R3, SAPS3, PP6R3, C11orf23, KIAA1558	Protein phosphatase 6, regulatory subunit 3	PPP6R3	55291	ENSG00000110075			Ppp6r3 (MGI:1921807)
chr11	68684544	68691175	11q13.3-q13.5	11q13.2	137035	GAL, GALN, GLNN, ETL8	Galanin	GAL	51083	ENSG00000069482	mutation identified in 1 ETL8 family	?Epilepsy, familial temporal lobe, 8, 616461 (3), Autosomal dominant	Gal (MGI:95637)
chr11	68700001	75500000	11q13.3-q13.4		194633	ZNF126	Zinc finger protein-126 (HZF-2)						
chr11	68704796	68751520	11q13.2-q13.3	11q13.3	604374	MTL5, TESMIN	Metallothionein-like 5, testis-specific	TESMIN	9633	ENSG00000132749			Tesmin (MGI:1340029)
chr11	68754620	68844277	11q13	11q13.3	600528	CPT1A	Carnitine palmitoyltransferase I, liver	CPT1A	1374	ENSG00000110090		CPT deficiency, hepatic, type IA, 255120 (3), Autosomal recessive	Cpt1a (MGI:1098296)
chr11	68891278	68903832	11q13.2	11q13.3	611834	MRPL21	Mitochondrial ribosomal protein L21	MRPL21	219927	ENSG00000197345			Mrpl21 (MGI:2660674)
chr11	68903891	68940601	11q13.2-q13.4	11q13.3	600502	IGHMBP2, SMUBP2, CATF1, SMARD1, HMNR1, CMT2S	Immunoglobulin mu binding protein 2	IGHMBP2	3508	ENSG00000132740		Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, autosomal recessive 1, 604320 (3), Autosomal recessive	Ighmbp2 (MGI:99954)
chr11	68980021	68980986	11q13.2	11q13.3	607231	MRGPRD, MRGD	Mas-related G protein-coupled receptor family, member D	MRGPRD	116512	ENSG00000172938			Mrgprd (MGI:3033142)
chr11	69004398	69013633	11q13.2	11q13.3	607233	MRGPRF, MRGF, RTA	Mas-related G protein-coupled receptor family, member F	MRGPRF	116535	ENSG00000172935			Mrgprf (MGI:2384823)
chr11	69048932	69090597	11q13.2	11q13.3	612163	TPCN2, TPC2, SHEP10	Two-pore segment channel 2	TPCN2	219931	ENSG00000162341		[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)	Tpcn2 (MGI:2385297)
chr11	69294155	69297287	11q13.1	11q13.3	605625	MYEOV	Myeloma overexpressed gene	MYEOV	26579	ENSG00000172927			
chr11	69475604	69481579	11q13	11q13.3	617697	LINC02747, CUPID2	Long intergenic noncoding RNA 2747	LINC02747	105379407	ENSG00000255774			
chr11	69481663	69493210	11q13	11q13.3	617696	CUPID1, LINC01488, BRCAT8	CCND1 upstream intergenic DNA repair 1, noncoding	LINC01488	101928292	ENSG00000285094			
chr11	69641156	69654474	11q13	11q13.3	168461	CCND1, PRAD1, BCL1	Cyclin D1	CCND1	595	ENSG00000110092	pseudogene on 11q13	{von Hippel-Lindau syndrome, modifier of}, 193300 (3), Autosomal dominant; {Colorectal cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant; {Multiple myeloma, susceptibility to}, 254500 (3), Somatic mutation	Ccnd1 (MGI:88313)
chr11	69665563	69675353	11q13	11q13.3	607224	ORAOV1, TAOS1	Oral cancer overexpressed gene 1	LTO1	220064	ENSG00000149716			LTO1 (MGI:1919534)
chr11	69698238	69704022	11q13.1	11q13.3	603891	FGF19	Fibroblast growth factor 19	FGF19	9965	ENSG00000162344			Fgf15 (MGI:1096383)
chr11	69771022	69775341	11q13	11q13.3	164980	FGF4, HSTF1	Fibroblast growth factor-4 (heparin secretory transforming protein-1; Kaposi sarcoma oncogene)	FGF4	2249	ENSG00000075388	coamplified with FGF3 in melanoma		Fgf4 (MGI:95518)
chr11	69809968	69819416	11q13	11q13.3	164950	FGF3, INT2	Fibroblast growth factor-3 (oncogene INT2)	FGF3	2248	ENSG00000186895	35kb 5' to HST1	Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3), Autosomal recessive	Fgf3 (MGI:95517)
chr11	69965997	70189530	11q13	11q13.3	610108	ANO1, TMEM16A, FLJ10261, INDMS, MYMY7	Anoctamin 1, calcium activated chloride channel	ANO1	55107	ENSG00000131620	mutation identified in 1 INDMS family and 1 MYMY7 AR patient	Moyamoya disease 7, 620687 (3), Autosomal recessive, Autosomal dominant; ?Intestinal dysmotility syndrome, 620045 (3), Autosomal recessive	Ano1 (MGI:2142149)
chr11	70203296	70207390	11q13.3	11q13.3	602457	FADD, IMD90	FAS-associating protein with death domain	FADD	8772	ENSG00000168040		Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction, 613759 (3), Autosomal recessive	Fadd (MGI:109324)
chr11	70270690	70384396	11q13.3	11q13.3	611054	PPFIA1, LIP1	PTPRF-interacting protein alpha-1	PPFIA1	8500	ENSG00000131626			Ppfia1 (MGI:1924750)
chr11	70398529	70436575	11q13	11q13.3	164765	CTTN, EMS1	Cortactin	CTTN	2017	ENSG00000085733	amplified in breast cancer and squamous cell cancer		Cttn (MGI:99695)
chr11	70467854	71253228	11q13.3-q13.4	11q13.3-q13.4	603290	SHANK2, CORTBP1, AUTS17	SH3 and multiple ankyrin repeat domains 2	SHANK2	22941	ENSG00000162105		{Autism susceptibility 17}, 613436 (3)	Shank2 (MGI:2671987)
chr11	71427287	71449043	11q12-q13	11q13.4	602858	DHCR7, SLOS	Delta-7-dehydrocholesterol reductase	DHCR7	1717	ENSG00000172893		Smith-Lemli-Opitz syndrome, 270400 (3), Autosomal recessive	Dhcr7 (MGI:1298378)
chr11	71453203	71501816	11q13.2	11q13.4	608285	NADSYN1, VCRL3	NAD synthetase 1	NADSYN1	55191	ENSG00000172890		Vertebral, cardiac, renal, and limb defects syndrome 3, 618845 (3), Autosomal recessive	Nadsyn1 (MGI:1926164)
chr11	71548420	71549608	11q13.5	11q13.4	148021	KRTAP5-9, KRN1	Keratin associated protein 5-9	KRTAP5-9	3846	ENSG00000254997			Krtap5-1,Krtap5-20,Krtap5-22,Krtap5-24,Krtap5-26,Krtap5-4 (MGI:1354732,MGI:1354758,MGI:3782743,MGI:5588894,MGI:5623345,MGI:5791454)
chr11	71787514	71799661	11q13.4	11q13.4	616124	FAM86C1P, FAM86C1	Family with sequence similarity 86, member C1, pseudogene	FAM86C1P	55199	ENSG00000158483			
chr11	71929046	71997597	11q13.4	11q13.4	620529	RNF121	RING finger protein 121	RNF121	55298	ENSG00000137522			Rnf121 (MGI:1922462)
chr11	71998909	72008200	11q13.4	11q13.4	604113	IL18BP, FVH	Interleukin 18-binding protein	IL18BP	10068	ENSG00000137496	mutation identified in 1 FVH patient	{?Hepatitis, fulminant viral, susceptibility to}, 618549 (3), Autosomal recessive	Il18bp (MGI:1333800)
chr11	72002864	72080542	11q13	11q13.4	164009	NUMA1	Nuclear mitotic apparatus protein-1	NUMA1	4926	ENSG00000137497	fused with RARA in acute promyelocytic leukemia (APL)		Numa1 (MGI:2443665)
chr11	72080850	72110782	11q13.3-q13.4	11q13.4	612414	LRTOMT, LRTOMT1, LRTOMT2, DFNB63	Leucine-rich transmembrane O-methyltransferase	LRTOMT	220074	ENSG00000284922		Deafness, autosomal recessive 63, 611451 (3), Autosomal recessive	Lrrc51,Tomt (MGI:1916608,MGI:3769724)
chr11	72097292	72103297	11q13.4	11q13.4	613510	LAMTOR1, C11orf59, PDRO	Late endosomal/lysosomal adaptor, mitogen-activated protein kinase and mammalian target of rapamycin activator 1	LAMTOR1	55004	ENSG00000149357			Lamtor1 (MGI:1913758)
chr11	72106372	72112780	11q13.4	11q13.4	614717	ANAPC15, APC15	Anaphase-promoting complex, subunit 15	ANAPC15	25906	ENSG00000110200			Anapc15,Anapc15-ps (MGI:1922680,MGI:3646302)
chr11	72135725	72139892	11q13.4	11q13.4	602469	FOLR3	Folate receptor 3	FOLR3	2352	ENSG00000110203			Folr2 (MGI:95569)
chr11	72189709	72196323	11q13.3-q13.5	11q13.4	136430	FOLR1, NCFTD	Folate receptor, alpha	FOLR1	2348	ENSG00000110195	telomeric of FGF3	Neurodegeneration due to cerebral folate transport deficiency, 613068 (3), Autosomal recessive	Folr1 (MGI:95568)
chr11	72216794	72221950	11q13.3-q13.5	11q13.4	136425	FOLR2	Folate receptor, beta	FOLR2	2350	ENSG00000165457	23kb from FOLR1		Folr2 (MGI:95569)
chr11	72223563	72239147	11q23	11q13.4	600829	INPPL1, OPSMD	Inositol polyphosphate phosphatase-like 1	INPPL1	3636	ENSG00000165458		Opsismodysplasia, 258480 (3), Autosomal recessive	Inppl1 (MGI:1333787)
chr11	72239077	72244176	11q13.3-q13.4	11q13.4	602753	PHOX2A, ARIX, CFEOM2	Paired-like homeobox 2a	PHOX2A	401	ENSG00000165462		Fibrosis of extraocular muscles, congenital, 2, 602078 (3), Autosomal recessive	Phox2a (MGI:106633)
chr11	72285495	72434531	11q13.4	11q13.4	616254	CLPB, SKD3, MGCA7, MEGCANN, SCN9, MGCA7A	Caseinolytic peptidase B	CLPB	81570	ENSG00000162129		Neutropenia, severe congenital, 9, autosomal dominant, 619813 (3), Autosomal dominant; 3-methylglutaconic aciduria, type VIIB, autosomal recessive, 616271 (3), Autosomal recessive; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, 619835 (3), Autosomal dominant	Clpb (MGI:1100517)
chr11	72576141	72674422	11q13.4	11q13.4	602658	PDE2A, IDDPADS	Phosphodiesterase 2A	PDE2A	5138	ENSG00000186642		Intellectual developmental disorder with paroxysmal dyskinesia or seizures, 619150 (3), Autosomal recessive	Pde2a (MGI:2446107)
chr11	72615063	72615130	11q13.4	11q13.4	615017	MIR139, MIR139-3p	Micro RNA 139	MIR139	406931	ENSG00000272036			Mir139 (MGI:2676824)
chr11	72685069	72752408	11q13.4	11q13.4	606646	ARAP1, CENTD2, KIAA0782	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	ARAP1	116985	ENSG00000186635			Arap1 (MGI:1916960)
chr11	72754729	72794047	11q13	11q13.4	617382	STARD10	START domain-containing protein 10	STARD10	10809	ENSG00000214530			Stard10 (MGI:1860093)
chr11	72814411	72843740	11q13.4	11q13.4	618716	ATG16L2	Autophagy 16-like 2	ATG16L2	89849	ENSG00000168010			Atg16l2 (MGI:1920933)
chr11	72836745	73142318	11q13.4	11q13.4	617556	FCHSD2, KIAA0769, NWK	FCH and double SH3 domains protein 2	FCHSD2	9873	ENSG00000137478			Fchsd2 (MGI:2448475)
chr11	73218281	73242427	11q13.5	11q13.4	600041	P2RY2, P2Y2, P2U	Purinergic receptor P2Y, G-protein coupled, 2	P2RY2	5029	ENSG00000175591			P2ry2 (MGI:105107)
chr11	73264506	73298625	11q13.5	11q13.4	602451	P2RY6, P2Y6	Pyrimidinergic receptor P2Y, G protein-coupled, 6	P2RY6	5031	ENSG00000171631			P2ry6 (MGI:2673874)
chr11	73308276	73369388	11q13.4	11q13.4	617043	ARHGEF17, RHOGEF17, TEM4, KIAA0337	Rho guanine nucleotide exchange factor 17	ARHGEF17	9828	ENSG00000110237			Arhgef17 (MGI:2673002)
chr11	73376399	73397474	11q13.4	11q13.4	611211	RELT, TNFRSF19L, AI3C	Receptor expressed in lymphoid tissues	RELT	84957	ENSG00000054967		Amelogenesis imperfecta, type IIIC, 618386 (3), Autosomal recessive	Relt (MGI:2443373)
chr11	73400487	73598112	11q13.4	11q13.4	616316	RAM168A, TCRP1, KIAA0280	Family with sequence similarity 168, member A	FAM168A	23201	ENSG00000054965			Fam168a (MGI:2442372)
chr11	73646581	73662819	11q13-q14.1	11q13.4	607651	PLEKHB1, PHR1, KPL1	Pleckstrin homology domain-containing protein, family B, member 1	PLEKHB1	58473	ENSG00000021300			Plekhb1 (MGI:1351469)
chr11	73675638	73761074	11q13.4	11q13.4	179513	RAB6A, RAB6	Oncogene RAB6	RAB6A	5870	ENSG00000175582	previously assigned to 2q14-q21		Rab6a (MGI:894313)
chr11	73787874	73865133	11q13.2	11q13.4	611853	MRPL48	Mitochondrial ribosomal protein L48	MRPL48	51642	ENSG00000175581	pseudogene on 6		Mrpl48 (MGI:1289321)
chr11	73872667	73876846	11q13.4	11q13.4	608016	COA4, CHCHD8, E2IG2	Cytochrome c oxidase assembly factor 4 homolog	COA4	51287	ENSG00000181924			Coa4 (MGI:1915435)
chr11	73876699	73931114	11q13.4	11q13.4	619772	PAAF1	Proteasomal ATPase-associated factor 1	PAAF1	80227	ENSG00000175575			
chr11	73951026	73970281	11q13.3	11q13.4	610263	DNAJB13, TSARG6, CILD34	DNAJ/HSP40 homolog, subfamily B, member 13	DNAJB13	374407	ENSG00000187726		Ciliary dyskinesia, primary, 34, 617091 (3), Autosomal recessive	Dnajb13 (MGI:1916637)
chr11	73974672	73983202	11q13	11q13.4	601693	UCP2, BMIQ4	Uncoupling protein-2	UCP2	7351	ENSG00000175567		{Obesity, susceptibility to, BMIQ4}, 607447 (3)	Ucp2 (MGI:109354)
chr11	74000277	74009085	11q13	11q13.4	602044	UCP3	Uncoupling protein-3	UCP3	7352	ENSG00000175564		{Obesity, severe, and type II diabetes}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant	Ucp3 (MGI:1099787)
chr11	74012718	74171002	11q13.4	11q13.4	615944	C2CD3, OFD14	C2 calcium-dependent domain-containing protein 3	C2CD3	26005	ENSG00000168014		Orofaciodigital syndrome XIV, 615948 (3), Autosomal recessive	C2cd3 (MGI:2142166)
chr11	74171289	74254703	11q13.4	11q13.4	611117	PPME1	Protein phosphatase methylesterase 1	PPME1	51400	ENSG00000214517			Ppme1 (MGI:1919840)
chr11	74250146	74311640	11q12	11q13.4	608987	P4HA3	Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit, isoform 3	P4HA3	283208	ENSG00000149380			P4ha3 (MGI:2444049)
chr11	74330316	74398433	11q13.4	11q13.4	611610	PGM2L1, NEDHFS	Phosphoglucomutase 2-like 1	PGM2L1	283209	ENSG00000165434		Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, 620191 (3), Autosomal recessive	Pgm2l1 (MGI:1918224)
chr11	74454841	74467549	11q13-q14	11q13.4	604433	KCNE3, HOKPP, HYPP	Potassium voltage-gated channel, ISK-related subfamily, member 3	KCNE3	10008	ENSG00000175538	mutation identified in 1 BRGDA6 family	?Brugada syndrome 6, 613119 (3)	Kcne3 (MGI:1891124)
chr11	74490519	74493724	11q13.4	11q13.4	617659	LIPT2	Lipoyl(octanoyl) transferase 2	LIPT2	387787	ENSG00000175536		Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3), Autosomal recessive	Lipt2 (MGI:1914414)
chr11	74592582	74669341	11q13.4	11q13.4	611415	POLD3, KIAA0039, IMD122	Polymerase (DNA-directed), delta 3, accessory subunit	POLD3	10714	ENSG00000077514		Immunodeficiency 122, 620869 (3), Autosomal recessive	Pold3 (MGI:1915217)
chr11	74696429	74731426	11q13.4	11q13.4	613127	CHRDL2, CHL2, BNF1	Chordin-like 2	CHRDL2	25884	ENSG00000054938			Chrdl2 (MGI:1916371)
chr11	74748849	74842413	11q13.4	11q13.4	618650	RNF169, KIAA1991	RING finger protein 169	RNF169	254225	ENSG00000166439			Rnf169 (MGI:1920257)
chr11	74840910	74949091	11q13.3	11q13.4	609788	XRRA1	X-ray radiation resistance-associated 1	XRRA1	143570	ENSG00000166435			Xrra1 (MGI:2181647)
chr11	74949266	74979033	11q13.4	11q13.4	619411	SPCS2, KIAA0102	Signal peptidase complex, subunit 2	SPCS2	9789	ENSG00000118363			Spcs2 (MGI:1913874)
chr11	74980515	75020676	11q13.5	11q13.4	604617	NEU3, SIAL3	Neuraminidase 3 (membrane sialidase; sialidase 3)	NEU3	10825	ENSG00000162139			Neu3 (MGI:1355305)
chr11	75151107	75206549	Chr.11	11q13.4	604988	SLC21A9, OATPB	Solute carrier family 21 (organic anion transporter), member 9	SLCO2B1	11309	ENSG00000137491			Slco2b1 (MGI:1351872)
chr11	75260122	75351661	11q13	11q13.4	107940	ARRB1	Arrestin, beta 1	ARRB1	408	ENSG00000137486			Arrb1 (MGI:99473)
chr11	75335092	75335186	11q13	11q13.4	613755	MIR326, MIRN326	Micro RNA 326	MIR326	442900	ENSG00000199090			Mir326 (MGI:3619338)
chr11	75399518	75422302	11q13.3-q13.5	11q13.4	600454	RPS3	Ribosomal protein S3	RPS3	6188	ENSG00000149273			Rps3 (MGI:1350917)
chr11	75400391	75400538	11q13.3-q13.5	11q13.4	600455	RNU15A	RNA, U15a small nucleolar	SNORD15A	6079	ENSG00000206941	processed from intron of RPS3		
chr11	75434640	75525941	11q13.4-q13.5	11q13.4-q13.5	609632	GDPD5, GDE2, PP1665	Glycerophosphodiester phosphodiesterase domain-containing protein 3	GDPD5	81544	ENSG00000158555			Gdpd5 (MGI:2686926)
chr11	75500001	77400000	11q13.5		613064	ATOD7	Dermatitis, atopic, 7		100310755		associated with rs7927894	{Dermatitis, atopic, susceptibility to, 7}, 613064 (2)	
chr11	75562253	75572783	11q13.5	11q13.5	600943	SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10	Serpin peptidase inhibitor, clade H, member 1	SERPINH1	871	ENSG00000149257		{Preterm premature rupture of the membranes, susceptibility to}, 610504 (3), Multifactorial; Osteogenesis imperfecta, type X, 613848 (3), Autosomal recessive	Serpinh1 (MGI:88283)
chr11	75586918	75669038	11q13.5	11q13.5	601783	MAP6, MTAP6, STOP, KIAA1878	Microtubule-associated protein 6	MAP6	4135	ENSG00000171533			Map6 (MGI:1201690)
chr11	75717838	75732953	11q13.5	11q13.5	610270	MOGAT2, MGAT2	Monoacylglycerol O-acyltransferase 2	MOGAT2	80168	ENSG00000166391			Mogat2 (MGI:2663253)
chr11	75768778	75801534	11q13.5	11q13.5	606983	DGAT2	Diacylglycerol O-acyltransferase 2	DGAT2	84649	ENSG00000062282			Dgat2 (MGI:1915050)
chr11	75815210	76144232	11q13	11q13.5	602493	UVRAG	UV radiation resistance-associated gene	UVRAG	7405	ENSG00000198382			Uvrag (MGI:1925860)
chr11	76186325	76210761	11q13.5	11q13.5	603699	WNT11	Wingless-type MMTV integration site family, member 11	WNT11	7481	ENSG00000085741			Wnt11 (MGI:101948)
chr11	76349956	76381132	11q13.5	11q13.5	607374	PRKRIR	PRKR inhibitor, repressor of	THAP12	5612	ENSG00000137492			Thap12 (MGI:1920231)
chr11	76445018	76553031	11q13.4-q13.5	11q13.5	608574	EMSY, C11orf30	EMSY transcriptional repressor, BRCA2 interacting	EMSY	56946	ENSG00000158636	100kb from GARP		Emsy (MGI:1924203)
chr11	76657524	76670747	11q13.5	11q13.5	137207	LRRC32, GARP, D11S833E, CPPRDD	Leucine rich repeat containing 32	LRRC32	2615	ENSG00000137507		Cleft palate, proliferative retinopathy, and developmental delay, 619074 (3), Autosomal recessive	Lrrc32 (MGI:93882)
chr11	76782280	76798144	11q13.5	11q13.5	608015	TSKU, E2IG4, TSK	Tsukushin	TSKU	25987	ENSG00000182704			Tsku (MGI:2443855)
chr11	76860918	77026797	11q13.5	11q13.5	617036	ACER3, APHC, PHCA, PLDECO	Alkaline ceramidase 3	ACER3	55331	ENSG00000078124	mutation identified in 1 PLDECO family	?Leukodystrophy, progressive, early childhood-onset, 617762 (3), Autosomal recessive	Acer3 (MGI:1913440)
chr11	77034398	77041973	11q14	11q13.5	615315	B3GNT6	Beta-1,3-N-acetylglucosaminyltransferase 6	B3GNT6	192134	ENSG00000198488			B3gnt6 (MGI:3039603)
chr11	77066971	77126155	11q14	11q13.5	602537	CAPN5, HTRA3, VRNI	Calpain 5	CAPN5	726	ENSG00000149260		Vitreoretinopathy, neovascular inflammatory, 193235 (3), Autosomal dominant	Capn5 (MGI:1100859)
chr11	77102840	77103331	11q13.4-q14.1	11q13.5	164340	OMP	Olfactory marker protein	OMP	4975	ENSG00000254550			Omp (MGI:97436)
chr11	77128246	77215241	11q13.5	11q13.5	276903	MYO7A, USH1B, DFNB2, DFNA11	Myosin VIIA	MYO7A	4647	ENSG00000137474		Deafness, autosomal recessive 2, 600060 (3), Autosomal recessive; Usher syndrome, type 1B, 276900 (3), Autosomal recessive; Deafness, autosomal dominant 11, 601317 (3), Autosomal dominant	Myo7a (MGI:104510)
chr11	77322017	77530009	11q13-q14	11q13.5-q14.1	602590	PAK1, IDDMSSD	p21/CDC42/RAC1-activated kinase 1	PAK1	5058	ENSG00000149269		Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158 (3), Autosomal dominant	Pak1 (MGI:1339975)
chr11	77400001	93000000	11q14		610888	GCRG224	Gastric cancer-related gene 224		360219				
chr11	77400001	110600000	11q14-q22		612017	IHPS3	Pyloric stenosis, infantile hypertrophic, 3		100188876		max lod at rs541821	Pyloric stenosis, infantile hypertrophic, 3, 612017 (2)	
chr11	77400001	97400000	11q14-q21		603342	SCZD2	Schizophrenia susceptibility locus, chromosome 11-related		6378			{?Schizophrenia}, 181500 (2), Autosomal dominant	
chr11	77400001	93000000	11q14		607279	SLEH1	Systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1		170682			{Systemic lupus erythematosus with hemolytic anemia}, 607279 (2)	
chr11	77589953	77610356	11q14	11q14.1	609914	AQP11, AQPX1	Aquaporin 11	AQP11	282679	ENSG00000178301			Aqp11 (MGI:1913583)
chr11	77614530	77637794	11q13.5-q14.1	11q14.1	602158	CLNS1A, CLNS1B	Chloride channel, nucleotide-sensitive, 1A	CLNS1A	1207	ENSG00000074201	CLNS1B on 6p12.1-q13 = pseudogene?		Clns1a (MGI:109638)
chr11	77660009	77872232	11q13	11q14.1	608522	HBXAP, RSF1	Hepatitis B virus X-associated protein	RSF1	51773	ENSG00000048649			Rsf1 (MGI:2682305)
chr11	77821144	77906024	11q14.1	11q14.1	620474	AAMDC	Adipogenesis-associated MTH938 domain-containing protein	AAMDC	28971	ENSG00000087884			Aamdc (MGI:1913523)
chr11	77874362	77994668	11q14.1	11q14.1	611348	INTS4, INT4	Integrator complex subunit 4	INTS4	92105	ENSG00000149262			Ints4 (MGI:1917164)
chr11	78063861	78068351	11q13.5	11q14.1	601926	THRSP	Thyroid hormone-responsive protein	THRSP	7069	ENSG00000151365			Thrsp (MGI:109126)
chr11	78068297	78079862	11q14.1	11q14.1	603845	NDUFC2, MC1DN36	NADH-ubiquinone oxidoreductase subunit C2	NDUFC2	4718	ENSG00000151366		Mitochondrial complex I deficiency, nuclear type 36, 619170 (3), Autosomal recessive	Ndufc2 (MGI:1344370)
chr11	78100946	78139626	11pter-p15.5	11q14.1	608103	ALG8, CDG1H, PCLD3	ALG8 alpha-1,3-glucosyltransferase	ALG8	79053	ENSG00000159063		Congenital disorder of glycosylation, type Ih, 608104 (3), Autosomal recessive; Polycystic liver disease 3 with or without kidney cysts, 617874 (3), Autosomal dominant	Alg8 (MGI:2141959)
chr11	78171249	78188626	11q14.1	11q14.1	618790	KCTD21, KCASH2	Potassium channel tetramerization domain-containing protein 21	KCTD21	283219	ENSG00000188997			Kctd21 (MGI:3643121)
chr11	78188919	78237219	11q14.1	11q14.1	620959	USP35	Ubiquitin-specific peptidase 35	USP35	57558	ENSG00000118369			Usp35 (MGI:2685339)
chr11	78215293	78417820	11q13.4-q13.5	11q14.1	606203	GAB2	GRB2-associated binding protein 2	GAB2	9846	ENSG00000033327			Gab2 (MGI:1333854)
chr11	78435968	78574864	11q14.1	11q14.1	612803	NARS2, COXPD24, DFNB94	Asparaginyl-tRNA synthetase 2	NARS2	79731	ENSG00000137513	mutation identified in 1 DFNB94 family	Combined oxidative phosphorylation deficiency 24, 616239 (3), Autosomal recessive; ?Deafness, autosomal recessive 94, 618434 (3), Autosomal recessive	Nars2 (MGI:2142075)
chr11	78652829	79441030	11q14.1	11q14.1	610084	TENM4, ODZ4, TNM4, DOC4, KIAA1302, ETM5	Teneurin transmembrane protein 4	TENM4	26011	ENSG00000149256		Essential tremor, hereditary, 5, 616736 (3), Autosomal dominant	Tenm4 (MGI:2447063)
chr11	79402022	79402109	11q14.1	11q14.1	620733	MIR708	Micro RNA 708	MIR708	100126333	ENSG00000211997			Mir708 (MGI:3629686)
chr11	82822936	82901644	11q14	11q14.1	176785	PRCP, PCP	Prolylcarboxypeptidase (angiotensinase C)	PRCP	5547	ENSG00000137509			Prcp (MGI:1919711)
chr11	82901736	82934659	11q14.1	11q14.1	618045	DDIAS, NOXIN, C11orf82	DNA damage-induced apoptosis suppressor	DDIAS	220042	ENSG00000165490			Ddias (MGI:1921291)
chr11	82973133	83071897	11q12-q14	11q14.1	605693	RAB30	Ras-associated protein RAB30	RAB30	27314	ENSG00000137502			Rab30 (MGI:1923235)
chr11	83157131	83187451	11q14.1	11q14.1	608876	PCF11, KIAA0824	PCF11, yeast, homolog of	PCF11	51585	ENSG00000165494			Pcf11 (MGI:1919579)
chr11	83193712	83256099	11q14	11q14.1	619778	ANKRD42, SARP	Ankyrin repeat domain-containing protein 42	ANKRD42	338699	ENSG00000137494			Ankrd42 (MGI:1921095)
chr11	83259081	83286367	11q14.1	11q14.1	620753	CCDC90B	Coiled-coil domain-containing protein 90B	CCDC90B	60492	ENSG00000137500			Ccdc90b (MGI:1913615)
chr11	83455012	85628373	11q21	11q14.1	603583	DLG2	Discs large MAGUK scaffold protein 2	DLG2	1740	ENSG00000150672			Dlg2 (MGI:1344351)
chr11	85628573	85636540	11q14.1	11q14.1	615533	TMEM126B, MC1DN29	Transmembrane protein 126B	TMEM126B	55863	ENSG00000171204		Mitochondrial complex I deficiency, nuclear type 29, 618250 (3), Autosomal recessive	Tmem126b (MGI:1915722)
chr11	85647967	85656542	11q14.1-q21	11q14.1	612988	TMEM126A, OPA7	Transmembrane protein 126A	TMEM126A	84233	ENSG00000171202		Optic atrophy 7, 612989 (3), Autosomal recessive	Tmem126a (MGI:1913521)
chr11	85657990	85682863	11q14.1	11q14.1	606444	CREBZF, ZF	CREB/ATF bZIP transcription factor	CREBZF	58487	ENSG00000137504			Crebzf (MGI:2675296)
chr11	85694229	85854870	11q14	11q14.1	612880	SYTL2, SLP2, SLP2A, EXO4, KIAA1597	Synaptotagmin-like 2	SYTL2	54843	ENSG00000137501			Sytl2 (MGI:1933366)
chr11	85957175	86069860	11q14	11q14.2	603025	PICALM, CALM, CLTH, LAP	Phosphatidylinositol-binding clathrin assembly protein	PICALM	8301	ENSG00000073921	fuses with AF10 in t(10;11)	Leukemia, acute myeloid, somatic, 601626 (3)	Picalm (MGI:2385902)
chr11	86244753	86287615	11q14.2-q22.3	11q14.2	605984	EED, WAIT1, COGIS	Embryonic ectoderm development protein	EED	8726	ENSG00000074266		Cohen-Gibson syndrome, 617561 (3), Autosomal dominant	Eed (MGI:95286)
chr11	86302240	86345943	11q14.2	11q14.2	614908	HIKESHI, C11orf73, HLD13	Hikeshi	HIKESHI	51501	ENSG00000149196		Leukodystrophy, hypomyelinating, 13, 616881 (3), Autosomal recessive	Hikeshi (MGI:96738)
chr11	86434930	86672616	11cen-q22.3	11q14.2	604626	ME3	Malic enzyme 3	ME3	10873	ENSG00000151376			Me3 (MGI:1916679)
chr11	86791071	86952910	11q14.1	11q14.2	618376	PRSS23	Protease, serine, 23	PRSS23	11098	ENSG00000150687			Prss23 (MGI:1923703)
chr11	86945679	86955395	11q14-q21	11q14.2	604579	FZD4, EVR1	Frizzled, Drosophila, homolog of, 4	FZD4	8322	ENSG00000174804		Retinopathy of prematurity, 133780 (3), Autosomal dominant; Exudative vitreoretinopathy 1, 133780 (3), Autosomal dominant	Fzd4 (MGI:108520)
chr11	87037934	87328824	11q14.2	11q14.2	616360	TMEM135, PMP52	Transmembrane protein 135	TMEM135	65084	ENSG00000166575			Tmem135 (MGI:1920009)
chr11	87803715	88175443	11q13.5-q22.3	11q14.2	606281	RAB38	Ras-family, member RAB38	RAB38	23682	ENSG00000123892			Rab38 (MGI:1919683)
chr11	88293592	88337736	11q14.1-q14.3	11q14.2	602365	CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD	Cathepsin C	CTSC	1075	ENSG00000109861		Periodontitis 1, juvenile, 170650 (3), Autosomal recessive; Haim-Munk syndrome, 245010 (3), Autosomal recessive; Papillon-Lefevre syndrome, 245000 (3), Autosomal recessive	Ctsc (MGI:109553)
chr11	88504642	89065982	11q14.2-q14.3	11q14.2-q14.3	604102	GRM5, MGLUR5	Glutamate receptor, metabotropic, 5	GRM5	2915	ENSG00000168959			Grm5 (MGI:1351342)
chr11	89177875	89295759	11q14-q21	11q14.3	606933	TYR, SHEP3, CMM8, OCA1A, ATN	Tyrosinase	TYR	7299	ENSG00000077498		[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3), Autosomal dominant; [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3), Autosomal dominant; Albinism, oculocutaneous, type IB, 606952 (3), Autosomal recessive; Albinism, oculocutaneous, type IA, 203100 (3), Autosomal recessive	Tyr (MGI:98880)
chr11	89324353	89589557	11q14.2-q21	11q14.3	605261	NOX4, RENOX	NADPH oxidase 4	NOX4	50507	ENSG00000086991			Nox4 (MGI:1354184)
chr11	89659268	89698718	11p13-p11.1	11q14.3	609020	FOLH1B, PSMAL, GCP3	Folate hydrolase 1B	FOLH1B	219595				Folh1 (MGI:1858193)
chr11	89766451	89808575	11p11.12-q12	11q14.3	606124	RNF18	RING finger protein-18	TRIM49	57093	ENSG00000168930			Trim43a,Trim43b,Trim43c (MGI:3645218,MGI:3647365,MGI:3648996)
chr11	90085950	90087131	11q14.3	11q14.3	613696	UBTFL1, HMGPI	Upstream binding transcription factor (RNA polymerase I)-like 1	UBTFL1	642623	ENSG00000255009			Ubtfl1 (MGI:3588290)
chr11	90131699	90192894	11q14.3-q21	11q14.3	611636	NAALAD2	N-acetylated alpha-linked acidic dipeptidase 2	NAALAD2	10003	ENSG00000077616			Naalad2 (MGI:1919810)
chr11	90200429	90223049	11q14.3	11q14.3	604353	CHRODC1, CHP1	Cysteine- and histidine-rich domain-containing protein 1	CHORDC1	26973	ENSG00000110172			Chordc1 (MGI:1914167)
chr11	92224818	92896473	11q14.3-q21	11q14.3	612483	FAT3	FAT atypical cadherin 3	FAT3	120114	ENSG00000165323			Fat3 (MGI:2444314)
chr11	92969651	92984960	11q21-q22	11q14.3	600804	MTNR1B	Melatonin receptor 1B	MTNR1B	4544	ENSG00000134640		{Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant	Mtnr1b (MGI:2181726)
chr11	93000001	110600000	11q21-q22		613233	FGQTL3	Fasting plasma glucose level QTL 3		100379217		associated with rs10830963	[Fasting plasma glucose level QTL 3], 613233 (2)	
chr11	93144174	93197991	11q14.3	11q21	613760	SLC36A4, PAT4	Solute carrier family 36, member 4	SLC36A4	120103	ENSG00000180773			Slc36a4 (MGI:2442595)
chr11	93329998	93438470	11q21	11q21	617148	DEUP1, CCDC67	Deuterosome assembly protein 1	DEUP1	159989	ENSG00000165325			Deup1 (MGI:2443026)
chr11	93478472	93553979	11q21	11q21	609477	C11orf75, FN5	FN5, pufferfish, homolog of	SMCO4	56935	ENSG00000166002			Smco4 (MGI:3039636)
chr11	93661682	93730358	11q21	11q21	617728	CEP295, KIAA1731, SCKL11	Centrosomal protein, 295kD	CEP295	85459	ENSG00000166004		Seckel syndrome 11, 620767 (3), Autosomal recessive	Cep295 (MGI:2442521)
chr11	93730194	93741495	11q21	11q21	612823	TAF1D, RAFI41, JOSD3	TATA box-binding protein-associated factor 1D	TAF1D	79101	ENSG00000166012			Taf1d (MGI:1922566)
chr11	93741672	93764749	11q21	11q21	615810	C11orf54, PTOD012	Chromosome 11 open reading frame 54	C11orf54	28970	ENSG00000182919			4931406C07Rik (MGI:1918234)
chr11	93784282	93814963	11q21	11q21	603810	MED17, CRSP6, CRSP77, TRAP80, DRIP80	Mediator complex subunit 17	MED17	9440	ENSG00000042429		Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3), Autosomal recessive	Med17 (MGI:2182585)
chr11	93818232	93850618	11q21	11q21	621118	VSTM5	V-set and transmembrane domains-containing protein 5	VSTM5	387804	ENSG00000214376			
chr11	94021354	94114208	11q21	11q21	618455	HEPHL1, ZP, HJDD	Hephaestin-like protein 1	HEPHL1	341208	ENSG00000181333	mutation identified in 1 HJDD patient	?Abnormal hair, joint laxity, and developmental delay, 261990 (3), Autosomal recessive	Hephl1 (MGI:2685355)
chr11	94128841	94181968	11q21	11q21	608420	PANX1, PX1, OZEMA7	Pannexin 1	PANX1	24145	ENSG00000110218		Oocyte/zygote/embryo maturation arrest 7, 618550 (3), Autosomal dominant	Panx1 (MGI:1860055)
chr11	94304580	94308146	11q21	11q21	615737	IZUMO1R, FOLR4	Izumo1 receptor, Juno	IZUMO1R	390243	ENSG00000183560			Izumo1r (MGI:1929185)
chr11	94377316	94401419	11q21	11q21	605569	GPR83, GIR, GPR72	G protein-coupled receptor 83	GPR83	10888	ENSG00000123901			Gpr83 (MGI:95712)
chr11	94415570	94512412	11q21	11q21	600814	MRE11A, MRE11, ATLD	MRE11 homolog, double-strand break repair nuclease	MRE11	4361	ENSG00000020922		Ataxia-telangiectasia-like disorder 1, 604391 (3), Autosomal recessive	Mre11a (MGI:1100512)
chr11	94493984	94499578	11q21	11q21	619571	ANKRD49, FGIF	Ankyrin repeat domain-containing protein 49	ANKRD49	54851	ENSG00000168876			Ankrd49 (MGI:1930842)
chr11	94543921	94549895	11q21	11q21	104230	FUT4, FCT3A, CD15	Fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	FUT4	2526	ENSG00000196371			Fut4 (MGI:95594)
chr11	94567368	94621421	11q12	11q21	610315	PIWI-like RNA-mediated gene silencing 4	PIWI-like 4	PIWIL4	143689	ENSG00000134627			Piwil4 (MGI:3041167)
chr11	94706460	94876748	11q21	11q21	614657	AMOTL1, JEAP	Angiomotin-like 1	AMOTL1	154810	ENSG00000166025			Amotl1 (MGI:1922973)
chr11	94973709	94999519	11q21	11q21	609766	KDM4D, JMJD2D	Lysine demethylase 4D	KDM4D	55693	ENSG00000186280			Kdm4d (MGI:3606484)
chr11	95025258	95027596	11q21	11q21	616581	KDM4E, JMJD2E	Lysine demethylase 4E	KDM4E	390245	ENSG00000235268			
chr11	95066877	95071225	11q22	11q21	603269	SRSF8, SFRS2B, SRp46	Splicing factor, arginine/serine-rich, 8	SRSF8	10929	ENSG00000263465			Srsf19 (MGI:3045300)
chr11	95089846	95132645	11q21	11q21	619568	ENDOD1, KIAA0830	Endonuclease domain-containing protein 1	ENDOD1	23052	ENSG00000149218			Endod1 (MGI:1919196)
chr11	95165513	95232475	11q21	11q21	607768	SEST3	Sestrin 3	SESN3	143686	ENSG00000149212			Sesn3 (MGI:1922997)
chr11	95790498	95832693	11q21	11q21	607951	CEP57, PIG8, TSP57, KIAA0092, MVA2	Centrosomal protein 57kD	CEP57	9702	ENSG00000166037		Mosaic variegated aneuploidy syndrome 2, 614114 (3), Autosomal recessive	Cep57 (MGI:1915551)
chr11	95832880	95924107	11q22	11q21	603557	MTMR2, CMT4B1	Myotubularin-related protein 2	MTMR2	8898	ENSG00000087053		Charcot-Marie-Tooth disease, type 4B1, 601382 (3), Autosomal recessive	Mtmr2 (MGI:1924366)
chr11	95976598	96343195	11q21	11q21	607537	MAML2, MAM3	Mastermind-like 2	MAML2	84441	ENSG00000184384	t(11;19)	Mucoepidermoid salivary gland carcinoma (3)	Maml2 (MGI:2389460)
chr11	96341438	96341526	11q21	11q21	615372	MIR1260B	Micro RNA 1260B	MIR1260B	100422991	ENSG00000266192			
chr11	96352773	96389912	11q21	11q21	619870	CCDC82, HSPC048	Coiled-coil domain-containing protein 82	CCDC82	79780	ENSG00000149231			Ccdc82 (MGI:1913646)
chr11	96390013	96393561	11q21	11q21	603211	JRKL, HHMJG	JRK-like protein	JRKL	8690	ENSG00000183340			Jrkl (MGI:1924782)
chr11	97400001	135086622	11q22-qter		105580	ANC	Anal canal carcinoma		8066		3p22 also deleted	?Anal canal carcinoma, 105580 (2), Autosomal dominant	
chr11	99020949	100358885	11q21-q22.2	11q22.1	607219	CNTN5, NB2	Contactin 5	CNTN5	53942	ENSG00000149972			Cntn5 (MGI:3042287)
chr11	100687288	100993941	11q22.1	11q22.1	615936	ARHGAP42, GRAF3	Rho GTPase-activating protein 42	ARHGAP42	143872	ENSG00000165895			Arhgap42 (MGI:1918794)
chr11	101029624	101129813	11q22	11q22.1	607311	PGR	Progesterone receptor	PGR	5241	ENSG00000082175	11q13 = earlier regionalization	?Progesterone resistance, 264080 (2), Autosomal recessive	Pgr (MGI:97567)
chr11	101451564	101584007	11q21-q22	11q22.1	603652	TRPC6, TRP6, FSGS2	Transient receptor potential channel-6	TRPC6	7225	ENSG00000137672		Glomerulosclerosis, focal segmental, 2, 603965 (3), Autosomal dominant	Trpc6 (MGI:109523)
chr11	101890674	101916522	11q22	11q22.1	607666	ANGPTL5	Angiopoietin-like 5	ANGPTL5	253935	ENSG00000187151			
chr11	101915010	102001062	11q22.1	11q22.1	614634	KIAA1377	KIAA1377 gene	CEP126	57562	ENSG00000110318			Cep126 (MGI:2680221)
chr11	102047437	102084554	11q22.11	11q22.1	618058	CFAP300, C11orf70, CILD38	Cilia- and flagella-associated protein 300	CFAP300	85016	ENSG00000137691		Ciliary dyskinesia, primary, 38, 618063 (3), Autosomal recessive	Cfap300 (MGI:3045346)
chr11	102110447	102233424	11q13	11q22.1	606608	YAP1, COB1	YES1-associated transcriptional regulator	YAP1	10413	ENSG00000137693		Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development, 120433 (3), Autosomal dominant	Yap1 (MGI:103262)
chr11	102317484	102339403	11q22-q23	11q22.2	601721	API2, HAIP1	Apoptosis inhibitor-2	BIRC3	330	ENSG00000023445	fused with MALT1 in MALT lymphoma		Birc3 (MGI:1197007)
chr11	102347214	102378670	11q22-q23	11q22.2	601712	API1, HIAP2	Apoptosis inhibitor-1	BIRC2	329	ENSG00000110330			Birc2 (MGI:1197009)
chr11	102396332	102452765	11q22.1	11q22.2	606356	TMEM123, PORIMIN	Transmembrane protein 123	TMEM123	114908	ENSG00000152558			Tmem123 (MGI:1919179)
chr11	102520508	102530747	11q21-q22	11q22.2	178990	MMP7	Matrix metalloproteinase 7 (matrilysin, uterine)	MMP7	4316	ENSG00000137673			Mmp7 (MGI:103189)
chr11	102576832	102625332	11q22.3-q23	11q22.2	604629	MMP20, AI2A2	Matrix metalloproteinase-20 (enamelysin)	MMP20	9313	ENSG00000137674		Amelogenesis imperfecta, type IIA2, 612529 (3), Autosomal recessive	Mmp20 (MGI:1353466)
chr11	102691487	102705769	11q22.2	11q22.2	618101	MMP27	Matrix metalloproteinase 27	MMP27	64066	ENSG00000137675			Mmp27 (MGI:3039232)
chr11	102711796	102724954	11q21-q22	11q22.2	120355	MMP8, CLG1	Matrix metalloproteinase 8 (neutrophil collagenase)	MMP8	4317	ENSG00000118113			Mmp8 (MGI:1202395)
chr11	102770502	102780628	11q22.3-q23	11q22.2	185260	MMP10, STMY2	Matrix metalloproteinase 10 (stromelysin 2)	MMP10	4319	ENSG00000166670			Mmp10 (MGI:97007)
chr11	102789919	102798160	11q22-q23	11q22.2	120353	MMP1, CLG	Matrix metalloproteinase 1 (interstitial collagenase)	MMP1	4312	ENSG00000196611			Mmp1a,Mmp1b (MGI:1933846,MGI:1933847)
chr11	102835801	102843609	11q23	11q22.2	185250	MMP3, STMY1, CHDS6	Matrix metalloproteinase 3 (stromelysin 1, progelatinase)	MMP3	4314	ENSG00000149968		{Coronary heart disease, susceptibility to, 6}, 614466 (3)	Mmp3 (MGI:97010)
chr11	102862736	102874982	11q22.2-q22.3	11q22.2	601046	MMP12	Matrix metalloproteinase 12 (macrophage elastase)	MMP12	4321	ENSG00000262406			Mmp12 (MGI:97005)
chr11	102942995	102955732	11q22.3	11q22.2	600108	MMP13, CLG3, MANDP1, MDST	Matrix metalloproteinase 13 (collagenase 3)	MMP13	4322	ENSG00000137745	mutation identified in 1 SEMDM family	?Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3), Autosomal dominant; Metaphyseal anadysplasia 1, 602111 (3), Autosomal dominant; Metaphyseal dysplasia, Spahr type, 250400 (3), Autosomal recessive	Mmp13 (MGI:1340026)
chr11	103050686	103092160	11q22.3	11q22.3	616522	DCUN1D5, SCCRO5	DCN1 domain-containing protein 5	DCUN1D5	84259	ENSG00000137692			Dcun1d5 (MGI:1924113)
chr11	103109426	103479863	11q22.3	11q22.3	603297	DYNC2H1, DNCH2, DHC2, ATD3, SRPS2B, SRTD3	Dynein, cytoplasmic-2, heavy chain-1	DYNC2H1	79659	ENSG00000187240	1 patient showed heterozygous NEK2 and DYNC2H1 mutations	Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3), Digenic recessive, Autosomal recessive	Dync2h1 (MGI:107736)
chr11	103907189	104164147	11q22.3	11q22.3	609673	PDGFD, SCDGFB, IEGF	Platelet-derived growth factor D	PDGFD	80310	ENSG00000170962			Pdgfd (MGI:1919035)
chr11	104036640	104039196	11q22.3	11q22.3	620870	DDI1	DNA damage-inducible 1 homolog 1	DDI1	414301	ENSG00000170967			Ddi1 (MGI:1919079)
chr11	104883286	104898460	11q22.3	11q22.3	608633	CASP12, CASP12P1	Caspase 12, apoptosis-related cysteine protease	CASP12	100506742			{Sepsis, susceptibility to} (3)	Casp12 (MGI:1312922)
chr11	104942866	104968574	11q22.2-q22.3	11q22.3	602664	CASP4	Caspase 4, apoptosis-related cysteine protease	CASP4	837	ENSG00000196954			Casp4 (MGI:107700)
chr11	104994243	105023168	11q22.2-q22.3	11q22.3	602665	CASP5	Caspase 5, apoptosis-related cysteine protease	CASP5	838	ENSG00000137757			Casp4 (MGI:107700)
chr11	105025443	105036686	11q22.2-q22.3	11q22.3	147678	CASP1, IL1BC	Caspase 1, apoptosis-related cysteine protease (interleukin-1, beta convertase)	CASP1	834	ENSG00000137752			Casp1 (MGI:96544)
chr11	105041563	105045335	11q22	11q22.3	615680	CARD16, COP1	Caspase recruitment domain-containing protein 16	CARD16	114769	ENSG00000204397			
chr11	105080453	105101459	11q22	11q22.3	609490	INCA	Inhibitory caspase recruitment domain protein	CARD17P	440068				
chr11	105137714	105139769	11q22.3	11q22.3	605354	CARD18, ICEBERG	Caspase recruitment domain-containing protein 18	CARD18	59082	ENSG00000255501			
chr11	105609616	105982090	11q22-q23	11q22.3	138246	GRIA4, GLUR4, NEDSGA	Glutamate receptor, ionotropic, AMPA 4	GRIA4	2893	ENSG00000152578		Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3), Autosomal dominant	Gria4 (MGI:95811)
chr11	106077662	106098695	11q22.3	11q22.3	607756	AASDHPPT	Alpha-aminoadipate semialdehyde dehydrogenase-phosphopantetheinyl transferase	AASDHPPT	60496	ENSG00000149313			Aasdhppt (MGI:1914868)
chr11	106674019	107018476	11q21-q22	11q22.3	601244	GUCY1A2, GUC1A2	Guanylate cyclase 1, soluble, alpha 2	GUCY1A2	2977	ENSG00000152402			Gucy1a2 (MGI:2660877)
chr11	107502727	107565735	11q22.3	11q22.3	613306	ALKBH8, ABH8, MRT71	AlkB homolog 8, tRNA methyltransferase	ALKBH8	91801	ENSG00000137760		Intellectual developmental disorder, autosomal recessive 71, 618504 (3), Autosomal recessive	Alkbh8 (MGI:1914917)
chr11	107591147	107666779	11q22.3	11q22.3	615456	ELMOD1	ELMO/CED12 domain-containing protein 1	ELMOD1	55531	ENSG00000110675			Elmod1 (MGI:3583900)
chr11	107707378	107712056	11q22-q23	11q22.3	602203	SLN	Sarcolipin	SLN	6588	ENSG00000170290			Sln (MGI:1913652)
chr11	107790991	107858787	11q22.3	11q22.3	620350	SLC35F2	Solute carrier family 35, member F2	SLC35F2	54733	ENSG00000110660			Slc35f2 (MGI:1919272)
chr11	107928448	107963482	11q22.3	11q22.3	619558	RAB39A, K28	RAB39A, member Ras oncogene family	RAB39A	54734	ENSG00000179331			Rab39 (MGI:2442855)
chr11	108008898	108107761	11q22-q23	11q22.3	601741	CUL5, VACM1	Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1)	CUL5	8065	ENSG00000166266			Cul5 (MGI:1922967)
chr11	108116705	108147603	11q22.3-q23.1	11q22.3	607809	ACAT1	Acetyl-Coenzyme A acetyltransferase-1 (acetoacetyl Coenzyme A thiolase)	ACAT1	38	ENSG00000075239	cluster: cen-STMY2-CLG-STMY1-ter	Alpha-methylacetoacetic aciduria, 203750 (3), Autosomal recessive	Acat1 (MGI:87870)
chr11	108157215	108222638	11q22.3	11q22.3	601448	NPAT, E14	Nuclear protein, ataxia-telangiectasia locus	NPAT	4863	ENSG00000149308			Npat (MGI:107605)
chr11	108223067	108369102	11q22.3	11q22.3	607585	ATM, ATA, AT1	ATM serine/threonine kinase	ATM	472	ENSG00000149311		Lymphoma, B-cell non-Hodgkin, somatic (3); Ataxia-telangiectasia, 208900 (3), Autosomal recessive; {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; T-cell prolymphocytic leukemia, somatic (3); Lymphoma, mantle cell, somatic (3)	Atm (MGI:107202)
chr11	108472116	108498384	11q22.3	11q22.3	618503	POGLUT3, KDELC2	Protein O-glucosyltransferase 3	POGLUT3	143888	ENSG00000178202			Poglut3 (MGI:1923765)
chr11	108505435	108607536	11q22.3	11q22.3	612878	EXPH5, SLAC2B, KIAA0624, EBS4	Exophilin 5	EXPH5	23086	ENSG00000110723		Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, 615028 (3), Autosomal recessive	Exph5 (MGI:2443248)
chr11	108665069	108940927	11q22-q23	11q22.3	601235	DDX10	DEAD-box helicase 10	DDX10	1662	ENSG00000178105	400kb telomeric to ATM; pseudogene on 9q21-q22; fused with NUP98 in AML		Ddx10 (MGI:1924841)
chr11	110093392	110171841	11q22.3	11q22.3	615001	ZC3H12C, MCPIP3	Zinc finger CCCH domain-containing protein 12C	ZC3H12C	85463	ENSG00000149289			Zc3h12c (MGI:3026959)
chr11	110174922	110296614	11q23	11q22.3	179410	RDX, DFNB24	Radixin	RDX	5962	ENSG00000137710		Deafness, autosomal recessive 24, 611022 (3), Autosomal recessive	Rdx (MGI:97887)
chr11	110429331	110464884	11q22	11q22.3	103260	FDX1, ADX	Ferredoxin-1 (adrenodoxin)	FDX1	2230	ENSG00000137714	pseudogene on 20q11-q12		Fdx1 (MGI:103224)
chr11	110577043	110713189	11q22.3-q23.1	11q22.3-q23.1	609568	ARHGAP20, KIAA1391	Rho GTPase-activating protein 20	ARHGAP20	57569	ENSG00000137727			Arhgap20 (MGI:2445175)
chr11	110600001	130900000	11q23-q24		612629	ADIPQTL4	Adiponectin, serum level of, quantitative trait locus locus 4		100271698		between D11S925 and D11S968	{Adiponectin, serum level of, QTL4}, 612629 (2)	
chr11	110600001	121300000	11q23		620058	APOGCDS	Familial apolipoprotein gene cluster deletion syndrome					Familial apolipoprotein gene cluster deletion syndrome, 620058 (4), Autosomal dominant	
chr11	110600001	121300000	11q23		609354	BMND5	Bone mineral density QTL 5		554315		between D11S901 and D11S925	[Bone mineral density QTL 5], 609354 (2)	
chr11	110600001	121300000	11q23		612232	CRCS7	Colorectal cancer, susceptibility to, 7		100187711		associated with rs3802842	{Colorectal cancer, susceptibility to, 7}, 612232 (2)	
chr11	110600001	121300000	11q23		613387	FLD1, NAFLD2	Fatty liver disease, susceptibility to, 2		100462725		associated with rs2854116, rs2854117	{Fatty liver disease, susceptibility to, 2}, 613387 (2), Multifactorial	
chr11	110600001	121300000	11q23		188025	TCPT	Thrombocytopenia, Paris-Trousseau type (deletion 11q23 syndrome)				contiguous gene deletion of 11q23	?Thrombocytopenia, Paris-Trousseau type, 188025 (4), Isolated cases	
chr11	110600001	121300000	11q23		603040	TSG11	Tumor suppressor gene on chromosome 11		50970			{Nonsmall cell lung cancer}, 603040 (2)	
chr11	110600001	114600000	11q23.1-q23.2		194630	ZNF123P, ZNF123	Zinc finger protein 123, pseudogene	ZNF123P	100188891	ENSG00000255259			
chr11	110600001	114600000	11q23.1-q23.2		194632	ZNF125	Zinc finger protein-125 (HZF-3)						
chr11	111245725	111286401	11q23.1	11q23.1	620671	POU2AF2, C11orf53, OCAT1	POU class 2 homeobox-associating factor 2	POU2AF2	341032	ENSG00000150750			Pou2af2 (MGI:1917059)
chr11	111293389	111305048	11q23	11q23.1	615693	COLCA1	Colorectal cancer-associated gene 1	COLCA1	399948	ENSG00000196167			
chr11	111298546	111308735	11q23	11q23.1	615694	POU2AF3, COLCA2, C11orf93	POU class 2 homeobox-associating factor 3	POU2AF3	120376	ENSG00000214290	opposite strand from COLCA1		Pou2af3 (MGI:2685530)
chr11	111352255	111379275	11q23.1	11q23.1	601206	POU2AF1, OBF1	POU class 2 homeobox-associating factor 1	POU2AF1	5450	ENSG00000110777			Pou2af1 (MGI:105086)
chr11	111383826	111514725	11q23	11q23.1	605673	BTG4, PC3B, OZEMA8	BTG antiproliferation factor 4	BTG4	54766	ENSG00000137707		Oocyte/zygote/embryo maturation arrest 8, 619009 (3), Autosomal recessive	Btg4 (MGI:1860140)
chr11	111512938	111513021	11q23.1	11q23.1	611374	MIR34B	Micro RNA 34B	MIR34B	407041	ENSG00000207811			Mir34b (MGI:3619364)
chr11	111513439	111513515	11q23.1	11q23.1	611375	MIR34C	Micro RNA 34C	MIR34C	407042	ENSG00000207562			Mir34c (MGI:3619365)
chr11	111540280	111561745	11q23.1	11q23.1	618843	LAYN	Layilin	LAYN	143903	ENSG00000204381			Layn (MGI:2685357)
chr11	111602449	111730855	11q23.1	11q23.1	608973	SIK2, KIAA0781	Salt-inducible kinase 2	SIK2	23235	ENSG00000170145			Sik2 (MGI:2445031)
chr11	111688000	111766389	11q22-q24	11q23.1	603113	PPP2R1B	Protein phosphatase 2, structural/regulatory subunit A, beta	PPP2R1B	5519	ENSG00000137713		Lung cancer, somatic, 211980 (3)	Ppp2r1b (MGI:1920949)
chr11	111768025	111871581	11q23	11q23.1	606941	ALG9, DIBD1, CDG1L, GIKANIS	ALG9 alpha-1,2-mannosyltransferase	ALG9	79796	ENSG00000086848		Gillessen-Kaesbach-Nishimura syndrome, 263210 (3), Autosomal recessive; Congenital disorder of glycosylation, type Il, 608776 (3), Autosomal recessive	Alg9 (MGI:1924753)
chr11	111908564	111923740	11q22.3-q23.1	11q23.1	123590	CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2	Crystallin, alpha B	CRYAB	1410	ENSG00000109846		Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3), Autosomal recessive; Myopathy, myofibrillar, 2, 608810 (3), Autosomal dominant; Cataract 16, multiple types, 613763 (3), Autosomal recessive, Autosomal dominant; Cardiomyopathy, dilated, 1II, 615184 (3), Autosomal dominant	Cryab (MGI:88516)
chr11	111912734	111914093	11q22-q23	11q23.1	602179	HSPB2	Heat-shock 27kD protein-2	HSPB2	3316	ENSG00000170276			Hspb2 (MGI:1916503)
chr11	111927315	112022653	11q23.1	11q23.1	610493	DIXDC1, CCD1, KIAA1735	DIX domain-containing protein 1	DIXDC1	85458	ENSG00000150764			Dixdc1 (MGI:2679721)
chr11	112025408	112064404	11q23.1	11q23.1	608770	DLAT, PDCE2	Dihydrolipoamide S-acetyltransferase	DLAT	1737	ENSG00000150768		Pyruvate dehydrogenase E2 deficiency, 245348 (3), Autosomal recessive	Dlat (MGI:2385311)
chr11	112084800	112086756	11q23.1	11q23.1	606659	TIMM8B, DDP2	Translocase of inner mitochondrial membrane 8B	TIMM8B	26521	ENSG00000150779			Timm8b (MGI:1353424)
chr11	112086873	112095794	11q23	11q23.1	602690	SDHD, PPGL1, MC2DN3	Succinate dehydrogenase complex, subunit D	SDHD	6392	ENSG00000204370		Pheochromocytoma/paraganglioma syndrome 1, 168000 (3), Autosomal dominant; Paraganglioma and gastric stromal sarcoma, 606864 (3); Mitochondrial complex II deficiency, nuclear type 3, 619167 (3), Autosomal recessive	Sdhd (MGI:1914175)
chr11	112143260	112164094	11q22.2-q22.3	11q23.1	600953	IL18, IGIF	Interleukin-18	IL18	3606	ENSG00000150782			Il18 (MGI:107936)
chr11	112167372	112172556	Chr.11	11q23.1	605791	TEX12	Testis-expressed gene 12	TEX12	56158	ENSG00000150783			Tex12 (MGI:1913904)
chr11	112175512	112218946	11q22.3-q23.1	11q23.1	611740	BCO2, BCDO2	Beta-carotene oxygenase 2	BCO2	83875	ENSG00000197580			Bco2 (MGI:2177469)
chr11	112226428	112233973	11q22.3-q23.3	11q23.1	612719	PTS	6-pyruvoyltetrahydropterin synthase	PTS	5805	ENSG00000150787		Hyperphenylalaninemia, BH4-deficient, A, 261640 (3), Autosomal recessive	Pts (MGI:1338783)
chr11	112248153	112260860	11q23.2	11q23.1	611904	C11orf34, PLET1	Chromosome 11 open reading frame 34	PLET1	349633	ENSG00000188771			Plet1 (MGI:1923759)
chr11	112961420	113278436	11q23.1	11q23.2	116930	NCAM1, MSK39	Neural cell adhesion molecule 1	NCAM1	4684	ENSG00000149294	defective in "staggerer" in mice		Ncam1 (MGI:97281)
chr11	113314583	113373297	11q23.2	11q23.2	610732	TTC12, TPARM, CILD45	Tetratricopeptide repeat domain 12	TTC12	54970	ENSG00000149292		Ciliary dyskinesia, primary, 45, 618801 (3), Autosomal recessive	Ttc12 (MGI:2444588)
chr11	113387779	113400416	11q23.2	11q23.2	608774	ANKK1	Ankyrin repeat and kinase domain containing 1	ANKK1	255239	ENSG00000170209			Ankk1 (MGI:3045301)
chr11	113409605	113475398	11q23.1	11q23.2	126450	DRD2	Dopamine receptor D2	DRD2	1813	ENSG00000149295	11q22-q23 junction; 150kb 5' to NCAM; centromeric to APOA1; telomeric to STMY1		Drd2 (MGI:94924)
chr11	113687550	113706308	11q23.3	11q23.2	606751	TMPRSS5	Transmembrane protease, serine 5	TMPRSS5	80975	ENSG00000166682			Tmprss5 (MGI:1933407)
chr11	113733187	113773692	11q23.2	11q23.2	603954	ZW10	ZW10 kinetochore protein	ZW10	9183	ENSG00000086827			Zw10 (MGI:1349478)
chr11	113779796	113780485	11q23.2	11q23.2	620812	CLDN25	Claudin 25	CLDN25	644672	ENSG00000228607			Cldn25 (MGI:3642767)
chr11	113797875	113875572	11q23	11q23.2	610748	USP28, KIAA1515	Ubiquitin-specific protease 28	USP28	57646	ENSG00000048028			Usp28 (MGI:2442293)
chr11	113898923	113949079	11q23.1	11q23.2	604654	HTR3B	5-hydroxytryptamine receptor 3B	HTR3B	9177	ENSG00000149305			Htr3b (MGI:1861899)
chr11	113975108	113990313	11q23.1-q23.2	11q23.2	182139	HTR3	5-hydroxytryptamine (serotonin) receptor-3	HTR3A	3359	ENSG00000166736			Htr3a (MGI:96282)
chr11	114059711	114256770	11q23.1	11q23.2	176797	ZBTB16, ZNF145, PLZF	Zinc finger- and BTB domain-containing protein 16 (promyelocytic leukemia zinc finger)	ZBTB16	7704	ENSG00000109906	fused with RARA in APL of t(11;17) type	Leukemia, acute promyelocytic, PL2F/RARA type (3)	Zbtb16 (MGI:103222)
chr11	114257806	114313536	11q23.1	11q23.2	600008	NNMT	Nicotinamide N-methyltransferase	NNMT	4837	ENSG00000166741		Homocysteine plasma level, 600008 (2)	Nnmt (MGI:1099443)
chr11	114400666	114410607	11q23.1-q23.2	11q23.2	612413	RBM7	RNA-binding motif protein 7	RBM7	10179	ENSG00000076053			Rbm7 (MGI:1914260)
chr11	114439467	114450279	11q23.1-q23.2	11q23.2	607149	REXO2, RFN	RNA exonuclease 2, S. cerevisiae, homolog of	REXO2	25996	ENSG00000076043			Rexo2 (MGI:1888981)
chr11	114570591	114678250	11q23.2	11q23.2-q23.3	618133	NXPE4, C11orf33	Neurexophilin and PC-esterase domain family, member 4	NXPE4	54827	ENSG00000137634			Nxpe4 (MGI:1924792)
chr11	114600001	130900000	11q23.3-q24		607086	AAT1, FAA1	Aortic aneurysm, familial thoracic 1		252842			Aortic aneurysm, familial thoracic 1, 607086 (2)	
chr11	114600001	121300000	11q23.3		605201	HDLCQ14, HYLAP	High density lipoprotein cholesterol level quantitative trait locus 14		56801			High density lipoprotein cholesterol level QTL14, 605201 (2)	
chr11	114600001	135086622	11q23.3-q25		147791	JBS	Jacobsen syndrome				contiguous gene deletion syndrome	Jacobsen syndrome, 147791 (4), Isolated cases	
chr11	115169236	115504415	11q23.2	11q23.3	605686	CADM1, IGSF4, TSLC1	Cell adhesion molecule 1	CADM1	23705	ENSG00000182985			Cadm1 (MGI:1889272)
chr11	116748173	116772987	11q23.3	11q23.3	620691	BUD13	BUD13 homolog	BUD13	84811	ENSG00000137656			Bud13 (MGI:2443443)
chr11	116773799	116788023	11q23.3	11q23.3	603901	ZPR1, ZNF259, GKAF	ZPR1 zinc finger protein	ZPR1	8882	ENSG00000109917	mutation identified in 1 GKAF patient	?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, 619321 (3), Autosomal recessive	Zpr1 (MGI:1330262)
chr11	116789367	116792420	11q23	11q23.3	606368	APOA5	Apolipoprotein A-V	APOA5	116519	ENSG00000110243	proximal to APOA1, APOC3, APOA4	Hyperchylomicronemia, late-onset, 144650 (3), Autosomal dominant; {Hypertriglyceridemia, susceptibility to}, 145750 (3), Autosomal dominant	Apoa5 (MGI:1913363)
chr11	116820700	116823304	11q23	11q23.3	107690	APOA4, ADTKD6	Apolipoprotein A-IV	APOA4	337	ENSG00000110244	12 kb 3' to APOA1	Tubulointerstitial kidney disease, autosomal dominant 6, 621106 (3), Autosomal dominant	Apoa4 (MGI:88051)
chr11	116829907	116833072	11q23	11q23.3	107720	APOC3, HALP2	Apolipoprotein C-III	APOC3	345	ENSG00000110245	2.6kb 3' to APOA1	Apolipoprotein C-III deficiency, 614028 (3)	Apoc3 (MGI:88055)
chr11	116835751	116837622	11q23	11q23.3	107680	APOA1, HPALP2, AMYLD3	Apolipoprotein A-I	APOA1	335	ENSG00000118137		Hypoalphalipoproteinemia, primary, 2, 618463 (3), Autosomal recessive; Amyloidosis, hereditary systemic 3, 620657 (3); Hypoalphalipoproteinemia, primary, 2, intermediate, 619836 (3), Autosomal dominant	Apoa1 (MGI:88049)
chr11	116836117	116855729	11q23.3	11q23.3	620112	APOA1AS	APOA1 antisense RNA, noncoding	APOA1-AS	104326055				
chr11	116843402	117098428	11q23.3	11q23.3	614776	SIK3, KIAA0999, SEMDK	Salt-inducible kinase 3	SIK3	23387	ENSG00000160584	mutation identified in 1 SEMDK family	?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3), Autosomal recessive	Sik3 (MGI:2446296)
chr11	117144287	117178173	11q23	11q23.3	602508	PAFAH1B2	Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit	PAFAH1B2	5049	ENSG00000168092			Pafah1b2 (MGI:108415)
chr11	117178743	117197442	11q23.3	11q23.3	617551	SIDT2	SID1 transmembrane family, member 2	SIDT2	51092	ENSG00000149577			Sidt2 (MGI:2446134)
chr11	117199294	117207465	11q23.2	11q23.3	600818	TAGLN, SMCC, SM22	Transgelin	TAGLN	6876	ENSG00000149591			Tagln (MGI:106012)
chr11	117204337	117232073	11q23.3	11q23.3	604872	PCSK7, PC8, PC7, LPC	Proprotein convertase, subtilisin/kexin-type, 7	PCSK7	9159	ENSG00000160613			Pcsk7 (MGI:107421)
chr11	117285698	117316256	11q23.3	11q23.3	604252	BACE1, BACE	Beta-site amyloid beta A4 precursor protein-cleaving enzyme (secretase, beta; memapsin 2)	BACE1	23621	ENSG00000186318			Bace1 (MGI:1346542)
chr11	117291346	117292170	11q23.3	11q23.3	614263	BACE1AS	BACE1 antisense RNA	BACE1-AS	100379571	ENSG00000278768			
chr11	117321778	117413266	11q23.3	11q23.3	614848	CEP164, KIAA1052	Centrosomal protein, 164kD	CEP164	22897	ENSG00000110274		Nephronophthisis 15, 614845 (3), Autosomal recessive	Cep164 (MGI:2384878)
chr11	117427772	117817514	11q23	11q23.3	611782	DSCAML1, KIAA1132, DSCAM2	DS cell adhesion molecule-like 1	DSCAML1	57453	ENSG00000177103			Dscaml1 (MGI:2150309)
chr11	117820057	117828089	11q23	11q23.3	601814	FXYD2, ATP1G1, HOMG2	FXYD domain-containing ion transport regulator 2 (sodium-potassium-ATPase, gamma polypeptide)	FXYD2	486	ENSG00000137731		Hypomagnesemia 2, renal, 154020 (3), Autosomal dominant	Fxyd2 (MGI:1195260)
chr11	117836981	117877430	Chr.11	11q23.3	606683	FXYD6	FXYD domain-containing ion transport regulator 6	FXYD6	53826	ENSG00000137726			Fxyd6 (MGI:1890226)
chr11	117900641	117929402	11q23	11q23.3	610050	TMPRSS13, MSPL, MSPS	Transmembrane protease, serine 13	TMPRSS13	84000	ENSG00000137747			Tmprss13 (MGI:2682935)
chr11	117986394	118003037	11q23.3	11q23.3	146933	IL10RA, IL10R, IBD28	Interleukin-10 receptor, alpha	IL10RA	3587	ENSG00000110324		Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3), Autosomal recessive	Il10ra (MGI:96538)
chr11	118077078	118125505	11q23.3	11q23.3	606565	TMPRSS4	Transmembrane protease, serine 4	TMPRSS4	56649	ENSG00000137648			Tmprss4 (MGI:2384877)
chr11	118133377	118152823	11q23	11q23.3	608256	SCN4B, LQT10, ATFB17	Sodium voltage-gated channel, beta subunit 4	SCN4B	6330	ENSG00000177098		Atrial fibrillation, familial, 17, 611819 (3), Autosomal dominant; Long QT syndrome 10, 611819 (3), Autosomal dominant	Scn4b (MGI:2687406)
chr11	118162806	118176639	11q23	11q23.3	601327	SCN2B, ATFB14	Sodium voltage-gated channel, beta subunit 1	SCN2B	6327	ENSG00000149575		Atrial fibrillation, familial, 14, 615378 (3), Autosomal dominant	Scn2b (MGI:106921)
chr11	118193725	118225011	11q23	11q23.3	609770	JAML, AMICA1	Junctional adhesion molecule-like	JAML	120425	ENSG00000160593			Jaml (MGI:2685484)
chr11	118226690	118252365	11q23.3	11q23.3	611707	MPZL3	Myelin protein zero-like 3	MPZL3	196264	ENSG00000160588			Mpzl3 (MGI:2442647)
chr11	118253416	118264297	11q24	11q23.3	604873	MPZL2, EVA1, EVA, DFNB111	Myelin protein zero-like 2	MPZL2	10205	ENSG00000149573		Deafness, autosomal recessive 111, 618145 (3), Autosomal recessive	Mpzl2 (MGI:1289160)
chr11	118304730	118316173	11q23	11q23.3	186830	CD3E, IMD18	CD3E antigen, epsilon polypeptide (TiT3 complex)	CD3E	916	ENSG00000198851		Immunodeficiency 18, 615615 (3), Autosomal recessive; Immunodeficiency 18, SCID variant, 615615 (3), Autosomal recessive	Cd3e (MGI:88332)
chr11	118338954	118342705	11q23	11q23.3	186790	CD3D, T3D, IMD19	CD3D antigen, delta polypeptide (TiT3 complex)	CD3D	915	ENSG00000167286	3 CD3 genes in 50kb	Immunodeficiency 19, severe combined, 615617 (3), Autosomal recessive	Cd3d (MGI:88331)
chr11	118344344	118355161	11q23	11q23.3	186740	CD3G, IMD17	CD3G antigen, gamma polypeptide (TiT3 complex)	CD3G	917	ENSG00000160654		Immunodeficiency 17, CD3 gamma deficient, 615607 (3), Autosomal recessive	Cd3g (MGI:88333)
chr11	118359600	118399211	11q23.3	11q23.3	603753	UBE4A, UFD2, E4, NEDHMS	Ubiquitination factor E4A	UBE4A	9354	ENSG00000110344		Neurodevelopmental disorder with hypotonia and gross motor and speech delay, 619639 (3), Autosomal recessive	Ube4a (MGI:2154580)
chr11	118401606	118409847	11q22.3	11q23.3	617473	ATP5JG	ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G	ATP5MG	10632	ENSG00000167283			Atg5lrt,Atp5mg (MGI:1351597,MGI:3646788)
chr11	118436492	118526832	11q23	11q23.3	159555	KMT2A, MLL, HRX, WDSTS	Lysine-specific methyltransferase 2E	KMT2A	4297	ENSG00000118058	fuses with ENL, AF4, AF9, GMPS	Wiedemann-Steiner syndrome, 605130 (3), Autosomal dominant	Kmt2a (MGI:96995)
chr11	118527474	118530993	11q23.3	11q23.3	620701	TTC36, HBP21	Tetratricopeptide repeat domain 36	TTC36	143941	ENSG00000172425			Ttc36 (MGI:2384760)
chr11	118531192	118547286	11q23.3	11q23.3	613934	TMEM25	Transmembrane protein 25	TMEM25	84866	ENSG00000149582			Tmem25 (MGI:1918937)
chr11	118544543	118576898	11q23.3	11q23.3	620506	IFT46, C11orf60	Intraflagellar transport 46	IFT46	56912	ENSG00000118096			Ift46 (MGI:1923818)
chr11	118572409	118603033	11q23.3	11q23.3	600820	ARCN1, SSMG	Archain 1	ARCN1	372	ENSG00000095139	60kb telomeric to MLL	Short stature-micrognathia syndrome, 617164 (3), Autosomal dominant	Arcn1 (MGI:2387591)
chr11	118606436	118658028	11q23.3	11q23.3	612834	PHLDB1, LL5A, KIAA0638, OI23	Pleckstrin homology-like domain, family B, member 1	PHLDB1	23187	ENSG00000019144		Osteogenesis imperfecta, type XXIII, 620639 (3), Autosomal recessive	Phldb1 (MGI:2143230)
chr11	118657316	118679650	11q23	11q23.3	275360	TREH, TREHD	Trehalase	TREH	11181	ENSG00000118094		Trehalase deficiency, 612119 (3), Autosomal recessive	Treh (MGI:1926230)
chr11	118747763	118791744	11q23.3	11q23.3	600326	DDX6, HLR2, IDDILF	DEAD-box helicase 6	DDX6	1656	ENSG00000110367		Intellectual developmental disorder with impaired language and dysmorphic facies, 618653 (3), Autosomal dominant	Ddx6 (MGI:104976)
chr11	118883892	118897787	11q23.3	11q23.3	601613	CXCR5, BLR1	Chemokine, CXC motif, receptor 5	CXCR5	643	ENSG00000160683			Cxcr5 (MGI:103567)
chr11	118896136	118925926	11q23.3	11q23.3	609004	BCL9L	B-cell CLL/lymphoma 9-like	BCL9L	283149	ENSG00000186174			Bcl9l (MGI:1933114)
chr11	118956298	118958559	11q23.3	11q23.3	611558	UPK2, UP2, UPII	Uroplakin 2	UPK2	7379	ENSG00000110375			Upk2 (MGI:98913)
chr11	118971761	118981287	11q23.3	11q23.3	615755	FOXR1, FOXN5	Forkhead box R1	FOXR1	283150	ENSG00000176302			Foxr1 (MGI:2685961)
chr11	118998138	119015793	11q23.3	11q23.3	620142	CENATAC, CCDC84, MVA4	Centrosomal AT-AC splicing factor	CENATAC	338657	ENSG00000186166	mutation identified in 1 MVA4 family	?Mosaic variegated aneuploidy syndrome 4, 620153 (3), Autosomal recessive	Cenatac (MGI:2685960)
chr11	119015717	119018343	11q23.3	11q23.3	180465	RPS25	Ribosomal protein S25	RPS25	6230	ENSG00000118181			Rps25 (MGI:1922867)
chr11	119018766	119024134	11q23.3	11q23.3	610971	TRAPPC4, NEDESBA	Trafficking protein particle complex, subunit 4 (synbindin)	TRAPPC4	51399	ENSG00000196655		Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 (3), Autosomal recessive	Trappc4 (MGI:1926211)
chr11	119024112	119030877	11q23	11q23.3	602671	SLC37A4, G6PT1, CDG2W	Solute carrier family 37 (glucose-6-phosphate transporter), member 4	SLC37A4	2542	ENSG00000137700		Glycogen storage disease Ib, 232220 (3), Autosomal recessive; Congenital disorder of glycosylation, type IIw, 619525 (3), Autosomal dominant; Glycogen storage disease Ic, 232240 (3), Autosomal recessive	Slc37a4 (MGI:1316650)
chr11	119044188	119057205	11q23.3	11q23.3	601746	HYOU1, IMD59	Hypoxia-upregulated 1	HYOU1	10525	ENSG00000149428	mutation identified in 1 IMD59 patient	?Immunodeficiency 59 and hypoglycemia, 233600 (3), Autosomal recessive	Hyou1 (MGI:108030)
chr11	119067818	119081972	11q23.3	11q23.3	608549	VPS11, HLD12; DYT32	VPS11 core subunit of CORVET and HOPS complexes	VPS11	55823	ENSG00000160695	mutation identified in 1 DYT32 patient	?Dystonia 32, 619637 (3), Autosomal recessive; Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive	Vps11 (MGI:1918982)
chr11	119084881	119093549	11q23.3	11q23.3	609806	HMBS, PBGD, UPS, ENCEP, LENCEP	Hydroxymethylbilane synthase	HMBS	3145	ENSG00000256269		Leukoencephalopathy, porphyria-related, 620711 (3), Autosomal recessive; Encephalopathy, porphyria-related, 620704 (3), Autosomal recessive; Porphyria, acute intermittent, nonerythroid variant, 176000 (3), Autosomal dominant; Porphyria, acute intermittent, 176000 (3), Autosomal dominant	Hmbs (MGI:96112)
chr11	119093874	119101853	11q23.3	11q23.3	191350	DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13	Dolichyl-phosphate N-acetylglucosamine phosphotransferase	DPAGT1	1798	ENSG00000172269		Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3), Autosomal recessive; Congenital disorder of glycosylation, type Ij, 608093 (3), Autosomal recessive	Dpagt1 (MGI:1196396)
chr11	119093874	119095465	11q23.2-q23.3	11q23.3	601772	H2AX	H2AX histone	H2AX	3014	ENSG00000188486			H2ax (MGI:102688)
chr11	119102249	119118544	11q23.3	11q23.3	617582	C2CD2L, TMEM24	C2 calcium-dependent domain-containing protein 2-like	C2CD2L	9854	ENSG00000172375			C2cd2l (MGI:1919014)
chr11	119121580	119136059	11q23.3	11q23.3	607099	HINFP, MIZF	Histone H4 transcription factor	HINFP	25988	ENSG00000172273			Hinfp (MGI:2429620)
chr11	119149052	119162666	11q23.3	11q23.3	607784	ABCG4, WHITE2	ATP-binding cassette, subfamily G, member 4	ABCG4	64137	ENSG00000172350			Abcg4 (MGI:1890594)
chr11	119168334	119184016	11q23.3	11q23.3	611947	NLRX1, NOD9, CLR11.3	NLR family member X1	NLRX1	79671	ENSG00000160703			Nlrx1 (MGI:2429611)
chr11	119185475	119190213	11q23	11q23.3	607146	PDZD3, IKEPP	PDZ domain-containing 3	NHERF4	79849	ENSG00000172367			Nherf4 (MGI:2429554)
chr11	119206339	119308149	11q23.3	11q23.3	165360	CBL, CBL2, NSLL	CBL protooncogene	CBL	867	ENSG00000110395	mutation identified in 1 JMML family	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3), Autosomal dominant; ?Juvenile myelomonocytic leukemia, 607785 (3), Somatic mutation, Autosomal dominant	Cbl (MGI:88279)
chr11	119308529	119317130	11q23.3	11q23.3	155735	MCAM, MUC18, CD146	Melanoma adhesion molecule	MCAM	4162	ENSG00000076706			Mcam (MGI:1933966)
chr11	119334527	119337309	11q23	11q23.3	606130	RNF26	RING finger protein-26	RNF26	79102	ENSG00000173456			Rnf26,Rnf26rt (MGI:2388131,MGI:3644000)
chr11	119338942	119346705	11q23.3	11q23.3	608752	C1QTNF5, CTRP5, LORD	C1q- and tumor necrosis factor-related protein 5	C1QTNF5	114902	ENSG00000223953		Retinal degeneration, late-onset, autosomal dominant, 605670 (3), Autosomal dominant	C1qtnf5 (MGI:2385958)
chr11	119338942	119346705	11q23	11q23.3	606227	MFRP, MCOP5, NNO2	Membrane-type frizzled-related protein	MFRP	83552	ENSG00000235718		Microphthalmia, isolated 5, 611040 (3), Autosomal recessive; Nanophthalmos 2, 609549 (3)	Mfrp (MGI:2385957)
chr11	119355215	119381690	11q23.3	11q23.3	604725	USP2, UBP41	Ubiquitin-specific protease 2	USP2	9099	ENSG00000036672			Usp2 (MGI:1858178)
chr11	119415476	119424985	11q23.3	11q23.3	188230	THY1	Thy-1 T-cell antigen	THY1	7070	ENSG00000154096			Thy1 (MGI:98747)
chr11	119638098	119729200	11q23-q24	11q23.3	600644	NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1	Nectin 1	NECTIN1	5818	ENSG00000110400		Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3), Autosomal recessive; Orofacial cleft 7, 225060 (3), Autosomal recessive	Nectin1 (MGI:1926483)
chr11	120111286	120138113	11q23.3	11q23.3	610658	TRIM29, ATDC	Tripartite motif-containing protein 29	TRIM29	23650	ENSG00000137699			Trim29 (MGI:1919419)
chr11	120211032	120230334	11q23.3	11q23.3	621070	OAF	Out at first, drosophila, homolog of	OAF	220323	ENSG00000184232			Oaf (MGI:94852)
chr11	120236638	120319945	11q23.3	11q23.3	607394	POU2F3, OCT11	POU domain, class 2, transcription factor 3	POU2F3	25833	ENSG00000137709			Pou2f3 (MGI:102565)
chr11	120336413	120489937	11q23.3	11q23.3	604763	ARHGEF12, LARG, KIAA0382	Rho guanine nucleotide exchange factor 12, leukemia-associated	ARHGEF12	23365	ENSG00000196914	fused with MLL in AML		Arhgef12 (MGI:1916882)
chr11	120511748	120988906	11q22.3	11q23.3	600282	GRIK4	Glutamate receptor, ionotropic, kainate 4	GRIK4	2900	ENSG00000149403			Grik4 (MGI:95817)
chr11	121024102	121090776	11q23.3	11q23.3	610451	TBCEL, LRRC35, EL	Tubulin-specific chaperone E-like	TBCEL	219899	ENSG00000154114			Tbcel (MGI:1925543)
chr11	121101243	121191490	11q22-q24	11q23.3	602574	TECTA, DFNA8, DFNA12, DFNB21	Tectorin, alpha	TECTA	7007	ENSG00000109927		Deafness, autosomal dominant 8/12, 601543 (3), Autosomal dominant; Deafness, autosomal recessive 21, 603629 (3), Autosomal recessive	Tecta (MGI:109575)
chr11	121292771	121313410	11q23.3	11q23.3-q24.1	602286	SC5D, ERG3	Sterol C5-desaturase	SC5D	6309	ENSG00000109929		Lathosterolosis, 607330 (3), Autosomal recessive	Sc5d (MGI:1353611)
chr11	121300001	135086622	11q24-q25		612161	ANIB7	Aneurysm, intracranial berry, 7		100188885		between rs618176 and rs1940033	Aneurysm, intracranial berry, 7, 612161 (2)	
chr11	121300001	124000000	11q24.1		612559	CLLS5	Leukemia, chronic lymphocytic susceptibility to, 5		100270644		associated with rs735665	{Leukemia, chronic lymphocytic susceptibility to, 5}, 612559 (2)	
chr11	121300001	130900000	11q24		609670	MGR9	Migraine with aura, susceptibility to, 9		100415943		max lod at GATA64D03	{Migraine with aura, susceptibility to, 9}, 609670 (2)	
chr11	121300001	130900000	11q24		609469	NEDE	Nephropathy, progressive, with deafness		619410		max lod at D11S4464	Nephropathy, progressive, with deafness, 609469 (2)	
chr11	121452314	121633763	11q23.2-q24.2	11q24.1	602005	SORL1, LR11, SORLA	Sortilin-related receptor, L(DLR class) A repeats-containing	SORL1	6653	ENSG00000137642			Sorl1 (MGI:1202296)
chr11	122028329	122422871	11q24.1	11q24.1	615965	MIR100HG, AGD1	MIR100-LET7A2 cluster host gene, noncoding	MIR100HG	399959	ENSG00000255248			Mir100hg (MGI:1920394)
chr11	122099757	122099844	11q24.1	11q24.1	610104	MIR125B1, MIRN125B1	Micro RNA 125B-1	MIR125B1	406911	ENSG00000207971			Mir125b-1 (MGI:2676810)
chr11	122115340	122116215	11q24.1	11q24.1	608853	BLID, BRCC@	BH3-like motif-containing cell death inducer	BLID	414899	ENSG00000259571	distal to SORL1		
chr11	122146522	122146593	11q24.1	11q24.1	612142	MIRLET7A2, LET7A2, MIRNLET7A2	Micro RNA let7a2	MIRLET7A2	406882	ENSG00000198975			Mirlet7a-2 (MGI:3619049)
chr11	122152229	122152308	11q24.1	11q24.1	613186	MIR100, MIRN100	Micro RNA 100	MIR100	406892	ENSG00000207994			Mir100 (MGI:3619057)
chr11	122655722	122814473	11q24.1	11q24.1	609201	UBASH3B, STS1, KIAA1959, P70	Ubiquitin-associated and SH3 domain-containing protein B	UBASH3B	84959	ENSG00000154127			Ubash3b (MGI:1920078)
chr11	122838500	122872643	11q22-q23	11q24.1	612597	CRTAM	Cytotoxic and regulatory T-cell molecule	CRTAM	56253	ENSG00000109943			Crtam (MGI:1859822)
chr11	122882759	122963862	11q24.1	11q24.1	617594	JHY, C11orf63	Jhy, mouse, homology of	JHY	79864	ENSG00000109944			Jhy (MGI:1918239)
chr11	122977570	122981834	11q24.1	11q24.1	611074	BSX1	Brain-specific homeobox, mouse, homolog of	BSX	390259	ENSG00000188909			Bsx (MGI:2669849)
chr11	123057489	123062462	11q23.3-q25	11q24.1	600816	HSPA8, HSP73	Heat-shock 70kD protein-8 (HSP73)	HSPA8	3312	ENSG00000109971			Hspa8 (MGI:105384)
chr11	123069872	123195248	11q24.1	11q24.1	611693	CLMP, ASAM, ACAM, CSBS	Coxsackievirus- and adenovirus receptor-like membrane protein	CLMP	79827	ENSG00000166250		Congenital short bowel syndrome, 615237 (3), Autosomal recessive	Clmp (MGI:1918816)
chr11	123358422	123627767	11q24.1	11q24.1	620179	GRAMD1B	GRAM domain-containing protein 1B	GRAMD1B	57476	ENSG00000023171			Gramd1b (MGI:1925037)
chr11	123629188	123654624	11q23.3	11q24.1	608214	SCN3B, SCNB3, BRGDA7, ATFB16	Sodium voltage-gated channel, beta subunit 3	SCN3B	55800	ENSG00000166257		Atrial fibrillation, familial, 16, 613120 (3), Autosomal dominant; Brugada syndrome 7, 613120 (3), Autosomal dominant	Scn3b (MGI:1918882)
chr11	123723914	123741660	11q23.3	11q24.1	603430	ZNF202	Zinc finger protein-202	ZNF202	7753	ENSG00000166261			Zfp202 (MGI:1933401)
chr11	124000001	127900000	11q24.2		612581	MRD4	Intellectual developmental disorder, autosomal dominant 4		112441440		translocation t(11;16)(q24.2;q24)	Intellectual developmental disorder, autosomal dominant 4, 612581 (2), Autosomal dominant	
chr11	124115450	124147721	11q23	11q24.2	602929	VWA5A, LOH11CR2A, BCSC1	von Willebrand factor A domain-containing protein 5A	VWA5A	4013	ENSG00000110002			AW551984,Vwa5a (MGI:1915026,MGI:2143322)
chr11	124611428	124620356	11q24.2	11q24.2	608422	PANX3, PX3	Pannexin 3	PANX3	116337	ENSG00000154143			Panx3 (MGI:1918881)
chr11	124622864	124635926	11q24.2	11q24.2	610614	TBRG1, NIAM	Transforming growth factor-beta regulator 1	TBRG1	84897	ENSG00000154144			Tbrg1 (MGI:1100877)
chr11	124633113	124676303	11q24	11q24.2	610079	SIAE, AIS6	Sialic acid acetylesterase	SIAE	54414	ENSG00000110013		{Autoimmune disease, susceptibility to, 6}, 613551 (3)	Siae (MGI:104803)
chr11	124673904	124697518	11q24.2	11q24.2	608621	SPA17, SP17	Sperm autoantigenic protein 17	SPA17	53340	ENSG00000064199			Spa17 (MGI:1333778)
chr11	124739942	124747210	11q24	11q24.2	602350	NRGN	Neurogranin	NRGN	4900	ENSG00000154146			Nrgn (MGI:1927184)
chr11	124747474	124752255	11q24	11q24.2	606011	VSIG2, CTXL	V-set and immunoglobulin domains-containing protein 2	VSIG2	23584	ENSG00000019102			Vsig2 (MGI:1928009)
chr11	124753126	124762290	11q24.2	11q24.2	614281	ESAM, NEDIHSS	Endothelial cell adhesion molecule	ESAM	90952	ENSG00000149564		Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, 620371 (3), Autosomal recessive	Esam (MGI:1916774)
chr11	124865432	124881471	11q23-q25	11q24.2	608630	ROBO3, RBIG1, RIG1, HGPPS1	Roundabout guidance receptor 3	ROBO3	64221	ENSG00000154134		Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3), Autosomal recessive	Robo3 (MGI:1343102)
chr11	124883691	124897865	11q24.2	11q24.2	607528	ROBO4, AOVD3	Roundabout guidance receptor 4	ROBO4	54538	ENSG00000154133		Aortic valve disease 3, 618496 (3), Autosomal dominant	Robo4 (MGI:1921394)
chr11	124919205	124936047	11q24	11q24.2	611642	HEPACAM, MLC2A, MLC2B	Hepatocyte cell adhesion molecule	HEPACAM	220296	ENSG00000165478		Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3), Autosomal recessive; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development, 613926 (3), Autosomal dominant	Hepacam (MGI:1920177)
chr11	124919250	124920677	11q24.2	11q24.2	611641	HEPN1	Cancer susceptibility gene HEPN1	HEPN1	641654	ENSG00000221932			
chr11	125063305	125090516	11q24.2	11q24.2	619136	SLC37A2, SPX2	Solute carrier family 37 (glucose-6-phosphate transporter), member A2	SLC37A2	219855	ENSG00000134955			Slc37a2 (MGI:1929693)
chr11	125094389	125111626	11q24.2	11q24.2	619285	TMEM218, JBTS39	Transmembrane protein 218	TMEM218	219854	ENSG00000150433		Joubert syndrome 39, 619562 (3), Autosomal recessive	Tmem218 (MGI:1913529)
chr11	125164751	125433389	11q24-q25	11q24.2	613066	PKNOX2, PREP2	PBX/Knotted 1 homeobox 2	PKNOX2	63876	ENSG00000165495			Pknox2 (MGI:2445415)
chr11	125442881	125496265	11q24.2	11q24.2	604825	FEZ1	Fasciculation and elongation protein zeta 1	FEZ1	9638	ENSG00000149557			Fez1 (MGI:2670976)
chr11	125569477	125584684	11q23	11q24.2	605170	EI24, PIG8, EPG4	Etoposide-induced 1.4 mRNA	EI24	9538	ENSG00000149547			Ei24 (MGI:108090)
chr11	125591769	125623091	11q23.3	11q24.2	601134	STT3A, ITM1, TMC, CDG1WAR, CDG1WAD	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	STT3A	3703	ENSG00000134910		Congenital disorder of glycosylation, type Iw, autosomal dominant, 619714 (3), Autosomal dominant; Congenital disorder of glycosylation, type Iw, autosomal recessive, 615596 (3), Autosomal recessive	Stt3a (MGI:105124)
chr11	125625136	125681124	11q22-q23	11q24.2	603078	CHEK1, CHK1, OZEMA21	Checkpoint kinase 1	CHEK1	1111	ENSG00000149554		Oocyte/zygote/embryo maturation arrest 21, 620610 (3), Autosomal dominant	Chek1 (MGI:1202065)
chr11	125671522	125680847	11p12-q13	11q24.2	102525	ACRV1	Acrosomal vesicle protein-1	ACRV1	56	ENSG00000134940			Acrv1 (MGI:104590)
chr11	125746279	125749867	11q24	11q24.2	606861	PATE	Prostate- and testis-expressed gene	PATE1	160065	ENSG00000171053			Pate1 (MGI:4936886)
chr11	125883614	125900646	11q24.2	11q24.2	610693	HYLS1, FLJ32915	HYLS1 centriolar and ciliogenesis-associated protein	HYLS1	219844	ENSG00000198331		Hydrolethalus syndrome, 236680 (3), Autosomal recessive	Hyls1 (MGI:1924082)
chr11	125893485	125903206	11q24.2	11q24.2	616283	PUS3, MRT55, NEDMIGS	Pseudouridylate synthase 3	PUS3	83480	ENSG00000110060		Neurodevelopmental disorder with microcephaly and gray sclerae, 617051 (3), Autosomal recessive	Pus3 (MGI:1914299)
chr11	125903328	125928843	11q24	11q24.2	607663	GRTH	Gonadotropin-regulated testicular RNA helicase	DDX25	29118	ENSG00000109832			Ddx25 (MGI:1353582)
chr11	125956821	126063352	11q24.2	11q24.2	608707	CDON, CDO, HPE11	Cell adhesion molecule-related/downregulated by oncogenes	CDON	50937	ENSG00000064309		Holoprosencephaly 11, 614226 (3), Autosomal dominant	Cdon (MGI:1926387)
chr11	126202096	126211650	11q24.2	11q24.2	617488	RPUSD4	RNA pseudouridylate synthase domain-containing protein 4	RPUSD4	84881	ENSG00000165526			Rpusd4 (MGI:1919239)
chr11	126211724	126262987	11q24.2	11q24.2	616587	FAM118B	Family with sequence similarity 118, member B	FAM118B	79607	ENSG00000197798			Fam118b (MGI:1924483)
chr11	126235930	126268895	11q23-q24	11q24.2	182180	SRPRA, SRPR, DP	SRP receptor subunit, alpha	SRPRA	6734	ENSG00000182934			Srpra (MGI:1914648)
chr11	126269154	126278126	11q24.2	11q24.2	613622	FOXRED1, MC1DN19	FAD-dependent oxidoreductase domain-containing protein 1	FOXRED1	55572	ENSG00000110074		Mitochondrial complex I deficiency, nuclear type 19, 618241 (3), Autosomal recessive	Foxred1 (MGI:2446262)
chr11	126283093	126294933	11q23-q24	11q24.2	606252	TIRAP, BACTS1	TIR domain-containing adaptor protein	TIRAP	114609	ENSG00000150455		{Malaria, protection against}, 611162 (3); {Tuberculosis, protection against}, 607948 (3); {Bacteremia, protection against}, 614382 (3)	Tirap (MGI:2152213)
chr11	126304060	126350005	11q24.2	11q24.2	610534	DCPS, HINT5, DCS1, ARS	Decapping enzyme, scavenger	DCPS	28960	ENSG00000110063		Al-Raqad syndrome, 616459 (3), Autosomal recessive	Dcps (MGI:1916555)
chr11	126355686	126414638	11q24.2	11q24.2	104240	ST3GAL4, SIAT4C, SIAT4, CGS23, NANTA3	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	ST3GAL4	6484	ENSG00000110080			St3gal4 (MGI:1316743)
chr11	126423358	127000870	11q24.2	11q24.2	607761	KIRREL3, NEPH2, KIAA1867, KIRRE	Kirre-like nephrin family adhesion molecule 3	KIRREL3	84623	ENSG00000149571			Kirrel3 (MGI:1914953)
chr11	128458765	128587558	11q23.3	11q24.3	164720	ETS1	ETS protooncogene 1, transcription factor	ETS1	2113	ENSG00000134954	shown by HSR; 19cM distal to THY1; Ewing sarcoma breakpoint region-2 splices to EWSR1		Ets1 (MGI:95455)
chr11	128685351	128813267	11q24	11q24.3	193067	FLI1, BDPLT21	FLI1 protooncogene, ETS transcription factor	FLI1	2313	ENSG00000151702	fused with EWS in Ewing sarcoma	Bleeding disorder, platelet-type, 21, 617443 (3), Autosomal recessive, Autosomal dominant	Fli1 (MGI:95554)
chr11	128691672	128696023	11q24.1	11q24.3	615815	SENCR, lncRNA9	Smooth muscle- and endothelial cell-enriched migration/differentiation-associated long noncoding RNA	SENCR	100507392	ENSG00000254703			
chr11	128838020	128867296	11q24	11q24.3	600359	KCNJ1, ROMK1	Potassium inwardly-rectifying channel, subfamily J, member 1	KCNJ1	3758	ENSG00000151704		Bartter syndrome, type 2, 241200 (3), Autosomal recessive	Kcnj1 (MGI:1927248)
chr11	128891356	128921163	11q24	11q24.3	600734	KCNJ5, GIRK4, KATP1, LQT13	Potassium inwardly-rectifying channel, subfamily J, member 5	KCNJ5	3762	ENSG00000120457		Long QT syndrome 13, 613485 (3), Autosomal dominant; Hyperaldosteronism, familial, type III, 613677 (3), Autosomal dominant	Kcnj5 (MGI:104755)
chr11	128934731	128942871	11q24	11q24.3	605426	TP53AIP1, P53AIP1	Tumor protein p53-regulated apoptosis-inducing protein 1	TP53AIP1	63970	ENSG00000120471			
chr11	128965060	129279632	11q24.3	11q24.3	608541	ARHGAP32, RICS, GRIT, p200RHOGAP, p250GAP	Rho GTPase activating protein 32	ARHGAP32	9743	ENSG00000134909			Arhgap32 (MGI:2450166)
chr11	129375233	129452279	11q25	11q24.3	604823	BARX2	BARX homeobox 2	BARX2	8538	ENSG00000043039			Barx2 (MGI:109617)
chr11	129815848	129860003	11q24.3	11q24.3	621075	TMEM45B	Transmembrane protein 45B	TMEM45B	120224	ENSG00000151715			Tmem45b (MGI:2384574)
chr11	129863636	129895578	11q24-q25	11q24.3	164013	NFRKB	Nuclear factor related to kappa B-binding protein	NFRKB	4798	ENSG00000170322	most telomeric 11q marker		Nfrkb (MGI:2442410)
chr11	129899711	130002835	11q24.3	11q24.3	618319	PRDM10, TRIS, KIAA1231, BHD2	PR domain-containing protein 10	PRDM10	56980	ENSG00000170325	mutation identified in 1 BHD2 family	?Birt-Hogg-Dube syndrome 2, 620459 (3), Autosomal dominant	Prdm10 (MGI:2682952)
chr11	130069894	130144805	11q24	11q24.3	104776	APLP2	Amyloid beta (A4) precursor-like protein-2	APLP2	334	ENSG00000084234			Aplp2 (MGI:88047)
chr11	130159782	130210362	11q24-q25	11q24.3	606797	ST14, MTSP1, ARCI11	ST14 transmembrane serine protease matriptase	ST14	6768	ENSG00000149418		Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive	St14 (MGI:1338881)
chr11	130404923	130428609	11q25	11q24.3	605175	ADAMTS8, METH2	ADAM metallopeptidase domain with thrombospondin type 1 motif, 8	ADAMTS8	11095	ENSG00000134917			Adamts8 (MGI:1353468)
chr11	130448645	130476645	11q24.3	11q24.3	607509	ADAMTS15, DA12	ADAM metallopeptidase domain with thrombospondin type 1 motif, 15	ADAMTS15	170689	ENSG00000166106		Arthrogryposis, distal, type 12, 620545 (3), Autosomal recessive	Adamts15 (MGI:2449569)
chr11	130900001	135086622	11q25-qter		604060	DFNB20	Deafness, autosomal recessive 20		1713			Deafness, autosomal recessive 20, 604060 (2), Autosomal recessive	
chr11	131370615	132336822	11q25	11q25	607938	NTM, HNT	Neurotrimin	NTM	50863	ENSG00000182667			Ntm (MGI:2446259)
chr11	132414981	133532501	11q25	11q25	600632	OPCML	Opioid-binding protein/cell adhesion molecule-like	OPCML	4978	ENSG00000183715		Ovarian cancer, somatic, 167000 (3)	Opcml (MGI:97397)
chr11	133835930	133845513	11q25	11q25	609805	SPATA19	Spermatogenesis-associated protein 19	SPATA19	219938	ENSG00000166118			Spata19 (MGI:1922719)
chr11	133896438	133956968	11q25	11q25	613773	IGSF9B, KIAA1030	Immunoglobulin superfamily, member 9B	IGSF9B	22997	ENSG00000080854			Igsf9b (MGI:2685354)
chr11	134069072	134152001	11q25	11q25	606871	JAM3	Junctional adhesion molecule 3	JAM3	83700	ENSG00000166086		Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3), Autosomal recessive	Jam3 (MGI:1933825)
chr11	134150113	134225461	11q25	11q25	609276	NCAPD3, CAPD3, KIAA0056, MCPH22	Non-SMC condensin II complex subunit D3	NCAPD3	23310	ENSG00000151503		Microcephaly 22, primary, autosomal recessive, 617984 (3), Autosomal recessive	Ncapd3 (MGI:2142989)
chr11	134224671	134247788	11q25	11q25	610027	VPS26B	VPS26 retromer complex component B	VPS26B	112936	ENSG00000151502			Vps26b (MGI:1917656)
chr11	134248282	134253352	11q25	11q25	613739	THYN1, HSPC144, THY28	Thymocyte nuclear protein 1	THYN1	29087	ENSG00000151500			Thyn1 (MGI:1925112)
chr11	134253568	134265855	11q25	11q25	604773	ACAD8	Acyl-CoA dehydrogenase family, member 8	ACAD8	27034	ENSG00000151498		Isobutyryl-CoA dehydrogenase deficiency, 611283 (3), Autosomal recessive	Acad8 (MGI:1914198)
chr11	134378504	134412242	11q25	11q25	151290	B3GAT1, GLCATP, CD57, HNK1	Beta-1,3-glucuronyltransferase 1	B3GAT1	27087	ENSG00000109956			B3gat1 (MGI:1924148)
chr11	1	135086622	Chr.11		606049	AOCH	Acromegaloid features, overgrowth, cleft palate, and hernia		93956		pericentric inversion (46,XY,inv(11)(p15.3;q23.3))	Acromegaloid features, overgrowth, cleft palate, and hernia, 606049 (2)	
chr12	1	14600000	12p13		601151	DDX12P, CHLR2	DEAD/H-box helicase 12, pseudogene	DDX12P	440081				
chr12	1	10000000	12p13.3		612372	MAFD9	Major affective disorder 9		100196917		associated with rs1006737	{Major affective disorder-9, susceptibility to}, 612372 (2)	
chr12	1	35500001	12p		601803	PKS	Pallister-Killian syndrome					Pallister-Killian syndrome, 601803 (4), Somatic mosaicism	
chr12	66767	178455	12p13.33	12p13.33	612118	IQSEC3, KIAA1110	IQ motif- and SEC7 domain-containing protein 3	IQSEC3	440073	ENSG00000120645			Iqsec3 (MGI:2677208)
chr12	183848	214157	12p13	12p13.33	603080	SLC6A12	Solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12	SLC6A12	6539	ENSG00000111181			Slc6a12 (MGI:95628)
chr12	220622	262836	12p13.3	12p13.33	615097	SLC6A13, GAT2, GAT3	Solute carrier family 6 (neurotransmitter transporter, GABA), member 13	SLC6A13	6540	ENSG00000010379			Slc6a13 (MGI:95629)
chr12	280057	389320	12p11	12p13.33	180202	KDM5A, JARID1A, RBP2, RBBP2, NEDEHC	Lysine demethylase 5A	KDM5A	5927	ENSG00000073614		El Hayek-Chahrour neurodevelopmental syndrome, 620820 (3), Autosomal recessive	Kdm5a (MGI:2136980)
chr12	459939	563509	12p13.3	12p13.33	612220	B4GALNT3	Beta-1,4-N-acetylgalactosaminyltransferase 3	B4GALNT3	283358	ENSG00000139044			B4galnt3 (MGI:3041155)
chr12	564296	663445	12p13	12p13.33	607297	NINJ2	Nerve injury-induced protein 2	NINJ2	4815	ENSG00000171840			Ninj2 (MGI:1352751)
chr12	752579	911452	12p13	12p13.33	605232	WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2	WNK lysine deficient protein kinase 1	WNK1	65125	ENSG00000060237		Neuropathy, hereditary sensory and autonomic, type II, 201300 (3), Autosomal recessive; Pseudohypoaldosteronism, type IIC, 614492 (3), Autosomal dominant	Wnk1 (MGI:2442092)
chr12	911736	991122	12p13-p12.2	12p13.33	600392	RAD52	RAD52 homolog, DNA repair protein	RAD52	5893	ENSG00000002016			Rad52 (MGI:101949)
chr12	989959	1495933	12p13.33	12p13.33	607127	ERC1, RAB6IP2, KIAA1081	ELKS/RAB6-interacting/CAST family, member 1	ERC1	23085	ENSG00000082805			Erc1 (MGI:2151013)
chr12	1565993	1594842	12p13.33	12p13.33	609081	FBXL14, FBL14	F-box and leucine-rich repeat protein 14	FBXL14	144699	ENSG00000171823			Fbxl14 (MGI:2141676)
chr12	1617056	1647212	12p13.3	12p13.33	606361	WNT5B	Wingless-type MMTV integration site family, member 5B	WNT5B	81029	ENSG00000111186			Wnt5b (MGI:98959)
chr12	1691070	1788674	12p13.31	12p13.33	607946	ADIPOR2, FLJ21432	Adiponectin receptor 2	ADIPOR2	79602	ENSG00000006831			Adipor2 (MGI:93830)
chr12	1791963	1918652	12p13.3	12p13.33	608171	CACNA2D4, RCD4	Calcium channel, voltage-dependent, alpha-2/delta subunit 4	CACNA2D4	93589	ENSG00000151062		Retinal cone dystrophy 4, 610478 (3), Autosomal recessive	Cacna2d4 (MGI:2442632)
chr12	1941591	2004457	12p13.33	12p13.33	609843	DCP1B, DCP1	Decapping enzyme 1, S. cerevisiae, homolog of	DCP1B	196513	ENSG00000151065			Dcp1b (MGI:2442404)
chr12	1970780	2697950	12p13.3	12p13.33	114205	CACNA1C, CACNL1A1, CCHL1A1, TS, LQT8, NEDHLSS	Calcium channel, voltage-dependent, L type, alpha 1C subunit	CACNA1C	775	ENSG00000151067		Timothy syndrome, 601005 (3), Autosomal dominant; Long QT syndrome 8, 618447 (3), Autosomal dominant; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, 620029 (3), Autosomal dominant; Brugada syndrome 3, 611875 (3), Autosomal dominant	Cacna1c (MGI:103013)
chr12	2794970	2805423	12p13.33	12p13.33	600611	FKBP4, FKBP52	FK506-binding protein 4	FKBP4	2288	ENSG00000004478			Fkbp4 (MGI:95543)
chr12	2812668	2859791	12p13.33	12p13.33	617421	ITFG2, FGGAP1	Integrin-alpha FG-GAP repeat-containing protein 2	ITFG2	55846	ENSG00000111203			Itfg2 (MGI:1915450)
chr12	2825348	2835035	12p13.33	12p13.33	621054	NRIP2, NIX1	Nuclear receptor-interacting protein 2	NRIP2	83714	ENSG00000053702			Nrip2 (MGI:1891884)
chr12	2857680	2877174	12p13	12p13.33	602341	FOXM1, FKHL16, HFH11	Forkhead box M1	FOXM1	2305	ENSG00000111206			Foxm1 (MGI:1347487)
chr12	2876265	2889524	12p13.33	12p13.33	614085	RHNO1, RHINO, C12orf32	Rad9-, Rad1-, and Hus1-interacting nuclear orphan 1	RHNO1	83695	ENSG00000171792			Rhno1 (MGI:1915315)
chr12	2890891	2941138	12p13	12p13.33	604730	TULP3, HRCDF	TUB-like protein 3	TULP3	7289	ENSG00000078246		Hepatorenocardiac degenerative fibrosis, 619902 (3), Autosomal recessive	Tulp3 (MGI:1329045)
chr12	2959397	3040676	12p13.3-p13.2	12p13.33	601714	TEAD4, TCF13L1, RTEF1	TEA domain family, member 4	TEAD4	7004	ENSG00000197905			Tead4 (MGI:106907)
chr12	3077379	3286559	12p13.32	12p13.33-p13.32	613137	TSPAN9, NET5	Tetraspanin 9	TSPAN9	10867	ENSG00000011105			Tspan9 (MGI:1924558)
chr12	3381349	3593973	12p13.3	12p13.32	610086	PRMT8, HRMT1L3, HRMT1L4	Protein arginine methyltransferase 8	PRMT8	56341	ENSG00000111218			Prmt8 (MGI:3043083)
chr12	3615328	3753109	12p13.32	12p13.32	614178	EFCAB4B, CRACR2A	EF-hand calcium-binding domain-containing protein 4B	CRACR2A	84766	ENSG00000130038			Cracr2a (MGI:2685919)
chr12	3808861	3873399	12p13.3	12p13.32	616706	PARP11, ARTD11	Poly(ADP-ribose) polymerase family, member 11	PARP11	57097	ENSG00000111224			Parp11 (MGI:2141505)
chr12	4273762	4305353	12p13	12p13.32	123833	CCND2, MPPH3	Cyclin D2	CCND2	894	ENSG00000118971		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3), Autosomal dominant	Ccnd2 (MGI:88314)
chr12	4321213	4360028	12p13.3	12p13.32	610775	TIGAR, C12orf5	TP53-induced glycolysis and apoptosis regulator	TIGAR	57103	ENSG00000078237			Tigar (MGI:2442752)
chr12	4368227	4379712	12p13.3	12p13.32	605380	FGF23, ADHR, HPDR2, PHPTC, HFTC2	Fibroblast growth factor 23	FGF23	8074	ENSG00000118972		Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3), Autosomal recessive; Hypophosphatemic rickets, autosomal dominant, 193100 (3), Autosomal dominant	Fgf23 (MGI:1891427)
chr12	4434142	4445815	12p13	12p13.32	134921	FGF6	Fibroblast growth factor-6	FGF6	2251	ENSG00000111241			Fgf6 (MGI:95520)
chr12	4487735	4538469	12p13.3	12p13.32	616082	C12orf4, MRT66	Chromosome 12 open reading frame 4	FERRY3	57102	ENSG00000047621		Intellectual developmental disorder, autosomal recessive 66, 618221 (3), Autosomal recessive	D6Wsu163e (MGI:107893)
chr12	4538890	4560047	12p13.2-p13.1	12p13.32	603070	RAD51AP1, PIR51	Rad51-associated protein 1	RAD51AP1	10635	ENSG00000111247			Rad51ap1 (MGI:1098224)
chr12	4562208	4613875	12p13.32	12p13.32	609181	DYRK4	Dual-specificity tyrosine phosphorylation-regulated kinase 4	DYRK4	8798	ENSG00000010219			Dyrk4 (MGI:1330292)
chr12	4615518	4649051	12p13.32	12p13.32	604689	AKAP3, AKAP110, FSP95, SOB1, SPGF82	A-kinase anchor protein 3	AKAP3	10566	ENSG00000111254		Spermatogenic failure 82, 620353 (3), Autosomal recessive	Akap3 (MGI:1341149)
chr12	4649114	4694317	12p	12p13.32	603834	NDUFA9, MC1DN26	NADH-ubiquinone oxidoreductase subunit A9	NDUFA9	4704	ENSG00000139180		Mitochondrial complex I deficiency, nuclear type 26, 618247 (3), Autosomal recessive	Ndufa9 (MGI:1913358)
chr12	4720400	4772726	12p13.3	12p13.32	606250	GALNT8	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8	GALNT8	26290	ENSG00000130035			
chr12	4809334	4851112	12p13	12p13.32	176257	KCNA6	Potassium voltage-gated channel, shaker-related subfamily, member 6	KCNA6	3742	ENSG00000151079			Kcna6 (MGI:96663)
chr12	4909905	4918256	12p13	12p13.32	176260	KCNA1, AEMK, EA1	Potassium voltage-gated channel, shaker-related subfamily, member 1	KCNA1	3736	ENSG00000111262	close to VWF	Episodic ataxia/myokymia syndrome, 160120 (3), Autosomal dominant	Kcna1 (MGI:96654)
chr12	5043879	5046788	12p13	12p13.32	176267	KCNA5, ATFB7	Potassium voltage-gated channel, shaker-related subfamily, member 5	KCNA5	3741	ENSG00000130037		Atrial fibrillation, familial, 7, 612240 (3), Autosomal dominant	Kcna5 (MGI:96662)
chr12	5430332	5495299	12p13	12p13.31	162660	NTF3	Neurotrophin-3	NTF3	4908	ENSG00000185652			Ntf3 (MGI:97380)
chr12	5562655	5946232	12p13	12p13.31	610109	ANO2, TMEM16B, C12orf3	Anoctamin 2	ANO2	57101	ENSG00000047617			Ano2 (MGI:2387214)
chr12	5948877	6124670	12p13.3	12p13.31	613160	VWF, F8VWF	Coagulation factor VIII VWF (von Willebrand factor)	VWF	7450	ENSG00000110799	pseudogene on chr. 22	von Willebrand disease, type 1, 193400 (3), Autosomal dominant; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3), Autosomal recessive, Autosomal dominant; von Willebrand disease, type 3, 277480 (3), Autosomal recessive	Vwf (MGI:98941)
chr12	6199946	6238266	12p13	12p13.31	143030	CD9, MIC3	CD9 antigen (p24)	CD9	928	ENSG00000010278			Cd9 (MGI:88348)
chr12	6310332	6328506	12p13.31	12p13.31	611743	PLEKHG6, MYOGEF	Pleckstrin homology domain- and RhoGEF domain-containing protein G6	PLEKHG6	55200	ENSG00000008323			Plekhg6 (MGI:2682298)
chr12	6328771	6342076	12p13.2	12p13.31	191190	TNFRSF1A, TNFR1, TNFAR, FPF, MS5	Tumor necrosis factor receptor superfamily, member 1A	TNFRSF1A	7132	ENSG00000067182		{Multiple sclerosis, susceptibility to, 5}, 614810 (3); Periodic fever, familial, 142680 (3), Autosomal dominant	Tnfrsf1a (MGI:1314884)
chr12	6346847	6377359	12p13	12p13.31	600228	SCNN1A, BESC2, LIDLS3, PHA1B1	Sodium channel, epithelial 1, subunit alpha	SCNN1A	6337	ENSG00000111319	mutation identified in 1 LIDLS3 patient	Pseudohypoaldosteronism, type IB1, autosomal recessive, 264350 (3), Autosomal recessive; ?Liddle syndrome 3, 618126 (3), Autosomal dominant; Bronchiectasis with or without elevated sweat chloride 2, 613021 (3), Autosomal dominant	Scnn1a (MGI:101782)
chr12	6375160	6391566	12p13	12p13.31	600979	LTBR, TNFCR	Lymphotoxin-beta receptor (tumor necrosis factor C receptor)	LTBR	4055	ENSG00000111321	tightly linked to TNFR1 in mouse		Ltbr (MGI:104875)
chr12	6443892	6451713	12p13	12p13.31	186711	CD27, TNFRSF7, S152. LPFS2	CD27 antigen	CD27	939	ENSG00000139193		Lymphoproliferative syndrome 2, 615122 (3), Autosomal recessive	Cd27 (MGI:88326)
chr12	6451649	6472006	12p13.3	12p13.31	607081	TAPBPR	TAP-binding protein-related protein	TAPBPL	55080	ENSG00000139192			Tapbpl (MGI:2384853)
chr12	6462237	6470677	12p13.31	12p13.31	185880	VAMP1, SYB1, SPAX1, CMS25	Vesicle-associated membrane protein-1 (synaptobrevin-1)	VAMP1	6843	ENSG00000139190		Myasthenic syndrome, congenital, 25, 618323 (3), Autosomal recessive; Spastic ataxia 1, autosomal dominant, 108600 (3), Autosomal dominant	Vamp1 (MGI:1313276)
chr12	6491886	6493262	12p13.3-p13.1	12p13.31	611855	MRPL51, MRP64	Mitochondrial ribosomal protein L51	MRPL51	51258	ENSG00000111639			Mrpl51 (MGI:1913743)
chr12	6494102	6531955	12p13.31	12p13.31	615638	NCAPD2, CNAP1, KIAA0159, MCPH21	Non-SMC condensin I complex subunit D2	NCAPD2	9918	ENSG00000010292		Microcephaly 21, primary, autosomal recessive, 617983 (3), Autosomal recessive	Ncapd2 (MGI:1915548)
chr12	6510222	6510551	12p13.31	12p13.31	615639	SCARNA10	Small cajal body-specific RNA 10	SCARNA10	692148	ENSG00000239002	in intron 4 of NCAPD2		
chr12	6534517	6538371	12p13.31-p13.1	12p13.31	138400	GAPDH, GAPD	Glyceraldehyde-3-phosphate dehydrogenase	GAPDH	2597	ENSG00000111640	pseudogene on Xp21-q11		Gapdh,Gapdh-ps15,Gapdhrt,Gapdhrt2 (MGI:3708786,MGI:3782011,MGI:5434255,MGI:95640)
chr12	6538961	6556042	12p13.31	12p13.31	610495	IFFO1	Intermediate filament family orphan 1	IFFO1	25900	ENSG00000010295			Iffo1 (MGI:2444516)
chr12	6556871	6568291	12p13	12p13.31	164031	NOP2, NOL1	Nucleolar protein NOP2	NOP2	4839	ENSG00000111641			Nop2 (MGI:107891)
chr12	6570082	6607379	12p13	12p13.31	603277	CHD4, SIHIWES	Chromodomain helicase DNA-binding protein-4	CHD4	1108	ENSG00000111642		Sifrim-Hitz-Weiss syndrome, 617159 (3), Autosomal dominant	Chd4 (MGI:1344380)
chr12	6618835	6635959	12p13	12p13.31	606926	LPAR5, GPR92, GPR93, LPA5	Lysophosphatidic acid receptor 5	LPAR5	57121	ENSG00000184574			Lpar5 (MGI:2685918)
chr12	6638075	6647432	12p13.31	12p13.31	608352	ACRBP, SP32	Acrosin-binding protein	ACRBP	84519	ENSG00000111644			Acrbp (MGI:1859515)
chr12	6650301	6663119	12p13.31	12p13.31	608524	ING4	Inhibitor of growth-4	ING4	51147	ENSG00000111653			Ing4 (MGI:107307)
chr12	6666477	6689572	12p12	12p13.31	609951	ZNF384, CIZ, CAGH1, NMP4	Zinc finger protein 384	ZNF384	171017	ENSG00000126746			Zfp384 (MGI:2443203)
chr12	6692178	6700815	12p13.31	12p13.31	616065	PIANP, PANP, LEDA1	PILR-alpha-associated neural protein	PIANP	196500	ENSG00000139200			Pianp (MGI:2441908)
chr12	6724046	6731865	12p13.31	12p13.31	616009	COPS7A, CSN7	COP9 signalosome, subunit 7A	COPS7A	50813	ENSG00000111652			Cops7a (MGI:1349400)
chr12	6747996	6753141	12p13	12p13.31	601401	MLF2	Myeloid leukemia factor-2	MLF2	8079	ENSG00000089693			Mlf2 (MGI:1353554)
chr12	6766363	6770952	12p13.31	12p13.31	168440	PTMS	Parathymosin	PTMS	5763	ENSG00000159335	previously assigned to 17q12-q22		Ptms (MGI:1916452)
chr12	6772520	6778455	12p13.32	12p13.31	153337	LAG3	Lymphocyte activation gene-3	LAG3	3902	ENSG00000089692			Lag3 (MGI:106588)
chr12	6789528	6820799	12p13.31	12p13.31	186940	CD4, OKT4D, IMD79	CD4 antigen (p55)	CD4	920	ENSG00000010610	CD = \'cluster of differentiation\' = nomenclature of leukocyte differentiation antigens	Immunodeficiency 79, 619238 (3), Autosomal recessive; OKT4 epitope deficiency, 613949 (3)	Cd4 (MGI:88335)
chr12	6828407	6839847	12p13	12p13.31	610342	P3H3, LEPREL2	Prolyl 3-hydroxylase 3	P3H3	10536	ENSG00000110811			P3h3 (MGI:1315208)
chr12	6840925	6847393	12p13	12p13.31	139130	GNB3, CSNB1H	Guanine nucleotide-binding protein, beta polypeptide-3	GNB3	2784	ENSG00000111664		Night blindness, congenital stationary, type 1H, 617024 (3), Autosomal recessive; {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial	Gnb3 (MGI:95785)
chr12	6844798	6851286	12p13.31	12p13.31	607749	CDCA3, TOME1	Cell division cycle-associated protein 3	CDCA3	83461	ENSG00000111665			Cdca3 (MGI:1315198)
chr12	6852150	6866632	12p13	12p13.31	601447	USP5, ISOT	Ubiquitin-specific protease-5 (ubiquitin isopeptidase T)	USP5	8078	ENSG00000111667			Usp5 (MGI:1347343)
chr12	6867420	6870948	12p13	12p13.31	190450	TPI1, TPID	Triosephosphate isomerase-1	TPI1	7167	ENSG00000111669		Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3), Autosomal recessive	Tpi1 (MGI:98797)
chr12	6870935	6873303	12p13.31	12p13.31	611658	SPSB2, SSB2	SPRY domain- and SOCS box-containing 2	SPSB2	84727	ENSG00000111671			Spsb2 (MGI:1315199)
chr12	6904822	6914229	12p13.31	12p13.31	620708	LRRC23, SPGF92	Leucine-rich repeat-containing protein 23	LRRC23	10233	ENSG00000010626		Spermatogenic failure 92, 620848 (3), Autosomal recessive	Lrrc23 (MGI:1315192)
chr12	6914580	6923697	12p13	12p13.31	131360	ENO2	Enolase-2, gamma, neuronal	ENO2	2026	ENSG00000111674			Eno2 (MGI:95394)
chr12	6924459	6942321	12p13.31	12p13.31	607462	ATN1, DRPLA, HRS, NOD, CHEDDA	Atrophin 1	ATN1	1822	ENSG00000111676		Dentatorubral-pallidoluysian atrophy, 125370 (3), Autosomal dominant; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 (3), Autosomal dominant	Atn1 (MGI:104725)
chr12	6943433	6946003	12p13	12p13.31	615140	C12orf57, C10, TEMTYS	Chromosome 12 open reading frame 57	C12orf57	113246	ENSG00000111678		Temtamy syndrome, 218340 (3), Autosomal recessive	Grcc10 (MGI:1315201)
chr12	6943816	6943878	12p13.31	12p13.31	617876	RNU7-1, RNU7, AGS9	RNA, U7 small nuclear, 1	RNU7-1	100147744	ENSG00000238923		Aicardi-Goutieres syndrome 9, 619487 (3), Autosomal recessive	
chr12	6946577	6961316	12p13	12p13.31	176883	PTPN6	Protein tyrosine phosphatase, nonreceptor-type, 6	PTPN6	5777	ENSG00000111679			Ptpn6 (MGI:96055)
chr12	6963699	6963766	12p13.31	12p13.31	612092	MIR200C, MIRN200C	Micro RNA 200C	MIR200C	406985	ENSG00000207713			Mir200c (MGI:3618750)
chr12	6964097	6964191	12p13.31	12p13.31	612093	MIR141, MIRN141	Micro RNA 141	MIR141	406933	ENSG00000207708			Mir141 (MGI:2676826)
chr12	6965327	6970753	12p13	12p13.31	610704	PHB2, REA	Prohibitin 2	PHB2	11331	ENSG00000215021			Phb2 (MGI:102520)
chr12	6967337	6967606	12p13.31	12p13.31	615642	SCARNA12	Small Cajal body-specific RNA 12	SCARNA12	677777	ENSG00000238795			
chr12	6970913	6997428	12p13	12p13.31	611531	EMG1, NEP1, C2F, BWCNS	EMG1 N1-specific pseudouridine methyltransferase	EMG1	10436	ENSG00000126749		Bowen-Conradi syndrome, 211180 (3), Autosomal recessive	Emg1 (MGI:1315195)
chr12	6976185	7018476	12p13.31	12p13.31	611950	LPCAT3, MBOAT5, NESSY	Lysophosphatidylcholine acyltransferase 3	LPCAT3	10162	ENSG00000111684			Lpcat3 (MGI:1315211)
chr12	7060718	7071032	12p13	12p13.31	120580	C1S, EDSPD2	Complement component-1, s subcomponent	C1S	716	ENSG00000182326		C1s deficiency, 613783 (3); Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3), Autosomal dominant	C1s1,C1s2 (MGI:1355312,MGI:3644269)
chr12	7080219	7092445	12p13	12p13.31	613785	C1R, EDSPD1	Complement component-1, r subcomponent	C1R	715	ENSG00000159403		Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3), Autosomal dominant	C1ra,C1rb (MGI:1355313,MGI:3779804)
chr12	7094554	7109214	12p13.31	12p13.31	608974	C1RL, CLSPA, C1RLP	Complement component C1r-like protein	C1RL	51279	ENSG00000139178			C1rl (MGI:2660692)
chr12	7115736	7130005	12p13.31	12p13.31	611866	RBP5, CRBP3	Retinol-binding protein 5	RBP5	83758	ENSG00000139194			
chr12	7129093	7158945	12p13	12p13.31	611324	CLSTN3, KIAA0726	Calsyntenin 3	CLSTN3	9746	ENSG00000139182			Clstn3 (MGI:2178323)
chr12	7188653	7218574	12p13.3	12p13.31	600414	PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5	Peroxisome biogenesis factor 5	PEX5	5830	ENSG00000139197		Peroxisome biogenesis disorder 2B, 202370 (3), Autosomal recessive; Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 5, 616716 (3), Autosomal recessive	Pex5 (MGI:1098808)
chr12	7304072	7328719	12p13.31	12p13.31	614360	ACSM4	Acyl-CoA synthetase medium-chain family, member 4	ACSM4	341392	ENSG00000215009			Acsm4 (MGI:2681844)
chr12	7318768	7444153	12p13.3	12p13.31	606079	CD164L1, CD163B, M160	CD164 antigen-like 1	CD163L1	283316	ENSG00000177675			
chr12	7470811	7503777	12p13.3	12p13.31	605545	CD163	CD163 antigen (hemoglobin scavenger receptor)	CD163	9332	ENSG00000177575			Cd163 (MGI:2135946)
chr12	7649400	7670599	12p13.1	12p13.31	600130	APOBEC1, BEDP	Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	APOBEC1	339	ENSG00000111701			Apobec1 (MGI:103298)
chr12	7689784	7695775	12p13.1	12p13.31	606522	GDF3, KFS3, MCOPCB6, MCOP7	Growth differentiation factor 3	GDF3	9573	ENSG00000184344		Klippel-Feil syndrome 3, autosomal dominant, 613702 (3); Microphthalmia, isolated, with coloboma 6, 613703 (3), Autosomal dominant; Microphthalmia, isolated 7, 613704 (3), Autosomal dominant	Gdf3 (MGI:95686)
chr12	7711433	7717559	12p13.31	12p13.31	608408	DPPA3	Developmental pluripotency-associated gene 3	DPPA3	359787	ENSG00000187569			Dppa3 (MGI:1920958)
chr12	7729383	7749541	12p13.2-p12.3	12p13.31	606677	CLEC4C, CLECSF11, DLEC, BDCA2	C-type lectin domain family 4, member C	CLEC4C	170482	ENSG00000198178			Clec4b1 (MGI:1917060)
chr12	7765216	7774121	12p13.31	12p13.31	620692	NANOGNB	NANOG enighbor homeobox	NANOGNB	360030	ENSG00000205857			
chr12	7789402	7799146	12p13.31	12p13.31	607937	NANOG	NANOG homeobox	NANOG	79923	ENSG00000111704			Nanog (MGI:1919200)
chr12	7812514	7891196	12p13.3	12p13.31	611039	SLC2A14, GLUT14	Solute carrier family 2 (facilitated glucose transporter), member 14	SLC2A14	144195	ENSG00000173262			Slc2a3 (MGI:95757)
chr12	7919230	7936187	12p13.3	12p13.31	138170	SLC2A3, GLUT3	Solute carrier family 2 (facilitated glucose transporter), member 3	SLC2A3	6515	ENSG00000059804	pseudogene SLC2A3P on 5q34		Slc2a3 (MGI:95757)
chr12	8032716	8055517	12p13.31	12p13.31	619162	FOXJ2, FHX	Forkhead box J2	FOXJ2	55810	ENSG00000065970			Foxj2 (MGI:1926805)
chr12	8056844	8066359	12p13.31	12p13.31	605246	C3AR1, C3AR	Complement component 3a receptor 1	C3AR1	719	ENSG00000171860			C3ar1 (MGI:1097680)
chr12	8082274	8097881	12p13.31	12p13.31	611623	NECAP1, DEE21	NECAP endocytosis-associated protein 1	NECAP1	25977	ENSG00000089818		Developmental and epileptic encephalopathy 21, 615833 (3), Autosomal recessive	Necap1 (MGI:1914852)
chr12	8102907	8138607	12p13	12p13.31	605306	CLEC4A, CLECSF6, DCIR, DDB27	C-type lectin domain family 4, member A	CLEC4A	50856	ENSG00000111729			Clec4a1,Clec4a2,Clec4a3,Clec4a4 (MGI:1349412,MGI:1920399,MGI:3036291,MGI:3624119)
chr12	8221260	8227618	12p13.31	12p13.31	613041	FAM90A1	Family with sequence similarity 90, member A1	FAM90A1	55138	ENSG00000171847	other family members on chr. 8		Fam90a1b (MGI:1921682)
chr12	8455962	8478330	12p13.31-p31.2	12p13.31	613579	CLEC6A, CLEC4N	C-type lectin domain family 6, member A	CLEC6A	93978	ENSG00000205846			Clec4n (MGI:1861231)
chr12	8513503	8531696	12p13	12p13.31	609964	CLEC4D, CLECSF8, CLEC6	C-type lectin domain family 4, member D	CLEC4D	338339	ENSG00000166527			Clec4d (MGI:1298389)
chr12	8533275	8540905	12p13	12p13.31	609962	CLEC4E, MINCLE	C-type lectin domain family 4, member E	CLEC4E	26253	ENSG00000166523			Clec4e (MGI:1861232)
chr12	8602170	8612859	12p13	12p13.31	605257	AICDA, AID, HIGM2	Activation-induced cytidine deaminase	AICDA	57379	ENSG00000111732		Immunodeficiency with hyper-IgM, type 2, 605258 (3), Autosomal recessive	Aicda (MGI:1342279)
chr12	8645943	8662826	12p13.1-p12.3	12p13.31	601103	MFAP5, MAGP2, AAT9	Microfibril-associated protein 5	MFAP5	8076	ENSG00000197614		Aortic aneurysm, familial thoracic 9, 616166 (3), Autosomal dominant	Mfap5 (MGI:1354387)
chr12	8668638	8783091	12p13.31	12p13.31	614054	RIMKLB, NAAGS	Ribosomal modification protein RimK-like family, member B	RIMKLB	57494	ENSG00000166532			Rimklb (MGI:1918325)
chr12	8822621	8887459	12p13.31	12p13.31	610627	A2ML1, OMS	Alpha-2-macroglobulin-like 1	A2ML1	144568	ENSG00000166535		{Otitis media, susceptibility to}, 166760 (3), Autosomal dominant	
chr12	8913843	8941467	12p13.31	12p13.31	602978	PHC1, EDR1, HPH1, RAE28, MCPH11	Polyhomeotic-like 1	PHC1	1911	ENSG00000111752	mutations identified in 1 family	?Microcephaly 11, primary, autosomal recessive, 615414 (3), Autosomal recessive	Phc1 (MGI:103248)
chr12	8940361	8949645	12p13	12p13.31	154540	M6PR	Mannose-6-phosphate receptor, cation-dependent	M6PR	4074	ENSG00000003056			M6pr (MGI:96904)
chr12	8950044	9215570	12p13.31	12p13.31	604874	KLRG1, MAFA, MAFAL	Killer cell lectin-like receptor, subfamily G, member 1	KLRG1	10219	ENSG00000139187			Klrg1 (MGI:1355294)
chr12	9067708	9116229	12p13.3-p12.3	12p13.31	103950	A2M	Alpha-2-macroglobulin	A2M	2	ENSG00000175899	cluster of genes		A2m (MGI:2449119)
chr12	9136472	9208395	12p13-p12.2	12p13.31	176420	PZP	Pregnancy zone protein	PZP	5858	ENSG00000126838			Gm7298,Mug1,Mug2 (MGI:3648717,MGI:99836,MGI:99837)
chr12	9594551	9607916	12p13-p12	12p13.31	602890	KLRB1, NKRP1A	Killer cell lectin-like receptor, subfamily B, member 1	KLRB1	3820	ENSG00000111796			Klrb1,Klrb1a,Klrb1b,Klrb1c,Klrb1f (MGI:107538,MGI:107539,MGI:107540,MGI:2442965,MGI:96877)
chr12	9669713	9699553	12p13	12p13.31	605659	CLEC2D, LLT1	C-type lectin domain family 2, member D	CLEC2D	29121	ENSG00000069493			Clec2d,Clec2e,Clec2f,Clec2g,Clec2h,Clec2i (MGI:1918059,MGI:2135589,MGI:2136650,MGI:2136934,MGI:3028921,MGI:3522133)
chr12	9712973	9733296	12p13.31	12p13.31	607467	CLECL1, DCAL1	C-type lectin-like 1	CLECL1P	160365				
chr12	9752486	9760901	12p13-p12	12p13.31	107273	CD69	CD69 antigen (p60, early T-cell activation antigen)	CD69	969	ENSG00000110848			Cd69 (MGI:88343)
chr12	9800052	9845005	12p13.2-p12.3	12p13.31	605029	KLRF1	Killer cell lectin-like receptor, subfamily F, member 1	KLRF1	51348	ENSG00000150045			
chr12	9852369	9869354	12p13-p12	12p13.31	603242	CLEC2B, CLECSF2, AICL	C-type lectin domain family 2, member B	CLEC2B	9976	ENSG00000110852			
chr12	9877742	9932370	12p13.31	12p13.31	612087	CLEC2A	C-type lectin domain family 2, member A	CLEC2A	387836	ENSG00000188393			Clec2f (MGI:3522133)
chr12	9881489	9895833	12p13.31	12p13.31	618814	KLRF2	Killer cell lectin-like receptor F2	KLRF2	100431172	ENSG00000256797			
chr12	9951268	10006150	12p13	12p13.31-p13.2	612088	CLEC12A, MICL	C-type lectin domain family 12, member A	CLEC12A	160364	ENSG00000172322			Clec12a (MGI:3040968)
chr12	9993075	10001899	12p13	12p13.31-p13.2	606783	CLEC2B, CLEC2	C-type lectin domain family 1, member B	CLEC1B	51266	ENSG00000165682			Clec1b (MGI:1913287)
chr12	10000001	27600000	12p13.2-p11.23		610143	DFNB62	Deafness, autosomal recessive 62		692220		between D12S358 and D12S1042	Deafness, autosomal recessive 62, 610143 (2), Autosomal recessive	
chr12	10000001	113900000	12p13.2-q24.1		601458	IBD2	Inflammatory bowel disease 2		3378		mainly ulcerative colitis	{Inflammatory bowel disease 2}, 601458 (2)	
chr12	10000001	12600000	12p13.2		168710	PCS	Parotid proline-rich salivary protein Pc				linked to PRB2		
chr12	10000001	12600000	12p13.2		613967	TAS2R45, T2R45	Taste receptor, type 2, member 45	TAS2R45	259291				Tas2r120 (MGI:2681256)
chr12	10006209	10018800	12p13.2	12p13.2	617573	CLEC12B	C-type lectin domain family 12, member B	CLEC12B	387837	ENSG00000256660			Clec12b (MGI:1918433)
chr12	10030682	10066031	12p13.31	12p13.2	612252	CLEC9A, DNGR1	C-type lectin domain family 9, member A	CLEC9A	283420	ENSG00000197992			Clec9a (MGI:2444608)
chr12	10069554	10098985	12p13	12p13.2	606782	CLEC1A, CLEC1	C-type lectin domain family 1, member A	CLEC1A	51267	ENSG00000150048		{Aspergillosis, susceptibility to}, 614079 (3)	Clec1a (MGI:2444151)
chr12	10116777	10130304	12p13.2-p12.3	12p13.2	606264	CLEC7A, CLECSF12, DECTIN1, CANDF4	C-type lectin domain family 7, member A	CLEC7A	64581	ENSG00000172243	in natural killer gene complex	Candidiasis, familial, 4, autosomal recessive, 613108 (3), Autosomal recessive; {Aspergillosis, susceptibility to}, 614079 (3)	Clec7a (MGI:1861431)
chr12	10158301	10176266	12p13-p12	12p13.2	602601	OLR1, LOX1	Low density lipoprotein, oxidized, receptor 1	OLR1	4973	ENSG00000173391		{Myocardial infarction, susceptibility to}, 608446 (3)	Olr1 (MGI:1261434)
chr12	10212877	10223128	12p12.3	12p13.2	607420	GABARAPL1, GEC1	GABA-A receptor-associated protein-like protein 1	GABARAPL1	23710	ENSG00000139112			Gabarapl1 (MGI:1914980)
chr12	10238961	10329608	12p13.2-p12.3	12p13.2	602894	KLRD1, CD94	Killer cell lectin-like receptor, subfamily D, member 1	KLRD1	3824	ENSG00000134539			Klrd1 (MGI:1196275)
chr12	10372353	10390041	12p13.2-p12.3	12p13.2	611817	KLRK1, NKG2D	Kill cell lectin-like receptor, subfamily K, member 1	KLRK1	22914	ENSG00000213809			Klrk1 (MGI:1196250)
chr12	10407384	10409757	12p13.2-p12.3	12p13.2	602893	KLRC4, NKG2F, D12S2489E	Killer cell lectin-like receptor, subfamily C, member 4	KLRC4	8302	ENSG00000183542			Klrc1,Klrc2,Klrc3 (MGI:1336161,MGI:1336162,MGI:1929720)
chr12	10412315	10420595	12p13.2-p12.3	12p13.2	602892	KLRC3, NKG2E	Killer cell lectin-like receptor, subfamily C, member 3	KLRC3	3823	ENSG00000205810			Klrc3 (MGI:1929720)
chr12	10430599	10436010	12p13.2-p12.3	12p13.2	602891	KLRC2, NKG2C	Killer cell lectin-like receptor, subfamily C, member 2	KLRC2	3822	ENSG00000205809			Klrc2 (MGI:1336162)
chr12	10442264	10454685	12p13.2-p12.3	12p13.2	161555	KLRC1, NKG2, NKG2A	Killer cell lectin-like receptor, subfamily C, member 1	KLRC1	3821	ENSG00000134545	family of at least 3 genes on 12		Klrc1 (MGI:1336161)
chr12	10588478	10599835	12p13-p12	12p13.2	604274	KLRA1P, KLRA1, LY49L	Killer cell lectin like receptor A1, pseudogene	KLRA1P	10748		?functional		
chr12	10599524	10613609	12p13.2	12p13.2	619552	MAGOHB	MAGO homolog B, exon junction complex subunit	MAGOHB	55110	ENSG00000111196			Magohb (MGI:1913691)
chr12	10618923	10674052	12p13.2	12p13.2	611433	STYK1, NOK	Serine/threonine/tyrosine kinase 1	STYK1	55359	ENSG00000060140			Styk1 (MGI:2141396)
chr12	10699089	10723323	12p13.1	12p13.2	603437	YBX3, CSDA, DBPA	Y-box binding protein 3	YBX3	8531	ENSG00000060138			Ybx3 (MGI:2137670)
chr12	10801532	10802627	12p13	12p13.2	604793	TRB4, T2R7	Taste receptor, family B, member 4	TAS2R7	50837	ENSG00000121377			Tas2r130 (MGI:2681278)
chr12	10806051	10807286	12p13	12p13.2	604794	TRB5, T2R8	Taste receptor, family B, member 5	TAS2R8	50836	ENSG00000121314			
chr12	10809094	10810168	12p13	12p13.2	604795	TRB6, T2R9	Taste receptor, family B, member 6	TAS2R9	50835	ENSG00000121381			
chr12	10825219	10826358	12p13	12p13.2	604791	TRB2, T2R10	Taste receptor, family B, member 2	TAS2R10	50839	ENSG00000121318			Tas2r104,Tas2r105,Tas2r106,Tas2r107,Tas2r114 (MGI:2681185,MGI:2681195,MGI:2681203,MGI:2681207,MGI:2681218)
chr12	10845849	10849475	Chr.12	12p13.2	605359	PROL4, LPRP	Proline rich 4, lacrimal	PRR4	11272	ENSG00000111215			Prb1a,Prb1b,Prb1c (MGI:1927478,MGI:2681872,MGI:3645847)
chr12	10880965	11171611	12p13.2	12p13.2	168730	PRH1	Proline-rich protein HaeIII, subfamily-1	PRH1	5554	ENSG00000231887	Pa, Db, PIF alleles		
chr12	10907926	10909562	12p13	12p13.2	604792	TRB3, T2R13	Taste receptor, family B, member 3	TAS2R13	50838	ENSG00000212128			Tas2r102,Tas2r121,Tas2r124 (MGI:2681171,MGI:2681259,MGI:2681267)
chr12	10929236	10934845	12p13.2	12p13.2	168790	PRH2	Proline-rich protein HaeIII, subfamily-2	PRH2	5555	ENSG00000134551	Pr allele		
chr12	10937410	10939263	12p13	12p13.2	604790	TRB1, T2R14	Taste receptor, family B, member 1	TAS2R14	50840	ENSG00000212127			Tas2r103,Tas2r109,Tas2r110,Tas2r113,Tas2r115,Tas2r116,Tas2r117,Tas2r123,Tas2r125,Tas2r129,Tas2r140 (MGI:1890257,MGI:1890258,MGI:2681214,MGI:2681216,MGI:2681217,MGI:2681223,MGI:2681242,MGI:2681264,MGI:2681269,MGI:2681276,MGI:2681298)
chr12	10985913	10986912	12p13.2	12p13.2	609627	TAS2R50, T2R50, TAS2R51, T2R51	Taste receptor, type 2, member 50	TAS2R50	259296	ENSG00000212126			Tas2r120 (MGI:2681256)
chr12	10995961	10998304	12p13.2	12p13.2	613962	TAS2R20, T2R56	Taste receptor, type 2, member 20	TAS2R20	259295	ENSG00000255837			Tas2r120 (MGI:2681256)
chr12	11021619	11022620	12p13	12p13.2	613961	TAS2R19, T2R19, T2R48	Taste receptor, type 2, member 19	TAS2R19	259294	ENSG00000212124			Tas2r120 (MGI:2681256)
chr12	11030387	11031407	12p13.2	12p13.2	612669	TAS2R31, TAS2R44, T2R53	Taste receptor, type 2, member 31	TAS2R31	259290	ENSG00000256436			Tas2r120,Tas2r136 (MGI:2681256,MGI:2681304)
chr12	11061365	11062294	12p13.2	12p13.2	612774	TAS2R46, T2R46, T2R54	Taste receptor, type 2, member 46	TAS2R46	259292	ENSG00000226761			Tas2r120 (MGI:2681256)
chr12	11091287	11092313	12p13.2	12p13.2	612668	TAS2R43, T2R52	Taste receptor, type 2, member 43	TAS2R43	259289	ENSG00000255374			Tas2r120 (MGI:2681256)
chr12	11132958	11134644	12p13.2	12p13.2	613963	TAS2R30, T2R30, T2R47	Taste receptor, type 2, member 30	TAS2R30	259293	ENSG00000256188	previously assigned to chr.1		Tas2r120 (MGI:2681256)
chr12	11185993	11186937	12p13	12p13.2	613966	TAS2R42, T2R42, T2R55	Taste receptor, type 2, member 42	TAS2R42	353164	ENSG00000186136			Tas2r131 (MGI:2681280)
chr12	11265914	11269707	12p13.2	12p13.2	168840	PRB3	Proline-rich protein BstNI, subfamily-3 (parotid salivary glycoprotein)	PRB3	5544	ENSG00000197870	G1 allele		Prb1b,Prb1c,Prh1,Prp2 (MGI:1927478,MGI:1932491,MGI:3645847,MGI:97773)
chr12	11307077	11310436	12p13.2	12p13.2	180990	PRB4	Proline-rich protein BstNI, subfamily-4	PRB4	5545	ENSG00000230657	Po, CON1, CON2 alleles		Prb1b,Prb1c,Prh1,Prp2 (MGI:1927478,MGI:1932491,MGI:3645847,MGI:97773)
chr12	11351821	11355591	12p13.2	12p13.2	180989	PRB1	Proline-rich protein BstNI, subfamily-1	PRB1	5542	ENSG00000251655			Prb1b,Prb1c,Prh1,Prp2 (MGI:1927478,MGI:1932491,MGI:3645847,MGI:97773)
chr12	11391540	11395567	12p13.2	12p13.2	168810	PRB2	Proline-rich protein BstNI, subfamily-2 (parotid size variant)	PRB2	653247	ENSG00000121335	Ps allele		Prb1a,Prb1b,Prb1c,Prh1,Prp2 (MGI:1927478,MGI:1932491,MGI:2681872,MGI:3645847,MGI:97773)
chr12	11649674	11895377	12p13	12p13.2	600618	ETV6, TEL, THC5	ETS variant transcription factor 6	ETV6	2120	ENSG00000139083	fused to PDGFRB or AML1 in leukemia	Thrombocytopenia 5, 616216 (3), Autosomal dominant; Leukemia, acute myeloid, somatic, 601626 (3)	Etv6 (MGI:109336)
chr12	12049861	12099695	12p12	12p13.2	606126	BCL2L14, BCLG	BCL2-like 14	BCL2L14	79370	ENSG00000121380			Bcl2l14 (MGI:1914063)
chr12	12116025	12267044	12p13.3-p11.2	12p13.2	603507	LRP6, ADCAD2, STHAG7	Low density lipoprotein receptor-related protein 6	LRP6	4040	ENSG00000070018		{Coronary artery disease, autosomal dominant, 2}, 610947 (3), Autosomal dominant; Tooth agenesis, selective, 7, 616724 (3), Autosomal dominant	Lrp6 (MGI:1298218)
chr12	12357078	12471233	12p13.2	12p13.2	616598	BORCS5, LOH12CR1, MYRLYSIN	BLOC1-related complex, subunit 5	BORCS5	118426	ENSG00000165714			Borcs5 (MGI:1915024)
chr12	12473282	12562863	12p12	12p13.2	607175	DUSP16, MKP7, KIAA1700	Dual-specificity phosphatase 16	DUSP16	80824	ENSG00000111266			Dusp16 (MGI:1917936)
chr12	12611876	12645108	12p13	12p13.1	603476	CREBL2	Cyclic AMP response element-binding protein-like 2	CREBL2	1389	ENSG00000111269			Crebl2 (MGI:1889385)
chr12	12660890	12717246	12p13.2-p12.3	12p13.1	602927	GPR19	G protein-coupled receptor-19	GPR19	2842	ENSG00000183150			Gpr19 (MGI:892973)
chr12	12717368	12722369	12p13	12p13.1	600778	CDKN1B, KIP1, CDKN4, MEN4	Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	CDKN1B	1027	ENSG00000111276		Multiple endocrine neoplasia, type IV, 610755 (3), Autosomal dominant	Cdkn1b (MGI:104565)
chr12	12725917	12791466	12p13.2	12p13.1	612456	APOLD1, VERGE, BDVAS	Apolipoprotein L domain-containing 1	APOLD1	81575	ENSG00000178878	mutation identified in 1 BDVAS family	?Bleeding disorder, vascular-type, 620715 (3), Autosomal dominant	Apold1 (MGI:2685921)
chr12	12813346	12829981	12p13.1	12p13.1	615428	DDX47	DEAD-box helicase 47	DDX47	51202	ENSG00000213782			Ddx47 (MGI:1915005)
chr12	12891562	12917937	12p13.1	12p13.1	604138	GPRC5A, RAI3, RAIG1	G protein-coupled receptor, family C, group 5, member A	GPRC5A	9052	ENSG00000013588			Gprc5a (MGI:1891250)
chr12	12940575	12952170	12p13.3	12p13.1	607437	GPRC5D	G protein-coupled receptor, family C, group 5, member D	GPRC5D	55507	ENSG00000111291			Gprc5d (MGI:1935037)
chr12	12974870	13000265	Chr.12	12p13.1	605826	HEBP1, HBP	Heme-binding protein 1	HEBP1	50865	ENSG00000013583			Hebp1 (MGI:1333880)
chr12	13044381	13083449	12p13.1	12p13.1	617838	FAM234B, KIAA1467	Family with sequence similarity 234, member B	FAM234B	57613	ENSG00000084444			Fam234b (MGI:1921775)
chr12	13196726	13219941	12p12.3	12p13.1	602333	EMP1, TMP	Epithelial membrane protein-1	EMP1	2012	ENSG00000134531			Emp1 (MGI:107941)
chr12	13537337	13982134	12p12	12p13.1	138252	GRIN2B, NMDAR2B, MRD6, DEE27	Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	GRIN2B	2904	ENSG00000273079		Developmental and epileptic encephalopathy 27, 616139 (3), Autosomal dominant; Intellectual developmental disorder, autosomal dominant 6, with or without seizures, 613970 (3), Autosomal dominant	Grin2b (MGI:95821)
chr12	14254914	14255486	12p13.1	12p13.1	139180	GNAI2P1, GNAI2L, GNAI2A	Guanine nucleotide-binding protein (G protein), alpha-inhibiting, polypeptide 2 pseudogene 1	GNAI2P1	2772				
chr12	14365682	14502930	12p13.1	12p13.1	613644	ATF7IP, AM, MCAF, MCAF1	Activating transcription factor 7-interacting protein	ATF7IP	55729	ENSG00000171681			Atf7ip (MGI:1858965)
chr12	14503661	14567883	12p13.1	12p13.1	618486	PLBD1	Phospholipase B domain-containing protein 1	PLBD1	79887	ENSG00000121316			Plbd1 (MGI:1914107)
chr12	14612632	14696599	12p12	12p12.3	601330	GUCY2C, GUC2C, DIAR6, MECIL	Guanylate cyclase 2C (heat stable enterotoxin receptor)	GUCY2C	2984	ENSG00000070019		Diarrhea 6, 614616 (3), Autosomal dominant; Meconium ileus, 614665 (3), Autosomal recessive	Gucy2c (MGI:106903)
chr12	14770720	14771131	12p13.1	12p12.3	615069	H4-16, HIST4H4	H4 histone 16	H4C16	121504	ENSG00000197837			H4c16,H4c9 (MGI:2448432,MGI:2448443)
chr12	14784582	14803478	12p12.3	12p12.3	618083	WBP11, NPWBP, SIPP1, VCTERL	WW-binding protein 11	WBP11	51729	ENSG00000084463		Vertebral, cardiac, tracheoesophageal, renal, and limb defects, 619227 (3), Autosomal dominant	Wbp11 (MGI:1891823)
chr12	14825569	14843526	12p13-p12	12p12.3	110600	ART4, DO, DOK1	ADP-ribosyltransferase-4 (Dombrock blood group)	ART4	420	ENSG00000111339		[Blood group, Dombrock], 616060 (3)	Art4 (MGI:1202710)
chr12	14880864	14885854	12p13.1-p12.3	12p12.3	154870	MGP	Matrix Gla protein	MGP	4256	ENSG00000111341		Keutel syndrome, 245150 (3), Autosomal recessive	Mgp (MGI:96976)
chr12	14914039	14938537	12p12.3	12p12.3	610642	ERP27, C12orf46	Endoplasmic reticulum protein, 27kD	ERP27	121506	ENSG00000139055			Erp27 (MGI:1916437)
chr12	14942015	14961601	12p12.3	12p12.3	602843	ARHGDIB, GDID4, D4	Rho GDP dissociation inhibitor (GDI) beta	ARHGDIB	397	ENSG00000111348			Arhgdib (MGI:101940)
chr12	14973042	14981865	12p13	12p12.3	601190	PDE6H, RCD3, ACHM6	Phosphodiesterase 6H	PDE6H	5149	ENSG00000139053		Retinal cone dystrophy 3, 610024 (3), Autosomal recessive, Autosomal dominant; Achromatopsia 6, 610024 (3), Autosomal recessive, Autosomal dominant	Pde6h (MGI:1925850)
chr12	15107783	15221417	12p12	12p12.3	612664	RERG	Ras-like and estrogen-regulated growth inhibitor	RERG	85004	ENSG00000134533			Rerg (MGI:2665139)
chr12	15322508	15598331	12p13-p12	12p12.3	600579	PTPRO, GLEPP1, NPHS6	Protein tyrosine phosphatase, receptor type, O	PTPRO	5800	ENSG00000151490		Nephrotic syndrome, type 6, 614196 (3), Autosomal recessive	Ptpro (MGI:1097152)
chr12	15620134	15789388	12p12.3	12p12.3	600206	EPS8, DFNB102	Epidermal growth factor receptor pathway substrate-8	EPS8	2059	ENSG00000151491	mutation identified in 1 DFNB102 family	?Deafness, autosomal recessive 102, 615974 (3), Autosomal recessive	Eps8 (MGI:104684)
chr12	15882387	15903478	12p12.3	12p12.3	605986	STRAP, UNRIP, MAWD	Serine/threonine kinase receptor-associated protein	STRAP	11171	ENSG00000023734	previously assigned to 12q		Strap (MGI:1329037)
chr12	15911332	16037381	12p12.3	12p12.3	619668	DERA, DEOC	Deoxyribose-phosphate aldolase	DERA	51071	ENSG00000023697			Dera (MGI:1913762)
chr12	16188485	16277685	12p12.3	12p12.3	620324	SLC15A5	Solute carrier family 15, member 5	SLC15A5	729025	ENSG00000188991			Slc15a5 (MGI:3607714)
chr12	16548372	16610174	12p13	12p12.3	180386	LMO3, RBTNL2, RHOM3	LIM domain only 3 (rhombotin-like 2)	LMO3	55885	ENSG00000048540	expressed mainly in brain		Lmo3 (MGI:102810)
chr12	16347115	16593331	Chr.12	12p12.3	138330	MGST1, GST12	Microsomal glutathione S-transferase 1	MGST1	4257	ENSG00000008394	pseudogene at 12q13-q14		Mgst1 (MGI:1913850)
chr12	16988747	16990628	12p12	12p12.3	601435	SKP1P2, SKP1B	S-phase kinase-associated protein 1 pseudogene 2 (p19B)	SKP1P2	728622				
chr12	18242961	18726817	12p12	12p12.3	609001	PIK3C2G	Phosphatidylinositol 3-kinase, class 2, gamma	PIK3C2G	5288	ENSG00000139144			Pik3c2g (MGI:1203730)
chr12	18645609	18738012	12p12.3	12p12.3	608075	PLCZ1, SPGF17	Phospholipase C, zeta-1	PLCZ1	89869	ENSG00000139151		Spermatogenic failure 17, 617214 (3), Autosomal recessive	Plcz1 (MGI:2150308)
chr12	18738119	18739188	12p12	12p12.3	608722	CAPZA3, CAPPA3	Capping protein, actin, alpha-3	CAPZA3	93661	ENSG00000177938			Capza3 (MGI:106221)
chr12	19129733	19376400	12p12	12p12.3	607770	PEPP2, KIAA1686	Phosphatidylinositol 3-phosphate-binding PH domain protein 2	PLEKHA5	54477	ENSG00000052126			Plekha5 (MGI:1923802)
chr12	19404072	19522227	12p12.3	12p12.3	617934	AEBP2	AE-binding protein 2	AEBP2	121536	ENSG00000139154			Aebp2 (MGI:1338038)
chr12	19800001	26300000	12p12.2-p12.1		608742	HYT4	Hypertension, essential, susceptibility to, 4		444980			{Hypertension, essential, susceptibility to, 4}, 145500 (2), Multifactorial	
chr12	19800001	21100000	12p12.2		619875	SLC01B7, SLC21A21, OATP1B7	Solute carrier organic anion transporter family, member 1B7	SLCO1B7	338821				
chr12	20368537	20688583	12p12.2	12p12.2	123805	PDE3A, HTNB	Phosphodiesterase 3A, cGMP-inhibited	PDE3A	5139	ENSG00000172572		Hypertension and brachydactyly syndrome, 112410 (3), Autosomal dominant	Pde3a (MGI:1860764)
chr12	20695332	20753386	12p12	12p12.2	613389	SLCO1C1, OATPF, OATP14, SLC21A14	Solute carrier organic anion transporter family, member 1C1	SLCO1C1	53919	ENSG00000139155			Slco1c1 (MGI:1889679)
chr12	20810705	20916911	12p12.2	12p12.2	605495	SLCO1B3, OATP8, OATP1B3, SLC21A8, HBLRR	Solute carrier organic anion transporter family, member 1B3	SLCO1B3	28234	ENSG00000111700	HBLRR digenic with SLCO1B1	Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive	Slco1b2 (MGI:1351899)
chr12	21131194	21239796	12p12	12p12.1	604843	SLCO1B1, LST1, OATP2, OATPC, OATP1B1, HBLRR	Solute carrier organic anion transporter family, member 1B1	SLCO1B1	10599	ENSG00000134538	HBLRR digenic with SLCO1B3	Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive	Slco1b2 (MGI:1351899)
chr12	21264600	21419634	12p12	12p12.1	602883	SLC21A3, OATP	Solute carrier family 21 (organic anion transporter), member 3	SLCO1A2	6579	ENSG00000084453			Slco1a1,Slco1a4,Slco1a5,Slco1a6,Slco1a7,Slco1a8 (MGI:1351865,MGI:1351891,MGI:1351896,MGI:1351906,MGI:3643685,MGI:3647159)
chr12	21354959	21379980	12p12.3-p12.1	12p12.1	147940	IAPP	Islet amyloid polypeptide (diabetes-associated peptide; amylin)	IAPP	3375	ENSG00000121351			Iapp (MGI:96382)
chr12	21437655	21471250	12p12.1	12p12.1	617220	PYROXD1, MFM8	Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1	PYROXD1	79912	ENSG00000121350		Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive	Pyroxd1 (MGI:2676395)
chr12	21468910	21501635	12p12-p11	12p12.1	600537	RECQL, RECQL1, RECON	RecQ helicase-like (DNA helicase, RecQ-like 1)	RECQL	5965	ENSG00000004700		RECON progeroid syndrome, 620370 (3), Autosomal recessive	Recql (MGI:103021)
chr12	21501789	21518408	12p12.1	12p12.1	615078	GOLT1B, GOT1B, GCT2	Golgi transport 1B	GOLT1B	51026	ENSG00000111711			Golt1b (MGI:1914214)
chr12	21526296	21532947	12p12	12p12.1	619246	SPX, C12orf39	Spexin hormone	SPX	80763	ENSG00000134548			Spx (MGI:2442262)
chr12	21532577	21604847	12p12.2	12p12.1	138571	GYS2	Glycogen synthase-2, liver	GYS2	2998	ENSG00000111713		Glycogen storage disease 0, liver, 240600 (3), Autosomal recessive	Gys2 (MGI:2385254)
chr12	21635342	21657842	12p12.2-p12.1	12p12.1	150100	LDHB, LDHBD	Lactate dehydrogenase B	LDHB	3945	ENSG00000111716		[Lactate dehydrogenase-B deficiency], 614128 (3)	Ldhb (MGI:96763)
chr12	21764955	21774706	12p11.23	12p12.1	600935	KCNJ8	Potassium inwardly-rectifying channel, subfamily J, member 8	KCNJ8	3764	ENSG00000121361			Kcnj8 (MGI:1100508)
chr12	21797389	21941426	12p12.1	12p12.1	601439	ABCC9, SUR2, CMD1O, ATFB12, CANTU, IDMYS	ATP-binding cassette, subfamily C, member 9 (sulfonylurea receptor 2)	ABCC9	10060	ENSG00000069431	mutation identified in 1 ATFB12 patient	Cardiomyopathy, dilated, 1O, 608569 (3), Autosomal dominant; Hypertrichotic osteochondrodysplasia (Cantu syndrome), 239850 (3), Autosomal dominant; ?Atrial fibrillation, familial, 12, 614050 (3), Autosomal dominant; Intellectual disability and myopathy syndrome, 619719 (3), Autosomal recessive	Abcc9 (MGI:1352630)
chr12	22046218	22065668	12p12.1	12p12.1	603316	CMAS	Cytidine monophosphate N-acetylneuraminic acid synthetase	CMAS	55907	ENSG00000111726			Cmas (MGI:1337124)
chr12	22193391	22334707	12p12.1-p11.2	12p12.1	601123	SIAT8	Sialyltransferase-8 (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase)	ST8SIA1	6489	ENSG00000111728			St8sia1 (MGI:106011)
chr12	22448583	22544542	12p12.1	12p12.1	618044	C2CD5, CDP138, KIAA0528	C2 calcium-dependent domain-containing protein 5	C2CD5	9847	ENSG00000111731			C2cd5 (MGI:1921991)
chr12	22625171	22690665	12p12.1-p11.2	12p12.1	609858	ETNK1, EKI1	Ethanolamine kinase 1	ETNK1	55500	ENSG00000139163			Etnk1 (MGI:1922570)
chr12	23529504	24562650	12p12.1	12p12.1	604975	SOX5, LAMSHF	SRY-box 5	SOX5	6660	ENSG00000134532	some LAMSHF patients have 12p12 deletions	Lamb-Shaffer syndrome, 616803 (3), Autosomal dominant	Sox5 (MGI:98367)
chr12	24810024	24949340	12p12	12p12.1	113520	BCAT1, BCT1	Branched chain aminotransferase-1, cytosolic	BCAT1	586	ENSG00000060982			Bcat1 (MGI:104861)
chr12	24917702	24918384	12p12.1-p11.2	12p12.1	609860	DADR	DAD1-related gene	DAD1P1	56286				
chr12	24997575	25108335	12p12.1	12p12.1	602003	LRMP, JAW1	Lymphoid-restricted membrane protein	IRAG2	4033	ENSG00000118308			Irag2 (MGI:108424)
chr12	25107047	25195160	12p12.1	12p12.1	616906	CASC1, LAS1, PPP1R54	Cancer susceptibility candidate 1	DNAI7	55259	ENSG00000118307			Dnai7 (MGI:2444480)
chr12	25205246	25250929	12p12.1	12p12.1	190070	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	KRAS protooncogene, GTPase	KRAS	3845	ENSG00000133703	pseudogene KRAS1P on 6p12-p11	Gastric cancer, somatic, 613659 (3); Oculoectodermal syndrome, somatic, 600268 (3); Breast cancer, somatic, 114480 (3); Noonan syndrome 3, 609942 (3), Autosomal dominant; RAS-associated autoimmune leukoproliferative disorder, 614470 (3), Autosomal dominant; Arteriovenous malformation of the brain, somatic, 108010 (3); Lung cancer, somatic, 211980 (3); Pancreatic carcinoma, somatic, 260350 (3); Leukemia, acute myeloid, somatic, 601626 (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3); Cardiofaciocutaneous syndrome 2, 615278 (3), Autosomal dominant; Bladder cancer, somatic, 109800 (3)	Kras (MGI:96680)
chr12	25476082	25648578	12p12.1	12p12.1	617254	LMNTD1, IFLTD1, LMNARS1, PAS1C1	Lamin tail domain-containing protein 1	LMNTD1	160492	ENSG00000152936			Lmntd1 (MGI:1921321)
chr12	25958232	26079889	12p12.1	12p12.1	608231	RASSF8, C12orf2	Ras association domain family, member 8	RASSF8	11228	ENSG00000123094			Rassf8 (MGI:1918573)
chr12	26120030	26125037	12p12.1-p11.23	12p12.1	606200	BHLHE41, BHLHB3, DEC2, SHARP1, FNSS1	Basic helix-loop-helix domain-containing protein, member E41	BHLHE41	79365	ENSG00000123095		[Short sleep, familial natural, 1], 612975 (3), Autosomal dominant	Bhlhe41 (MGI:1930704)
chr12	26121991	26234777	12p11.2	12p12.1	601599	SSPN, KRAG	Sarcospan (Kirsten-ras associated gene)	SSPN	8082	ENSG00000123096			Sspn (MGI:1353511)
chr12	26300001	51100000	12p11.23-q13.12		602096	AD5	Alzheimer disease, familial, type 5		8081			Alzheimer disease-5, 602096 (2), Autosomal dominant	
chr12	26300001	54500000	12p11.2-q13.1		615022	ARCI7	Ichthyosis, congenital, autosomal recessive 7		101202686		between D12S345 and D12S390	Ichthyosis, congenital, autosomal recessive 7, 615022 (2), Autosomal recessive	
chr12	26300001	67300000	12p11.2-q14		606257	STQTL3	Stature quantitative trait locus 3		282549		max lod at D12S398 and D12S10990	{Stature QTL 3}, 606257 (2)	
chr12	26300001	57700000	12p11-q13		615390	VUR7	Vesicoureteral reflux 7		102095631		max lod at D12S1048	Vesicoureteral reflux 7, 615390 (2)	
chr12	26335352	26833194	12p11	12p11.23	600144	ITPR2, ANHD	Inositol 1,4,5-triphosphate receptor, type 2	ITPR2	3709	ENSG00000123104	mutation has been identified in 1 ANHD family	?Anhidrosis, isolated, with normal sweat glands, 106190 (3), Autosomal recessive	Itpr2 (MGI:99418)
chr12	26905181	26938332	12p11.23	12p11.23	615079	INTS13, ASUN, MAT89BB, GCT1	Integrator complex subunit 13	INTS13	55726	ENSG00000064102			Ints13 (MGI:1918427)
chr12	26938470	26966648	12p11.23	12p11.23	608858	FGFR1OP2	Fibroblase growth factor receptor 1 oncogene partner 2	FGFR1OP2	26127	ENSG00000111790			Fgfr1op2 (MGI:1914779)
chr12	26971579	27014384	12q11-q12	12p11.23	605181	TM7SF3	Transmembrane 7 superfamily, member 3	TM7SF3	51768	ENSG00000064115			Tm7sf3 (MGI:1914873)
chr12	27022558	27038951	12p11.23	12p11.23	603800	MED21, SURB7, SRB7	Mediator complex subunit 21	MED21	9412	ENSG00000152944			Med21 (MGI:1347064)
chr12	27244286	27325959	12p12.3	12p11.23	615836	STK38L, NDR2, KIAA0965	Serine/threonine protein kinase 38-like protein	STK38L	23012	ENSG00000211455			Stk38l (MGI:1922250)
chr12	27332836	27425286	12p11.23	12p11.23	614517	ARNTL2, BMAL2, CLIF	Aryl hydrocarbon receptor nuclear translocator-like protein 2	BMAL2	56938	ENSG00000029153			Bmal2 (MGI:2684845)
chr12	27524206	27695564	12p11.2	12p11.23-p11.22	603141	PPFIBP1, NEDSMBA	PPFIA-binding protein 1	PPFIBP1	8496	ENSG00000110841		Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, 620024 (3), Autosomal recessive	Ppfibp1 (MGI:1914783)
chr12	27696447	27697596	12p11.22	12p11.22	610848	REP15	Rab15 effector protein	REP15	387849	ENSG00000174236			Rep15 (MGI:1913782)
chr12	27710832	27756295	12q21.1-q21.3	12p11.22	611995	MRPS35, MRPS28	Mitochondrial ribosomal protein S35	MRPS35	60488	ENSG00000061794	3 pseudogenes		Mrps35 (MGI:2385255)
chr12	27780233	27803040	12p11.22	12p11.22	618919	KLHL42, KLHDC5, CTB9	Kelch-like family, member 42	KLHL42	57542	ENSG00000087448			Klhl42 (MGI:2444786)
chr12	27958084	27972733	12p12.1-p11.2	12p11.22	168470	PTHLH, BDE2	Parathyroid hormone-like hormone	PTHLH	5744	ENSG00000087494		Brachydactyly, type E2, 613382 (3), Autosomal dominant	Pthlh (MGI:97800)
chr12	28190456	28550166	12p11.22	12p11.22	617366	CCDC91	Coiled-coil domain-containing protein 91	CCDC91	55297	ENSG00000123106			Ccdc91 (MGI:1914265)
chr12	29149278	29335616	12p11.23	12p11.22	616156	FAR2, MLSTD1	Fatty acyl CoA reductase 2	FAR2	55711	ENSG00000064763			Far2 (MGI:2687035)
chr12	29337352	29381172	12p11.22	12p11.22	612236	ERGIC2, CDA14, PTX1	Endoplasmic reticulum-golgi intermediate compartment protein 2	ERGIC2	51290	ENSG00000087502			Ergic2 (MGI:1914706)
chr12	29402168	29497686	12p11.22	12p11.22	621069	OVCH1	Ovochymase 1	OVCH1	341350	ENSG00000187950			
chr12	29500813	29784759	12p11.22	12p11.22	615855	TMTC1	Transmembrane and tetratricopeptide repeat domains-containing protein 1	TMTC1	83857	ENSG00000133687			Tmtc1 (MGI:3039590)
chr12	30628988	30695869	12p11.21	12p11.21	605600	IPO8, RANBP8, VISS	Importin 8	IPO8	10526	ENSG00000133704		VISS syndrome, 619472 (3), Autosomal recessive	Ipo8 (MGI:2444611)
chr12	30709553	30754951	12p11.21	12p11.21	610375	CAPRIN2, C1QDC1, EEG1, KIAA1873	Caprin family, member 2	CAPRIN2	65981	ENSG00000110888			Caprin2 (MGI:2448541)
chr12	30795681	30802711	12p11.21	12p11.21	620799	LINC00941	Long intergenic noncoding RNA 941	LINC00941	100287314	ENSG00000285517			
chr12	30926748	31016502	12p11.21	12p11.21	621013	TSPAN11	Tetraspanin 11	TSPAN11	441631	ENSG00000110900			Tspan11 (MGI:1915748)
chr12	31073860	31104799	12p11	12p11.21	601150	DDX11, CHLR1, KRG2	DEAD/H-box helicase 11	DDX11	1663	ENSG00000013573		Warsaw breakage syndrome, 613398 (3), Autosomal recessive	Ddx11 (MGI:2443590)
chr12	31280584	31326150	12p11	12p11.21	615027	SINHCAF, FAM60A	SIN3-HDAC complex associated factor	SINHCAF	58516	ENSG00000139146			Sinhcaf (MGI:1929091)
chr12	31382226	31591136	12p11.21	12p11.21	617279	DENND5B	DENN domain-containing protein 5B	DENND5B	160518	ENSG00000170456			Dennd5b (MGI:2444273)
chr12	31647160	31673114	12p11.21	12p11.21	615256	ETFBKMT, METTL20, C12orf72	Electron transfer flavoprotein beta-subunit lysine methyltransferase	ETFBKMT	254013	ENSG00000139160			Etfbkmt (MGI:2443575)
chr12	31671137	31729174	12p11.21	12p11.21	620564	AMN1	Antongonist of mitotic exit network 1	AMN1	196394	ENSG00000151743			Amn1 (MGI:2442933)
chr12	31791185	31792298	12p11.21	12p11.21	616134	H3-5, H3F3C	H3.5 histone	H3-5	440093	ENSG00000188375			H3f5 (MGI:3651714)
chr12	31959415	31993107	12p11.21	12p11.21	615621	RESF1, GET, KIAA1551, C12orf35	Retroelement silencing factor 1	RESF1	55196	ENSG00000174718			Resf1 (MGI:1914496)
chr12	32106847	32383633	12p11.2-p11.1	12p11.21	602204	BICD1	BICD cargo adaptor 1	BICD1	636	ENSG00000151746			Bicd1 (MGI:1101760)
chr12	32399558	32646050	12p11.2	12p11.21	611104	FGD4, FRABIN, CMT4H	FYVE, RhoGEF, and PH domain-containing protein 4	FGD4	121512	ENSG00000139132		Charcot-Marie-Tooth disease, type 4H, 609311 (3), Autosomal recessive	Fgd4 (MGI:2183747)
chr12	32679301	32745650	12p11.21	12p11.21	603850	DNM1L, DRP1, DVLP, DYMPLE, EMPF1, OPA5	Dynamin 1-like	DNM1L	10059	ENSG00000087470		Optic atrophy 5, 610708 (3), Autosomal dominant; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3), Autosomal recessive, Autosomal dominant	Dnm1l (MGI:1921256)
chr12	32746544	32755897	12p11.21	12p11.21	610957	YARS2, TYRRS, MLASA2	Tyrosyl-tRNA synthetase 2	YARS2	51067	ENSG00000139131		Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3), Autosomal recessive	Yars2 (MGI:1917370)
chr12	32790755	32896777	12p11	12p11.21	602861	PKP2, ARVD9	Plakophilin-2	PKP2	5318	ENSG00000057294	pseudogene on 12p13	Arrhythmogenic right ventricular dysplasia 9, 609040 (3), Autosomal dominant	Pkp2 (MGI:1914701)
chr12	34022377	34028302	12p11.1	12p11.1	618355	ALG10, ALG10A	ALG10 alpha-1,2-glucosyltransferase	ALG10	84920	ENSG00000139133			Alg10b (MGI:2146159)
chr12	35500001	133275309	12q		179010	IHPS1, IHPS	Pyloric stenosis, infantile hypertrophic 1					Pyloric stenosis, infantile hypertrophic 1, 179010 (2), Multifactorial, Autosomal dominant	
chr12	37800001	92200000	12q12-q21		102300	RLS1	Restless legs syndrome, susceptibility to, 1		192142		between D12S1044 and D12S78	{Restless legs syndrome 1}, 102300 (2), Autosomal dominant	
chr12	38316687	38329721	12q12	12q12	603313	ALG10B, KCR1, ALG10	ALG10 alpha-1,2-glucosyltransferase B	ALG10B	144245	ENSG00000175548		{Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3), Autosomal dominant	Alg10b (MGI:2146159)
chr12	39293228	39443120	12q12	12q12	608283	KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B	Kinesin family member 21A	KIF21A	55605	ENSG00000139116		Fibrosis of extraocular muscles, congenital, 3B, 135700 (3), Autosomal dominant; Fibrosis of extraocular muscles, congenital, 1, 135700 (3), Autosomal dominant	Kif21a (MGI:109188)
chr12	39531025	39619803	12q11-q12	12q12	601081	ABCD2, ALDR, ALDL1	ATP-binding cassette, subfamily D, member 2	ABCD2	225	ENSG00000173208			Abcd2 (MGI:1349467)
chr12	39626183	39908300	12q12	12q12	620495	C12orf40, HEIP1	Chromosome 12 open reading frame 40	REDIC1	283461	ENSG00000180116			Redic1 (MGI:3613655)
chr12	39755025	40106081	12q12	12q12	611036	SLC2A13, HMIT	Solute carrier family 2 (facilitated glucose transporter), member 13	SLC2A13	114134	ENSG00000151229			Slc2a13 (MGI:2146030)
chr12	40224997	40369285	12q12	12q12	609007	LRRK2, PARK8	Leucine-rich repeat kinase 2 (dardarin)	LRRK2	120892	ENSG00000188906		{Parkinson disease 8}, 607060 (3), Autosomal dominant	Lrrk2 (MGI:1913975)
chr12	40393394	40570757	12q12	12q12	612170	MUC19	Mucin 19, oligomeric	MUC19	283463	ENSG00000205592			Muc19 (MGI:2676278)
chr12	40692439	41072415	12q11-q12	12q12	600016	CNTN1, CMYO12	Contactin 1	CNTN1	1272	ENSG00000018236		Congenital myopathy 12, 612540 (3), Autosomal recessive	Cntn1 (MGI:105980)
chr12	41188320	41574745	12q12	12q12	609730	PDZRN4	PDZ domain-containing ring finger protein 4	PDZRN4	29951	ENSG00000165966			Pdzrn4 (MGI:3056996)
chr12	42081845	42144874	12q12	12q12	613321	GXYLT1, GLT8D3	Glucoside xylosyltransferase 1	GXYLT1	283464	ENSG00000151233			Gxylt1 (MGI:2684933)
chr12	42157104	42238248	12q12	12q12	607534	YAF2	YY1-associated factor 2	YAF2	10138	ENSG00000015153			Yaf2 (MGI:1914307)
chr12	42312086	42326094	12q12	12q12	610750	ZCRB1, MADP1	Zinc finger CCHC domain- and RNA-binding motif-containing protein 1	ZCRB1	85437	ENSG00000139168	possible pseudogenes on chr16, X, and 6		Zcrb1 (MGI:1914447)
chr12	42326167	42448621	12q12	12q12	608150	PPHLN1	Periphilin 1	PPHLN1	51535	ENSG00000134283			Pphln1 (MGI:1917029)
chr12	42456757	42589746	12q12	12q12	608500	PRICKLE1, RILP, EPM1B	Prickle-like 1	PRICKLE1	144165	ENSG00000139174		Epilepsy, progressive myoclonic 1B, 612437 (3), Autosomal recessive	Prickle1 (MGI:1916034)
chr12	43352763	43552203	12q11	12q12	611681	ADAMTS20	ADAM metallopeptidase domain with thrombospondin type 1 motif, 20	ADAMTS20	80070	ENSG00000173157			Adamts20 (MGI:2660628)
chr12	43758951	43789541	12q12	12q12	606883	IRAK4, REN64, IPD1, IMD67	Interleukin 1 receptor-associated kinase 4	IRAK4	51135	ENSG00000198001		Immunodeficiency 67, 607676 (3), Autosomal recessive	Irak4 (MGI:2182474)
chr12	43793723	43806317	12q12	12q12	610932	TWF1, PTK9	Twinfilin actin-binding protein 1	TWF1	5756	ENSG00000151239			Twf1 (MGI:1100520)
chr12	44508275	44921848	12q13.11-q13.12	12q12	602320	NELL2	Nel-like 2	NELL2	4753	ENSG00000184613			Nell2 (MGI:1858510)
chr12	45014672	45051099	12q12	12q12	620706	DBX2	Developing brain homeobox 2	DBX2	440097	ENSG00000185610			Dbx2 (MGI:107445)
chr12	45216095	45440404	12q12	12q12	608663	ANO6, TMEM16F, SCTS, BDPLT7	Anoctamin 6	ANO6	196527	ENSG00000177119		Scott syndrome, 262890 (3), Autosomal recessive	Ano6 (MGI:2145890)
chr12	45729706	45908037	12q12	12q12	609539	ARID2, BAF200, KIAA1557, CSS6	AT-rich interaction domain-containing protein 2	ARID2	196528	ENSG00000189079		Coffin-Siris syndrome 6, 617808 (3), Autosomal dominant	Arid2 (MGI:1924294)
chr12	45919131	45992059	12q12-q13.11	12q12	603668	SCAF11, SFRS2IP, SIP1, CASP11, SRRP129	SR-related C-terminal domain-associated factor 11	SCAF11	9169	ENSG00000139218	previously assigned to 21q22.3		Scaf11 (MGI:1919443)
chr12	46000001	57700000	12q13		613061	BCC4	Basal cell carcinoma, susceptibility to, 4		100307121		associated with rs11170164	{Basal cell carcinoma, susceptibility to, 4}, 613061 (2)	
chr12	46000001	57700000	12q13		616182	CMTS	Chronic mountain sickness, susceptibility to		105180377			{Chronic mountain sickness, susceptibility to}, 616182 (2)	
chr12	46000001	67300000	12q13-q14		607841	DFNA48	Deafness, autosomal dominant 48					Deafness, autosomal dominant 48, 607841 (2), Autosomal dominant	
chr12	46000001	92200000	12q13-q21		600808	ENUR2	Enuresis, nocturnal, 2		2032			Enuresis, nocturnal, 2, 600808 (2), Autosomal dominant	
chr12	46000001	57700000	12q13		167960	HPV18I2	Human papillomavirus type 18 integration site-2		3261		on 8 near MYC in HeLa		
chr12	46000001	71100000	12q13.11-q15		614346	MRT25	Intellectual developmental disorder, autosomal recessive 25		100852403		between rs4760658 and rs1882033	Intellectual developmental disorder, autosomal recessive 25, 614346 (2), Autosomal recessive	
chr12	46000001	54500000	12q13.1		613488	MXLPO	Myxoid liposarcoma				fusion of DDIT3 and FUS	Myxoid liposarcoma, 613488 (4)	
chr12	46000001	57700000	12q13		184100	SPDT	Spondyloepiphyseal dysplasia tarda, autosomal dominant		103875461			Spondyloepiphyseal dysplasia tarda, autosomal dominant, 184100 (2), Autosomal dominant	
chr12	46183063	46269043	12q13.11	12q13.11	608490	SLC38A1	Solute carrier family 38 (amino acid transporter), member 1	SLC38A1	81539	ENSG00000111371			Slc38a1 (MGI:2145895)
chr12	46358188	46372773	12q13.11	12q13.11	605180	SLC38A2, ATA2, KIAA1382	Solute carrier family 38, member 2	SLC38A2	54407	ENSG00000134294			Slc38a2 (MGI:1915010)
chr12	46764761	46832431	12q13	12q13.11	608065	SLC38A4, NAT3, ATA3	Solute carrier family 38 (amino acid transporter), member 4	SLC38A4	55089	ENSG00000139209			Slc38a4 (MGI:1916604)
chr12	47075707	47079959	12q13.11	12q13.11	615690	AMIGO2, ALI1	Adhesion molecule with Ig-like domain 2	AMIGO2	347902	ENSG00000139211			Amigo2 (MGI:2145995)
chr12	47661249	47706030	12q13.11	12q13.11	611477	RPAP3	RNA polymerase II-associated protein 3	RPAP3	79657	ENSG00000005175			Rpap3 (MGI:1277218)
chr12	47709734	47725490	12q13.1	12q13.11	606720	ENDOU, PP11	Endonuclease polyU-specific	ENDOU	8909	ENSG00000111405			Endou (MGI:97746)
chr12	47753934	47782751	12q13	12q13.11	612187	SLC48A1, HRG	Solute carrier family 48, member 1	SLC48A1	55652	ENSG00000211584			Slc48a1 (MGI:1914989)
chr12	47734363	47758880	Chr.12	12q13.11	606057	EPAC	cAMP-regulated guanine nucleotide exchange factor I	RAPGEF3	10411	ENSG00000079337			Rapgef3 (MGI:2441741)
chr12	47782722	47821344	Chr.12	12q13.11	606542	HDAC7A, HDAC7	Histone deacetylase 7A	HDAC7	51564	ENSG00000061273			Hdac7 (MGI:1891835)
chr12	47841537	47904994	12q12-q14	12q13.11	601769	VDR	Vitamin D (1,25-dihydroxyvitamin D3) receptor	VDR	7421	ENSG00000111424		Rickets, vitamin D-resistant, type IIA, 277440 (3), Autosomal recessive	Vdr (MGI:103076)
chr12	47972967	48006212	12q13.11-q13.2	12q13.11	120140	COL2A1, STL1, ACG2, SEDC, SEMDSTWK, EDMMD, OSCDP, VPED, PLSDT, ANFH1, LCPD, SEDSTN, SMDALG	Collagen II, alpha-1 polypeptide	COL2A1	1280	ENSG00000139219	mutation identified in 1 VPED family	?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3), Autosomal dominant; Czech dysplasia, 609162 (3), Autosomal dominant; Achondrogenesis, type II or hypochondrogenesis, 200610 (3), Autosomal dominant; Spondyloperipheral dysplasia, 271700 (3), Autosomal dominant; SMED Strudwick type, 184250 (3), Autosomal dominant; ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3), Autosomal dominant; Spondylometaphyseal dysplasia, Algerian type, 184253 (3), Autosomal dominant; SED congenita, 183900 (3), Autosomal dominant; Kniest dysplasia, 156550 (3), Autosomal dominant; Stickler syndrome, type I, nonsyndromic ocular, 609508 (3), Autosomal dominant; Osteoarthritis with mild chondrodysplasia, 604864 (3), Autosomal dominant; Stickler syndrome, type I, 108300 (3), Autosomal dominant; Platyspondylic skeletal dysplasia, Torrance type, 151210 (3), Autosomal dominant; Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3), Autosomal dominant; Avascular necrosis of the femoral head, 608805 (3), Autosomal dominant; Legg-Calve-Perthes disease, 150600 (3), Autosomal dominant	Col2a1 (MGI:88452)
chr12	48042897	48106079	12q13.1	12q13.11	612157	SENP1	Sentrin-specific protease family, member 1	SENP1	29843	ENSG00000079387			Senp1 (MGI:2445054)
chr12	48105353	48146404	12q13.3	12q13.11	610681	PFKM, GSD7	Phosphofructokinase, muscle type	PFKM	5213	ENSG00000152556	incorrectly assigned to chr.1	Glycogen storage disease VII, 232800 (3), Autosomal recessive	Pfkm (MGI:97548)
chr12	48147789	48157515	12q13	12q13.11	615053	ASB8	Ankyrin repeat- and SOCS box-containing protein 8	ASB8	140461	ENSG00000177981			Asb8 (MGI:1925791)
chr12	48328980	48330279	12q13.11	12q13.11	618565	H1-7, H1FNT, HANP1, H1T2	H1.7 linker histone	H1-7	341567	ENSG00000187166			H1f7 (MGI:1917319)
chr12	48334587	48351246	12q13.11	12q13.11	613906	ZNF641	Zinc finger protein 641	ZNF641	121274	ENSG00000167528			Zfp641 (MGI:2442788)
chr12	48472559	48473622	12q13.11	12q13.11	606878	ANP32D, PP32R2	Acidic leucine-rich nuclear phosphoprotein 32 family, member D	ANP32D	23519	ENSG00000139223			Anp32-ps (MGI:3525200)
chr12	48567684	48571845	12q13	12q13.11	149750	LALBA	Lactalbumin, alpha	LALBA	3906	ENSG00000167531			Lalba (MGI:96742)
chr12	48653211	48682238	12q13.11	12q13.11	615488	KANSL2, NSL2, C12orf41	KAT8 regulatory NSL complex, subunit 2	KANSL2	54934	ENSG00000139620			Kansl2 (MGI:1916862)
chr12	48654382	48654518	12q13.11	12q13.11	615487	SNORA2C, SNORA34, ACA34, MIR1291	Small nucleolar RNA, H/ACA box, 34	SNORA2C	677815	ENSG00000221491	MIR1291 in intron of SNORA34		
chr12	48688458	48716707	12q11-q13.3	12q13.11-q13.12	143055	CCNT1, CCNT	Cyclin T1	CCNT1	904	ENSG00000129315			Ccnt1 (MGI:1328363)
chr12	48766194	48789974	12q12-q13	12q13.12	600294	ADCY6, LCCS8	Adenylate cyclase-6	ADCY6	112	ENSG00000174233		Lethal congenital contracture syndrome 8, 616287 (3), Autosomal recessive	Adcy6 (MGI:87917)
chr12	48814480	48828941	12q13	12q13.12	601958	CACNB3	Calcium channel, voltage-dependent, beta 3 subunit	CACNB3	784	ENSG00000167535			Cacnb3 (MGI:103307)
chr12	48829756	48852163	12q13.12	12q13.12	612172	DDX23, PRP28	DEAD-box helicase 23	DDX23	9416	ENSG00000174243			Ddx23 (MGI:1921601)
chr12	48857145	48865870	12q13.12	12q13.12	609038	RND1, RHO6	Rho family GTPase 1	RND1	27289	ENSG00000172602			Rnd1 (MGI:2444878)
chr12	48904133	48921576	12q13.12	12q13.12	611088	CCDC65, CILD27	Coiled-coil domain-containing protein 65	CCDC65	85478	ENSG00000139537		Ciliary dyskinesia, primary, 27, 615504 (3), Autosomal recessive	Ccdc65 (MGI:2146001)
chr12	48921963	48939034	12q13	12q13.12	610571	FKBP11, FKBP19	FK506-binding protein 11	FKBP11	51303	ENSG00000134285			Fkbp11 (MGI:1913370)
chr12	48935723	48957487	12q13	12q13.12	103190	ARF3	ADP-ribosylation factor-3	ARF3	377	ENSG00000134287			Arf3 (MGI:99432)
chr12	48965340	48971735	12q13	12q13.12	601906	WNT10B, SHFM6, STHAG8	Wingless-type MMTV integration site family, member 10B	WNT10B	7480	ENSG00000169884		Tooth agenesis, selective, 8, 617073 (3), Autosomal dominant; Split-hand/foot malformation 6, 225300 (3), Autosomal recessive	Wnt10b (MGI:108061)
chr12	48978322	48982620	12q12-q13	12q13.12	164820	WNT1, INT1, OI15, BMND16	Wingless-type MMTV integration site family, member 1 (oncogene INT1)	WNT1	7471	ENSG00000125084		{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3), Autosomal dominant; Osteogenesis imperfecta, type XV, 615220 (3), Autosomal recessive	Wnt1 (MGI:98953)
chr12	48995149	48999375	12q13.1	12q13.12	610588	DDN, KIAA0749	Dendrin	DDN	23109	ENSG00000181418			Ddn (MGI:108101)
chr12	49002274	49018776	12q13.1	12q13.12	602742	PRKAG1	Protein kinase, AMP-activated, noncatalytic, gamma-1	PRKAG1	5571	ENSG00000181929			Prkag1 (MGI:108411)
chr12	49018978	49060794	12q13.12	12q13.12	602113	KMT2D, MLL2, ALR, KABUK1, BCAHH	Lysine methyltransferase 2D	KMT2D	8085	ENSG00000167548		Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, 620186 (3), Autosomal dominant; Kabuki syndrome 1, 147920 (3), Autosomal dominant	Kmt2d (MGI:2682319)
chr12	49064676	49069979	12q13.12	12q13.12	618956	RHEBL1, RHEB2	RHEB-like protein 1	RHEBL1	121268	ENSG00000167550			Rhebl1 (MGI:1916409)
chr12	49086656	49094801	12q13.1	12q13.12	605423	DHH, SRXY7, GDMN	Desert hedgehog signaling molecule	DHH	50846	ENSG00000139549		46XY gonadal dysgenesis with minifascicular neuropathy, 607080 (3), Autosomal recessive; 46XY sex reversal 7, 233420 (3), Autosomal recessive	Dhh (MGI:94891)
chr12	49097139	49110847	12q13.12	12q13.12	610007	LMBR1L, LIMR, KIAA1174	Limb region 1 homolog-like	LMBR1L	55716	ENSG00000139636			Lmbr1l (MGI:1289247)
chr12	49127782	49131395	12q13.12	12q13.12	602530	TUBA1B	Tubulin, alpha-1B	TUBA1B	10376	ENSG00000123416			Tuba1b (MGI:107804)
chr12	49184795	49189080	12q12-q14	12q13.12	602529	TUBA1A, TUBA3, LIS3	Tubulin, alpha-1A	TUBA1A	7846	ENSG00000167552		Lissencephaly 3, 611603 (3), Autosomal dominant	Tuba1a (MGI:98869)
chr12	49295147	49298686	12q12-q13	12q13.12	170710	PRPH	Peripherin	PRPH	5630	ENSG00000135406		{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant	Prph (MGI:97774)
chr12	49323255	49331731	12q13.12	12q13.12	603872	TROAP, TASTIN	Trophinin-associated protein	TROAP	10024	ENSG00000135451			Troap (MGI:1925983)
chr12	49332409	49337188	12q13	12q13.12	615229	C1QL4, CTRP11	Complement component 1, q subcomponent-like 4	C1QL4	338761	ENSG00000186897			C1ql4 (MGI:3579909)
chr12	49366852	49527425	12q13.2	12q13.12	611667	SPATS2, SPATA10, P59SCR, SCR59	Spermatogenesis-associated serine-rich protein 2	SPATS2	65244	ENSG00000123352			Spats2 (MGI:1919822)
chr12	49539030	49558337	12q13	12q13.12	604527	KCNH3, BEC1	Potassium voltage-gated channel, subfamily H (eag-related), member 3	KCNH3	23416	ENSG00000135519			Kcnh3 (MGI:1341723)
chr12	49558299	49568142	12q13.12	12q13.12	609504	MCRS1, MSP58, MCRS2	Microspherule protein 1 (microspherule protein 2, included)	MCRS1	10445	ENSG00000187778			Mcrs1 (MGI:1858420)
chr12	49622646	49644665	12q13.12	12q13.12	621019	PRPF40B	Pre-mRNA-processing factor 40 homolog B	PRPF40B	25766	ENSG00000110844			Prpf40b (MGI:1925583)
chr12	49636499	49707405	12q13	12q13.12	616288	FMNL3, FRL2	Formin-like 3	FMNL3	91010	ENSG00000161791			Fmnl3 (MGI:109569)
chr12	49741557	49764934	12q13.12	12q13.12	600748	TMBIM6, TEGT	Transmembrane BAX inhibitor motif-containing protein 6	TMBIM6	7009	ENSG00000139644			Tmbim6 (MGI:99682)
chr12	49791152	49828413	12q13.12	12q13.12	615104	NCKAP5L, KIAA1602	NCK-associated protein 5-like	NCKAP5L	57701	ENSG00000167566			Nckap5l (MGI:3609653)
chr12	49836043	49843106	12q13.12	12q13.12	619601	BCDIN3D	BCDIN3 domain-containing RNA methyltransferase	BCDIN3D	144233	ENSG00000186666			Bcdin3d (MGI:1922534)
chr12	49866896	49903900	12q13	12q13.12	604306	FAIM2, LFG, NMP35	FAS apoptotic inhibitory molecule 2	FAIM2	23017	ENSG00000135472			Faim2 (MGI:1919643)
chr12	49950737	49958878	12q13	12q13.12	107777	AQP2, NDI2	Aquaporin-2 (collecting duct)	AQP2	359	ENSG00000167580		Diabetes insipidus, nephrogenic, 2, 125800 (3), Autosomal recessive, Autosomal dominant	Aqp2 (MGI:1096865)
chr12	49961872	49965682	12q13	12q13.12	600442	AQP5, PPKB	Aquaporin-5	AQP5	362	ENSG00000161798		Palmoplantar keratoderma, Bothnian type, 600231 (3), Autosomal dominant	Aqp5 (MGI:106215)
chr12	49972947	49977139	12q13	12q13.12	601383	AQP6, AQP2L	Aquaporin-6, kidney specific	AQP6	363	ENSG00000086159			Aqp6 (MGI:1341204)
chr12	49989162	50033440	12q13.12	12q13.12	604980	RACGAP1, RCGAP1, MGCRACGAP, CYK4, CDAN3B	RAC GTPase-activating protein 1	RACGAP1	29127	ENSG00000161800		Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive, 619789 (3), Autosomal recessive	Racgap1 (MGI:1349423)
chr12	50057596	50083622	12q12	12q13.12	602866	ACCN2	Cation channel, amiloride-sensitive, neuronal, 2	ASIC1	41	ENSG00000110881			Asic1 (MGI:1194915)
chr12	50085342	50100707	12q13-q14	12q13.12	601735	SMARCD1, BAF60A, CSS11	SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	SMARCD1	6602	ENSG00000066117		Coffin-Siris syndrome 11, 618779 (3), Autosomal dominant	Smarcd1 (MGI:1933623)
chr12	50104008	50111313	12q12-q13	12q13.12	138420	GPD1, HTGTI	Glycerol-3-phosphate dehydrogenase, soluble	GPD1	2819	ENSG00000167588		Hypertriglyceridemia, transient infantile, 614480 (3), Autosomal recessive	Gpd1 (MGI:95679)
chr12	50112236	50120453	12q13.12	12q13.12	614478	COX14, C12orf62, MC4DN10	Cytochrome c oxidase assembly protein COX14	COX14	84987	ENSG00000178449	mutation identified in 1 MC4DN10 family	?Mitochondrial complex IV deficiency, nuclear type 10, 619053 (3), Autosomal recessive	Cox14 (MGI:1913629)
chr12	50129289	50167369	12q13.12	12q13.12	615335	CERS5, LASS5, TRH4	Ceramide synthase 5	CERS5	91012	ENSG00000139624			Cers5 (MGI:1919199)
chr12	50175788	50283520	12q13	12q13.12	608364	LIMA1, EPLIN, SREBP3, LDLCQ8	LIM domain and actin-binding protein 1	LIMA1	51474	ENSG00000050405		[Low density lipoprotein cholesterol level QTL 8], 618079 (3)	Lima1 (MGI:1920992)
chr12	50400885	50480004	12q13.12	12q13.12	618657	LARP4	La ribonucleoprotein 4	LARP4	113251	ENSG00000161813			Larp4 (MGI:2443114)
chr12	50504985	50748657	12q13.12	12q13.12	611379	DIP2B, KIAA1463	Disco-interacting protein 2 homolog B	DIP2B	57609	ENSG00000066084		Intellectual developmental disorder, autosomal dominant, FRA12A type, 136630 (3), Autosomal dominant	Dip2b (MGI:2145977)
chr12	50763459	50821162	12q13	12q13.12	123803	ATF1, TREB36	Activating transcription factor 1	ATF1	466	ENSG00000123268	fused with EWS in soft tissue clear cell sarcoma, with FUS in angiomatoid fibrous histiocytoma		Atf1,Atf1-ps (MGI:1298366,MGI:3037720)
chr12	50925015	50932508	12q13.12	12q13.12	618338	TMT1A, METTL7A, AAMB	Thiol methyltransferase 1A	TMT1A	25840	ENSG00000185432			Tmt1a,Tmt1a2,Tmt1a3 (MGI:1916523,MGI:3026615,MGI:3710670)
chr12	50931110	50972592	12q13.12	12q13.12	620803	HIGD1C	HIG1 hypoxia-inducible domain family, member 1C	HIGD1C	613227	ENSG00000214511			Higd1c (MGI:2685767)
chr12	50952263	51028886	12q13	12q13.12	600523	SLC11A2, NRAMP2, DCT1, DMT1, AHMIO1	Solute carrier family 11 (proton-coupled divalent metal ion transporter) member 2	SLC11A2	4891	ENSG00000110911		Anemia, hypochromic microcytic, with iron overload 1, 206100 (3), Autosomal recessive	Slc11a2 (MGI:1345279)
chr12	51048220	51068958	12q13.12	12q13.12	619070	LETMD1, HCCR	LETM1 domain-containing protein 1	LETMD1	25875	ENSG00000050426			Letmd1 (MGI:1915864)
chr12	51061205	51083596	12q13.12	12q13.12	620404	CSRNP2	Cysteine- and serine-rich nuclear protein 2	CSRNP2	81566	ENSG00000110925			Csrnp2 (MGI:2386852)
chr12	51093656	51173135	12q13	12q13.12-q13.13	189889	TFCP2	Transcription factor CP2, alpha globin	TFCP2	7024	ENSG00000135457			Tfcp2 (MGI:98509)
chr12	51186936	51218062	12q13.13	12q13.13	618043	POU6F1, BRN5, MPOU	POU domain, class 6, transcription factor 1	POU6F1	5463	ENSG00000184271			Pou6f1 (MGI:102935)
chr12	51238826	51246717	12q13.13	12q13.13	607431	DAZAP2, KIAA0058	DAZ-associated protein 2	DAZAP2	9802	ENSG00000183283			Dazap2 (MGI:1344344)
chr12	51281038	51324668	12q13.13	12q13.13	605936	BIN2	Bridging integrator 2	BIN2	51411	ENSG00000110934	previously mapped to 4q22.1		Bin2 (MGI:3611448)
chr12	51328442	51346679	12q13	12q13.13	130120	CELA1, ELA1	Chymotrypsin-like elastase family, member 1	CELA1	1990	ENSG00000139610	on proximal 12p		Cela1 (MGI:95314)
chr12	51351252	51391673	12q13	12q13.13	605148	GALNT6, GalNAcT6	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6	GALNT6	11226	ENSG00000139629			Galnt6 (MGI:1891640)
chr12	51391446	51515763	Chr.12	12q13.13	605024	SLC4A8, NBC3	Solute carrier family 4 (sodium bicarbonate cotransporter), member 8	SLC4A8	9498	ENSG00000050438			Slc4a8 (MGI:1928745)
chr12	51591233	51812864	12q13	12q13.13	600702	SCN8A, CIAT, DEE13, BFIS5, MYOCL2	Sodium voltage-gated channel, alpha subunit 8	SCN8A	6334	ENSG00000196876	mutation identified in 1 MYOCL2 family	?Myoclonus, familial, 2, 618364 (3), Autosomal dominant; Seizures, benign familial infantile, 5, 617080 (3), Autosomal dominant; Cognitive impairment with or without cerebellar ataxia, 614306 (3), Autosomal dominant; Developmental and epileptic encephalopathy 13, 614558 (3), Autosomal dominant	Scn8a (MGI:103169)
chr12	51817899	51848718	12q13.13	12q13.13	620503	FIGNL2	Fidgetin-like protein 2	FIGNL2	401720	ENSG00000261308			Fignl2 (MGI:3646919)
chr12	51888103	51891727	12q13.13	12q13.13	620857	ANKRD33, PANKY	Ankyrin repeat domain-containing protein 33	ANKRD33	341405	ENSG00000167612			Ankrd33 (MGI:2443398)
chr12	51906944	51923361	12q11-q14	12q13.13	601284	ACVRL1, ACVRLK1, ALK1, HHT2	Activin A receptor, type II-like kinase 1	ACVRL1	94	ENSG00000139567		Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3), Autosomal dominant	Acvrl1 (MGI:1338946)
chr12	51951699	51997078	12q13	12q13.13	601300	ACVR1B, ACVRLK4, ALK4	Activin A receptor, type IB	ACVR1B	91	ENSG00000135503		Pancreatic cancer, somatic, 260350 (3)	Acvr1b (MGI:1338944)
chr12	52006946	52015889	12q13.13	12q13.13	612027	TAMALIN, GRASP	Trafficking regulator and scaffold protein tamalin	TAMALIN	160622	ENSG00000161835			Tamalin (MGI:1860303)
chr12	52022832	52059503	12q13	12q13.13	139139	NR4A1, HMR, NP10, GFRP1	Nuclear receptor subfamily 4, group A, member 1	NR4A1	3164	ENSG00000123358			Nr4a1 (MGI:1352454)
chr12	52065300	52077495	12q13.13	12q13.13	615089	ATG101, C12orf44	Autophagy related 101	ATG101	60673	ENSG00000123395			Atg101 (MGI:1915368)
chr12	52168996	52192014	12q13.13	12q13.13	611161	KRT80, KB20	Keratin 80	KRT80	144501	ENSG00000167767			Krt80 (MGI:1921377)
chr12	52233243	52255853	12q12-q14	12q13.13	148059	KRT7	Keratin 7	KRT7	3855	ENSG00000135480			Krt7 (MGI:96704)
chr12	52274645	52309163	12q13	12q13.13	601928	KRT86, KRTHB6, HB6	Keratin 86	KRT86	3892	ENSG00000170442		Monilethrix, 158000 (3), Autosomal dominant	Krt86,Krt87 (MGI:109362,MGI:3665486)
chr12	52285913	52291534	12q13	12q13.13	602153	KRT81, KRTHB1, HB1	Keratin 81	KRT81	3887	ENSG00000205426		Monilethrix, 158000 (3), Autosomal dominant	Krt81,Krt87 (MGI:1928858,MGI:3665486)
chr12	52314301	52321398	12q13	12q13.13	602765	KRT83, KRTHB3, HB3, MNLIX, EKVP5	Keratin 83	KRT83	3889	ENSG00000170523		Monilethrix, 158000 (3), Autosomal dominant; Erythrokeratodermia variabilis et progressiva 5, 617756 (3), Autosomal recessive	Krt83,Krt87 (MGI:3665486,MGI:3690448)
chr12	52360006	52367481	12q13	12q13.13	602767	KRT85, KRTHB5, HB5, ECTD4	Keratin 85	KRT85	3891	ENSG00000135443		Ectodermal dysplasia 4, hair/nail type, 602032 (3), Autosomal recessive	Krt85 (MGI:1859268)
chr12	52377812	52386977	12q13.13	12q13.13	602766	KRT84, KRTHB4, HB4	Keratin 84	KRT84	3890	ENSG00000161849			Krt84 (MGI:96700)
chr12	52393931	52406335	12q13.13	12q13.13	601078	KRT82, KRTHB2, HB2	Keratin 82	KRT82	3888	ENSG00000161850			Krt82 (MGI:2149248)
chr12	52424070	52434371	12q13	12q13.13	609025	KRT75, K6HF, PFB	Keratin 75	KRT75	9119	ENSG00000170454		{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)	Krt75 (MGI:1923500)
chr12	52446651	52452146	12q13	12q13.13	148042	KRT6B, PC4	Keratin 6B	KRT6B	3854	ENSG00000185479		Pachyonychia congenita 4, 615728 (3), Autosomal dominant	Gm5414,Gm5478,Krt6a,Krt6b (MGI:1100845,MGI:1333768,MGI:3646318,MGI:3646939)
chr12	52468516	52473805	12q13.13	12q13.13	612315	KRT6C, PPKNEFD	Keratin 6C	KRT6C	286887	ENSG00000170465		Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3), Autosomal dominant	Gm5414,Gm5478,Krt6a,Krt6b (MGI:1100845,MGI:1333768,MGI:3646318,MGI:3646939)
chr12	52487176	52493257	12q13	12q13.13	148041	KRT6A, PC3	Keratin 6A	KRT6A	3853	ENSG00000205420		Pachyonychia congenita 3, 615726 (3), Autosomal dominant	Gm5414,Gm5478,Krt6a,Krt6b (MGI:1100845,MGI:1333768,MGI:3646318,MGI:3646939)
chr12	52514575	52520394	12q13	12q13.13	148040	KRT5, DDD1, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F	Keratin 5	KRT5	3852	ENSG00000186081		Epidermolysis bullosa simplex 2A, generalized severe, 619555 (3), Autosomal dominant; Dowling-Degos disease 1, 179850 (3), Autosomal dominant; Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960 (3), Autosomal dominant; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, 619599 (3), Autosomal recessive; Epidermolysis bullosa simplex 2B, generalized intermediate, 619588 (3), Autosomal dominant; Epidermolysis bullosa simplex 2C, localized, 619594 (3), Autosomal dominant; Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352 (3), Autosomal dominant	Krt5 (MGI:96702)
chr12	52543909	52553145	12q13	12q13.13	608245	KRT71, K6IRS1, KRT6IRS1, HYPT13	Keratin 71	KRT71	112802	ENSG00000139648	mutation identified in 1 HYPT13 family	?Hypotrichosis 13, 615896 (3), Autosomal dominant	Krt71 (MGI:1861586)
chr12	52565782	52573843	12q13	12q13.13	608248	KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH	Keratin 74	KRT74	121391	ENSG00000170484	mutation identified in 1 HYPT3 family and ECTD7 family	Woolly hair, autosomal dominant, 194300 (3), Autosomal dominant; ?Hypotrichosis 3, 613981 (3), Autosomal dominant; ?Ectodermal dysplasia 7, hair/nail type, 614929 (3), Autosomal recessive	Krt74 (MGI:3629975)
chr12	52585589	52602953	12q13	12q13.13	608246	KRT72, K6IRS2, KRT6IRS2	Keratin 72	KRT72	140807	ENSG00000170486			Krt72 (MGI:2146034)
chr12	52607570	52630761	12q13	12q13.13	608247	KRT73, K6IRS3, KRT6IRS3	Keratin 73	KRT73	319101	ENSG00000186049			Krt73 (MGI:3607712)
chr12	52644558	52652211	12q11-q13	12q13.13	600194	KRT2, KRT2A, KRT2E	Keratin 2	KRT2	3849	ENSG00000172867		Ichthyosis bullosa of Siemens, 146800 (3), Autosomal dominant	Krt2 (MGI:96699)
chr12	52674736	52680407	12q13	12q13.13	139350	KRT1, EPPK, NEPPK, EHK1, AEI2	Keratin 1	KRT1	3848	ENSG00000167768	close to Hox-3 in mouse; class II keratin	Ichthyosis, annular epidermolytic 2, 620148 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, 600962 (3), Autosomal dominant; Epidermolytic hyperkeratosis 1, 113800 (3), Autosomal dominant; Palmoplantar keratoderma, epidermolytic, 2, 620411 (3), Autosomal dominant; Keratosis palmoplantaris striata III, 607654 (3); Ichthyosis histrix, Curth-Macklin type, 146590 (3), Autosomal dominant	Krt1 (MGI:96698)
chr12	52689626	52703524	12q13.13	12q13.13	611158	KRT77, K1B	Keratin 77	KRT77	374454	ENSG00000189182			Krt77 (MGI:3588209)
chr12	52768155	52777345	12q13.13	12q13.13	616671	KRT76, K76, KRT2P	Keratin 76, type II	KRT76	51350	ENSG00000185069			Krt76 (MGI:1924305)
chr12	52789685	52796117	12q13	12q13.13	148043	KRT3, MECD2	Keratin 3	KRT3	3850	ENSG00000186442		Meesmann corneal dystrophy 2, 618767 (3), Autosomal dominant	
chr12	52806549	52814116	12q13	12q13.13	123940	KRT4, CYK4, WSN1	Keratin 4	KRT4	3851	ENSG00000170477	class II keratin	White sponge nevus 1, 193900 (3), Autosomal dominant	Krt4 (MGI:96701)
chr12	52821408	52834311	12q13.13	12q13.13	611160	KRT79,  KRT6L, K6L	Keratin 79	KRT79	338785	ENSG00000185640			Krt79 (MGI:2385030)
chr12	52837804	52848994	12q13.13	12q13.13	611159	KRT78, K5B	Keratin 78	KRT78	196374	ENSG00000170423			Krt78 (MGI:1917529)
chr12	52897191	52949860	12q13	12q13.13	148060	KRT8	Keratin 8	KRT8	3856	ENSG00000170421			Krt8 (MGI:96705)
chr12	52948855	52952906	12q13	12q13.13	148070	KRT18	Keratin 18	KRT18	3875	ENSG00000111057	contiguous to KRT8, type II heteromer partner	Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive; {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive	Krt18 (MGI:96692)
chr12	53006456	53042215	12q13.13	12q13.13	603928	EIF4B	Eukaryotic translation initiation factor 4B	EIF4B	1975	ENSG00000063046			Eif4b (MGI:95304)
chr12	53046991	53064379	12q13.13	12q13.13	607717	TNS2, TENC1, C1TEN, KIAA1075	Tensin 2	TNS2	23371	ENSG00000111077			Tns2 (MGI:2387586)
chr12	53097667	53102340	Chr.12	12q13.13	146735	IGFBP6	Insulin-like growth factor-binding protein-6	IGFBP6	3489	ENSG00000167779			Igfbp6 (MGI:96441)
chr12	53103486	53124535	12q13	12q13.13	601311	SOAT2, ACACT2	Sterol O-acyltransferase 2	SOAT2	8435	ENSG00000167780			Soat2 (MGI:1332226)
chr12	53157663	53181351	12q13.13	12q13.13	616569	CSAD, CSD, PCAP	Cysteine sulfinic acid decarboxylase	CSAD	51380	ENSG00000139631			Csad (MGI:2180098)
chr12	53180722	53195142	12q13.13	12q13.13	620976	ZNF740	Zinc finger protein 740	ZNF740	283337	ENSG00000139651			Zfp740 (MGI:1915994)
chr12	53191323	53207251	12q13.13	12q13.13	147559	ITGB7	Integrin, beta-7	ITGB7	3695	ENSG00000139626			Itgb7 (MGI:96616)
chr12	53210569	53232209	12q13	12q13.13	180190	RARG	Retinoic acid receptor, gamma polypeptide	RARG	5916	ENSG00000172819			Rarg (MGI:97858)
chr12	53251197	53254406	12q13.13	12q13.13	620345	MFSD5	Major facilitator superfamily domain-containing protein 5	MFSD5	84975	ENSG00000182544			Mfsd5 (MGI:2145901)
chr12	53268299	53293638	12q13	12q13.13	604143	ESPL1, ESP1	Extra spindle poles-like 1	ESPL1	9700	ENSG00000135476	prev. mapping to chr.8		Espl1 (MGI:2146156)
chr12	53295542	53299450	12q12	12q13.13	604899	PFDN5, MM1	Prefoldin 5	PFDN5	5204	ENSG00000123349			Pfdn5 (MGI:1928753)
chr12	53299695	53307177	12q13	12q13.13	611366	MYG1, C12orf10	MYG1 exonuclease	MYG1	60314	ENSG00000139637			Myg1 (MGI:1929864)
chr12	53307460	53321610	12q13	12q13.13	605378	AAAS, AAA	Aladin WD repeat nucleoporin	AAAS	8086	ENSG00000094914		Achalasia-addisonianism-alacrimia syndrome, 231550 (3), Autosomal recessive	Aaas (MGI:2443767)
chr12	53326575	53344793	12q13.13	12q13.13	606633	SP7, OSX, OI12	Transcription factor Sp7	SP7	121340	ENSG00000170374		Osteogenesis imperfecta, type XII, 613849 (3), Autosomal recessive	Sp7 (MGI:2153568)
chr12	53380176	53416446	12q13.1	12q13.13	189906	SP1	Sp1 transcription factor	SP1	6667	ENSG00000185591			Sp1 (MGI:98372)
chr12	53423855	53431672	12q13	12q13.13	600956	AMHR2, AMHR	Anti-Mullerian hormone receptor, type II	AMHR2	269	ENSG00000135409		Persistent Mullerian duct syndrome, type II, 261550 (3), Autosomal recessive	Amhr2 (MGI:105062)
chr12	53441734	53446638	12q13.13	12q13.13	610459	PRR13, TXR1	Proline-rich protein 13	PRR13	54458	ENSG00000205352			Prr13 (MGI:1913401)
chr12	53452102	53481162	12q13.12-q13.13	12q13.13	601210	PCBP2	Poly(rC)-binding protein-2	PCBP2	5094	ENSG00000197111			Pcbp2 (MGI:108202)
chr12	53479669	53501539	12q13	12q13.13	600447	MAP3K12, ZPK	Mitogen-activated protein kinase kinase kinase 12	MAP3K12	7786	ENSG00000139625			Map3k12 (MGI:1346881)
chr12	53500923	53506431	12p12.1-q13.1	12q13.13	605053	TARBP2	TAR RNA-binding protein 2	TARBP2	6895	ENSG00000139546	pseudogene on 8q22-qter		Tarbp2 (MGI:103027)
chr12	53506688	53507484	12q13.13	12q13.13	604643	NPFF	Neuropeptide FF-amide peptide	NPFF	8620	ENSG00000139574			Npff (MGI:1891708)
chr12	53507856	53626382	Chr.12	12q13.13	606371	ATF7	Activating transcription factor 7	ATF7	11016	ENSG00000170653			Atf7 (MGI:2443472)
chr12	53665170	53681423	Chr.12	12q13.13	603193	ATP5G2	ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, isoform 2	ATP5MC2	517	ENSG00000135390			Atp5mc2 (MGI:1915192)
chr12	53938831	53946544	12q13	12q13.13	142976	HOXC13, HOX3G, ECTD9	Homeobox C13	HOXC13	3229	ENSG00000123364	fused with NUP98 in AML	Ectodermal dysplasia 9, hair/nail type, 614931 (3), Autosomal recessive	Hoxc13 (MGI:99560)
chr12	53954903	53958956	12q13	12q13.13	142975	HOXC12, HOX3F	Homeobox C12	HOXC12	3228	ENSG00000123407			Hoxc12 (MGI:96194)
chr12	53962312	53974954	12q13.13	12q13.13	611400	HOTAIR	Hox transcript antisense RNA	HOTAIR	100124700	ENSG00000228630			Hotair (MGI:3826586)
chr12	53973126	53977643	Chr.12	12q13.13	605559	HOXC11	Homeobox-C11	HOXC11	3227	ENSG00000123388			Hoxc11 (MGI:96193)
chr12	53985146	53990279	Chr.12	12q13.13	605560	HOXC10	Homeobox C10	HOXC10	3226	ENSG00000180818			Hoxc10 (MGI:96192)
chr12	53991738	53991847	12q13	12q13.13	609687	MIR196A2, MIRN196A2	Micro RNA 196A2	MIR196A2	406973	ENSG00000207924			Mir196a-2 (MGI:3618739)
chr12	54000161	54003337	12q13	12q13.13	142971	HOXC9, HOX3B	Homeobox C9	HOXC9	3225	ENSG00000180806			Hoxc9 (MGI:96199)
chr12	54008985	54012769	12q13	12q13.13	142970	HOXC8, HOX3A	Homeobox C8	HOXC8	3224	ENSG00000037965			Hoxc8 (MGI:96198)
chr12	54016888	54056030	12q13	12q13.13	142974	HOXC4, HOX3E	Homeobox C4	HOXC4	3221	ENSG00000198353			Hoxc4 (MGI:96195)
chr12	54016888	54035361	12q13	12q13.13	142973	HOXC5, HOX3D	Homeobox C5	HOXC5	3222	ENSG00000172789			Hoxc5 (MGI:96196)
chr12	54016888	54030823	12q13	12q13.13	142972	HOXC6, HOX3C	Homeobox C6	HOXC6	3223	ENSG00000197757			Hoxc6 (MGI:96197)
chr12	54126071	54132843	12q13.13	12q13.13	620723	LINC02381, HMS	Long intergenic noncoding RNA 2381	LINC02381	400043	ENSG00000250742			
chr12	54158235	54188985	12q	12q13.13	607753	SMUG1	Single-strand-selective monofunctional uracil-DNA glycosylase 1	SMUG1	23583	ENSG00000123415			Smug1 (MGI:1918976)
chr12	54230942	54280122	12q13.13	12q13.13	604478	CBX5, HP1	Chromobox 5	CBX5	23468	ENSG00000094916			Cbx5 (MGI:109372)
chr12	54280726	54287087	12q13.1	12q13.13	164017	HNRNPA1, IBMPFD3, ALS20, MPD3	Heterogeneous nuclear ribonucleoprotein A1	HNRNPA1	3178	ENSG00000135486	mutation identified in 1 IBMPFD3 family and 1 MPD3 family	?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3), Autosomal dominant; ?Myopathy, distal, 3, 610099 (3), Autosomal dominant; Amyotrophic lateral sclerosis 20, 615426 (3), Autosomal dominant	Hnrnpa1 (MGI:104820)
chr12	54292111	54301015	12q13	12q13.13	601490	NFE2	Nuclear factor, erythroid-derived 2, 45kD	NFE2	4778	ENSG00000123405			Nfe2 (MGI:97308)
chr12	54325131	54351846	12q13.13	12q13.13	615472	COPZ1, COPZ	Coatomer protein complex, subunit zeta-1	COPZ1	22818	ENSG00000111481			Copz1 (MGI:1929063)
chr12	54337216	54337314	12q13.13	12q13.13	613787	MIR148B, MIRN148B	Micro RNA 148B	MIR148B	442892	ENSG00000199122			Mir148b (MGI:3618734)
chr12	54350698	54364486	12q13.13	12q13.13	606383	GPR84	G protein-coupled receptor 84	GPR84	53831	ENSG00000139572			Gpr84 (MGI:1934129)
chr12	54369136	54391298	12q13.13	12q13.13	609124	ZNF385A, ZNF385, RZF, HZF	Zinc finger protein 385A	ZNF385A	25946	ENSG00000161642			Zfp385a (MGI:1352495)
chr12	54395261	54419266	12q11-q13	12q13.13	135620	ITGA5, FNRA, VLA5A	Integrin, alpha-5 (fibronectin receptor, alpha subunit; very late activation protein-5, alpha subunit)	ITGA5	3678	ENSG00000161638			Itga5 (MGI:96604)
chr12	54455957	54473602	12q13.2	12q13.13	617484	GTSF1, FAM112B	Gametocyte-specific factor 1	GTSF1	121355	ENSG00000170627			Gtsf1 (MGI:1921424)
chr12	54497752	54548243	12q13.1	12q13.13-q13.2	141180	NCKAP1L, HEM1, IMD72	NCK associated protein 1-like	NCKAP1L	3071	ENSG00000123338		Immunodeficiency 72 with autoinflammation, 618982 (3), Autosomal recessive	Nckap1l (MGI:1926063)
chr12	54549601	54579239	12q13	12q13.2	171891	PDE1B1, PDES1B, PDE1B	Phosphodiesterase-1B	PDE1B	5153	ENSG00000123360			Pde1b (MGI:97523)
chr12	54579246	54588659	12q13.2	12q13.2	613246	PPP1R1A, IPP1, I1	Protein phosphatase 1, regulatory subunit 1A	PPP1R1A	5502	ENSG00000135447			Ppp1r1a (MGI:1889595)
chr12	54630811	54634895	12q13	12q13.2	607360	LACRT	Lacritin	LACRT	90070	ENSG00000135413			
chr12	54644589	54648365	12q13.1	12q13.2	606634	DCD	Dermcidin	DCD	117159	ENSG00000161634			
chr12	54830681	54858387	12q13.2	12q13.2	610857	MUCL1, SBEM	Mucin-like 1	MUCL1	118430	ENSG00000172551			
chr12	54948015	54985188	12q13.2	12q13.2	615664	TESPA1, KIAA0748	Thymocyte-expressed positive selection-associated protein 1	TESPA1	9840	ENSG00000135426			Tespa1 (MGI:1914846)
chr12	55019974	55030017	12q13	12q13.2	611635	NEUROD4, MATH3	Neurogenic differentiation 4	NEUROD4	58158	ENSG00000123307			Neurod4 (MGI:108055)
chr12	55684568	55716400	12q13	12q13.2	600536	ITGA7	Integrin, alpha-7	ITGA7	3679	ENSG00000135424		Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3), Autosomal recessive	Itga7 (MGI:102700)
chr12	55716046	55719703	12q13-q14	12q13.2	601444	GCN5L1	GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1	BLOC1S1	2647	ENSG00000135441			Bloc1s1 (MGI:1195276)
chr12	55720393	55724705	12q13-q14	12q13.2	601617	RDH5	Retinol dehydrogenase-5	RDH5	5959	ENSG00000135437		Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant	Rdh5 (MGI:1201412)
chr12	55723535	55730041	12q12-q13	12q13.2	155740	CD63, MLA1	CD63 antigen (melanoma 1 antigen)	CD63	967	ENSG00000135404			Cd63 (MGI:99529)
chr12	55743122	55757264	12q13.13	12q13.2	603936	GDF11, BMP11, VHO	Growth/differentiation factor 11	GDF11	10220	ENSG00000135414	mutation identified in 1 VHO family	?Vertebral hypersegmentation and orofacial anomalies, 619122 (3), Autosomal dominant	Gdf11 (MGI:1338027)
chr12	55752463	55817724	12q13	12q13.2	610049	SARNP, CIP29, HCC1, HSPC316	SAP domain-containing ribonucleoprotein	SARNP	84324	ENSG00000205323	fused with MLL in AML		Sarnp (MGI:1913368)
chr12	55818041	55821879	12q13.2	12q13.2	610074	ORMDL2	ORM1-like protein 2	ORMDL2	29095	ENSG00000123353	pseudogene on 8q22.1		Ormdl2 (MGI:1914094)
chr12	55820985	55830775	12q13.1-q13.2	12q13.2	606092	DRIP78, HDJ3	Dopamine receptor-interacting protein, 78kD	DNAJC14	85406	ENSG00000135392			Dnajc14 (MGI:1921580)
chr12	55835433	55842936	12q14	12q13.2	601807	MMP19, MMP18, CODA	Matrix metalloproteinase-19	MMP19	4327	ENSG00000123342	triplication in upstream regulatory region	Cavitary optic disc anomalies, 611543 (3), Autosomal dominant	Mmp19 (MGI:1927899)
chr12	55901413	55927894	12q13.2	12q13.2	619753	PYM1	PYM homolog 1, exon junction complex-associated factor	PYM1	84305	ENSG00000170473			Pym1 (MGI:1925678)
chr12	55927316	55954023	12q13.3	12q13.2	125855	DGKA, DAGK1	Diacylglycerol kinase, alpha, 80kD	DGKA	1606	ENSG00000065357			Dgka (MGI:102952)
chr12	55954105	55966709	12q13-q14	12q13.2	155550	SILV, D12S53E, PMEL17	Silver, mouse, homolog of	PMEL	6490	ENSG00000185664			Pmel (MGI:98301)
chr12	55966830	55972789	12q13	12q13.2	116953	CDK2	Cyclin-dependent kinase 2	CDK2	1017	ENSG00000123374			Cdk2 (MGI:104772)
chr12	55973949	55996683	12q13	12q13.2	179514	RAB5B	Ras-associated protein RAB5B	RAB5B	5869	ENSG00000111540			Rab5b (MGI:105938)
chr12	55997276	56005525	Chr.12	12q13.2	606887	SUOX	Sulfite oxidase	SUOX	6821	ENSG00000139531		Sulfite oxidase deficiency, 272300 (3), Autosomal recessive	Suox (MGI:2446117)
chr12	56007504	56038435	12q13	12q13.2	606239	IKZF4, ZNFN1A4, EOS, KIAA1782	Ikaros family zinc finger 4	IKZF4	64375	ENSG00000123411			Ikzf4 (MGI:1343139)
chr12	56041918	56044697	12q	12q13.2	603701	RPS26, DBA10	Ribosomal protein S26	RPS26	6231	ENSG00000197728		Diamond-Blackfan anemia 10, 613309 (3), Autosomal dominant	Rps26 (MGI:1351628)
chr12	56080108	56103505	12q13	12q13.2	190151	ERBB3, LCCS2, FERLK, VSCN1	Transformation gene ERBB-3	ERBB3	2065	ENSG00000065361	mutations identified in 1 LCCS2 family and 1 FERLK family	?Lethal congenital contractural syndrome 2, 607598 (3), Autosomal recessive; {?Erythroleukemia, familial, susceptibility to}, 133180 (3), Autosomal dominant; Visceral neuropathy, familial, 1, autosomal recessive, 243180 (3), Autosomal recessive	Erbb3 (MGI:95411)
chr12	56104559	56113910	12q13	12q13.2	602145	PA2G4	Proliferation-associated 2G4, 38kD	PA2G4	5036	ENSG00000170515	family of genes on 7 chromosomes		Pa2g4 (MGI:894684)
chr12	56116633	56117967	12q13.2	12q13.2	613315	RPL41, HG12	Ribosomal protein L41	RPL41	6171	ENSG00000229117			
chr12	56128267	56144674	12q13.2	12q13.2	616670	ESYT1, MBC2, FAM62A	Extended synaptotagmin-like protein 1	ESYT1	23344	ENSG00000139641			Esyt1 (MGI:1344426)
chr12	56152587	56157982	12q13.13	12q13.2	609930	MYL6B, MLC1SA	Myosin, light chain 6B, alkali, smooth muscle and nonmuscle, slow	MYL6B	140465	ENSG00000196465			Myl6b (MGI:1917789)
chr12	56158359	56161579	12q13.2	12q13.2	609931	MYL6	Myosin light chain 6, alkali, smooth muscle and nonmuscle	MYL6	4637	ENSG00000092841			Myl6 (MGI:109318)
chr12	56162359	56189483	12q13-q14	12q13.2	601734	SMARCC2, BAF170, CSS8	SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	SMARCC2	6601	ENSG00000139613		Coffin-Siris syndrome 8, 618362 (3), Autosomal dominant	Smarcc2 (MGI:1915344)
chr12	56200001	57700000	12q13.3		614375	AAA4	Aortic aneurysm, familial abdominal 4		100859927		associated with rs1466535	Aortic aneurysm, familial abdominal 4, 614375 (2)	
chr12	56202179	56221969	12q13.3	12q13.3	620051	RNF41, FLRF, NRDP1	RING finger protein 41, E3 ubiquitin protein ligase	RNF41	10193	ENSG00000181852			Rnf41 (MGI:1914838)
chr12	56222015	56229854	12q13.3	12q13.3	612104	NAPB2, OBFC2B, SSB1	Nucleic acid-binding protein 2	NABP2	79035	ENSG00000139579			Nabp2 (MGI:1917167)
chr12	56230051	56237846	12q13.3	12q13.3	608730	SLC39A5, MYP24	Solute carrier family 39 (zinc transporter), member 5	SLC39A5	283375	ENSG00000139540		Myopia 24, autosomal dominant, 615946 (3), Autosomal dominant	Slc39a5 (MGI:1919336)
chr12	56237807	56258384	12q13.3	12q13.3	620862	ANKRD52, ARSC	Ankyrin repeat domain-containing protein 52	ANKRD52	283373	ENSG00000139645			Ankrd52 (MGI:2444029)
chr12	56266942	56270966	12q13.3	12q13.3	620736	COQ10A	Coenzyme Q10A	COQ10A	93058	ENSG00000135469			Coq10a (MGI:2684847)
chr12	56271699	56300330	12q13.2-q13.3	12q13.3	118950	CS	Citrate synthase	CS	1431	ENSG00000062485			Cs,Csl (MGI:1919082,MGI:88529)
chr12	56309844	56316346	12q15	12q13.3	605861	CNPY4, TMEM4, MSAP	Canopy 2, zebrafish, homolog of	CNPY2	10330	ENSG00000257727			Cnpy2 (MGI:1928477)
chr12	56316936	56334000	12q13.3	12q13.3	617447	PAN2, USP52, KIAA0710	PABP-dependent poly(A) nuclease 2	PAN2	9924	ENSG00000135473			Pan2 (MGI:1918984)
chr12	56338884	56340410	12q13.2	12q13.3	605580	IL23A, SGRF, P19, IL23P19	Interleukin 23, p19 subunit	IL23A	51561	ENSG00000110944			Il23a (MGI:1932410)
chr12	56341597	56360107	12q13.2	12q13.3	600556	STAT2, IMD44, PTORCH3	Signal transducer and activator of transcription 2	STAT2	6773	ENSG00000170581		Pseudo-TORCH syndrome 3, 618886 (3), Autosomal recessive; Immunodeficiency 44, 616636 (3), Autosomal recessive	Stat2 (MGI:103039)
chr12	56360568	56362857	12q13.3	12q13.3	107760	APOF, LTIP	Apolipoprotein F	APOF	319	ENSG00000175336			Apof (MGI:104539)
chr12	56416363	56449426	12q12-q13	12q13.3	603887	TIMELESS, TIM, TIM1, FASPS4	Timeless circadian regulator	TIMELESS	8914	ENSG00000111602	mutation identified in 1 FASPS4 family	?Advance sleep phase syndrome, familial, 4, 620015 (3), Autosomal dominant	Timeless (MGI:1321393)
chr12	56449502	56456553	12q13	12q13.3	154050	MIP, AQP0, CTRCT15	Major intrinsic protein of lens fiber	MIP	4284	ENSG00000135517	slightly distal to AQP2	Cataract 15, multiple types, 615274 (3), Autosomal dominant	Mip (MGI:96990)
chr12	56470952	56488161	12q13	12q13.3	606365	GLS2, GA	Glutaminase, liver	GLS2	27165	ENSG00000135423			Gls2 (MGI:2143539)
chr12	56520405	56596193	12q13.3	12q13.3	602387	RBMS2, SCR3	RNA-binding motif protein, single strand interacting, 2	RBMS2	5939	ENSG00000076067			Rbms2 (MGI:1861776)
chr12	56595596	56638318	12q24.3-qter	12q13.3	605682	BAZ2A	Bromodomain adjacent to zinc finger domain, 2A	BAZ2A	11176	ENSG00000076108			Baz2a (MGI:2151152)
chr12	56638175	56645984	12q13.3	12q13.3	102910	ATP5B, ATPSB, HUMOP2	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	ATP5F1B	506	ENSG00000110955	mutation identified in 1 HUMOP2 family	?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, 620085 (3), Autosomal dominant	Atp5f1b (MGI:107801)
chr12	56663349	56688284	12q13.3	12q13.3	607061	PTGES3, P23, CPGES	Prostaglandin E synthase 3	PTGES3	10728	ENSG00000110958			Ptges3,Ptges3-ps (MGI:1929282,MGI:3704271)
chr12	56712427	56725299	12q23-q24.1	12q13.3	601234	NACA	Nascent-polypeptide-associated complex alpha polypeptide	NACA	4666	ENSG00000196531			Naca (MGI:106095)
chr12	56731580	56752323	12q13	12q13.3	176635	PRIM1, PDIL	Primase, polypeptide-1, 49kD	PRIM1	5557	ENSG00000198056		Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, 620005 (3), Autosomal recessive	Prim1 (MGI:97757)
chr12	56763324	56787790	12q13	12q13.3	606623	HSE	3-alpha-hydroxysteroid epimerase	HSD17B6	8630	ENSG00000025423			Hsd17b6 (MGI:1351670)
chr12	56923133	56934408	12q13.3	12q13.3	609769	SDR9C7, SDRO, ARCI13	Short chain dehydrogenase/reductase family 9C member 7	SDR9C7	121214	ENSG00000170426		Ichthyosis, congenital, autosomal recessive 13, 617574 (3), Autosomal recessive	Sdr9c7 (MGI:1917311)
chr12	56951431	56957608	12q13.3	12q13.3	620043	RDH16, RODH4	Retinol dehydrogenase 16	RDH16	8608	ENSG00000139547			Rdh1,Rdh16,Rdh16f2,Rdh19,Rdh7,Rdh9 (MGI:1195275,MGI:1201375,MGI:1860517,MGI:2143528,MGI:2678390,MGI:3583955)
chr12	56994492	56998877	12q13.3	12q13.3	605307	ADMR, AMR	Adrenomedullin receptor	GPR182	11318	ENSG00000166856			Gpr182 (MGI:109545)
chr12	56998836	57006546	12q13.3	12q13.3	619384	ZBTB39, ZNF922, KIAA0352	Zinc finger- and BTB domain-containing protein 39	ZBTB39	9880	ENSG00000166860			Zbtb39 (MGI:2443316)
chr12	57010000	57016529	12q13-q21	12q13.3	162330	TAC3, NKNB, HH10	Tachykinin 3 (neuromedin K, neurokinin B)	TAC3	6866	ENSG00000166863		Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3), Autosomal recessive	Tac2 (MGI:98476)
chr12	57028517	57051198	12q13-q15	12q13.3	601478	MYO1A	Myosin IA	MYO1A	4640	ENSG00000166866			Myo1a (MGI:107732)
chr12	57055643	57088627	12q13.3	12q13.3	616496	NEMP1, TMEM194A	Nuclear envelope integral membrane protein 1	NEMP1	23306	ENSG00000166881			Nemp1 (MGI:2446113)
chr12	57089114	57095476	12q13.3-q14.1	12q13.3	602381	NAB2	NGFIA-binding protein-2	NAB2	4665	ENSG00000166886			Nab2 (MGI:107563)
chr12	57095408	57111362	12q13	12q13.3	601512	STAT6, HIES6	Signal transducer and activator of transcription-6, interleukin-4 induced	STAT6	6778	ENSG00000166888		Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, 620532 (3), Autosomal dominant	Stat6 (MGI:103034)
chr12	57128483	57213361	12q13.1-q13.3	12q13.3	107770	LRP1, A2MR, KPA, DDH3	Low density lipoprotein-related protein-1 (alpha-2-macroglobulin receptor)	LRP1	4035	ENSG00000123384	mutation identified in 1 KPA family	?Keratosis pilaris atrophicans, 604093 (3), Autosomal recessive; Developmental dysplasia of the hip 3, 620690 (3), Autosomal dominant	Lrp1 (MGI:96828)
chr12	57216794	57226449	12q13.3	12q13.3	604637	NXPH4, NPH4	Neuroexophilin 4	NXPH4	11247	ENSG00000182379			Nxph4 (MGI:1336197)
chr12	57229711	57234935	12q13	12q13.3	138450	SHMT2, GLYA, NEDCASB	Serine hydroxymethyltransferase	SHMT2	6472	ENSG00000182199	glycine A auxotroph	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121 (3), Autosomal recessive	Shmt2 (MGI:1277989)
chr12	57243458	57251187	12q13.3	12q13.3	615521	STAC3, NAM, CMYO13	SH3 and cystein-rich domains 3	STAC3	246329	ENSG00000185482		Congenital myopathy 13, 255995 (3), Autosomal recessive	Stac3 (MGI:3606571)
chr12	57253764	57431141	12q13.3	12q13.3	619886	R3HDM2, KIAA1002	R3H domain-containing protein 2	R3HDM2	22864	ENSG00000179912			R3hdm2 (MGI:1919000)
chr12	57434784	57452062	12q13.1	12q13.3	601233	INHBC	Inhibin, beta C	INHBC	3626	ENSG00000175189			Inhbc (MGI:105932)
chr12	57455307	57458025	12q13.3	12q13.3	612031	INHBE	Inhibin, beta E	INHBE	83729	ENSG00000139269			Inhbe (MGI:109269)
chr12	57459785	57472268	12q13.2-q13.3	12q13.3	165220	GLI1, PAPA8, PPD1	GLI family zinc finger 1	GLI1	2735	ENSG00000111087	mutation identified in 1 PPD1 family	Polydactyly, preaxial I, 174400 (3), Autosomal recessive; Polydactyly, postaxial, type A8, 618123 (3), Autosomal recessive	Gli1 (MGI:95727)
chr12	57472269	57488824	12q14	12q13.3	610576	ARHGAP9	Rho GTPase-activating protein 9	ARHGAP9	64333	ENSG00000123329			Arhgap9 (MGI:2143764)
chr12	57488068	57516652	12q13.3	12q13.3	156560	MARS1, MARS, MTRNS, METRS, ILLD, CMT2U, TTD9, SPG70	Methioninyl-tRNA synthetase 1	MARS1	4141	ENSG00000166986	mutation identified in 1 TTD9 patient	Spastic paraplegia 70, autosomal recessive, 620323 (3), Autosomal recessive; Interstitial lung and liver disease, 615486 (3), Autosomal recessive; ?Trichothiodystrophy 9, nonphotosensitive, 619692 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3), Autosomal dominant	Mars1 (MGI:1345633)
chr12	57516588	57520517	12q13.1-q13.2	12q13.3	126337	DDIT3, GADD153, CHOP10	DNA-damage-inducible transcript-3	DDIT3	1649	ENSG00000175197	fused with FUS in myxoid liposarcoma		Ddit3 (MGI:109247)
chr12	57519163	57519259	12q13.3	12q13.3	614489	MIR616	Micro RNA 616	MIR616	693201	ENSG00000208028			
chr12	57520715	57531545	12q13.3	12q13.3	619458	MBD6, KIAA1887	Methyl-CpG-binding domain protein 6	MBD6	114785	ENSG00000166987			Mbd6 (MGI:106378)
chr12	57530051	57547192	12q13.3	12q13.3	607376	DCTN2, DCTN50	Dynactin 2	DCTN2	10540	ENSG00000175203			Dctn2 (MGI:107733)
chr12	57550044	57586633	12q13	12q13.3	602821	KIF5A, NKHC, SPG10, NEIMY, ALS25	Kinesin family member 5A	KIF5A	3798	ENSG00000155980		Myoclonus, intractable, neonatal, 617235 (3), Autosomal dominant; {Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3), Autosomal dominant; Spastic paraplegia 10, autosomal dominant, 604187 (3), Autosomal dominant	Kif5a (MGI:109564)
chr12	57591192	57603418	12q13.3	12q13.3	617104	PIP4K2C, PIP5K2C	Phosphatidylinositol 5-phosphate 4-kinase, type II, gamma	PIP4K2C	79837	ENSG00000166908			Pip4k2c (MGI:2152214)
chr12	57604824	57609802	12q13.3	12q13.3	613142	DTX3	Deltex E3 ubiquitin ligase 3	DTX3	196403	ENSG00000178498			Dtx3 (MGI:2135752)
chr12	57610116	57617245	12q13.11	12q13.3	610215	ARHGEF25, GEFT	Rho guanine nucleotide exchange factor 25	ARHGEF25	115557	ENSG00000240771			Arhgef25 (MGI:1277173)
chr12	57623409	57633201	12q13.3	12q13.3	601873	B4GALNT1, GALGT, GALNACT, SPG26	Beta-1,4-N-acetylgalactosaminyltransferase 1	B4GALNT1	2583	ENSG00000135454		Spastic paraplegia 26, autosomal recessive, 609195 (3), Autosomal recessive	B4galnt1 (MGI:1342057)
chr12	57694132	57721557	12q13	12q13.3-q14.1	609677	OS9	OS9 endoplasmic reticulum lectin	OS9	10956	ENSG00000135506			Os9 (MGI:1924301)
chr12	57700001	67300000	12q14		177700	GLC1P	Glaucoma 1, open angle, P				caused by 300kb duplication	Glaucoma 1, open angle, P, 177700 (4), Autosomal dominant	
chr12	57700001	67300000	12q14		614354	PRO2268	PRO2268 gene		55390				
chr12	57723761	57742161	12q14.1	12q14.1	605476	AGAP2, CENTG1, PIKE	ARF-GAP with GTP-binding protein-like, ankyrin repeat, and pleckstrin homology domains 2	AGAP2	116986	ENSG00000135439			Agap2 (MGI:3580016)
chr12	57745039	57750219	12q13-q14	12q14.1	181035	TSPAN31, SAS	Tetraspanin 31	TSPAN31	6302	ENSG00000135452			Tspan31 (MGI:1914375)
chr12	57747727	57752310	12q14	12q14.1	123829	CDK4, CMM3	Cyclin-dependent kinase 4	CDK4	1019	ENSG00000135446		{Melanoma, cutaneous malignant, 3}, 609048 (3), Autosomal dominant	Cdk4 (MGI:88357)
chr12	57755103	57760411	12q14.1	12q14.1	613336	MARCH9	Membrane-associated RING-CH finger protein 9	MARCHF9	92979	ENSG00000139266			Marchf9 (MGI:2446144)
chr12	57762334	57767078	12q13.1-q13.3	12q14.1	609506	CYP27B1, VDD1, PDDR	Cytochrome P450, subfamily XXVIIB, polypeptide 1	CYP27B1	1594	ENSG00000111012		Vitamin D-dependent rickets, type I, 264700 (3), Autosomal recessive	Cyp27b1 (MGI:1098274)
chr12	57768471	57772105	12q13	12q14.1	604466	METTL1	Methyltransferase 1, tRNA methylguanosine	METTL1	4234	ENSG00000037897			Mettl1 (MGI:1339986)
chr12	57772614	57782541	12q14.1	12q14.1	615258	EEF1AKMT3, METTL21B, FAM119B	EEF1A lysine methyltransferase 3	EEF1AKMT3	25895	ENSG00000123427			Eef1akmt3 (MGI:3645330)
chr12	57782787	57802856	12q13-q14	12q14.1	604723	TSFM, COXPD3	Ts translation elongation factor, mitochondrial	TSFM	10102	ENSG00000123297		Combined oxidative phosphorylation deficiency 3, 610505 (3), Autosomal recessive	Tsfm (MGI:1913649)
chr12	57797380	57818734	12q14	12q14.1	613397	AVIL, NPHS21	Advillin	AVIL	10677	ENSG00000135407		Nephrotic syndrome, type 21, 618594 (3), Autosomal recessive	Avil (MGI:1333798)
chr12	57819927	57846729	12q14.1	12q14.1	608711	CTDSP2, SCP2, OS4	CTD small phosphatase 2	CTDSP2	10106	ENSG00000175215			Ctdsp2 (MGI:1098748)
chr12	57824609	57824692	12q14.1	12q14.1	613057	MIR26A2, MIRN26A2	Micro RNA 26A2	MIR26A2	407016	ENSG00000207789			Mir26a-2 (MGI:3619045)
chr12	57941567	57959148	12q14.1	12q14.1	619760	ATP23, KUB3, XRCC6BP1	ATP23 metallopeptidase and ATP synthase assembly factor homolog	ATP23	91419	ENSG00000166896			Atp23 (MGI:1916984)
chr12	58872155	58920504	12q13.2	12q14.1	608870	LIRG3, LIG3	Leucine-rich repeats- and immunoglobulin-like domains-containing protein 3	LRIG3	121227	ENSG00000139263			Lrig3 (MGI:2443955)
chr12	59596029	59789841	12q13	12q14.1	603654	SLC16A7, MCT2	Solute carrier family 16 (monocarboxylic acid transporters), member 7	SLC16A7	9194	ENSG00000118596			Slc16a7 (MGI:1330284)
chr12	61708273	62260034	12q14.1	12q14.1	617496	FAM19A2, TAFA2	Family with sequence similarity 19, member A2, CC motif chemokine-like	TAFA2	338811	ENSG00000198673			Tafa2 (MGI:2143691)
chr12	62260404	62416389	12q14.1	12q14.1	604731	USP15	Ubiquitin-specific protease 15	USP15	9958	ENSG00000135655			Usp15 (MGI:101857)
chr12	62466826	62600476	12q14.1	12q14.1	616822	MON2, KIAA1040	Mon2, S. cerevisiae, homolog of	MON2	23041	ENSG00000061987			Mon2 (MGI:1914324)
chr12	62603686	62603769	12q14.1	12q14.1	612148	MIRLET7I, LET7I, MIRNLET7I	Micro RNA Let7i	MIRLET7I	406891	ENSG00000199179			Mirlet7i (MGI:2676802)
chr12	62643994	62935150	12q14.1-q14.2	12q14.1-q14.2	616016	PPM1H, KIAA1157	Protein phosphatase, magnesium/manganese-dependent, 1H	PPM1H	57460	ENSG00000111110			Ppm1h (MGI:2442087)
chr12	62700001	64700000	12q14.2		610908	AUTS13	Autism, susceptibility to, 13		100188317		linkage with rs1445442	{Autism susceptibility 13}, 610908 (2)	
chr12	63142759	63151201	12q14-q15	12q14.2	600821	AVPR1A	Arginine vasopressin receptor-1A	AVPR1A	552	ENSG00000166148			Avpr1a (MGI:1859216)
chr12	63558913	63668805	12q14.2	12q14.2	613893	DPY19L2, SPGF9	DPY19-like 2	DPY19L2	283417	ENSG00000177990	pseudogene on 7p14.3	Spermatogenic failure 9, 613958 (3), Autosomal recessive	Dpy19l2 (MGI:2444662)
chr12	63779909	63809562	12q14.2	12q14.2	605862	RXYLT1, TMEM5, MDDGA10	Ribitol xylosyltransferase 1	RXYLT1	10329	ENSG00000118600		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3), Autosomal recessive	Rxylt1 (MGI:2384919)
chr12	63844700	64162217	12q14.2	12q14.2	606523	SRGAP1, KIAA1304, NMTC2	Slit-robo GTPase-activating protein, rho, 1	SRGAP1	57522	ENSG00000196935		{Thyroid cancer, nonmedullary, 2}, 188470 (3), Somatic mutation, Autosomal dominant	Srgap1 (MGI:2152936)
chr12	64186316	64222296	12q14.2	12q14.2	617420	KICS2, C12orf66, MRT83	KICSTOR subunit 2	KICS2	144577	ENSG00000174206		Intellectual developmental disorder, autosomal recessive 83, 621100 (3), Autosomal recessive	Kics2 (MGI:2670984)
chr12	64404392	64451125	12q14.2	12q14.2	603180	XPOT	Exportin, tRNA	XPOT	11260	ENSG00000184575			Xpot (MGI:1920442)
chr12	64452120	64502114	12q14.2	12q14.2	604834	TBK1, NAK, FTDALS4, IIAE8, AIARV	TANK-binding kinase 1	TBK1	29110	ENSG00000183735		{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3), Autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3), Autosomal dominant; Autoinflammation with arthritis and vasculitis, 620880 (3), Autosomal recessive	Tbk1 (MGI:1929658)
chr12	64506964	64697564	12q14.1	12q14.2	607019	RASSF3	Ras association domain family protein 3	RASSF3	283349	ENSG00000153179			Rassf3 (MGI:2179722)
chr12	64700001	67300000	12q14.3		611547	STQTL9	Stature quantitative trait locus 9				associated with rs1042725	{Stature QTL 9}, 611547 (2)	
chr12	64713449	64759406	12q14	12q14.3	607664	GNS, G6S	N-acetylglucosamine-6-sulfatase	GNS	2799	ENSG00000135677		Mucopolysaccharidosis type IIID, 252940 (3), Autosomal recessive	Gns (MGI:1922862)
chr12	64759484	64881033	12q14.3	12q14.3	615077	TBC1D30, KIAA0984	TBC1 domain family, member 30	TBC1D30	23329	ENSG00000111490			Tbc1d30 (MGI:1921944)
chr12	65050626	65121305	Chr.12	12q14.3	605186	WIF1	WNT inhibitory factor 1	WIF1	11197	ENSG00000156076			Wif1 (MGI:1344332)
chr12	65169583	65248355	12q14	12q14.3	607844	LEMD3, MAN1	LEM domain-containing 3	LEMD3	23592	ENSG00000174106		Buschke-Ollendorff syndrome, 166700 (3), Autosomal dominant; Osteopoikilosis with or without melorheostosis, 166700 (3), Autosomal dominant	Lemd3 (MGI:3580376)
chr12	65278683	65466907	12q14.3	12q14.3	613719	MSRB3, DFNB74	Methionine sulfoxide reductase B3	MSRB3	253827	ENSG00000174099		Deafness, autosomal recessive 74, 613718 (3), Autosomal recessive	Msrb3 (MGI:2443538)
chr12	65824460	65966291	12q14.3	12q14.3	600698	HMGA2, HMGIC, BABL, SRS5	High-mobility group AT-hook 2	HMGA2	8091	ENSG00000149948	fusion partners with RAD51B, ALDH2, COX6C, HEI10 in uterine leiomyomas	Silver-Russell syndrome 5, 618908 (3), Autosomal dominant	Hmga2 (MGI:101761)
chr12	66116555	66130750	12q14.3	12q14.3	616998	LLPH	LLP, Aplysia, homolog of	LLPH	84298	ENSG00000139233			Llph,Llph-ps1,Llph-ps2 (MGI:1913475,MGI:3642864,MGI:3649506)
chr12	66135846	66169996	12q14.3	12q14.3	616874	TMBIM4, GAAP, S1R	Transmembrane BAX inhibitor motif-containing protein 4	TMBIM4	51643	ENSG00000155957			Tmbim4 (MGI:1915462)
chr12	66189214	66254622	12q14.3	12q14.3	604459	IRAK3, IRAKM, ASRT5	Interleukin 1 receptor-associated kinase 3	IRAK3	11213	ENSG00000090376		{Asthma susceptibility 5}, 611064 (3)	Irak3 (MGI:1921164)
chr12	66302493	66343643	12q13	12q14.3	614539	HELB, HDHB	Helicase, DNA, B	HELB	92797	ENSG00000127311			Helb (MGI:2152895)
chr12	66347431	67069338	12q14.3	12q14.3	604597	GRIP1, FRASRS3	Glutamate receptor-interacting protein 1	GRIP1	23426	ENSG00000155974		Fraser syndrome 3, 617667 (3), Autosomal recessive	Grip1 (MGI:1921303)
chr12	67269358	67319953	12q14.3-q15	12q14.3-q15	607727	CAND1, TIP120A, TIP120, KIAA0829	Cullin-associated neddylation-dissociated protein 1	CAND1	55832	ENSG00000111530			Cand1 (MGI:1261820)
chr12	67300001	71100000	12q15		612639	IBD26	Inflammatory bowel disease 26		100271838		associated with rs1558744	{Inflammatory bowel disease 26}, 612639 (2)	
chr12	67648745	67665406	12q14	12q15	603496	DYRK2	Dual-specificity tyrosine phosphorylation-regulated kinase 2	DYRK2	8445	ENSG00000127334			Dyrk2 (MGI:1330301)
chr12	68154768	68159740	12q14	12q15	147570	IFNG, IFG, IFI, IMD69	Interferon, gamma	IFNG	3458	ENSG00000111537	mutation identified in 1 IMD69 family	{Hepatitis C virus, response to therapy of}, 609532 (3); {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3), Autosomal dominant; {Aplastic anemia}, 609135 (3); ?Immunodeficiency 69, mycobacteriosis, 618963 (3), Autosomal recessive; {Tuberculosis, protection against}, 607948 (3); {AIDS, rapid progression to}, 609423 (3)	Ifng (MGI:107656)
chr12	68201349	68225810	12q15	12q15	605679	IL26, AK155	Interleukin 26	IL26	55801	ENSG00000111536			
chr12	68248242	68253604	12q15	12q15	605330	IL22, IL21, ILTIF	Interleukin 22	IL22	50616	ENSG00000127318			Il22,Il22b (MGI:1355307,MGI:2151139)
chr12	68294566	68332362	12q15	12q15	613813	MDM1	MDM1 nuclear protein	MDM1	56890	ENSG00000111554			Mdm1 (MGI:96951)
chr12	68610899	68671901	12q14	12q15	179530	RAP1B, THC11	RAS-related protein RAP1B	RAP1B	5908	ENSG00000127314		Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, 620654 (3), Autosomal dominant	Rap1b (MGI:894315)
chr12	68686978	68745809	12q15	12q15	607617	NUP107, NUP84, NPHS11, ODG6; GAMOS7	Nucleoporin, 107kD	NUP107	57122	ENSG00000111581	mutation identified in 1 ODG6 family	?Ovarian dysgenesis 6, 618078 (3), Autosomal recessive; Galloway-Mowat syndrome 7, 618348 (3), Autosomal recessive; Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive	Nup107 (MGI:2143854)
chr12	68746176	68781468	12q15	12q15	620355	SLC35E3, BLOV1	Solute carrier family 35, member E3	SLC35E3	55508	ENSG00000175782			Slc35e3 (MGI:2448489)
chr12	68808172	68850686	12q14.3-q15	12q15	164785	MDM2, ACTFS, LSKB	MDM2 protooncogene	MDM2	4193	ENSG00000135679	mutation identified in 1 LSKB patient	{Accelerated tumor formation, susceptibility to}, 614401 (3), Autosomal dominant; ?Lessel-Kubisch syndrome, 618681 (3), Autosomal recessive	Mdm2 (MGI:96952)
chr12	68842197	68963469	12q15	12q15	114860	CPM	Carboxypeptidase M	CPM	1368	ENSG00000135678			Cpm (MGI:1917824)
chr12	69239569	69274358	Chr.12	12q15	604979	CPSF6, CFIM	Cleavage and polyadenylation specific factor 6, 68kD subunit	CPSF6	11052	ENSG00000111605			Cpsf6 (MGI:1913948)
chr12	69348381	69354234	12q15	12q15	153450	LYZ, AMYLD5	Lysozyme	LYZ	4069	ENSG00000090382		Amyloidosis, hereditary systemic 5, 620658 (3)	Lyz1,Lyz2,Lyz3 (MGI:1924647,MGI:96897,MGI:96902)
chr12	69359743	69427072	12q13-q15	12q15	602116	YEATS4, GAS41	YEATS domain-containing protein 4	YEATS4	8089	ENSG00000127337			Yeats4 (MGI:1927224)
chr12	69470388	69579793	12q15	12q15	607743	FRS2, FRS1A, SNT1	Fibroblast growth factor receptor substrate 2	FRS2	10818	ENSG00000166225			Frs2 (MGI:1100860)
chr12	69585459	69601570	Chr.12	12q15	605139	CCT2, CCTB	Chaperonin containing T-complex polypeptide 1, subunit 2	CCT2	10576	ENSG00000166226			Cct2 (MGI:107186)
chr12	69608564	69610907	12q15	12q15	610846	LRRC10, HRLRRP	Leucine-rich repeat-containing protein 10	LRRC10	376132	ENSG00000198812			Lrrc10 (MGI:2448063)
chr12	69643508	69699303	12q14.2-q15	12q15	607337	BEST3, VMD2L3	Bestrophin 3	BEST3	144453	ENSG00000127325			Best3 (MGI:3580298)
chr12	69738242	69823204	12q15	12q15	608686	RAB3IP, RABIN8, RABIN3	RAB3A-interacting protein	RAB3IP	117177	ENSG00000127328			Rab3ip (MGI:105933)
chr12	70222190	70243360	12q15	12q15	619085	PRANCR, LINC01481	Progenitor renewal-associated noncoding RNA	PRANCR	101928062	ENSG00000257815			
chr12	70243018	70354993	12q15	12q15	604909	CNOT2, NOT2, IDNADFS	CCR4-NOT transcription complex, subunit 2	CNOT2	4848	ENSG00000111596		Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3), Autosomal dominant	Cnot2 (MGI:1919318)
chr12	70366290	70434292	12q14.1-q15	12q15	605223	KCNMB4	Potassium large conductance calcium-activated channel, subfamily M, beta member 4	KCNMB4	27345	ENSG00000135643			Kcnmb4 (MGI:1913272)
chr12	70515870	70637429	12q15-q21	12q15	176882	PTPRB	Protein tyrosine phosphatase, receptor type, beta polypeptide	PTPRB	5787	ENSG00000127329			Ptprb (MGI:97809)
chr12	70638073	70920738	12q15	12q15	602853	PTPRR, PCPTP1	Protein-tyrosine phosphatase, receptor type, R	PTPRR	5801	ENSG00000153233			Ptprr (MGI:109559)
chr12	71100001	108600000	12q21-q23		612715	DUH2	Dyschromatosis universalis hereditaria 2		100301525		between rs1921045 and rs2373584	Dyschromatosis universalis hereditaria 2, 612715 (2)	
chr12	71100001	108600000	12q21-q23		603221	MYP3	Myopia, high grade, 3, autosomal dominant		8782			Myopia-3, 603221 (2), Autosomal dominant	
chr12	71100001	92200000	12q21		169900	PEPB	Peptidase B	PEPB	5182				Pepb (MGI:97540)
chr12	71125096	71157999	12q14.1-q21.1	12q21.1	600769	TSPAN8, TM4SF3	Tetraspanin 8	TSPAN8	7103	ENSG00000127324			Tspan8 (MGI:2384918)
chr12	71439129	71586310	12q21.1	12q21.1	606667	LGR5, GPR49	Leucine-rich repeat-containing G protein-coupled receptor 5	LGR5	8549	ENSG00000139292			Lgr5 (MGI:1341817)
chr12	71609599	71663848	12q21.1	12q21.1	620956	ZFC3H1, PSRC2, CCDC131, CSRC2	Zinc finger C3H1 domain-containing protein	ZFC3H1	196441	ENSG00000133858			Zfc3h1 (MGI:2446143)
chr12	71664301	71680644	12q21.1	12q21.1	612531	THAP2	THAP domain-containing protein 2	THAP2	83591	ENSG00000173451			Thap2 (MGI:1914066)
chr12	71754863	71800286	12q21.1	12q21.1	612398	RAB21, KIAA0118	RAB-associated protein RAB21	RAB21	23011	ENSG00000080371			Rab21 (MGI:894308)
chr12	71839759	71924313	12q21.1	12q21.1	612662	TBC1D15	TBC1 domain family, member 15	TBC1D15	64786	ENSG00000121749			Tbc1d15 (MGI:1913937)
chr12	71938845	72032440	12q21.1	12q21.1	607478	TPH2, NTPH, ADHD7	Tryptophan hydroxylase 2	TPH2	121278	ENSG00000139287	mutation identified in 1 ADHD7 family	{?Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3); {Unipolar depression, susceptibility to}, 608516 (3)	Tph2 (MGI:2651811)
chr12	72087266	72670758	12q15-q21	12q21.1	606950	TRHDE	Thyrotropin-releasing hormone-degrading ectoenzyme	TRHDE	29953	ENSG00000072657			Trhde (MGI:2384311)
chr12	74537835	74545430	12q21	12q21.1	615579	ATXN7L3B	Ataxin 7-like 3B	ATXN7L3B	552889	ENSG00000253719			Atxn7l3b (MGI:1914971)
chr12	75040078	75209839	12q21.1	12q21.1	176256	KCNC2, DEE103	Potassium voltage-gated channel, Shaw-related subfamily, member 2	KCNC2	3747	ENSG00000166006	previously on 19q13.3-q13.4	Developmental and epileptic encephalopathy 103, 619913 (3), Autosomal dominant	Kcnc2 (MGI:96668)
chr12	75275979	75390901	12q15	12q21.1-q21.2	607724	CAPS2	Calcyphosine 2	CAPS2	84698	ENSG00000180881			Caps2 (MGI:2441980)
chr12	75334670	75370560	12q21	12q21.2	610395	GLIPR1L1	GLIPR1-like protein 1	GLIPR1L1	256710	ENSG00000173401			Glipr1l1,Glipr1l3 (MGI:1916536,MGI:3620621)
chr12	75391089	75432688	12q21	12q21.2	610394	GLIPR1L2	GLIPR1-like protein 2	GLIPR1L2	144321	ENSG00000180481			Glipr1l2 (MGI:1914787)
chr12	75480755	75503863	12q21	12q21.2	602692	GLIPR1, GLIPR, RTVP1	Glioma pathogenesis-related protein 1	GLIPR1	11010	ENSG00000139278			Glipr1 (MGI:1920940)
chr12	75490863	75511609	12q21.2	12q21.2	612817	KRR1	KRR1 small subunitprocessome component homolog	KRR1	11103	ENSG00000111615			Krr1 (MGI:1289274)
chr12	76025447	76031776	12q15-q21.2	12q21.2	605335	PHLDA1, TDAG51	Pleckstrin homology-like domain, family A, member 1	PHLDA1	22822	ENSG00000139289			Phlda1 (MGI:1096880)
chr12	76036585	76084685	12q21.2	12q21.2	164060	NAP1L1, NAP1L	Nucleosome assembly protein 1-like 1	NAP1L1	4673	ENSG00000187109			Nap1l1 (MGI:1855693)
chr12	76344474	76348415	12q21.2	12q21.2	610148	BBS10, C12orf58, FLJ23560	BBS10 gene	BBS10	79738	ENSG00000179941		Bardet-Biedl syndrome 10, 615987 (3), Autosomal recessive	Bbs10 (MGI:1919019)
chr12	76351797	76559771	12p	12q21.2	606736	OSBPL8, ORP8, KIAA1451	Oxysterol-binding protein-like protein 8	OSBPL8	114882	ENSG00000091039			Osbpl8 (MGI:2443807)
chr12	76764115	76853701	12q14-q15	12q21.2	607799	ZDHHC17, HIP14	Zinc finger DHHC domain-containing protein 17	ZDHHC17	23390	ENSG00000186908			Zdhhc17 (MGI:2445110)
chr12	76858709	76879019	12q21.1	12q21.2	601871	CSRP2, LMO5	Cysteine and glycine-rich protein-2 (LIM domain only 5, smooth muscle)	CSRP2	1466	ENSG00000175183	pseudogene on 3q21.1		Csrp2 (MGI:1202907)
chr12	77021251	77065569	12q21.3	12q21.2	612046	E2F7	E2F transcription factor 7	E2F7	144455	ENSG00000165891			E2f7 (MGI:1289147)
chr12	77571862	78213010	12q21.1	12q21.2	611629	NAV3, POMFIl1, KIAA0938	Neuron navigator 3	NAV3	89795	ENSG00000067798			Nav3 (MGI:2183703)
chr12	78863982	79452008	12cen-q21	12q21.2	185605	SYT1, BAGOS	Synaptotagmin-1	SYT1	6857	ENSG00000067715		Baker-Gordon syndrome, 618218 (3), Autosomal dominant	Syt1 (MGI:99667)
chr12	79584879	79690964	12q21	12q21.2	601936	PAWR, PAR4	PRKC, apoptosis, WT1, regulator	PAWR	5074	ENSG00000177425			Pawr (MGI:2149961)
chr12	79773563	79935460	12q15-q21.2	12q21.2-q21.31	602021	PPP1R12A, MYPT1, GUBS	Protein phosphatase 1, regulatory subunit 12A (myosin phosphatase target subunit 1)	PPP1R12A	4659	ENSG00000058272		Genitourinary and/or/brain malformation syndrome, 618820 (3), Autosomal dominant	Ppp1r12a (MGI:1309528)
chr12	80099537	80380880	12q21.31	12q21.31	614925	OTOGL, C12orf64, DFNB84B	Otogelin-like protein	OTOGL	283310	ENSG00000165899		Deafness, autosomal recessive 84B, 614944 (3), Autosomal recessive	Otogl (MGI:3647600)
chr12	80444235	80680273	12q21.2	12q21.31	603317	PTPRQ, PTPGMC1, DFNB84A, DFNA73	Protein-tyrosine phosphatase, receptor-type, Q	PTPRQ	374462	ENSG00000139304	mutation identified in 1 DFNA73 family	Deafness, autosomal dominant 73, 617663 (3), Autosomal dominant; Deafness, autosomal recessive 84A, 613391 (3), Autosomal recessive	Ptprq (MGI:1096349)
chr12	80707634	80709474	12q21	12q21.31	159991	MYF6, CNM3	Myogenic factor-6	MYF6	4618	ENSG00000111046			Myf6 (MGI:97253)
chr12	80716912	80719671	12q21	12q21.31	159990	MYF5, EORVA	Myogenic factor-5	MYF5	4617	ENSG00000111049		Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3), Autosomal recessive	Myf5 (MGI:97252)
chr12	80792520	80937934	12q21.31	12q21.31	603380	LIN7A, VELI1, MALS1	Lin7 homolog A, crumbs cell polarity complex component	LIN7A	8825	ENSG00000111052			Lin7a (MGI:2135609)
chr12	81077871	81261210	12q21.31	12q21.31	614356	ACSS3	Acyl-CoA synthetase short-chain family, member 3	ACSS3	79611	ENSG00000111058			Acss3 (MGI:2685720)
chr12	81257975	81759350	12q21.31	12q21.31	603143	PPFIA2	PTPRF-interacting protein alpha-2	PPFIA2	8499	ENSG00000139220			Ppfia2 (MGI:2443834)
chr12	82352303	82358805	12q21.31	12q21.31	619280	CCDC59, BR22, TAP26	Coiled-coil domain-containing protein 59	CCDC59	29080	ENSG00000133773			Ccdc59 (MGI:1289302)
chr12	82686906	83134866	12q21.31	12q21.31	615856	TMTC2	Transmembrane and tetratricopeptide repeat domains-containing protein 2	TMTC2	160335	ENSG00000179104			Tmtc2 (MGI:1914057)
chr12	84859491	84912799	12q21.3-q21.4	12q21.31	607971	SLC6A15, SBAT1	Solute carrier family 6 (neurotransmitter transporter), member 15	SLC6A15	55117	ENSG00000072041			Slc6a15 (MGI:2143484)
chr12	85036351	85272805	12q21.31	12q21.31	620922	LRRIQ1	Leucine-rich repeats- and IQ motif-containing protein 1	LRRIQ1	84125	ENSG00000133640			Lrriq1 (MGI:1922228)
chr12	85280220	85301784	12q21.3-q22	12q21.31	601527	ALX1, CART1, FND3	Aristaless-like homeobox 1 (cartilage homeoprotein 1)	ALX1	8092	ENSG00000180318		Frontonasal dysplasia 3, 613456 (3), Autosomal recessive	Alx1 (MGI:104621)
chr12	85800703	85836409	12q21.31	12q21.31	610383	RASSF9, PAMCI, PCIP1	Ras association domain family, member 9	RASSF9	9182	ENSG00000198774			Rassf9 (MGI:2384307)
chr12	85874295	85882992	12q21	12q21.31	162650	NTS	Neurotensin	NTS	4922	ENSG00000133636			Nts (MGI:1328351)
chr12	85955667	86839000	12q21	12q21.31-q21.32	607385	GNTIVH	UDP-N-acetylglucosamine:alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV	MGAT4C	25834	ENSG00000182050			Mgat4c (MGI:1914819)
chr12	88049016	88142088	12q21.3	12q21.32	610142	CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14	Centrosomal protein, 290kD	CEP290	80184	ENSG00000198707	mutation identified in 1 BBS14 family	Leber congenital amaurosis 10, 611755 (3); Joubert syndrome 5, 610188 (3), Autosomal recessive; Senior-Loken syndrome 6, 610189 (3), Autosomal recessive; ?Bardet-Biedl syndrome 14, 615991 (3), Autosomal recessive; Meckel syndrome 4, 611134 (3), Autosomal recessive	Cep290 (MGI:2384917)
chr12	88142307	88199887	12q21.32	12q21.32	617218	TMTC3, SMILE, LIS8	Transmembrane and tetratricopeptide repeat domains-containing protein 3	TMTC3	160418	ENSG00000139324		Lissencephaly 8, 617255 (3), Autosomal recessive	Tmtc3 (MGI:3036255)
chr12	88492793	88580471	12q22	12q21.32	184745	KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69, WS2F	KIT ligand (mast cell growth factor; steel, mouse, homolog of)	KITLG	4254	ENSG00000049130	associated with dbSNP rs12821256	Hyperpigmentation with or without hypopigmentation, 145250 (3), Autosomal dominant; Waardenburg syndrome, type 2F, 619947 (3), Autosomal recessive; Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3), Autosomal dominant; [Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3)	Kitl (MGI:96974)
chr12	88600001	92200000	12q21.33		121400	CNA1	Cornea plana 1, autosomal dominant		1255		between D12S82 and D12S351	Cornea plana 1, autosomal dominant, 121400 (2), Autosomal dominant	
chr12	88600001	92200000	12q21.33		612868	PACD	Corneal dystrophy, posterior amorphous				contiguous gene deletion syndrome	Corneal dystrophy, posterior amorphous, 612868 (4), Autosomal dominant	
chr12	89347235	89352501	12q21.33	12q21.33	602748	DUSP6, MKP3, PYST1, HH19	Dual-specificity phosphatase-6	DUSP6	1848	ENSG00000139318		Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3), Autosomal dominant	Dusp6 (MGI:1914853)
chr12	89401467	89526047	12q21.33	12q21.33	614784	POC1B, PIX1, CORD20	POC1B antisense RNA 1	POC1B	282809	ENSG00000139323		Cone-rod dystrophy 20, 615973 (3), Autosomal recessive	Poc1b (MGI:1918511)
chr12	89519412	89524796	12q21.3-q22	12q21.33	603565	GALNT4, GalNAcT4	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4	GALNT4	8693	ENSG00000257594			Galnt4 (MGI:894692)
chr12	89588049	89709366	12q21-q23	12q21.33	108731	ATP2B1, PMCA1, MRD66	ATPase, Ca++ transporting, plasma membrane, 1	ATP2B1	490	ENSG00000070961		Intellectual developmental disorder, autosomal dominant 66, 619910 (3), Autosomal dominant	Atp2b1 (MGI:104653)
chr12	90952215	90955176	12q21.33	12q21.33	620881	CCER1	Coiled-coil glutamate-rich protein 1	CCER1	196477	ENSG00000197651			Ccer1 (MGI:1913966)
chr12	90963682	91004972	12q21	12q21.33	601657	EPYC, DSPG3	Epiphycan	EPYC	1833	ENSG00000083782			Epyc (MGI:107942)
chr12	91050491	91058024	12q22	12q21.33	603288	KERA, CNA2	Keratocan	KERA	11081	ENSG00000139330		Cornea plana 2, autosomal recessive, 217300 (3), Autosomal recessive	Kera (MGI:1202398)
chr12	91102629	91111494	12q21.3-q22	12q21.33	600616	LUM, LDC	Lumican	LUM	4060	ENSG00000139329			Lum (MGI:109347)
chr12	91140484	91182817	12q21.3	12q21.33	125255	DCN, CSCD	Decorin	DCN	1634	ENSG00000011465	conflicting assignments to 12q23 and 12q13.2	Corneal dystrophy, congenital stromal, 610048 (3), Autosomal dominant	Dcn (MGI:94872)
chr12	92140278	92145846	12q22	12q21.33	109580	BTG1	BTG antiproliferation factor 1	BTG1	694	ENSG00000133639			Btg1 (MGI:88215)
chr12	92200001	108600000	12q22-q23.3		608096	ETL2, FTLE	Epilepsy, familial temporal lobe		619399		max lod at D12S1706	Epilepsy, familial temporal lobe, 2, 608096 (2), Autosomal dominant	
chr12	92200001	103500000	12q22-q23.2		608520	MDD1	Major depressive disorder		431708		max lod with D12S1706	Major depressive disorder 1, 608516 (2)	
chr12	92420086	92432999	12q22	12q22	616989	CLLU1OS	Chronic lymphocytic leukemia upregulated 1, opposite strand	CLLU1-AS1	574016	ENSG00000205057			
chr12	92421531	92431002	12q22	12q22	616988	CLLU1	Chronic lymphocytic leukemia upregulated gene 1	CLLU1	574028	ENSG00000257127			
chr12	92770637	92929295	12q22	12q22	605070	EEA1	Early endosome antigen 1	EEA1	8411	ENSG00000102189			Eea1 (MGI:2442192)
chr12	93377925	93408146	12q22	12q22	609229	NUDT4, DIPP2, KIAA0487	Nudix hydrolase 4	NUDT4	11163	ENSG00000173598			Nudt4 (MGI:1918457)
chr12	93405684	93441947	12q22	12q22	603679	UBE2N, UBCHBEN, UBC13	Ubiquitin-conjugating enzyme E2 N	UBE2N	7334	ENSG00000177889			Ube2n (MGI:1934835)
chr12	93467514	93516214	12q22	12q22	611847	MRPL42, MRPL31, MRPS32	Mitochondrial ribosomal protein L42	MRPL42	28977	ENSG00000198015			Mrpl42 (MGI:1333774)
chr12	93565628	93571398	12q22	12q22	617269	SOCS2AS1	SOCS2 antisense RNA 1	SOCS2-AS1	144481	ENSG00000246985			
chr12	93569969	93626236	12q22	12q22	605117	SOCS2, STATI2, CIS2	Suppressor of cytokine signaling 2	SOCS2	8835	ENSG00000120833			Socs2 (MGI:1201787)
chr12	93677375	93894840	12q21.33-q23.1	12q22	603454	CRADD, RAIDD, MRT34	Caspase and RIP adaptor with death domain	CRADD	8738	ENSG00000169372		Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, 614499 (3), Autosomal recessive	Cradd (MGI:1336168)
chr12	94265662	94460454	12q22	12q22	615847	CEP83, CCDC41, NPHP18	Centrosomal protein, 83kD	CEP83	51134	ENSG00000173588		Nephronophthisis 18, 615862 (3), Autosomal recessive	Cep83 (MGI:1924298)
chr12	94148577	94307675	Chr.12	12q22	604259	VESPR	Virus-encoded semaphorin protein receptor	PLXNC1	10154	ENSG00000136040			Plxnc1 (MGI:1890127)
chr12	94567122	94650557	12q22	12q22	617459	TMCC3	Transmembrane and coiled-coil domain family, member 3	TMCC3	57458	ENSG00000057704			Tmcc3 (MGI:2442900)
chr12	94834398	94834513	12q22	12q22	614384	MIR492	Micro RNA 492	MIR492	574449	ENSG00000283998	within KRT19		
chr12	94971333	95003697	12q22	12q22	614530	NDUFA12, MC1DN23	NADH-ubiquinone oxidoreductase subunit A12	NDUFA12	55967	ENSG00000184752		Mitochondrial complex I deficiency, nuclear type 23, 618244 (3), Autosomal recessive	Ndufa12 (MGI:1913664)
chr12	95020229	95073618	12q22	12q22	601529	NR2C1, TR2	Nuclear receptor subfamily 2, group C, member 1	NR2C1	7181	ENSG00000120798			Nr2c1 (MGI:1352465)
chr12	95076749	95217467	12q22	12q22	613520	FGD6, ZFYVE24	FYVE, RhoGEF, and ph domain-containing protein 6	FGD6	55785	ENSG00000180263			Fgd6 (MGI:1261419)
chr12	95217807	95302799	12q22	12q22	619749	VEZT	Vezatin, adherens junctions transmembrane protein	VEZT	55591	ENSG00000028203			Vezt (MGI:2143698)
chr12	95474152	95515839	12q22	12q22	601870	METAP2, p67	Methionine aminopeptidase 2	METAP2	10988	ENSG00000111142			Metap2 (MGI:1929701)
chr12	95516560	95551681	12q22	12q22	610993	USP44	Ubiquitin-specific protease 44	USP44	84101	ENSG00000136014			Usp44 (MGI:3045318)
chr12	95657807	95791155	12q22-q23	12q22	610401	NTN4	Netrin 4	NTN4	59277	ENSG00000074527			Ntn4 (MGI:1888978)
chr12	95800001	133275309	12q23-q24		613096	SPG36	Spastic paraplegia-36		791228		between D12S360 and D12S354	Spastic paraplegia 36, autosomal dominant, 613096 (2), Autosomal dominant	
chr12	95858952	95866140	12q23.1	12q23.1	603541	SNRPF	Small nuclear ribonucleoprotein polypeptide F	SNRPF	6636	ENSG00000139343			Snrpf (MGI:1917128)
chr12	95943331	95968720	12q23.1	12q23.1	620863	AMDHD1	Amidohydrolase domain-containing protein 1	AMDHD1	144193	ENSG00000139344			Amdhd1 (MGI:1919011)
chr12	95972662	95996344	12q22-q23	12q23.1	609457	HAL, HSTD	Histidine ammonia-lyase (histidase)	HAL	3034	ENSG00000084110		[Histidinemia], 235800 (3), Autosomal recessive, Autosomal dominant	Hal (MGI:96010)
chr12	96000753	96043520	12q22	12q23.1	151570	LTA4H	Leukotriene A4 hydrolase	LTA4H	4048	ENSG00000111144			Lta4h (MGI:96836)
chr12	96194375	96269824	12q23	12q23.1	600247	ELK3, SAP2, ERP	ELK3, ETS-domain protein (SRF accessory protein 2)	ELK3	2004	ENSG00000111145			Elk3 (MGI:101762)
chr12	96278225	96400439	12q23.1	12q23.1	603440	CDK17, PCTK2, PCTAIRE2	Cyclin-dependent kinase 17	CDK17	5128	ENSG00000059758			Cdk17 (MGI:97517)
chr12	96489577	96875555	12q23.1	12q23.1	621121	CFAP54	Cilia- and flagella-associated protein 54	CFAP54	144535	ENSG00000188596			
chr12	96907257	96953780	12q22	12q23.1	600372	NEDD1	Neural precursor cell expressed, developmentally down-regulated 1	NEDD1	121441	ENSG00000139350			Nedd1 (MGI:97293)
chr12	97462804	97565035	12q21	12q23.1	607045	RMST, NCRMS, NCRNA00054	Rhabdomyosarcoma 2-associated transcript	RMST	196475	ENSG00000255794			
chr12	98515573	98550351	12q22	12q23.1	188380	TMPO, LAP2	Thymopoietin	TMPO	7112	ENSG00000120802			Tmpo (MGI:106920)
chr12	98593686	98606367	12q23	12q23.1	600370	SLC25A3, PHC	Solute carrier family 25 (mitochondrial carrier), member 3	SLC25A3	5250	ENSG00000075415		Mitochondrial phosphate carrier deficiency, 610773 (3), Autosomal recessive	Slc25a3 (MGI:1353498)
chr12	98613404	98644788	12q23	12q23.1	609861	IKIP	I-kappa-B kinase-interacting protein	IKBIP	121457	ENSG00000166130			Ikbip (MGI:1914704)
chr12	98645290	98735433	12q23	12q23.1	602233	APAF1	Apoptotic protease activating factor 1	APAF1	317	ENSG00000120868			Apaf1 (MGI:1306796)
chr12	98734786	99984936	12q23.1	12q23.1	607815	ANKS1B, EB1	Ankyrin repeat and sterile alpha motif domain-containing protein 1B	ANKS1B	56899	ENSG00000185046			Anks1b (MGI:1924781)
chr12	100037072	100142874	12q23.1	12q23.1	619811	UHRF1BP1L, SHIP164, KIAA0701	UHRF1-binding protein 1-like	BLTP3B	23074	ENSG00000111647			Bltp3b (MGI:2442888)
chr12	100200815	100224424	12q23.1	12q23.1	619729	ACTR6, ARP6	Actin-related protein 6	ACTR6	64431	ENSG00000075089			Actr6 (MGI:1914269)
chr12	100267177	100341715	12q23.1	12q23.1	616365	SCYL2, CVAK104, KIAA1360, AMC4	SCY1-like protein 2	SCYL2	55681	ENSG00000136021		Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766 (3), Autosomal recessive	Scyl2 (MGI:1289172)
chr12	100357074	100422055	12q23	12q23.1	607557	SLC17A8, VGLUT3, DFNA25	Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (vesicular glutamate transporter 3)	SLC17A8	246213	ENSG00000179520		Deafness, autosomal dominant 25, 605583 (3), Autosomal dominant	Slc17a8 (MGI:3039629)
chr12	100473866	100564414	12q23.1	12q23.1	603826	NR1H4, FXR, RIP14, PFIC5	Nuclear receptor subfamily 1 group H member 4	NR1H4	9971	ENSG00000012504		Cholestasis, progressive familial intrahepatic, 5, 617049 (3), Autosomal recessive	Nr1h4 (MGI:1352464)
chr12	100573684	100628288	12q23.1	12q23.1	617224	GAS2L3, G2L3	Growth arrest-specific 2-like 3	GAS2L3	283431	ENSG00000139354			Gas2l3 (MGI:1918780)
chr12	100717261	101128641	12q23	12q23.1	610111	TMEM16D, FLJ34272	Transmembrane protein 16D	ANO4	121601	ENSG00000151572			Ano4 (MGI:2443344)
chr12	101155493	101210238	12q22-q23	12q23.1-q23.2	608044	SLC5A8, AIT, SMCT	Solute carrier family (iodide transporter), member 8	SLC5A8	160728	ENSG00000256870			Slc5a8 (MGI:2384916)
chr12	101200001	103500000	12q23.2		614985	HELLPAR, lncHELLP	HELLP syndrome-associated long noncoding RNA	HELLPAR	101101692				
chr12	101280105	101386618	12q23.2-q23.3	12q23.2	612822	UTP20, DRIM	UTP20 small subunit processome component	UTP20	27340	ENSG00000120800			Utp20 (MGI:1917933)
chr12	101393116	101407820	12q23.2	12q23.2	603425	ARL1	ADP ribosylation factor-like GTPase 1	ARL1	400	ENSG00000120805			Arl1 (MGI:99436)
chr12	101475336	101486997	12q22	12q23.2	612568	SPIC	SPIC transcription factor	SPIC	121599	ENSG00000166211			Spic (MGI:1341168)
chr12	101594971	101695841	12q23.2	12q23.2	160794	MYBPC1, LCCS4, CMYO16	Myosin-binding protein C, slow type	MYBPC1	4604	ENSG00000196091		Congenital myopathy 16, 618524 (3), Autosomal dominant; Lethal congenital contracture syndrome 4, 614915 (3), Autosomal recessive; Arthrogryposis, distal, type 1B, 614335 (3), Autosomal dominant	Mybpc1 (MGI:1336213)
chr12	101697640	101729074	12q23.2	12q23.2	616747	CHPT1, CPT, CPT1	Choline phosphotransferase 1	CHPT1	56994	ENSG00000111666			Chpt1 (MGI:2384841)
chr12	101728648	101739462	12q23	12q23.2	604759	SYCP3, SCP3, COR1, SPGF4, RPRGL4	Synaptonemal complex protein 3	SYCP3	50511	ENSG00000139351		Pregnancy loss, recurrent, 4, 270960 (3), Autosomal dominant; Spermatogenic failure 4, 270960 (3), Autosomal dominant	Gm773,Sycp3 (MGI:109542,MGI:2685619)
chr12	101745499	101830959	12q23.3	12q23.2	607840	GNPTAB, GNPTA	N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits	GNPTAB	79158	ENSG00000111670	conflicting assignment to 4q	Mucolipidosis III alpha/beta, 252600 (3), Autosomal recessive; Mucolipidosis II alpha/beta, 252500 (3), Autosomal recessive	Gnptab (MGI:3643902)
chr12	101877580	101923612	12q23.2	12q23.2	610776	DRAM1	Damage-regulated autophagy modulator 1	DRAM1	55332	ENSG00000136048			Dram1 (MGI:1918962)
chr12	102012840	102062124	12q23.2	12q23.2	619925	WASHC3, CCDC53	WASH complex, subunit 3	WASHC3	51019	ENSG00000120860			Washc3 (MGI:1914532)
chr12	102073103	102120114	12q23.2	12q23.2	609264	NUP37, p37, MCPH24	Nucleoporin, 37kD	NUP37	79023	ENSG00000075188	mutation identified in 1 MCPH24 family	?Microcephaly 24, primary, autosomal recessive, 618179 (3), Autosomal recessive	Nup37 (MGI:1919964)
chr12	102120183	102197520	12q23	12q23.2	613687	C12orf48, AROM, PARPBP	Chromosome 12 open reading frame 48	PARPBP	55010	ENSG00000185480			Parpbp (MGI:1922567)
chr12	102196459	102197833	12q23-q24	12q23.2	176795	PMCH	Pro-melanin-concentrating hormone	PMCH	5367	ENSG00000183395			Pmch (MGI:97629)
chr12	102395874	102481839	12q22-q24.1	12q23.2	147440	IGF1	Insulin-like growth factor-1, or somatomedin C	IGF1	3479	ENSG00000017427		Insulin-like growth factor I deficiency, 608747 (3), Autosomal recessive	Igf1 (MGI:96432)
chr12	102836889	102958441	12q24.1	12q23.2	612349	PAH, PKU1	Phenylalanine hydroxylase	PAH	5053	ENSG00000171759	close to IGF1	[Hyperphenylalaninemia, non-PKU mild], 261600 (3), Autosomal recessive; Phenylketonuria, 261600 (3), Autosomal recessive	Pah (MGI:97473)
chr12	102957674	102960513	12q22-q23	12q23.2	100790	ASCL1, ASH1	Achaete-scute family bHLH transcription factor 1	ASCL1	429	ENSG00000139352	distal to PAH and proximal to TRA1		Ascl1 (MGI:96919)
chr12	103587273	103766719	12q23.3	12q23.3	608561	STAB2, FEEL2	Stabilin 2	STAB2	55576	ENSG00000136011			Stab2 (MGI:2178743)
chr12	103746315	103841234	12q22-q23.1	12q23.3	611076	NT5DC3, TU12B1TY, GNN	5' nucleotidase domain-containing protein 3	NT5DC3	51559	ENSG00000111696			Nt5dc3 (MGI:3513266)
chr12	103930410	103947926	12q23.3	12q23.3	191175	HSP90B1, TRA1, GRP94, GP96	Heat-shock protein, 90kD, beta, 1	HSP90B1	7184	ENSG00000166598			Hsp90b1 (MGI:98817)
chr12	103950194	103965707	12q23.3	12q23.3	618812	C12orf73, BR	Chromosome 12 open reading frame 73 (brawnin)	UQCC6	728568	ENSG00000204954			Uqcc6 (MGI:3698433)
chr12	103965872	103988874	12q24.1	12q23.3	601423	TDG	Thymine-DNA glycosylase	TDG	6996	ENSG00000139372			Tdg,Tdg-ps (MGI:108247,MGI:3645587)
chr12	104064531	104106524	12q23.3	12q23.3	607926	HCFC2, HCF2	Host cell factor C2	HCFC2	29915	ENSG00000111727			Hcfc2 (MGI:1915183)
chr12	104117086	104138210	12q23.3	12q23.3	189904	NFYB	Transcription factor NF-Y, B subunit	NFYB	4801	ENSG00000120837			Nfyb (MGI:97317)
chr12	104215779	104350307	12q23-q24.1	12q23.3	601112	TXNRD1, TXNR	Thioredoxin reductase-1	TXNRD1	7296	ENSG00000198431			Txnrd1 (MGI:1354175)
chr12	104303739	104305205	12q23-q24.1	12q23.3	612986	EID3, NSMCE4B, NSE4B	E1A-like inhibitor of differentiation 3	EID3	493861	ENSG00000255150			Eid3 (MGI:1913591)
chr12	104456948	104762014	12q23	12q23.3	610128	CHST11, C4ST1, OCBMD	Carbohydrate sulfotransferase 11	CHST11	50515	ENSG00000171310	mutation identified in 1 OCBMD family	?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, 618167 (3), Autosomal recessive	Chst11 (MGI:1927166)
chr12	104801801	104958746	12q23.3	12q23.3	610802	SLC41A2	Solute carrier family 41, member 2	SLC41A2	84102	ENSG00000136052			Slc41a2 (MGI:2442940)
chr12	105019790	105084458	12q23.3	12q23.3	613584	ALDH1L2	Aldehyde dehydrogenase 1 family, member L2	ALDH1L2	160428	ENSG00000136010			Aldh1l2 (MGI:2444680)
chr12	105107731	105169130	12q23.3	12q23.3	615748	WASHC4, KIAA1033, SWIP, MRT43	WASH complex, subunit 4	WASHC4	23325	ENSG00000136051		Intellectual developmental disorder, autosomal recessive 43, 615817 (3), Autosomal recessive	Washc4 (MGI:2441787)
chr12	105173300	105236174	12q24.1	12q23.3	606231	APPL2, FLJ10659	Adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper-containing protein 2	APPL2	55198	ENSG00000136044			Appl2 (MGI:2384914)
chr12	106063345	106138954	12q23.3	12q23.3	608130	NUAK1, ARK5,  KIAA0537	NUAK family, SNF1-like kinase, 1	NUAK1	9891	ENSG00000074590			Nuak1 (MGI:1925226)
chr12	106237881	106248020	12q23.3	12q23.3	618595	CKAP4, CLIMP63	Cytoskeleton-associated protein 4	CKAP4	10970	ENSG00000136026			Ckap4 (MGI:2444926)
chr12	106297935	106347003	12q23.3	12q23.3	619889	TCP11L2	T-complex protein 11-like 2	TCP11L2	255394	ENSG00000166046			Tcp11l2 (MGI:2444679)
chr12	106357748	106510198	12q23.3	12q23.3	614366	POLR3B, RPC2, C128, HLD8, CMT1I	Polymerase III, RNA, subunit B	POLR3B	55703	ENSG00000013503		Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3), Autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, type 1I, 619742 (3), Autosomal dominant	Polr3b (MGI:1917678)
chr12	106583004	106762803	12q23.3	12q23.3	603958	RFX4	Regulatory factor X, 4	RFX4	5992	ENSG00000111783			Rfx4 (MGI:1918387)
chr12	106774682	106889316	12q23.3	12q23.3	609147	RIC8B	RIC8 guanine nucleotide exchange factor B	RIC8B	55188	ENSG00000111785			Ric8b (MGI:2682307)
chr12	106977277	106987146	12q23.3	12q23.3	616929	MTERF2, MTERFD3	Transcription termination factor 2, mitochondrial	MTERF2	80298	ENSG00000120832			Mterf2 (MGI:1921488)
chr12	106991364	107093549	12q23-q24.1	12q23.3	601933	CRY1, PHLL1, DSPD	Cryptochrome 1 (photolyase-like)	CRY1	1407	ENSG00000008405		{Delayed sleep phase disorder, susceptibility to}, 614163 (3), Autosomal dominant	Cry1 (MGI:1270841)
chr12	107318434	107659642	12q23.3	12q23.3	621028	ABTB3, BTBD11	Ankyrin repeat- and BTB domain-containing protein 3	ABTB3	121551	ENSG00000151136			Abtb3 (MGI:1921257)
chr12	107685799	107713162	12q23.3	12q23.3	620055	PWP1, NCLB	PWP1 homolog, endonuclein	PWP1	11137	ENSG00000136045			Pwp1 (MGI:1914735)
chr12	107732871	107761137	12q23-q24.1	12q23.3	605780	PRDM4, PFM1	PR domain-containing protein 4	PRDM4	11108	ENSG00000110851			Prdm4 (MGI:1920093)
chr12	107774704	107776644	12q23.3	12q23.3	609155	ASCL4, HASH4	Achaete-scute family bHLH transcription factor 4	ASCL4	121549	ENSG00000187855			Ascl4 (MGI:1914591)
chr12	108129288	108250537	12q23.3	12q23.3	619253	WSCD2, KIAA0789	WSC domain-containing protein 2	WSCD2	9671	ENSG00000075035			Wscd2 (MGI:2445030)
chr12	108288046	108339311	12q24.1	12q23.3	602351	CMKLR1	Chemokine-like receptor 1	CMKLR1	1240	ENSG00000174600			Cmklr1 (MGI:109603)
chr12	108515277	108521210	12q23.3	12q23.3	620875	FICD, HYPE, SPG92	FIC domain-containing protein adenylyltransferase	FICD	11153	ENSG00000198855		Spastic paraplegia 92, autosomal recessive, 620911 (3), Autosomal recessive	Ficd (MGI:1098550)
chr12	108522214	108561173	12q24.1	12q23.3	611684	SART3, P100, KIAA0156, TIP110	Spliceosome-associated factor 3, U4/U6 recycling protein	SART3	9733	ENSG00000075856			Sart3 (MGI:1858230)
chr12	108561463	108569384	12q24.1	12q23.3	611911	ISCU, HML	Iron-sulfur cluster assembly enzyme	ISCU	23479	ENSG00000136003		Myopathy with lactic acidosis, hereditary, 255125 (3), Autosomal recessive	Iscu (MGI:1913633)
chr12	108589851	108598084	12q23.3	12q23.3	618989	TMEM119, OBIF	Transmembrane protein 119	TMEM119	338773	ENSG00000183160			Tmem119 (MGI:2385228)
chr12	108600001	133275309	12q24		612011	CELIAC13	Celiac disease, susceptibility to, 13		100188875		associated with rs3184504	{Celiac disease, susceptibility to, 13}, 612011 (2)	
chr12	108600001	133275309	12q24		608447	CIMT	Carotid intimal medial thickness		404677		161cM from pter; near SCARB1	Carotid intimal medial thickness, 608447 (2)	
chr12	108600001	133275309	12q24		607411	PDA1	Patent ductus arteriosus		100996949			{Patent ductus arteriosus, susceptibility to}, 607411 (2), Autosomal recessive	
chr12	108600001	120300000	12q24.1-q24.2		175850	POROK2, PPPD1	Porokeratosis 2, palmar, plantar, and disseminated		100196910		between D12S1613 and D12S1341	Porokeratosis 2, palmar, plantar, and disseminated, 175850 (2), Autosomal dominant	
chr12	108600001	133275309	12q24		608437	SLEB4	Systemic lupus erythematosus, susceptibility to, 4		404714			{Systemic lupus erythematosus, susceptibility to, 4}, 608437 (2)	
chr12	108600001	113900000	12q24.1		609261	STUT2	Stuttering, familial persistent, 2		100049543		max lod with PAH	Stuttering, familial persistent, 2, 609261 (2)	
chr12	108621895	108633894	12q24	12q24.11	600738	SELPLG, PSGL1	Selectin P ligand	SELPLG	6404	ENSG00000110876			Selplg (MGI:106689)
chr12	108645109	108731518	12q24.1	12q24.11	605269	CORO1C	Coronin 1C	CORO1C	23603	ENSG00000110880			Coro1c (MGI:1345964)
chr12	108778191	108857583	12q24.11	12q24.11	606778	SSH1, KIAA1298	Slingshot protein phosphatase 1	SSH1	54434	ENSG00000084112			Ssh1 (MGI:2686240)
chr12	108880092	108901043	12q24	12q24.11	124050	DAO, DAMOX	D-amino-acid oxidase	DAO	1610	ENSG00000110887			Dao (MGI:94859)
chr12	108907741	109021068	12q24.1	12q24.11	611699	SVOP	SV2-related protein	SVOP	55530	ENSG00000166111			Svop (MGI:1915916)
chr12	109023089	109088023	12q23-q24	12q24.11	612492	USP30	Ubiquitin-specific protease 30	USP30	84749	ENSG00000135093			Usp30 (MGI:2140991)
chr12	109088189	109093472	12q23.3	12q24.11	610602	ALKBH2, ABH2	AlkB homolog 2, alpha-ketoglutarate-dependent dioxygenase	ALKBH2	121642	ENSG00000189046			Alkbh2 (MGI:2141032)
chr12	109097597	109110992	12q23-q24.1	12q24.11	191525	UNG, DGU, HIGM5	Uracil-DNA glycosylase	UNG	7374	ENSG00000076248		Immunodeficiency with hyper IgM, type 5, 608106 (3), Autosomal recessive	Ung (MGI:109352)
chr12	109111189	109268226	12q24.1	12q24.11	601557	ACACB, ACCB, ACC2	Acetyl-Coenzyme A carboxylase, beta	ACACB	32	ENSG00000076555			Acacb (MGI:2140940)
chr12	109277978	109309284	12q24.1	12q24.11	609429	FOXN4	Forkhead box N4	FOXN4	121643	ENSG00000139445			Foxn4 (MGI:2151057)
chr12	109310468	109448379	12q24.11	12q24.11	614636	MYO1H, CCHS2	Myosin IH	MYO1H	283446	ENSG00000174527	mutation identified in 1 CCHS2 family	?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, 619482 (3), Autosomal recessive	Myo1h (MGI:1914674)
chr12	109448655	109477300	12q24.11	12q24.11	613421	KCTD10	Potassium channel tetramerization domain-containing 10	KCTD10	83892	ENSG00000110906			Kctd10 (MGI:2141207)
chr12	109477634	109547829	12q24.11	12q24.11	608047	UBE3B, BPIDS, KOS	Ubiquitin-protein ligase E3B	UBE3B	89910	ENSG00000151148		Kaufman oculocerebrofacial syndrome, 244450 (3), Autosomal recessive	Ube3b (MGI:1891295)
chr12	109553715	109573504	12q24	12q24.11	607568	MMAB	Metabolism of cobalamin associated B	MMAB	326625	ENSG00000139428		Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 (3), Autosomal recessive	Mmab (MGI:1924947)
chr12	109573272	109598125	12q24	12q24.11	251170	MVK, MVLK, POROK3	Mevalonate kinase	MVK	4598	ENSG00000110921		Hyper-IgD syndrome, 260920 (3), Autosomal recessive; Porokeratosis 3, multiple types, 175900 (3), Autosomal dominant; Mevalonic aciduria, 610377 (3), Autosomal recessive	Mvk (MGI:107624)
chr12	109783087	109833398	12q24.1	12q24.11	605427	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	Transient receptor potential cation channel, subfamily V, member 4 (vanilloid receptor-related osmotically activated channel)	TRPV4	59341	ENSG00000111199	mutation identified in 1 ANFH2 family	Neuronopathy, distal hereditary motor, autosomal dominant 8, 600175 (3), Autosomal dominant; Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3), Autosomal dominant; Digital arthropathy-brachydactyly, familial, 606835 (3), Autosomal dominant; [Sodium serum level QTL 1], 613508 (3); SED, Maroteaux type, 184095 (3), Autosomal dominant; Metatropic dysplasia, 156530 (3), Autosomal dominant; Scapuloperoneal spinal muscular atrophy, 181405 (3), Autosomal dominant; Hereditary motor and sensory neuropathy, type IIc, 606071 (3), Autosomal dominant; ?Avascular necrosis of femoral head, primary, 2, 617383 (3), Autosomal dominant; Parastremmatic dwarfism, 168400 (3), Autosomal dominant; Brachyolmia type 3, 113500 (3), Autosomal dominant	Trpv4 (MGI:1926945)
chr12	109850945	109880541	12q24.11	12q24.11	608949	GLTP	Glycolipid transfer protein	GLTP	51228	ENSG00000139433			Gltp (MGI:1929253)
chr12	109880667	109918069	12q24.1	12q24.11	612654	TCHP	Trichoplein	TCHP	84260	ENSG00000139437			Tchp (MGI:1925082)
chr12	109929804	110000164	12q24.1	12q24.11	608564	GIT2, CAT2	GIT ArfGAP 2	GIT2	9815	ENSG00000139436			Git2 (MGI:1347053)
chr12	109999213	110039763	12q24.11	12q24.11	615123	ANKRD13A	Ankyrin repeat domain-containing protein 13A	ANKRD13A	88455	ENSG00000076513			Ankrd13a (MGI:1915670)
chr12	110124357	110218793	12q24.13	12q24.11	605489	IFT81, DV1, CDV1R, SRTD19	Intraflagellar transport 81	IFT81	28981	ENSG00000122970		Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3), Autosomal recessive	Ift81 (MGI:1098597)
chr12	110280616	110351093	12q23-q24.1	12q24.11	108740	ATP2A2, ATP2B, DAR	ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2	ATP2A2	488	ENSG00000174437		Acrokeratosis verruciformis, 101900 (3), Autosomal dominant; Darier disease, 124200 (3), Autosomal dominant	Atp2a2 (MGI:88110)
chr12	110372900	110403708	12q24.11	12q24.11	606949	ANAPC7, APC7, FERBON	Anaphase-promoting complex, subunit 7	ANAPC7	51434	ENSG00000196510		Ferguson-Bonni neurodevelopmental syndrome, 619699 (3), Autosomal recessive	Anapc7 (MGI:1929711)
chr12	110434823	110450337	12q24.11	12q24.11	604225	ARPC3, ARC21	Actin-related protein 2/3 complex, subunit 3	ARPC3	10094	ENSG00000111229			Arpc3 (MGI:1928375)
chr12	110491083	110502111	12q24.11	12q24.11	606932	VPS29, PEP11	VPS29 retromer complex component	VPS29	51699	ENSG00000111237			Vps29 (MGI:1928344)
chr12	110502331	110533556	12q24	12q24.11	608368	RAD9B	RAD9 checkpoint clamp component B	RAD9B	144715	ENSG00000151164			Rad9b (MGI:2385231)
chr12	110533245	110583318	12q24.1	12q24.11	609668	PPTC7, TAPP2C	Protein phosphatase targeting CoQ7	PPTC7	160760	ENSG00000196850			Pptc7 (MGI:2444593)
chr12	110614129	110649430	12q24.1	12q24.11	609863	TCTN1, TECT1, JBTS13	Tectonic family, member 1	TCTN1	79600	ENSG00000204852		Joubert syndrome 13, 614173 (3), Autosomal recessive	Tctn1 (MGI:3603820)
chr12	110648686	110704952	12q24.11	12q24.11	611227	HVCN1, HV1, VSOP	Hydrogen voltage-gated channel 1	HVCN1	84329	ENSG00000122986			Hvcn1 (MGI:1921346)
chr12	110708376	110742891	12q24.1-q24.2	12q24.11	176914	PPP1CC	Protein phosphatase-1, catalytic subunit, gamma isoform	PPP1CC	5501	ENSG00000186298			Ppp1cc,Ppp1ccb (MGI:104872,MGI:3647492)
chr12	110844486	110907535	12q24.11	12q24.11	617969	CCDC63, ODA5	Coiled-coil domain-containing protein 63	CCDC63	160762	ENSG00000173093			Ccdc63 (MGI:3607777)
chr12	110910845	110921449	12q23-q24.3	12q24.11	160781	MYL2, CMH10, MFM12	Myosin, light polypeptide-2, regulatory, cardiac, slow	MYL2	4633	ENSG00000111245		Cardiomyopathy, hypertrophic, 10, 608758 (3), Autosomal dominant; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, 619424 (3), Autosomal recessive	Myl2 (MGI:97272)
chr12	111034165	111350554	12q24.1	12q24.11-q24.12	610648	CUX2, CDP2, CUTL2, DEE67	Cut-like homeobox 2	CUX2	23316	ENSG00000111249		Developmental and epileptic encephalopathy 67, 618141 (3), Autosomal dominant	Cux2 (MGI:107321)
chr12	111360679	111369095	12q24.12	12q24.12	614239	PHETA1, FAM109A, SES1, IPIP27A	PH domain-containing endocytic trafficking adaptor 1	PHETA1	144717	ENSG00000198324			Pheta1 (MGI:2442708)
chr12	111404730	111451623	12q24	12q24.12	605093	SH2B3, LNK	SH2B adaptor protein 3	SH2B3	10019	ENSG00000111252		Thrombocythemia, somatic, 187950 (3); Myelofibrosis, somatic, 254450 (3); Erythrocytosis, somatic, 133100 (3)	Sh2b3 (MGI:893598)
chr12	111452214	111599673	12q24	12q24.12	601517	ATXN2, ATX2, SCA2, ASL13	Ataxin-2	ATXN2	6311	ENSG00000204842		{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3), Autosomal dominant; Spinocerebellar ataxia 2, 183090 (3), Autosomal dominant; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant	Atxn2 (MGI:1277223)
chr12	111642146	111685956	12q24	12q24.12	604986	BRAP, BRAP2, IMP	BRCA1-associated protein	BRAP	8315	ENSG00000089234			Brap (MGI:1919649)
chr12	111686053	111757099	12q24.1	12q24.12	611181	ACAD10	Acyl-CoA dehydrogenase family, member 10	ACAD10	80724	ENSG00000111271			Acad10,Acad12 (MGI:1919235,MGI:2443320)
chr12	111766933	111817532	12q24.2	12q24.12	100650	ALDH2	Aldehyde dehydrogenase 2 family, mitochondrial	ALDH2	217	ENSG00000111275		{Esophageal cancer, alcohol-related, susceptibility to} (3); {Sublingual nitroglycerin, susceptibility to poor response to} (3); Alcohol sensitivity, acute, 610251 (3), Autosomal dominant; {Hangover, susceptibility to}, 610251 (3), Autosomal dominant	Aldh2 (MGI:99600)
chr12	111842228	111902222	12q24.12-q24.13	12q24.12-q24.13	606723	MAPKAPK5, PRAK, NCFD	Mitogen-activated protein kinase-activated protein kinase 5	MAPKAPK5	8550	ENSG00000089022		Neurocardiofaciodigital syndrome, 619869 (3), Autosomal recessive	Mapkapk5 (MGI:1333110)
chr12	112013426	112023449	Chr.12	12q24.13	602287	C12orf8, ERP28, ERP29	Endoplasmic reticulum lumenal protein 28	ERP29	10961	ENSG00000089248			Erp29 (MGI:1914647)
chr12	112026689	112108783	12q24.13	12q24.13	612755	NAA25, MDM20, C12orf30	N-alpha-acetyltransferase 25, NatB auxiliary subunit	NAA25	80018	ENSG00000111300			Naa25 (MGI:2442563)
chr12	112125560	112153604	12q24.13	12q24.13	613197	TRAFD1, FLN29	TRAF-type zinc finger domain-containing 1	TRAFD1	10906	ENSG00000135148			Trafd1 (MGI:1923551)
chr12	112160195	112382431	12q24.13	12q24.13	620209	HECTD4, C12orf51, NEDSSCC	HECT domain E3 ubiquitin protein ligase 4	HECTD4	283450	ENSG00000173064		Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, 620250 (3), Autosomal recessive	Hectd4 (MGI:3647820)
chr12	112405181	112418835	12q	12q24.13	603703	RPL6	Ribosomal protein L6	RPL6	6128	ENSG00000089009			Rpl6,Rpl6l (MGI:108057,MGI:3647789)
chr12	112418947	112509918	12q24.1	12q24.13	176876	PTPN11, PTP2C, SHP2, NS1, JMML, METCDS	Protein tyrosine phosphatase, nonreceptor-type, 11	PTPN11	5781	ENSG00000179295		Noonan syndrome 1, 163950 (3), Autosomal dominant; LEOPARD syndrome 1, 151100 (3), Autosomal dominant; Metachondromatosis, 156250 (3), Autosomal dominant; Leukemia, juvenile myelomonocytic, somatic, 607785 (3)	Ptpn11 (MGI:99511)
chr12	112575236	112898881	12q24.1	12q24.13	612159	RPH3A, KIAA0985	Rabphilin 3A	RPH3A	22895	ENSG00000089169			Rph3a (MGI:102788)
chr12	112906962	112933219	12q24.2	12q24.13	164350	OAS1, OIAS, IMD100	2',5'-oligoadenylate synthetase-1	OAS1	4938	ENSG00000089127		Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, 618042 (3), Autosomal dominant	Oas1a,Oas1b,Oas1c,Oas1d,Oas1e,Oas1f,Oas1g,Oas1h (MGI:2140770,MGI:2149633,MGI:2180853,MGI:2180855,MGI:2180856,MGI:2180860,MGI:97429,MGI:97430)
chr12	112938474	112973251	12q24.2	12q24.13	603351	OAS3	2',5'-oligoadenylate synthetase-3	OAS3	4940	ENSG00000111331			Oas3 (MGI:2180850)
chr12	112978519	113011723	12q24.2	12q24.13	603350	OAS2	2',5'-oligoadenylate synthetase-2	OAS2	4939	ENSG00000111335			Oas2 (MGI:2180852)
chr12	113056730	113098025	12q24	12q24.13	602582	DTX1	Deltex E3 ubiquitin ligase 1	DTX1	1840	ENSG00000135144			Dtx1 (MGI:1352744)
chr12	113099278	113136756	12q23-q24	12q24.13	604118	RASAL1, RASAL	Ras protein activator-like 1	RASAL1	8437	ENSG00000111344			Rasal1 (MGI:1330842)
chr12	113157173	113185478	12q22-q23	12q24.13	611665	DDX54, DP97	DEAD-box helicase 54	DDX54	79039	ENSG00000123064			Ddx54 (MGI:1919240)
chr12	113185721	113192368	12q24.13	12q24.13	620696	RITA1	RBPJ-interacting and tubulin-associated protein 1	RITA1	84934	ENSG00000139405			Rita1 (MGI:1922021)
chr12	113221464	113298585	12q24.1	12q24.13	609666	TPCN1, TPC1, KIAA1169	Two-pore segment channel 1	TPCN1	53373	ENSG00000186815			Tpcn1 (MGI:2182472)
chr12	113298771	113335109	12q24	12q24.13	609841	SLC8B1, SLC24A6, NCKX6	Solute carrier family 8 member B1	SLC8B1	80024	ENSG00000089060			Slc8b1 (MGI:2180781)
chr12	113358587	113391629	12q24.13	12q24.13	620097	PLBD2, p76	Phospholipase B domain containing 2	PLBD2	196463	ENSG00000151176			Plbd2 (MGI:1919022)
chr12	113392445	113403887	12q24.13	12q24.13	182128	SDS, SDH	Serine dehydratase	SDS	10993	ENSG00000135094			Sds (MGI:98270)
chr12	113422380	113438276	12q24.13	12q24.13	620735	SDSL, SDHL, CSDH	Serine dehydratase-like protein	SDSL	113675	ENSG00000139410			Sdsl (MGI:2182607)
chr12	113462033	113471871	12q24.31-q24.32	12q24.13	605992	LHX5	LIM homeobox protein 5	LHX5	64211	ENSG00000089116			Lhx5 (MGI:107792)
chr12	113816740	113966325	12q24.13-q24.21	12q24.13-q24.21	616444	RBM19, KIAA0682	RNA-binding motif protein 19	RBM19	9904	ENSG00000122965			Rbm19 (MGI:1921361)
chr12	113900001	133275309	12q24.2-q24.3		614422	CTRCT37, CCA5	Cataract 37		100861439		between D12S1718 and D12S1723	Cataract 37, autosomal dominant, 614422 (2), Autosomal dominant	
chr12	113900001	120300000	12q24.2		601407	NIDDM2	Diabetes mellitus, noninsulin-dependent, 2		4813		no mutations found in HNF1A	Diabetes mellitus, noninsulin-dependent, 2, 601407 (2)	
chr12	113900001	133275309	12q24.2-q24.3		603416	RPL21P1, ALFN1, HALF1	Ribosomal protein L21 pseudogene 1	RPL21P1	6145	ENSG00000214760			
chr12	114353911	114408442	12q24.1	12q24.21	601620	TBX5	T-box 5	TBX5	6910	ENSG00000089225		Holt-Oram syndrome, 142900 (3), Autosomal dominant	Tbx5 (MGI:102541)
chr12	114670255	114684175	12q24.1	12q24.21	601621	TBX3	T-box 3	TBX3	6926	ENSG00000135111		Ulnar-mammary syndrome, 181450 (3), Autosomal dominant	Tbx3 (MGI:98495)
chr12	115958576	116277693	12q24	12q24.21	608771	MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD	Mediator complex subunit 13-like	MED13L	23389	ENSG00000123066		Impaired intellectual development and distinctive facial features with or without cardiac defects, 616789 (3), Autosomal dominant	Med13l (MGI:2670178)
chr12	116559381	116576606	12q24.22	12q24.22	620673	MAP1LC3B2	Microtubule-associated protein 1, light chain 3, beta-2	MAP1LC3B2	643246	ENSG00000258102			Map1lc3b (MGI:1914693)
chr12	116738315	116853631	12q24.22	12q24.22	620254	RNFT2	RING finger protein, transmembrane 2	RNFT2	84900	ENSG00000135119			Rnft2 (MGI:2442859)
chr12	116856144	116881441	12q24.2	12q24.22	603447	HRK, DP5	Harakiri	HRK	8739	ENSG00000135116			Hrk (MGI:1201608)
chr12	116910950	117031148	12q24.23	12q24.22	609073	FBXW8, FBW8, FBXW6, FBW6, FBXO29, FBX29	F-box and WD40 domain protein 8	FBXW8	26259	ENSG00000174989			Fbxw8 (MGI:1923041)
chr12	117038923	117099416	12q24.2	12q24.22	611585	TESC, TSC	Tescalcin, mouse, homolog of	TESC	54997	ENSG00000088992			Tesc,Tescl (MGI:1916551,MGI:1930803)
chr12	117141991	117190470	12q24.23	12q24.22	609095	FBXO21, FBX21, KIAA0875	F-box only protein 21	FBXO21	23014	ENSG00000135108			Fbxo21 (MGI:1924223)
chr12	117208142	117361626	12q24.2-q24.31	12q24.22	163731	NOS1	Nitric oxide synthase 1, neuronal	NOS1	4842	ENSG00000089250			Nos1 (MGI:97360)
chr12	117453012	117968990	12q24.2	12q24.22-q24.23	610737	KSR2	Kinase suppressor of RAS 2	KSR2	283455	ENSG00000171435			Ksr2 (MGI:3610315)
chr12	118016703	118041448	12q24.2-q24.3	12q24.23	600407	RFC5	Replication factor C5, 36.5kD (activator 1, 36.5kD)	RFC5	5985	ENSG00000111445			Rfc5 (MGI:1919401)
chr12	118136124	118145584	12q24.23	12q24.23	604591	PEBP1, PBP, RKIP	Phosphatidylethanolamine-binding protein 1	PEBP1	5037	ENSG00000089220			Pbp2,Pebp1 (MGI:1344408,MGI:1923650)
chr12	118149801	118372907	12q24.23	12q24.23	616711	TAOK3, JIK, DPK	TAO kinase 3	TAOK3	51347	ENSG00000135090			Taok3 (MGI:3041177)
chr12	118376555	118418033	12q24.23	12q24.23	608250	SUDS3, SDS3, SAP45	SDS3 homolog, SIN3A corepressor complex component	SUDS3	64426	ENSG00000111707			Suds3 (MGI:1919204)
chr12	118981541	119163051	12q24.23	12q24.23	613103	SRRM4, KIAA1853, NSR100	Serine/arginine repetitive matrix protein 4	SRRM4	84530	ENSG00000139767			Srrm4 (MGI:1916205)
chr12	119178931	119194746	12q24	12q24.23	608014	HSPB8, H11, E2IG1, CMT2L, HMND2, MFM13	Heat-shock 22-kD protein 8	HSPB8	26353	ENSG00000152137		Neuronopathy, distal hereditary motor, autosomal dominant 2, 158590 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3), Autosomal dominant; Myopathy, myofibrillar, 13, with rimmed vacuoles, 621078 (3), Autosomal dominant	Hspb8 (MGI:2135756)
chr12	119593774	119654295	12q24.23	12q24.23	618296	TMEM233, DSPB2	Transmembrane protein 233	TMEM233	387890	ENSG00000224982			Tmem233 (MGI:3651514)
chr12	119667952	119681619	12q24.1	12q24.23	602740	PRKAB1	Protein kinase, AMP-activated, noncatalytic, beta-1	PRKAB1	5564	ENSG00000111725			Prkab1 (MGI:1336167)
chr12	119685791	119877320	12q24.1-q24.3	12q24.23	605629	CIT, STK21, CRIK, MCPH17	Citron rho-interacting serine/threonine kinase	CIT	11113	ENSG00000122966		Microcephaly 17, primary, autosomal recessive, 617090 (3), Autosomal recessive	Cit (MGI:105313)
chr12	119989236	120094495	12q24.23	12q24.23	617002	BICDL1, BICDR1, CCDC64	BICD family-like cargo adaptor 1	BICDL1	92558	ENSG00000135127			Bicdl1 (MGI:1922915)
chr12	120095099	120116753	12q24.23	12q24.23	604199	RAB35	Ras-associated protein Rab35	RAB35	11021	ENSG00000111737			Rab35 (MGI:1924657)
chr12	120127202	120194715	12q24.2	12q24.23	605614	GCN1, GCN1L1	GCN1 activator of EIF2AK4	GCN1	10985	ENSG00000089154			Gcn1 (MGI:2444248)
chr12	120196699	120201111	12q24.23	12q24.23	180510	RPLP0	Ribosomal protein lateral stalk subunit P0	RPLP0	6175	ENSG00000089157			Rplp0 (MGI:1927636)
chr12	120210447	120265730	12q24	12q24.23	602505	PXN	Paxillin	PXN	5829	ENSG00000089159			Pxn (MGI:108295)
chr12	120291759	120291903	12q24.23	12q24.23	620823	RNU4-2, NEDHAFA, RENU	RNA, U4 small nuclear 2	RNU4-2	26834	ENSG00000202538		ReNU syndrome, 620851 (3), Autosomal dominant	
chr12	120291780	120313249	12q24.31	12q24.23-q24.31	604482	SIRT4, SIR2L4	Sirtuin 4	SIRT4	23409	ENSG00000089163			Sirt4 (MGI:1922637)
chr12	120293094	120293237	12q24.23	12q24.23	620822	RNU4-1	RNA, U4 small nuclear 1	RNU4-1	26835	ENSG00000200795			
chr12	120300001	125400000	12q24.31		612573	MPVQTL1	Mean platelet volume quantitative trait locus 1		100271867		associated with rs7961894	[Mean platelet volume QTL1], 612573 (2)	
chr12	120322115	120327779	12q23-q24.1	12q24.31	172410	PLA2G1B, PLA2A, PLA2, PPLA2	Phospholipase A2, group IB, pancreas	PLA2G1B	5319	ENSG00000170890			Pla2g1b (MGI:101842)
chr12	120339662	120369164	12q24.1-q24.31	12q24.31	603328	MSI1	Musashi RNA binding protein 1	MSI1	4440	ENSG00000135097			Msi1 (MGI:107376)
chr12	120438113	120440730	12q24.2	12q24.31	602072	COX6A1, CMTRID	Cytochrome c oxidase, subunit VIa, polypeptide-1	COX6A1	1337	ENSG00000111775	pseudogenes on chr.7 and chr.6	Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3), Autosomal recessive	Cox6a1 (MGI:103099)
chr12	120443964	120446384	12q24.31	12q24.31	614943	TRIAP1, HSPC132	TP53-regulated inhibitor of apoptosis 1	TRIAP1	51499	ENSG00000170855			Triap1 (MGI:1916326)
chr12	120446444	120463749	12q24.31	12q24.31	617210	GATC, COXPD42	Glutamyl-tRNA amidotransferase, subunit C	GATC	283459	ENSG00000257218		Combined oxidative phosphorylation deficiency 42, 618839 (3), Autosomal recessive	Gatc (MGI:1923776)
chr12	120461672	120469748	12q24.31	12q24.31	601943	SRSF9, SFRS9, SRp30c	Splicing factor, serine/arginine-rich, 9	SRSF9	8683	ENSG00000111786			Srsf9 (MGI:104896)
chr12	120469842	120498493	12q24.2	12q24.31	601562	DYNLL1, DNCL1, DLC1, PIN	Dynein, light chain, LC8-type 1	DYNLL1	8655	ENSG00000088986	possible pseudogene on 14q24		Dynll1 (MGI:1861457)
chr12	120490338	120495946	12q24.31	12q24.31	616207	NRAV, DYNLL1AS1	Negative regulator of antiviral response, noncoding	NRAV	100506668	ENSG00000248008	overlaps intron 1 of DYNLL1 in antisense orientation		
chr12	120503279	120529158	12q24.31	12q24.31	616359	COQ5, COQ10D9	Coenzyme Q5, methyltransferasef	COQ5	84274	ENSG00000110871	mutation identified in 1 COQ10D9 family	?Coenzyme Q10 deficiency, primary, 9, 619028 (3), Autosomal recessive	Coq5 (MGI:1098643)
chr12	120534356	120577588	12q24.31	12q24.31	615998	RNF10, KIAA0262	RING finger protein 10	RNF10	9921	ENSG00000022840			Rnf10 (MGI:1859162)
chr12	120578764	120581402	12q24.31	12q24.31	609992	POP5, HSPC004	Processing of precursor 5, S. cerevisiae, homolog of	POP5	51367	ENSG00000167272			Pop5 (MGI:2151221)
chr12	120640626	120680866	12q24.31	12q24.31	605563	CABP1, CALBRAIN	Calcium-binding protein 1	CABP1	9478	ENSG00000157782			Cabp1 (MGI:1352750)
chr12	120687149	120701859	12q24.31	12q24.31	613802	MLEC, KIAA0152	Malectin	MLEC	9761	ENSG00000110917			Mlec (MGI:1924015)
chr12	120710458	120723640	12q24.31	12q24.31	620513	UNC119B	UNC119 lipid-binding chaperone B	UNC119B	84747	ENSG00000175970			Unc119b (MGI:2147162)
chr12	120725826	120740008	12q22-qter	12q24.31	606885	ACADS, SCAD	Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain	ACADS	35	ENSG00000122971		Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3), Autosomal recessive	Acads (MGI:87868)
chr12	120762510	120904358	12q24.31	12q24.31	608240	SPPL3, IMP2	Signal peptide peptidase-like 3	SPPL3	121665	ENSG00000157837			Sppl3 (MGI:1891433)
chr12	120978543	121002512	12q24.2	12q24.31	142410	HNF1A, TCF1, MODY3, IDDM20	HNF1 homeobox B	HNF1A	6927	ENSG00000135100		Hepatic adenoma, somatic, 142330 (3); Diabetes mellitus, insulin-dependent, 20, 612520 (3); {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3), Autosomal dominant; MODY, type III, 600496 (3), Autosomal dominant; {Diabetes mellitus, insulin-dependent}, 222100 (3), Autosomal recessive; Renal cell carcinoma, 144700 (3)	Hnf1a (MGI:98504)
chr12	121017761	121039246	12q24.2	12q24.31	603281	OASL, TRIP14	2',5'-oligoadenylate synthetase-like	OASL	8638	ENSG00000135114			Oasl1 (MGI:2180849)
chr12	121132876	121188032	12q24	12q24.31	602566	P2RX7, P2X7	Purinergic receptor P2X, ligand-gated ion channel, 7	P2RX7	5027	ENSG00000089041			P2rx7 (MGI:1339957)
chr12	121210129	121234106	12q24.32	12q24.31	600846	P2RX4, P2X4	Purinergic receptor P2X, ligand-gated ion channel, 4	P2RX4	5025	ENSG00000135124			P2rx4 (MGI:1338859)
chr12	121237692	121297819	12q24.2	12q24.31	615002	CAMKK2, KIAA0787, CAMKKB	Calcium/calmodulin-dependent protein kinase kinase 2, beta	CAMKK2	10645	ENSG00000110931			Camkk2 (MGI:2444812)
chr12	121308245	121354209	Chr.12	12q24.31	606948	ANAPC5, APC5	Anaphase-promoting complex, subunit 5	ANAPC5	51433	ENSG00000089053			Anapc5 (MGI:1929722)
chr12	121400118	121424348	12q23-q24.1	12q24.31	608299	RNF34, RFI	RING finger protein 34	RNF34	80196	ENSG00000170633			Rnf34 (MGI:2153340)
chr12	121408461	121582279	12q24.31	12q24.31	609078	KDM2B, FBXL10, FBL10, CXXC2, JHDM1B	Lysine demethylase 2B	KDM2B	84678	ENSG00000089094			Kdm2b (MGI:1354737)
chr12	121626530	121643109	12q24	12q24.31	610277	ORAI1, TMEM142A, CRACM1, IMD9, TAM2	ORAI calcium release-activated calcium modulator 1	ORAI1	84876	ENSG00000276045		Immunodeficiency 9, 612782 (3), Autosomal recessive; Myopathy, tubular aggregate, 2, 615883 (3), Autosomal dominant	Orai1 (MGI:1925542)
chr12	121712752	121782068	12q24.31	12q24.31	616551	TMEM120B	Transmembrane protein 120B	TMEM120B	144404	ENSG00000188735			Tmem120b (MGI:3603158)
chr12	121777754	121793688	12q24.31	12q24.31	618867	RHOF, RIF	RAS homolog gene family, member F, filopodia-associated	RHOF	54509	ENSG00000139725			Rhof (MGI:1345629)
chr12	121790155	121832656	12q24.31	12q24.31	611055	SETD1B, SET1B, KIAA1076, IDDSELD	SET domain-containing protein 1B	SETD1B	23067	ENSG00000139718		Intellectual developmental disorder with seizures and language delay, 619000 (3), Autosomal dominant	Setd1b (MGI:2652820)
chr12	121839527	121888611	12q24-qter	12q24.31	609695	HPD	4-hydroxyphenylpyruvate dioxygenase	HPD	3242	ENSG00000158104		Hawkinsinuria, 140350 (3), Autosomal dominant; Tyrosinemia, type III, 276710 (3), Autosomal recessive	Hpd (MGI:96213)
chr12	121888790	121918297	12q24.2-q24.3	12q24.31	603146	PSMD9	Proteasome 26S subunit, non-ATPase, 9	PSMD9	5715	ENSG00000110801			Psmd9 (MGI:1914401)
chr12	121918592	122003919	12q24.31	12q24.31	618146	WDR66, CFAP251, SPGF33	WD repeat-containing protein 66	CFAP251	144406	ENSG00000158023		Spermatogenic failure 33, 618152 (3), Autosomal recessive	Cfap251 (MGI:1918495)
chr12	122021884	122062044	12q24.1	12q24.31	601406	BCL7A, BCL7	BAF chromatin remodeling complex subunit BCL7A	BCL7A	605	ENSG00000110987			Bcl7a (MGI:1924295)
chr12	122078756	122147344	12q21.31	12q24.31	608090	MLXIP, MONDOA, KIAA0867	MLX-interacting protein	MLXIP	22877	ENSG00000175727			Mlxip (MGI:2141183)
chr12	122172029	122174221	12q24.31	12q24.31	609509	IL31	Interleukin 31	IL31	386653	ENSG00000204671			Il31 (MGI:1923649)
chr12	122203709	122208952	12q24.31	12q24.31	605864	B3GNT4	Beta-1,3-N-acetylglucosaminyltransferase 4	B3GNT4	79369	ENSG00000176383			B3gnt4 (MGI:2680208)
chr12	122207662	122227456	12q24.31	12q24.31	605219	DIABLO, SMAC, DFNA64	Diablo IAP-binding mitochondrial protein	DIABLO	56616	ENSG00000184047		Deafness, autosomal dominant 64, 614152 (3), Autosomal dominant	Diablo (MGI:1913843)
chr12	122229564	122266494	12q24.31	12q24.31	610034	VPS33A, MPSPS	VPS33A core subunit of CORVET and HOPS complexes	VPS33A	65082	ENSG00000139719		Mucopolysaccharidosis-plus syndrome, 617303 (3), Autosomal recessive	Vps33a (MGI:1924823)
chr12	122271469	122422956	12q24.3	12q24.31	179838	CLIP1, RSN, CYLN1, CLIP170	CAP-GLY domain containing linker protein 1	CLIP1	6249	ENSG00000130779			Clip1 (MGI:1928401)
chr12	122471600	122500932	12q24.31	12q24.31	616381	ZCCHC8, PFBMFT5	Zinc finger CCHC domain-containing protein 8	ZCCHC8	55596	ENSG00000033030	mutation identified in 1 PFBMFT5 family	?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5, 618674 (3), Autosomal dominant	Zcchc8 (MGI:1917900)
chr12	122503454	122526936	12q24.31	12q24.31	619996	RSRC2	Arginine- and serine-rich coiled-coil protein 2	RSRC2	65117	ENSG00000111011			Rsrc2 (MGI:1913489)
chr12	122527249	122626396	12q24.31	12q24.31	607363	KNTC1, ROD, KIAA0166	Kinetochore-associated protein 1	KNTC1	9735	ENSG00000184445	previously assigned to chr.17		Kntc1 (MGI:2673709)
chr12	122701293	122703357	12q24.31	12q24.31	609163	HCAR2, GPR109A, HM74A	Hydroxycarboxylic acid receptor 2	HCAR2	338442	ENSG00000182782			Hcar2 (MGI:1933383)
chr12	122714756	122716811	12q24.31	12q24.31	606039	HCAR3, GPR109B, HM74, PUMAG	Hydroxycarboxylic acid receptor 3	HCAR3	8843	ENSG00000255398			Hcar2 (MGI:1933383)
chr12	122726076	122730844	12q24.31	12q24.31	606923	HCAR1, GPR81, TAGPCR	Hydroxycarboxylic acid receptor 1	HCAR1	27198	ENSG00000196917			Hcar1 (MGI:2441671)
chr12	122752824	122771064	12q24.31	12q24.31	604550	DENR, DRP	Density-regulated protein	DENR	8562	ENSG00000139726			Denr (MGI:1915434)
chr12	122774572	122827528	12q24.31	12q24.31	613481	CCDC62, ERAP75, SPGF67	Coiled-coil domain-containing protein 62	CCDC62	84660	ENSG00000130783	mutation identified in 1 SPGF67 patient	?Spermatogenic failure 67, 619803 (3), Autosomal recessive	Ccdc62 (MGI:2684996)
chr12	122834748	122862961	12q24.2-q24.3	12q24.31	605613	HIP1R, HIP12	Huntingtin-interacting protein 1-related protein	HIP1R	9026	ENSG00000130787			Hip1r (MGI:1352504)
chr12	122865330	122896124	12q24.31	12q24.31	610037	VPS37B	VPS37B subunit of ESCRT-I	VPS37B	79720	ENSG00000139722			Vps37b (MGI:1916724)
chr12	122918610	122975114	12q24	12q24.31	605453	ABCB9	ATP-binding cassette, subfamily B, member 9	ABCB9	23457	ENSG00000150967			Abcb9 (MGI:1861729)
chr12	122980233	122982909	12q24.31	12q24.31	607668	ARL6IP4	ADP ribosylation factor-like GTPase 6 interacting protein 4	ARL6IP4	51329	ENSG00000182196			Arl6ip4 (MGI:1929500)
chr12	122983480	123151848	12q24.31	12q24.31	608920	PITPNM2, NIR3, KIAA1457	Phosphatidylinositol transfer protein, membrane-associated, 2	PITPNM2	57605	ENSG00000090975			Pitpnm2 (MGI:1336192)
chr12	123232914	123257960	12q24.31	12q24.31	613541	MTRFR, C12orf65, COXPD7, SPG55	Mitochondrial translation release factor in rescue	MTRFR	91574	ENSG00000130921		Spastic paraplegia 55, autosomal recessive, 615035 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 7, 613559 (3), Autosomal recessive	Mtrfr (MGI:1919900)
chr12	123152324	123244002	Chr.12	12q24.31	605501	MPHOSPH9, MPP9	M-phase phosphoprotein 9	MPHOSPH9	10198	ENSG00000051825			Mphosph9 (MGI:2443138)
chr12	123260976	123272240	12q24.31	12q24.31	602198	CDK2AP1, DOC1	CDK-associated protein 1 (deleted in oral cancer-1)	CDK2AP1	8099	ENSG00000111328			Cdk2ap1,Cdk2ap1rt (MGI:1202069,MGI:3652174)
chr12	123289109	123364847	12q24.31	12q24.31	614274	SBNO1	Strawberry notch, Drosophila, homolog of, 1	SBNO1	55206	ENSG00000139697			Sbno1 (MGI:2384298)
chr12	123384132	123409353	12q24.31	12q24.31	607240	KMT5A, SET8	Lysine methyltransferase 5A	KMT5A	387893	ENSG00000183955			Kmt5a (MGI:1915206)
chr12	123409306	123436684	12q24.31	12q24.31	614093	RILPL2, RLP2	RAB-interacting lysosomal protein-like 2	RILPL2	196383	ENSG00000150977			Rilpl2 (MGI:1933112)
chr12	123458139	123473154	12q24.31	12q24.31	619631	SNRNP35, HM1	Small nuclear ribonucleoprotein U11/U12, subunit 35	SNRNP35	11066	ENSG00000184209			Snrnp35 (MGI:1923417)
chr12	123470054	123533719	12q24.31	12q24.31	614092	RILPL1, RLP1, GOSPEL, OPDM4	RAB-interacting lysosomal protein-like 1	RILPL1	353116	ENSG00000188026		Oculopharyngodistal myopathy 4, 619790 (3), Autosomal dominant	Rilpl1 (MGI:1922945)
chr12	123584552	123598582	12q24.31	12q24.31	619642	TMED2	Transmembrane p24 trafficking protein 2	TMED2	10959	ENSG00000086598			Tmed2 (MGI:1929269)
chr12	123602099	123620943	12q24.31	12q24.31	620176	DDX55, KIAA1695	DEAD-box helicase 55	DDX55	57696	ENSG00000111364			Ddx55 (MGI:1915098)
chr12	123620406	123633686	12q24.31	12q24.31	606686	EIF2B1, EIF2BA, VWM1	Eukaryotic translation initiation factor 2B, subunit 1	EIF2B1	1967	ENSG00000111361		Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, 603896 (3), Autosomal recessive	Eif2b1 (MGI:2384802)
chr12	123633829	123662604	12q24.31	12q24.31	601750	GTF2H3, TFB4	General transcription factor IIH, polypeptide 3	GTF2H3	2967	ENSG00000111358			Gtf2h3 (MGI:1277143)
chr12	123671113	123708399	12q24.31	12q24.31	613846	TCTN2, TECT2, MKS8, JBTS24	Tectonic family, member 2	TCTN2	79867	ENSG00000168778	mutation identified in 1 MKS8 family	Joubert syndrome 24, 616654 (3), Autosomal recessive; ?Meckel syndrome 8, 613885 (3), Autosomal recessive	Tctn2 (MGI:1915228)
chr12	123712353	123761755	12q24.3	12q24.31	611716	ATP6V0A2, WSS, ARCL2A	ATPase, H+ transporting, V0 subunit A2	ATP6V0A2	23545	ENSG00000185344		Wrinkly skin syndrome, 278250 (3), Autosomal recessive; Cutis laxa, autosomal recessive, type IIA, 219200 (3), Autosomal recessive	Atp6v0a2 (MGI:104855)
chr12	123762301	123935720	12q24.31	12q24.31	605884	DNAH10, SPGF56	Dynein, axonemal, heavy chain 10	DNAH10	196385	ENSG00000197653		Spermatogenic failure 56, 619515 (3), Autosomal recessive	Dnah10 (MGI:1860299)
chr12	123973215	124015427	12q24.2	12q24.31	617890	ZNF664, ZFOC1	Zinc finger protein 664	ZNF664	144348	ENSG00000179195			Zfp664 (MGI:2442505)
chr12	124289164	124316024	12q24.31	12q24.31	615927	RFLNA, FAM101A, CFM2	Refilin A	RFLNA	144347	ENSG00000178882			Rflna (MGI:1920371)
chr12	124324415	124567612	12q24	12q24.31	600848	NCOR2, SMRT	Nuclear receptor corepressor 2	NCOR2	9612	ENSG00000196498			Ncor2 (MGI:1337080)
chr12	124776856	124863864	12q24.31	12q24.31	601040	SCARB1, CD36L1, CLA1, HDLQTL6	Scavenger receptor class B, member 1 (CD36 antigen-like 1)	SCARB1	949	ENSG00000073060		[High density lipoprotein cholesterol level QTL6], 610762 (3)	Scarb1 (MGI:893578)
chr12	124911646	124914650	12q24.3	12q24.31	191340	UBC	Ubiquitin C	UBC	7316	ENSG00000150991			Ubc (MGI:98889)
chr12	124946826	124989131	12q24.31	12q24.31	617362	DHX37, KIAA1517, NEDBAVC, SRXY11	DEAH-box helicase 37	DHX37	57647	ENSG00000150990		Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3), Autosomal recessive; 46XY sex reversal 11, 273250 (3), Autosomal dominant	Dhx37 (MGI:3028576)
chr12	124993645	125051167	12q24.31	12q24.31	615627	BRI3BP	BRI3-binding protein	BRI3BP	140707	ENSG00000184992			Bri3bp (MGI:1924059)
chr12	125025443	125027423	12q24.31	12q24.31	615622	THRIL, LINC1992, BRI3BPAS1	TNF- and HNRNPL-related immunoregulatory long noncoding RNA	THRIL	102659353	ENSG00000280634			
chr12	125065435	125143316	12q24.31	12q24.31	614364	AACS, ACSF1	Acetoacetyl-CoA synthetase	AACS	65985	ENSG00000081760			Aacs (MGI:1926144)
chr12	125186386	125662377	12q24.32	12q24.31-q24.32	620260	TMEM132B	Transmembrane protein 132B	TMEM132B	114795	ENSG00000139364			Tmem132b (MGI:3609245)
chr12	128793194	128823958	12q24.32	12q24.33	615806	SLC15A4, PHT1, PTR4	Solute carrier family 15 (oligopeptide transporter), member 4	SLC15A4	121260	ENSG00000139370			Slc15a4 (MGI:2140796)
chr12	129071726	129904025	12q24.3	12q24.33	611257	TMEM132D, KIAA1944, MOLT	Transmembrane protein 132D	TMEM132D	121256	ENSG00000151952			Tmem132d (MGI:3044963)
chr12	130162464	130165740	12q24.33	12q24.33	606147	FZD10	Frizzled class receptor 10	FZD10	11211	ENSG00000111432			Fzd10 (MGI:2136761)
chr12	130337887	130426260	12q24.33	12q24.33	605571	PIWIL1	PIWI-like RNA-mediated gene silencing 1	PIWIL1	9271	ENSG00000125207			Piwil1 (MGI:1928897)
chr12	130396133	130716299	12q24.33	12q24.33	611602	RIMBP2, KIAA0318	RIMS-binding protein 2	RIMBP2	23504	ENSG00000060709			Rimbp2 (MGI:2443235)
chr12	130789600	130839250	12q24.33	12q24.33	132350	STX2, EPIM, STX2C, STX2B, STX2A	Epimorphin (syntaxin 2)	STX2	2054	ENSG00000111450			Stx2 (MGI:108059)
chr12	130872066	130877678	12q24.3	12q24.33	601179	RAN, ARA24	Ras-related nuclear protein	RAN	5901	ENSG00000132341			Ran (MGI:1333112)
chr12	130953907	131141469	12q24.33	12q24.33	613639	ADGRD1, GPR133, PGR25	Adhesion G protein-coupled receptor D1	ADGRD1	283383	ENSG00000111452			Adgrd1 (MGI:3041203)
chr12	131711090	131799738	12q24.33	12q24.33	601945	SFSWAP, SFRS8, SWAP	Splicing factor, suppressor-of-white-apricot family	SFSWAP	6433	ENSG00000061936			Sfswap (MGI:101760)
chr12	131828393	131851771	12q24.33	12q24.33	602285	MMP17	Matrix metalloproteinase 17	MMP17	4326	ENSG00000198598			Mmp17 (MGI:1346076)
chr12	131894622	131923150	12q24.3	12q24.33	603168	ULK1, UNC51	UNC51-like kinase 1	ULK1	8408	ENSG00000177169			Ulk1 (MGI:1270126)
chr12	131929276	131945896	12q24.33	12q24.33	608109	PUS1, MLASA1	Pseudourine synthase 1	PUS1	80324	ENSG00000177192		Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3), Autosomal recessive	Pus1 (MGI:1929237)
chr12	131949942	132080460	12q24.33	12q24.33	606265	EP400, TNRC12, KIAA1498	p400 SWI2/SNF2-related protein	EP400	57634	ENSG00000183495			Ep400 (MGI:1276124)
chr12	132144457	132152468	12q24.33	12q24.33	612819	NOC4L, NOC4	Nucleolar complex-associated protein 4 homolog	NOC4L	79050	ENSG00000184967			Noc4l (MGI:2140843)
chr12	132196372	132329589	12q24.33	12q24.33	606251	GALNT9, GALNACT9	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9	GALNT9	50614	ENSG00000182870	REc		Galnt9 (MGI:2677965)
chr12	132471396	132474587	12q24.3	12q24.33	601932	MUC8	Mucin 8, tracheobronchial	MUC8	100129528				
chr12	132490151	132585188	12q24.33	12q24.33	620123	FBRSL1, KIAA1545	Fibrosin-like 1	FBRSL1	57666	ENSG00000112787			Fbrsl1 (MGI:1920907)
chr12	132618776	132622388	12q24.33	12q24.33	600844	P2RX2, P2X2, DFNA41	Purinergic receptor P2X, ligand-gated ion channel, 2	P2RX2	22953	ENSG00000187848		Deafness, autosomal dominant 41, 608224 (3), Autosomal dominant	P2rx2 (MGI:2665170)
chr12	132623762	132687342	12q24.3	12q24.33	174762	POLE, CRCS12, FILS, IMAGEI	Polymerase, DNA, epsilon	POLE	5426	ENSG00000177084		{Colorectal cancer, susceptibility to, 12}, 615083 (3), Autosomal dominant; FILS syndrome, 615139 (3), Autosomal recessive; IMAGE-I syndrome, 618336 (3), Autosomal recessive	Pole (MGI:1196391)
chr12	132687587	132704985	12q24.33	12q24.33	617399	PXMP2	Peroxisomal membrane protein 2	PXMP2	5827	ENSG00000176894			Pxmp2 (MGI:107487)
chr12	132710842	132722734	12q24.33	12q24.33	614939	PGAM5	Phosphogycerate mutase family, member 5	PGAM5	192111	ENSG00000247077			Pgam5 (MGI:1919792)
chr12	132725503	132761832	12q24.33	12q24.33	616062	ANKLE2, LEM4, KIAA0692, MCPH16	Ankyrin repeat- and LEM domain-containing protein 2	ANKLE2	23141	ENSG00000176915		Microcephaly 16, primary, autosomal recessive, 616681 (3), Autosomal recessive	Ankle2 (MGI:1261856)
chr12	132768914	132829081	12q24.33	12q24.33	602581	GOLGA3	Golgin A3	GOLGA3	2802	ENSG00000090615			Golga3 (MGI:96958)
chr12	132832356	132887618	12q24.33	12q24.33	605209	CHFR	Checkpoint protein with FHA and ring-finger domains	CHFR	55743	ENSG00000072609			Chfr (MGI:2444898)
chr12	132986367	133027102	12q24.33	12q24.33	194537	ZNF26	Zinc finger protein-26 (KOX20)	ZNF26	7574	ENSG00000198393			
chr12	133037509	133063299	12q24.33	12q24.33	618554	ZNF84, HPF2	Zinc finger protein 84	ZNF84	7637	ENSG00000198040			
chr12	133080425	133107428	12q24.32-q24.33	12q24.33	604082	ZNF140	Zinc finger protein-140	ZNF140	7699	ENSG00000196387			
chr12	133130627	133159465	12q13-qter	12q24.33	194538	ZNF10, KOX1	Zinc finger protein-10 (KOX 1)	ZNF10	7556	ENSG00000256223	same 300kb fragment as ZNF26		
chr12	133181495	133214832	12q24.3	12q24.33	604753	ZNF268	Zinc finger protein 268	ZNF268	10795	ENSG00000090612			Zfp268 (MGI:3651014)
chr12	1	133275309	Chr.12		191120	TUBAL1	Tubulin, alpha-like-1						
chr13	1	27200000	13pter-q12.13		610158	FECD2, FCD1	Corneal dystrophy, Fuchs endothelial, 2		100188278		max lod at D13S1304	Corneal dystrophy, Fuchs endothelial, 2, 610158 (2), Autosomal dominant	
chr13	4600001	10100000	13p12		180450	RNR1	Ribosomal RNA-1		6052				
chr13	17700001	114364328	13q		604595	CLQTL1, CLF	Cholesterol level quantitative trait locus 1		54501			[Cholesterol level QTL 1], 604595 (2)	
chr13	18900001	22600000	13q12.11		612312	ADHD6	Attention deficit-hyperactivity disorder, susceptibility to, 6		100190791		max lod at rs1974047	{Attention deficit-hyperactivity disorder, susceptibility to, 6}, 612312 (2)	
chr13	18900001	54700000	13q12-q14		605844	ATOD5	Dermatitis, atopic, 5		117188		max lod at D13S218	{Dermatitis, atopic, susceptibility to, 5}, 605844 (2)	
chr13	18900001	22600000	13q12.11		609384	CFEOM3C, FEOM4	Fibrosis of extraocular muscles, congenital, 3C					Fibrosis of extraocular muscles, congenital, 3C, 609384 (2), Autosomal dominant	
chr13	18900001	31600000	13q12		608557	MCI2	Myocardial infarction, susceptibility to, 2		100233226		defined by 4-SNP haplotype HapA	{Myocardial infarction, susceptibility to, 2}, 608557 (2)	
chr13	19173772	19181824	13q11	13q12.11	602528	TUBA2	Tubulin, alpha 2	TUBA3C	7278	ENSG00000198033			Tuba3a,Tuba3b (MGI:1095406,MGI:1095408)
chr13	19422877	19561574	13q12.11	13q12.11	606791	TPTE2, TPIP	Transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	TPTE2	93492	ENSG00000132958			Tpte (MGI:2446460)
chr13	19633659	19673441	13q12.11	13q12.11	611626	MPHOSPH8, TWA3	M-phase phosphoprotein 8	MPHOSPH8	54737	ENSG00000196199			Mphosph8 (MGI:1922589)
chr13	19671205	19782945	13q12.11	13q12.11	612408	PSPC1, PSP1	Paraspeckle component 1	PSPC1	55269	ENSG00000121390			Pspc1 (MGI:1913895)
chr13	19823482	19863649	13q12.11	13q12.11	616443	ZMYM5, ZNF237, ZNF198L1	Zinc finger, MYM-type 5	ZMYM5	9205	ENSG00000132950			Zmym5 (MGI:3041170)
chr13	19863840	20089115	13q12.11	13q12.11	602221	ZMYM2, ZNF198, RAMP, FIM, NECRC	Zinc finger, MYM-type 2	ZMYM2	7750	ENSG00000121741		Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, 619522 (3), Autosomal dominant	Zmym2 (MGI:1923257)
chr13	20138255	20161565	13q11	13q12.11	121015	GJA3, CX46, CZP3, CAE3, CTRCT14	Gap junction protein, alpha-3, 46kD (connexin 46)	GJA3	2700	ENSG00000121743		Cataract 14, multiple types, 601885 (3), Autosomal dominant	Gja3 (MGI:95714)
chr13	20187470	20192938	13q11-q12	13q12.11	121011	GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS	Gap junction protein, beta-2, 26kD (connexin 26)	GJB2	2706	ENSG00000165474		Keratoderma, palmoplantar, with deafness, 148350 (3), Autosomal dominant; Deafness, autosomal recessive 1A, 220290 (3), Autosomal recessive, Digenic dominant; Deafness, autosomal dominant 3A, 601544 (3), Autosomal dominant; Hystrix-like ichthyosis with deafness, 602540 (3), Autosomal dominant; Bart-Pumphrey syndrome, 149200 (3), Autosomal dominant; Keratitis-ichthyosis-deafness syndrome, 148210 (3), Autosomal dominant; Vohwinkel syndrome, 124500 (3), Autosomal dominant	Gjb2 (MGI:95720)
chr13	20221962	20232319	13q12	13q12.11	604418	GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2	Gap junction protein, beta-6 (connexin-30)	GJB6	10804	ENSG00000121742		Ectodermal dysplasia 2, Clouston type, 129500 (3), Autosomal dominant; Deafness, autosomal dominant 3B, 612643 (3), Autosomal dominant; Deafness, autosomal recessive 1B, 612645 (3), Autosomal recessive; Deafness, digenic GJB2/GJB6, 220290 (3), Autosomal recessive, Digenic dominant	Gjb6 (MGI:107588)
chr13	20403669	20525857	13q12.11	13q12.11	609877	CRYL1	Crystallin, lambda-1	CRYL1	51084	ENSG00000165475			Cryl1 (MGI:1915881)
chr13	20567157	20691444	13q12.1	13q12.11	600595	IFT88, D13S1056E, TG737	Intraflagellar transport 88	IFT88	8100	ENSG00000032742			Ift88 (MGI:98715)
chr13	20701513	20723098	13q12.11	13q12.11	607587	IL17D	Interleukin 17D	IL17D	53342	ENSG00000172458	?associated with Hodgkin lymphoma		Il17d (MGI:2446510)
chr13	20728731	20773961	13q12.11	13q12.11	617793	EEF1AKMT1, N6AMT2	EEF1A lysine methyltransferase 1	EEF1AKMT1	221143	ENSG00000150456			Eef1akmt1 (MGI:1915293)
chr13	20777329	20902774	13q12.11	13q12.11	611449	XPO4, KIAA1721	Exportin 4	XPO4	64328	ENSG00000132953			Xpo4 (MGI:1888526)
chr13	20973036	21061586	13q11-q12	13q12.11	604861	LATS2	Large tumor suppressor kinase 2	LATS2	26524	ENSG00000150457			Lats2 (MGI:1354386)
chr13	21140119	21149097	13q12.11	13q12.11	602949	SAP18	Sin3-associated polypeptide, 18kD	SAP18	10284	ENSG00000150459			Sap18,Sap18b (MGI:1277978,MGI:3704317)
chr13	21153595	21176552	13q12.11	13q12.11	619247	SKA3, C13orf3	Spindle- and kinetochore-associated complex, subunit 3	SKA3	221150	ENSG00000165480			Ska3 (MGI:3041235)
chr13	21176658	21179084	13q12.11	13q12.11	611997	MRP63	Mitochondrial ribosomal protein 63	MRPL57	78988	ENSG00000173141	10 pseudogenes		Mrpl57 (MGI:1915090)
chr13	21372571	21459303	13q12.11	13q12.11	617972	ZDHHC20, DHHC20	Zinc finger DHHC domain-containing protein 20	ZDHHC20	253832	ENSG00000180776			Zdhhc20 (MGI:1923215)
chr13	21492691	21604170	13q12.11	13q12.11	610632	MICU2, EFHA1	Mitochondrial calcium uptake protein 2	MICU2	221154	ENSG00000165487			Micu2 (MGI:1915764)
chr13	21671073	21704498	13q11-q12	13q12.11	600921	FGF9, SYNS3	Fibroblast growth factor-9 (glia-activating factor)	FGF9	2254	ENSG00000102678		Multiple synostoses syndrome 3, 612961 (3), Autosomal dominant	Fgf9 (MGI:104723)
chr13	22600001	24900000	13q12.12		614166	MYP20	Myopia 20, autosomal dominant		100682326		associated with rs9318086	Myopia 20, autosomal dominant, 614166 (2)	
chr13	23160508	23325162	13q12	13q12.12	608896	SGCG, LGMDR5, DMDA1, SCG3	Sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)	SGCG	6445	ENSG00000102683		Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3), Autosomal recessive	Sgcg (MGI:1346524)
chr13	23328830	23433702	13q12	13q12.12	604490	SACS, ARSACS	Sacsin	SACS	26278	ENSG00000151835		Spastic ataxia, Charlevoix-Saguenay type, 270550 (3), Autosomal recessive	Sacs (MGI:1354724)
chr13	23570412	23676093	13q12.11-q12.3	13q12.12	606122	TAJ, TROY	Toxicity and JNK inducer	TNFRSF19	55504	ENSG00000127863			Tnfrsf19 (MGI:1352474)
chr13	23730189	23889400	13q12	13q12.12	602241	MIPEP, COXPD31	Mitochondrial intermediate peptidase	MIPEP	4285	ENSG00000027001		Combined oxidative phosphorylation deficiency 31, 617228 (3), Autosomal recessive	Mipep (MGI:1917728)
chr13	23888868	23892103	13q12.12	13q12.12	617122	C1QTNF9BAS1, PCOTH	C1QTNF9B antisense RNA 1	PCOTH	542767	ENSG00000205861			
chr13	23891099	23897502	13q12.12	13q12.12	614148	C1QTNF9B, CTRP9B	C1q- and tumor necrosis factor-related protein 9B	C1QTNF9B	387911	ENSG00000205863			C1qtnf9 (MGI:3045252)
chr13	23979802	24307069	13q12.12	13q12.12	613324	SPATA13, ASEF2	Spermatogenesis-associated protein 13	SPATA13	221178	ENSG00000182957			Spata13 (MGI:104838)
chr13	24307166	24322531	13q12.12	13q12.12	614285	C1QTNF9A, CTRP9, C1QTNF9	C1q- and tumor necrosis factor-related protein 9A	C1QTNF9	338872	ENSG00000240654			C1qtnf9 (MGI:3045252)
chr13	24420931	24512778	13q11	13q12.12	607519	PARP4, ADPRTL1, VPARP, KIAA0177	Poly(ADP-ribose) polymerase 4	PARP4	143	ENSG00000102699			Parp4 (MGI:2685589)
chr13	24680408	24712472	13q12.1-q12.3	13q12.12	182360	ATP12A, ATP1AL1	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	ATP12A	479	ENSG00000075673			Atp12a (MGI:1926943)
chr13	24747767	24888581	13q12.1	13q12.12	605793	RNF17	RING finger protein-17	RNF17	56163	ENSG00000132972			Rnf17 (MGI:1353419)
chr13	24882279	24934000	13q12.2	13q12.12-q12.13	609279	CENPJ, CPAP, MCPH6, SCKL4	Centromeric protein J	CPAP	55835	ENSG00000151849	mutation identified in 1 SCKL4 family	Microcephaly 6, primary, autosomal recessive, 608393 (3), Autosomal recessive; ?Seckel syndrome 4, 613676 (3), Autosomal recessive	Cpap (MGI:2684927)
chr13	25096136	25099254	13q12.13	13q12.13	604680	PABPC3, PABP3, PABPL3	Polyadenylate-binding protein, cytoplasmic, 3	PABPC3	5042	ENSG00000151846			Pabpc1 (MGI:1349722)
chr13	25161679	25172288	13q12.13	13q12.13	614659	FAM123A, AMER2	Family with sequence similarity 123, member A (APC membrane recruitment protein 2)	AMER2	219287	ENSG00000165566			Amer2 (MGI:1919375)
chr13	25246222	25287488	13q12	13q12.13	603561	MTMR6	Myotubularin-related protein 6	MTMR6	9107	ENSG00000139505			Mtmr6 (MGI:2145637)
chr13	25301625	25349800	13q12.1	13q12.13	607615	NUP58, NUPL1, KIAA0410	Nucleoporin 58kDa	NUP58	9818	ENSG00000139496			Nup58 (MGI:1919094)
chr13	25371974	26025851	13q12	13q12.13	605870	ATP8A2, ATPIB, CAMRQ4	ATPase, class I, type 8A, member 2	ATP8A2	51761	ENSG00000132932		Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4, 615268 (3), Autosomal recessive	Atp8a2 (MGI:1354710)
chr13	26044597	26052016	13q12.13	13q12.13	617324	SHISA2, C13orf13, TMEM46	Shisa family, member 2	SHISA2	387914	ENSG00000180730			Shisa2 (MGI:2444716)
chr13	26132115	26223085	13q12.11	13q12.13	604242	RNF6	RING finger protein-6	RNF6	6049	ENSG00000127870		Esophageal carcinoma, somatic, 133239 (3)	Rnf6 (MGI:1921382)
chr13	26254129	26405238	13q12	13q12.13	603184	CDK8, IDDHBA	Cyclin-dependent kinase 8	CDK8	1024	ENSG00000132964		Intellectual developmental disorder with hypotonia and behavioral abnormalities, 618748 (3), Autosomal dominant	Cdk8 (MGI:1196224)
chr13	26539139	26688948	13q12	13q12.13	605068	WASF3, WAVE3, SCAR3	WAS protein family member 3	WASF3	10810	ENSG00000132970			Wasf3 (MGI:2658986)
chr13	26755200	26760786	13q12	13q12.13	600752	GPR12	G protein-coupled receptor-12	GPR12	2835	ENSG00000132975			Gpr12 (MGI:101909)
chr13	27066156	27171811	13q12.13	13q12.13	603091	USP12, UBH1	Ubiquitin-specific protease 12	USP12	219333	ENSG00000152484			Usp12 (MGI:1270128)
chr13	27200001	39500000	13q12.2-q13		157900	MBS, MBS1	Moebius syndrome		4156			?Moebius syndrome, 157900 (2), Autosomal dominant, Isolated cases	
chr13	27251558	27256568	13q12.2	13q12.2	603636	RPL21, HYPT12	Ribosomal protein L21	RPL21	6144	ENSG00000122026		Hypotrichosis 12, 615885 (3), Autosomal dominant	Rpl21 (MGI:1278340)
chr13	27270830	27275192	13q12.2	13q12.2	612403	RASL11A	RAS-like, family 11, member A	RASL11A	387496	ENSG00000122035			Rasl11a (MGI:1916145)
chr13	27424619	27435823	13q12.3-q13.1	13q12.2	600860	GTF3A, TFIIIA	General transcription factor IIIA	GTF3A	2971	ENSG00000122034			Gtf3a (MGI:1913846)
chr13	27435643	27450564	13q12.2	13q12.2	619554	MTIF3, IF3MT	Mitochondrial translational initiation factor 3	MTIF3	219402	ENSG00000122033			Mtif3 (MGI:1923616)
chr13	27545913	27621107	13q12.2	13q12.2	609733	LNX2, PDZRN1	Ligand of numb protein X2	LNX2	222484	ENSG00000139517			Lnx2 (MGI:2155959)
chr13	27620743	27667411	13q12.2	13q12.2	613715	POLR1D, RPA16, RPAC2, TCS2	Polymerase I, RNA, subunit D	POLR1D	51082	ENSG00000186184		Treacher Collins syndrome 2, 613717 (3), Autosomal recessive, Autosomal dominant	Polr1d (MGI:108403)
chr13	27792483	27794768	13q12.2	13q12.2	616542	GSX1, GSH1	GS homeobox 1	GSX1	219409	ENSG00000169840			Gsx1 (MGI:95842)
chr13	27920000	27926313	13q12.1	13q12.2	600733	PDX1, IPF1, MODY4, PAGEN1	Pancreas/duodenum homeobox protein 1	PDX1	3651	ENSG00000139515		{Diabetes mellitus, type II, susceptibility to}, 125853 (3), Autosomal dominant; Pancreatic agenesis 1, 260370 (3), Autosomal recessive; MODY, type IV, 606392 (3)	Pdx1 (MGI:102851)
chr13	27960918	27969315	13q12.3	13q12.2	600297	CDX2, CDX3	Caudal type homeobox transcription factor 2	CDX2	1045	ENSG00000165556			Cdx2 (MGI:88361)
chr13	27977717	27988693	13q12.2	13q12.2	615804	URAD	Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	URAD	646625	ENSG00000183463			Urad (MGI:3647519)
chr13	28003274	28100576	13q12	13q12.2	136351	FLT3	fms-related tyrosine kinase-3	FLT3	2322	ENSG00000122025		Leukemia, acute lymphoblastic, somatic, 613065 (3); Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3); Leukemia, acute myeloid, somatic, 601626 (3)	Flt3 (MGI:95559)
chr13	28138193	28295335	13q12.2	13q12.2	617448	PAN3	PABP-dependent poly(A) nuclease 3	PAN3	255967	ENSG00000152520			Pan3 (MGI:1919837)
chr13	28300346	28495128	13q12	13q12.3	165070	FLT1	fms-related tyrosine kinase-1 (vascular endothelial growth factor/vascular permeability factor receptor)	FLT1	2321	ENSG00000102755	150kb from FLT3		Flt1 (MGI:95558)
chr13	28659130	28678959	13q12.3	13q12.3	613386	POMP, UMP1, PRAAS2	Proteasome maturation protein	POMP	51371	ENSG00000132963		Proteasome-associated autoinflammatory syndrome 2, 618048 (3), Autosomal dominant; Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3), Autosomal recessive	Pomp (MGI:1913787)
chr13	28700080	28718970	13q12.3	13q12.3	616764	SLC46A3	Solute carrier family 46, member 3	SLC46A3	283537	ENSG00000139508			Slc46a3 (MGI:1918956)
chr13	28819963	29505947	13q12.3	13q12.3	619358	MTUS2, TIP150, CAZIP, KIAA0774	Micortubule-associated scaffold protein 2	MTUS2	23281	ENSG00000132938			Mtus2 (MGI:1915388)
chr13	29509414	29595688	13q12.3	13q12.3	104615	SLC7A1, ATRC1	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	SLC7A1	6541	ENSG00000139514	distal to ATP1AL1		Slc7a1 (MGI:88117)
chr13	29764371	29850617	13q12-q13	13q12.3	604711	UBL3	Ubiquitin-like 3	UBL3	5412	ENSG00000122042			Ubl3 (MGI:1344373)
chr13	30202630	30307551	13q12.3	13q12.3	614764	KATNAL1	Katanin p60 subunit A-like 1	KATNAL1	84056	ENSG00000102781			Katnal1 (MGI:2387638)
chr13	30456704	30617597	13q12	13q12.3	163905	HMGB1, HMG1	High-mobility group box 1 (high-mobility group (nonhistone chromosomal) protein 1)	HMGB1	3146	ENSG00000189403			Hmgb1 (MGI:96113)
chr13	30617920	30660766	13q12.3	13q12.3	617470	USPL1	Ubiquitin-specific peptidase-like 1	USPL1	10208	ENSG00000132952			Uspl1 (MGI:2442342)
chr13	30713485	30764426	13q12	13q12.3	603700	ALOX5AP, FLAP	Arachidonate 5-lipoxygenase-activating protein	ALOX5AP	241	ENSG00000132965		{Stroke, susceptibility to}, 601367 (3), Multifactorial	Alox5ap (MGI:107505)
chr13	31134973	31162388	13q12.3	13q12.3	610703	HSPH1, HSP105, KIAA0201	Heat-shock 105/110kD protein 1	HSPH1	10808	ENSG00000120694			Hsph1 (MGI:105053)
chr13	31199975	31332276	13q12.3	13q12.3	610308	B3GLCT, B3GALTL, B3GTL	Beta 3-glucosyltransferase	B3GLCT	145173	ENSG00000187676		Peters-plus syndrome, 261540 (3), Autosomal recessive	B3glct (MGI:2685903)
chr13	31600001	54700000	13q13-q14.3		600631	ENUR1	Enuresis, nocturnal, 1		2031			Enuresis, nocturnal, 1, 600631 (2), Autosomal dominant	
chr13	31600001	33400000	13q13.1		612089	HPRHP	Hypophosphatemic rickets and hyperparathyroidism		100188880		?due to altered KLOTHO expression	Hypophosphatemic rickets and hyperparathyroidism, 612089 (2), Autosomal dominant	
chr13	31739526	31803389	13q13.1	13q13.1	606655	LGR8, GREAT	Leucine-rich repeat-containing G protein-coupled receptor 8	RXFP2	122042	ENSG00000133105			Rxfp2 (MGI:2153463)
chr13	32031774	32299125	13q13.1	13q13.1	614818	FRY, C13orf14	FRY microtubule-binding protein	FRY	10129	ENSG00000073910			Fry (MGI:2443895)
chr13	32303699	32315363	13q13.1	13q13.1	620424	ZAR1L, ZAR2	Zygote arrest 1-like	ZAR1L	646799	ENSG00000189167			Zar1l (MGI:3690051)
chr13	32315077	32400268	13q12.3	13q13.1	600185	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	BRCA2 DNA repair-associated protein	BRCA2	675	ENSG00000139618		Fanconi anemia, complementation group D1, 605724 (3), Autosomal recessive; {Glioblastoma 3}, 613029 (3), Autosomal recessive; {Medulloblastoma}, 155255 (3), Somatic mutation, Autosomal recessive, Autosomal dominant; {Prostate cancer}, 176807 (3), Somatic mutation, Autosomal dominant; {Breast-ovarian cancer, familial, 2}, 612555 (3), Autosomal dominant; {Breast cancer, male, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; {Pancreatic cancer 2}, 613347 (3); Wilms tumor, 194070 (3), Somatic mutation, Autosomal dominant	Brca2 (MGI:109337)
chr13	32400723	32429615	13q13.1	13q13.1	621053	N4BP2L1	NEDD4-binding protein 2-like 1	N4BP2L1	90634	ENSG00000139597			N4bp2l1 (MGI:2140872)
chr13	32432485	32538868	13q13.1	13q13.1	615788	N4BP2L2, PFAAP5	NEDD4-binding protein 2-like 2	N4BP2L2	10443	ENSG00000244754			N4bp2l2 (MGI:2687207)
chr13	32586452	32778019	13q12.3	13q13.1	605333	PDS5B, AS3, APRIN	PDS5 cohesin-associated factor B	PDS5B	23047	ENSG00000083642			Pds5b (MGI:2140945)
chr13	33016243	33066143	13q12	13q13.1	604824	KL, KLOTHO, HFTC3	Klotho	KL	9365	ENSG00000133116	mutation identified in 1 HFTC3 patient	?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3), Autosomal recessive	Kl (MGI:1101771)
chr13	33103137	33676794	13q12.3	13q13.1-q13.2	609866	STARD13, DLC2	Start domain-containing protein 13	STARD13	90627	ENSG00000133121			Stard13 (MGI:2385331)
chr13	33400001	46700000	13q13.2-q14.1		608049	AUTS3	Autism, susceptibility to, 3		387577			{Autism susceptibility 3}, 608049 (2), Multifactorial, Isolated cases	
chr13	33818149	33977377	13q12.3-q13	13q13.2	600405	RFC3	Replication factor C3, 38kD (activator 1, 38kD)	RFC3	5983	ENSG00000133119			Rfc3 (MGI:1916513)
chr13	34900001	39500000	13q13.3		612796	IBD27	Inflammatory bowel disease 27		100302059			{Inflammatory bowel disease 27}, 612796 (2)	
chr13	34900001	72800000	13q13.3-q21		263450	PAPA5	Polydactyly, postaxial, type A5		101241897		between D13S1288 and D13S632	Polydactyly, postaxial, type A5, 263450 (2), Autosomal recessive	
chr13	34942270	35672736	13q13.2	13q13.3	604889	NBEA, NEDEGE	Neurobeachin	NBEA	26960	ENSG00000172915	site of FRA13A	Neurodevelopmental disorder with or without early-onset generalized epilepsy, 619157 (3), Autosomal dominant	Nbea (MGI:1347075)
chr13	35473789	35476689	13q13	13q13.3	601280	MAB21L1, COFG	mab-21 like 1	MAB21L1	4081	ENSG00000180660		Cerebellar, ocular, craniofacial, and genital syndrome, 618479 (3), Autosomal recessive	Mab21l1 (MGI:1333773)
chr13	35768652	36131939	13q13	13q13.3	604742	DCLK1, DCAMKL1, CLICK1, CL1, KIAA0369	Doublecortin-like kinase 1	DCLK1	9201	ENSG00000133083			Dclk1 (MGI:1330861)
chr13	36168217	36214556	13q13.3	13q13.3	616066	SOHLH2	Spermatogenesis- and oogenesis-specific basic helix-loop-helix protein 2	SOHLH2	54937	ENSG00000120669			Sohlh2 (MGI:1921684)
chr13	36301638	36370180	13q12.3	13q13.3	607111	SPART, KIAA0610, SPG20	Spartin	SPART	23111	ENSG00000133104		Troyer syndrome, 275900 (3), Autosomal recessive	Spart (MGI:2139806)
chr13	36431517	36442870	13q12.3-q13	13q13.3	604036	CCNA1	Cyclin A1	CCNA1	8900	ENSG00000133101			Ccna1 (MGI:108042)
chr13	36819222	36829104	13q14	13q13.3	601861	RFXAP, MHC2D4	Regulatory factor X-associated protein	RFXAP	5994	ENSG00000133111		MHC class II deficiency 4, 620817 (3), Autosomal recessive	Rfxap (MGI:2180854)
chr13	36844831	36920854	13q12-q14	13q13.3	603295	MADH9, SMAD9, MADH6, PPH2	Mothers against decapentaplegic, Drosophila, homolog of, 9	SMAD9	4093	ENSG00000120693		Pulmonary hypertension, primary, 2, 615342 (3), Autosomal dominant	Smad9 (MGI:1859993)
chr13	36949738	36999367	13q13.3	13q13.3	604565	ALG5, PKD7	ALG5 dolichyl-phosphate beta-glucosyltransferase	ALG5	29880	ENSG00000120697		Polycystic kidney disease 7, 620056 (3), Autosomal dominant	Alg5 (MGI:1913498)
chr13	37000786	37009614	13q13.1	13q13.3	606019	EXOSC8, OIP2, RRP43, PCH1C	Exosome component 8	EXOSC8	11340	ENSG00000120699		Pontocerebellar hypoplasia, type 1C, 616081 (3), Autosomal recessive	Exosc8 (MGI:1916889)
chr13	37009312	37059688	13q13.3	13q13.3	613417	FAM48A, P38IP, C13orf19	Family with sequence similarity 48, member A	SUPT20H	55578	ENSG00000102710			Supt20 (MGI:1929651)
chr13	37562585	37598768	13q13.3	13q13.3	608777	POSTN, OSF2, PN	Periostin	POSTN	10631	ENSG00000133110			Postn (MGI:1926321)
chr13	37632063	37869772	13q13.1-q13.2	13q13.3	603651	TRPC4, TRP4	Transient receptor potential cation channel, subfamily C, member 4	TRPC4	7223	ENSG00000133107			Trpc4 (MGI:109525)
chr13	38349851	38363619	13q13.3	13q13.3	610553	UFM1, HLD14	Ubiquitin-fold modifier 1	UFM1	51569	ENSG00000120686		Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive	Ufm1 (MGI:1915140)
chr13	38687077	38887131	13q13.3	13q13.3	608945	FREM2, FRASRS2, CRYPTOP	FRAS1-related extracellular matrix protein 2	FREM2	341640	ENSG00000150893		Fraser syndrome 2, 617666 (3), Autosomal recessive; Cryptophthalmos, unilateral or bilateral, isolated, 123570 (3), Autosomal recessive	Frem2 (MGI:2444465)
chr13	38965925	38990831	13q13	13q13.3	608327	STOML3, SRO	Stomatin-like protein 3	STOML3	161003	ENSG00000133115			Stoml3 (MGI:2388072)
chr13	39009865	39038089	13q13.3	13q13.3	620773	PROSER1	Proline- adn serine-rich protein 1	PROSER1	80209	ENSG00000120685			Proser1 (MGI:1919933)
chr13	39342892	39603193	13q12	13q13.3-q14.11	606710	LHFPL6	LHFPL tetraspan subfamily, member 6	LHFPL6	10186	ENSG00000183722			Lhfpl6 (MGI:1920048)
chr13	39500001	54700000	13q14		606643	BMIQ2	Body mass index quantitative trait locus 2		192149		max lod at D13S257	[Body mass index QTL2], 606643 (2)	
chr13	39500001	54700000	13q14		612110	BMND9	Bone mineral density quantitative trait locus 9		100188882		associated with rs9594759	[Bone mineral density QTL 9], 612110 (2)	
chr13	39500001	54700000	13q14		109543	CLLS2, D13S25, DBM	Leukemia, chronic lymphocytic, susceptibility to, 2		8101		>530kb telomeric to RB1	{Leukemia, chronic lymphocytic, susceptibility to, 2}, 109543 (2), Autosomal dominant	
chr13	39500001	54700000	13q14		613884	DEL13q14, C13DELq14	Chromosome 13q14 deletion syndrome					Chromosome 13q14 deletion syndrome, 613884 (4), Autosomal dominant, Isolated cases	
chr13	39500001	54700000	13q14		109350	GER	Gastroesophageal reflux		59330			Gastroesophageal reflux, 109350 (2), Autosomal dominant	
chr13	39500001	44600000	13q14.11		613407	LPRS6	Leprosy, susceptibility to, 6		100499166		associated with rs9533634 and rs3764147	{Leprosy, susceptibility to, 6}, 613407 (2)	
chr13	39500001	54700000	13q14		601499	RIEG2, RGS2	Rieger syndrome, type 2		6012			Rieger syndrome, type 2, 601499 (2), Autosomal dominant	
chr13	39500001	54700000	13q14		607584	SPG24	Spastic paraplegia 24, autosomal recessive		338090			Spastic paraplegia 24, autosomal recessive, 607584 (2), Autosomal recessive	
chr13	39500001	54700000	13q14		194370	XRS	X-ray sensitivity		8102				
chr13	39655627	39791666	13q13.3	13q14.11	606977	COG6, COD2, KIAA1134, CDG2L, SHNS	Component of oligomeric golgi complex 6	COG6	57511	ENSG00000133103		Shaheen syndrome, 615328 (3), Autosomal recessive; Congenital disorder of glycosylation, type IIl, 614576 (3), Autosomal recessive	Cog6 (MGI:1914792)
chr13	40347132	40481004	13q14.11	13q14.11	619008	LINC00598, TTL	Long intergenic noncoding RNA 598	LINC00598	646982	ENSG00000215483			
chr13	40555667	40666641	13q14.1	13q14.11	136533	FOXO1A, FKHR	Forkhead box O1A (forkhead in rhabdomyosarcoma)	FOXO1	2308	ENSG00000150907	chimeric with PAX3 in t(2;13); fuses with PAX3	Rhabdomyosarcoma, alveolar, 268220 (3), Somatic mutation	Foxo1 (MGI:1890077)
chr13	40729128	40771190	13q13.3	13q14.11	611992	MRPS31	Mitochondrial ribosomal protein S31	MRPS31	10240	ENSG00000102738	4 pseudogenes		Mrps31 (MGI:1913153)
chr13	40789611	40812460	13q14	13q14.11	603861	SLC25A15, ORNT1, HHH	Solute carrier family 25 (mitochondrial carrier), member 15 (ornithine transporter 1)	SLC25A15	10166	ENSG00000102743	with deficiency of factors VII and X in 3 unrelated cases	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3), Autosomal recessive	Slc25a15 (MGI:1342274)
chr13	40931919	41061386	13q14.11	13q14.11	189973	ELF1, RIA1, EFTUD1	E74-like ETS transcription factor 1	ELF1	1997	ENSG00000120690			Elf1 (MGI:107180)
chr13	41061509	41084006	13q14.11	13q14.11	604981	WBP4, FBP21, NEDHFDB	WW domain-containing binding protein 4	WBP4	11193	ENSG00000120688		Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, 620852 (3), Autosomal recessive	Wbp4 (MGI:109568)
chr13	41127569	41132802	13q14.11	13q14.11	617738	KBTBD6	Kelch repeat- and BTB domain-containing protein 6	KBTBD6	89890	ENSG00000165572			Kbtbd6 (MGI:3643058)
chr13	41189834	41194569	13q14.11	13q14.11	617739	KBTBD7	Kelch repeat- and BTB domain-containing protein 7	KBTBD7	84078	ENSG00000120696			Kbtbd7 (MGI:2685141)
chr13	41216369	41312038	13q14.1-q14.3	13q14.11	604601	MTRF1	Translational release factor, mitochondrial, 1	MTRF1	9617	ENSG00000120662			Mtrf1 (MGI:2384815)
chr13	41311267	41377030	13q14.11	13q14.11	619497	NAA16, NARG1L	N-alpha-acetyltransferase 16, NatA auxiliary subunit	NAA16	79612	ENSG00000172766			Naa16 (MGI:1914147)
chr13	41457550	41470871	13q12-q14	13q14.11	610077	RGC32	Response gene to complement 32	RGCC	28984	ENSG00000102760			Rgcc (MGI:1913464)
chr13	41566835	41961109	13q14.11	13q14.11	617509	VWA8, KIAA0564, RP97	von Willebrand factor A domain-containing protein 8	VWA8	23078	ENSG00000102763	mutation identified in 1 RP97 family	?Retinitis pigmentosa 97, 620422 (3), Autosomal dominant	Vwa8 (MGI:1919008)
chr13	42040070	42256584	13q14.11	13q14.11	604071	DGKH	Diacylglycerol kinase, eta, 130kD	DGKH	160851	ENSG00000102780			Dgkh (MGI:2444188)
chr13	42271477	42323261	13q14.11	13q14.11	604696	AKAP11, AKAP220	A-kinase anchor protein 11	AKAP11	11215	ENSG00000023516			Akap11 (MGI:2684060)
chr13	42562736	42608013	13q14	13q14.11	602642	TNFSF11, OPGL, TRANCE, OPTB2	Tumor necrosis factor ligand superfamily, member 11 (osteoprotegerin ligand)	TNFSF11	8600	ENSG00000120659		Osteopetrosis, autosomal recessive 2, 259710 (3), Autosomal recessive	Tnfsf11 (MGI:1100089)
chr13	42886388	42992241	13q13.3	13q14.11	607441	EPSTI1	Epithelial stromal interaction 1	EPSTI1	94240	ENSG00000133106			Epsti1 (MGI:1915168)
chr13	43023586	43114213	13q14.1	13q14.11	615339	DNAJC15, MCJ	DNAJ/HSP40 homolog, subfamily C, member 15	DNAJC15	29103	ENSG00000120675			Dnajc15 (MGI:1913398)
chr13	43213130	43786972	13q14.11	13q14.11	610914	ENOX1, CNOX	ECTO-NOX disulfide-thiol exchanger 1	ENOX1	55068	ENSG00000120658			Enox1 (MGI:2444896)
chr13	43819018	43879740	13q14.11	13q14.11	613408	CCDC122	Coiled-coil domain-containing protein 122	CCDC122	160857	ENSG00000151773			Ccdc122 (MGI:1918358)
chr13	43879178	43893932	13q14.11	13q14.11	613409	LACC1, C13orf31, JUVAR	Laccase (multicopper reductase) domain-containing protein 1	LACC1	144811	ENSG00000179630		Juvenile arthritis, 618795 (3), Autosomal recessive	Lacc1 (MGI:2445077)
chr13	44432143	44577344	13q14	13q14.11	607715	TSC22D1, TSC22	TSC22 domain family, member 1	TSC22D1	8848	ENSG00000102804			Tsc22d1 (MGI:109127)
chr13	44939249	44989471	13q14	13q14.12	604354	NUFIP1, NUFIP	Nuclear FMR1 interacting protein 1	NUFIP1	26747	ENSG00000083635	pseudogene on 6q12		Nufip1 (MGI:1351474)
chr13	45120510	45284893	13q14.12-q14.13	13q14.12-q14.13	189969	GTF2F2, TF2F2, RAP30	General transcription factor IIF, polypeptide 2, 30kD	GTF2F2	2963	ENSG00000188342			Gtf2f2 (MGI:1915955)
chr13	45192853	45201045	13q14.12	13q14.12-q14.13	620638	KCTD4	Potassium channel tetramerization domain-containing protein 4	KCTD4	386618	ENSG00000180332			Kctd4 (MGI:1914766)
chr13	45333471	45341183	13q12-q14	13q14.13	600763	TPT1, HRF	Tumor protein, translationally-controlled 1	TPT1	7178	ENSG00000133112			Tpt1 (MGI:104890)
chr13	45337480	45337609	13q14.13	13q14.13	619378	SNORA31, IIAE10	Small nucleolar RNA, H/ACA box, 31	SNORA31	677814	ENSG00000199477		{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}, 619396 (3), Autosomal dominant	
chr13	45393316	45434016	13q14.11	13q14.13	610793	SLC25A30, KMCP1	Solute carrier family 25 (mitochondrial carrier, kidney), member 30	SLC25A30	253512	ENSG00000174032			Slc25a30 (MGI:1914804)
chr13	45464939	45536701	13q14.12	13q14.13	606975	COG3, SEC34, CDG2BB	Component of oligomeric golgi complex 3	COG3	83548	ENSG00000136152		Congenital disorder of glycosylation, type IIbb, 620546 (3), Autosomal recessive	Cog3 (MGI:2450151)
chr13	45702320	45714559	13q14.13	13q14.13	618614	CBY2, NURIT, SPERT	Chibby family, member 2	CBY2	220082	ENSG00000174015			Cby2 (MGI:1915176)
chr13	45777242	45851753	13q14.12	13q14.13	615609	SIAH3	SIAH E3 ubiquitin protein ligase family, member 3	SIAH3	283514	ENSG00000215475			Siah3 (MGI:2685758)
chr13	45954465	46052746	13q14.13	13q14.13	616453	ZC3H13, KIAA0853	Zinc finger CCCH domain-containing protein 13	ZC3H13	23091	ENSG00000123200			Zc3h13 (MGI:1914552)
chr13	46053186	46105033	13q14.11	13q14.13	603101	CPB2, CPU, TAFI	Carboxypeptidase B2, plasma (carboxypeptidase U)	CPB2	1361	ENSG00000080618			Cpb2 (MGI:1891837)
chr13	46125923	46182177	13q14.1-q14.3	13q14.13	153430	LCP1	Lymphocyte cytosolic protein-1 (plasmin)	LCP1	3936	ENSG00000136167			Lcp1 (MGI:104808)
chr13	46334681	46390042	13q14.13	13q14.13	620175	RUBCNL, PACER	Rubicon-like autophagy enhancer	RUBCNL	80183	ENSG00000102445			Rubcnl (MGI:2685590)
chr13	46553170	46753041	13q14	13q14.13-q14.2	610368	LRCH1, KIAA1016	Leucine-rich repeats and calponin homology domain-containing 1	LRCH1	23143	ENSG00000136141			Lrch1 (MGI:2443390)
chr13	46771256	46797700	13q14.11	13q14.2	133280	ESD	Esterase D; S-formylglutathione hydrolase	ESD	2098	ENSG00000139684	proximal to RB1, WND		Esd,Esd-ps (MGI:3781082,MGI:95421)
chr13	46831546	46898082	13q14-q21	13q14.2	182135	HTR2A	5-hydroxytryptamine (serotonin) receptor-2A	HTR2A	3356	ENSG00000102468		{Major depressive disorder, response to citalopram therapy in}, 608516 (3); {Obsessive-compulsive disorder, susceptibility to}, 164230 (3), Autosomal dominant; {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant	Htr2a (MGI:109521)
chr13	47942656	48001273	13q14.2	13q14.2	603921	SUCLA2, MTDPS5	Succinate-CoA ligase, ADP-forming, beta subunit	SUCLA2	8803	ENSG00000136143		Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3), Autosomal recessive	Sucla2 (MGI:1306775)
chr13	48037726	48052755	13q14.2	13q14.2	615792	NUDT15, MTH2, NUDT15D	Nudix hydrolase 15	NUDT15	55270	ENSG00000136159		{Thiopurines, poor metabolism of, 2}, 616903 (3), Autosomal dominant	Nudt15 (MGI:2443366)
chr13	48075724	48095104	13q14.2	13q14.2	605718	MED4, DRIP36, HSPC126	Mediator of RNA polymerase II transcription, subunit 4, S. cerevisiae, homolog of	MED4	29079	ENSG00000136146			Med4 (MGI:1914631)
chr13	48233206	48270357	13q14	13q14.2	603904	ITM2B, BRI, ABRI, FBD, RDGCA	Integral membrane protein 2B (BRI gene)	ITM2B	9445	ENSG00000136156	mutation identified in 1 RDGCA family	?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3), Autosomal dominant; Dementia, familial British, 176500 (3), Autosomal dominant; Dementia, familial Danish, 117300 (3), Autosomal dominant	Itm2b (MGI:1309517)
chr13	48303751	48481890	13q14.1-q14.2	13q14.2	614041	RB1	Retinoblastoma-1	RB1	5925	ENSG00000139687		Small cell cancer of the lung, somatic, 182280 (3); Bladder cancer, somatic, 109800 (3); Retinoblastoma, trilateral, 180200 (3), Somatic mutation, Autosomal dominant; Osteosarcoma, somatic, 259500 (3); Retinoblastoma, 180200 (3), Somatic mutation, Autosomal dominant	Rb1 (MGI:97874)
chr13	48389571	48444669	13q14.12-q14.2	13q14.2	609239	LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8	Lysophosphatidic acid receptor 6	LPAR6	10161	ENSG00000139679	in intron 17 of RB gene	Hypotrichosis 8, 278150 (3), Autosomal recessive; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3), Autosomal recessive	Lpar6 (MGI:1914418)
chr13	48488963	48535895	13q14.3	13q14.2	603524	RCBTB2, CHC1L	RCC1 domain- and BTB domain-containing protein 2	RCBTB2	1102	ENSG00000136161			Rcbtb2 (MGI:1917200)
chr13	48653929	48711226	13q14	13q14.2	605666	CYSLTR2, CYSLT2	Cysteinyl leukotriene receptor 2	CYSLTR2	57105	ENSG00000152207			Cysltr2 (MGI:1917336)
chr13	48975291	49209779	13q14.2	13q14.2	615794	FNDC3A, KIAA0970, HUGO	Fibronectin type III domain-containing protein 3A	FNDC3A	22862	ENSG00000102531			Fndc3a (MGI:1196463)
chr13	49220338	49222377	13q14-q21	13q14.2	602885	MLNR, GPR38	Motilin receptor	MLNR	2862	ENSG00000102539			
chr13	49247925	49293485	13q14.2	13q14.2	618997	CDADC1	Cytidine and deoxycytidylate deaminase domain-containing protein 1	CDADC1	81602	ENSG00000102543			Cdadc1 (MGI:1919141)
chr13	49308650	49444064	13q14.2	13q14.2	612175	CAB39L	Calcium-binding protein 39-like protein	CAB39L	81617	ENSG00000102547			Cab39l (MGI:1914081)
chr13	49444274	49495003	13q14	13q14.2	607865	SETDB2, CLLD8	SET domain protein, bifurcated, 2	SETDB2	83852	ENSG00000136169			Setdb2 (MGI:2685139)
chr13	49495953	49528976	13q14.1	13q14.2	607796	PHF11, NYREN34	PHD finger protein 11	PHF11	51131	ENSG00000136147			Phf11,Phf11a,Phf11b,Phf11c,Phf11d (MGI:1277133,MGI:1918441,MGI:3644962,MGI:3645789,MGI:3648476)
chr13	49531946	49585558	13q14	13q14.2	607867	RCBTB1, CLLD7, GLP, RDEOA	RCC1 domain- and BTB domain-containing protein 1	RCBTB1	55213	ENSG00000136144		Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive	Rcbtb1 (MGI:1918580)
chr13	49628507	49633872	13q14.3	13q14.2	609351	ARL11, ARLTS1	ADP ribosylation factor-like GTPase 11	ARL11	115761	ENSG00000152213			Arl11 (MGI:2444054)
chr13	49660674	49691487	13q14.2	13q14.2	617335	EBPL	Emopamil-binding protein-like	EBPL	84650	ENSG00000123179			Ebpl (MGI:1915427)
chr13	49699320	49792682	13q14.3	13q14.2	601892	KPNA3, SPG88	Karyopherin (importin) alpha-3	KPNA3	3839	ENSG00000102753		Spastic paraplegia 88, autosomal dominant, 620106 (3), Autosomal dominant	Kpna3 (MGI:1100863)
chr13	49912702	49936340	13q14	13q14.2	607866	CLLD6, C13orf1	Chronic lymphocytic leukemia deletion region gene 6	SPRYD7	57213	ENSG00000123178			Spryd7 (MGI:1913924)
chr13	49982549	50125541	13q14	13q14.2	605766	DLEU2, LEU2, BCMSUN	Deleted in lymphocytic leukemia 2	DLEU2	8847	ENSG00000231607			
chr13	49997042	50018467	13q14.3	13q14.2	605661	TRIM13, RFP2, LEU5	Tripartite motif-containing protein 13	TRIM13	10206	ENSG00000204977			Trim13 (MGI:1913847)
chr13	50015444	50020922	13q14.3	13q14.2	607947	KCNRG, DLTET	Potassium channel regulator	KCNRG	283518	ENSG00000198553			Kcnrg (MGI:2685591)
chr13	50048973	50049061	13q14.3	13q14.2	609704	MIR16-1, MIRN16-1	Micro RNA 16-1	MIR16-1	406950	ENSG00000208006			Mir16-1 (MGI:2676843)
chr13	50049119	50049201	13q14.3	13q14.2	609703	MIR15A, MIRN15A	Micro RNA 15A	MIR15A	406948	ENSG00000283785			Mir15a (MGI:2676841)
chr13	50082169	50528643	13q14	13q14.2-q14.3	605765	DLEU1, LEU1	Deleted in lymphocytic leukemia 1	DLEU1	10301	ENSG00000176124			
chr13	50300001	54700000	13q14.3		612894	STQTL20	Stature quantitative trait locus 20		100302685		associated with rs3118914	{Stature QTL 20}, 612894 (2)	
chr13	50711026	50843939	13q14	13q14.3	618634	DLEU7	Deleted in lymphocytic leukemia 7	DLEU7	220107	ENSG00000186047			Dleu7 (MGI:2447771)
chr13	50909678	50970460	13q14.1	13q14.3	610326	RNASEH2B, DLEU8, FLJ11712, AGS2	Ribonuclease H2, subunit B	RNASEH2B	79621	ENSG00000136104		Aicardi-Goutieres syndrome 2, 610181 (3), Autosomal recessive	Rnaseh2b (MGI:1914403)
chr13	50994511	51066157	13q14.3	13q14.3	603695	GUCY1B2	Guanylate cyclase 1, soluble, beta-2	GUCY1B2	2974	ENSG00000293412			
chr13	51334405	51453036	13q14.3	13q14.3	604331	INTS6, DDX26, DICE1	Integrator complex subunit 6	INTS6	26512	ENSG00000102786			Ints6 (MGI:1202397)
chr13	51339691	51364735	13q14.3	13q14.3	620989	SERPINE3	Serpin family E, member 3	SERPINE3	647174	ENSG00000253309			Serpine3 (MGI:2442020)
chr13	51584462	51767709	13q14.3	13q14.3	610418	WDFY2	WD repeat- and FYVE domain-containing protein 2	WDFY2	115825	ENSG00000139668			Wdfy2 (MGI:2442811)
chr13	51754854	51804163	13q14.3	13q14.3	616163	DHRS12, SDR40C1	Short-chain dehydrogenase reductase family, member 12	DHRS12	79758	ENSG00000102796			
chr13	51907820	51910696	13q14-q21	13q14.3	608857	CTAGE3	Cutaneous T-cell lymphoma-associated antigen 3	CTAGE3P	220112	ENSG00000232872			
chr13	51932669	52012132	13q14.3-q21.1	13q14.3	606882	ATP7B, WND	ATPase, Cu++ transporting, beta polypeptide	ATP7B	540	ENSG00000123191		Wilson disease, 277900 (3), Autosomal recessive	Atp7b (MGI:103297)
chr13	52012398	52033600	13q14.3	13q14.3	613666	ALG11, KIAA1266, CDG1P	ALG11 alpha-1,2-mannosyltransferase	ALG11	440138	ENSG00000253710		Congenital disorder of glycosylation, type Ip, 613661 (3), Autosomal recessive	Alg11 (MGI:2142632)
chr13	52024691	52033600	13q14.3	13q14.3	608969	UTP14C, UTP14B, KIAA0266	UTP14C small subunit processome component	UTP14C	9724	ENSG00000253797	pseudogene on chr.2		Utp14a,Utp14b (MGI:1919804,MGI:2445092)
chr13	52033611	52129073	13q14.3	13q14.3	616731	NEK5	NIMA-related kinase 5	NEK5	341676	ENSG00000197168			Nek5 (MGI:2142824)
chr13	52132647	52159860	13q14.2	13q14.3	604044	NEK3	Never in mitosis gene A-related kinase 3	NEK3	4752	ENSG00000136098			Nek3 (MGI:1344371)
chr13	52377167	52406172	13q14.3	13q14.3	616821	THSD1, TMTSP, ANIB12, LMPHM13	Thrombospondin type 1 domain-containing protein 1	THSD1	55901	ENSG00000136114	mutation identified in 1 ANIB12 family	?Aneurysm, intracranial berry, 12, 618734 (3), Autosomal dominant; Lymphatic malformation 13, 620244 (3), Autosomal recessive	Thsd1 (MGI:1929096)
chr13	52412606	52450634	13q14.3	13q14.3	610903	VPS36, EAP45	Vacuolar protein sorting 36 homolog	VPS36	51028	ENSG00000136100			Vps36 (MGI:1917410)
chr13	52455478	52476627	13q14	13q14.3	611569	CKAP2, TMAP, LB1	Cytoskeleton-associated protein 2	CKAP2	26586	ENSG00000136108			Ckap2 (MGI:1931797)
chr13	52652836	52700909	13q14.3	13q14.3	604098	SUGT1, SGT1	SGT1 homolog, MIS12 kinetochore complex assembly cochaperone	SUGT1	10910	ENSG00000165416			Sugt1 (MGI:1915205)
chr13	52703264	52739820	13q14-q21	13q14.3	605147	LECT1, CHM1	Leukocyte cell derived chemotaxin 1 (chondromodulin)	CNMD	11061	ENSG00000136110			Cnmd (MGI:1341171)
chr13	52842889	52848640	13q14.3	13q14.3	603580	PCDH8	Protocadherin 8	PCDH8	5100	ENSG00000136099			Pcdh8 (MGI:1306800)
chr13	53028813	53052057	13q14.3	13q14.3	614061	OLFM4, GC1, GW112	Olfactomedin 4	OLFM4	10562	ENSG00000102837			Olfm4 (MGI:2685142)
chr13	54700001	72800000	13q21		613289	ATXN8	Ataxin 8	ATXN8	724066		CAG repeat results in polyglutamine expansion protein	Spinocerebellar ataxia 8, 608768 (3), Autosomal dominant	
chr13	54700001	101100000	13q21-q32		602085	PAPA2	Postaxial polydactyly, type A2		8103			Postaxial polydactyly, type A2, 602085 (2), Autosomal dominant	
chr13	54700001	72800000	13q21		607134	SLI3	Specific language impairment QTL, 3		780906		max with D13S1317	Specific language impairment QTL, 3, 607134 (2), Multifactorial	
chr13	57630108	57729311	13q21.1	13q21.1	611760	PCDH17, PCDH68	Protocadherin 17	PCDH17	27253	ENSG00000118946			Pcdh17 (MGI:2684924)
chr13	59665583	60163928	13q21.2	13q21.2	614567	DIAPH3, DIA2, DRF3, AUNA1, NSDAN	Diaphanous-related formin 3	DIAPH3	81624	ENSG00000139734		Auditory neuropathy, autosomal dominant 1, 609129 (3), Autosomal dominant	Diaph3 (MGI:1927222)
chr13	60395533	60573879	13q21.2	13q21.2	614392	TDRD3	Tudor domain-containing protein 3	TDRD3	81550	ENSG00000083544			Tdrd3 (MGI:2444023)
chr13	61409685	61415849	13q21.2	13q21.2	614449	PCDH20, PCDH13	Protocadherin 20	PCDH20	64881	ENSG00000280165			Pcdh20 (MGI:2443376)
chr13	66302834	67230336	13q21.1	13q21.32	603581	PCDH9	Protocadherin 9	PCDH9	5101	ENSG00000184226			Pcdh9 (MGI:1306801)
chr13	69700597	70108452	13q21	13q21.33	605332	KLHL1	Kelch-like 1	KLHL1	57626	ENSG00000150361			Klhl1 (MGI:2136335)
chr13	70107421	70171738	13q21	13q21.33	603680	ATXN8OS, SCA8, KLHL1AS	Ataxin 8 opposite strand	ATXN8OS	6315	ENSG00000230223	due to CTG repeat in untranslated DNA	{Parkinson disease, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant; Spinocerebellar ataxia 8, 608768 (3), Autosomal dominant	
chr13	71437966	71867204	13q22	13q21.33	603803	DACH1	Dachshund family transcription factor 1	DACH1	1602	ENSG00000276644			Dach1 (MGI:1277991)
chr13	72708367	72727629	13q21.33-q22.1	13q21.33	613448	C13orf37, MOZART1	Mitotic spindle-organizing protein associated with a ring of gamma-tubulin	MZT1	440145	ENSG00000204899			Mzt1 (MGI:1924039)
chr13	72727923	72756196	13q22.1	13q21.33	610510	BORA, C13orf34	Aurora borealis	BORA	79866	ENSG00000136122			Bora (MGI:1924994)
chr13	72752169	72781900	13q21-q22	13q21.33	607533	DIS3, KIAA1008	DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease	DIS3	22894	ENSG00000083520			Dis3 (MGI:1919912)
chr13	72782133	73016461	13q21-q22	13q21.33-q22.1	607532	PIBF1, JBTS33	Progesterone-induced blocking factor 1	PIBF1	10464	ENSG00000083535		Joubert syndrome 33, 617767 (3), Autosomal recessive	Pibf1 (MGI:1261910)
chr13	72800001	78500000	13q22		142700	DDH1	Developmental dysplasia of the hip 1		780896			Developmental dysplasia of the hip 1, 142700 (2), Multifactorial	
chr13	72800001	101100000	13q22-q32		167870	PAND1	Panic disorder syndrome 1		387572			Panic disorder syndrome 1, 167870 (2), ?Autosomal dominant	
chr13	73054976	73077538	13q21.33	13q22.1	602903	KLF5, BTEB2	Krupple-like factor 5	KLF5	688	ENSG00000102554			Klf5 (MGI:1338056)
chr13	73686089	74306045	13q22	13q22.1	607531	KLF12, AP2REP	Kruppel-like factor 12	KLF12	11278	ENSG00000118922			Klf12 (MGI:1333796)
chr13	75283503	75482169	13q22.2	13q22.2	612465	TBC1D4, AS160, KIAA0603, NIDDM5	TPC1 domain family, member 4	TBC1D4	9882	ENSG00000136111		{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)	Tbc1d4 (MGI:2429660)
chr13	75525214	75549439	13q22	13q22.2	612377	COMMD6	COMM domain-containing protein 6	COMMD6	170622	ENSG00000188243			Commd6 (MGI:1913450)
chr13	75549502	75606020	13q22	13q22.2	603090	UCHL3	Ubiquitin carboxyl-terminal esterase L3	UCHL3	7347	ENSG00000118939			Uchl3,Uchl4 (MGI:1355274,MGI:1890440)
chr13	75620434	75859870	13q21-q22	13q22.2	604362	LMO7, FBXO20, FBX20, KIAA0858	LIM domain only 7	LMO7	4008	ENSG00000136153			Lmo7 (MGI:1353586)
chr13	76700001	78500000	13q22.3		617979	lncRNA-ACOD1, LOC105370268	Long noncoding RNA near ACOD1		105370268				
chr13	76880175	76886405	13q21	13q22.3	610521	KCTD12, PFET1, KIAA1778, C13orf2	Potassium channel tetramerization domain-containing protein 12	KCTD12	115207	ENSG00000178695			Kctd12 (MGI:2145823)
chr13	76928451	76929090	13q22	13q22.3	602543	BTF3P11, BRF3L1	Basic transcription factor 3 pseudogene 11	BTF3P11	690				
chr13	76948511	76958638	13q22.3	13q22.3	615275	ACOD1, IRG1	Aconitate decarboxylase 1	ACOD1	730249	ENSG00000102794			Acod1 (MGI:103206)
chr13	76992081	77005117	13q22.3	13q22.3	608102	CLN5	CLN5 intracellular trafficking protein	CLN5	1203	ENSG00000102805		Ceroid lipofuscinosis, neuronal, 5, 256731 (3), Autosomal recessive	Cln5 (MGI:2442253)
chr13	77005260	77027159	13q22	13q22.3	605653	FBXL3, FBXL3A, FBL3, IDDSFAS	F-box and leucine-rich repeat protein 3	FBXL3	26224	ENSG00000005812		Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 (3), Autosomal recessive	Fbxl3 (MGI:1354702)
chr13	77044657	77327094	13q22	13q22.3	610392	MYCBP2, PAM, KIAA0916	Myc-binding protein 2	MYCBP2	23077	ENSG00000005810			Mycbp2 (MGI:2179432)
chr13	77535706	77645263	13q22	13q22.3	604112	SCEL	Sciellin	SCEL	8796	ENSG00000136155			Scel (MGI:1891228)
chr13	77697687	77764229	13q22.3	13q22.3	610491	SLAIN1	SLAIN motif family, member 1	SLAIN1	122060	ENSG00000139737			Slain1 (MGI:2145578)
chr13	77895487	77975527	13q22	13q22.3	131244	EDNRB, HSCR2, ABCDS, WS4A	Endothelin receptor type B	EDNRB	1910	ENSG00000136160	mutation identified in 1 ABCD family	{Hirschsprung disease, susceptibility to, 2}, 600155 (3), Autosomal dominant; ?ABCD syndrome, 600501 (3), Autosomal recessive; Waardenburg syndrome, type 4A, 277580 (3), Autosomal recessive, Autosomal dominant	Ednrb (MGI:102720)
chr13	78598362	78603552	13q31.1	13q31.1	601632	POU4F1, BRN3A, ATITHS	POU domain, class 4, transcription factor 1	POU4F1	5457	ENSG00000152192		Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, 619352 (3), Autosomal dominant	Pou4f1 (MGI:102525)
chr13	78614289	78659155	13q31.1	13q31.1	615906	OBI1, RNF219, C13orf7	ORC ubiquitin ligase 1	OBI1	79596	ENSG00000152193			Obi1 (MGI:1919736)
chr13	79311827	79406255	13q22.2	13q31.1	620081	RBM26	RNA-binding motif protein 26	RBM26	64062	ENSG00000139746			Rbm26 (MGI:1921463)
chr13	79481155	79556077	13q22.2	13q31.1	610041	NDFIP2, N4WBP5A, KIAA1165	NEDD4 family-interacting protein 2	NDFIP2	54602	ENSG00000102471			Ndfip2 (MGI:1923523)
chr13	80011077	80026663	13q31.1	13q31.1	615230	LNCR13Q1	Long noncoding RNA on 13q (TCONS_00021856)	LINC01080	101515984				
chr13	80335976	80341126	13q31.1	13q31.1	602466	SPRY2, IGAN3	Sprouty RTK signaling antagonist 2	SPRY2	10253	ENSG00000136158	mutation identified in 1 IGAN3 family	{?IgA nephropathy, susceptibility to, 3}, 616818 (3), Autosomal dominant	Spry2 (MGI:1345138)
chr13	83877205	83882474	13q31	13q31.1	609678	SLITRK1, KIAA1910, TTM	SLIT- and NTRK-like family, member 1	SLITRK1	114798	ENSG00000178235	mutation identified in 1 TTM patient	Tourette syndrome, 137580 (3), Autosomal dominant; ?Trichotillomania, 613229 (3), Multifactorial, Autosomal dominant	Slitrk1 (MGI:2679446)
chr13	85792790	85799419	13q31	13q31.1	609681	SLITRK6, DFNMYP	SLIT- and NTRK-like family, member 6	SLITRK6	84189	ENSG00000184564		Deafness and myopia, 221200 (3), Autosomal recessive	Slitrk6 (MGI:2443198)
chr13	87671371	87679616	13q31	13q31.2	609680	SLITRK5, KIAA0918	SLIT- and NTRK-like family, member 5	SLITRK5	26050	ENSG00000165300			Slitrk5 (MGI:2679448)
chr13	89400001	94400000	13q31.3		614326	FGLDS2	Feingold syndrome 2				contiguous gene deletion syndrome	Feingold syndrome 2, 614326 (4), Autosomal dominant	
chr13	89400001	94400000	13q31.3		609572	PPR2	Photoparoxysmal response 2		780910		max lod at D13S1230	Photoparoxysmal response 2, 609572 (2)	
chr13	91347687	91354577	13q31.3	13q31.3	609415	MIR17HG, MIRH1, MIHG1, MIRHG1, C13orf25	Micro RNA 17 host gene	MIR17HG	407975	ENSG00000215417			Mir17hg (MGI:1923207)
chr13	91350605	91350688	13q31.3	13q31.3	609416	MIR17, MIR91, MIRN17	Micro RNA 17	MIR17	406952	ENSG00000284536	within C13orf25; sequence encodes 2 micro RNAs		Mir17 (MGI:3619065)
chr13	91350751	91350821	13q31.3	13q31.3	609417	MIR18A, MIRN18A	Micro RNA 18A	MIR18A	406953	ENSG00000283815	within C13orf25		Mir18 (MGI:2676844)
chr13	91350891	91350972	13q31.3	13q31.3	609418	MIR19A, MIRN19A	Micro RNA 19A	MIR19A	406979	ENSG00000284204	within C13orf25		Mir19a (MGI:3618743)
chr13	91351065	91351135	13q31.3	13q31.3	609420	MIR20A, MIRN20A	Micro RNA 20A	MIR20A	406982	ENSG00000283762	within C13orf25		Mir20a (MGI:2676872)
chr13	91351192	91351278	13q31.3	13q31.3	609419	MIR19B1, MIRN19B1	Micro RNA 19B1	MIR19B1	406980	ENSG00000284375	within C13orf25		Mir19b-1 (MGI:3629917)
chr13	91351314	91351391	13q31.3	13q31.3	609422	MIR92A1, MIR92-1, MIRN92-1	Micro RNA 92A1	MIR92A1	407048	ENSG00000283705	within C13orf25		Mir92-1 (MGI:3629918)
chr13	91398621	92867237	13q32	13q31.3	602446	GPC5	Glypican 5	GPC5	2262	ENSG00000179399			Gpc5 (MGI:1194894)
chr13	93216529	94408020	13q32	13q31.3-q32.1	604404	GPC6, OMIMD1	Glypican 6	GPC6	10082	ENSG00000183098		Omodysplasia 1, 258315 (3), Autosomal recessive	Gpc6 (MGI:1346322)
chr13	94400001	101100000	13q32		614629	KTCN7	Keratoconus 7		100887822		max lod at D13S159	Keratoconus 7, 614629 (2), Autosomal dominant	
chr13	94400001	101100000	13q32		156600	MCOR, C13DELq32, DEL13q32	Microcoria, congenital (chromosome 13q32 deletion syndrome)				35-80kb deletion encompassing TGDS and GPR180	Microcoria, congenital, 156600 (4), Autosomal dominant	
chr13	94400001	101100000	13q32		603176	SCZD7	Schizophrenia susceptibility locus, chromosome 13q-related		8401			{Schizophrenia}, 181500 (2), Autosomal dominant	
chr13	94400001	101100000	13q32		609903	SLEB5	Systemic lupus erythematosus, susceptibility to, 5		100188798		max lod at D13S892	{Systemic lupus erythematosus, susceptibility to, 5}, 609903 (2)	
chr13	94400001	109600000	13q32-q33		606258	STQTL4	Stature quantitative trait locus 4		282550		max lod at D13S779 and D13S797	{Stature QTL 4}, 606258 (2)	
chr13	94436811	94549406	13q31-q32	13q32.1	191275	DCT, TYRP2, OCA8	Dopachrome tautomerase (dopachrome delta-isomerase; tyrosinase-related protein 2)	DCT	1638	ENSG00000080166		Oculocutaneous albinism, type VIII, 619165 (3), Autosomal recessive	Dct (MGI:102563)
chr13	94574054	94596273	13q32.1	13q32.1	616146	TGDS, SDR2E1, CATMANS	TDP-glucose 4,6-dehydratase	TGDS	23483	ENSG00000088451		Catel-Manzke syndrome, 616145 (3), Autosomal recessive	Tgds (MGI:1923605)
chr13	94601857	94634661	13q31	13q32.1	607787	GPR180, ITR	G protein-coupled receptor 180	GPR180	160897	ENSG00000152749			Gpr180 (MGI:1930949)
chr13	94709622	94712545	13q31-q32	13q32.1	604974	SOX21	SRY-box 21	SOX21	11166	ENSG00000125285			Sox21 (MGI:2654070)
chr13	95019835	95301451	13q32	13q32.1	605250	ABCC4, MRP4, MOATB	ATP-binding cassette, subfamily C, member 4	ABCC4	10257	ENSG00000125257			Abcc4 (MGI:2443111)
chr13	95433755	95579759	13q32.1	13q32.1	617579	CLDN10, OSPL, CPETRL3, HELIX	Claudin 10	CLDN10	9071	ENSG00000134873		HELIX syndrome, 617671 (3), Autosomal recessive	Cldn10 (MGI:1913101)
chr13	95578202	95644706	13q31	13q32.1	608671	DZIP1, KIAA0996, SPGF47, MVP3	DAZ-interacting zinc finger protein 1	DZIP1	22873	ENSG00000134874	mutation identified in 1 MVP3 family	Spermatogenic failure 47, 619102 (3), Autosomal recessive; ?Mitral valve prolapse 3, 610840 (3), Autosomal dominant	Dzip1 (MGI:1914311)
chr13	95677139	95794988	13q32	13q32.1	601184	DNAJC3, PRKRI, P58, ACPHD	DnaJ, E. coli, homolog of, subfamily C, member 3 (protein kinase inhibitor p58)	DNAJC3	5611	ENSG00000102580	mutation identified in 1 ACPHD family	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3), Autosomal recessive	Dnajc3 (MGI:107373)
chr13	95801580	96053401	13q32.1	13q32.1	605898	UGGT2, HUGT2	UDP-glucose glycoprotein glucosyltransferase 2	UGGT2	55757	ENSG00000102595			Uggt2 (MGI:1913685)
chr13	96090107	96839562	13q32-q33	13q32.1	609401	HS6ST3	Heparan sulfate 6-O-sulfotransferase 3	HS6ST3	266722	ENSG00000185352			Hs6st3 (MGI:1354960)
chr13	96985713	96994730	13q32.1	13q32.1	606922	OXGR1, GPR80, CAON2	Oxoglutarate receptor 1	OXGR1	27199	ENSG00000165621		Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, 620374 (3), Autosomal dominant	Oxgr1 (MGI:2685145)
chr13	97141834	97394120	13q32.1	13q32.1	607327	MBNL2, MBLL	Muscleblind-like splicing regulator 2	MBNL2	10150	ENSG00000139793			Mbnl2 (MGI:2145597)
chr13	97434169	97469128	13q34	13q32.1	179540	RAP2A	RAP2, member of RAS oncogene family (K-rev)	RAP2A	5911	ENSG00000125249			Rap2a (MGI:97855)
chr13	97953675	98024296	13q32.2	13q32.2	602008	IPO5, RANBP5, KPNB3	Importin 5	IPO5	3843	ENSG00000065150			Ipo5 (MGI:1917822)
chr13	98142589	98455176	13q32.2	13q32.2	602654	FARP1, CDEP	FERM, ARHGEF, and pleckstrin domain-containing protein 1	FARP1	10160	ENSG00000152767			Farp1 (MGI:2446173)
chr13	98445185	98577107	13q31.2-q32.3	13q32.2	604984	STK24, MST3, MST3B	Serine/threonine protein kinase 24	STK24	8428	ENSG00000102572			Stk24 (MGI:2385007)
chr13	98683801	98752672	13q33-q34	13q32.2-q32.3	600544	SLC15A1, HPECT1	Solute carrier family 15 (oligopeptide transporter), member 1	SLC15A1	6564	ENSG00000088386			Slc15a1 (MGI:1861376)
chr13	98793429	99088619	13q32.3	13q32.3	607325	ZIZ1, KIAA1058	Zizimin 1	DOCK9	23348	ENSG00000088387			Dock9 (MGI:106321)
chr13	99254739	99258379	13q32	13q32.3	602042	GPR18	G protein-coupled receptor-18	GPR18	2841	ENSG00000125245			Gpr18 (MGI:107859)
chr13	99294539	99307399	13q32.3	13q32.3	605741	GPR183, EBI2	G protein-coupled receptor 183	GPR183	1880	ENSG00000169508			Gpr183 (MGI:2442034)
chr13	99501472	99564048	13q32.3	13q32.3	604678	TM9SF2	Transmembrane 9 superfamily, member 2	TM9SF2	9375	ENSG00000125304			Tm9sf2 (MGI:1915309)
chr13	99606690	99909444	13q32	13q32.3	609686	CLYBL, CLB	Citrate lyase beta-like	CLYBL	171425	ENSG00000125246			Clybl (MGI:1916884)
chr13	99962964	99971909	13q32.3	13q32.3	617896	ZIC5, OPR	Zic family, member 5	ZIC5	85416	ENSG00000139800			Zic5 (MGI:1929518)
chr13	99981784	99986765	13q32	13q32.3	603073	ZIC2, HPE5	ZIC family, member 2	ZIC2	7546	ENSG00000043355		Holoprosencephaly 5, 609637 (3), Autosomal dominant	Zic2 (MGI:106679)
chr13	100089093	100530435	13q32	13q32.3	232000	PCCA	Propionyl Coenzyme A carboxylase, alpha polypeptide	PCCA	5095	ENSG00000175198		Propionicacidemia, 606054 (3), Autosomal recessive	Pcca (MGI:97499)
chr13	100530180	100588789	13q32.3	13q32.3	613378	A2LD1, GGACT	AIG1-like domain-containing protein 1	GGACT	87769	ENSG00000134864			Ggact (MGI:2385008)
chr13	100603625	100675075	13q32.3	13q32.3	618203	TMTC4, DFNB122	Transmembrane and tetratricopeptide repeat domains-containing protein 4	TMTC4	84899	ENSG00000125247	mutation identified in 1 DFNB122 family	?Deafness, autosomal recessive 122, 620714 (3), Autosomal recessive	Tmtc4 (MGI:1921050)
chr13	101053776	101417179	13q33.11	13q32.3-q33.1	611549	NALCN, IHPRF1, CLIFAHDD	Sodium leak channel, nonselective	NALCN	259232	ENSG00000102452		Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3), Autosomal dominant; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3), Autosomal recessive	Nalcn (MGI:2444306)
chr13	101100001	114364328	13q33-q34		619148	DEL13q33q34, C13DELq33q34	Chromosome 13q33-q34 deletion syndrome					Chromosome 13q33-q34 deletion syndrome, 619148 (4), Autosomal dominant	
chr13	101100001	114364328	13q33.1-q34		610361	OFC9	Orofacial cleft 9		100462724		associated with rs1830756	Orofacial cleft 9, 610361 (2), Autosomal dominant	
chr13	101452675	101720856	13q33	13q33.1	604234	ITGBL1, TIED	Integrin, beta-like 1	ITGBL1	9358	ENSG00000198542			Itgbl1 (MGI:2443439)
chr13	101710804	102402443	13q34	13q33.1	601515	FGF14, FHF4, SCA27A, SCA27B	Fibroblast growth factor-14	FGF14	2259	ENSG00000102466		Spinocerebellar ataxia 27A, 193003 (3), Autosomal dominant; Spinocerebellar ataxia 27B, late-onset, 620174 (3), Autosomal dominant	Fgf14 (MGI:109189)
chr13	102596986	102679958	13q32-q33	13q33.1	190470	TPP2, IMD78	Tripeptidyl peptidase II	TPP2	7174	ENSG00000134900		Immunodeficiency 78 with autoimmunity and developmental delay, 619220 (3), Autosomal recessive	Tpp2 (MGI:102724)
chr13	102685747	102704300	13q33.1	13q33.1	615259	METTL21C, C13orf39	Methyltransferase 21C, AARS1 lysine	METTL21C	196541	ENSG00000139780			Mettl21c (MGI:3611450)
chr13	102784281	102798976	13q33	13q33.1	611613	POGLUT2, KDELC1, EP58	Protein O-glucosyltransferase 2	POGLUT2	79070	ENSG00000134901			Poglut2 (MGI:1919300)
chr13	102799119	102841533	13q32-q33	13q33.1	619006	BIVM	Basic immunoglobulin-like variable motif-containing protein	BIVM	54841	ENSG00000134897			Bivm (MGI:2179809)
chr13	102846032	102875995	13q33	13q33.1	133530	ERCC5, XPG, COFS3	ERCC excision repair 5, endonuclease	ERCC5	2073	ENSG00000134899		Xeroderma pigmentosum, group G, 278780 (3), Autosomal recessive; Cerebrooculofacioskeletal syndrome 3, 616570 (3), Autosomal recessive; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3), Autosomal recessive	Ercc5 (MGI:103582)
chr13	103043998	103066417	13q33	13q33.1	601295	SLC10A2, NTCP2, PBAM1	Solute carrier family 10 (sodium/bile acid cotransporter family), member 2	SLC10A2	6555	ENSG00000125255	mutation identified in 1 PBAM1 patient	?Bile acid malabsorption, primary, 1, 613291 (3), Autosomal recessive	Slc10a2 (MGI:1201406)
chr13	104200001	106400000	13q33.2		614318	VUR5	Vesicoureteral reflux 5		100820760		nearest marker rs4476030	Vesicoureteral reflux 5, 614318 (2)	
chr13	105459055	105505681	13q34	13q33.2	607415	DAOAAS, G30	DAOA antisense RAN	DAOA-AS1	282706	ENSG00000232307			
chr13	105465867	105491034	13q34	13q33.2	607408	DAOA, G72	D-amino acid oxidase activator	DAOA	267012	ENSG00000182346		{Schizophrenia}, 181500 (2), Autosomal dominant	
chr13	106489745	106535662	13q33	13q33.3	600527	EFNB2, EPLG5, LERK5, HTKL	eph-related receptor tyrosine kinase ligand 5 (ephrin-B2)	EFNB2	1948	ENSG00000125266			Efnb2 (MGI:105097)
chr13	106541673	106568137	13q33.3	13q33.3	614046	ARGLU1	Arginine- and glutamate-rich protein 1	ARGLU1	55082	ENSG00000134884			Arglu1 (MGI:2442985)
chr13	107163510	107867496	13q33.3	13q33.3	619899	NALF1, NLF1	NALCN channel auxiliary factor 1	NALF1	728215	ENSG00000204442			Nalf1 (MGI:2142765)
chr13	108207442	108218349	13q22-q34	13q33.3	601837	LIG4, LIG4S	Ligase IV, DNA, ATP-dependent	LIG4	3981	ENSG00000174405		LIG4 syndrome, 606593 (3), Autosomal recessive; {Multiple myeloma, resistance to}, 254500 (3), Somatic mutation	Lig4 (MGI:1335098)
chr13	108218392	108234243	13q33.3	13q33.3	621039	ABHD13	Abhydrolase domain-containing protein 13	ABHD13	84945	ENSG00000139826			Abhd13 (MGI:1916154)
chr13	108269629	108308484	13q32-q34	13q33.3	603969	TNFSF13B, BLYS, BAFF	Tumor necrosis factor ligand superfamily, member 13B	TNFSF13B	10673	ENSG00000102524			Tnfsf13b (MGI:1344376)
chr13	108495716	109208005	13q33.3	13q33.3	615479	MYO16, MYAP3, KIAA0865	Myosin XVI	MYO16	23026	ENSG00000041515			Myo16 (MGI:2685951)
chr13	109752695	109786583	13q34	13q34	600797	IRS2	Insulin receptor substrate 2	IRS2	8660	ENSG00000185950		{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant	Irs2 (MGI:109334)
chr13	110148963	110307157	13q34	13q34	120130	COL4A1, BSVD1, HANAC, ICH, BSVD, RATOR, PADMAL	Collagen IV, alpha-1 polypeptide	COL4A1	1282	ENSG00000187498	mutation identified in 1 RATOR family	?Retinal arteries, tortuosity of, 180000 (3), Autosomal dominant; {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3), Autosomal dominant; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564 (3), Autosomal dominant; Brain small vessel disease with or without ocular anomalies, 175780 (3), Autosomal dominant	Col4a1 (MGI:88454)
chr13	110307284	110513209	13q34	13q34	120090	COL4A2, BSVD2, ICH	Collagen IV, alpha-2 polypeptide	COL4A2	1284	ENSG00000134871		Brain small vessel disease 2, 614483 (3), Autosomal dominant; {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)	Col4a2 (MGI:88455)
chr13	110615460	110639996	13q34	13q34	615910	NAXD, CARKD, PEBEL2	NAD(P)HX dehydratase	NAXD	55739	ENSG00000213995		Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 (3), Autosomal recessive	Naxd (MGI:1913353)
chr13	110641410	110713522	13q34	13q34	612800	CARS2, COXPD27	Cysteinyl-tRNA synthetase 2	CARS2	79587	ENSG00000134905		Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive	Cars2 (MGI:1919191)
chr13	110712623	110723339	13q34	13q34	601566	ING1	Inhibitor of growth 1	ING1	3621	ENSG00000153487		Squamous cell carcinoma, head and neck, somatic, 275355 (3)	Ing1 (MGI:1349481)
chr13	111114619	111305734	13q34	13q34	605477	ARHGEF7, PIXB, COOL1	Rho guanine nucleotide exchange factor 7 (PAK-interacting exchange factor, beta)	ARHGEF7	8874	ENSG00000102606			Arhgef7 (MGI:1860493)
chr13	112067149	112071706	13q34	13q34	602148	SOX1	SRY (sex determining region Y)-box 1	SOX1	6656	ENSG00000182968			Sox1 (MGI:98357)
chr13	112485011	112605630	13q34	13q34	617818	TUBGCP3, GCP3, GRIP104, SPC98, ALP6	Tubulin-gamma complex-associated protein 3	TUBGCP3	10426	ENSG00000126216			Tubgcp3 (MGI:2183752)
chr13	112690038	112887168	13q34	13q34	605868	ATP11A, ATPIS, ATPIH, DFNA84, HLD24, AUNA2	ATPase, class VI, type 11A	ATP11A	23250	ENSG00000068650	mutation identified in 1 HLD24 patient and 1 AUNA2 family	?Auditory neuropathy, autosomal dominant 2, 620384 (3), Autosomal dominant; ?Leukodystrophy, hypomyelinating, 24, 619851 (3), Autosomal dominant; Deafness, autosomal dominant 84, 619810 (3), Autosomal dominant	Atp11a (MGI:1354735)
chr13	112894335	113099742	13q34	13q34	609499	MCF2L, OST, KIAA0362	MCF.2 cell line-derived transforming sequence-like	MCF2L	23263	ENSG00000126217			Mcf2l (MGI:103263)
chr13	113105788	113120685	13q34	13q34	613878	F7	Coagulation factor VII	F7	2155	ENSG00000057593		{Myocardial infarction, decreased susceptibility to}, 608446 (3); Factor VII deficiency, 227500 (3), Autosomal recessive	F7 (MGI:109325)
chr13	113122799	113149529	13q34	13q34	613872	F10	Coagulation factor X	F10	2159	ENSG00000126218		Factor X deficiency, 227600 (3), Autosomal recessive	F10 (MGI:103107)
chr13	113158648	113172386	13q34	13q34	176895	PROZ, PZ	Protein Z	PROZ	8858	ENSG00000126231		[Protein Z deficiency], 614024 (3)	Proz (MGI:1860488)
chr13	113165002	113208669	13q34	13q34	613713	PCID2	PCI domain-containing protein 2	PCID2	55795	ENSG00000126226			Pcid2 (MGI:2443003)
chr13	113208193	113267108	13q34	13q34	603137	CUL4A	Cullin 4A	CUL4A	8451	ENSG00000139842			Cul4a (MGI:1914487)
chr13	113297239	113323672	13q34	13q34	153330	LAMP1	Lysosome-associated membrane protein-1	LAMP1	3916	ENSG00000185896			Lamp1 (MGI:96745)
chr13	113324163	113364148	13q34	13q34	620890	GRTP1, TBC1D6	Growth hormone-regulated TBC protein 1	GRTP1	79774	ENSG00000139835			Grtp1 (MGI:1914040)
chr13	113399610	113453488	13q31	13q34	610620	ADPRHL1, ARH2	ADP-ribosylhydrolase-like 1	ADPRHL1	113622	ENSG00000153531			Adprhl1 (MGI:2442168)
chr13	113491021	113550229	13q34	13q34	617134	TMCO3, C13orf11	Transmembrane and coiled-coil domains protein 3	TMCO3	55002	ENSG00000150403			Tmco3 (MGI:2444946)
chr13	113584688	113641473	13q34	13q34	189902	TFDP1, DP1, DRTF1	Transcription factor Dp-1	TFDP1	7027	ENSG00000198176	pseudogene on 1q32.3		Tfdp1 (MGI:101934)
chr13	113648199	113737736	13q34	13q34	180381	GRK1, RHOK, RK	G protein-dependent receptor kinase 1 (rhodopsin kinase)	GRK1	6011	ENSG00000185974		Oguchi disease-2, 613411 (3)	Grk1 (MGI:1345146)
chr13	113648804	113658198	13q34	13q34	137217	ATP4B	ATPase, H+, K+ transporting, beta	ATP4B	496	ENSG00000186009			Atp4b (MGI:88114)
chr13	113820549	113864076	13q34	13q34	600441	GAS6, AXLLG, AXSF	Growth arrest-specific 6	GAS6	2621	ENSG00000183087			Gas6 (MGI:95660)
chr13	113977783	114132623	13q34	13q34	605182	RASA3	Ras p21 protein activator 3	RASA3	22821	ENSG00000185989			Rasa3 (MGI:1197013)
chr13	114234897	114272723	13q34	13q34	603461	CDC16, APC6	Cell division cycle 16	CDC16	8881	ENSG00000130177			Cdc16 (MGI:1917207)
chr13	114281601	114305817	13q34	13q34	605530	UPF3A, RENT3A	UPF3A regulator of nonsense-mediated mRNA decay	UPF3A	65110	ENSG00000169062			Upf3a (MGI:1914281)
chr13	114314503	114327322	13q34	13q34	616327	CHAMP1, ZNF828, C13orf8, KIAA1802, NEDHILD	Chromosome alignment-maintaining phosphoprotein 1	CHAMP1	283489	ENSG00000198824		Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, 616579 (3), Autosomal dominant	Champ1 (MGI:1196398)
chr14	3600001	8000000	14p12		180451	RNR2	Ribosomal RNA-2		6053				
chr14	8000001	37400000	14p11.2-q13		606771	ADIPQTL3, CAQ14	Adiponectin, serum level of, quantitative trait locus 3		171512		between D14S608 and D14S599	{Adiponectin, serum level of, QTL3}, 606771 (2)	
chr14	17200001	57600000	14q11-q22		613457	DEL14q11q22, C14DELq11q22	Chromosome 14q11-q22 deletion syndrome				contiguous gene syndrome	Chromosome 14q11-q22 deletion syndrome, 613457 (4), Isolated cases	
chr14	17200001	32900000	14q11-q12		606675	IBD4	Inflammatory bowel disease 4		50608			{Inflammatory bowel disease 4}, 606675 (2)	
chr14	17200001	24100000	14q11		617833	ZFHX2AS1	ZFHX2 antisense RNA 1	ZFHX2-AS1	109729160				
chr14	18200001	32900000	14q11.2-q12		609965	DFNA53	Deafness, autosomal dominant 53		353347		max lod at D14S1280	Deafness, autosomal dominant 53, 609965 (2), Autosomal dominant	
chr14	18200001	37400000	14q11.2-q13		144110	HHPP	Hyperhidrosis palmaris et plantaris		100861529		between D14S283 and D14S264	Hyperhidrosis palmaris et plantaris, 144110 (2), Autosomal dominant	
chr14	18200001	32900000	14q11.2-q12		611095	MRT9, MRT26	Intellectual developmental disorder, autosomal recessive 9/26		100101424		between rs1998463 and rs243286	Intellectual developmental disorder, autosomal recessive 9/26, 611095 (2), Autosomal recessive	
chr14	18200001	24100000	14q11.2		612851	NRCLP5	Narcolepsy 5		100302514		associated with rs1154155, rs12587781, rs1263646	{Narcolepsy 5}, 612851 (2)	
chr14	18200001	32900000	14q11.2-q12		610420	PAURT1	Preauricular tag, isolated, autosomal dominant, 1		101669760		between D14S990 and D14S264	Preauricular tag, isolated, autosomal dominant, 1, 610420 (2), Autosomal dominant	
chr14	18200001	24100000	14q11.2		605463	RSCIS	Radiation sensitivity/chromosome instability syndrome, autosomal dominant		64239			Radiation sensitivity/chromosome instability syndrome, autosomal dominant (1)	
chr14	18200001	32900000	14q11.2-q12		610234	SPD3	Synpolydactyly 3		780922		max lod at D14S264	Synpolydactyly 3, 610234 (2), Autosomal dominant	
chr14	18200001	24100000	14q11.2		615443	TRAJ@	T-cell receptor alpha chain joining gene cluster						
chr14	18200001	24100000	14q11.2		615442	TRAV@	T-cell receptor alpha chain variable gene cluster						
chr14	18200001	24100000	14q11.2		615460	TRDD@	T-cell receptor delta chain diversity gene cluster						
chr14	18200001	24100000	14q11.2		615461	TRDJ@	T-cell receptor delta chain joining gene cluster						
chr14	18200001	24100000	14q11.2		615459	TRDV@	T-cell receptor delta chain variable gene cluster						
chr14	19402486	19434341	14q11.2	14q11.2	608916	POTEG, POTE14	POTE ankyrin domain family, member G	POTEG	404785	ENSG00000187537			Ankrd68,Potefam1,Potefam2 (MGI:1914825,MGI:1918231,MGI:3644757)
chr14	19773504	19783696	14q11.2	14q11.2	619939	OR4M1, OLFR734	Olfactory receptor, family 4, subfamily M, member 1	OR4M1	441670	ENSG00000176299			Or4m1 (MGI:3030568)
chr14	20286227	20305951	14q11.2	14q11.2	619014	TTC5, NEDCAFD	Tetratricopeptide repeat domain-containing protein 5	TTC5	91875	ENSG00000136319		Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, 619244 (3), Autosomal recessive	Ttc5 (MGI:2683584)
chr14	20311370	20333279	14q11.1	14q11.2	608249	C14orf18, HEI10	Human enhancer of invasion 10	CCNB1IP1	57820	ENSG00000100814			Ccnb1ip1 (MGI:2685134)
chr14	20343071	20343411	14q11.2	14q11.2	608513	RPPH1, H1RNA	Ribonuclease P, RNA component H1	RPPH1	85495	ENSG00000277209			Rpph1 (MGI:1934664)
chr14	20343635	20357904	14q11.2	14q11.2	607725	PARP2, ADPRTL2, ADPRT2	Poly(ADP-ribose) polymerase 2	PARP2	10038	ENSG00000129484			Parp2 (MGI:1341112)
chr14	20365667	20413501	14q11.2	14q11.2	601686	TEP1, TP1	Telomerase-associated protein-1	TEP1	7011	ENSG00000129566			Tep1 (MGI:109573)
chr14	20446401	20454812	14q11.2-q12	14q11.2	610107	OSGEP, FLJ20411, GAMOS3	O-sialoglycoprotein endopeptidase	OSGEP	55644	ENSG00000092094		Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive	Osgep (MGI:1913496)
chr14	20455226	20457767	14q12	14q11.2	107748	APEX, APE	APEX nuclease (multifunctional DNA repair enzyme)	APEX1	328	ENSG00000100823			Apex1 (MGI:88042)
chr14	20457681	20461434	14q11.2	14q11.2	609865	PIP4P1, TMEM55B, C14orf9	Phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	PIP4P1	90809	ENSG00000165782			Pip4p1 (MGI:2448501)
chr14	20469406	20477089	14q13.1	14q11.2	164050	PNP, NP	Purine nucleoside phosphorylase	PNP	4860	ENSG00000198805	centromeric to TCRA	Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3), Autosomal recessive	Pnp,Pnp2 (MGI:3712328,MGI:97365)
chr14	20504233	20513884	14q11.2	14q11.2	621046	RNASE10	Ribonuclease A family, member 10, inactive	RNASE10	338879	ENSG00000182545			Rnase10 (MGI:1922269)
chr14	20556093	20561047	14q11.2	14q11.2	614014	RNAE9	Ribonuclease A family, member 9	RNASE9	390443	ENSG00000188655			Rnase9 (MGI:3057273)
chr14	20609336	20609407	14q11	14q11.2	189930	TRNAP1, TRP1	tRNA proline-1	TRP-AGG2-5	7217				
chr14	20610132	20610213	14q11-q12	14q11.2	189932	TRL-AAG2-1, TRNAL1, TRL1	tRNA leucine (AAG) 2-1	TRL-AAG2-3	7207				
chr14	20613401	20613472	14q11-q12	14q11.2	189931	TRNAP2, TRP2	tRNA proline-2	TRP-AGG2-6	7218				
chr14	20613790	20613862	14q11-q12	14q11.2	189933	TRT-TGT3-1, TRNAT2, TRT2	tRNA threonine (anticodon TGT) 3-1	TRT-TGT3-1	7237				
chr14	20684177	20694186	14q11.2	14q11.2	105850	ANG, RNASE5, ALS9	Angiogenin	ANG	283	ENSG00000214274	proximal to TCRA/TCRD	Amyotrophic lateral sclerosis 9, 611895 (3)	Ang,Ang2,Ang3,Ang4,Ang5,Ang6 (MGI:104984,MGI:1201793,MGI:2656551,MGI:3528599,MGI:3528602,MGI:88022)
chr14	20684560	20701216	14q11.2	14q11.2	601030	RNASE4, RNS4	Ribonuclease A family, member 4	RNASE4	6038	ENSG00000258818			Rnase4 (MGI:1926217)
chr14	20735946	20748380	14q11.2	14q11.2	611580	EDDM3A, FAM12A, HE3A	Epididymal protein 3A	EDDM3A	10876	ENSG00000181562			Eddm3b (MGI:2684921)
chr14	20768404	20770948	14q11.2	14q11.2	611582	FAM12B, HE3B	Family with sequence similarity 12, member B	EDDM3B	64184	ENSG00000181552			Eddm3b (MGI:2684921)
chr14	20781070	20782467	14q11.2	14q11.2	601981	RNASE6	Ribonuclease A family, member 6	RNASE6	6039	ENSG00000169413			Rnase6 (MGI:1925666)
chr14	20801228	20802844	14q11.2	14q11.2	180440	RNASE1, RNS1	Ribonuclease A family, member 1, pancreatic	RNASE1	6035	ENSG00000129538			Rnase1 (MGI:97919)
chr14	20891385	20892348	14q11.2	14q11.2	131398	RNASE3, RNS3, ECP	Ribonuclease A family, member 3 (eosinophil cationic protein)	RNASE3	6037	ENSG00000169397			Ear1,Ear10,Ear14,Ear2,Ear3,Ear4,Ear6,Rnase2a,Rnase2b (MGI:108020,MGI:108021,MGI:1858237,MGI:1858238,MGI:1858598,MGI:1890463,MGI:1890464,MGI:1890465,MGI:3528616)
chr14	20955487	20956436	14q11.2	14q11.2	131410	RNASE2, RNS2, EDN	Ribonuclease A family, member 2 (eosinophil-derived neurotoxin)	RNASE2	6036	ENSG00000169385			Ear1,Ear10,Ear14,Ear2,Ear3,Ear4,Ear6,Rnase2a,Rnase2b (MGI:108020,MGI:108021,MGI:1858237,MGI:1858238,MGI:1858598,MGI:1890463,MGI:1890464,MGI:1890465,MGI:3528616)
chr14	20989980	20997035	14q11.2	14q11.2	616091	METTL17, METT11D1	Methyltransferase-like 17	METTL17	64745	ENSG00000165792			Mettl17 (MGI:1098577)
chr14	20999293	21001871	14q11.2	14q11.2	612166	SLC39A2, ZIP2	Solute carrier family 39 (zinc transporter), member 2	SLC39A2	29986	ENSG00000165794			Slc39a2 (MGI:2684326)
chr14	21016763	21070872	14q11.2	14q11.2	605272	NDRG2	N-myc downstream-regulated gene 2	NDRG2	57447	ENSG00000165795			Ndrg2 (MGI:1352498)
chr14	21024299	21036352	14q11.2	14q11.2	616956	TPPP2, p18	Tubulin polymerization-promoting protein family, member 2	TPPP2	122664	ENSG00000179636			Tppp2 (MGI:2684923)
chr14	21042362	21044233	14q11.2	14q11.2	612484	RNASE7	Ribonuclease A family, member 7	RNASE7	84659	ENSG00000165799			
chr14	21057822	21058455	14q11.2	14q11.2	612485	RNASE8	Ribonuclease A family, member 8	RNASE8	122665	ENSG00000173431			
chr14	21061264	21090248	14q11.2	14q11.2	610018	ARHGEF40, SOLO, FLJ10357	RHO guanine nucleotide exchange factor 40	ARHGEF40	55701	ENSG00000165801			Arhgef40 (MGI:2685515)
chr14	21090077	21104722	14q11	14q11.2	605036	ZNF219	Zinc finger protein-219	ZNF219	51222	ENSG00000165804			Zfp219 (MGI:1917140)
chr14	21209147	21269442	14q11.2	14q11.2	164020	HNRNPC, HNRPC, MRD74	Heterogeneous nuclear ribonucleoprotein C	HNRNPC	3183	ENSG00000092199		Intellectual developmental disorder, autosomal dominant 74, 620688 (3), Autosomal dominant	Hnrnpc (MGI:107795)
chr14	21280083	21351301	14q11	14q11.2	605446	RPGRIP1, LCA6, CORD13	RPGR interacting protein 1	RPGRIP1	57096	ENSG00000092200		Cone-rod dystrophy 13, 608194 (3), Autosomal recessive; Leber congenital amaurosis 6, 613826 (3), Autosomal recessive	Rpgrip1 (MGI:1932134)
chr14	21351476	21384019	14q11.2	14q11.2	605012	SUPT16H, SPT16, NEDDFAC	SPT16 homolog, facilitates chromatin remodeling subunit	SUPT16H	11198	ENSG00000092201		Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, 619480 (3), Autosomal dominant	Supt16 (MGI:1890948)
chr14	21385199	21456123	14q11.2	14q11.2	610528	CHD8, DUPLIN, KIAA1564, IDDAM	Chromodomain helicase DNA-binding protein 8	CHD8	57680	ENSG00000100888		Intellectual developmental disorder with autism and macrocephaly, 615032 (3), Autosomal dominant	Chd8 (MGI:1915022)
chr14	21397293	21397401	14q11.2	14q11.2	618943	SNORD8, RNU6C	Small nucleolar RNA, C/D box, 8	SNORD8	319103	ENSG00000200785			
chr14	21459020	21476959	14q11.1-q11.2	14q11.2	607466	RAB2B	Ras-associated protein RAB2B	RAB2B	84932	ENSG00000129472			Rab2b (MGI:1923588)
chr14	21477195	21499170	14q11.2	14q11.2	614032	TOX4, LCP1, KIAA0737	TOX high mobility group box family member 4	TOX4	9878	ENSG00000092203			Tox4 (MGI:1915389)
chr14	21498138	21511340	14q11.1	14q11.2	612472	METTL3, IME4	Methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	METTL3	56339	ENSG00000165819			Mettl3 (MGI:1927165)
chr14	21521080	21537121	14q11.1-q12	14q11.2	602219	SALL2, HSAL2, COLB	Sal-like 2	SALL2	6297	ENSG00000165821	mutation identified in 1 COLB family	?Coloboma, ocular, autosomal recessive, 216820 (3), Autosomal recessive	Sall2 (MGI:1354373)
chr14	22462932	22466577	14q11.2	14q11.2	186810	TRDC	T-cell receptor delta chain constant region		28526		in midst of TCRA		Trdc (MGI:98612)
chr14	22547506	22552132	14q11.2	14q11.2	186880	TRAC, TRCA, TRA, IMD7	T-cell receptor alpha		28755	ENSG00000277734	cen--V-C--ter	Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3), Autosomal recessive	Trac (MGI:4439838)
chr14	22564907	22589224	14q11-q12	14q11.2	600243	DAD1	Defender against cell death 1	DAD1	1603	ENSG00000129562			Dad1 (MGI:101912)
chr14	22598300	22612963	14q11.2	14q11.2	619728	ABHD4, ABH4	Abhydrolase domain-containing protein 4, N-acyl phospholipase B	ABHD4	63874	ENSG00000100439			Abhd4 (MGI:1915938)
chr14	22766688	22773042	14q11.2	14q11.2	601066	OXA1L	Oxidase (cytochrome c) assembly 1-like	OXA1L	5018	ENSG00000155463			Oxa1l (MGI:1916339)
chr14	22773222	22819791	14q11.2	14q11.2	603593	SLC7A7, LPI	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7	SLC7A7	9056	ENSG00000155465		Lysinuric protein intolerance, 222700 (3), Autosomal recessive	Slc7a7 (MGI:1337120)
chr14	22829887	22835037	14q11.2	14q11.2	611856	MRPL52	Mitochondrial ribosomal protein L52	MRPL52	122704	ENSG00000172590			Mrpl52 (MGI:1916086)
chr14	22836585	22847758	14q11.2	14q11.2	600754	MMP14, WNCHRS	Matrix metalloproteinase 14 (membrane-inserted)	MMP14	4323	ENSG00000157227		Winchester syndrome, 277950 (3), Autosomal recessive	Mmp14 (MGI:101900)
chr14	22871740	22881713	14q11.2	14q11.2	609921	LRP10, LRP9	Low density lipoprotein receptor-related protein 10	LRP10	26020	ENSG00000197324			Lrp10 (MGI:1929480)
chr14	22883222	22887678	14q11.2	14q11.2	616955	REM2	RRAD- and GEM-like GTPase 2	REM2	161253	ENSG00000139890			Rem2 (MGI:2155260)
chr14	22893204	22919149	14q11.2	14q11.2	621023	RBM23, RNPC4	RNA-binding motif protein 23	RBM23	55147	ENSG00000100461			
chr14	22920529	22929376	14q11.2	14q11.2	604045	PRMT5, SKB1, IBP72, JBP1, HSL7	Protein arginine methyltransferase 5	PRMT5	10419	ENSG00000100462			Prmt5 (MGI:1351645)
chr14	22946228	22957090	14q11.2	14q11.2	613431	HAUS4, C14orf94	HAUS augmin-like complex, subunit 4	HAUS4	54930	ENSG00000092036			Haus4 (MGI:1261794)
chr14	22971177	22982551	14q11.2	14q11.2	609066	AJUBA, JUB	AJUBA LIM protein	AJUBA	84962	ENSG00000129474			Ajuba (MGI:1341886)
chr14	23025851	23035220	14q11.2	14q11.2	600306	PSMB5, LMPX	Proteasome subunit, beta type, 5	PSMB5	5693	ENSG00000100804			Psmb5 (MGI:1194513)
chr14	23042212	23044060	14q11.2	14q11.2	611137	PSMB11	Proteasome subunit, beta-type, 11	PSMB11	122706	ENSG00000222028			Psmb11 (MGI:1921152)
chr14	23047067	23057520	14q11.2	14q11.2	618599	CDH24	Cadherin 24	CDH24	64403	ENSG00000139880			Cdh24 (MGI:1928330)
chr14	23058564	23095614	14q11.2	14q11.2	604562	ACIN1, KIAA0670	Acinus	ACIN1	22985	ENSG00000100813			Acin1 (MGI:1891824)
chr14	23099062	23104989	14q11.2	14q11.2	619703	CIROP, LMLN2, HTX12	Ciliated left-right organizer metallopeptidase	CIROP	100128908	ENSG00000283654		Heterotaxy, visceral, 12, autosomal, 619702 (3), Autosomal recessive	Cirop (MGI:5588935)
chr14	23117306	23119255	14q11.2	14q11.2	600749	CEBPE, CRP1, SGD1, IMD108	CCAAT/enhancer-binding protein (C/EBP), epsilon	CEBPE	1053	ENSG00000092067	mutation identified in 1 IMD108 family	?Immunodeficiency 108 with autoinflammation, 260570 (3), Autosomal recessive; Specific granule deficiency, 245480 (3), Autosomal recessive, Autosomal dominant	Cebpe (MGI:103572)
chr14	23125295	23183660	14q11.2	14q11.2	604235	SLC7A8, LAT2	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 8	SLC7A8	23428	ENSG00000092068			Slc7a8 (MGI:1355323)
chr14	23185336	23273477	14q11.2	14q11.2	621020	RNF212B	RING finger protein 212B	RNF212B	100507650	ENSG00000215277			Rnf212b (MGI:5589964)
chr14	23272422	23286132	14q11.2	14q11.2	608119	HOMEZ, KIAA1443	Homeodomain leucine zipper-containing factor	HOMEZ	57594	ENSG00000290292			Homez (MGI:2678023)
chr14	23295652	23302859	14q11.2	14q11.2	619540	PPP1R3E	Protein phosphatase 1, regulatory subunit 3E	PPP1R3E	90673	ENSG00000235194			Ppp1r3e (MGI:2145790)
chr14	23306833	23311751	14q11.2-q12	14q11.2	601931	BCL2L2, BCLW	BCL2-like 2	BCL2L2	599	ENSG00000129473			Bcl2l2 (MGI:108052)
chr14	23321457	23326163	14q11.2-q13	14q11.2	602279	PABPN1, PABP2, PAB2	Poly(A)-binding protein, nuclear 1	PABPN1	8106	ENSG00000100836		Oculopharyngeal muscular dystrophy, 164300 (3), Autosomal dominant	Pabpn1 (MGI:1859158)
chr14	23346311	23352887	14q11.2	14q11.2	611461	SLC22A17, NGALR, BOIT, BOCT, NGALR2, NGALR3	Solute carrier family 22, organic cation transporter, member 17	SLC22A17	51310	ENSG00000092096			Slc22a17 (MGI:1926225)
chr14	23356406	23365172	14q11.2-q12	14q11.2	609906	EFS	Embryonal FYN-associated substrate	EFS	10278	ENSG00000100842			Efs (MGI:105311)
chr14	23372809	23376403	14q11.2	14q11.2	605658	IL25, IL17E	Interleukin 25	IL25	64806	ENSG00000166090			Il25 (MGI:2155888)
chr14	23376771	23379772	14q11.2	14q11.2	607888	CMTM5, CKLFSF5	CKLF-like marvel transmembrane domain-containing 5	CMTM5	116173	ENSG00000166091			Cmtm5 (MGI:2447164)
chr14	23381987	23408273	14q12	14q11.2	160710	MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3	Myosin, heavy polypeptide-6, cardiac muscle, alpha	MYH6	4624	ENSG00000197616	mutation identified in 1 ASD3 family	?Atrial septal defect 3, 614089 (3), Autosomal dominant; {Sick sinus syndrome 3}, 614090 (3); Cardiomyopathy, dilated, 1EE, 613252 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 14, 613251 (3), Autosomal dominant	Myh6 (MGI:97255)
chr14	23388596	23388666	14q12	14q11.2	611116	MIR208A, MIRN208A, MIR208, MIRN208	Micro RNA 208A	MIR208A	406990	ENSG00000199157			Mir208a (MGI:2676883)
chr14	23412740	23435660	14q12	14q11.2	160760	MYH7, CMH1, MPD1, CMD1S, CMYO7A, CMYO7B	Myosin, heavy polypeptide-7, cardiac muscle, beta	MYH7	4625	ENSG00000092054		Laing distal myopathy, 160500 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 1, 192600 (3), Digenic dominant, Autosomal dominant; Left ventricular noncompaction 5, 613426 (3), Autosomal dominant; Cardiomyopathy, dilated, 1S, 613426 (3), Autosomal dominant; Congenital myopathy 7B, myosin storage, autosomal recessive, 255160 (3), Autosomal recessive; Congenital myopathy 7A, myosin storage, autosomal dominant, 608358 (3), Autosomal dominant	Myh7 (MGI:2155600)
chr14	23415450	23417595	14q11.2	14q11.2	616096	MHRT	Myosin heavy chain-associated RNA transcript, noncoding	MHRT	104564225				Mhrt (MGI:3642848)
chr14	23417987	23418063	14q11.2	14q11.2	613613	MIR208B, MIRN208B	Micro RNA 208B	MIR208B	100126336	ENSG00000215991			Mir208b (MGI:3718461)
chr14	23469703	23478826	14q11.2	14q11.2	610777	NGDN, NGD	Neuroguidin	NGDN	25983	ENSG00000129460			Ngdn (MGI:1916216)
chr14	23511760	23560271	14q11.2	14q11.2	611612	THTPA	Thiamine triphosphatase	THTPA	79178	ENSG00000259431			Thtpa (MGI:2446078)
chr14	23520857	23555952	14q11.2	14q11.2	617828	ZFHX2, ZFH5, ZNF409, KIAA1056, KIAA1762, MARSIS	Zinc finger homeobox 2	ZFHX2	85446	ENSG00000136367	mutation identified in 1 MARSIS family	?Marsili syndrome, 147430 (3), Autosomal dominant	Zfhx2 (MGI:2686934)
chr14	23559567	23567791	14q11.2	14q11.2	603534	AP1G2	Adaptor-related protein complex 1, gamma-2 subunit	AP1G2	8906	ENSG00000213983			Ap1g2 (MGI:1328307)
chr14	23568038	23578790	14q11.1	14q11.2	619863	JPH4, JP4	Junctophilin 4	JPH4	84502	ENSG00000092051			Jph4 (MGI:2443113)
chr14	23630115	23645639	14q11.2	14q11.2	615194	DHRS2, HEP27	Short-chain dehydrogenase/reductase family, member 2	DHRS2	10202	ENSG00000100867			Dhrs2 (MGI:1918662)
chr14	23938731	23955112	14q11.2	14q11.2	616925	DHRS4AS1, AS1DHRS4, C14orf67	DDHRS4 antisense RNA 1, noncoding	DHRS4-AS1	55449	ENSG00000215256			
chr14	23953770	23969279	14q11.2	14q11.2	611596	DHRS4, NRDR	Short-chain dehydrogenase/reductase family, member 4	DHRS4	10901	ENSG00000157326			Dhrs4 (MGI:90169)
chr14	23969874	24006408	14q11.2	14q11.2	615196	DHRS4L2	Short-chain dehydrogenase/reductase family, member 4-like 2	DHRS4L2	317749	ENSG00000187630			Dhrs4 (MGI:90169)
chr14	24007084	24051377	14q11.2	14q11.2	615195	DHRS4L1	Short-chain dehydrogenase/reductase family, member 4-like 1	DHRS4L1	728635	ENSG00000291039			Dhrs4 (MGI:90169)
chr14	24052009	24069729	14q11.2	14q11.2	614716	LRRC16B	Leucine-rich repeat-containing protein 16B	CARMIL3	90668	ENSG00000186648			Carmil3 (MGI:2448573)
chr14	24070949	24078087	14q11.2	14q11.2	605688	CPNE6	Copine VI	CPNE6	9362	ENSG00000100884			Cpne6 (MGI:1334445)
chr14	24078662	24114949	14q11.1-q11.2	14q11.2-q12	162080	NRL, D14S46E, RP27	Neural retina leucine zipper	NRL	4901	ENSG00000129535		Retinitis pigmentosa 27, 613750 (3), Autosomal dominant; Retinal degeneration, autosomal recessive, clumped pigment type (3)	Nrl (MGI:102567)
chr14	24094171	24104125	14q11.2-q12	14q11.2-q12	614095	PCK2, PEPCK2	Phosphoenolpyruvate carboxykinase 2, mitochondrial	PCK2	5106	ENSG00000100889		PEPCK deficiency, mitochondrial, 261650 (1), Autosomal recessive	Pck2 (MGI:1860456)
chr14	24100001	57600000	14q12-q22		602086	ARVD3	Arrhythmogenic right ventricular dysplasia 3		424		?distinct from ARVD1	Arrhythmogenic right ventricular dysplasia 3, 602086 (2), Autosomal dominant	
chr14	24100001	32900000	14q12		600792	DFNB5	Deafness, autosomal recessive 5		1697			Deafness, autosomal recessive 5, 600792 (2), Autosomal recessive	
chr14	24100001	50400000	14q12-q21		611252	SPG32	Spastic paraplegia-32		724107		between D14S264 and D14S978	Spastic paraplegia 32, autosomal recessive, 611252 (2), Autosomal recessive	
chr14	24114777	24125242	14q11.2	14q12	613317	DCAF11, WDR23	DDB1- and CUL4-associated factor 11	DCAF11	80344	ENSG00000100897			Dcaf11 (MGI:90168)
chr14	24130659	24132847	14q12	14q12	612028	FITM1, FIT1	Fat storage-inducing transmembrane protein 1	FITM1	161247	ENSG00000139914			Fitm1 (MGI:1915930)
chr14	24136194	24138962	14q11.2	14q12	600654	PSME1, IFI5111	Proteasome activator subunit-1	PSME1	5720	ENSG00000092010			Psme1 (MGI:1096367)
chr14	24143365	24146610	14q11.2	14q12	602161	PSME2	Proteasome activator subunit-2	PSME2	5721	ENSG00000100911			Psme2,Psme2b (MGI:1096365,MGI:1341073)
chr14	24146875	24160655	14q11.2	14q12	612487	RNF31, ZIBRA, IMD115	RING finger protein 31	RNF31	55072	ENSG00000092098		Immunodeficiency 115 with autoinflammation, 620632 (3), Autosomal recessive	Rnf31 (MGI:1934704)
chr14	24161265	24166565	14q11.2	14q12	147574	IRF9, ISGF3, ISGF3G	Interferon regulatory factor 9	IRF9	10379	ENSG00000213928		Immunodeficiency 65, susceptibility to viral infections, 618648 (3), Autosomal recessive	Irf9 (MGI:107587)
chr14	24172080	24180923	14q11.2-q12	14q12	608193	REC8L1, REC8	Rec8, S. pombe, homolog of	REC8	9985	ENSG00000100918			Rec8 (MGI:1929645)
chr14	24189149	24195441	14q12	14q12	618965	TM9SF1, HMP70	Transmembrane protein 9 superfamily, member 1	TM9SF1	10548	ENSG00000100926			Tm9sf1 (MGI:1921390)
chr14	24205696	24208248	14q11.2	14q12	610711	TSSK4, TSSK5	Testis-specific serine/threonine kinase 4	TSSK4	283629	ENSG00000139908			Tssk4 (MGI:1918349)
chr14	24209615	24213488	14q12	14q12	610051	CHMP4A, SNF7	Charged multivesicular body protein 4A	CHMP4A	29082	ENSG00000254505			
chr14	24216857	24232367	14q12	14q12	603171	NEDD8	Neural precursor cel expressed, developmentally downregulated 8	NEDD8	4738	ENSG00000129559			Nedd8 (MGI:97301)
chr14	24232622	24239242	14q11-q21	14q12	610781	GMPR2	Guanosine monophosphate reductase 2	GMPR2	51292	ENSG00000100938			Gmpr2 (MGI:1917903)
chr14	24239640	24242674	14q12	14q12	604319	TINF2, TIN2, DKCA3	TERF1-interacting nuclear factor 2	TINF2	26277	ENSG00000092330		Dyskeratosis congenita, autosomal dominant 3, 613990 (3), Autosomal dominant; Revesz syndrome, 268130 (3), Autosomal dominant	Tinf2 (MGI:107246)
chr14	24249114	24263177	14q11.2	14q12	190195	TGM1, ICR2, ARCI1	Transglutaminase-1 (K polypeptide epidermal type I, protein-glutamine gamma-glutamyltransferase)	TGM1	7051	ENSG00000092295		Ichthyosis, congenital, autosomal recessive 1, 242300 (3), Autosomal recessive	Tgm1 (MGI:98730)
chr14	24265538	24271627	14q11.2	14q12	601905	RABGGTA	Rab geranylgeranyltransferase, alpha subunit	RABGGTA	5875	ENSG00000100949			Rabggta (MGI:1860443)
chr14	24271203	24309124	14q12	14q12	618308	NOP9	NOP9, S. cerevisiae, homolog of	NOP9	161424	ENSG00000196943			Nop9 (MGI:1915092)
chr14	24290598	24299780	14q21.3	14q12	610410	DHRS1	Short-chain dehydrogenase/reductase family, member 1	DHRS1	115817	ENSG00000157379			Dhrs1 (MGI:1196314)
chr14	24305187	24311435	14q12	14q12	604441	CIDEB	Cell death-inducing DFFA-like effector B	CIDEB	27141	ENSG00000136305			Cideb (MGI:1270844)
chr14	24310140	24312038	14q11.2-q12	14q12	605773	LTB4R2, BLTR2, BLT2	Leukotriene B4 receptor 2	LTB4R2	56413	ENSG00000213906			Ltb4r2 (MGI:1888501)
chr14	24311502	24318036	14q11.2-q12	14q12	601531	LTB4R, CMKRL1, P2RY7, BLTR	Leukotriene b4 receptor (purinergic receptor P2Y, G protein-coupled, 7; chemokine receptor-like 1)	LTB4R	1241	ENSG00000213903			Ltb4r1 (MGI:1309472)
chr14	24318359	24335071	14q11.2	14q12	600292	ADCY4	Adenylate cyclase-4	ADCY4	196883	ENSG00000129467			Adcy4 (MGI:99674)
chr14	24336025	24339991	14q11.2	14q12	605817	RIPK3, RIP3	Receptor-interacting serine/threonine kinase 3	RIPK3	11035	ENSG00000129465			Ripk3 (MGI:2154952)
chr14	24366911	24379604	Chr.14	14q12	602699	NFATC4	Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 4	NFATC4	4776	ENSG00000100968			Nfatc4 (MGI:1920431)
chr14	24399003	24419283	14q11.2	14q12	620129	NYNRIN, KIAA1305	NYN domain- and retroviral integrase-containing protein	NYNRIN	57523	ENSG00000205978			Nynrin (MGI:2652872)
chr14	24423165	24441843	14q12	14q12	619579	KHNYN	KH domain- and NYN domain-containing protein	KHNYN	23351	ENSG00000100441			Khnyn (MGI:2451333)
chr14	24426545	24429668	14q12	14q12	612978	CBLN3	Precerebellin 3	CBLN3	643866	ENSG00000139899			Cbln3 (MGI:1889286)
chr14	24439766	24442843	14q12	14q12	616162	SDR39U1	Short-chain dehydrogenase/reductase family 39U, member 1	SDR39U1	56948	ENSG00000100445			Sdr39u1 (MGI:1916876)
chr14	24505353	24508265	14q11.2	14q12	118938	CMA1	Chymase-1, mast cell	CMA1	1215	ENSG00000092009			Cma1 (MGI:96941)
chr14	24573518	24576250	14q11.2	14q12	116830	CTSG	Cathepsin G	CTSG	1511	ENSG00000100448			Ctsg (MGI:88563)
chr14	24606480	24609685	14q11.2	14q12	116831	GZMH, CTSGL2	Granzyme H (cathepsin G-like 2)	GZMH	2999	ENSG00000100450			Gzmd,Gzme,Gzmf,Gzmg (MGI:109253,MGI:109254,MGI:109255,MGI:109265)
chr14	24630954	24634190	14q11.2	14q12	123910	GZMB, CTLA1, CSPB	Granzyme B (cytotoxic T-lymphocyte-associated serine esterase-1; cathepsin G-like 1)	GZMB	3002	ENSG00000100453			Gzmb,Gzmc,Gzmd,Gzme,Gzmf,Gzmg,Gzmn (MGI:109253,MGI:109254,MGI:109255,MGI:109256,MGI:109265,MGI:109267,MGI:2675494)
chr14	24809454	25050147	14q12	14q12	607958	STXBP6, AMISYN, HSPC156	Syntaxin-binding protein 6	STXBP6	29091	ENSG00000168952			Stxbp6 (MGI:2384963)
chr14	26443090	26598033	14q12	14q12	602157	NOVA1	NOVA alternative splicing regulator 1	NOVA1	4857	ENSG00000139910			Nova1 (MGI:104297)
chr14	28766787	28770277	14q13	14q12	164874	FOXG1, FOXG1B, FKHL1, FKH2, QIN, BF1	Forkhead box G1B	FOXG1	2290	ENSG00000176165		Rett syndrome, congenital variant, 613454 (3), Autosomal dominant	Foxg1 (MGI:1347464)
chr14	29576479	29927847	14q12	14q12	605435	PRKD1, PRKCM, PKD, CHDED	Protein kinase D1	PRKD1	5587	ENSG00000184304		Congenital heart defects and ectodermal dysplasia, 617364 (3), Autosomal dominant	Prkd1 (MGI:99879)
chr14	30559158	30620064	14q12	14q12	611299	G2E3, KIAA1333	G2/M phase-specific E3 ubiquitin ligase	G2E3	55632	ENSG00000092140			G2e3 (MGI:2444298)
chr14	30622254	30735850	14q12	14q12	618207	SCFD1, SLY1, RA410	Sec1 family domain-containing protein 1	SCFD1	23256	ENSG00000092108			Scfd1 (MGI:1924233)
chr14	30874559	30895615	14q12-q13	14q12	603196	COCH, DFNA9, DFNB110	Cochlin	COCH	1690	ENSG00000100473	mutation identified in 1 DFNB110 family	Deafness, autosomal dominant 9, 601369 (3), Autosomal dominant; ?Deafness, autosomal recessive 110, 618094 (3), Autosomal recessive	Coch (MGI:1278313)
chr14	30893804	31026379	14q12	14q12	614766	STRN3, SG2NA	Striatin, calmodulin-binding protein 3	STRN3	29966	ENSG00000196792			Strn3 (MGI:2151064)
chr14	31025106	31096450	14q12	14q12	607243	AP4S1, CPSQ6, SPG52	Adaptor-related protein complex 4, sigma-1 subunit	AP4S1	11154	ENSG00000100478		Spastic paraplegia 52, autosomal recessive, 614067 (3), Autosomal recessive	Ap4s1 (MGI:1337065)
chr14	31100117	31207793	14q12	14q12	618649	HECTD1	HECT domain-containing E3 ubiquitin protein ligase 1	HECTD1	25831	ENSG00000092148			Hectd1 (MGI:2384768)
chr14	31482875	31488039	14q12	14q12	610118	GPR33	G protein-coupled receptor 33	GPR33	2856	ENSG00000214943			Gpr33 (MGI:1277106)
chr14	31561404	31861224	14q12	14q12	613621	NUBPL, IND1, MC1DN21	Nucleotide-binding protein-like protein	NUBPL	80224	ENSG00000151413		Mitochondrial complex I deficiency, nuclear type 21, 618242 (3), Autosomal recessive	Nubpl (MGI:1924076)
chr14	32077304	32159728	14q12	14q12	602680	ARHGAP5, RHOGAP5	RHO GTPase-activating protein 5	ARHGAP5	394	ENSG00000100852			Arhgap5 (MGI:1332637)
chr14	32329298	32837684	14q	14q12	604691	ADAP6, ADAP100	A-kinase anchor protein 6	AKAP6	9472	ENSG00000151320			Akap6 (MGI:3050566)
chr14	32900001	37400000	14q13		609408	HPE8	Holoprosencephaly 8		619406		between D14S49 and D14S1014	Holoprosencephaly 8, 609408 (2)	
chr14	32900001	50400000	14q13-q21		608831	RLS2	Restless legs syndrome, susceptibility to, 2		450097		max lod at D14S288	{Restless legs syndrome 2}, 608831 (2)	
chr14	32934785	33804173	14q13	14q13.1	609430	NPAS3, MOP6	Neuronal PAS domain protein 3	NPAS3	64067	ENSG00000151322			Npas3 (MGI:1351610)
chr14	33924227	33951074	14q13.1	14q13.1	606426	EGLN3, PHD3, HIFP4H3	egl-9 family hypoxia inducible factor 3	EGLN3	112399	ENSG00000129521			Egln3 (MGI:1932288)
chr14	34432788	34462240	14q13.1	14q13.1	613540	SPTSSA, C14orf147, SSSPTA, SPG90A, SPG90B	Serine palmitoyltransferase, small subunit, A	SPTSSA	171546	ENSG00000165389	mutation identified in 1 SPG90B patient	Spastic paraplegia 90A, autosomal dominant, 620416 (3), Autosomal dominant; ?Spastic paraplegia 90B, autosomal recessive, 620417 (3), Autosomal dominant	Sptssa (MGI:1913399)
chr14	34515938	34539701	14q13.1	14q13.1	609486	EAPP, C14orf11	E2F-associated phosphoprotein	EAPP	55837	ENSG00000129518			Eapp (MGI:1913516)
chr14	34561093	34630148	14q13.1	14q13.1	606098	SNX6	Sorting nexin 6	SNX6	58533	ENSG00000129515			Snx6 (MGI:1919433)
chr14	34709113	34714593	14q12	14q13.1	601443	CFL2, NEM7	Cofilin 2, muscle	CFL2	1073	ENSG00000165410		Nemaline myopathy 7, autosomal recessive, 610687 (3), Autosomal recessive	Cfl2 (MGI:101763)
chr14	34752731	34875360	14q12-q13	14q13.1-q13.2	605680	BAZ1A	Bromodomain adjacent to zinc finger domain, 1A	BAZ1A	11177	ENSG00000198604			Baz1a (MGI:1309478)
chr14	34982992	35029567	14q13.2	14q13.2	604857	SRP54, SCN8	Signal recognition particle, 54kD	SRP54	6729	ENSG00000100883		Neutropenia, severe congenital, 8, autosomal dominant, 618752 (3), Autosomal dominant	Srp54a,Srp54b,Srp54c (MGI:1346087,MGI:3714357,MGI:3714359)
chr14	35044907	35083383	14q13.2	14q13.2	619181	FAM177A1, C14orf24	Family with sequence similarity 177, member A1	FAM177A1	283635	ENSG00000151327			Fam177a,Fam177a2 (MGI:1920635,MGI:3714351)
chr14	35085472	35122298	14q13.2	14q13.2	615902	PPP2R3C, G5PR, MEGD, SPGF36	Protein phosphatase 2, regulatory subunit B-double prime, gamma	PPP2R3C	55012	ENSG00000092020		Spermatogenic failure 36, 618420 (3), Autosomal dominant; Myoectodermal gonadal dysgenesis syndrome, 618419 (3), Autosomal recessive	Ppp2r3c (MGI:1930009)
chr14	35121839	35277622	14q13	14q13.2	609947	PRORP, KIAA0391, COXPD54	Protein only RNase P catalytic subunit	PRORP	9692	ENSG00000100890		Combined oxidative phosphorylation deficiency 54, 619737 (3), Autosomal recessive	Prorp (MGI:1913382)
chr14	35278558	35317493	14q13	14q13.2	602855	PSMA6, PROS27, P27K	Proteasome subunit, alpha-type, 6	PSMA6	5687	ENSG00000100902		{Myocardial infarction, susceptibility to}, 608446 (3)	Psma6 (MGI:1347006)
chr14	35401513	35404749	14q13	14q13.2	164008	NFKBIA, IKBA, EDAID2	Nuclear factor kappa-B inhibitor, alpha	NFKBIA	4792	ENSG00000100906		Ectodermal dysplasia and immunodeficiency 2, 612132 (3), Autosomal dominant	Nfkbia (MGI:104741)
chr14	35534164	35537054	14q13.2	14q13.2	614027	INSM2, IA6	Insulinoma-associated 2	INSM2	84684	ENSG00000168348			Insm2 (MGI:1930787)
chr14	35538356	35809295	14q13.2	14q13.2	608884	RALGAPA1, GARNL1, TULIP1, GRIPE, KIAA0884, NEDHRIT	Ral GTPase activating protein, alpha subunit 1 (catalytic)	RALGAPA1	253959	ENSG00000174373	pseudogene on 9q31.1	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, 618797 (3), Autosomal recessive	Ralgapa1 (MGI:1931050)
chr14	35826338	35871963	14q13.2	14q13.2	618514	BRMS1L	BRMS1-like transcriptional repressor	BRMS1L	84312	ENSG00000100916			Brms1l (MGI:1196337)
chr14	36100001	43000000	14q13.3-q21.1		604461	HPV6AI1	Human papillomavirus type 6A integration site 1		3259		previously assigned to 10q24		
chr14	36134890	36176722	14q13.3	14q13.3	614821	PTCSC3	PTCSC3 gene	PTCSC3	100886964	ENSG00000259104			
chr14	36298564	36320637	14q13.3	14q13.3	609431	MBIP	MAP3K12-binding inhibitory protein	MBIP	51562	ENSG00000151332			Mbip (MGI:1918320)
chr14	36473288	36519556	14q13.3	14q13.3	617860	SFTA3, SPH	Surfactant-associated protein 3	SFTA3	253970	ENSG00000257520			
chr14	36516397	36520232	14q13	14q13.3	600635	NKX2-1, TITF1, NKX2A, TTF1, NMTC1	NK2 homeobox 1	NKX2-1	7080	ENSG00000136352		Chorea, hereditary benign, 118700 (3), Autosomal dominant; {Thyroid cancer, nonmedullary, 1}, 188550 (3), Autosomal dominant; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3), Autosomal dominant	Nkx2-1 (MGI:108067)
chr14	36580004	36582614	14q12-q13	14q13.3	603245	NKX2-8, NKX2H, NKX2.8	NK2 homeobox 8	NKX2-8	26257	ENSG00000136327			Nkx2-9 (MGI:1270158)
chr14	36657568	36679362	14q12-q13	14q13.3	167416	PAX9, STHAG3	Paired box gene 9	PAX9	5083	ENSG00000198807		Tooth agenesis, selective, 3, 604625 (3), Autosomal dominant	Pax9 (MGI:97493)
chr14	36677921	37172606	14q13.3	14q13.3	607571	SLC25A21, ODC, MTDPS18	Solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21	SLC25A21	89874	ENSG00000183032	mutation identified in 1 MTDPS18 patient	?Mitochondrial DNA depletion syndrome 18, 618811 (3), Autosomal recessive	Slc25a21 (MGI:2445059)
chr14	37197937	37552361	14q13	14q13.3-q21.1	606850	MIPOL1	MIPOL1 gene	MIPOL1	145282	ENSG00000151338			Mipol1 (MGI:1920740)
chr14	37589552	37595249	14q13	14q21.1	602294	FOXA1, HNF3A	Forkhead box A1 (hepatocyte nuclear factor-3, alpha)	FOXA1	3169	ENSG00000129514			Foxa1 (MGI:1347472)
chr14	37595629	37842717	14q21.1	14q21.1	620954	TTC6	Tetratricopeptide repeat domain-containing protein 6	TTC6	319089	ENSG00000139865			Ttc6 (MGI:2684915)
chr14	38207904	38213067	14q13	14q21.1	182451	SSTR1	Somatostatin receptor-1	SSTR1	6751	ENSG00000139874			Sstr1 (MGI:98327)
chr14	38254000	38256093	14q21.1	14q21.1	616845	CLEC14A	C-type lectin domain family 14, member A	CLEC14A	161198	ENSG00000176435			Clec14a (MGI:1914114)
chr14	39031919	39103235	14q21.1	14q21.1	610511	SEC23A, CLSD	SEC23 homolog A, coat complex II component	SEC23A	10484	ENSG00000100934		Craniolenticulosutural dysplasia, 607812 (3), Autosomal recessive, Autosomal dominant	Sec23a (MGI:1349635)
chr14	39114323	39136973	14q21.1	14q21.1	602595	GEMIN2, SIP1	GEM-associated protein 2	GEMIN2	8487	ENSG00000092208			Gemin2 (MGI:1913853)
chr14	39147814	39170333	14q21.1	14q21.1	610397	TRAPPC6B, TPC6, NEDMEBA	Trafficking protein particle complex, subunit 6B	TRAPPC6B	122553	ENSG00000182400		Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3), Autosomal recessive	Trappc6b (MGI:1925482)
chr14	39175254	39183220	Chr.14	14q21.1	603154	PNN, DRS	Pinin	PNN	5411	ENSG00000100941			Pnn (MGI:1100514)
chr14	39233915	39388522	14q	14q21.1	602132	MGEA, MEA6	Meningioma-expressed antigen 6	MIA2	4253	ENSG00000150527	?pseudogenes on other chromosomes		Mia2 (MGI:2159614)
chr14	39397684	39432433	14q13.3	14q21.1	609103	FBXO33, FBX33, BMND12	F-box only protein 33	FBXO33	254170	ENSG00000165355			Fbxo33 (MGI:1917861)
chr14	41606876	41904549	14q21.2	14q21.1	612811	LRFN5, SALM5	Leucine-rich repeat and fibronectin type III domain-containing protein 5	LRFN5	145581	ENSG00000165379			Lrfn5 (MGI:2144814)
chr14	43000001	57600000	14q21.2-q22.3		607501	MGR4, MGOA	Migraine without aura, susceptibility to, 4		338342		between D14S976 and D14S978	{Migraine without aura, susceptibility to, 4}, 607501 (2), Autosomal dominant	
chr14	44504149	44507283	14q21.3	14q21.2	611779	FSCB, C14orf155	Fibrous sheath cabyr-binding protein	FSCB	84075	ENSG00000189139			Fscb (MGI:3646964)
chr14	44962190	45074431	14q21.2	14q21.2	617618	TOGARAM1, FAM179B, KIAA0423, JBTS37	TOG array regulator of axonemal microtubules 1	TOGARAM1	23116	ENSG00000198718		Joubert syndrome 37, 619185 (3), Autosomal recessive	Togaram1 (MGI:2684313)
chr14	45084116	45116282	14q21.2	14q21.2	614907	PRPF39	Pre-mRNA processing factor 39	PRPF39	55015	ENSG00000185246			Prpf39 (MGI:104602)
chr14	45115599	45134481	14q21.2	14q21.2	186947	FKBP3, FKBP25	FK506-binding protein 3	FKBP3	2287	ENSG00000100442			Fkbp3 (MGI:1353460)
chr14	45135930	45200890	14q21.3	14q21.2	609644	FANCM, KIAA1596, SPGF28, POF15	FANCM gene	FANCM	57697	ENSG00000187790		Premature ovarian failure 15, 618096 (3), Autosomal recessive; Spermatogenic failure 28, 618086 (3), Autosomal recessive	Fancm (MGI:2442306)
chr14	45203190	45253202	14q21.2	14q21.2	618139	MIS18BP, C14orf106	Mis18-binding protein 1	MIS18BP1	55320	ENSG00000129534			Mis18bp1 (MGI:2145099)
chr14	46651010	46651781	14q21.2	14q21.2	619655	RPL10L, SPGF63	Ribosomal protein L10-like	RPL10L	140801	ENSG00000165496	mutation identified in 1 SPGF63 family	?Spermatogenic failure 63, 619689 (3), Autosomal recessive	Rpl10l (MGI:3647985)
chr14	46839623	47675605	14q21	14q21.3	611128	MDGA2	MAM domain-containing glycosylphosphatidylinositol anchor 2	MDGA2	161357	ENSG00000139915			Mdga2 (MGI:2444706)
chr14	49570988	49598710	14q	14q21.3	603633	RPS29, DBA13	Ribosomal protein S29	RPS29	6235	ENSG00000213741		Diamond-Blackfan anemia 13, 615909 (3), Autosomal dominant	Rps29 (MGI:107681)
chr14	49586580	49586878	14q22.1	14q21.3	612177	RN7SL1, 7SL, 7L1A	RNA, 7SL, cytoplasmic 1	RN7SL1	6029	ENSG00000276168			
chr14	49598940	49614672	14q21.3	14q21.3	609193	LRR1, PPIL5	Leucine rich repeat protein 1	LRR1	122769	ENSG00000165501			Lrr1 (MGI:1916956)
chr14	49618530	49620626	Chr.14	14q21.3	180469	RPL36AL, RPL36A	Ribosomal protein L36a-like	RPL36AL	6166	ENSG00000165502			Rpl36al (MGI:1913733)
chr14	49620799	49623481	14q21	14q21.3	602616	MGAT2, CDGS2, CDG2A	Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyl- transferase	MGAT2	4247	ENSG00000168282		Congenital disorder of glycosylation, type IIa, 212066 (3), Autosomal recessive	Mgat2 (MGI:2384966)
chr14	49625174	49635244	14q21.3	14q21.3	612517	DNAAF2, KTU, C14orf104, CILD10	Dynein, axonemal, assembly factor 2	DNAAF2	55172	ENSG00000165506		Ciliary dyskinesia, primary, 10, 612518 (3), Autosomal recessive	Dnaaf2 (MGI:1923566)
chr14	49643555	49688214	14q13-q21	14q21.3	602670	POLE2, DPE2	Polymerase, DNA, epsilon-2	POLE2	5427	ENSG00000100479			Pole2 (MGI:1197514)
chr14	49693120	49753150	14q21.3	14q21.3	611281	KLHDC1	Kelch domain-containing protein 1	KLHDC1	122773	ENSG00000197776			Klhdc1 (MGI:2672853)
chr14	49768153	49786385	14q21.3	14q21.3	611280	KLHDC2, HCLP1	Kelch domain-containing protein 2	KLHDC2	23588	ENSG00000165516			Klhdc2 (MGI:1916804)
chr14	49782083	49852788	14q22	14q21.3	608378	NEMF, SDCCAG1, IDDSAPN	Nuclear export mediator factor	NEMF	9147	ENSG00000165525		Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, 619099 (3), Autosomal recessive	Nemf (MGI:1918305)
chr14	49853616	49853914	14q22.1	14q21.3	612180	RN7SL3	RNA, 7SL, cytoplasmic 3	RN7SL3	378707	ENSG00000278771			
chr14	49862551	49862849	14q22.1	14q21.3	612179	RN7SL2, 7L1C	RNA, 7SL, cytoplasmic 2	RN7SL2	378706	ENSG00000274012			
chr14	49893082	49897054	14q21.3	14q21.3	600464	ARF6	ADP-ribosylation factor 6	ARF6	382	ENSG00000165527			Arf6 (MGI:99435)
chr14	50102716	50116572	14q21.3	14q21.3	615260	VCPKMT, METTL21D, C14orf138	Valosin-containing protein lysine methyltransferase	VCPKMT	79609	ENSG00000100483			Vcpkmt (MGI:2684917)
chr14	50117130	50231882	14q21	14q21.3	601247	SOS2, NS9	SOS Ras/Rac guanine nucleotide exchange factor 2	SOS2	6655	ENSG00000100485		Noonan syndrome 9, 616559 (3), Autosomal dominant	Sos2 (MGI:98355)
chr14	50242434	50312229	14q22.1	14q21.3	609584	L2HGDH, C14orf160, L2HGA	L-2-hydroxyglutarate dehydrogenase	L2HGDH	79944	ENSG00000087299		L-2-hydroxyglutaric aciduria, 236792 (3), Autosomal recessive	L2hgdh (MGI:2384968)
chr14	50311516	50327957	14q21.3	14q21.3	618579	DMAC2L, ATP5S, FB	Distal membrane arm assembly complex 2-like protein	DMAC2L	27109	ENSG00000125375			Dmac2l (MGI:1915305)
chr14	50326265	50397298	14q21.3	14q21.3	603441	CDKL1, KKIALRE, p42	Cyclin-dependent kinase-like 1	CDKL1	8814	ENSG00000100490			Cdkl1 (MGI:1918341)
chr14	50400001	67400000	14q22-q23		115650	CTRCT32, CTAA1, CAP, CTPP5	Cataract 32, multiple types		1483		between D14S980 and D14S1069	Cataract 32, multiple types, 115650 (2), Autosomal dominant	
chr14	50400001	57600000	14q22.1-q22.3		609640	FRIASS, DEL14q22, C14DELq22	Frias syndrome				deletion spans 4.1 Mb on 14q22.1-q22.3	Frias syndrome, 609640 (4), Autosomal dominant	
chr14	50400001	73300000	14q22.1-q24.2		255500	MYP18	Myopia 18		100359406		between D14S984 and D14S999	Myopia 18, 255500 (2), Autosomal recessive	
chr14	50533082	50633068	14q11-q21	14q22.1	606439	ATL1, SPG3A, HSN1D	Atlastin GTPase 1	ATL1	51062	ENSG00000198513		Spastic paraplegia 3A, autosomal dominant, 182600 (3), Autosomal dominant; Neuropathy, hereditary sensory, type ID, 613708 (3), Autosomal dominant	Atl1 (MGI:1921241)
chr14	50418521	50561126	Chr.14	14q22.1	604923	MAP4K5, MAPKKKK5	Mitogen-activated protein kinase kinase kinase kinase-5	MAP4K5	11183	ENSG00000012983			Map4k5 (MGI:1925503)
chr14	50633580	50668306	14q22.1	14q22.1	607203	SAV1, WW45, SAV	Salvador family WW domain containing protein 1	SAV1	60485	ENSG00000151748			Sav1 (MGI:1927144)
chr14	50719763	50831503	14q22.1	14q22.1	608684	NIN, KIAA1565, SCKL7	Ninein	NIN	51199	ENSG00000100503	mutation identified in 1 SCKL7 family	?Seckel syndrome 7, 614851 (3), Autosomal recessive	Nin (MGI:105108)
chr14	50905217	50944483	14q22.1	14q22.1	613741	PYGL	Phosphorylase, glycogen, liver	PYGL	5836	ENSG00000100504		Glycogen storage disease VI, 232700 (3), Autosomal recessive	Pygl (MGI:97829)
chr14	50975266	51095105	14q21-q24	14q22.1	606555	TRIM9, SPRING, KIAA0282	Tripartite motif-containing protein 9	TRIM9	114088	ENSG00000100505			Trim9 (MGI:2137354)
chr14	51240247	51257655	14q22.1	14q22.1	610527	TMX1, TXNDC1, TMX	Thioredoxin-related transmembrane protein 1	TMX1	81542	ENSG00000139921			Tmx1 (MGI:1919986)
chr14	51396431	51730727	14q22.1	14q22.1	614555	FRMD6, WILLIN, C14orf31	FERM domain-containing protein 6	FRMD6	122786	ENSG00000139926			Frmd6 (MGI:2442579)
chr14	51826174	51969795	14q21	14q22.1	606981	GNG2	Guanine nucleotide-binding protein, gamma-2	GNG2	54331	ENSG00000186469			Gng2 (MGI:102705)
chr14	51989546	52010694	14q22.1	14q22.1	610858	C14orf166, CGI99	Chromosome 14 open reading frame 166	RTRAF	51637	ENSG00000087302			Rtraf (MGI:1915295)
chr14	52004809	52069059	Chr.14	14q22.1	605399	NID2	Nidogen 2	NID2	22795	ENSG00000087303			Nid2 (MGI:1298229)
chr14	52267698	52280914	14q22.1	14q22.1	604687	PTGDR, AS1, ASRT1	Prostaglandin D2 receptor	PTGDR	5729	ENSG00000168229		{Asthma, susceptibility to, 1}, 607277 (3)	Ptgdr (MGI:102966)
chr14	52314312	52328598	14q22	14q22.1	176804	PTGER2	Prostaglandin E receptor 2, EP2 subtype, 53kD	PTGER2	5732	ENSG00000125384		{Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive	Ptger2 (MGI:97794)
chr14	52430596	52552505	14q22.1	14q22.1	616179	TXNDC16, KIAA1344	Thioredoxin domain-containing protein 16	TXNDC16	57544	ENSG00000087301			Txndc16 (MGI:1917811)
chr14	52639915	52695558	14q22.1	14q22.1	615435	ERO1L, ERO1LA	Endoplasmic reticulum oxidoreduction 1-like	ERO1A	30001	ENSG00000197930			Ero1a (MGI:1354385)
chr14	52707200	52728590	14q22.1	14q22.1	602708	PSMC6	Proteasome 26S subunit, ATPase, 6	PSMC6	5706	ENSG00000100519	previously assigned to 12q15 by FISH		Psmc6 (MGI:1914339)
chr14	52730166	52774989	14q22.1	14q22.1	615814	STYX	Serine/threonine/tyrosine-interacting protein	STYX	6815	ENSG00000198252			Styx,Styx-ps (MGI:1891150,MGI:3709613)
chr14	52775193	52791607	14q22.1	14q22.1	616510	GNPNAT1, GNA1, RHZDAN	Glucosamine-phosphate N-acetyltransferase 1	GNPNAT1	64841	ENSG00000100522	mutation identified 1 RHZDAN family	?Rhizomelic dysplasia, Ain-Naz type, 619598 (3), Autosomal recessive	Gnpnat1 (MGI:1858963)
chr14	52857273	52951050	14q22.1	14q22.1	607746	FERMT2, PLEKHC1, MIG2, UNC112, KIND2	FERM domain-containing kindlin 2	FERMT2	10979	ENSG00000073712			Fermt2 (MGI:2385001)
chr14	53036755	53153323	14q22.1	14q22.1	614603	DDHD1, PAPLA1, KIAA1705, SPG28	DDHD domain-containing protein 1	DDHD1	80821	ENSG00000100523		Spastic paraplegia 28, autosomal recessive, 609340 (3), Autosomal recessive	Ddhd1 (MGI:2150302)
chr14	53600001	55000000	14q22.2		612589	CRCS8	Colorectal cancer, susceptibility to, 8		100271690		associated with rs4444235	{Colorectal cancer, susceptibility to, 8}, 612589 (2)	
chr14	53949736	53956891	14q22.2	14q22.2	112262	BMP4, BMP2B1, BMP2B, MCOPS6, OFC11	Bone morphogenetic protein-4	BMP4	652	ENSG00000125378		Orofacial cleft 11, 600625 (3), Autosomal dominant; Microphthalmia, syndromic 6, 607932 (3), Autosomal dominant	Bmp4 (MGI:88180)
chr14	54397007	54420218	14q22	14q22.2	123832	CDKN3	Cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase)	CDKN3	1033	ENSG00000100526			Cdkn3 (MGI:1919641)
chr14	54423561	54441374	14q22.2	14q22.2	611287	CNIH, TGAM77	Cornichon, Drosophila, homolog of	CNIH1	10175	ENSG00000100528			Cnih1 (MGI:1277202)
chr14	54474485	54488980	14q22.2	14q22.2	601713	GMFB, GMF	Glia maturation factor, beta	GMFB	2764	ENSG00000197045			Gmfb (MGI:1927133)
chr14	54509906	54539292	14q22.1	14q22.2	606138	GCRRF1, CGR19	Cell growth regulator with ring finger domain 1	CGRRF1	10668	ENSG00000100532			Cgrrf1 (MGI:1916368)
chr14	54565316	54793315	14q22.2	14q22.2	610747	SAMD4A, SMAUG1, KIAA1053	Sterile alpha motif domain-containing 4A	SAMD4A	23034	ENSG00000020577			Samd4 (MGI:1921730)
chr14	54842017	54902826	14q22.1-q22.2	14q22.2	600225	GCH1, DYT5, HPABH4B	GTP cyclohydrolase 1	GCH1	2643	ENSG00000131979		Dystonia, DOPA-responsive, 128230 (3), Autosomal recessive, Autosomal dominant; Hyperphenylalaninemia, BH4-deficient, B, 233910 (3), Autosomal recessive	Gch1 (MGI:95675)
chr14	54938949	55027099	14q22.2	14q22.2-q22.3	608126	WDHD1, AND1	WD repeat and HMG-box DNA binding protein 1	WDHD1	11169	ENSG00000198554			Wdhd1 (MGI:2443514)
chr14	55027236	55049489	14q22.3	14q22.3	616337	SOCS4, SOCS7	Suppressor of cytokine signaling 4	SOCS4	122809	ENSG00000180008			Socs4 (MGI:1914546)
chr14	55051647	55070194	14q22.3	14q22.3	617226	MAP1IP1L, MISS	Mitogen-activated protein kinase 1-interacting protein 1-like protein	MAPK1IP1L	93487	ENSG00000168175			Mapk1ip1l (MGI:2444022)
chr14	55129252	55145430	14q21-q22	14q22.3	153619	LGALS3, MAC2, GALBP	Lectin, galactose-binding, soluble, 3	LGALS3	3958	ENSG00000131981	assigned earlier to 1p13		Lgals3 (MGI:96778)
chr14	55148135	55191585	14q22.3	14q22.3	617859	DLGAP5, DLG7, HURP, KIAA0008	Discs large-associated protein 5	DLGAP5	9787	ENSG00000126787			Dlgap5 (MGI:2183453)
chr14	55229193	55229936	14q24.3	14q22.3	600012	UBE2L1, UBCL, UBC4	Ubiquitin-conjugating enzyme E2 L1 (pseudogene)	UBE2L1	283556				
chr14	55271421	55443049	14q22.2	14q22.3	609104	FBXO34, FBX34	F-box only protein 34	FBXO34	55030	ENSG00000178974			Fbxo34 (MGI:1926188)
chr14	55366391	55411830	14q22.3	14q22.3	613515	ATG14, ATG14L, KIAA0831, BARKOR	Autophagy related 14	ATG14	22863	ENSG00000126775			Atg14 (MGI:1261775)
chr14	55414210	55440616	14q22.3	14q22.3	608964	TBPL2, TRF3	TATA box-binding protein-like protein 2	TBPL2	387332	ENSG00000182521			Tbpl2 (MGI:2684058)
chr14	55580207	55684584	14q22	14q22.3	600381	KTN1, CG1	Kinectin	KTN1	3895	ENSG00000126777			Ktn1 (MGI:109153)
chr14	55781135	55796674	14q22.3	14q22.3	620533	LINC00520, LEENE, LASSIE	Long intergenic noncoding RNA 520	LINC00520	645687	ENSG00000258791			
chr14	56118411	56301524	14q21	14q22.3	614798	PELI2	Pellino, Drosophila, homolog of, 2	PELI2	57161	ENSG00000139946			Peli2 (MGI:1891445)
chr14	56579525	56663165	14q22.3	14q22.3	617449	TMEM260, C14orf101, SHDRA	Transmembrane protein 260	TMEM260	54916	ENSG00000070269		Structural heart defects and renal anomalies syndrome, 617478 (3), Autosomal recessive	Tmem260 (MGI:2443219)
chr14	56799905	56810479	14q22.3	14q22.3	600037	OTX2, MCOPS5, CPHD6	Orthodenticle homeobox 2	OTX2	5015	ENSG00000165588		Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3), Autosomal dominant; Pituitary hormone deficiency, combined, 6, 613986 (3), Autosomal dominant; Microphthalmia, syndromic 5, 610125 (3), Autosomal dominant	Otx2 (MGI:97451)
chr14	57200507	57268905	14q22.3	14q22.3	604469	EXOC5, SEC10L1	Exocyst complex component 5	EXOC5	10640	ENSG00000070367			Exoc5 (MGI:2145645)
chr14	57268971	57298742	14q22.3	14q22.3	614368	AP5M1, MUDENG, MUD, C14orf108	Adaptor-related protein complex 5, mu-1 subunit	AP5M1	55745	ENSG00000053770			Ap5m1 (MGI:1921635)
chr14	57390586	57415906	14q22.3	14q22.3	617989	NAA30, NAT12, MAK3, C14orf35	N-alpha-acetyltransferase 30, NatC catalytic subunit	NAA30	122830	ENSG00000139977			Naa30 (MGI:1922259)
chr14	57600001	67400000	14q23		612162	ANIB8	Aneurysm, intracranial berry, 8		100188886		associated with rs767603	Aneurysm, intracranial berry, 8, 612162 (2)	
chr14	57600001	67400000	14q23		606972	EIG2	Epilepsy, idiopathic generalized, susceptibility to, 2		353124			{Epilepsy, idiopathic generalized, susceptibility to, 2}, 606972 (2)	
chr14	58200149	58235636	14q23.1	14q23.1	619731	ACTR10, ARP11	Actin-related protein 10	ACTR10	55860	ENSG00000131966			Actr10 (MGI:1891654)
chr14	58244843	58272004	14q23	14q23.1	176843	PSMA3	Proteasome (prosome, macropain) subunit, alpha type, 3	PSMA3	5684	ENSG00000100567			Psma3 (MGI:104883)
chr14	58298555	58373876	14q23.1	14q23.1	180201	ARID4A, RBP1, RBBP1	AT-rich interactive domain-containing protein 4A	ARID4A	5926	ENSG00000032219			Arid4a (MGI:2444354)
chr14	58408494	58427531	14q21	14q23.1	607384	TIMM9, TIM9	Translocase of inner mitochondrial membrane 9	TIMM9	26520	ENSG00000100575			Timm9 (MGI:1353436)
chr14	58427400	58562090	14q23.1	14q23.1	610178	KIAA0586, TALPID3, JBTS23, SRTD14	KIAA0586 gene	KIAA0586	9786	ENSG00000100578		Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive; Joubert syndrome 23, 616490 (3), Autosomal recessive	2700049A03Rik (MGI:1924217)
chr14	58634061	58648321	14q22.3	14q23.1	607861	DACT1, DPR1, DAPPER1, FRODO, TBS2	Dapper, antagonist of beta-catenin, 1	DACT1	51339	ENSG00000165617		Townes-Brocks syndrome 2, 617466 (3), Autosomal dominant	Dact1 (MGI:1891740)
chr14	59188667	59371405	14q23.1	14q23.1	606626	DAAM1, KIAA0666	Dishevelled-associated activator of morphogenesis 1	DAAM1	23002	ENSG00000100592			Daam1 (MGI:1914596)
chr14	59452783	59465380	14q23.1	14q23.1	607970	GPR135	G protein-coupled receptor 135	GPR135	64582	ENSG00000181619			Gpr135 (MGI:2676315)
chr14	59465478	59505273	14q23.1	14q23.1	614811	L3HYPDH, C14orf149	L-3-hydroxyproline dehydratase, trans	L3HYPDH	112849	ENSG00000126790			L3hypdh (MGI:1914467)
chr14	59484517	59505410	14q23.1	14q23.1	611176	JKAMP, C24orf100, JAMP	JNK1/MAPK8-associated membrane protein	JKAMP	51528	ENSG00000050130			Jkamp (MGI:1915057)
chr14	59595976	59870776	14q21-q22	14q23.1	600865	RTN1, NSP	Reticulon 1 (neuroendocrine-specific protein)	RTN1	6252	ENSG00000139970			Rtn1 (MGI:1933947)
chr14	60144119	60169889	14q23.1	14q23.1	612833	DHRS7, RETSDR4	Short-chain dehydrogenase/reductase family, member 7	DHRS7	51635	ENSG00000100612			Dhrs7,Dhrs7l (MGI:1913625,MGI:3644906)
chr14	60245750	60299087	14q23.1	14q23.1	606108	PPM1A, PP2CA	Protein phosphatase, magnesium/manganese-dependent, 1A	PPM1A	5494	ENSG00000100614			Ppm1a (MGI:99878)
chr14	60435956	60515544	14q23.1	14q23.1	617307	C14orf39, SIX6OS1, SPGF52, POF18	Chromosome 14 open reading frame 39	C14orf39	317761	ENSG00000179008	mutation identified in 1 POF18 patient	Spermatogenic failure 52, 619202 (3), Autosomal recessive; ?Premature ovarian failure 18, 619203 (3), Autosomal recessive	4930447C04Rik (MGI:1923051)
chr14	60509146	60512850	14q23	14q23.1	606326	SIX6, ODRMD	SIX homeobox 6	SIX6	4990	ENSG00000184302		Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3), Autosomal recessive	Six6 (MGI:1341840)
chr14	60643421	60649477	14q23	14q23.1	601205	SIX1, BOS3, DFNA23	SIX homeobox 1	SIX1	6495	ENSG00000126778		Deafness, autosomal dominant 23, 605192 (3), Autosomal dominant; Branchiootic syndrome 3, 608389 (3), Autosomal dominant	Six1 (MGI:102780)
chr14	60709539	60724351	14q23	14q23.1	606342	SIX4	SIX homeobox 4	SIX4	51804	ENSG00000100625			Six4 (MGI:106034)
chr14	60734761	60969965	14q23	14q23.1	602659	MNAT1, MAT1	Menage a trois 1	MNAT1	4331	ENSG00000020426			Mnat1 (MGI:106207)
chr14	60971441	60981690	14q23.1	14q23.1	611023	TRMT5, TRM5, KIAA1393, PNSED	tRNA methyltransferase 5	TRMT5	57570	ENSG00000126814		Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, 616539 (3), Autosomal recessive	Trmt5 (MGI:1923607)
chr14	60981245	61083733	14q23.1	14q23.1	616518	SLC38A6, SNAT6	Solute carrier family 38 (amino acid transporter), member 6	SLC38A6	145389	ENSG00000139974			Slc38a6 (MGI:3648156)
chr14	61187468	61550976	14q22-q23	14q23.1	605437	PRKCH, PKCL, PRKCL	Protein kinase C, eta	PRKCH	5583	ENSG00000027075		{Cerebral infarction, susceptibility to}, 601367 (3), Multifactorial	Prkch (MGI:97600)
chr14	61277370	61281338	14q23.1	14q23.1	611029	TMEM30B, CDC50B	Transmembrane protein 30B	TMEM30B	161291	ENSG00000182107			Tmem30b (MGI:2442082)
chr14	61600001	64300000	14q23.2		609113	TELM	Telomere length, mean leukocyte		550641		suggestive QTL on 12, 10q, 3p	[Telomere length, mean leukocyte], 609113 (2)	
chr14	61681041	61695823	14q23.2	14q23.2	614528	HIF1AAS1	HIF1A antisense RNA 1	HIF1A-AS1	100750246				
chr14	61695513	61748258	14q21-q24	14q23.2	603348	HIF1A, MOP1	Hypoxia-inducible factor 1, alpha subunit	HIF1A	3091	ENSG00000100644			Hif1a (MGI:106918)
chr14	61747039	61749089	14q23.2	14q23.2	614529	HIF1AAS2	HIF1A antisense RNA 2	HIF1A-AS2	100750247				
chr14	61762420	61796428	14q23.2	14q23.2	600591	SNAPC1, SNAP43	Small nuclear RNA-activating protein complex, polypeptide 1	SNAPC1	6617	ENSG00000023608			Snapc1 (MGI:1922877)
chr14	61812162	62112825	14q23.1	14q23.2	610950	SYT16, STREP14	Synaptotagmin 16	SYT16	83851	ENSG00000139973			Syt16 (MGI:2673872)
chr14	62699464	63045458	14q23.2	14q23.2	605716	KCNH5, DEE112	Potassium voltage-gated channel, subfamily H, member 5	KCNH5	27133	ENSG00000140015		Developmental and epileptic encephalopathy 112, 620537 (3), Autosomal dominant	Kcnh5 (MGI:3584508)
chr14	63204443	63293508	14q23.2	14q23.2	607653	RHOJ, ARHJ, TCL	Ras homolog gene family, member J	RHOJ	57381	ENSG00000126785			Rhoj (MGI:1931551)
chr14	63312835	63318935	14q23.2	14q23.2	609652	GPHB5, GPB5	Glycoprotein hormone, beta-5	GPHB5	122876	ENSG00000179600			Gphb5 (MGI:2156540)
chr14	63371364	63543377	14q23.1	14q23.2	601647	PPP2R5E	Protein phosphatase-2, regulatory subunit B (B56), epsilon isoform	PPP2R5E	5529	ENSG00000154001	incorrectly assigned to 7p12-p11.2 by FISH		Ppp2r5e (MGI:1349473)
chr14	63684216	63728065	14q22.1	14q23.2	612826	SGPP1, SPPASE1	Sphingosine-1-phosphate phosphatase 1	SGPP1	81537	ENSG00000126821			Sgpp1 (MGI:2135760)
chr14	63761596	64226449	14q23	14q23.2	608442	SYNE2, NUANCE, KIAA1011, EDMD5	Spectrin repeat-containing nuclear envelope protein 2 (nesprin 2)	SYNE2	23224	ENSG00000054654		Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3), Autosomal dominant	Syne2 (MGI:2449316)
chr14	64226707	64338613	14q	14q23.2-q23.3	601663	ESR2, ODG8	Estrogen receptor-2 (ER beta)	ESR2	2100	ENSG00000140009	mutation identified in 1 ODG8 patient	?Ovarian dysgenesis 8, 618187 (3), Autosomal dominant	Esr2 (MGI:109392)
chr14	64388353	64460025	14q24	14q23.3	172460	MTHFD1, MTHFC, CIMAH	Methylenetetrahydrofolate dehydrogenase 1	MTHFD1	4522	ENSG00000100714	trifunctional protein	{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive	Mthfd1 (MGI:1342005)
chr14	64449106	64505213	14q23-q24	14q23.3	194541	ZBTB25, ZNF46, KUP	Zinc finger and BTB domain containing 25	ZBTB25	7597	ENSG00000089775			Zbtb25 (MGI:99197)
chr14	64465499	64474503	14q23.3	14q23.3	604688	AKAP5, AKAP79	A-kinase anchor protein 5	AKAP5	9495	ENSG00000179841			Akap5 (MGI:2685104)
chr14	64503716	64533693	14q23.3	14q23.3	616578	ZBTB1	Zinc finger- and BTB domain-containing protein 1	ZBTB1	22890	ENSG00000126804			Zbtb1 (MGI:2442326)
chr14	64535905	64543237	14q24.1	14q23.3	140560	HSPA2	Heat-shock 70kD protein-2	HSPA2	3306	ENSG00000126803			Hspa2 (MGI:96243)
chr14	64549961	64589381	14q23.3	14q23.3	619923	PPP1R36	Protein phosphatase 1, regulatory subunit 36	PPP1R36	145376	ENSG00000165807			Ppp1r36 (MGI:2684916)
chr14	64704424	64750249	14q23.3	14q23.3	617940	PLEKHG2, ARHGEF43, KIAA0599	Pleckstrin homology domain- and RhoGEF domain-containing protein G3	PLEKHG3	26030	ENSG00000126822			Plekhg3 (MGI:2388284)
chr14	64746283	64879907	14q23.3	14q23.3	182870	SPTB, SPH2, EL3, HS2	Spectrin, beta, erythrocytic	SPTB	6710	ENSG00000070182		Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3), Autosomal recessive, Autosomal dominant; Elliptocytosis-3, 617948 (3), Autosomal recessive, Autosomal dominant; Spherocytosis, type 2, 616649 (3), Autosomal dominant	Sptb (MGI:98387)
chr14	64914455	64935368	14q23.3	14q23.3	608577	CHURC1, CHCH, C14orf52	Churchill domain-containing 1	CHURC1	91612	ENSG00000258289			Churc1 (MGI:1923684)
chr14	64939158	64942745	14q24.1	14q23.3	138319	GPX2	Glutathione peroxidase-2, gastrointestinal	GPX2	2877	ENSG00000176153			Gpx2 (MGI:106609)
chr14	64945816	64972336	14q23.3	14q23.3	619547	RAB15	RAB15, member Ras oncogene family	RAB15	376267	ENSG00000139998			Rab15 (MGI:1916865)
chr14	64986895	65062650	14q23-q24	14q23.3	134636	FNTB	Farnesyltransferase, CAAX box, beta	FNTB	2342	ENSG00000257365	related FNTBL1 on 9		Fntb (MGI:1861305)
chr14	65006101	65102695	14q23	14q23.3	154950	MAX, PDMCS	MYC associated factor X	MAX	4149	ENSG00000125952	interacts with MYC	Polydactyly-macrocephaly syndrome, 620712 (3), Autosomal dominant; {Pheochromocytoma, susceptibility to}, 171300 (3), Autosomal dominant	Max (MGI:96921)
chr14	65356842	65744121	14q23	14q23.3	602589	FUT8, CDGF1	Fucosyltransferase 8	FUT8	2530	ENSG00000033170		Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3), Autosomal recessive	Fut8 (MGI:1858901)
chr14	66508147	67735355	14q24	14q23.3-q24.1	603930	GPHN, GPH, KIAA1385, GEPH, MOCODC	Gephyrin	GPHN	10243	ENSG00000171723		Molybdenum cofactor deficiency C, 615501 (3), Autosomal recessive	Gphn (MGI:109602)
chr14	67189440	67228558	14q23.3	14q23.3	619898	GARIN2, FAM71D, C14orf54	Golgi-associated Rab2 interactor family, member 2	GARIN2	161142	ENSG00000172717			Garin2 (MGI:1918147)
chr14	67241435	67336061	14q23.3	14q23.3	606958	MPP5, PALS1	Membrane protein, palmitoylated 5	PALS1	64398	ENSG00000072415			Pals1 (MGI:1927339)
chr14	67337872	67359804	14q24	14q23.3	609398	ATP6V1D, ATP6M	ATPase, H+ transporting, V1 subunit D	ATP6V1D	51382	ENSG00000100554			Atp6v1d (MGI:1921084)
chr14	67360328	67386516	14q23.3	14q23.3	603907	EIF2S1	Eukaryotic translation initiation factor 2, subunit 1	EIF2S1	1965	ENSG00000134001			Eif2s1 (MGI:95299)
chr14	67386984	67412165	14q23.3	14q23.3-q24.1	608007	PLEK2	Pleckstrin 2	PLEK2	26499	ENSG00000100558			Plek2 (MGI:1351466)
chr14	67470269	67533850	14q24.1	14q24.1	619022	TMEM229B	Transmembrane protein 229B	TMEM229B	161145	ENSG00000198133			Tmem229b (MGI:2444389)
chr14	67589306	67600301	14q24.1	14q24.1	600154	PIGH	Phosphatidylinositol glycan, class H	PIGH	5283	ENSG00000100564		Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3), Autosomal recessive	Pigh (MGI:99463)
chr14	67619920	67651708	14q24.1-q24.3	14q24.1	107830	ARG2	Arginase II	ARG2	384	ENSG00000081181			Arg2 (MGI:1330806)
chr14	67647085	67674632	14q24.1	14q24.1	603207	VTI1B, VTI1, VTI1L	Vesicle transport through interaction with T-snares 1B	VTI1B	10490	ENSG00000100568			Vti1b (MGI:1855688)
chr14	67676800	67695764	14q23.3	14q24.1	607849	RDH11, PSDR1, RALR1, RDJCSS	Retinol dehydrogenase 11	RDH11	51109	ENSG00000072042	mutation identified in 1 RDJCSS family	?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3), Autosomal recessive	Rdh11 (MGI:102581)
chr14	67701886	67734451	14q23.3	14q24.1	608830	RDH12, LCA13	Retinol dehydrogenase 12	RDH12	145226	ENSG00000139988	near RDH11	Leber congenital amaurosis 13, 612712 (3), Autosomal recessive, Autosomal dominant	Rdh12 (MGI:1925224)
chr14	67728892	67816590	14q24.1	14q24.1	612012	ZFYVE26, KIAA0321, SPG15	Zinc finger FYVE domain-containing protein 26	ZFYVE26	23503	ENSG00000072121		Spastic paraplegia 15, autosomal recessive, 270700 (3), Autosomal recessive	Zfyve26 (MGI:1924767)
chr14	67819779	68683096	14q23.3-q24	14q24.1	602948	RAD51B, RAD51L1	RAD51 paralog B	RAD51B	5890	ENSG00000182185	fused with HMGA2 in uterine leiomyoma		Rad51b (MGI:1099436)
chr14	68787655	68796243	14q22-q24	14q24.1	601064	ZFP36L1, BRF1, ERF1	Zinc finger protein 36, C3H type-like 1 (butyrate response factor 1; EGF-response factor 1)	ZFP36L1	677	ENSG00000185650			Zfp36l1 (MGI:107946)
chr14	68874128	68979302	14q24.1	14q24.1	102575	ACTN1, BDPLT15	Actinin, alpha-1	ACTN1	87	ENSG00000072110		Bleeding disorder, platelet-type, 15, 615193 (3), Autosomal dominant	Actn1 (MGI:2137706)
chr14	69050881	69153197	14q24.1-q24.2	14q24.1	603812	DCAF5, WDR22, BCRP2, D14S1461E	DDB1- and CUL4-associated factor 5	DCAF5	8816	ENSG00000139990			Dcaf5 (MGI:2444785)
chr14	69191498	69244018	14q24.1	14q24.1	616940	EXD2, EXDL2	Exonuclease 3'-to-5' domain-containing protein 2	EXD2	55218	ENSG00000081177			Exd2 (MGI:1922485)
chr14	69259631	69386337	14q24.1	14q24.1	615132	GALNT16, GALNACT16, GALNTL1, KIAA1130	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16	GALNT16	57452	ENSG00000100626			Galnt16 (MGI:1917754)
chr14	69380128	69398299	14q24.1	14q24.1	601191	ERH	ERH mRNA splicing and mitosis factor	ERH	2079	ENSG00000100632	possible pseudogene on 7q34		Erh,Erhrt-ps (MGI:108089,MGI:3704308)
chr14	69398384	69462390	14q24.1	14q24.1	619116	SLC39A9, ZIP9	Solute carrier family 39 (zinc transporter), member 9	SLC39A9	55334	ENSG00000029364			Slc39a9 (MGI:1914820)
chr14	69611596	69715144	14q24.1	14q24.1	616761	SUSD6, DRAGO, KIAA0247	SUSHI domain-containing protein 6	SUSD6	9766	ENSG00000100647			Susd6 (MGI:2444661)
chr14	69767142	69772005	14q24.2	14q24.1	600914	SRSF5, SFRS5, SRp40	Splicing factor, serine/arginine-rich, 5	SRSF5	6430	ENSG00000100650			Srsf5 (MGI:98287)
chr14	69775416	69797241	14q24.1	14q24.1	182396	SLC10A1, NTCP1, FHCA2	Solute carrier family 10 (sodium/bile acid cotransporter family), member 1	SLC10A1	6554	ENSG00000100652		Hypercholanemia, familial 2, 619256 (3), Autosomal recessive	Slc10a1 (MGI:97379)
chr14	69879416	70032366	14q24.1	14q24.2	608488	SMOC1, OAS	SPARC-related modular calcium-binding 1	SMOC1	64093	ENSG00000198732		Microphthalmia with limb anomalies, 206920 (3), Autosomal recessive	Smoc1 (MGI:1929878)
chr14	70044215	70189405	14q24.2	14q24.2	607991	SLC8A3, NCX3	Solute carrier family 8 (sodium-calcium exchanger), member A3	SLC8A3	6547	ENSG00000100678			Slc8a3 (MGI:107976)
chr14	70325081	70359683	14q24.1	14q24.2	618064	COX16, MC4DN22	Cytochrome c oxidase assembly factor 16	COX16	51241	ENSG00000133983		Mitochondrial complex IV deficiency, nuclear type 22, 619355 (3), Autosomal recessive	Cox16 (MGI:1913522)
chr14	70366499	70417090	14q24.2	14q24.2	609411	SYNJ2BP, OMP25, ARIP2	Synaptojanin 2-binding protein	SYNJ2BP	55333	ENSG00000213463			S2bpcox16,Synj2bp (MGI:1344347,MGI:5141963)
chr14	70452174	70459905	14q24.1	14q24.2	603713	ADAM21	ADAM metallopeptidase domain 21	ADAM21	8747	ENSG00000139985			Adam21 (MGI:1861229)
chr14	70522358	70579452	14q24.1	14q24.2	603712	ADAM20	ADAM metallopeptidase domain 20	ADAM20	8748	ENSG00000134007			Adam20,Adam25,Adam39 (MGI:1345157,MGI:2152342,MGI:3045694)
chr14	70583221	70600655	14q24.2	14q24.2	602984	MED6	Mediator complex subunit 6	MED6	10001	ENSG00000133997			Med6 (MGI:1917042)
chr14	70641916	70675366	14q24.2	14q24.2	610488	TTC9, KIAA0227	Tetratricopeptide repeat domain-containing protein 9	TTC9	23508	ENSG00000133985			Ttc9 (MGI:1916730)
chr14	70722526	70809513	14q24.3-q31	14q24.2	600136	MAP3K9, MLK1	Mitogen-activated protein kinase kinase kinase 9	MAP3K9	4293	ENSG00000006432			Map3k9 (MGI:2449952)
chr14	70907459	71115382	14q24.2	14q24.2	617655	PCNX1, KIAA0995	Pecanex 1	PCNX1	22990	ENSG00000100731			Pcnx1 (MGI:1891924)
chr14	71320476	71741209	14q24.2	14q24.2	617504	SIPA1L1, E6TP1, KIAA0440	SIPA1-like protein 1	SIPA1L1	26037	ENSG00000197555			Sipa1l1 (MGI:2443679)
chr14	71867335	72630029	14q24.3	14q24.2	603894	RGS6	Regulator of G protein signaling 6	RGS6	9628	ENSG00000182732			Rgs6 (MGI:1354730)
chr14	72609034	72894101	14q24.3-q31.1	14q24.2	601672	DPF3, CERD4	D4, zinc and double PHD fingers, family 3	DPF3	8110	ENSG00000205683			Dpf3 (MGI:1917377)
chr14	72926464	72962098	14q24.2	14q24.2	616372	DCAF4, WDR21, WDR21A	DDB1- and CUL4-associated factor 4	DCAF4	26094	ENSG00000119599			Dcaf4 (MGI:1921078)
chr14	72969445	73027106	14q22-q24	14q24.2	605471	ZFYVE1, ZNFN2A1, DFCP1, TAFF1	Zinc finger FYVE type-containing protein 1	ZFYVE1	53349	ENSG00000165861			Zfyve1 (MGI:3026685)
chr14	73058534	73123899	14q24.2	14q24.2	612427	RBM25, RED120	RNA-binding motif protein 25	RBM25	58517	ENSG00000119707			Rbm25 (MGI:1914289)
chr14	73136417	73223691	14q24.3	14q24.2	104311	PSEN1, AD3, ACNINV3, CMD1U	Presenilin 1	PSEN1	5663	ENSG00000080815	mutation identified in 1 ACNINV3 family and 1 CMD1U family	Pick disease, 172700 (3), Autosomal dominant; Dementia, frontotemporal, 600274 (3), Autosomal dominant; ?Acne inversa, familial, 3, 613737 (3), Autosomal dominant; ?Cardiomyopathy, dilated, 1U, 613694 (3), Autosomal dominant; Alzheimer disease, type 3, with or without spastic paraparesis, 607822 (3), Autosomal dominant	Psen1 (MGI:1202717)
chr14	73235805	73274623	14q24.2	14q24.2	617785	PAPLN, PPN	Papilin, proteoglycan-like sulfated glycoprotein	PAPLN	89932	ENSG00000100767			Papln (MGI:2386139)
chr14	73275216	73458546	14q24.3	14q24.2-q24.3	603728	NUMB, S171	Numb, Drosophila, homolog of	NUMB	8650	ENSG00000133961			Numb (MGI:107423)
chr14	73300001	78800000	14q24.3		613085	GLC3C	Glaucoma 3, primary congenital, C		399565		between D14S61 and D14S1000	Glaucoma 3, primary congenital, C, 613085 (2)	
chr14	73300001	89300000	14q24.3-q31		601208	IDDM11	Insulin-dependent diabetes mellitus-11		3410			{Diabetes mellitus, insulin-dependent, 11}, 601208 (2)	
chr14	73300001	78800000	14q24.3		614628	KTCN8	Keratoconus 8		100885803		between rs1074501 and rs755212	Keratoconus 8, 614628 (2), Autosomal dominant	
chr14	73300001	78800000	14q24.3		612083	MUSTQTL1	Muscle strength quantitative trait locus 1		100192311			Muscle strength quantitative trait locus 1, 612083 (2)	
chr14	73490933	73543796	14q24.3	14q24.3	614313	ACOT1	Acyl-CoA thioesterase 1	ACOT1	641371	ENSG00000184227			Acot1,Acot3,Acot5 (MGI:1349396,MGI:2159619,MGI:2384969)
chr14	73490933	73493394	14q24.3	14q24.3	611919	RIOX1, C14orf169, NO66, MAPJD	Ribosomal oxygenase 1	RIOX1	79697	ENSG00000170468			Riox1 (MGI:1919202)
chr14	73567620	73575658	14q24.3	14q24.3	609972	ACOT2, PTE2, MTE1	Acyl-CoA thioesterase 2	ACOT2	10965	ENSG00000119673			Acot1,Acot2 (MGI:1349396,MGI:2159605)
chr14	73591873	73595766	14q24.3	14q24.3	614314	ACOT4	Acyl-CoA thioesterase 4	ACOT4	122970	ENSG00000177465	?pseudogene on 19q13.12		Acot4 (MGI:2159621)
chr14	73610945	73619888	14q24.3	14q24.3	614267	ACOT6	Acyl-CoA thioesterase 6	ACOT6	641372	ENSG00000205669			Acot6 (MGI:1921287)
chr14	73644986	73703732	14q24.3	14q24.3	610062	DNAL1, C14orf168, CILD16	Dynein, axonemal, light chain 1	DNAL1	83544	ENSG00000119661		Ciliary dyskinesia, primary, 16, 614017 (3), Autosomal recessive	Dnal1 (MGI:1921462)
chr14	73711783	73714384	14q24.3	14q24.3	604010	PNMA1, MA1	Paraneoplastic MA antigen 1	PNMA1	9240	ENSG00000176903			Pnma1 (MGI:2180564)
chr14	73715122	73790285	14q24.3	14q24.3	621074	MIDEAS, ELMSAN1	Mitotic deacetylase-associated SANT domain protein	MIDEAS	91748	ENSG00000156030			Mideas (MGI:2685106)
chr14	73851831	73885726	14q24	14q24.3	608642	ZADH1	Zinc-binding alcohol dehydrogenase domain-containing protein 1	PTGR2	145482	ENSG00000140043			Ptgr2 (MGI:1916372)
chr14	73886859	73932521	14q24.3	14q24.3	619427	ZNF410, APA1	Zinc finger protein 410	ZNF410	57862	ENSG00000119725			Zfp410 (MGI:1289280)
chr14	73949918	73963670	14q24.3	14q24.3	614647	COQ6, CGI10, COQ10D6	Coq6, S. cerevisiae, homolog of	COQ6	51004	ENSG00000119723		Coenzyme Q10 deficiency, primary, 6, 614650 (3), Autosomal recessive	Coq6 (MGI:1924408)
chr14	73955329	74019288	14q24	14q24.3	603162	ENTPD5, CD39L4	Ectonucleoside triphosphate diphosphohydrolase 5	ENTPD5	957	ENSG00000187097			Entpd5 (MGI:1321385)
chr14	74019349	74082864	14q24.3	14q24.3	620496	BBOF1	Basal body orientation factor 1	BBOF1	80127	ENSG00000119636			Bbof1 (MGI:1920123)
chr14	74056847	74084453	14q24.3	14q24.3	603178	ALDH6A1, MMSDH	Aldehyde dehydrogenase 6 family, member A1 (methylmalonate semialdehyde dehydrogenase)	ALDH6A1	4329	ENSG00000119711		Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3), Autosomal recessive	Aldh6a1 (MGI:1915077)
chr14	74239449	74262738	14q24.3	14q24.3	142993	VSX2, CHX10, HOX10, MCOP2, MCOPCB3	Visual system homeobox 2	VSX2	338917	ENSG00000119614		Microphthalmia, isolated 2, 610093 (3), Autosomal recessive; Microphthalmia/coloboma 3, 610092 (3), Autosomal recessive	Vsx2 (MGI:88401)
chr14	74285269	74302934	14q24.3	14q24.3	603214	ABCD4, PXMP1L, P79R, PMP69, MAHCJ	ATP-binding cassette, subfamily D, member 4 (peroxisomal membrane protein 1-like)	ABCD4	5826	ENSG00000119688		Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3), Autosomal recessive	Abcd4 (MGI:1349217)
chr14	74302993	74360008	14q24.3	14q24.3	620468	VRTN	Vertebrae development-associated gene (vertnin)	VRTN	55237	ENSG00000133980			Vrtn (MGI:3588197)
chr14	74405899	74480143	14q24.3	14q24.3	609999	SYNDIG1L, TMEM90A, CAPUCIN	Synapse differentiation-induced gene 1-like	SYNDIG1L	646658	ENSG00000183379			Syndig1l (MGI:2685107)
chr14	74479935	74493512	14q24.3	14q24.3	601015	NPC2, HE1	NPC intracellular cholesterol tranporter 2	NPC2	10577	ENSG00000119655		Niemann-pick disease, type C2, 607625 (3), Autosomal recessive	Npc2 (MGI:1915213)
chr14	74493765	74497106	14q24.3	14q24.3	615317	ISCA2, MMDS4	Iron-sulfur cluster assembly 2	ISCA2	122961	ENSG00000165898		Multiple mitochondrial dysfunctions syndrome 4, 616370 (3), Autosomal recessive	Isca2 (MGI:1921566)
chr14	74498183	74612237	14q24	14q24.3	602091	LTBP2, LTBP3, GLC3D, MSPKA, WMS3	Latent transforming growth factor beta binding protein-2	LTBP2	4053	ENSG00000119681	mutation identified in 1 WMS3 family	Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3), Autosomal recessive; ?Weill-Marchesani syndrome 3, recessive, 614819 (3), Autosomal recessive	Ltbp2 (MGI:99502)
chr14	74661256	74713080	14q24.3	14q24.3	615380	AREL1, KIAA0317	Apoptosis-resistant E3 ubiquitin protein ligase 1	AREL1	9870	ENSG00000119682			Arel1 (MGI:1915747)
chr14	74763316	74837318	14q24.3	14q24.3	619766	YLPM1, ZAP3	YLP motif-containing protein 1	YLPM1	56252	ENSG00000119596			Ylpm1 (MGI:1926195)
chr14	74853033	74876145	14q24.3	14q24.3	615094	PROX2	Prospero-related homeobox 2	PROX2	283571	ENSG00000119608			Prox2 (MGI:1920672)
chr14	74881916	74903743	14q24.3	14q24.3	126063	DLST, PPGL7	Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	DLST	1743	ENSG00000119689		Pheochromocytoma/paraganglioma syndrome 7, 618475 (3), Autosomal dominant	Dlst (MGI:1926170)
chr14	74941830	74955764	14q24-q31	14q24.3	601121	PGF, PLGF	Placental growth factor, vascular endothelial growth factor-related protein	PGF	5228	ENSG00000119630			Pgf (MGI:105095)
chr14	75002921	75012366	14q24	14q24.3	606454	EIF2B2, VWM2	Eukaryotic translation initiation factor 2B, subunit 2	EIF2B2	8892	ENSG00000119718		Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, 620312 (3), Autosomal recessive	Eif2b2 (MGI:2145118)
chr14	75013775	75051467	14q24.3	14q24.3	604395	MLH3, HNPCC7	DNA mismatch repair gene MLH3	MLH3	27030	ENSG00000119684		{Endometrial cancer, susceptibility to}, 608089 (3), Somatic mutation, Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)	Mlh3 (MGI:1353455)
chr14	75053243	75069490	14q24.3	14q24.3	600875	ACYP1, ACYPE	Acylphosphatase, erythrocyte	ACYP1	97	ENSG00000119640			Acyp1 (MGI:1913454)
chr14	75079353	75127202	14q24.3	14q24.3	609798	NEK9, NERCC1, LCCS10, APUG, NC	NIMA-related kinase 9	NEK9	91754	ENSG00000119638	mutation identified in 1 APUG family	?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3), Autosomal recessive; Nevus comedonicus, somatic, 617025 (3); Lethal congenital contracture syndrome 10, 617022 (3), Autosomal recessive	Nek9 (MGI:2387995)
chr14	75131469	75176612	14q24.3	14q24.3	605406	TMED10, TMP21	Transmembrane p24 trafficking protein 10	TMED10	10972	ENSG00000170348			Tmed10,Tmed10-ps (MGI:1915831,MGI:3782198)
chr14	75278828	75282230	14q24.3	14q24.3	164810	FOS	FOS protooncogene, AP1 transcription factor subunit	FOS	2353	ENSG00000170345			Fos (MGI:95574)
chr14	75426943	75474107	14q24.3	14q24.3	608657	JDP2	JUN dimerization protein 2	JDP2	122953	ENSG00000140044			Jdp2 (MGI:1932093)
chr14	75522469	75546992	14q24	14q24.3	612476	BATF, BATF1, SFA2	Basic leucine zipper transcription factor, ATF-like	BATF	10538	ENSG00000156127			Batf (MGI:1859147)
chr14	75578620	75648167	14q24.3	14q24.3	610865	FLVCR2, C14orf58, CCT, PVHH, EPV	FLVCR heme transporter 2	FLVCR2	55640	ENSG00000119686		Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3), Autosomal recessive	Flvcr2 (MGI:2384974)
chr14	75649791	75660876	14q24	14q24.3	604576	ERG28, C14orf1	Ergosterol biosynthesis 28 homolog	ERG28	11161	ENSG00000133935			Erg28 (MGI:1915571)
chr14	75661246	75955079	14q24.3	14q24.3	612268	TTLL5, STAMP, KIAA0998, CORD19	Tubulin tyrosine ligase-like 5	TTLL5	23093	ENSG00000119685		Cone-rod dystrophy 19, 615860 (3), Autosomal recessive	Ttll5 (MGI:2443657)
chr14	75958097	75983011	14q24	14q24.3	190230	TGFB3, ARVD1, RNHF, LDS5	Transforming growth factor, beta-3	TGFB3	7043	ENSG00000119699		Arrhythmogenic right ventricular dysplasia 1, 107970 (3), Autosomal dominant; Loeys-Dietz syndrome 5, 615582 (3), Autosomal dominant	Tgfb3 (MGI:98727)
chr14	75985763	76084073	14q24.3	14q24.3	614068	IFT43, C14orf179, CED3, SRTD18, RP81	Intraflagellar transport 43	IFT43	112752	ENSG00000119650	mutation identified in 1 CED3 family and 1 RP81 family	?Cranioectodermal dysplasia 3, 614099 (3), Autosomal recessive; ?Retinitis pigmentosa 81, 617871 (3), Autosomal recessive; Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3), Autosomal recessive	Ift43 (MGI:1923661)
chr14	76310777	76501837	14q24.3	14q24.3	602167	ESRRB, ESRL2, DFNB35	Estrogen-related receptor beta	ESRRB	2103	ENSG00000119715		Deafness, autosomal recessive 35, 608565 (3), Autosomal recessive	Esrrb (MGI:1346832)
chr14	76761468	76783015	14q24.3	14q24.3	609011	VASH1, KIAA1036	Vasohibin 1	VASH1	22846	ENSG00000071246			Vash1 (MGI:2442543)
chr14	76786009	76812882	14q24.3	14q24.3	619537	ANGEL1	Angel homolog 1	ANGEL1	23357	ENSG00000013523			Angel1 (MGI:1915987)
chr14	77024543	77028708	14q24.3	14q24.3	611720	IRF2BPL, C14orf4, EAP1, NEDAMSS	Interferon regulatory factor 2-binding protein like	IRF2BPL	64207	ENSG00000119669		Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3), Autosomal dominant	Irf2bpl (MGI:2442463)
chr14	77098258	77117287	14q24.3	14q24.3	616995	CIPC, KIAA1737	Clock-interacting pacemaker	CIPC	85457	ENSG00000198894			Cipc (MGI:1919185)
chr14	77181798	77259495	14q24.3	14q24.3	619953	TMEM63C, SPG87	Transmembrane protein 63C	TMEM63C	57156	ENSG00000165548		Spastic paraplegia 87, autosomal recessive, 619966 (3), Autosomal recessive	Tmem63c (MGI:2444386)
chr14	77265483	77271206	14q24	14q24.3	605304	NGB	Neuroglobin	NGB	58157	ENSG00000165553			Ngb (MGI:2151886)
chr14	77274956	77320883	14q24.3	14q24.3	607439	POMT2, MDDGA2, MDDGB2, MDDGC2, LGMDR14	Putative protein O-mannosyltransferase 2	POMT2	29954	ENSG00000009830		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, 613156 (3), Autosomal recessive	Pomt2 (MGI:2444430)
chr14	77321036	77331597	14q24.3	14q24.3	603758	GSTZ1, MAAI, MAAID	Glutathione S-transferase, zeta-1 (maleylacetoacetate isomerase)	GSTZ1	2954	ENSG00000100577		[Maleylacetoacetate isomerase deficiency], 617596 (3), Autosomal recessive	Gstz1 (MGI:1341859)
chr14	77426675	77457601	14q24.3	14q24.3	613401	VIPAS39, VIPAR, SPE39, C14orf133	VPS33B-interacting protein, apical-basolateral polarity regulator, spe-39 homolog	VIPAS39	63894	ENSG00000151445		Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3), Autosomal recessive	Vipas39 (MGI:2144805)
chr14	77457867	77469472	14q24.3	14q24.3	608466	AHSA1, AHA1	Activator of heat-shock 90kD protein ATPase 1	AHSA1	10598	ENSG00000100591			Ahsa1 (MGI:2387603)
chr14	77474394	77498816	14q24.3	14q24.3	612684	ISM2, THSD3, TAIL1	Isthmin 2	ISM2	145501	ENSG00000100593			Ism2 (MGI:2685110)
chr14	77505997	77616637	14q24.3-q31	14q24.3	605713	SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C	Serine palmitoyltransferase, long-chain base subunit 2	SPTLC2	9517	ENSG00000100596		Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3), Autosomal dominant	Sptlc2 (MGI:108074)
chr14	77672404	77708023	14q24	14q24.3	605345	ALKBH1, ALKB	AlkB homolog 1, histone H2A dioxygenase	ALKBH1	8846	ENSG00000100601			Alkbh1 (MGI:2384034)
chr14	77708071	77717598	14q24.3	14q24.3	610211	SLIRP, C14orf156	SRA stem loop-interacting RNA-binding protein	SLIRP	81892	ENSG00000119705			Slirp (MGI:1916394)
chr14	77717599	77761156	14q24.3	14q24.3	603055	SKIIP, SKIP, SNW1, BX42	SKI-interacting protein	SNW1	22938	ENSG00000100603			Snw1 (MGI:1913604)
chr14	77800109	77935014	14q24.3	14q24.3	620399	ADCK1, MCP2	AARF domain-containing kinase 1	ADCK1	57143	ENSG00000063761			Adck1 (MGI:1919363)
chr14	78170373	79868291	14q24.3-q31.1	14q24.3-q31.1	600567	NRXN3	Neurexin 3	NRXN3	9369	ENSG00000021645			Nrxn3 (MGI:1096389)
chr14	78800001	89300000	14q31		275000	GRD1	Graves disease, susceptibility to, 1		100312954		associated with rs2268458	{Graves disease, susceptibility to, 1}, 275000 (2), Autosomal recessive	
chr14	78800001	89300000	14q31		614187	HPPD	Hypertelorism, preauricular sinus, punctal pits, and deafness		100682260			Hypertelorism, preauricular sinus, punctal pits, and deafness, 614187 (2), Autosomal dominant	
chr14	80197526	80231057	14q24.3	14q31.1	601413	DIO2, TXDI2, D2	Deiodinase, iodothyronine, type II	DIO2	1734	ENSG00000211448			Dio2 (MGI:1338833)
chr14	80476969	80959502	14q31.1	14q31.1	620667	CEP128	Centrosomal protein, 128kD	CEP128	145508	ENSG00000100629			Cep128 (MGI:1922466)
chr14	80955621	81146306	14q31	14q31.1	603372	TSHR, CHNG1	Thyroid-stimulating hormone receptor	TSHR	7253	ENSG00000165409		Hyperthyroidism, familial gestational, 603373 (3), Autosomal dominant; Hyperthyroidism, nonautoimmune, 609152 (3), Autosomal dominant; Thyroid adenoma, hyperfunctioning, somatic, 609152 (3); Hypothyroidism, congenital, nongoitrous, 1, 275200 (3), Autosomal recessive; Thyroid carcinoma with thyrotoxicosis, somatic, 609152 (3)	Tshr (MGI:98849)
chr14	81175452	81221390	14q31.1	14q31.1	600520	GTF2A1, TF2A1	General transcription factor IIA, alpha/beta subunits	GTF2A1	2957	ENSG00000165417			Gtf2a1 (MGI:1933277)
chr14	81260652	81436465	14q31.1	14q31.1	608467	STON2, STN2, STNB	Stonin 2	STON2	85439	ENSG00000140022			Ston2 (MGI:1918272)
chr14	81471547	81533853	14q31	14q31.1	602329	SEL1L, NEDGSAF, NEDHGFA	SEL1L adaptor subunit ERAD E3 ubiquitin ligase	SEL1L	6400	ENSG00000071537	mutation identified in 1 NEDGSAF family and 1 NEDHGFA family	Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, 621068 (3), Autosomal recessive; ?Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, 621067 (3), Autosomal recessive	Sel1l (MGI:1329016)
chr14	85530144	85654428	14q24-q32	14q31.3	604807	FLRT2	Fibronectin-like domain-containing leucine-rich transmembrane protein-2	FLRT2	23768	ENSG00000185070			Flrt2 (MGI:3603594)
chr14	87933014	87993667	14q31	14q31.3	606890	GALC	Galactosylceramidase	GALC	2581	ENSG00000054983		Krabbe disease, 245200 (3), Autosomal recessive	Galc (MGI:95636)
chr14	88005135	88014811	14q31-q32.1	14q31.3	604620	GPR65, TDAG8	G protein-coupled receptor 65	GPR65	8477	ENSG00000140030			Gpr65 (MGI:108031)
chr14	88180108	88326912	14q31	14q31.3	605873	KCNK10, TREK2	Potassium channel, subfamily K, member 10	KCNK10	54207	ENSG00000100433			Kcnk10 (MGI:1919508)
chr14	88385657	88470350	14q31.3	14q31.3	609868	SPATA7, HSD3, LCA3, RP94	Spermatogenesis-associated protein 7	SPATA7	55812	ENSG00000042317		Leber congenital amaurosis 3, 604232 (3), Autosomal recessive; Retinitis pigmentosa 94, variable age at onset, autosomal recessive, 604232 (3), Autosomal recessive	Spata7 (MGI:2144877)
chr14	88465778	88555007	14q31.3	14q31.3	603271	PTPN21, PTPD1	Protein-tyrosine phosphatase, nonreceptor-type, 21	PTPN21	11099	ENSG00000070778			Ptpn21 (MGI:1344406)
chr14	88563037	88627596	14q31.3	14q31.3	613279	ZC3H14, SUT2, MRT56	Zinc finger CCCH domain-containing protein 14	ZC3H14	79882	ENSG00000100722		Intellectual developmental disorder, autosomal recessive 56, 617125 (3), Autosomal recessive	Zc3h14 (MGI:1919824)
chr14	88612431	88792953	14q31.3	14q31.3	618119	EML5	Echinoderm microtubule-associated protein-like 5	EML5	161436	ENSG00000165521			Eml5 (MGI:2442513)
chr14	88824153	88881079	14q32.1	14q31.3	608132	TTC8, BBS8, RP51	Tetratricopeptide repeat domain 8	TTC8	123016	ENSG00000165533	mutation identified in 1 RP51 family	Bardet-Biedl syndrome 8, 615985 (3), Autosomal recessive; ?Retinitis pigmentosa 51, 613464 (3), Autosomal recessive	Ttc8 (MGI:1923510)
chr14	89156177	89619165	14q24.3-q31	14q31.3-q32.11	602628	FOXN3, CHES1	Forkhead box N3	FOXN3	1112	ENSG00000053254			Foxn3 (MGI:1918625)
chr14	89300001	107043718	14q32		608318	CHDS4	Coronary heart disease, susceptibility to, 4		387585		highest LOD with D14S1426	{Coronary heart disease, susceptibility to, 4}, 608318 (2)	
chr14	89300001	107043718	14q32		123270	CKBE	Creatine kinase, ectopic expression		1156		linked to IGH, PI; ?same locus as CKBB	[Creatine kinase, brain type, ectopic expression of], 123270 (2)	
chr14	89300001	107043718	14q32		616604	DUP14q32, C14DUPq32	Chromosome 14q32 duplication syndrome, 700kB				heterozygous germline duplication of 700kb	{Myeloproliferative neoplasms, familial, susceptibility to}, 616604 (4), Autosomal dominant	
chr14	89300001	107043718	14q32		608875	GEVQ1	Gene expression, variation in, quantitative trait locus on chromosome 14		474334			{Gene expression, variation in, QTL}, 608875 (2)	
chr14	89300001	107043718	14q32		608149	KAOGS	Kagami-Ogata syndrome				uniparental isodisomy of imprinted region of chromosome 14	Kagami-Ogata syndrome, 608149 (4), Autosomal dominant	
chr14	89300001	107043718	14q32		251600	MCOP1	Microphthalmia, isolated 1		8113			Microphthalmia, isolated 1, 251600 (2), Autosomal recessive	
chr14	89300001	95800000	14q32.1		107410	SERPINA2P, PIL, ATR, ARGS	Serpin peptidase inhibitor, clade A, member 2, pseudogene	SERPINA2	390502	ENSG00000258597	?pseudogene		
chr14	89300001	107043718	14q32		616222	TEMPS	Temple syndrome (maternal uniparental disomy chromosome 14)					Temple syndrome, 616222 (4), Autosomal dominant	
chr14	89954968	90044764	14q31-q32	14q32.11	607198	TDP1, SCAN1	Tyrosyl-DNA phosphodiesterase 1	TDP1	55775	ENSG00000042088	mutation identified in 1 SCAN1 family	?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, 607250 (3), Autosomal recessive	Tdp1 (MGI:1920036)
chr14	90061994	90185853	14q24.1-q24.3	14q32.11	607367	KCNK13, THIK1	Potassium channel, subfamily K, member 13	KCNK13	56659	ENSG00000152315			Kcnk13 (MGI:2384976)
chr14	90256553	90275429	14q32.11	14q32.11	602706	PSMC1, S4, NEDGTH	Proteasome 26S subunit, ATPase, 1	PSMC1	5700	ENSG00000100764	mutation identified in 1 NEDGTH family	?Birk-Aharoni syndrome, 620071 (3), Autosomal recessive	Psmc1 (MGI:106054)
chr14	90267860	90331941	14q32.11	14q32.11	618631	NRDE2, C14orf102	NRDE2, necessary for RNA interference, domain containing	NRDE2	55051	ENSG00000119720			Nrde2 (MGI:2670969)
chr14	90396502	90408268	14q24-q31	14q32.11	114180	CALM1, PHKD, CPVT4, LQT14	Calmodulin-1 (phosphorylase kinase, delta)	CALM1	801	ENSG00000198668		Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3), Autosomal dominant; Long QT syndrome 14, 616247 (3), Autosomal dominant	Calm1 (MGI:88251)
chr14	90524564	90816430	14q32.11	14q32.11	620060	TTC7B	Tetratricopeptide repeat domain-containing protein 7B	TTC7B	145567	ENSG00000165914			Ttc7b (MGI:2144724)
chr14	90847861	91060641	14q31-q32	14q32.11	603607	RPS6KA5, MSK1	Ribosomal protein S6 kinase A5	RPS6KA5	9252	ENSG00000100784			Rps6ka5 (MGI:1920336)
chr14	91060333	91225632	14q32.11	14q32.11	620716	DGLUCY	D-glutamate cyclase	DGLUCY	80017	ENSG00000133943			Dglucy (MGI:2444813)
chr14	91232532	91270790	14q31	14q32.11	601404	GPR68, OGR1, AI2A6	G protein-coupled receptor 68	GPR68	8111	ENSG00000119714		Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3), Autosomal recessive	Gpr68 (MGI:2441763)
chr14	91271323	91417820	14q32.11	14q32.11-q32.12	611204	CCDC88C, HKRP2, DAPLE, KIAA1509, HYC1, SCA40	Coiled-coil domain-containing protein 88C	CCDC88C	440193	ENSG00000015133	mutation identified in 1 SCA40 family	?Spinocerebellar ataxia 40, 616053 (3), Autosomal dominant; Hydrocephalus, congenital, 1, 236600 (3), Autosomal recessive	Ccdc88c (MGI:1915589)
chr14	91457508	91510554	14q32.12	14q32.12	610351	PPP4R3A, SMEK1, PP4R3A, KIAA2010	Protein phosphatase 4, regulatory subunit 3, alpha	PPP4R3A	55671	ENSG00000100796			Ppp4r3a (MGI:1915984)
chr14	91580698	91732086	14q32.12	14q32.12	611169	CATSPERB, C14orf161	Cation channel, sperm-associated, beta	CATSPERB	79820	ENSG00000133962			Catsperb (MGI:2443988)
chr14	91779746	91867536	14q32.12	14q32.12	619305	TC2N, TAC2N	Tandem C2 domains protein, nuclear	TC2N	123036	ENSG00000165929			Tc2n (MGI:1921663)
chr14	91869411	91947694	14q32.1	14q32.12	604580	FBLN5, ARMD3, ADCL2, ARCL1A, CMT1H	Fibulin 5	FBLN5	10516	ENSG00000140092	mutation identified in 1 ADCL2 patient	Cutis laxa, autosomal recessive, type IA, 219100 (3), Autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, type 1H, 619764 (3), Autosomal dominant; Macular degeneration, age-related, 3, 608895 (3), Autosomal dominant; ?Cutis laxa, autosomal dominant 2, 614434 (3), Autosomal dominant	Fbln5 (MGI:1346091)
chr14	91965991	92040059	14q31-q32	14q32.12	604505	TRIP11, TRIP230, CEV14, ACG1A, ODCD1	Thyroid hormone receptor interactor 11	TRIP11	9321	ENSG00000100815		Odontochondrodysplasia 1, 184260 (3), Autosomal recessive; Achondrogenesis, type IA, 200600 (3), Autosomal recessive	Trip11 (MGI:1924393)
chr14	92044775	92106582	14q32.12	14q32.12	607047	ATXN3, MJD, SCA3	Ataxin-3 (josephin)	ATXN3	4287	ENSG00000066427		{Parkinson disease, late-onset, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant; Machado-Joseph disease, 109150 (3), Autosomal dominant	Atxn3 (MGI:1099442)
chr14	92116123	92121706	14q32.12	14q32.12	603837	NDUFB1	NADH-ubiquinone oxidoreductase subunit B1	NDUFB1	4707	ENSG00000183648			Ndufb1 (MGI:3780865)
chr14	92121969	92172145	14q32.12	14q32.12	606028	CPSF2, CPSF100	Cleavage and polyadenylation specificity factor 2	CPSF2	53981	ENSG00000165934			Cpsf2 (MGI:1861601)
chr14	92322581	92501481	14q32	14q32.12	609840	SLC24A4, NCKX4, SHEP6, AI2A5	Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	SLC24A4	123041	ENSG00000140090		[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3), Autosomal recessive; Amelogenesis imperfecta, type IIA5, 615887 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3), Autosomal recessive	Slc24a4 (MGI:2447362)
chr14	92513781	92688994	17q32.12	14q32.12	610223	RIN3, FLJ22349	Ras and Rab interactor 3	RIN3	79890	ENSG00000100599			Rin3 (MGI:2385708)
chr14	92703809	92748627	14q32.1	14q32.12	602620	LGMN, PRSC1	Legumain (protease, cysteine, 1)	LGMN	5641	ENSG00000100600			Lgmn (MGI:1330838)
chr14	92794305	92839947	14q32.12	14q32.12	606918	GOLGA5, RFG5	Golgin A5	GOLGA5	9950	ENSG00000066455	fused with RET to form PTC5		Golga5 (MGI:1351475)
chr14	92922664	92935285	14q32	14q32.12	118910	CHGA	Chromogranin A, parathyroid secretory protein-1	CHGA	1113	ENSG00000100604			Chga (MGI:88394)
chr14	92936914	93115925	14q32.12	14q32.12	601838	ITPK1, ITRPK1	Inositol 1,3,4-trisphosphate 5/6-kinase	ITPK1	3705	ENSG00000100605			Itpk1 (MGI:2446159)
chr14	93182199	93184897	14q32.12	14q32.12	609485	MOAP1, MAP1, PNMA4	Modulator of apoptosis 1	MOAP1	64112	ENSG00000165943			Moap1 (MGI:1915555)
chr14	93184974	93188463	14q32.12	14q32.12	619332	LYSET, TMEM251, C14orf109, DMAN	Lysosomal enzyme trafficking factor	LYSET	26175	ENSG00000153485		Dysostosis multiplex, Ain-Naz type, 619345 (3), Autosomal recessive	Lyset (MGI:2443862)
chr14	93202894	93207065	14q32.12	14q32.12	617436	GON7, C14orf142	GON7 subunit of KEOPS complex	GON7	84520	ENSG00000170270		Galloway-Mowat syndrome 9, 619603 (3), Autosomal recessive	Gon7 (MGI:4845848)
chr14	93207256	93229215	14q32.12	14q32.12	613816	UBR7, LICAS	Ubiquitin protein ligase E3 component N-recognin 7	UBR7	55148	ENSG00000012963		Li-Campeau syndrome, 619189 (3), Autosomal recessive	Ubr7 (MGI:1913872)
chr14	93237550	93333036	14q32.1	14q32.12	610386	BTBD7, FUP1	BTB/POX domain-containing protein 7	BTBD7	55727	ENSG00000011114			Btbd7 (MGI:1917858)
chr14	93333182	93707876	14q32.12	14q32.12	616884	UNC79	unc-79 homolog, NALCN channel complex subunit	UNC79	57578	ENSG00000133958			Unc79 (MGI:2684729)
chr14	93347182	93348356	14q32.12	14q32.12	616855	COX8C	Cytochrome c oxidase, subunit 8c	COX8C	341947	ENSG00000187581			Cox8c (MGI:1922733)
chr14	93718298	93788994	14q32.12	14q32.12	613851	PRIMA1, PRIMA	Proline-rich membrane anchor 1	PRIMA1	145270	ENSG00000175785			Prima1 (MGI:1926097)
chr14	93934166	93976570	14q32.12	14q32.12	605759	ASB2	Ankyrin repeat-containing SOCS box protein 2	ASB2	51676	ENSG00000100628			Asb2 (MGI:1929743)
chr14	94026340	94048930	14q32.12	14q32.12	608338	OTUB2, OTU2, OTB2, C14orf137	OTU domain-containing ubiquitin aldehyde-binding protein 2	OTUB2	78990	ENSG00000089723			Otub2 (MGI:1915399)
chr14	94048287	94081202	14q32	14q32.12	606181	DDX24	DEAD-box helicase 24	DDX24	57062	ENSG00000089737			Ddx24 (MGI:1351337)
chr14	94081310	94102709	14q32.12	14q32.12	611320	IFI27L1, ISG12C, FAM14B	Interferon-alpha-inducible protein 27-like 1	IFI27L1	122509	ENSG00000165948			Ifi27,Ifi27l2a,Ifi27l2b (MGI:1277180,MGI:1916390,MGI:1924183)
chr14	94105894	94116690	14q32	14q32.12	600009	IFI27	Interferon, alpha-inducible protein-27	IFI27	3429	ENSG00000165949			Ifi27,Ifi27l2a,Ifi27l2b (MGI:1277180,MGI:1916390,MGI:1924183)
chr14	94127781	94129604	14q32.12	14q32.12	611319	IFI27L2, FAM14A, ISG12B	Interferon alpha inducible protein 27 like 2	IFI27L2	83982	ENSG00000119632			Ifi27,Ifi27l2a,Ifi27l2b (MGI:1277180,MGI:1916390,MGI:1924183)
chr14	94174322	94279734	14q32.13	14q32.12-q32.13	616790	PPP4R4, PP4R4, KIAA1622	Protein phosphatase 4, regulatory subunit 4	PPP4R4	57718	ENSG00000119698			Ppp4r4 (MGI:1921771)
chr14	94280460	94293268	14q32.1	14q32.13	605271	SERPINA10, ZPI	Serine (or cysteine) proteinase inhibitor, clade A, member 10 (protein Z-dependent protease inhibitor precursor)	SERPINA10	51156	ENSG00000140093			Serpina10 (MGI:2667725)
chr14	94304248	94323336	14q32.1	14q32.13	122500	CBG, SERPINA6	Corticosteroid-binding globulin	SERPINA6	866	ENSG00000170099		Corticosteroid-binding globulin deficiency, 611489 (3), Autosomal recessive, Autosomal dominant	Serpina6 (MGI:88278)
chr14	94376747	94390635	14q32.1	14q32.13	107400	SERPINA1, PI, AAT	Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1)	SERPINA1	5265	ENSG00000197249		Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3), Autosomal recessive; Emphysema due to AAT deficiency, 613490 (3), Autosomal recessive; Emphysema-cirrhosis, due to AAT deficiency, 613490 (3), Autosomal recessive	Serpina1a,Serpina1b,Serpina1c,Serpina1d,Serpina1e (MGI:891967,MGI:891968,MGI:891969,MGI:891970,MGI:891971)
chr14	94442464	94452800	14q32.13	14q32.13	619619	SERPINA11	Serpin family A, member 11	SERPINA11	256394	ENSG00000186910			Serpina11 (MGI:2685741)
chr14	94462721	94476197	14q32	14q32.13	615677	SERPINA9, GCET1, CENTERIN	Serpin peptidase inhibitor, clade A, member 9	SERPINA9	327657	ENSG00000170054			Serpina9 (MGI:1919157)
chr14	94487279	94517844	14q32.1	14q32.13	617471	SERPINA12, VASPIN	Serpin peptidase inhibitor, clade A, member 12 (vaspin)	SERPINA12	145264	ENSG00000165953			Serpina12 (MGI:1915304)
chr14	94561442	94569906	14q31-q32.1	14q32.13	147935	SERPINA4, KST, PI4	Serpin peptidase inhibitor, clade A, member 4	SERPINA4	5267	ENSG00000100665	in cluster with related AAT, AACT, CBG, PCI		
chr14	94581426	94593118	14q32.1	14q32.13	601841	SERPNA5, PCI	Serpin peptidase inhibitor, clade A, member 5 (protein C inhibitor)	SERPINA5	5104	ENSG00000188488			Serpina5 (MGI:107817)
chr14	94612391	94624053	14q32.1	14q32.13	107280	SERPINA3, AACT, ACT	Alpha-1-antichymotrypsin	SERPINA3	12	ENSG00000196136	220kb from PI	Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3)	Serpina3a,Serpina3b,Serpina3c,Serpina3f,Serpina3g,Serpina3i,Serpina3j,Serpina3k,Serpina3m,Serpina3n (MGI:102848,MGI:105045,MGI:105046,MGI:1921319,MGI:2182835,MGI:2182838,MGI:2182841,MGI:2182843,MGI:98377,MGI:98378)
chr14	94768223	94770113	14q32.1	14q32.13	138890	GSC, SAMS	Goosecoid	GSC	145258	ENSG00000133937		Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3), Autosomal recessive	Gsc (MGI:95841)
chr14	95086228	95158010	14q31	14q32.13	606241	DICER1, HERNA, KIAA0928, MNG1, RMSE2, GLOW	dicer 1, ribonuclease III	DICER1	23405	ENSG00000100697		Pleuropulmonary blastoma, 601200 (3), Autosomal dominant; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3), Autosomal dominant; GLOW syndrome, somatic mosaic, 618272 (3); Rhabdomyosarcoma, embryonal, 2, 180295 (3)	Dicer1 (MGI:2177178)
chr14	95181940	95319908	14q32.13	14q32.13	611121	CLMN, KIAA1188	Calmin	CLMN	79789	ENSG00000165959			Clmn (MGI:2136957)
chr14	95407266	95516650	14q32.13	14q32.13	610861	SYNE3, C14orf49	Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3)	SYNE3	161176	ENSG00000176438			Syne3 (MGI:2442408)
chr14	95535050	95544714	14q32	14q32.13	609588	GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC	Glutaredoxin 5	GLRX5	51218	ENSG00000182512		Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3), Autosomal recessive; Spasticity, childhood-onset, with hyperglycinemia, 616859 (3), Autosomal recessive	Glrx5 (MGI:1920296)
chr14	95652097	95673452	14q32.1	14q32.13	604412	TCL6, TNG1, TNG2	T-cell leukemia/lymphoma 6	TCL6	27004				
chr14	95686426	95692628	14q32.1	14q32.13	603769	TCL1B, TML1	T-cell lymphoma/leukemia 1B	TCL1B	9623	ENSG00000213231		Leukemia/lymphoma, T-cell, 603769 (2)	Tcl1b1,Tcl1b2,Tcl1b3,Tcl1b4,Tcl1b5 (MGI:1351600,MGI:1351601,MGI:1351604,MGI:1351609,MGI:1351635)
chr14	95709947	95714125	14q32.1	14q32.13	186960	TCL1A, TCL1	T-cell lymphoma/leukemia 1A	TCL1A	8115	ENSG00000100721		Leukemia/lymphoma, T-cell, 186960 (2)	Tcl1 (MGI:1097166)
chr14	95876448	95925571	14q32	14q32.2	615719	TUNAR, TUNA, LINC00617	TCL1 upstream neural differentiation-associated RNA	TUNAR	100507043	ENSG00000250366			Tunar (MGI:1917202)
chr14	96204839	96244164	14q32.1-q32.2	14q32.2	113503	BDKRB2	Bradykinin receptor B2	BDKRB2	624	ENSG00000168398			Bdkrb2 (MGI:102845)
chr14	96256210	96264763	14q32.1-q32.2	14q32.2	600337	BDKRB1	Bradykinin receptor B1	BDKRB1	623	ENSG00000100739			Bdkrb1 (MGI:88144)
chr14	96279195	96363341	14q32.2	14q32.2	616226	ATG2B	Autophagy related 2B	ATG2B	55102	ENSG00000066739			Atg2b (MGI:1923809)
chr14	96363526	96387290	14q32.2	14q32.2	616605	GSKIP, C14orf129	GSK3B-interacting protein	GSKIP	51527	ENSG00000100744			Gskip (MGI:1914037)
chr14	96392128	96489427	14q32.2	14q32.2	615364	AK7, SPGF27	Adenylate kinase 7	AK7	122481	ENSG00000140057	mutation identified in 1 SPGF27 family	?Spermatogenic failure 27, 617965 (3), Autosomal recessive	Ak7 (MGI:1926051)
chr14	96502376	96567116	14q32.1-q32.2	14q32.2	605553	PAPOLA, PAP	Poly(A) polymerase	PAPOLA	10914	ENSG00000090060			Papola (MGI:109301)
chr14	96797382	96881609	14q32	14q32.2	602168	VRK1, PCH1A, HMNR10	VRK serine/threonine kinase 1	VRK1	7443	ENSG00000100749		Pontocerebellar hypoplasia type 1A, 607596 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, autosomal recessive 10, 620542 (3), Autosomal recessive	Vrk1 (MGI:1261847)
chr14	99169287	99272197	14q32.1	14q32.2	606558	BCL11B, CTIP2, IMD49, IDDFSTA	BAF chromatin remodeling complex subunit BCL11B	BCL11B	64919	ENSG00000127152		Immunodeficiency 49, severe combined, 617237 (3), Autosomal dominant; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3), Autosomal dominant	Bcl11b (MGI:1929913)
chr14	99397748	99486458	14q32.2	14q32.2	615671	SETD3	SET domain-containing protein 3	SETD3	84193	ENSG00000183576			Setd3 (MGI:1289184)
chr14	99481409	99512440	14q32	14q32.2	603544	CCNK, IDDHDF	Cyclin K	CCNK	8812	ENSG00000090061	mutation identified in 1 IDDHDF patient	?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3), Autosomal dominant	Ccnk (MGI:1276106)
chr14	99684298	99727301	14q32.1	14q32.2	604087	CYP46A1, CYP46	Cytochrome P450, family 46, subfamily A, polypeptide 1 (cholesterol 24-hydroxylase)	CYP46A1	10858	ENSG00000036530			Cyp46a1 (MGI:1341877)
chr14	99737722	99942060	14q32	14q32.2	602033	EML1, EMAPL, EMAP, BH	Echinoderm microtubule associated protein like 1	EML1	2009	ENSG00000066629		Band heterotopia, 600348 (3), Autosomal recessive	Eml1 (MGI:1915769)
chr14	99971422	100144236	14q32.2	14q32.2	616912	EVL	ENAH/VASP-like protein	EVL	51466	ENSG00000196405			Evl (MGI:1194884)
chr14	100143957	100166886	14q32.2	14q32.2	610862	DEGS2, DES2	Delta(4)-desaturase, sphingolipid, 2	DEGS2	123099	ENSG00000168350			Degs2 (MGI:1917309)
chr14	100239144	100282788	14q	14q32.2	600013	YY1, GADEVS	YY1 transcription factor	YY1	7528	ENSG00000100811		Gabriele-de Vries syndrome, 617557 (3), Autosomal dominant	Yy1 (MGI:99150)
chr14	100278567	100306444	14q32	14q32.2	615064	SLC25A29, CACL, ORNT3	Solute carrier family 25 (carnitine/acylcarnitine translocase), member 29	SLC25A29	123096	ENSG00000197119			Slc25a29 (MGI:2444911)
chr14	100323339	100330421	14q32.31	14q32.2	609911	HDMCP, C14orf68	Hepatocellular carcinoma-downregulated mitochondrial carrier protein	SLC25A47	283600	ENSG00000140107			Slc25a47 (MGI:2144766)
chr14	100333790	100376327	14q32.31	14q32.2	191050	WARS1, WARS, HMND9, NEDMSBA	Tryptophanyl-tRNA synthetase 1	WARS1	7453	ENSG00000140105		Neuronopathy, distal hereditary motor, autosomal dominant 9, 617721 (3), Autosomal dominant; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, 620317 (3), Autosomal recessive	Wars1 (MGI:104630)
chr14	100376485	100530303	14q32	14q32.2	618059	WDR25	WD repeat-containing protein 25	WDR25	79446	ENSG00000176473			Wdr25 (MGI:3045255)
chr14	100537147	100587417	14q32.2	14q32.2	618597	BEGAIN	Brain-enriched guanylate kinase-associated protein	BEGAIN	57596	ENSG00000183092			Begain (MGI:3044626)
chr14	100726892	100738224	14q32	14q32.2	176290	DLK1, PREF1, FA1	Delta-like noncanonical NOTCH ligand 1	DLK1	8788	ENSG00000185559			Dlk1 (MGI:94900)
chr14	100826108	100861026	14q32.3	14q32.2	605636	MEG3, GTL2	Maternally expressed gene 3	MEG3	55384	ENSG00000214548	100kb from DLK1		Meg3 (MGI:1202886)
chr14	100874493	100874585	14q32.2	14q32.2	620408	MIR337	Micro RNA 337	MIR337	442905	ENSG00000199151			Mir337 (MGI:3619351)
chr14	100879753	100903722	14q32.2	14q32.2-q32.31	611896	RTL1, PEG11	Retrotransposon-like gene 1	RTL1	388015	ENSG00000254656			Rtl1 (MGI:2656842)
chr14	100881007	100881120	14q32.31	14q32.2	611708	MIR431, MIRN431	Micro RNA 431	MIR431	574038	ENSG00000208001			Mir431 (MGI:3619403)
chr14	100881886	100881978	14q32.31	14q32.2	611711	MIR433, MIRN433	Micro RNA 433	MIR433	574034	ENSG00000207569			Mir433 (MGI:3619404)
chr14	100882979	100883075	14q32.31	14q32.2	611709	MIR127, MIRN127	Micro RNA 127	MIR127	406914	ENSG00000207608			Mir127 (MGI:2676812)
chr14	100884702	100884783	14q32.31	14q32.2	611710	MIR136, MIRN136	Micro RNA 136	MIR136	406927	ENSG00000207942			Mir136 (MGI:2676821)
chr14	100889649	100999113	14q32	14q32.2-q32.31	613648	MEG8	Maternally expressed gene 8	MEG8	79104				Rian (MGI:1922995)
chr14	100897920	100897996	14q32	14q32.2	613649	SNORD112	Small nucleolar, C/D box, 112	SNORD112	692215	ENSG00000275662	located in an intron of MEG8		
chr14	100911139	100911213	14q32.31	14q32.31	612553	MIR370, MIRN370	Micro RNA 370	MIR370	442915	ENSG00000199005			Mir370 (MGI:3619375)
chr14	100924821	100924890	14q32	14q32.31	613650	SNORD113-1	Small nucleolar RNA, C/D box, 113-1	SNORD113-1	767561	ENSG00000202191			
chr14	100949833	100949903	14q32	14q32.31	613651	SNORD114-1	Small nucleolar RNA, C/D box, 114-1	SNORD114-1	767577	ENSG00000199575			
chr14	101022066	101022132	14q32.31	14q32.31	616358	MIR379	Micro RNA 379	MIR379	494328	ENSG00000199088			Mir379 (MGI:3619386)
chr14	101025017	101025077	14q32	14q32.31	613654	MIR380, MIRN380	Micro RNA 380	MIR380	494329	ENSG00000198982			Mir380 (MGI:3619389)
chr14	101029634	101029714	14q32.31	14q32.31	616036	MIR494	Micro RNA 494	MIR494	574452	ENSG00000194717			Mir494 (MGI:3619426)
chr14	101033755	101033836	14q32.31	14q32.31	615149	MIR495	Micro RNA 495	MIR495	574453	ENSG00000207743			Mir495 (MGI:3629903)
chr14	101039690	101039755	14q32.31	14q32.31	610983	MIR376C, MIR368	Micro RNA 368C	MIR376C	442913	ENSG00000283279			Mir376c (MGI:3619381)
chr14	101040069	101040148	14q32.31	14q32.31	610960	MIR376A-2, MIRN376A-2	Micro RNA 376A-2	MIR376A2	664615	ENSG00000283561			
chr14	101040436	101040535	14q32.31	14q32.31	610961	MIR376B, MIRN376B	Micro RNA 376b	MIR376B	574435	ENSG00000283556			Mir376b (MGI:3619378)
chr14	101040782	101040849	14q32.31	14q32.31	610959	MIR376A-1, MIRN376A-1	Micro RNA 376A-1	MIR376A1	494325	ENSG00000283588			Mir376a (MGI:3619377)
chr14	101046455	101046538	14q32.31	14q32.31	615037	MIR487B	Micro RNA 487B	MIR487B	664616	ENSG00000207754			Mir487b (MGI:3619424)
chr14	101054687	101054759	14q32.31	14q32.31	610164	MIR134	Micro RNA 134	MIR134	406924	ENSG00000207993			Mir134 (MGI:2676819)
chr14	101055419	101055491	14q32.31	14q32.31	615385	MIR485	Micro RNA 485	MIR485	574436	ENSG00000208027			Mir485 (MGI:3619422)
chr14	101065300	101065378	14q32.31	14q32.31	614057	MIR409, MIRN409	Micro RNA 409	MIR409	574413	ENSG00000199107			Mir409 (MGI:3619396)
chr14	101065598	101065667	14q32.31	14q32.31	611794	MIR369, MIR369-3, MIRN369-3	Micro RNA 369	MIR369	442914	ENSG00000199025			Mir369 (MGI:3619374)
chr14	101065912	101065991	14q32.31	14q32.31	615036	MIR410	Micro RNA 410	MIR410	574434	ENSG00000199092			Mir410 (MGI:3619398)
chr14	101066724	101066801	14q32.31	14q32.31	616376	MIR656	Micro RNA 656	MIR656	724026	ENSG00000207959			
chr14	101552221	101560422	14q32	14q32.31	608523	DIO3OS	Deiodinase, iodothyronine, type 3, opposite strand	DIO3OS	64150	ENSG00000258498			Dio3os (MGI:2664395)
chr14	101561495	101563452	14q32	14q32.31	601038	DIO3, TXDI3	Deiodinase, iodothyronine, type 3	DIO3	1735	ENSG00000197406			Dio3 (MGI:1306782)
chr14	101760573	101927992	14q32.31	14q32.31	601645	PPP2R5C	Protein phosphatase-2, regulatory subunit B (B56), gamma isoform	PPP2R5C	5527	ENSG00000078304	pseudogene on 3p21		Ppp2r5c (MGI:1349475)
chr14	101964573	102056443	14q32	14q32.31	600112	DYNC1H1, DNCL, DNECL, CMT2O, SMALED1, CDCBM13	Dynein, cytoplasmic-1, heavy chain-1	DYNC1H1	1778	ENSG00000197102		Charcot-Marie-Tooth disease, axonal, type 2O, 614228 (3), Autosomal dominant; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3), Autosomal dominant; Cortical dysplasia, complex, with other brain malformations 13, 614563 (3), Autosomal dominant	Dync1h1 (MGI:103147)
chr14	102080742	102139749	14q32.2	14q32.31	140571	HSP90AA1, HSPCA, HSPC1, HSP90A, HSP89A, HSPCAL4, LAP2	Heat-shock protein, 90kD, alpha, class A, member 1	HSP90AA1	3320	ENSG00000080824			Hsp90aa1 (MGI:96250)
chr14	102139423	102224839	14q32.31	14q32.31	617741	WDR20	WD repeat-containing protein 20	WDR20	91833	ENSG00000140153			Wdr20,Wdr20rt (MGI:1916891,MGI:1918198)
chr14	102214596	102305164	14q32	14q32.31	605762	MOK, RAGE	MOK protein kinase	MOK	5891	ENSG00000080823			Mok (MGI:1336881)
chr14	102348282	102362890	14q32.31	14q32.31	613362	CINP	CDK2-interacting protein	CINP	51550	ENSG00000100865			Cinp (MGI:1914486)
chr14	102362941	102502477	14q32.31	14q32.31	615000	TECPR2, KIAA0329, HSAN9	Tectonin beta-propeller repeat-containing protein 2	TECPR2	9895	ENSG00000196663		Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, 615031 (3), Autosomal recessive	Tecpr2 (MGI:2144865)
chr14	102501767	102509776	14q32.31	14q32.31	618605	ANKRD9	Ankyrin repeat domain-containing protein 9	ANKRD9	122416	ENSG00000156381			Ankrd9 (MGI:1921501)
chr14	102592649	102730561	Chr.14	14q32.31-q32.32	607675	RCOR, COREST, KIAA0071	REST corepressor	RCOR1	23186	ENSG00000089902			Rcor1 (MGI:106340)
chr14	102777449	102911500	14q32.32	14q32.32	601896	TRAF3, CD40BP, LAP1, CAP1, CRAF1, IMD132A, IMD132B	TNF receptor-associated factor 3	TRAF3	7187	ENSG00000131323	mutation identified in 1 IIAE5 patient	Immunodeficiency 132A, 614849 (3), Autosomal dominant; Immunodeficiency 132B, 621096 (3), Autosomal dominant	Traf3 (MGI:108041)
chr14	102922663	102930842	14q32	14q32.32	605799	AMN, IGS2	Amnion associated transmembrane protein	AMN	81693	ENSG00000166126		Imerslund-Grasbeck syndrome 2, 618882 (3), Autosomal recessive	Amn (MGI:1934943)
chr14	102932380	103057549	14q32.3	14q32.32	614062	CDC42BPB, MRCKB, CHOCNS	CDC42-binding protein kinase, beta	CDC42BPB	9578	ENSG00000198752		Chilton-Okur-Chung neurodevelopmental syndrome, 619841 (3), Autosomal dominant	Cdc42bpb (MGI:2136459)
chr14	103094174	103110559	14q32.32	14q32.32	621085	EXOC3L4	Exocyst complex component 3-like 4	EXOC3L4	91828	ENSG00000205436			Exoc3l4 (MGI:1921363)
chr14	103121469	103137439	14q32	14q32.32	603300	TNFAIP2	Tumor necrosis factor, alpha-induced protein-2	TNFAIP2	7127	ENSG00000185215			Tnfaip2 (MGI:104960)
chr14	103334237	103345025	14q32.3	14q32.32	601710	EIF5	Eukaryotic translation initiation factor 5	EIF5	1983	ENSG00000100664			Eif5 (MGI:95309)
chr14	103385415	103503831	14q32.3	14q32.32-q32.33	602678	MARK3, VIPB	MAP/microtubule affinity-regulating kinase-3	MARK3	4140	ENSG00000075413	mutation identified in 1 VIPB family	?Visual impairment and progressive phthisis bulbi, 618283 (3), Autosomal recessive	Mark3 (MGI:1341865)
chr14	103500001	107043718	14q32.33		144120	IGHR	Immunoglobulin heavy chain regulator					?Hyperimmunoglobulin G1 syndrome, 144120 (2), Autosomal dominant	
chr14	103519667	103522830	14q32	14q32.33	123280	CKB, CKBB, BCK	Creatine kinase, brain type	CKB	1152	ENSG00000166165	distal to PI and AACT; closely linked to AKT1 and IGH; proximal to IGH		Ckb (MGI:88407)
chr14	103529196	103537073	14q32.33	14q32.33	620885	TRMT61A	tRNA methyltransferase 61A	TRMT61A	115708	ENSG00000166166			Trmt61a (MGI:2443487)
chr14	103556551	103562657	14q32.33	14q32.33	603885	BAG5, CMD2F	BAG cochaperone 5	BAG5	9529	ENSG00000166170		Cardiomyopathy, dilated, 2F, 619747 (3), Autosomal recessive	Bag5 (MGI:1917619)
chr14	103562960	103590899	14q32.33	14q32.33	616003	APOPT1, APOP, MC4DN17	Apoptogenic protein 1, mitochondrial	COA8	84334	ENSG00000256053		Mitochondrial complex IV deficiency, nuclear type 17, 619061 (3), Autosomal recessive	Coa8 (MGI:1915270)
chr14	103629211	103701544	14q32.3	14q32.33	600025	KLC1, KNS2, KNS2A	Kinesin, light chain 1	KLC1	3831	ENSG00000126214			Klc1 (MGI:107978)
chr14	103697617	103715451	14q32.3	14q32.33	600675	XRCC3, CMM6	X-ray repair corss complementing 3	XRCC3	7517	ENSG00000126215		{Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; {Melanoma, cutaneous malignant, 6}, 613972 (3)	Xrcc3 (MGI:1921585)
chr14	103715810	103733664	14q32.33	14q32.33	613504	ZFYVE21, ZF21	Zinc finger FYVE domain-containing protein 21	ZFYVE21	79038	ENSG00000100711			Zfyve21 (MGI:1915770)
chr14	103733195	103848814	14q32.33	14q32.33	606455	PPP1R13B, ASPP1, KIAA0771	Protein phosphatase 1, regulatory subunit 13B	PPP1R13B	23368	ENSG00000088808			Ppp1r13b (MGI:1336199)
chr14	103847721	103858049	14q32	14q32.33	620544	PPP1R13BDT, HITT, LINC00637	PPP1R13B divergent transcript, noncoding	PPP1R13B-DT	145216	ENSG00000258735			
chr14	103912288	103921529	14q32.33	14q32.33	604573	ATP5MPL, C14orf2, MP68	ATP synthase membrane subunit 6.8PL	ATP5MJ	9556	ENSG00000156411			Atp5mj (MGI:1917507)
chr14	103928456	104052667	14q32.33	14q32.33	617963	TDRD9, C14orf75, HLS, SPNE, SPGF30	TUDOR domain-containing protein 9	TDRD9	122402	ENSG00000156414	mutation identified in one SPGF30 family	?Spermatogenic failure 30, 618110 (3), Autosomal recessive	Tdrd9 (MGI:1921941)
chr14	104085700	104115582	14q32.33	14q32.33	618472	ASPG, LYSOLP	Asparaginase	ASPG	374569	ENSG00000166183			Aspg (MGI:2144822)
chr14	104117405	104117514	14q32.33	14q32.33	611899	MIR203A, MIRN203	Micro RNA 203A	MIR203A	406986	ENSG00000207568			Mir203 (MGI:2676878)
chr14	104138587	104180894	14q32.33	14q32.33	613231	KIF26A, KIAA1236, CDCBM11	Kinesin family member 26A	KIF26A	26153	ENSG00000066735		Cortical dysplasia, complex, with other brain malformations 11, 620156 (3), Autosomal recessive	Kif26a (MGI:2447072)
chr14	104579764	104590515	14q32.33	14q32.33	619392	C14orf180, NRAC	Chromosome 14 open reading frame 180	C14orf180	400258	ENSG00000184601			A530016L24Rik (MGI:2443020)
chr14	104681133	104722535	14q32.33	14q32.33	610982	INF2, FSGS5, C14orf173, CMTDIE	Inverted formin 2	INF2	64423	ENSG00000203485		Glomerulosclerosis, focal segmental, 5, 613237 (3); Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3), Autosomal dominant	Inf2 (MGI:1917685)
chr14	104724229	104747325	14q32.33	14q32.33	612498	ADSS1, ADSSL1, MPD5	Adenylosuccinate synthase 1	ADSS1	122622	ENSG00000185100		Myopathy, distal, 5, 617030 (3), Autosomal recessive	Adss1 (MGI:87947)
chr14	104753147	104759654	14q32.33	14q32.33	605567	SIVA1, CD27BP	SIVA apoptosis-inducing factor 1	SIVA1	10572	ENSG00000184990			Siva1 (MGI:1353606)
chr14	104769349	104795748	14q32.3	14q32.33	164730	AKT1, CWS6	AKT serine/threonine kinase 1	AKT1	207	ENSG00000142208	proximal to IGH	Breast cancer, somatic, 114480 (3); Cowden syndrome 6, 615109 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Proteus syndrome, somatic, 176920 (3); Ovarian cancer, somatic, 167000 (3)	Akt1 (MGI:87986)
chr14	104800554	104804712	14q32.33	14q32.33	613915	ZBTB42, ZNF925, LCCS6	Zinc finger- and BTB domain-containing protein 42	ZBTB42	100128927	ENSG00000179627	mutation identified in 1 LCCS6 family	?Lethal congenital contracture syndrome 6, 616248 (3), Autosomal recessive	Zbtb42 (MGI:3644133)
chr14	104864513	104896747	14q32.33	14q32.33	620251	CEP170B, KIAA0284	Centrosomal protein 170B	CEP170B	283638	ENSG00000099814			Cep170b (MGI:2145043)
chr14	104924879	104937785	14q32.33	14q32.33	618488	PLD4	Phospholipase D family, member 4	PLD4	122618	ENSG00000166428			Pld4 (MGI:2144765)
chr14	104937253	104978374	14q32.33	14q32.33	608570	AHNAK2, C14orf78, KIAA2019	AHNAK nucleoprotein 2	AHNAK2	113146	ENSG00000185567			Ahnak2 (MGI:2144831)
chr14	105009573	105021083	14q32.33	14q32.33	612270	CDCA4, HEPP	Cell division cycle-associated protein 4	CDCA4	55038	ENSG00000170779			Cdca4 (MGI:1919213)
chr14	105049395	105065430	14q32.3	14q32.33	606167	GPR132, G2A	G protein-coupled receptor-132	GPR132	29933	ENSG00000183484			Gpr132 (MGI:1890220)
chr14	105140995	105168776	14q32	14q32.33	602570	JAG2, LGMDR27	Jagged 2	JAG2	3714	ENSG00000184916		Muscular dystrophy, limb-girdle, autosomal recessive 27, 619566 (3), Autosomal recessive	Jag2 (MGI:1098270)
chr14	105172939	105181312	14q32.33	14q32.33	609219	NUDT14, UGPP	Nudix hydrolase 14	NUDT14	256281	ENSG00000183828			Nudt14 (MGI:1913424)
chr14	105209286	105315589	14q32.33	14q32.33	604902	BRF1, TAF3C, GTF3B, TF3B90, CFDS	BRF1, S. cerevisiae, homolog of (TATA box-binding protein-associated factor 3C)	BRF1	2972	ENSG00000185024		Cerebellofaciodental syndrome, 616202 (3), Autosomal recessive	Brf1 (MGI:1919558)
chr14	105300774	105398147	14q32.33	14q32.33	610423	PACS2, KIAA0602, DEE66	Phosphofurin acidic cluster sorting protein 2	PACS2	23241	ENSG00000179364		Developmental and epileptic encephalopathy 66, 618067 (3), Autosomal dominant	Pacs2 (MGI:1924399)
chr14	105419827	105470729	14q32.3	14q32.33	603526	MTA1	Metastasis-associated gene 1	MTA1	9112	ENSG00000182979			Mta1 (MGI:2150037)
chr14	105472945	105480170	14q32.3	14q32.33	601183	CRIP2, CRP2	Cysteine-rich intestinal protein 2	CRIP2	1397	ENSG00000182809			Crip2 (MGI:1915587)
chr14	105486886	105488947	14q32.33	14q32.33	123875	CRIP1, CRIP	Cysteine-rich intestinal protein 1	CRIP1	1396	ENSG00000213145	previously assigned to 7q11.23		Crip1 (MGI:88501)
chr14	105586437	106879844	14q32.33	14q32.33	146910	IGHD@	Immunoglobulin heavy chain diversity gene cluster	IGH	3492		many genes		
chr14	105586437	106879844	14q32.33	14q32.33	147010	IGHJ@	Immunoglobulin heavy chain joining gene cluster	IGH	3492		more than 4 genes		
chr14	105586437	106879844	14q32.33	14q32.33	147070	IGHV@	Immunoglobin heavy polypeptide, variable gene cluster	IGH	3492		~250 genes; orientation: cen-PI-D14S1-IGH-IGHV--qter; 3' centromeric, 5' telomeric; IgM telomeric to IgG		
chr14	105586937	105588394	14q32.33	14q32.33	147000	IGHA2, A2M	Constant region of heavy chain of IgA2		3494	ENSG00000211890			Igha (MGI:96444)
chr14	105600066	105601727	14q32.33	14q32.33	147180	IGHE	Constant region of heavy chain of IgE		3497	ENSG00000211891	pseudogene IGHEP1 nearby; IGHEP2 on chr.9		Ighe (MGI:2685746)
chr14	105624476	105626065	14q32.33	14q32.33	147130	IGHG4	Constant region of heavy chain of IgG4		3503	ENSG00000211892			Ighg,Ighg1,Ighg2a,Ighg2b,Ighg2c,Ighg3 (MGI:2144790,MGI:2144967,MGI:2686979,MGI:96443,MGI:96445,MGI:96446)
chr14	105643203	105644789	14q32.33	14q32.33	147110	IGHG2	Constant region of heavy chain of IgG2		3501	ENSG00000211893	5'-G2-17kb-G4-3'; closeness of IGG3 and IGG1 known from Lepore-like myeloma protein	IgG2 deficiency, selective (3)	Ighg,Ighg1,Ighg2a,Ighg2b,Ighg2c,Ighg3 (MGI:2144790,MGI:2144967,MGI:2686979,MGI:96443,MGI:96445,MGI:96446)
chr14	105707168	105708664	14q32.33	14q32.33	146900	IGHA1	Constant region of heavy chain of IgA1		3493	ENSG00000211895	Fused with IRTA1 in multiple myeloma		Igha (MGI:96444)
chr14	105741473	105743070	14q32.33	14q32.33	147100	IGHG1	Constant region of heavy chain of IgG1		3500	ENSG00000211896			Ighg,Ighg1,Ighg2a,Ighg2b,Ighg2c,Ighg3 (MGI:2144790,MGI:2144967,MGI:2686979,MGI:96443,MGI:96445,MGI:96446)
chr14	105765914	105771405	14q32.33	14q32.33	147120	IGHG3	Constant region of heavy chain of IgG3		3502	ENSG00000211897			Ighg,Ighg1,Ighg2a,Ighg2b,Ighg2c,Ighg3 (MGI:2144790,MGI:2144967,MGI:2686979,MGI:96443,MGI:96445,MGI:96446)
chr14	105838401	105845677	14q32.33	14q32.33	147170	IGHD	Constant region of heavy chain of IgD		3495	ENSG00000211898			Ighd (MGI:96447)
chr14	105851966	105856217	14q32.33	14q32.33	147020	IGHM, MU, AGM1	Constant region of heavy chain of IgM		3507	ENSG00000211899		Agammaglobulinemia 1, 601495 (3), Autosomal recessive	Ighm (MGI:96448)
chr14	105914359	105914389	14q32.33	14q32.33	611937	IGHD3-3, DXP4	Immunoglobulin heavy chain diversity gene 3-3		28501	ENSG00000211930			
chr14	105917979	105932642	14q32.33	14q32.33	616623	KIAA0125, FAM30A, C14orf110	KIAA0125 gene, noncoding	FAM30A	9834	ENSG00000226777			
chr14	106268606	106269061	14q32.33	14q32.33	611939	IGHV3-23, IGHV323, DP47, VH26	Immunoglobulin heavy chain variable gene 3-23		28442	ENSG00000211949			Ighv5-12,Ighv5-12-4,Ighv5-4,Ighv5-6,Ighv5-9,Ighv5-9-1 (MGI:3645977,MGI:4439516,MGI:4439810,MGI:4439815,MGI:4439873,MGI:4439895)
chr14	1	107043718	Chr.14		151020	LCH	Lentil agglutinin-binding						
chr14	1	107043718	Chr.14		608251	PHOBS	Phobia, specific		404684			Phobia, specific, 608251 (2)	
chr14	1	107043718	Chr.14		616606	RC14S	Ring chromosome 14 syndrome					Ring chromosome 14 syndrome, 616606 (4), Isolated cases	
chr15	4200001	9700000	15p12		180452	RNR3	Ribosomal RNA-3		6054				
chr15	19000001	33400000	15q11-q13		607202	CELIAC5, GSES	Celiac disease, susceptibility to, 5		338332		in homogeneous Finnish population	{Celiac disease, susceptibility to, 5}, 607202 (2)	
chr15	19000001	25500000	15q11		608636	DUP15q11-q13, C15DUPq11-q13, AUTS4	Chromosome 15q11-q13 duplication syndrome					Chromosome 15q11-q13 duplication syndrome, 608636 (4), Autosomal dominant	
chr15	19000001	33400000	15q11-q13		609745	GLC1I	Glaucoma 1, open angle, I		497188		max lod at GABRB3	Glaucoma 1, open angle, I, 609745 (2)	
chr15	19000001	101991189	15q11-qter		122460	HCVS	Human coronavirus sensitivity		3063			{Human coronavirus sensitivity}, 122460 (2), Autosomal dominant	
chr15	19000001	101991189	15q		604329	HYT2	Hypertension, essential, susceptibility to, 2		50986			{Hypertension, essential, susceptibility to, 2}, 145500 (2), Multifactorial	
chr15	19000001	27800000	15q11-q12		146990	IGHDY2	Immunoglobulin heavy chain diversity region-2		3496		?functional		
chr15	19000001	101991189	15q		214900	LCS1, CHLS	Cholestasis-lymphedema syndrome		84565			Cholestasis-lymphedema syndrome, 214900 (2), Autosomal recessive	
chr15	19000001	33400000	15q11-q13		603857	MRKN3-AS1, ZNF127AS	MKRN3 antisense RNA 1		10108				
chr15	19000001	33400000	15q11-q13		176270	PWS	Prader-Willi syndrome				loss of paternal allele	Prader-Willi syndrome, 176270 (4), Autosomal dominant	
chr15	20500001	25500000	15q11.2		615656	DEL15q11.2, C15DELq11.2	Chromosome 15q11.2 deletion syndrome				deleted region spans 300-500kb between BP1 and BP2	Chromosome 15q11.2 deletion syndrome, 615656 (4), Autosomal dominant	
chr15	20500001	27800000	15q11.2-q12		609179	MGR7	Migraine with aura, susceptibility to, 7		553992		between D15S113 and D15S1019	{Migraine with aura, susceptibility to, 7}, 609179 (2)	
chr15	20669468	20756151	15q11.2	15q11.2	601889	NBEAP1, BCL8	Neurobeachin pseudogene 1	NBEAP1	606				
chr15	21846329	21877735	15q11.2	15q11.2	608912	POTEB, POTE15	POTE ankyrin domain family, member B	POTEB	100996331	ENSG00000233917			Ankrd68,Potefam1,Potefam2 (MGI:1914825,MGI:1918231,MGI:3644757)
chr15	22786225	22829789	15q11.1	15q11.2	608145	NIPA1, SPG6	NIPA magnesium transporter 1	NIPA1	123606	ENSG00000170113		Spastic paraplegia 6, autosomal dominant, 600363 (3), Autosomal dominant	Nipa1 (MGI:2442058)
chr15	22838666	22868384	15q11.2	15q11.2	608146	NIPA2	NIPA magnesium transporter 2	NIPA2	81614	ENSG00000140157			Nipa2 (MGI:1913918)
chr15	22867052	22980898	15q11	15q11.2	606322	CYFIP1, KIAA0068	Cytoplasmic FMRP interacting protein 1	CYFIP1	23191	ENSG00000273749			Cyfip1 (MGI:1338801)
chr15	22983025	23039569	15q11.2	15q11.2	608147	TUBGCP5, GCP5, KIAA1899	Tubulin-gamma complex-associated protein 5	TUBGCP5	114791	ENSG00000275835			Tubgcp5 (MGI:2178836)
chr15	23565674	23568044	15q11-q13	15q11.2	603856	MKRN3, ZFP127, ZNF127, CPPB2	Makorin 3	MKRN3	7681	ENSG00000179455	expressed only from paternal allele	Precocious puberty, central, 2, 615346 (3), Autosomal dominant	Mkrn3 (MGI:2181178)
chr15	23643549	23647867	15q11.2	15q11.2	605283	MAGEL2, NDNL1, SHFYNG	MAGE-like 2	MAGEL2	54551	ENSG00000254585		Schaaf-Yang syndrome, 615547 (3), Autosomal dominant	Magel2 (MGI:1351648)
chr15	23685400	23687305	15q11-q13	15q11.2	602117	NDN	Necdin	NDN	4692	ENSG00000182636	involved in Prader-Willi syndrome		Ndn (MGI:97290)
chr15	24164777	24169948	15q11.2	15q11.2	611217	PWRN2	Prader-Willi region noncoding RNA 2	PWRN2	791115	ENSG00000260551			
chr15	24558157	24587780	15q11.2	15q11.2	611215	PWRN1	Prader-Willi region noncoding RNA 1	PWRN1	791114	ENSG00000259905			
chr15	24675775	24683393	15q11.2	15q11.2	610922	NPAP1, C15orf2	Nuclear pore associated protein 1	NPAP1	23742	ENSG00000185823			
chr15	24823608	25419462	15q11.2	15q11.2	616259	SNHG14, LNCAT, UBE3AATS	Small nucleolar RNA host gene 14	SNHG14	104472715				
chr15	24823637	24978723	15q12	15q11.2	182279	SNRPN	Small nuclear ribonucleoprotein polypeptide N	SNRPN	6638	ENSG00000128739	involved in Prader-Willi syndrome		Snrpn (MGI:98347)
chr15	24984860	24988232	15q11-q13	15q11.2	600162	D15S226E, PAR5	Prader-Willi/Angelman syndrome-5	PWAR5	8123	ENSG00000279192	paternally imprinted		
chr15	25051476	25051572	15q11.2	15q11.2	605436	SNORD116-1, PWCR1	Small nucleolar RNA, C/D box, 116-1	SNORD116-1	100033413	ENSG00000207063			
chr15	25116545	25122476	15q11-q13	15q11.2	601491	IPW	Imprinted in Prader-Willi syndrome	IPW	3653				
chr15	25135642	25138053	15q11-q13	15q11.2	600161	D15S227E, PAR1	Prader-Willi/Angelman region-1	PWAR1	145624	ENSG00000279050	paternally imprinted		
chr15	25170723	25170804	15q11.2	15q11.2	609837	SNORD115-1, RNHBII52	Small nucleolar RNA, C/D box, 115-1	SNORD115-1	338433	ENSG00000201831			
chr15	25333728	25439056	15q11-q13	15q11.2	601623	UBE3A, ANCR	Ubiquitin protein ligase E3A	UBE3A	7337	ENSG00000114062	same location as PWS	Angelman syndrome, 105830 (3), Autosomal dominant	Ube3a (MGI:105098)
chr15	25500001	27800000	15q12		610321	HPC7	Prostate cancer, hereditary, 7		100188809			{Prostate cancer, hereditary, 7}, 610321 (2)	
chr15	25500001	44500000	15q12-q15		605738	MCOPCB2	Microphthalmia/coloboma 2		80771			Microphthalmia/coloboma 2, 605738 (2), Autosomal dominant	
chr15	25672237	25865088	15q11-q13	15q12	605855	ATP10A, ATP10C, ATPVC	ATPase, phospholipid-transporting, 10A	ATP10A	57194	ENSG00000206190			Atp10a (MGI:1330809)
chr15	26543552	26773763	15q11.2-q12	15q12	137192	GABRB3, ECA5, DEE43	Gamma-aminobutyric acid (GABA) A receptor, beta-3	GABRB3	2562	ENSG00000166206		{Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3); Developmental and epileptic encephalopathy 43, 617113 (3), Autosomal dominant	Gabrb3 (MGI:95621)
chr15	26866719	26949208	15q11.2-q12	15q12	137142	GABRA5, DEE79	Gamma-aminobutyric acid (GABA) A receptor, alpha-5	GABRA5	2558	ENSG00000186297	100kb from GABRB3	Developmental and epileptic encephalopathy 79, 618559 (3), Autosomal dominant	Gabra5 (MGI:95617)
chr15	26971181	27541984	15q11.2-q12	15q12	600233	GABRG3	Gamma-aminobutyric acid (GABA) A receptor, gamma-3	GABRG3	2567	ENSG00000182256	cen--G3--A5--B3		Gabrg3 (MGI:95624)
chr15	27719008	28099315	15q11.2-q12	15q12-q13.1	611409	OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1	Pink-eye dilution, murine, homolog of (oculocutaneous albinism II)	OCA2	4948	ENSG00000104044	?hypopigmentation in PWS and AS	[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; Albinism, brown oculocutaneous, 203200 (3), Autosomal recessive; Albinism, oculocutaneous, type II, 203200 (3), Autosomal recessive	Oca2 (MGI:97454)
chr15	27800001	44500000	15q13-q15		109710	B2MR	Beta-2-microglobulin regulator		568				
chr15	27800001	42500000	15q13.1-q15.1		608646	CILD4	Ciliary dyskinesia, primary, 4		408257		between D15S1012 and D15S1048	Ciliary dyskinesia, primary, 4, 608646 (2), Autosomal recessive	
chr15	27800001	39800000	15q13-q14		601228	HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq	Polyposis syndrome, hereditary mixed 1				duplication of 40kb of 15q resulting in overexpression of GREM1	Polyposis syndrome, hereditary mixed 1, 601228 (4), Autosomal dominant; {Colorectal cancer, susceptibility to, 4}, 601228 (4), Autosomal dominant	
chr15	27800001	33400000	15q13		613025	SCZD13	Schizophrenia 13		100329170		associated with deletion at 15q13.3	{Schizophrenia, susceptibility to, 13}, 613025 (2)	
chr15	27800001	33400000	15q13		208500	SRTD1, ATD1	Short-rib thoracic dysplasia 1 with or without polydactyly		465			Short-rib thoracic dysplasia 1 with or without polydactyly, 208500 (2), Autosomal recessive	
chr15	28111040	28322179	15q13.1	15q13.1	605837	HERC2, SHEP1, MRT38	HECT domain and RCC1-like domain 2	HERC2	8924	ENSG00000128731	mutations in intron 4	Intellectual developmental disorder, autosomal recessive 38, 615516 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive	Herc2 (MGI:103234)
chr15	28885974	29118315	15q	15q13.1	602712	APBA2	Amyloid beta A4 precursor protein-binding, family A, member 2	APBA2	321	ENSG00000034053			Apba2 (MGI:1261791)
chr15	29117712	29675409	15q13.1	15q13.1	620052	ENTREP2, TMEM228, FAM189A1, KIAA0574	Endosomal transmembrane epsin interactor 2	ENTREP2	23359	ENSG00000104059			Entrep2 (MGI:1917888)
chr15	29264989	29269822	15q13.1	15q13.1	608243	NSMCE3, NDNL2, MAGEG1, LICS	NSE3 homolog, SMC5-SMC6 complex component	NSMCE3	56160	ENSG00000185115		Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3), Autosomal recessive	Nscme3l,Nsmce3 (MGI:1913897,MGI:1922805)
chr15	29699367	29969049	15q13	15q13.1	601009	TJP1	Tight junction protein 1 (zona occludens 1)	TJP1	7082	ENSG00000104067			Tjp1 (MGI:98759)
chr15	30360566	30393900	15q13.2	15q13.2	609756	CHRFAM7A	CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion	CHRFAM7A	89832	ENSG00000166664			Chrna7 (MGI:99779)
chr15	30626128	30649229	15q13.2	15q13.2	616310	ARHGAP11B, FAM7B1	RHO GTPase-activating protein 11B	ARHGAP11B	89839	ENSG00000285077			Arhgap11a (MGI:2444300)
chr15	30900001	33400000	15q13.3		612001	DEL15q13.3, MICRODEL15q13.3	Chromosome 15q13.3 microdeletion syndrome					Chromosome 15q13.3 microdeletion syndrome, 612001 (4)	
chr15	30903852	30943108	15q13.2-q13.3	15q13.3	613534	FAN1, MTMR15, KIAA1018, KMIN	FANCD2/FANCI-associated nuclease 1	FAN1	22909	ENSG00000198690		Interstitial nephritis, karyomegalic, 614817 (3), Autosomal recessive	Fan1 (MGI:3045266)
chr15	31001065	31161160	15q13-q14	15q13.3	603576	TRPM1, MLSN1, CSNB1C	Transient receptor potential cation channel, subfamily M, member 1 (melastatin)	TRPM1	4308	ENSG00000134160		Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3), Autosomal recessive	Trpm1 (MGI:1330305)
chr15	31065032	31065141	15q13.3	15q13.3	613753	MIR211, MIRN211	Micro RNA 211	MIR211	406993	ENSG00000207702			Mir211 (MGI:2676887)
chr15	31326835	31435665	15q12	15q13.3	605328	KLF13, RFLAT1, FKLF2	Kruppel-like factor 13	KLF13	51621	ENSG00000169926			Klf13 (MGI:1354948)
chr15	31475398	31870673	15q13.3	15q13.3	612024	OTUD7A, OTUD7, C16orf15, CEZANNE2, NEDHS	OTU domain-containing protein 7A	OTUD7A	161725	ENSG00000169918		Neurodevelopmental disorder with hypotonia and seizures, 620790 (3), Autosomal recessive	Otud7a (MGI:2158505)
chr15	32030483	32173018	15q14	15q13.3	118511	CHRNA7	Cholinergic receptor, nicotinic, alpha polypeptide-7	CHRNA7	1139	ENSG00000175344			Chrna7 (MGI:99779)
chr15	32615144	32639941	15q13.2	15q13.3	610589	ARHGAP11A, KIAA0013	RHO GTPase-activating protein 11A	ARHGAP11A	9824	ENSG00000198826			Arhgap11a (MGI:2444300)
chr15	32641710	32697092	15q11-q15	15q13.3	173120	SCG5, SGNE1	Secretogranin V (7B2 protein )	SCG5	6447	ENSG00000166922			Scg5 (MGI:98289)
chr15	32718004	32745106	15q13-q15	15q13.3	603054	GREM1, CKTSF1B1	Gremlin 1, DAN family BMP antagonist	GREM1	26585	ENSG00000166923			Grem1 (MGI:1344337)
chr15	32765544	33194714	15q13-q14	15q13.3	136535	FMN, LD	Formin (limb deformity)	FMN1	342184	ENSG00000248905			Fmn1 (MGI:101815)
chr15	33310967	33866102	15q14-q15	15q13.3-q14	180903	RYR3, CMYO20	Ryanodine receptor-3	RYR3	6263	ENSG00000198838		Congenital myopathy 20, 620310 (3), Autosomal recessive	Ryr3 (MGI:99684)
chr15	33400001	39800000	15q14		616898	DEL15q14, C15DELq14	Chromosome 15q14 deletion syndrome					Chromosome 15q14 deletion syndrome, 616898 (4), Autosomal dominant	
chr15	33400001	39800000	15q14		604827	EIG7, EJM2	Epilepsy, idiopathic generalized, susceptibility to, 7		50715		?role of CHRNA7	{Epilepsy, idiopathic generalized, susceptibility to, 7}, 604827 (2), Isolated cases; Epilepsy, juvenile myoclonic, 604827 (2), Isolated cases	
chr15	33968497	34067458	15q26	15q14	118496	CHRM5	Cholinergic receptor, muscarinic, 5	CHRM5	1133	ENSG00000184984			Chrm5 (MGI:109248)
chr15	33851781	34075325	Chr.15	15q14	605265	AVEN	Cell death regulator AVEN	AVEN	57099	ENSG00000169857			Aven (MGI:1921518)
chr15	34084017	34101862	15q14	15q14	620631	EMC7	Endoplasmic reticulum membrane protein complex, subunit 7	EMC7	56851	ENSG00000134153			Emc7 (MGI:1920274)
chr15	34140674	34210096	15q14	15q14	616235	KATNBL1, C15orf29	Katanin, p80 subunit, B-like 1	KATNBL1	79768	ENSG00000134152			Katnbl1 (MGI:1919675)
chr15	34225016	34230156	15q14	15q14	616245	EMC4, TMEM85, PIG17	ER membrane protein complex subunit 4	EMC4	51234	ENSG00000128463			Emc4 (MGI:1915282)
chr15	34229784	34338057	15q13-q14	15q14	604878	SLC12A6, KCC3A, KCC3B, KCC3, ACCPN, CMT2II	Solute carrier family 12 (potassium/chloride transporters), member 6	SLC12A6	9990	ENSG00000140199		Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2II, 620068 (3), Autosomal dominant	Slc12a6 (MGI:2135960)
chr15	34341719	34343136	15q14-q15	15q14	606471	NOP10, NOLA3, DKCB1, PFBMFT9, CHINE2	NOP10 ribonucleoprotein	NOP10	55505	ENSG00000182117	mutation identified in 1 PFBMFT9 family and 1 DKCB1 family and 1 CHINE2 family	?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, 620400 (3), Autosomal dominant; ?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2, 620425 (3), Autosomal recessive; ?Dyskeratosis congenita, autosomal recessive 1, 224230 (3), Autosomal recessive	Nop10 (MGI:1913431)
chr15	34343315	34357735	15q14	15q14	608963	NUTM1	NUT midline carcinoma family member 1	NUTM1	256646	ENSG00000184507			Nutm1 (MGI:2661384)
chr15	34358633	34367196	15q14	15q14	612039	AGPAT7, AYTL3	1-acylglycerol-3-phosphate O-acyltransferase 7	LPCAT4	254531	ENSG00000176454			Lpcat4 (MGI:2138993)
chr15	34379068	34437808	15q14	15q14	616180	GOLGA8A, KIAA0855	Golgin A8 family, member A	GOLGA8A	23015	ENSG00000175265			
chr15	34525095	34583651	15q14	15q14	609619	GOLGA8B, KIAA0855	Golgin A8 family, member B	GOLGA8B	440270	ENSG00000215252			
chr15	34751032	34754998	15q14	15q14	607058	GJD2, GJA9, CX36	Gap junction protein, delta-2 (connexin 36)	GJD2	57369	ENSG00000159248			Gjd2 (MGI:1334209)
chr15	34790230	34795549	15q14	15q14	102540	ACTC1, CMD1R, CMH11, ASD5, LVNC4	Actin, alpha, cardiac muscle	ACTC1	70	ENSG00000159251		Left ventricular noncompaction 4, 613424 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 11, 612098 (3), Autosomal dominant; Atrial septal defect 5, 612794 (3), Autosomal dominant; Cardiomyopathy, dilated, 1R, 613424 (3), Autosomal dominant	Actc1 (MGI:87905)
chr15	34851782	34969742	15q14	15q14	610548	AQR, IBP160, KIAA0560	Aquarius, mouse, homolog of	AQR	9716	ENSG00000021776			Aqr (MGI:1276102)
chr15	35144977	35546165	5q14	15q14	618391	DPH6	Diphthamide biosynthesis protein 6	DPH6	89978	ENSG00000134146			Dph6 (MGI:1913882)
chr15	36579626	36810244	15q14	15q14	615626	CDIN1, C15orf41	CDAN1-interacting nuclease 1	CDIN1	84529	ENSG00000186073		Dyserythropoietic anemia, congenital, type Ib, 615631 (3), Autosomal recessive	Cdin1 (MGI:3026886)
chr15	36889204	37101311	15q14-q25	15q14	601740	MEIS2, MRG1, CPCMR	Meis homeobox 2	MEIS2	4212	ENSG00000134138		Cleft palate, cardiac defects, and impaired intellectual development, 600987 (3), Autosomal dominant	Meis2 (MGI:108564)
chr15	38252836	38357249	15q13.2	15q14	609291	SPRED1, NFLS, LGSS	Sprouty-related EVH1 domain-containing protein 1	SPRED1	161742	ENSG00000166068		Legius syndrome, 611431 (3), Autosomal dominant	Spred1 (MGI:2150016)
chr15	38454127	38487710	15q14	15q14	616142	FAM98B	Family with sequence similarity 98, member B	FAM98B	283742	ENSG00000171262			Fam98b (MGI:1915465)
chr15	38488103	38564814	15q15	15q14	603962	RASGRP1, IMD64	Ras guanyl nucleotide releasing protein-1	RASGRP1	10125	ENSG00000172575		Immunodeficiency 64, 618534 (3), Autosomal recessive	Rasgrp1 (MGI:1314635)
chr15	39581079	39599466	15q15	15q14	188060	THBS1	Thrombospondin 1	THBS1	7057	ENSG00000137801			Thbs1 (MGI:98737)
chr15	39597440	39782841	15q14	15q14	615795	FSIP1, HSD10	Fibrous sheath-interacting protein 1	FSIP1	161835	ENSG00000150667			Fsip1 (MGI:1918563)
chr15	39799008	39920266	15q14-q15	15q14-q15.1	612183	GPR176	G protein-coupled receptor 176	GPR176	11245	ENSG00000166073			Gpr176 (MGI:2685858)
chr15	39800001	44500000	15q15		605419	SCZD10	Schizophrenia 10		63944		between D15S1042 and D15S659	{Schizophrenia 10}, 605419 (2), Autosomal dominant	
chr15	39934115	40035591	15q15.1	15q15.1	609280	EIF2AK4, GCN2, KIAA1338, PVOD2	Eukaryotic translation initiation factor 2-alpha kinase 4	EIF2AK4	440275	ENSG00000128829		Pulmonary venoocclusive disease 2, 234810 (3), Autosomal recessive	Eif2ak4 (MGI:1353427)
chr15	40035690	40039202	15q22	15q15.1	600708	SRP14, ALURBP	Signal recognition particle, 14kD	SRP14	6727	ENSG00000140319			Srp14 (MGI:107169)
chr15	40087890	40108879	15q14	15q15.1	606266	BMF	BCL2-modifying factor	BMF	90427	ENSG00000104081			Bmf (MGI:2176433)
chr15	40161069	40221123	15q15	15q15.1	602860	BUB1B, BUBR1, MVA1	BUB1 mitotic checkpoint serine/threonine kinase B	BUB1B	701	ENSG00000156970		Colorectal cancer, somatic, 114500 (3); [Premature chromatid separation trait], 176430 (3), Autosomal dominant; Mosaic variegated aneuploidy syndrome 1, 257300 (3), Autosomal recessive	Bub1b (MGI:1333889)
chr15	40239063	40277487	15q15.1	15q15.1	608110	PAK6	p21-activated kinase 6	PAK6	56924	ENSG00000137843			Pak6 (MGI:2679420)
chr15	40284256	40307935	15q15	15q15.1	604114	PLCB2	Phospholipase C, beta-2	PLCB2	5330	ENSG00000137841		Platelet PLC beta-2 deficiency (1)	Plcb2 (MGI:107465)
chr15	40358219	40378621	15q15.1	15q15.1	607503	DISP2, DISPB, KIAA1742	Dispatched RND transporter family, member 2	DISP2	85455	ENSG00000140323			Disp2 (MGI:2388733)
chr15	40382721	40394288	15q15.1	15q15.1	614718	KNSTRN, C15orf23, SKAP, ROCHIS	Kinetochore-localized astrin/SPAG5 binding protein	KNSTRN	90417	ENSG00000128944	mutation identified in 1 ROCHIS family	?Roifman-Chitayat syndrome, digenic, 613328 (3), Digenic recessive	Knstrn (MGI:1289298)
chr15	40405795	40435947	15q14-q15	15q15.1	607036	IVD	Isovaleryl Coenzyme A dehydrogenase	IVD	3712	ENSG00000128928		Isovaleric acidemia, 243500 (3), Autosomal recessive	Ivd (MGI:1929242)
chr15	40437452	40468236	15q15.1	15q15.1	613880	BAHD1, KIAA0945	BROMO-adjacent homology domain-containing protein 1	BAHD1	22893	ENSG00000140320			Bahd1 (MGI:2139371)
chr15	40470984	40473158	15q14	15q15.1	608429	CHST14, D4ST1, ATCS, EDSMC1	Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	CHST14	113189	ENSG00000169105		Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3), Autosomal recessive	Chst14 (MGI:1919386)
chr15	40520993	40565042	15q15.1	15q15.1	618941	CCDC32, CFNDS, C15orf57	Coiled-coil domain-containing protein 32	CCDC32	90416	ENSG00000128891		Cardiofacioneurodevelopmental syndrome, 619123 (3), Autosomal recessive	Ccdc32 (MGI:2685477)
chr15	40594249	40664342	15q15.1	15q15.1	609173	KNL1, CASC5, AF15Q14, KIAA1570, D40, MCPH4	Kinetochore scaffold 1	KNL1	57082	ENSG00000137812		Microcephaly 4, primary, autosomal recessive, 604321 (3), Autosomal recessive	Knl1 (MGI:1923714)
chr15	40694733	40732340	15q15.1	15q15.1	179617	RAD51, RECA, MRMV2, FANCR	RAD51 recombinase	RAD51	5888	ENSG00000051180		Mirror movements 2, 614508 (3), Autosomal dominant; {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; Fanconi anemia, complementation group R, 617244 (3), Autosomal dominant	Rad51 (MGI:97890)
chr15	40735887	40755254	15q15.1	15q15.1	611873	RMDN3, FAM82A2, FAM82C, RMD3, PTPIP51	Regulator of microtubule dynamics 3	RMDN3	55177	ENSG00000137824			Rmdn3 (MGI:1915059)
chr15	40764068	40767708	15q15.1	15q15.1	602437	GCHFR, GFRP	GTP cyclohydrolase I feedback regulatory protein	GCHFR	2644	ENSG00000137880			Gchfr (MGI:2443977)
chr15	40765161	40807473	15q15.1	15q15.1	616844	DNAJC17	DNAJ/HSP40 homolog, subfamily C, member 17	DNAJC17	55192	ENSG00000104129			Dnajc17 (MGI:1916658)
chr15	40807089	40815084	15q15.1	15q15.1	619635	ZFYVE19, ANCHR, PFIC9	Zinc finger FYVE domain-containing protein 19	ZFYVE19	84936	ENSG00000166140		Cholestasis, progressive familial intrahepatic, 9, 619849 (3), Autosomal recessive	Zfyve19 (MGI:1919258)
chr15	40815451	40828708	15q15.1	15q15.1	613256	PPP1R14D, GBPI1	Protein phosphatase 1, regulatory subunit 14D	PPP1R14D	54866	ENSG00000166143			Ppp1r14d (MGI:1919362)
chr15	40844048	40858207	15q15.1	15q15.1	605123	SPINT1, HAI	Serine peptidase inhibitor, Kunitz-type, 1	SPINT1	6692	ENSG00000166145			Spint1 (MGI:1338033)
chr15	40872214	40874234	15q15.1	15q15.1	620101	RHOV, CHP	Ras homolog family, member V	RHOV	171177	ENSG00000104140			Rhov (MGI:2444227)
chr15	40894450	40903975	15q15.1	15q15.1	608551	VPS18	VPS18 core subunit of CORVET and HOPS complexes	VPS18	57617	ENSG00000104142			Vps18 (MGI:2443626)
chr15	40929340	40939073	15q21.1	15q15.1	605185	DLL4, AOS6	Delta-like canonical Notch ligand 4	DLL4	54567	ENSG00000128917		Adams-Oliver syndrome 6, 616589 (3), Autosomal dominant	Dll4 (MGI:1859388)
chr15	40953471	40956512	15q15.1	15q15.1	614587	CHAC1	ChaC, E. coli, homolog of, 1	CHAC1	79094	ENSG00000128965			Chac1 (MGI:1916315)
chr15	40978880	41116280	15q15.1	15q15.1	610169	INO80, INOC1	INO80 complex, ATPase subunit	INO80	54617	ENSG00000128908			Ino80 (MGI:1915392)
chr15	41231268	41281887	15q13.3	15q15.1	606988	CHP1, SPAX9	Calcineurin like EF-hand protein 1	CHP1	11261	ENSG00000187446	mutation identified in 1 SPAX9 family	?Spastic ataxia 9, autosomal recessive, 618438 (3), Autosomal recessive	Chp1 (MGI:1927185)
chr15	41309273	41332591	15q15.1	15q15.1	606020	OIP5, MIS18B	OPA-interacting protein 5	OIP5	11339	ENSG00000104147			Oip5 (MGI:1917895)
chr15	41332881	41381046	15q15.1	15q15.1	612818	NUSAP1, ANKT, NUSAP	Nucleolar and spindle-associated protein 1	NUSAP1	51203	ENSG00000137804			Nusap1 (MGI:2675669)
chr15	41387353	41403026	15q13.3	15q15.1	606934	NDUFAF1, CIA30, CGI65, MC1DN11	NADH-ubiquinone oxidoreductase complex assembly factor 1	NDUFAF1	51103	ENSG00000137806		Mitochondrial complex I deficiency, nuclear type 11, 618234 (3), Autosomal recessive	Ndufaf1 (MGI:1916952)
chr15	41417095	41483563	15q15.1	15q15.1	611633	RTF1, KIAA0252	RTF1, S. cerevisiae, homolog of	RTF1	23168	ENSG00000137815			Rtf1 (MGI:1309480)
chr15	41493874	41503551	15q14-q21	15q15.1	147521	ITPKA	Inositol 1,4,5-trisphosphate 3-kinase A	ITPKA	3706	ENSG00000137825			Itpka (MGI:1333822)
chr15	41503637	41513827	15q15.1-q21.1	15q15.1	151520	LTK, TYK1	Leukocyte tyrosine kinase	LTK	4058	ENSG00000062524			Ltk (MGI:96840)
chr15	41517176	41544257	15q15.1	15q15.1	611475	RPAP1, KIAA1403	RNA polymerase II-associated protein 1	RPAP1	26015	ENSG00000103932			Rpap1 (MGI:1916175)
chr15	41559212	41583589	15q15.1	15q15.1	600341	TYRO3	TYRO3 protein tyrosine kinase	TYRO3	7301	ENSG00000092445			Tyro3 (MGI:104294)
chr15	41621224	41769940	15q15	15q15.1	616061	MGA, KIAA0518, POF26	MAX dimerization protein MGA	MGA	23269	ENSG00000174197		Premature ovarian failure 26, 621065 (3), Autosomal dominant	Mga (MGI:1352483)
chr15	41774484	41827855	15q13	15q15.1	616786	MAPKBP1, JNKBP1, NPHP20	Mitogen-activated protein kinase-binding protein 1	MAPKBP1	23005	ENSG00000137802		Nephronophthisis 20, 617271 (3), Autosomal recessive	Mapkbp1 (MGI:1347004)
chr15	41838847	41848143	Chr.15	15q15.1	606088	PLA2G4B	Phospholipase A2, group IVB	PLA2G4B	100137049	ENSG00000243708			Pla2g4b (MGI:2384819)
chr15	41848146	41894053	15q21	15q15.1	605916	SPTBN5, BSPECV	Spectrin, beta, non-erythrocytic 5	SPTBN5	51332	ENSG00000137877			Sptbn5 (MGI:2685200)
chr15	41895933	41972557	15q11.1	15q15.1	605892	EHD4	EH domain-containing 4	EHD4	30844	ENSG00000103966			Ehd4 (MGI:1919619)
chr15	41981582	42050703	15q15.1	15q15.1	620649	PLA2G4E	Phospholipase A2, group IVe	PLA2G4E	123745	ENSG00000188089			Pla2g4e (MGI:1919144)
chr15	42067009	42094562	15q15	15q15.1	612864	PLA2G4D	Phospholipase A2, Group IVD	PLA2G4D	283748	ENSG00000159337			Pla2g4d (MGI:1925640)
chr15	42158701	42208304	15q15.1	15q15.1	612188	VPS39, VAM6, TLP, KIAA0770	VPS39 subunit of HOPS complex	VPS39	23339	ENSG00000166887			Vps39 (MGI:2443189)
chr15	42273201	42353666	15q15.1-q15.2	15q15.1	104180	GANC	Neutral alpha-glucosidase C	GANC	2595	ENSG00000214013			Ganc (MGI:1923301)
chr15	42359501	42412317	15q15.1-q21.1	15q15.1	114240	CAPN3, CANP3, LGMDR1, LGMDD4	Calpain, large polypeptide L3	CAPN3	825	ENSG00000092529		Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3), Autosomal dominant	Capn3 (MGI:107437)
chr15	42412823	42491141	15q14	15q15.1	603988	ZNF106, SH3BP3, ZNF474	Zinc finger protein 106	ZNF106	64397	ENSG00000103994			Zfp106 (MGI:1270153)
chr15	42491129	42533058	15q21-q22	15q15.1-q15.2	602534	SNAP23	Synaptosomal-associated protein, 23kD	SNAP23	8773	ENSG00000092531			Snap23 (MGI:109356)
chr15	42548838	42569994	15q15.2	15q15.2	613429	HAUS2, CEP27	HAUS augmin-like complex, subunit 2	HAUS2	55142	ENSG00000137814			Haus2 (MGI:1913546)
chr15	42575606	42720998	15q15	15q15.2	614642	STARD9, KIAA1300	START domain-containing protein 9	STARD9	57519	ENSG00000159433			Stard9 (MGI:3045258)
chr15	42723544	42737128	15q15	15q15.2	607465	CDAN1, CDA1, CDAN1A	Codanin 1	CDAN1	146059	ENSG00000140326		Dyserythropoietic anemia, congenital, type Ia, 224120 (3), Autosomal recessive	Cdan1 (MGI:1916218)
chr15	42738730	42921000	15q15.2	15q15.2	611695	TTBK2, SCA11	Tau tubulin kinase 2	TTBK2	146057	ENSG00000128881		Spinocerebellar ataxia 11, 604432 (3), Autosomal dominant	Ttbk2 (MGI:2155779)
chr15	42942897	43106038	15q15-q21.1	15q15.2	605981	UBR1, JBS	Ubiquitin-protein ligase E3-alpha	UBR1	197131	ENSG00000159459		Johanson-Blizzard syndrome, 243800 (3), Autosomal recessive	Ubr1 (MGI:1277977)
chr15	43185403	43197177	Chr.15	15q15.2	607089	CCNDBP1, GCIP	Cyclin D-type-binding protein 1	CCNDBP1	23582	ENSG00000166946			Ccndbp1 (MGI:109595)
chr15	43197227	43225737	15q15	15q15.2	177070	EPB42, SPH5	Erythrocyte surface protein band 4.2	EPB42	2038	ENSG00000166947		Spherocytosis, type 5, 612690 (3)	Epb42 (MGI:95402)
chr15	43232590	43266928	15q15.2	15q15.2	603805	TGM5, TGX, PSS2	Transglutaminase 5	TGM5	9333	ENSG00000104055		Peeling skin syndrome 2, 609796 (3), Autosomal recessive	Tgm5 (MGI:1921426)
chr15	43276271	43302255	15q15.2	15q15.2-q15.3	606776	TGM7, TGMZ	Transglutaminase 7	TGM7	116179	ENSG00000159495			Tgm7 (MGI:2151164)
chr15	43300001	44500000	15q15.3		611102	DEL15q15.3, C15DELq15.3	Chromosome 15q15.3 deletion syndrome					Deafness and male infertility, 611102 (4), Autosomal recessive	
chr15	43323649	43330573	15q15.3	15q15.3	611246	LCMT2, TYW4, KIAA0547	Leucine carboxyl methyltransferase 2	LCMT2	9836	ENSG00000168806			Lcmt2 (MGI:1353659)
chr15	43330351	43354569	15q15.3	15q15.3	619346	ADAL	Adenosine deaminase-like protein	MAPDA	161823	ENSG00000168803			Adal (MGI:1923144)
chr15	43358175	43371043	15q15.3	15q15.3	620932	ZSCAN29, ZFP690	Zinc finger- and SCAN domain-containing protein 29	ZSCAN29	146050	ENSG00000140265			Zscan29 (MGI:2139317)
chr15	43371101	43409771	15q15	15q15.3	609610	TUBGCP4, GCP4, MCCRP3	Tubulin-gamma complex-associated protein 4	TUBGCP4	27229	ENSG00000137822		Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3), Autosomal recessive	Tubgcp4 (MGI:1196293)
chr15	43403061	43510640	15q15-q21	15q15.3	605230	TP53BP1, 53BP1	Tumor protein p53-binding protein-1	TP53BP1	7158	ENSG00000067369			Trp53bp1 (MGI:1351320)
chr15	43510954	43531611	15q13-qter	15q15.3	600178	MAP1A, MAP1L	Microtubule-associated protein 1A	MAP1A	4130	ENSG00000166963			Map1a (MGI:1306776)
chr15	43533475	43590253	15q15.3	15q15.3	610979	PPIP5K1, HISPPD2A, IPS1, KIAA0377	Diphosphoinositol pentakisphosphate kinase 1	PPIP5K1	9677	ENSG00000168781			Ppip5k1 (MGI:2443281)
chr15	43592857	43599406	15q15	15q15.3	123290	CKMT1B, CKMT1	Creatine kinase, mitochondrial 1B	CKMT1B	1159	ENSG00000237289	centromeric to CKMT1A		Ckmt1 (MGI:99441)
chr15	43599563	43618800	15q15	15q15.3	606440	STRC, DFNB16	Stereocilin	STRC	161497	ENSG00000242866		Deafness, autosomal recessive 16, 603720 (3), Autosomal recessive	Strc (MGI:2153816)
chr15	43628503	43648884	15q15.1-q15.3	15q15.3	607249	CATSPER2	Cation channel, sperm-associated, 2	CATSPER2	117155	ENSG00000166762	in region with tandem duplication containing a CATSPER2 pseudogene		Catsper2 (MGI:2387404)
chr15	43692786	43699222	15q15	15q15.3	613415	CKMT1A	Creatine kinase, mitochondrial 1A	CKMT1A	548596	ENSG00000223572	telomeric to CKMT1B		Ckmt1 (MGI:99441)
chr15	43746438	43773278	15q15	15q15.3	602046	GRP58	Glucose regulated protein, 58kD	PDIA3	2923	ENSG00000167004			Pdia3 (MGI:95834)
chr15	43772620	43776966	15q15.3	15q15.3	609885	ELL3	Elongation factor, RNA polymerase II, 3	ELL3	80237	ENSG00000128886			Ell3 (MGI:2673679)
chr15	43777086	43796089	15q14.3	15q15.3	605054	SERF2, H4F5REL	Small EDRK-rich factor 2	SERF2	10169	ENSG00000140264			Serf2 (MGI:1337041)
chr15	43794162	43800220	15q15.3	15q15.3	614550	SERINC4	Serine incorporator 4	SERINC4	619189	ENSG00000184716			Serinc4 (MGI:2441842)
chr15	43800421	43804427	15q15.3	15q15.3	612784	HYPK	Huntingtin-interacting protein K	HYPK	25764	ENSG00000242028			Hypk (MGI:1914943)
chr15	43804492	43824690	15q15-q12	15q15.3	600215	MFAP1	Microfibrillar-associated protein-1	MFAP1	4236	ENSG00000140259			Mfap1a,Mfap1b (MGI:1914782,MGI:3694697)
chr15	43827002	43868412	15q15.3	15q15.3	620302	WDR76, CMR1	WD repeat-containing protein 76	WDR76	79968	ENSG00000092470			Wdr76 (MGI:1926186)
chr15	43870764	44199473	15q15.3	15q15.3	616309	FRMD5, NEDEMA	FERM domain-containing protein 5	FRMD5	84978	ENSG00000171877		Neurodevelopmental disorder with eye movement abnormalities and ataxia, 620094 (3), Autosomal dominant	Frmd5 (MGI:2442557)
chr15	44427629	44529038	15q15-q21.1	15q15.3-q21.1	618739	CTDSPL2, SCP4	CTD small phosphatase-like protein 2	CTDSPL2	51496	ENSG00000137770			Ctdspl2 (MGI:1196405)
chr15	44500001	67200000	15q21-q22		605728	CTRCT25, CCSSO	Cataract 25		80770			Cataract 25, 605728 (2)	
chr15	44537147	44562803	15q15.3	15q21.1	603910	EIF3J, EIF3S1	Eukaryotic translation initiation factor 3, subunit J	EIF3J	8669	ENSG00000104131			Eif3j1,Eif3j2 (MGI:1925905,MGI:3704486)
chr15	44562696	44663662	15q21.1	15q21.1	610844	SPG11, KIAA1840, FLJ21439, ALS5, CMT2X	SPG11 vesicle trafficking associated, spatacsin	SPG11	80208	ENSG00000104133		Amyotrophic lateral sclerosis 5, juvenile, 602099 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3), Autosomal recessive; Spastic paraplegia 11, autosomal recessive, 604360 (3), Autosomal recessive	Spg11 (MGI:2444989)
chr15	44665732	44711390	15q21.1	15q21.1	614661	PATL2, PAT1A, OZEMA4	PAT1 homolog 2	PATL2	197135	ENSG00000229474		Oocyte/zygote/embryo maturation arrest 4, 617743 (3), Autosomal recessive	Patl2 (MGI:1914828)
chr15	44711517	44718145	15q21-q22	15q21.1	109700	B2M, IMD43, AMYLD6, MHC1D4	Beta-2-microglobulin	B2M	567	ENSG00000166710		Amyloidosis, hereditary systemic 6, 620659 (3); Immunodeficiency 43, 241600 (3), Autosomal recessive	B2m (MGI:88127)
chr15	44736528	44767827	15q21.1	15q21.1	616017	TRIM69, TRIF, RNF36	Tripartite motif-containing protein 69	TRIM69	140691	ENSG00000185880			Trim69 (MGI:1918178)
chr15	44956687	44979229	15q21.1	15q21.1	617131	TERB2, C15orf43, SPGF59	Telomere repeat-binding bouquet formation protein 2	TERB2	145645	ENSG00000167014	mutation identified in 1 SPGF59 family	?Spermatogenic failure 59, 619645 (3), Autosomal recessive	Terb2 (MGI:1921651)
chr15	45023195	45077185	15q15.3	15q21.1	182500	SORD, SORD1, HMNR8	Sorbitol dehydrogenase	SORD	6652	ENSG00000140263		Neuronopathy, distal hereditary motor, autosomal recessive 8, 618912 (3), Autosomal recessive	Sord (MGI:98266)
chr15	45092650	45114172	15q15.3	15q21.1	606759	DUOX2, THOX2, TDH6	Dual oxidase 2 (thyroid oxidase 2)	DUOX2	50506	ENSG00000140279		Thyroid dyshormonogenesis 6, 607200 (3), Autosomal recessive	Duox2 (MGI:3036280)
chr15	45114326	45118421	15q15	15q21.1	612772	DUOXA2, TDH5	Dual oxidase maturation factor 2	DUOXA2	405753	ENSG00000140274	head-to-head with DUOX2	Thyroid dyshormonogenesis 5, 274900 (3), Autosomal recessive	Duoxa2 (MGI:1914061)
chr15	45117366	45129879	15q15	15q21.1	612771	DUOXA1	Dual oxidase maturation factor 1	DUOXA1	90527	ENSG00000140254	tail-to-tail with DUOXA2		Duoxa1 (MGI:2384861)
chr15	45129994	45165574	15q15.3	15q21.1	606758	DUOX1, THOX1	Dual oxidase 1 (thyroid oxidase 1)	DUOX1	53905	ENSG00000137857			Duox1 (MGI:2139422)
chr15	45167214	45201116	15q21.1	15q21.1	617313	SHF	SH2 domain-containing adaptor protein F	SHF	90525	ENSG00000138606			Shf (MGI:3613669)
chr15	45252234	45277846	15q15	15q21.1	606208	SLC28A2, CNT2, SPNT1	Solute carrier family 28 (sodium-coupled nucleoside transporter), member 2	SLC28A2	9153	ENSG00000137860			Slc28a2,Slc28a2b (MGI:1913105,MGI:3702173)
chr15	45361124	45402227	15q21.1	15q21.1	602360	GATM, AGAT, CCDS3, FRTS1	L-arginine:glycine amidinotransferase	GATM	2628	ENSG00000171766		Cerebral creatine deficiency syndrome 3, 612718 (3), Autosomal recessive; Fanconi renotubular syndrome 1, 134600 (3), Autosomal dominant	Gatm (MGI:1914342)
chr15	45402336	45421415	15q21.1	15q21.1	619578	AFG2B, SPATA5L1, DFNB119, NEDHLS	AFG2 AAA ATPase homolog B	AFG2B	79029	ENSG00000171763		Deafness, autosomal recessive 119, 619615 (3), Autosomal recessive; Neurodevelopmental disorder with hearing loss and spasticity, 619616 (3), Autosomal recessive	Afg2b (MGI:3036261)
chr15	45430610	45433340	15q21.1	15q21.1	608409	C15orf48, NMES1	Chromosome 15 open reading frame 48	C15orf48	84419	ENSG00000166920			AA467197 (MGI:3034182)
chr15	45479606	45522755	15q21.1	15q21.1	602095	SLC30A4, ZNT4	Solute carrier family 30 (zinc transporter), member 4	SLC30A4	7782	ENSG00000104154			Slc30a4 (MGI:1345282)
chr15	45511136	45556730	15q21.1	15q21.1	611314	HMGN2P46, C15orf21	High mobility group nucleosomal binding domain 2 pseudogene 46	HMGN2P46	283651				
chr15	45587123	45609716	15q15	15q21.1	604310	BLOC1S6, BLOS6, PLDN, PA, HPS9	Biogenesis of lysosome-related organelles complex 1, subunit 6	BLOC1S6	26258	ENSG00000104164		Hermansky-Pudlak syndrome 9, 614171 (3), Autosomal recessive	Bloc1s6 (MGI:1927580)
chr15	45631148	45691281	15q21.1	15q21.1	617658	SQOR, SQRDL	Sulfide quinone oxidoreductase	SQOR	58472	ENSG00000137767		Sulfide:quinone oxidoreductase deficiency, 619221 (3), Autosomal recessive	Sqor (MGI:1929899)
chr15	47184089	47774228	15q21.1	15q21.1	609295	SEMA6D, KIAA1479	Semaphorin 6D	SEMA6D	80031	ENSG00000137872			Sema6d (MGI:2387661)
chr15	48120990	48142672	15q21.1	15q21.1	609802	SLC24A5, NCKX5, SHEP4, OCA6	Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	SLC24A5	283652	ENSG00000188467		[Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3), Autosomal recessive; Albinism, oculocutaneous, type VI, 113750 (3), Autosomal recessive	Slc24a5 (MGI:2677271)
chr15	48134632	48178295	15q21.1	15q21.1	619395	MYEF2, KIAA1341	Myelin expression factor 2	MYEF2	50804	ENSG00000104177			Myef2,Myef2l (MGI:104592,MGI:3641855)
chr15	48206302	48304078	15q15-q21.1	15q21.1	600839	SLC12A1, NKCC2	Solute carrier family 12 (sodium/potassium/chloride transporters), member 1	SLC12A1	6557	ENSG00000074803		Bartter syndrome, type 1, 601678 (3), Autosomal recessive	Slc12a1 (MGI:103150)
chr15	48331095	48343373	15q15-q21.1	15q21.1	601266	DUT, BMFDMS	dUTP pyrophosphatase	DUT	1854	ENSG00000128951		Bone marrow failure and diabetes mellitus syndrome, 620044 (3), Autosomal recessive	Dut (MGI:1346051)
chr15	48408313	48645709	15q21.1	15q21.1	134797	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	Fibrillin-1	FBN1	2200	ENSG00000166147		Geleophysic dysplasia 2, 614185 (3), Autosomal dominant; Weill-Marchesani syndrome 2, dominant, 608328 (3), Autosomal dominant; Ectopia lentis, familial, 129600 (3), Autosomal dominant; MASS syndrome, 604308 (3), Autosomal dominant; Marfan lipodystrophy syndrome, 616914 (3), Autosomal dominant; Acromicric dysplasia, 102370 (3), Autosomal dominant; Marfan syndrome, 154700 (3), Autosomal dominant; Stiff skin syndrome, 184900 (3), Autosomal dominant	Fbn1 (MGI:95489)
chr15	48729083	48811069	15q21.1	15q21.1	613529	CEP152, KIAA0912, MCPH9, SCKL5	Centrosomal protein, 152kD	CEP152	22995	ENSG00000103995		Microcephaly 9, primary, autosomal recessive, 614852 (3), Autosomal recessive; Seckel syndrome 5, 613823 (3), Autosomal recessive	Cep152 (MGI:2139083)
chr15	48823741	48963919	15q21.1	15q21.1	617372	SHC4, RALP, SHCD	SHC transforming protein 4	SHC4	399694	ENSG00000185634			Shc4 (MGI:2655364)
chr15	48878134	48880173	15q21.1-q21.2	15q21.1	605894	EID1, CRI1, C15orf3	EP300-interacting inhibitor of differentiation 1	EID1	23741	ENSG00000255302			Eid1 (MGI:1889651)
chr15	48988638	49046446	15q21.1	15q21.1	615756	SECISBP2L, SBP2L, KIAA0256	Selenocysteine insertion sequence-binding protein 2-like	SECISBP2L	9728	ENSG00000138593			Secisbp2l (MGI:1917604)
chr15	49122727	49155599	15q21.2	15q21.1	604508	TRIP15, SGN2, COPS2	Thyroid hormone receptor interactor-15	COPS2	9318	ENSG00000166200			Cops2 (MGI:1330276)
chr15	49200001	58800000	15q21.2-q21.3		139300	AEXS	Aromatase excess syndrome					Aromatase excess syndrome, 139300 (4), Autosomal dominant	
chr15	49155774	49367740	Chr.15	15q21.1-q21.2	137028	GALK2, GK2	Galactokinase-2	GALK2	2585	ENSG00000156958			Galk2 (MGI:1917226)
chr15	49423242	49488775	15q15-q21.1	15q21.2	148180	FGF7	Fibroblast growth factor-7 (keratinocyte growth factor)	FGF7	2252	ENSG00000140285			Fgf7 (MGI:95521)
chr15	49621048	49656232	15q21.2	15q21.2	621116	DTWD1	DTW domain-containing protein 1	DTWD1	56986	ENSG00000104047			
chr15	49858238	50181854	15q21.2	15q21.2	609123	ATP8B4, KIAA1939	ATPase, class I, type 8B, member 4	ATP8B4	79895	ENSG00000104043			Atp8b4 (MGI:1859664)
chr15	50182196	50236385	15q21.2	15q21.2	603247	SLC27A2, FACVL1, VLACS	Solute carrier family 27 (fatty acid transporter), member 2 (fatty acid CoA ligase, very long-chain 1)	SLC27A2	11001	ENSG00000140284			Slc27a2 (MGI:1347099)
chr15	50241947	50265726	15q21-q22	15q21.2	142704	HDC	Histidine decarboxylase	HDC	3067	ENSG00000140287		{Gilles de la Tourette syndrome, susceptibility to}, 137580 (3), Autosomal dominant	Hdc (MGI:96062)
chr15	50275389	50355198	15q21.2	15q21.2	600610	GABPB, BABPB2, GABPB1, E4TF1B, NRF2B1	GA-binding protein transcription factor, beta subunit	GABPB1	2553	ENSG00000104064			Gabpb1 (MGI:95611)
chr15	50424405	50514421	15q21.2	15q21.2	603158	USP8, HUMORF8, PITA4	Ubiquitin-specific protease 8	USP8	9101	ENSG00000138592		Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)	Usp8 (MGI:1934029)
chr15	50493025	50546666	15q21.2	15q21.2	620563	USP50	Ubiquitin-specific peptidase 50	USP50	373509	ENSG00000170236			Usp50 (MGI:1922333)
chr15	50557158	50686797	15q21	15q21.2	605692	TRPM7, LTRPC7, CHAK, ALSPDC	Transient receptor potential cation channel, subfamily M, member 7	TRPM7	54822	ENSG00000092439		{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3), Autosomal dominant	Trpm7 (MGI:1929996)
chr15	50702266	50765706	15q15.3	15q21.2	608238	SPPL2A, IMP3, IMD86	Signal peptide peptidase-like 2A	SPPL2A	84888	ENSG00000138600		Immunodeficiency 86, mycobacteriosis, 619549 (3), Autosomal recessive	Sppl2a (MGI:1913802)
chr15	50907492	51005895	15q21.2	15q21.2	607244	AP4E1, SPG51, CPSQ4, STUT1	Adaptor-related protein complex 4, epsilon-1 subunit	AP4E1	23431	ENSG00000081014		Stuttering, familial persistent, 1, 184450 (3), Autosomal dominant; Spastic paraplegia 51, autosomal recessive, 613744 (3), Autosomal recessive	Ap4e1 (MGI:1336993)
chr15	51056601	51105276	15q21.2	15q21.2	616438	TNFAIP8L3, TIPE3	Tumor necrosis factor-alpha-induced protein 8-like 3	TNFAIP8L3	388121	ENSG00000183578			Tnfaip8l3 (MGI:2685363)
chr15	51208057	51338596	15q21.1	15q21.2	107910	CYP19A1, CYP19, ARO	Cytochrome P450, family 19, subfamily A, polypeptide 1 (aromatization of androgens)	CYP19A1	1588	ENSG00000137869	close to CYP11 in mouse	Aromatase deficiency, 613546 (3)	Cyp19a1 (MGI:88587)
chr15	51341655	51413365	15q21.2	15q21.2	608603	GLDN, CRGL2, LCCS11	Gliomedin	GLDN	342035	ENSG00000186417		Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive	Gldn (MGI:2388361)
chr15	51447791	51622771	15q21.2	15q21.2	612186	DMXL2, RC3, KIAA0856, PEPNS, DFNA71, DEE81	DMX-like 2	DMXL2	23312	ENSG00000104093	mutation identified in 1 PEPNS family and 1 DFNA71 family	Developmental and epileptic encephalopathy 81, 618663 (3), Autosomal recessive; ?Deafness, autosomal dominant 71, 617605 (3), Autosomal dominant; ?Polyendocrine-polyneuropathy syndrome, 616113 (3), Autosomal recessive	Dmxl2 (MGI:2444630)
chr15	51681503	51721026	15q21.3	15q21.2	611796	SCG3	Secretogranin III	SCG3	29106	ENSG00000104112			Scg3 (MGI:103032)
chr15	51751597	51816363	15q21.1-q21.2	15q21.2	602928	TMOD2	Tropomodulin 2, neuronal	TMOD2	29767	ENSG00000128872			Tmod2 (MGI:1355335)
chr15	51829653	51915725	15q21.1-q21.2	15q21.2	605112	TMOD3	Tropomodulin 3	TMOD3	29766	ENSG00000138594			Tmod3 (MGI:1355315)
chr15	51938025	51971778	15q15.3	15q21.2	610507	LEO1, RDL	LEO1 RNA polymerase II associated factor, S. cerevisiae, homolog of	LEO1	123169	ENSG00000166477			Leo1 (MGI:2685031)
chr15	51971825	52067375	15q21	15q21.2	602904	MAPK6, PRKM6, ERK3	Mitogen-activated protein kinase 6	MAPK6	5597	ENSG00000069956			Mapk6 (MGI:1354946)
chr15	52109263	52112775	15q21	15q21.2	606910	BCL2L10	BCL2-like 10	BCL2L10	10017	ENSG00000137875			Bcl2l10 (MGI:1330841)
chr15	52115100	52191392	15q21.2	15q21.2	604447	GNB5, GB5, LDMLS1, LDMLS2	Guanine nucleotide-binding protein, beta-5	GNB5	10681	ENSG00000069966		Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia, 617182 (3), Autosomal recessive; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia, 617173 (3), Autosomal recessive	Gnb5 (MGI:101848)
chr15	52192322	52295804	15q21	15q21.2	610022	MYO5C	Myosin Vc	MYO5C	55930	ENSG00000128833			Myo5c (MGI:2442485)
chr15	52307283	52529050	15q21	15q21.2	160777	MYO5A, MYH12, GS1	Myosin Va	MYO5A	4644	ENSG00000197535		Griscelli syndrome, type 1, 214450 (3), Autosomal recessive	Myo5a (MGI:105976)
chr15	52547045	52569446	15q21.2	15q21.2	605487	ARPP19, ARPP16	cAMP-regulated phosphoprotein 19	ARPP19	10776	ENSG00000128989			Arpp19 (MGI:1891691)
chr15	52581321	52709815	15q21.2	15q21.2-q21.3	620168	ATOSA, KIAA1370	ATOS homolog A	ATOSA	56204	ENSG00000047346			Atosa (MGI:2387648)
chr15	52755053	52790336	15q21.1-q21.2	15q21.3	604164	ONECUT1, HNF6A, HNF6	One cut domain, family member 1 (hepatocyte nuclear factor 6-alpha)	ONECUT1	3175	ENSG00000169856			Onecut1 (MGI:1196423)
chr15	53513741	53762878	15q21.3	15q21.3	613214	WDR72, AI2A3	WD repeat-containing protein 72	WDR72	256764	ENSG00000166415		Amelogenesis imperfecta, type IIA3, 613211 (3), Autosomal recessive	Wdr72 (MGI:3583957)
chr15	53837602	54633440	15q21.3	15q21.3	614568	UNC13C	unc-13 homolog C	UNC13C	440279	ENSG00000137766			Unc13c (MGI:2149021)
chr15	55180806	55196941	15q21.3	15q21.3	613262	RSL24D1, RLP24	Ribosomal protein L24 domain-containing protein 1	RSL24D1	51187	ENSG00000137876			Rsl24d1 (MGI:2681840)
chr15	55202966	55289813	15q21	15q21.3	603868	RAB27A, RAM, GS2	Ras-associated protein RAB27A	RAB27A	5873	ENSG00000069974		Griscelli syndrome, type 2, 607624 (3), Autosomal recessive	Rab27a (MGI:1861441)
chr15	55317184	55319123	15q21.3	15q21.3	618809	PIGBOS1	PIGB opposite strand 1	PIGBOS1	101928527	ENSG00000225973			Pigbos1 (MGI:1913614)
chr15	55319222	55355648	15q21-q22	15q21.3	604122	PIGB, DEE80	Phosphatidylinositol glycan, class B	PIGB	9488	ENSG00000069943		Developmental and epileptic encephalopathy 80, 618580 (3), Autosomal recessive	Pigb (MGI:1891825)
chr15	55355239	55408359	15q21.3	15q21.3	611326	CCPG1, KIAA1254, CPR8	Cell cycle progression 1	CCPG1	9236	ENSG00000260916			Ccpg1 (MGI:1196419)
chr15	55408495	55418798	15q21.3	15q21.3	619669	PIERCE2, C14orf65	Piercer of microtubule wall 2	PIERCE2	145788	ENSG00000261652			Pierce2 (MGI:3648770)
chr15	55417755	55508234	15q21	15q21.3	608706	DNAAF4, DYX1C1, DYXC1, DYX1, CILD25	Dynein, axonemal, assembly factor 4	DNAAF4	161582	ENSG00000256061	not confirmed by some studies	{Dyslexia, susceptibility to, 1}, 127700 (3), Autosomal dominant; Ciliary dyskinesia, primary, 25, 615482 (3), Autosomal recessive	Dnaaf4 (MGI:1914935)
chr15	55538884	55588971	15q21.3	15q21.3	606902	PYGO1	Pygopus, Drosophila, homolog of, 1	PYGO1	26108	ENSG00000171016			Pygo1 (MGI:1919385)
chr15	55611544	55743152	15q21.3	15q21.3	613261	PRTG	Protogenin	PRTG	283659	ENSG00000166450			Prtg (MGI:2444710)
chr15	55826917	55993612	15q	15q21.3	602278	NEDD4	Neural precursor cell expressed, developmentally downregulated-4	NEDD4	4734	ENSG00000069869			Nedd4 (MGI:97297)
chr15	56087280	56245082	15q21.3	15q21.3	612660	RFX7, RFXDC2, MRD71	Regulatory factor X, 7	RFX7	64864	ENSG00000181827		Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, 620330 (3), Autosomal dominant	Rfx7 (MGI:2442675)
chr15	56243973	56460010	15q21.3	15q21.3	620935	TEX9	Testis-expressed gene 9	TEX9	374618	ENSG00000151575			Tex9 (MGI:1201610)
chr15	56428724	56465137	15q21.3	15q21.3	610766	MNS1, FLJ11222, HTX9	Meiosis-specific nuclear structural protein 1	MNS1	55329	ENSG00000138587		Heterotaxy, visceral, 9, autosomal, with male infertility, 618948 (3), Autosomal recessive	Mns1 (MGI:107933)
chr15	56918090	57291310	15q21	15q21.3	600480	TCF12, HTF4, CRS3, HH26	Transcription factor-12 (HTF4, helix-loop-helix transcription factors-4)	TCF12	6938	ENSG00000140262		Craniosynostosis 3, 615314 (3), Autosomal dominant; Hypogonadotropic hypogonadism 26 with or without anosmia, 619718 (3), Autosomal recessive, Autosomal dominant	Tcf12 (MGI:101877)
chr15	57376505	57550717	15q21.2-q21.3	15q21.3	607856	CGNL1, FLJ14957, KIAA1749	Cingulin-like 1	CGNL1	84952	ENSG00000128849			Cgnl1 (MGI:1915428)
chr15	57591904	57685364	15q21.3-q22.1	15q21.3	614071	MYZAP, GCOM1, GUP, CMD2K	Myocardial zonula adherens protein	MYZAP	100820829	ENSG00000263155		Cardiomyopathy, dilated, 2K, 620894 (3), Autosomal recessive	Myzap (MGI:2142908)
chr15	57706714	57717557	15q22.1	15q21.3	606485	POLR2M, GDOWN, GRINL1A	Polymerase II, RNA, subunit M	POLR2M	81488	ENSG00000255529			Myzap,Polr2m (MGI:107282,MGI:2142908)
chr15	57953429	58065711	15q21.3	15q21.3	603687	ALDH1A2, RALDH2, DIH4	Aldehyde dehydrogenase 1 family, member A2 (retinaldehyde dehydrogenase 2)	ALDH1A2	8854	ENSG00000128918		Diaphragmatic hernia 4, with cardiovascular defects, 620025 (3), Autosomal recessive	Aldh1a2 (MGI:107928)
chr15	58138169	58185911	15q22	15q21.3	602914	AQP9	Aquaporin 9	AQP9	366	ENSG00000103569			Aqp9 (MGI:1891066)
chr15	58431991	58569844	15q21.3	15q21.3	151670	LIPC, HL, LIPH, HDLCQ12	Lipase C, hepatic	LIPC	3990	ENSG00000166035		{Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; Hepatic lipase deficiency, 614025 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 12], 612797 (3)	Lipc (MGI:96216)
chr15	58588809	58749707	15q21.3	15q21.3	602192	ADAM10, MADM, RAK, AD18	ADAM metallopeptidase domain 10	ADAM10	102	ENSG00000137845		{Alzheimer disease 18, susceptibility to}, 615590 (3); Reticulate acropigmentation of Kitamura, 615537 (3), Autosomal dominant	Adam10 (MGI:109548)
chr15	58771302	58861900	15q21.3-q22.1	15q21.3-q22.1	618408	MINDY2, FAM63B	MINDY lysine-48 deubiquitinase 2	MINDY2	54629	ENSG00000128923			Mindy2 (MGI:2443086)
chr15	58800001	78000000	15q22-q24		611274	GLC1N	Glaucoma 1, open angle, N		777645		max lod at D15S125	Glaucoma 1, open angle, N, 611274 (2)	
chr15	58800001	72400000	15q22-q23		612632	USH1H	Usher syndrome, type 1H		100271837		max lod at D15S980	Usher syndrome, type 1H, 612632 (2)	
chr15	58879050	58933679	15q22.1	15q22.1	620992	SLTM, MET	SAFB-like transcription modulator	SLTM	79811	ENSG00000137776			Sltm (MGI:1913910)
chr15	58987663	59097419	15q22.1-q22.2	15q22.1-q22.2	605840	RNF111	RING finger protein 111	RNF111	54778	ENSG00000157450			Rnf111 (MGI:1934919)
chr15	59105146	59125045	15q22.2	15q22.2	602755	CCNB2	Cyclin B2	CCNB2	9133	ENSG00000157456			Ccnb2 (MGI:88311)
chr15	59132434	59372871	15q21-q22	15q22.2	601479	MYO1E, MYO1C, FSGS6	Myosin IE	MYO1E	4643	ENSG00000157483		Glomerulosclerosis, focal segmental, 6, 614131 (3), Autosomal recessive	Myo1e (MGI:106621)
chr15	59611783	59622723	15q21.3	15q22.2	606836	GCNT3	Glucosaminyl (N-acetyl) transferase 3, mucin-type	GCNT3	9245	ENSG00000140297			Gcnt3 (MGI:1919327)
chr15	59638062	59657515	15q22.2	15q22.2	600519	GTF2A2, TF2A2	General transcription factor IIA, gamma subunit	GTF2A2	2958	ENSG00000140307	pseudogenes on chr. 1, 8, 9		Gtf2a2 (MGI:1933289)
chr15	59659146	59689320	15q22.2	15q22.2	603292	BNIP2, NIP2	BCL2/adenovirus E1B 19kD protein-interacting protein 2	BNIP2	663	ENSG00000140299			Bnip2 (MGI:109327)
chr15	60004311	60007444	15q22.2	15q22.2	619961	FOXB1, FKH5	Forkhead box B1	FOXB1	27023	ENSG00000171956			Foxb1 (MGI:1927549)
chr15	60347151	60397986	15q21-q22	15q22.2	151740	ANXA2, ANX2L4, LPC2D, LIP2	Annexin A2 (lipocortin I)	ANXA2	302	ENSG00000182718	pseudogenes ANX2P1 on 4q21-q31; ANX2P2 on 9p13; ANX2P3 on 10q24-q22		Anxa2 (MGI:88246)
chr15	60419609	60479142	15q21.3	15q22.2	610835	NARG2	NMDA receptor-regulated 2	ICE2	79664	ENSG00000128915	pseudogenes on chr.4 and chr.3		Ice2 (MGI:2135947)
chr15	60488284	61229302	15q21-q22	15q22.2	600825	RORA, IDDECA	RAR-related orphan receptor A	RORA	6095	ENSG00000069667		Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3), Autosomal dominant	Rora (MGI:104661)
chr15	61852389	62060447	15q22.1	15q22.2	608879	VPS13C, KIAA1421, PARK23	Vacuolar protein sorting 13 homolog C	VPS13C	54832	ENSG00000129003		Parkinson disease 23, autosomal recessive, early onset, 616840 (3), Autosomal recessive	Vps13c (MGI:2444207)
chr15	62066977	62070917	15q21.3	15q22.2	610343	C2CD4A, NLF1	C2 calcium-dependent domain containing 4A	C2CD4A	145741	ENSG00000198535			C2cd4a (MGI:3645763)
chr15	62163535	62165285	15q21.3	15q22.2	610344	C2CD4B, NLF2	C2 calcium-dependent domain containing 4B	C2CD4B	388125	ENSG00000205502			C2cd4b (MGI:1922947)
chr15	62390550	62844631	15q22.2	15q22.2	607349	TLN2, KIAA0320	Talin 2	TLN2	83660	ENSG00000171914			Tln2 (MGI:1917799)
chr15	62823957	62824041	15q22.2	15q22.2	615845	MIR190A	Micro RNA 190A	MIR190A	406965	ENSG00000211137			Mir190a (MGI:2676854)
chr15	63042747	63071915	15q22.1	15q22.2	191010	TPM1, CMH3, CMD1Y , LVNC9	Tropomyosin 1, alpha	TPM1	7168	ENSG00000140416		Left ventricular noncompaction 9, 611878 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 3, 115196 (3), Autosomal dominant; Cardiomyopathy, dilated, 1Y, 611878 (3), Autosomal dominant	Tpm1 (MGI:98809)
chr15	63121861	63142061	15q22.1	15q22.2	608440	LACTB	Lactamase, beta	LACTB	114294	ENSG00000103642			Lactb (MGI:1933395)
chr15	63148249	63157477	15q22.2	15q22.2	612055	RPS27L	Ribosomal protein S27-like	RPS27L	51065	ENSG00000185088			Rps27l (MGI:1915191)
chr15	63189606	63267776	15q22.2	15q22.2	613532	RAB8B	Ras-associated protein RAB8B	RAB8B	51762	ENSG00000166128			Rab8b (MGI:2442982)
chr15	63277605	63309126	15q22.2	15q22.2	607630	APH1B	Aph-1 homolog B, gamma-secretase subunit	APH1B	83464	ENSG00000138613			Aph1b,Aph1c (MGI:1915568,MGI:3522097)
chr15	63321378	63381846	15q22	15q22.2	603263	CA12	Carbonic anhydrase XII	CA12	771	ENSG00000074410		Hyperchlorhidrosis, isolated, 143860 (3), Autosomal recessive	Car12 (MGI:1923709)
chr15	63504593	63594633	15q22.3	15q22.31	604728	USP3	Ubiquitin-specific protease 3	USP3	9960	ENSG00000140455			Usp3 (MGI:2152450)
chr15	63597387	63608516	15q22.1	15q22.31	609088	FBXL22, FBL22	F-box and leucine-rich repeat protein 22	FBXL22	283807	ENSG00000197361			Fbxl22 (MGI:1921415)
chr15	63608618	63833948	15q22.31	15q22.31	605109	HERC1, MDFPMR	HECT domain and RCC1-like domain 1	HERC1	8925	ENSG00000103657		Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3), Autosomal recessive	Herc1 (MGI:2384589)
chr15	63907036	64046485	15q22.31	15q22.31	616567	DAPK2, DRP1	Death-associated protein kinase 2	DAPK2	23604	ENSG00000035664			Dapk2 (MGI:1341297)
chr15	64072565	64093838	15q22.31	15q22.31	618382	CIAO2A, CIA2A, FAM96A	Cytosolic iron-sulfur assembly component 2A	CIAO2A	84191	ENSG00000166797			Ciao2a (MGI:1915500)
chr15	64095982	64144231	15q22.3	15q22.31	601272	SNX1, SNX1A	Sorting nexin 1	SNX1	6642	ENSG00000028528			Snx1 (MGI:1928395)
chr15	64155817	64163022	15q21-q22	15q22.31	123841	PPIB, CYPB, OI9	Peptidyl-prolyl isomerase B	PPIB	5479	ENSG00000166794		Osteogenesis imperfecta, type IX, 259440 (3), Autosomal recessive	Ppib (MGI:97750)
chr15	64165525	64356173	15q22.1-q22.31	15q22.31	606274	CSNK1G1	Casein kinase I, gamma-1	CSNK1G1	53944	ENSG00000169118			Csnk1g1 (MGI:2660884)
chr15	64364304	64387687	15q22.1	15q22.31	610696	PAF, OEATC1, KIAA0101	PCNA-associated factor, 15kD	PCLAF	9768	ENSG00000166803			Pclaf (MGI:1915276)
chr15	64387836	64455303	15q22.31	15q22.31	604501	TRIP4, ASC1, SMABF1, MDCDC	Thyroid hormone receptor interactor 4	TRIP4	9325	ENSG00000103671	mutation identified in 1 MDCDC family	?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3), Autosomal recessive; Spinal muscular atrophy with congenital bone fractures 1, 616866 (3), Autosomal recessive	Trip4 (MGI:1928469)
chr15	64459578	64686068	15q22.31	15q22.31	617474	ZNF609, KIAA0295	Zinc finger ptoein 609	ZNF609	23060	ENSG00000180357			Zfp609 (MGI:2674092)
chr15	64687574	64703281	15q22.31	15q22.31	604152	OAZ2	Ornithine decarboxylase antizyme 2	OAZ2	4947	ENSG00000180304			Oaz2 (MGI:109492)
chr15	64739891	64775589	15q22.31	15q22.31	619034	RBPMS2	RNA-binding protein, mRNA-processing factor, 2	RBPMS2	348093	ENSG00000166831			Rbpms2 (MGI:1919223)
chr15	64815632	64827062	15q22.31	15q22.31	610953	PIF1, PIF	Pif1, S. cerevisiae, homolog of	PIF1	80119	ENSG00000140451			Pif1 (MGI:2143057)
chr15	64963022	64989914	15q21-q22	15q22.31	608181	ACP33, MAST, SPG21	Acidic cluster protein, 33kD, (maspardin)	SPG21	51324	ENSG00000090487		Mast syndrome, 248900 (3), Autosomal recessive	Spg21 (MGI:106403)
chr15	65001512	65029639	15q22.31	15q22.31	611766	MTFMT, COXPD15, MC1DN27	Mitochondrial methionyl-tRNA formyltransferase	MTFMT	123263	ENSG00000103707		Combined oxidative phosphorylation deficiency 15, 614947 (3), Autosomal recessive; Mitochondrial complex I deficiency, nuclear type 27, 618248 (3), Autosomal recessive	Mtfmt (MGI:1916856)
chr15	65045387	65053397	15q22.31	15q22.31	612085	SLC51B, OSTB, PBAM2	Solute carrier family 51, beta subunit (organic solute transporter, beta)	SLC51B	123264	ENSG00000186198	mutation identified in 1 PBAM2 family	?Bile acid malabsorption, primary, 2, 619481 (3), Autosomal recessive	Slc51b (MGI:3582052)
chr15	65076746	65079948	15q22.31	15q22.31	613727	KBTBD13, NEM6	Kelch repeat and BTB/POZ domains-containing protein 13	KBTBD13	390594	ENSG00000234438		Nemaline myopathy 6, autosomal dominant, 609273 (3), Autosomal dominant	Kbtbd13 (MGI:1921742)
chr15	65117379	65133808	15q22.31	15q22.31	608138	PDCD7	Programmed cell death 7	PDCD7	10081	ENSG00000090470			Pdcd7 (MGI:1859170)
chr15	65148219	65185342	15q22.31	15q22.31	615611	CLPX, EPP2	Caseinolytic mitochondrial matrix peptidase chaperone subunit	CLPX	10845	ENSG00000166855	mutation identified in 1 EPP2 family	?Protoporphyria, erythropoietic, 2, 618015 (3), Autosomal dominant	Clpx (MGI:1346017)
chr15	65194760	65211473	15q22	15q22.31	603489	CILP	Cartilage intermediate layer protein	CILP	8483	ENSG00000138615		{Lumbar disc disease, susceptibility to}, 603932 (3)	Cilp (MGI:2444507)
chr15	65230917	65286883	15q22.31	15q22.31	620391	PARP16, ARTD15	Poly(ADP-ribose) polymerase family, member 16	PARP16	54956	ENSG00000138617			Parp16 (MGI:2446133)
chr15	65296051	65296167	15q22.31	15q22.31	180691	RNU5A-1, RNU5	RNA, U5A small nuclear 1	RNU5A-1	26831	ENSG00000199568			
chr15	65304677	65304793	15q22.31	15q22.31	621090	RNU5B-1, U5B1	RNA, U5B small nuclear 1	RNU5B-1	26832	ENSG00000200156			
chr15	65327127	65378002	15q22.3-q23	15q22.31	604184	PUNC	Putative neuronal cell adhesion molecule	IGDCC3	9543	ENSG00000174498			Igdcc3 (MGI:1202390)
chr15	65381484	65422947	15q22.31	15q22.31	616810	IGDCC4, NOPE, KIAA1628	Immunoglobulin superfamily, DCC subclass, member 4	IGDCC4	57722	ENSG00000103742			Igdcc4 (MGI:1858497)
chr15	65442467	65517689	15q22	15q22.31	606819	DPP8	Dipeptidyl peptidase 8	DPP8	54878	ENSG00000074603			Dpp8 (MGI:1921638)
chr15	65530463	65578349	15q22.31	15q22.31	615940	PTPLAD1, BIND1, HACD3	Protein tyrosine phosphatase-like A domain-containing protein 1	HACD3	51495	ENSG00000074696			Hacd3 (MGI:1889341)
chr15	65578757	65611131	15q22.31	15q22.31	620878	INTS14, VWA9	Integrator complex subunit 14	INTS14	81556	ENSG00000138614			Ints14 (MGI:1917132)
chr15	65611350	65661002	15q22	15q22.31	603617	SLC24A1, NCKX1, CSNB1D	Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	SLC24A1	9187	ENSG00000074621		Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3), Autosomal recessive	Slc24a1 (MGI:2384871)
chr15	65659123	65792293	15q22.31	15q22.31	600382	DENND4A	DENN/MADD domain containing 4A	DENND4A	10260	ENSG00000174485			Dennd4a (MGI:2142979)
chr15	65869491	65891989	15q21.3-q22.31	15q22.31	605570	RAB11A	Ras family, member RAB11A	RAB11A	8766	ENSG00000103769			Rab11a (MGI:1858202)
chr15	65895299	66253750	15q22.31	15q22.31	612454	MEGF11, KIAA1781	Multiple epidermal growth factor-like domains 11	MEGF11	84465	ENSG00000157890			Megf11 (MGI:1920951)
chr15	66293309	66333898	15q22.31	15q22.31	614183	DIS3L, DIS3L1, KIAA1955	DIS3 like exosome 3'-5' exoribonuclease	DIS3L	115752	ENSG00000166938			Dis3l (MGI:2143272)
chr15	66336191	66386717	15q22.3	15q22.31	610716	TIPIN	Timeless-interacting protein	TIPIN	54962	ENSG00000075131			Tipin (MGI:1921571)
chr15	66386912	66491544	15q21	15q22.31	176872	MAP2K1, PRKMK1, MKK1, MEK1, CFC3, MEL	Mitogen-activated protein kinase kinase 1	MAP2K1	5604	ENSG00000169032	pseudogene on 8p21	Cardiofaciocutaneous syndrome 3, 615279 (3), Autosomal dominant; Melorheostosis, isolated, somatic mosaic, 155950 (3)	Map2k1 (MGI:1346866)
chr15	66489748	66497762	15q22.31	15q22.31	605979	SNAPC5, SNAP19	Small nuclear RNA-activating protein complex, polypeptide 5	SNAPC5	10302	ENSG00000174446			Snapc5 (MGI:1914282)
chr15	66498015	66504855	15q	15q22.31	180479	RPL4	Ribosomal protein L4	RPL4	6124	ENSG00000174444			Rpl4 (MGI:1915141)
chr15	66505326	66550130	15q22.3	15q22.31	609984	ZWILCH	ZWILCH kinetochore protein	ZWILCH	55055	ENSG00000174442			Zwilch (MGI:1915264)
chr15	66547532	66565998	15q22.31	15q22.31	617060	LCTL, KLG, KLPH	Lactase-like protein	LCTL	197021	ENSG00000188501			Lctl (MGI:2183549)
chr15	66702236	66782849	15q21-q22	15q22.31	602931	SMAD6, MADH6, AOVD2	SMAD family member 6	SMAD6	4091	ENSG00000137834		Aortic valve disease 2, 614823 (3), Autosomal dominant; {Radioulnar synostosis, nonsyndromic}, 179300 (3), Autosomal dominant; {Craniosynostosis 7, susceptibility to}, 617439 (3), Autosomal dominant	Smad6 (MGI:1336883)
chr15	66900001	67000000	15q22.32		612579	STQTL16	Stature quantitative trait locus 16		100270802		associated with rs8038652	{Stature QTL 16}, 612579 (2)	
chr15	67065602	67195169	15q22.3	15q22.33	603109	SMAD3, MADH3, LDS3	SMAD family member 3	SMAD3	4088	ENSG00000166949		Loeys-Dietz syndrome 3, 613795 (3), Autosomal dominant	Smad3 (MGI:1201674)
chr15	67200001	101991189	15q23-q26.3		607248	GLM4	Glioma susceptibility 4		338030		max lod at D15S130	{Glioma susceptibility 4}, 607248 (2)	
chr15	67200667	67255198	15q22.33-q23	15q23	614888	AAGAB, p34, PPKP1A, PPKP1, KPPP1	Alpha- and gamma-adaptin-binding protein	AAGAB	79719	ENSG00000103591		Keratoderma, palmoplantar, punctate type IA, 148600 (3), Autosomal dominant	Aagab (MGI:1914189)
chr15	67254786	67501804	15q22.31	15q23	612523	IQCH, NYDSP5	IQ motif-containing protein H	IQCH	64799	ENSG00000103599			Iqch (MGI:1925500)
chr15	67542703	67807114	15q23	15q23	602520	MAP2K5, PRKMK5, MEK5, MAPKK5	Mitogen-activated protein kinase kinase 5	MAP2K5	5607	ENSG00000137764			Map2k5 (MGI:1346345)
chr15	67825509	67834582	15q23	15q23	611273	SKOR1, LBXCOR1, CORL1	SKI family transcriptional corepressor 1	SKOR1	390598	ENSG00000188779			Skor1 (MGI:2443473)
chr15	67839940	67840045	15q23	15q23	180692	RNU6-1, RNU6A, RNU6	RNA, U6 small nuclear 1	RNU6-1	26827	ENSG00000206625			
chr15	68054315	68193847	15q22	15q23	603566	PIAS1, DDXBP1, GBP	protein inhibitor of activated STAT, 1	PIAS1	8554	ENSG00000033800			Pias1 (MGI:1913125)
chr15	68190705	68206110	15q23	15q23	620520	CALML4	Calmodulin-like 4	CALML4	91860	ENSG00000129007			Calml4 (MGI:1922850)
chr15	68206992	68257211	15q21-q23	15q23	606725	CLN6, CLN6A	CLN6 transmembrane ER protein	CLN6	54982	ENSG00000128973		Ceroid lipofuscinosis, neuronal, 6B (Kufs type), 204300 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 6A, 601780 (3), Autosomal recessive	Cln6 (MGI:2159324)
chr15	68277745	68295862	15q23	15q23	613539	FEM1B, KIAA0396	Fem-1 homolog B	FEM1B	10116	ENSG00000169018			Fem1b (MGI:1335087)
chr15	68296532	68432163	15q23	15q23	604789	ITGA11	Integrin, alpha-11	ITGA11	22801	ENSG00000137809			Itga11 (MGI:2442114)
chr15	68518373	68727806	15q23	15q23	605002	CORO2B, CLIPINC	Coronin 2B	CORO2B	10391	ENSG00000103647			Coro2b (MGI:2444283)
chr15	68778535	68820895	15q22.3-q23	15q23	600832	ANP32A, PHAP1	Acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	ANP32A	8125	ENSG00000140350			Anp32a (MGI:108447)
chr15	68930525	68946811	15q22	15q23	609399	SPESP1	Sperm equatorial segment protein 1	SPESP1	246777	ENSG00000258484			Spesp1 (MGI:1913962)
chr15	69014695	69062762	15q23	15q23	606572	NOX5	NADPH oxidase 5	NOX5	79400				
chr15	69080850	69095824	15q23	15q23	616492	EWSAT1, LINC00277	Ewing sarcoma-associated transcript 1, noncoding	EWSAT1	283673	ENSG00000212766			
chr15	69160635	69272207	15q23	15q23	612134	GLCE, HSEPI, KIAA0836	Glucuronic acid epimerase	GLCE	26035	ENSG00000138604			Glce (MGI:2136405)
chr15	69298912	69407780	15q23	15q23	607781	PAQR5, MPRG	Progestin and ADIPOQ receptor family, member 5	PAQR5	54852	ENSG00000137819			Paqr5 (MGI:1921340)
chr15	69414349	69448427	15q23	15q23	605064	KIF23, KNSL5, MKLP1, CDAN3A	Kinesin family member 23	KIF23	9493	ENSG00000137807		Anemia, congenital dyserythropoietic, type IIIA, 105600 (3), Autosomal dominant	Kif23 (MGI:1919069)
chr15	69452818	69456205	15q23	15q23	180520	RPLP1	Ribosomal protein lateral stalk subunit P1	RPLP1	6176	ENSG00000137818			Rplp1,Rplp1rt (MGI:1927099,MGI:3646958)
chr15	69561720	69571440	15q23	15q23	616387	DRAIC	Downregulated RNA in androgen-independent cells, noncoding	DRAIC	145837	ENSG00000245750			
chr15	69592200	69695750	15q23	15q23	616273	PCAT29	Prostate cancer-associated transcript 29, noncoding	PCAT29	104472713	ENSG00000245750			
chr15	70047790	70097917	15q23	15q23	600190	TLE3, ESG	TLE family member 3, transcriptional corepressor	TLE3	7090	ENSG00000140332			Tle3 (MGI:104634)
chr15	70654554	70778903	15q24	15q23	612516	UACA, NUCLING	Uveal autoantigen with coiled-coil domains and ankyrin repeats	UACA	55075	ENSG00000137831			Uaca (MGI:1919815)
chr15	70829130	70854157	15q23	15q23	611300	LARP6, ACHN	La ribonucleoprotein 6, translational regulator	LARP6	55323	ENSG00000166173			Larp6 (MGI:1914807)
chr15	70853378	71053658	15q23	15q23	620497	LRRC49	Leucine-rich repeat-containing protein 49	LRRC49	54839	ENSG00000137821			Lrrc49 (MGI:2442689)
chr15	70881342	70892433	15q23	15q23	612538	THAP10	THAP domain-containing protein 10	THAP10	56906	ENSG00000129028			
chr15	71096894	71783383	15q23	15q23	614476	THSD4, ADAMTSL6, AAT12	Thrombospondin type-1 domain-containing 4	THSD4	79875	ENSG00000187720		Aortic aneurysm, familial thoracic 12, 619825 (3), Autosomal dominant	Thsd4 (MGI:2672033)
chr15	71810554	71818253	15q23	15q23	604485	NR2E3, PNR, ESCS, RP37	Nuclear receptor subfamily 2, group E, member 3	NR2E3	10002	ENSG00000278570	near BBS4	Retinitis pigmentosa 37, 611131 (3), Autosomal recessive, Autosomal dominant; Enhanced S-cone syndrome, 268100 (3), Autosomal recessive	Nr2e3 (MGI:1346317)
chr15	71822291	72118600	15q22-q23	15q23	604875	MYO9A, CMS24	Myosin IXa	MYO9A	4649	ENSG00000066933		Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3), Autosomal recessive	Myo9a (MGI:107735)
chr15	72114258	72143692	15q23	15q23	608659	SENP8, NEDP1, DEN1	Sentrin-specific protease family, member 8	SENP8	123228	ENSG00000166192			Senp8 (MGI:1918849)
chr15	72159806	72197787	15q23	15q23	620181	GRAMD2A	GRAM domain-containing protein 2A	GRAMD2A	196996	ENSG00000175318			Gramd2a (MGI:3528937)
chr15	72199029	72231591	15q22	15q23	179050	PKM, PKM2, PK3, THBP1	Pyruvate kinase, muscle	PKM	5315	ENSG00000067225			Pkm (MGI:97591)
chr15	72241181	72272554	15q23	15q23	619439	PARP6	Poly(ADP-ribose) polymerase family, member 6	PARP6	56965	ENSG00000137817			Parp6 (MGI:1914537)
chr15	72284727	72320157	15q24	15q23	612681	CELF6, BRUNOL6	CUGbp- and ELAV-like family, member 6	CELF6	60677	ENSG00000140488			Celf6 (MGI:1923433)
chr15	72340924	72376014	15q23-q24	15q23	606869	HEXA, TSD	Hexosaminidase A, alpha polypeptide	HEXA	3073	ENSG00000213614	on 15q+ in APL	[Hex A pseudodeficiency], 272800 (3), Autosomal recessive; GM2-gangliosidosis, several forms, 272800 (3), Autosomal recessive; Tay-Sachs disease, 272800 (3), Autosomal recessive	Hexa (MGI:96073)
chr15	72400001	88500000	15q24-q25		612274	CILD8	Ciliary dyskinesia, primary, 8		100190786		max lod at D15S154	Ciliary dyskinesia, primary, 8, 612274 (2), Autosomal recessive	
chr15	72400001	78000000	15q24		603204	ENFL2	Epilepsy, nocturnal frontal lobe, type 2		50971		some ENFL not on 20q or 15q	Epilepsy, nocturnal frontal lobe, type 2, 603204 (2), Autosomal dominant	
chr15	72400001	78000000	15q24		602685	MRST	Impaired intellectual development with spasticity and tapetoretinal degeneration		8126			Impaired intellectual development with spasticity and tapetoretinal degeneration, 602685 (2)	
chr15	72474330	72602987	15q24	15q24.1	605624	ARIH1, ARI, UBCH7BP	Ariadne, Drosophila, homolog of, 1	ARIH1	25820	ENSG00000166233			Arih1 (MGI:1344363)
chr15	72686207	72738473	15q22.3-q23	15q24.1	600374	BBS4	BBS4 gene	BBS4	585	ENSG00000140463		Bardet-Biedl syndrome 4, 615982 (3), Autosomal recessive	Bbs4 (MGI:2143311)
chr15	72751294	72783758	15q24.1	15q24.1	611861	ADPGK	ADP-dependent glucokinase	ADPGK	83440	ENSG00000159322			Adpgk (MGI:1919391)
chr15	73051692	73305206	15q22.3-q23	15q24.1	601907	NEO1, NGN	Neogenin, chicken, homolog of, 1	NEO1	4756	ENSG00000067141			Neo1 (MGI:1097159)
chr15	73319859	73368958	15q24-q25	15q24.1	605206	HCN4, SSS2, BRGDA8, EIG18	Hyperpolarization-activated cyclic nucleotide-gated potassium channel 4	HCN4	10021	ENSG00000138622	mutation identified in 1 EIG18 family	Sick sinus syndrome 2, 163800 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 18}, 619521 (3), Autosomal dominant; Brugada syndrome 8, 613123 (3)	Hcn4 (MGI:1298209)
chr15	73443164	73560013	15q24.1	15q24.1	618421	REC114, OZEMA10	Rec114 meiotic recombination protein	REC114	283677	ENSG00000183324		Oocyte/zygote/embryo maturation arrest 10, 619176 (3), Autosomal recessive	Rec114 (MGI:1920923)
chr15	73560014	73633389	15q24.1	15q24.1	612820	NPTN, SDFR1, GP55, NP55, GP65, NP65	Neuroplastin	NPTN	27020	ENSG00000156642			Nptn (MGI:108077)
chr15	73566938	73569543	15q24.1	15q24.1	615176	NPTNIT1	NPTN intronic transcript 1, noncoding	NPTN-IT1	101241892	ENSG00000281183			
chr15	73683944	73714514	15q23-q24	15q24.1	605715	CD276, B7H3	CD276 molecule	CD276	80381	ENSG00000103855			Cd276 (MGI:2183926)
chr15	73735458	73753351	15q24.1	15q24.1	617128	C15orf59, INSYN1	Chromosome 15 open reading frame 59	INSYN1	388135	ENSG00000205363			Insyn1 (MGI:2442108)
chr15	73873564	73910024	15q24.1	15q24.1	620387	TBC1D21, MGCRABGAP	TBC1 domain family, member 21	TBC1D21	161514	ENSG00000167139			Tbc1d21 (MGI:1921536)
chr15	73917468	73928248	15q24.1	15q24.1	616800	LOXL1AS1	LOXL1 antisense RNA 1	LOXL1-AS1	100287616	ENSG00000261801			
chr15	73926462	73952136	15q24.1	15q24.1	153456	LOXL1, LOXL	Lysyl oxidase-like 1	LOXL1	4016	ENSG00000129038		{Exfoliation syndrome, susceptibility to}, 177650 (3), Autosomal dominant	Loxl1 (MGI:106096)
chr15	73978926	73994622	15q22	15q24.1	608326	STOML1, STORP	Stomatin-like protein 1	STOML1	9399	ENSG00000067221			Stoml1 (MGI:1916356)
chr15	73994716	74047827	15q22	15q24.1	102578	PML, MYL	Promyelocytic leukemia, inducer of	PML	5371	ENSG00000140464	fused with RARA in APL		Pml (MGI:104662)
chr15	74069857	74082550	15q22	15q24.1	610288	GOLGA6, GLP	Golgin A6	GOLGA6A	342096	ENSG00000159289			
chr15	74100318	74141826	15q24.1	15q24.1	614179	ISLR2, LINX, KIAA1464	Immunoglobulin superfamily containing leucine-rich repeat 2	ISLR2	57611	ENSG00000167178			Islr2 (MGI:2444277)
chr15	74173710	74176871	15q23-q24	15q24.1	602059	ISLR	Immunoglobulin superfamily containing leucine-rich repeat	ISLR	3671	ENSG00000129009			Islr (MGI:1349645)
chr15	74179466	74212259	15q24.1	15q24.1	610745	STRA6, MCOPS9, MCOPCB8	Stimulated by retinoic acid 6, mouse, homolog of	STRA6	64220	ENSG00000137868		Microphthalmia, syndromic 9, 601186 (3), Autosomal recessive; Microphthalmia, isolated, with coloboma 8, 601186 (3), Autosomal recessive	Stra6 (MGI:107742)
chr15	74202999	74336472	15q24.1	15q24.1	618525	CCDC33, CT61	Coiled-coil domain containing protein 33	CCDC33	80125	ENSG00000140481			Ccdc33 (MGI:1922464)
chr15	74337762	74367646	15q24.1	15q24.1	118485	CYP11A1, P450SCC	Cytochrome P450, subfamily XIA, polypeptide 1 (cholesterol side chain cleavage enzyme)	CYP11A1	1583	ENSG00000140459		Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)	Cyp11a1 (MGI:88582)
chr15	74409289	74433958	15q24.1	15q24.1	607961	SEMA7A, SEMAL, SEMAK1, CDW108, JMH, PFIC11	Semaphorin 7A	SEMA7A	8482	ENSG00000138623	mutation identified in 1 PFIC11 patient	?Cholestasis, progressive familial intrahepatic, 11, 619874 (3), Autosomal recessive; [Blood group, John-Milton-Hagen system], 614745 (3)	Sema7a (MGI:1306826)
chr15	74445977	74461188	15q22.3-q23	15q24.1	609748	UBL7	Ubiquitin-like 7	UBL7	84993	ENSG00000138629			Ubl7 (MGI:1916709)
chr15	74541220	74598131	15q24	15q24.1	612457	ARID3B, DRIL2, BDP	AT-rich interactive domain-containing protein 3B	ARID3B	10620	ENSG00000179361			Arid3b (MGI:1930768)
chr15	74608372	74630201	15q24	15q24.1	602990	CLK3	CDC-like kinase 3	CLK3	1198	ENSG00000179335			Clk3 (MGI:1098670)
chr15	74630558	74696024	15q24.1	15q24.1	609842	EDC3, YJDC, MRT50	Enhancer of mRNA decapping 3	EDC3	80153	ENSG00000179151	mutation identified in 1 MRT50 family	?Intellectual developmental disorder, autosomal recessive 50, 616460 (3), Autosomal recessive	Edc3 (MGI:2142951)
chr15	74719542	74725528	15q24.1	15q24.1	108330	CYP1A1, CYP1	Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 1	CYP1A1	1543	ENSG00000140465	head-to-head with CYP1A2		Cyp1a1 (MGI:88588)
chr15	74748845	74756607	15q24.1	15q24.1	124060	CYP1A2	Cytochrome P450, subfamily I, aromatic compound-inducible, polypeptide 2	CYP1A2	1544	ENSG00000140505	23.3kb from CYP1A1		Cyp1a2 (MGI:88589)
chr15	74782080	74803197	15q23-q25	15q24.1	124095	CSK	c-src tyrosine kinase	CSK	1445	ENSG00000103653			Csk (MGI:88537)
chr15	74812835	74825754	15q24.1	15q24.1	609548	LMAN1L, ERGL	Lectin, mannose binding 1-like	LMAN1L	79748	ENSG00000140506			Lman1l (MGI:2667537)
chr15	74826627	74831802	15q24.1	15q24.1	609585	CPLX3	Complexin 3	CPLX3	594855	ENSG00000213578			Cplx3 (MGI:2384571)
chr15	74836118	74843156	15q24.1	15q24.1	613472	ULK3	UNC51-like kinase 3	ULK3	25989	ENSG00000140474			Ulk3 (MGI:1918992)
chr15	74843730	74873365	Chr.15	15q24.1	606912	SCAMP2	Secretory carrier membrane protein 2	SCAMP2	10066	ENSG00000140497			Scamp2 (MGI:1346518)
chr15	74890042	74902219	15q22-qter	15q24.1-q24.2	154550	MPI, PMI1, CDG1B	Mannosephosphate isomerase (phosphomannose isomerase 1)	MPI	4351	ENSG00000178802		Congenital disorder of glycosylation, type Ib, 602579 (3), Autosomal recessive	Mpi (MGI:97075)
chr15	74919791	74938073	15q25	15q24.2	603773	COX5A, MC4DN20	Cytochrome C oxidase, subunit Va	COX5A	9377	ENSG00000178741	pseudogene on 14q22	Mitochondrial complex IV deficiency, nuclear type 20, 619064 (3), Autosomal recessive	Cox5a (MGI:88474)
chr15	74954418	74956772	15q24.2	15q24.2	619235	RPP25	Ribonuclease P/MRP, 25kD subunit	RPP25	54913	ENSG00000178718			Rpp25 (MGI:2143151)
chr15	74995563	75021495	15q23	15q24.2	613766	SCAMP5	Secretory carrier membrane protein 5	SCAMP5	192683	ENSG00000198794			Scamp5 (MGI:1928948)
chr15	75023590	75050726	15q24.2	15q24.2	609854	PPCDC	Phosphopantothenoylcysteine decarboxylase	PPCDC	60490	ENSG00000138621			Ppcdc (MGI:1914062)
chr15	75336063	75343227	15q24.2	15q24.2	616701	COMMD4	COMM domain-containing protein 4	COMMD4	54939	ENSG00000140365			Commd4 (MGI:1913449)
chr15	75347039	75357115	15q24.2	15q24.2	608844	NEIL1, NEI1, FPG1	Endonuclease VIII-like 1	NEIL1	79661	ENSG00000140398			Neil1 (MGI:1920024)
chr15	75355792	75368607	15q11-q13	15q24.2	154580	MAN2C1, MANA, CDDG2	Mannosidase, alpha, class 2C, member 1	MAN2C1	4123	ENSG00000140400		Congenital disorder of deglycosylation 2, 619775 (3), Autosomal recessive	Man2c1 (MGI:1920994)
chr15	75369379	75455815	15q24	15q24.2	607776	SIN3A, WITKOS	Sin3, yeast, homolog of, A	SIN3A	25942	ENSG00000169375		Witteveen-Kolk syndrome, 613406 (3), Autosomal dominant	Sin3a (MGI:107157)
chr15	75463251	75579315	15q24.2	15q24.2	600768	PTPN9	Protein-tyrosine phosphatase, nonreceptor-type, 9	PTPN9	5780	ENSG00000169410			Ptpn9 (MGI:1928376)
chr15	75598086	75626461	15q24.2	15q24.2	607902	SNUPN, RNUT1, LGMDR29	Snurportin 1	SNUPN	10073	ENSG00000169371		Muscular dystrophy, limb-girdle, autosomal recessive 29, 620793 (3), Autosomal recessive	Snupn (MGI:1913319)
chr15	75639093	75640224	15q24	15q24.2	612980	IMP3, MRPS4, BRMS2	Imp3, S. cerevisiae, homolog of	IMP3	55272	ENSG00000177971			Imp3 (MGI:1916119)
chr15	75647912	75662301	15q24.2	15q24.2	619107	SNX33	Sorting nexin 33	SNX33	257364	ENSG00000173548			Snx33 (MGI:2443239)
chr15	75674322	75713466	15q24.2	15q24.2	601172	CSPG4, MCSPG, MSK16, NG2	Chondroitin sulfate proteoglycan	CSPG4	1464	ENSG00000173546			Cspg4 (MGI:2153093)
chr15	75843447	75901078	15q23	15q24.2	612501	UBE2Q2, LOC92912	Ubiquitin-conjugating enzyme E2 Q2	UBE2Q2	92912	ENSG00000140367			Ube2q2,Ube2q2l (MGI:2141773,MGI:2388672)
chr15	75903878	75942511	15q23	15q24.2	609096	FBXO22, FBX22	F-box only protein 22	FBXO22	26263	ENSG00000167196			Fbxo22 (MGI:1926014)
chr15	75935393	76060240	15q24.1	15q24.2	610894	NRG4, HRG4	Neuregulin 4	NRG4	145957	ENSG00000169752			Nrg4 (MGI:1933833)
chr15	76059985	76204963	15q24.2	15q24.2	618691	TMEM266, HVRP1, C15orf27	Transmembrane protein 266	TMEM266	123591	ENSG00000169758			Tmem266 (MGI:2142980)
chr15	76215353	76311469	15q23-q25	15q24.2-q24.3	608053	ETFA, GA2, MADD	Electron transfer flavoprotein, alpha polypeptide	ETFA	2108	ENSG00000140374		Glutaric acidemia IIA, 231680 (3), Autosomal recessive	Etfa (MGI:106092)
chr15	76336773	76342475	15q24.3	15q24.3	609481	ISL2	ISL2 transcription factor, LIM/homeodomain	ISL2	64843	ENSG00000159556			Isl2 (MGI:109156)
chr15	76347904	76905340	15q24	15q24.3	611611	SCAPER, KIAA1454, IDDRP	S-phase cyclin A-associated protein in the endoplasmic reticulum	SCAPER	49855	ENSG00000140386		Intellectual developmental disorder and retinitis pigmentosa, 618195 (3), Autosomal recessive	Scaper (MGI:1925976)
chr15	76931749	76954393	15q23	15q24.3	602584	RCN2, ERC55	Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)	RCN2	5955	ENSG00000117906			Rcn2 (MGI:1349765)
chr15	76994680	77037475	15q24-q25.1	15q24.3	606347	PSTPIP1, PSTPIP, CD2BP1, AICZC, PAPA	Proline-serine-threonine phosphatase-interacting protein 1	PSTPIP1	9051	ENSG00000140368		Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, 601979 (3), Autosomal dominant; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3), Autosomal dominant	Pstpip1 (MGI:1321396)
chr15	77041404	77071109	15q24.3	15q24.3	613134	TSPAN3	Tetraspanin 3	TSPAN3	10099	ENSG00000140391			Tspan3 (MGI:1928098)
chr15	77100654	77420914	15q24.3	15q24.3	614248	PEAK1, KIAA2002	Pseudopodium-enriched atypical kinase 1	PEAK1	79834	ENSG00000173517			Peak1 (MGI:2442366)
chr15	77420888	77520050	15q24	15q24.3	605534	HMG20A	High mobility group protein 20A	HMG20A	10363	ENSG00000140382			Hmg20a (MGI:1914117)
chr15	77613027	77820900	15q24	15q24.3	609791	LINGO1, LRRN6A, LERN1, MRT64	Leucine-rich repeat- and Ig domain-containing NOGO receptor-interacting protein 1	LINGO1	84894	ENSG00000169783		Intellectual developmental disorder, autosomal recessive 64, 618103 (3), Autosomal recessive	Lingo1 (MGI:1915522)
chr15	77994985	78077711	15q24.3-q25.1	15q24.3-q25.1	619152	TBC1D2B, KIAA1055, NEDSGO	TBC1 domain family, member 2B	TBC1D2B	23102	ENSG00000167202		Neurodevelopmental disorder with seizures and gingival overgrowth, 619323 (3), Autosomal recessive	Tbc1d2b (MGI:1914266)
chr15	78000001	88500000	15q25		614294	DEL15q25, C15DELq25	Chromosome 15q25 deletion syndrome				chr15:82,889,423-83,552,890, NCBI36	Chromosome 15q25 deletion syndrome, 614294 (4), Autosomal dominant	
chr15	78000001	101991189	15q25-q26		606451	DFNA30	Deafness, autosomal dominant 30		23719			Deafness, autosomal dominant 30, 606451 (2), Autosomal dominant	
chr15	78000001	93800000	15q25.1-q26.1		607728	POROK4, DSAP2	Porokeratosis 4, disseminated superficial actinic		353147		between D15S1023 and D15S1030	Porokeratosis 4, disseminated superficial actinic, 607728 (2)	
chr15	78104606	78131535	15q24	15q25.1	605564	CIB2, KIP2	Calcium- and integrin-binding protein 2	CIB2	10518	ENSG00000136425		Deafness, autosomal recessive 48, 609439 (3), Autosomal recessive; Usher syndrome, type IJ, 614869 (3), Autosomal recessive	Cib2 (MGI:1929293)
chr15	78149362	78171945	15q25.1-q25.2	15q25.1	601149	IDH3A, RP90	Isocitrate dehydrogenase (NAD+) 3, catalytic, alpha subunit	IDH3A	3419	ENSG00000166411		Retinitis pigmentosa 90, 619007 (3), Autosomal recessive	Idh3a (MGI:1915084)
chr15	78167468	78234565	12q23-q24	15q25.1	614362	ACSBG1, BG, BG1, KIAA0631	Acyl-CoA synthetase, bubble gum family, member 1	ACSBG1	23205	ENSG00000103740			Acsbg1 (MGI:2385656)
chr15	78283235	78299609	15q25.1	15q25.1	609540	SKIC8, WDR61, SKI8	SKI8 subunit of superkiller complex	SKIC8	80349	ENSG00000140395			Skic8 (MGI:1917493)
chr15	78340353	78348225	15q24	15q25.1	180230	CRABP1, RBP5	Cellular retinoic acid-binding protein-1	CRABP1	1381	ENSG00000166426	distal to APL breakpoint		Crabp1 (MGI:88490)
chr15	78437431	78501453	15q25.1	15q25.1	147582	IREB2, NDCAMA	Iron-responsive element-binding protein-2	IREB2	3658	ENSG00000136381		Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, 618451 (3), Autosomal recessive	Ireb2 (MGI:1928268)
chr15	78507577	78537373	15q25.1	15q25.1	614681	AGPHD1	Aminoglycoside phosphotransferase domain-containing protein 1	HYKK	123688	ENSG00000188266			Hykk (MGI:2443139)
chr15	78540405	78552417	15q25.1	15q25.1	176846	PSMA4, PSC9, HC9	Proteasome subunit, alpha-type, 4	PSMA4	5685	ENSG00000041357			Psma4 (MGI:1347060)
chr15	78565520	78595269	15q25.1	15q25.1	118505	CHRNA5, LNCR2	Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5	CHRNA5	1138	ENSG00000169684		{Nicotine dependence, susceptibility to}, 612052 (3); {Lung cancer susceptibility 2}, 612052 (3)	Chrna5 (MGI:87889)
chr15	78593052	78620996	15q25.1	15q25.1	118503	CHRNA3, LNCR2, PAOD2, BAIPRCK	Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3	CHRNA3	1136	ENSG00000080644		{Lung cancer susceptibility 2}, 612052 (3); Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 (3), Autosomal recessive	Chrna3 (MGI:87887)
chr15	78624111	78661641	15q24	15q25.1	118509	CHRNB4	Cholinergic receptor, neuronal nicotinic, beta polypeptide-4	CHRNB4	1143	ENSG00000117971			Chrnb4 (MGI:87892)
chr15	78759206	78811464	15q25.1	15q25.1	605009	ADAMTS7	ADAM metallopeptidase domain with thrombospondin type 1 motif, 7	ADAMTS7	11173	ENSG00000136378			Adamts7 (MGI:1347346)
chr15	78872890	78898139	15q24	15q25.1	607303	MORF4L1, MRG15	Mortality factor 4-like 1	MORF4L1	10933	ENSG00000185787			Morf4l1 (MGI:1096551)
chr15	78921058	78945046	15q24-q25	15q25.1	116820	CTSH	Cathepsin H	CTSH	1512	ENSG00000103811			Ctsh (MGI:107285)
chr15	78959906	79090780	15q25.1	15q25.1	606600	RASGRF1, GRF55	Ras protein-specific guanine nucleotide-releasing factor 1	RASGRF1	5923	ENSG00000058335			Rasgrf1 (MGI:99694)
chr15	79209788	79209871	15q25.1	15q25.1	613146	MIR184, MIRN184, KTCNCT, EDICT	Micro RNA 184	MIR184	406960	ENSG00000207695		EDICT syndrome, 614303 (3), Autosomal dominant	Mir184 (MGI:2676848)
chr15	79311112	79413886	15q25.1	15q25.1	620437	TMED3	Transmembrane p24 trafficking protein 3	TMED3	23423	ENSG00000166557			Tmed3 (MGI:1913361)
chr15	79411400	79472304	15q25.1	15q25.1	618054	KIAA1024, MINAR1	Major intrinsically disordered NOTCH2-binding receptor 1	MINAR1	23251	ENSG00000169330			Minar1 (MGI:2667167)
chr15	79843547	79897285	15q25.1	15q25.1	604197	MTHFS, NEDMEHM	5,10-methenyltetrahydrofolate synthetase	MTHFS	10588	ENSG00000136371		Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 (3), Autosomal recessive	Mthfs,Mthfsl (MGI:1340032,MGI:3780550)
chr15	79960892	79971196	15q24.3	15q25.1	601056	BCL2A1	BCL2-related protein A1	BCL2A1	597	ENSG00000140379			Bcl2a1a,Bcl2a1b,Bcl2a1c,Bcl2a1d (MGI:102687,MGI:1278325,MGI:1278326,MGI:1278327)
chr15	80058951	80138393	15q25.1	15q25.1	610183	ZFAND6, ZA20D3, AWP1	Zinc finger AN1 domain-containing protein 6	ZFAND6	54469	ENSG00000086666			Zfand6 (MGI:1929510)
chr15	80152789	80186949	15q23-q25	15q25.1	613871	FAH	Fumarylacetoacetase	FAH	2184	ENSG00000103876		Tyrosinemia, type I, 276700 (3), Autosomal recessive	Fah (MGI:95482)
chr15	80404382	80597933	15q24	15q25.1	606036	ARNT2, WEDAS	Aryl hydrocarbon receptor nuclear translocator 2	ARNT2	9915	ENSG00000172379	mutation identified in 1 WEDAS family	?Webb-Dattani syndrome, 615926 (3), Autosomal recessive	Arnt2 (MGI:107188)
chr15	80695310	80755621	15q25.1	15q25.1	617944	ABHD17C, FAM108C1	Abhydrolase domain-containing protein 17C, depalmitoylase	ABHD17C	58489	ENSG00000136379			Abhd17c (MGI:1917428)
chr15	80779370	80951771	15q24	15q25.1	608366	CEMIP, KIAA1199	Cell migration-inducing hyaluronidase 1	CEMIP	57214	ENSG00000103888			Cemip (MGI:2443629)
chr15	80946289	80989819	15q25.1	15q25.1	607783	MESD, MESDC2, BOCA, KIAA0081, OI20	Mesoderm development LRP chaperone	MESD	23184	ENSG00000117899		Osteogenesis imperfecta, type XX, 618644 (3), Autosomal recessive	Mesd (MGI:1891421)
chr15	81000923	81005788	15q25.1	15q25.1	615466	TLNRD1, MESDC1	Talin rod domain containing 1	TLNRD1	59274	ENSG00000140406			Tlnrd1 (MGI:1891420)
chr15	81182712	81314058	15q26.1	15q25.1	603035	IL16, LCF	Interleukin 16	IL16	3603	ENSG00000172349			Il16 (MGI:1270855)
chr15	81309053	81324141	15q26	15q25.1	607050	STARD5	Start domain-containing protein 5	STARD5	80765	ENSG00000172345			Stard5 (MGI:2156765)
chr15	81331088	81374213	15q25.1	15q25.1	617196	TMC3	Transmembrane channel-like protein 3	TMC3	342125	ENSG00000188869			Tmc3 (MGI:2669033)
chr15	82041778	82046018	15q25.2	15q25.2	611008	MEX3B, RKHD3	Mex-3, C. elegans, homolog of, B	MEX3B	84206	ENSG00000183496			Mex3b (MGI:1918252)
chr15	82130233	82262734	15q25.2	15q25.2	617538	EFL1, RIA1, EFTUD1, FAM42A, SDS2	Elongation factor-like GTPase 1	EFL1	79631	ENSG00000140598		Shwachman-Diamond syndrome 2, 617941 (3), Autosomal recessive	Efl1 (MGI:2141969)
chr15	82536750	82540457	15q	15q25.2	180472	RPS17, RPS17L1, RPS17L2, DBA4	Ribosomal protein S17	RPS17	6218	ENSG00000182774	previously on chr.11; pseudogenes on 5q33-qter and 17q	Diamond-Blackfan anemia 4, 612527 (3), Autosomal dominant	Rps17 (MGI:1309526)
chr15	82543201	82648795	15q25.2	15q25.2	607342	CPEB1	Cytoplasmic polyadenylation element-binding protein 1	CPEB1	64506	ENSG00000214575			Cpeb1 (MGI:108442)
chr15	82659281	82709875	15q25.2	15q25.2	602166	AP3B2, NAPTB, DEE48	Adaptor-related protein complex 3, beta 2 subunit	AP3B2	8120	ENSG00000103723		Developmental and epileptic encephalopathy 48, 617276 (3), Autosomal recessive	Ap3b2 (MGI:1100869)
chr15	82755945	82756071	15q25.2	15q25.2	612675	SCARNA15, ACA45	Small cajal body-specific RNA 15	SCARNA15	677778	ENSG00000277864			
chr15	82809628	82836108	15q25.2	15q25.2	612393	WHAMM, KIAA1971	Was protein homolog associated with actin, golgi membranes, and microtubules	WHAMM	123720	ENSG00000156232			Whamm (MGI:2142282)
chr15	82834661	82986157	15q24.3	15q25.2	604799	HOMER2, HOMER2B, HOMER2A, DFNA68	Homer scaffold protein 2	HOMER2	9455	ENSG00000103942	mutation identified in 1 DFNA68 family	?Deafness, autosomal dominant 68, 616707 (3), Autosomal dominant	Homer2 (MGI:1347354)
chr15	82986210	82991057	15q25.2	15q25.2	614547	FAM103A1, RAM	Family with sequence similarity 103, member A1	RAMAC	83640	ENSG00000169612			Ramac,Ramacl (MGI:1914398,MGI:3642136)
chr15	83016423	83067252	15q25.2	15q25.2	608530	BTBD1	BTB/POZ domain-containing protein 1	BTBD1	53339	ENSG00000064726			Btbd1 (MGI:1933765)
chr15	83107645	83137408	15q24-q26	15q25.2	606562	TM6SF1	Transmembrane 6 superfamily, member 1	TM6SF1	53346	ENSG00000136404			Tm6sf1 (MGI:1933209)
chr15	83112738	83207823	15q25	15q25.2	616643	HRP3, HDGFRP3	Hepatoma-derived growth factor-related protein 3	HDGFL3	50810	ENSG00000166503			Hdgfl3 (MGI:1352760)
chr15	83255884	83284664	15q25.1	15q25.2	601930	BNC1, POF16	Basonuclin	BNC1	646	ENSG00000169594	mutation identified in 1 POF16 family	?Premature ovarian failure 16, 618723 (3), Autosomal dominant	Bnc1 (MGI:1097164)
chr15	83447341	83633820	15q24	15q25.2	603362	SH3GL3	SH3-domain GRB2-like 3	SH3GL3	6457	ENSG00000140600			Sh3gl3 (MGI:700011)
chr15	83654123	84039842	15q25.2	15q25.2	609199	ADAMTSL3, KIAA1233	ADAMTS-like protein 3	ADAMTSL3	57188	ENSG00000156218			Adamtsl3 (MGI:3028499)
chr15	84631460	84642463	15q25.2	15q25.2	610417	SCAND2	SCAN domain-containing 2	SCAND2P	54581				
chr15	84639285	84654283	15q25.2	15q25.2	616144	WDR73, HSPC264, GAMOS1	WD repeat-containing protein 73	WDR73	84942	ENSG00000177082		Galloway-Mowat syndrome 1, 251300 (3), Autosomal recessive	Wdr73 (MGI:1919218)
chr15	84655132	84658199	15q22-qter	15q25.2	162340	NMB	Neuromedin B	NMB	4828	ENSG00000197696			Nmb (MGI:1915289)
chr15	84669544	84716139	15q25.2-q25.3	15q25.2-q25.3	618258	SEC11A, SPC18	SEC11 homolog A, signal peptidase complex subunit	SEC11A	23478	ENSG00000140612			Sec11a (MGI:1929464)
chr15	84700001	98000000	15q25.3-q26.2		608691	MDD2	Major depressive disorder 2		431709			Major depressive disorder 2, 608516 (2)	
chr15	84748592	84806445	15q25.3	15q25.3	613624	ZNF592, KIAA0211	Zinc finger protein 592	ZNF592	9640	ENSG00000166716			Zfp592 (MGI:2443541)
chr15	84817356	84873479	15q25.2	15q25.3	617608	ALPK3, MIDORI, KIAA1330, CMH27	Alpha kinase 3	ALPK3	57538	ENSG00000136383		Cardiomyopathy, familial hypertrophic 27, 618052 (3), Autosomal recessive	Alpk3 (MGI:2151224)
chr15	84884662	84975649	15q25-q26	15q25.3	606207	SLC28A1, CNT1, URCTU	Solute carrier family 28 (sodium-coupled nucleoside transporter), member 1	SLC28A1	9154	ENSG00000156222		[Uridine-cytidineuria], 618477 (3), Autosomal recessive	Slc28a1 (MGI:3605073)
chr15	84980467	85139142	15q25.3-q26.1	15q25.3	602972	PDE8A	Phosphodiesterase 8A	PDE8A	5151	ENSG00000073417			Pde8a (MGI:1277116)
chr15	85380603	85749358	15q24-q25	15q25.3	604686	AKAP13, HT31, LBC, BRX	A-kinase anchor protein 13	AKAP13	11214	ENSG00000170776			Akap13 (MGI:2676556)
chr15	85759326	85794925	15q25.3	15q25.3	619893	KLHL25	Kelch-like family, member 25	KLHL25	64410	ENSG00000183655			Klhl25 (MGI:2668031)
chr15	86079620	87031476	15q25.3	15q25.3	615496	AGBL1, CCP4, FECD8	ATP/GTP-binding protein-like 1	AGBL1	123624	ENSG00000273540		Corneal dystrophy, Fuchs endothelial, 8, 615523 (3), Autosomal dominant	Agbl1 (MGI:3646469)
chr15	87859751	88256739	15q25	15q25.3	191316	NTRK3, TRKC	Neurotrophic tyrosine kinase, receptor, type 3	NTRK3	4916	ENSG00000140538			Ntrk3 (MGI:97385)
chr15	88459478	88467388	15q24-q25	15q25.3	611851	MRPL46	Mitochondrial ribosomal protein L46	MRPL46	26589	ENSG00000259494			Mrpl46 (MGI:1914558)
chr15	88467708	88480776	15q25	15q25.3	611977	MRPS11	Mitochondrial ribosomal protein S11	MRPS11	64963	ENSG00000181991			Mrps11 (MGI:1915244)
chr15	88500001	101991189	15q26-qter		612626	DEL15q26qter, C15DELq26qter	Chromosome 15q26-qter deletion syndrome				contiguous gene deletion syndrome	Chromosome 15q26-qter deletion syndrome, 612626 (4), Isolated cases	
chr15	88500001	93800000	15q26.1		142340	DIH1, HCD	Diaphragmatic hernia 1		1732			Diaphragmatic hernia 1, 142340 (2), Multifactorial	
chr15	88500001	101991189	15q26		600318	IDDM3	Insulin-dependent diabetes mellitus-3		3402			{Diabetes mellitus, insulin-dependent, 3}, 600318 (2)	
chr15	88500001	101991189	15q26-qter		614846	LVSKS	Levy-Shanske syndrome (tetrasomy 15q26)					Levy-Shanske syndrome, 614846 (4), Isolated cases	
chr15	88500001	101991189	15q26.1-qter		166800	OTSC1, OTS	Otosclerosis 1		5012			Otosclerosis 1, 166800 (2), Autosomal dominant	
chr15	88500001	93800000	15q26.1		620900	STRTS	Short tandem repeat, TTTG(4), thyroid-specific		136932118			Hypothyroidism, congenital, nongoitrous, 3, 609893 (3), Autosomal dominant	
chr15	88500001	101991189	15q26		609289	VVS	Syncope, familial vasovagal		105031671			Syncope, familial vasovagal, 609289 (2), Autosomal dominant	
chr15	88501919	88546703	15q25.3	15q26.1	608727	DET1	DET1 partner of COP1 E2 ubiquitin ligase	DET1	55070	ENSG00000140543			Det1 (MGI:1923625)
chr15	88604683	88632281	15q26.1	15q26.1	610177	ISG20L1, AEN	Interferon-stimulated exonuclease gene 20kD-like 1	AEN	64782	ENSG00000181026			Aen (MGI:1915298)
chr15	88608107	88608197	15q26.1	15q26.1	620899	MIR1179	Micro RNA 1179	MIR1179	100302235	ENSG00000221630			Mir1193 (MGI:3783366)
chr15	88611825	88611934	15q26.1	15q26.1	620898	MIR7-2	Micro RNA 7-2	MIR7-2	407044	ENSG00000207703			Mir7-1 (MGI:3619436)
chr15	88635632	88656483	15q26	15q26.1	604533	ISG20, HEM45	Interferon-stimulated exonuclease gene 20	ISG20	3669	ENSG00000172183			Isg20 (MGI:1928895)
chr15	88803436	88875353	15q26.1	15q26.1	155760	ACAN, AGC1, CSPG1, MSK16, SEDK, SSOAOD	Aggrecan (chondroitin sulfate proteoglycan-1, large aggregating proteoglycan, antigen identifies by monoclonal antibody A0122)	ACAN	176	ENSG00000157766	mutation identified in 1 SEDK family	?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3), Autosomal dominant; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3), Autosomal recessive	Acan (MGI:99602)
chr15	88898683	88913379	15q25	15q26.1	602281	MFGE8	Milk fat globule-EGF factor 8	MFGE8	4240	ENSG00000140545			Mfge8 (MGI:102768)
chr15	89040998	89202355	15q26.1	15q26.1	612196	ABHD2, LABH2	Abhydrolase domain-containing 2, acylglycerol lipase	ABHD2	11057	ENSG00000140526			Abhd2 (MGI:1914344)
chr15	89209869	89221579	15q26	15q26.1	180090	RLBP1	Retinaldehyde-binding protein-1, cellular	RLBP1	6017	ENSG00000140522		Bothnia retinal dystrophy, 607475 (3), Autosomal recessive; Newfoundland rod-cone dystrophy, 607476 (3); Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant; Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant	Rlbp1 (MGI:97930)
chr15	89243979	89317259	15q25-q26	15q26.1	611360	FANCI, KIAA1794	FANCI gene	FANCI	55215	ENSG00000140525		Fanconi anemia, complementation group I, 609053 (3), Autosomal recessive	Fanci (MGI:2384790)
chr15	89316320	89334824	15q25	15q26.1	174763	POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS	Polymerase (DNA directed), gamma	POLG	5428	ENSG00000140521	PEO also digenic with C10orf2	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3), Autosomal recessive; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3), Autosomal dominant; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3), Autosomal recessive	Polg (MGI:1196389)
chr15	89330208	89333809	15q26.1	15q26.1	620759	POLGARF	POLG alternative reading frame	POLGARF	125316803	ENSG00000291307			
chr15	89368017	89368106	15q26.1	15q26.1	611188	MIR9-3, MIRN9-3	Micro RNA 9-3	MIR9-3	407051	ENSG00000284329			Mir9-3 (MGI:3619443)
chr15	89471407	89496583	15q25	15q26.1	605381	RHCG, RHGK	Rhesus blood group-associated kidney homolog	RHCG	51458	ENSG00000140519			Rhcg (MGI:1888517)
chr15	89575469	89628023	15q26.1	15q26.1	613298	C15orf42, TRESLIN	Treslin	TICRR	90381	ENSG00000140534			Ticrr (MGI:1924261)
chr15	89617309	89663049	15q26.1	15q26.1	611254	KIF7, HLS2, ACLS, JBTS12, AGBK	Kinesin family member 7	KIF7	374654	ENSG00000166813	mutation identified in 1 HLS2 family and 1 AGBK family	Joubert syndrome 12, 200990 (3), Autosomal recessive; Acrocallosal syndrome, 200990 (3), Autosomal recessive; ?Hydrolethalus syndrome 2, 614120 (3), Autosomal recessive; ?Al-Gazali-Bakalinova syndrome, 607131 (3), Autosomal recessive	Kif7 (MGI:1098239)
chr15	89664367	89679367	15q26	15q26.1	170290	PLIN1, PLIN, FPLD4	Perilipin 1	PLIN1	5346	ENSG00000166819		Lipodystrophy, familial partial, type 4, 613877 (3), Autosomal dominant	Plin1 (MGI:1890505)
chr15	89681535	89690754	15q26.1	15q26.1	603866	PEX11A	Peroxisome biogenesis factor 11A	PEX11A	8800	ENSG00000166821			Pex11a (MGI:1338788)
chr15	89690348	89743638	15q26.1	15q26.1	619891	WDR93	WD repeat-containing protein 93	WDR93	56964	ENSG00000140527			Wdr93 (MGI:3646885)
chr15	89732446	89751249	15q26.1	15q26.1	608689	MESP1	Mesoderm posterior bHLH transcription factor 1	MESP1	55897	ENSG00000166823			Mesp1 (MGI:107785)
chr15	89776332	89778754	15q26.1	15q26.1	605195	MESP2, SCDO2	Mesoderm posterior bHLH transcription factor 2	MESP2	145873	ENSG00000188095		Spondylocostal dysostosis 2, autosomal recessive, 608681 (3), Autosomal recessive	Mesp2 (MGI:1096325)
chr15	89784895	89814852	15q25-q26	15q26.1	151530	ANPEP, PEPN, CD13	Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150)	ANPEP	290	ENSG00000166825			Anpep (MGI:5000466)
chr15	89830599	89893994	15q26.1	15q26.1	602416	AP3S2	Adaptor-related protein complex 3, sigma-2 subunit	AP3S2	10239	ENSG00000157823			Ap3s2 (MGI:1337060)
chr15	89895006	89912952	15q26.1	15q26.1	615543	C15orf38, ARPIN	Chromosome 15 open reading frame 38	ARPIN	348110	ENSG00000242498			Arpin (MGI:1917670)
chr15	90083045	90102468	15q26.1	15q26.1	147650	IDH2, IDPM, D2HGA2	Isocitrate dehydrogenase (NADP+) 2	IDH2	3418	ENSG00000182054		D-2-hydroxyglutaric aciduria 2, 613657 (3)	Idh2 (MGI:96414)
chr15	90184920	90229661	15q26.1	15q26.1	617029	SEMA4B	Semaphorin 4B	SEMA4B	10509	ENSG00000185033			Sema4b (MGI:107559)
chr15	90229975	90265759	15q25.3-q26.1	15q26.1	602293	CIB1, KIP, EV3	Calcium- and integrin-binding protein 1	CIB1	10519	ENSG00000185043		{Epidermodysplasia verruciformis, susceptibility to, 3}, 618267 (3), Autosomal recessive	Cib1 (MGI:1344418)
chr15	90234209	90245811	15q26.1	15q26.1	619240	GDPGP1	GDP-D-glucose phosphorylase 1	GDPGP1	390637	ENSG00000183208			Gdpgp1 (MGI:2443429)
chr15	90249556	90265477	15q26.1	15q26.1	620485	TTLL13	Tubulin tyrosine ligase-like 13	TTLL13	440307	ENSG00000213471			Ttll13 (MGI:1920845)
chr15	90265663	90272211	15q26.1	15q26.1	616718	NGRN	Neurite outgrowth-associated protein	NGRN	51335	ENSG00000182768			Ngrn (MGI:1933212)
chr15	90388242	90502239	15q26	15q26.1	603379	IQGAP1, SAR1	RASGAP-like with IQ motifs (sar1, S. pombe, homolog of)	IQGAP1	8826	ENSG00000140575	amplified in gastric cancer		Iqgap1 (MGI:1352757)
chr15	90529923	90645345	15q26.1	15q26.1	608986	CRTC3, TORC3	CREB-regulated transcription coactivator 3	CRTC3	64784	ENSG00000140577			Crtc3 (MGI:1917711)
chr15	90717346	90816166	15q26.1	15q26.1	604610	RECQL3, RECQ2, BLM, BS, MGRISCE1	DNA helicase, RecQ-like 3	BLM	641	ENSG00000197299		Bloom syndrome, 210900 (3), Autosomal recessive	Blm (MGI:1328362)
chr15	90868588	90883457	15q25-q26	15q26.1	136950	FURIN, PACE, FUR, PCSK3	Furin (paired basic amino acid cleaving enzyme)	FURIN	5045	ENSG00000140564	less than 1.1kb 5' to FES		Furin (MGI:97513)
chr15	90884504	90895776	15q26.1	15q26.1	190030	FES	Oncogene FES, feline sarcoma virus	FES	2242	ENSG00000182511			Fes (MGI:95514)
chr15	90902382	90922585	15q25	15q26.1	600988	MAN2A2, MANA2X	Mannosidase, alpha-, type II, isozyme X	MAN2A2	4122	ENSG00000196547			Man2a2 (MGI:2150656)
chr15	90930180	90954093	15q25-q26	15q26.1	611219	UNC45A, SMAP1, GCUNC45, OOHE	unc-45 myosin chaperone A	UNC45A	55898	ENSG00000140553		Osteootohepatoenteric syndrome, 619377 (3), Autosomal recessive	Unc45a (MGI:2142246)
chr15	90954884	90963125	15q26.1	15q26.1	617997	RCCD1	RCC1 domain-containing protein 1	RCCD1	91433	ENSG00000166965			Rccd1 (MGI:2444156)
chr15	90966040	90994535	15q26.1	15q26.1	603484	PRC1	Protein regulating cytokinesis 1	PRC1	9055	ENSG00000198901			Prc1 (MGI:1858961)
chr15	90998416	91022621	15q26.1	15q26.1	608552	VPS33B, KDIDAR, PFIC12	VPS33B late endosome and lysosome associated	VPS33B	26276	ENSG00000184056		Keratoderma-ichthyosis-deafness syndrome, autosomal recessive, 620009 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic, 12, 620010 (3), Autosomal recessive; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3), Autosomal recessive	Vps33b (MGI:2446237)
chr15	91099588	91302565	15q26.1	15q26.1	185861	SV2B, KIAA0735	Synaptic vesicle glycoprotein 2B	SV2B	9899	ENSG00000185518			Sv2b (MGI:1927338)
chr15	91853708	92172435	15q26	15q26.1	612435	SLCO3A1, OATPD, OATP3A1	Solute carrier organic anion transporter family, member 3A1	SLCO3A1	28232	ENSG00000176463			Slco3a1 (MGI:1351867)
chr15	92393881	92468728	15q26	15q26.1	602546	STX	Sialyltransferase X	ST8SIA2	8128	ENSG00000140557			St8sia2 (MGI:106020)
chr15	92882843	92898747	15q26.1	15q26.1	620993	CHASERR, LINC01578, NEDFSAB	CHD2-adjacent suppressive regulatory RNA	CHASERR	100507217			Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, 621012 (3), Autosomal dominant	Chaserr (MGI:1916420)
chr15	92900324	93027996	15q26	15q26.1	602119	CHD2, DEE94	Chromodomain helicase DNA binding protein-2	CHD2	1106	ENSG00000173575		Developmental and epileptic encephalopathy 94, 615369 (3), Autosomal dominant	Chd2 (MGI:2448567)
chr15	93035271	93089211	15q26.1	15q26.1	607362	RGMA	RGM domain family, member A (repulsive guidance molecule)	RGMA	56963	ENSG00000182175			Rgma (MGI:2679262)
chr15	94231366	94483952	15q26.2	15q26.2	616297	MCTP2	Multiple C2 domains-containing transmembrane protein 2	MCTP2	55784	ENSG00000140563			Mctp2 (MGI:2685335)
chr15	96326046	96340263	15q26.1-q26.2	15q26.2	107773	NR2F2, TFCOUP2, ARP1, CHTD4, SRXX5	Nuclear receptor subfamily 2, group F, member 2 (transcription factor COUP 2)	NR2F2	7026	ENSG00000185551		46XX sex reversal 5, 618901 (3), Autosomal dominant; Congenital heart defects, multiple types, 4, 615779 (3), Autosomal dominant	Nr2f2 (MGI:1352452)
chr15	96783435	96785615	15q26.2	15q26.2	613948	SPATA8, SRG8	Spermatogenesis-associated protein 8	SPATA8	145946	ENSG00000185594			
chr15	97960703	97973833	15q26.2	15q26.2	619788	ARRDC4	Arrestin domain-containing protein 4	ARRDC4	91947	ENSG00000140450			Arrdc4 (MGI:1913662)
chr15	98645863	98650787	15q26.3	15q26.3	619212	IRAIN, IGF1RAS	IGF1R antisense imprinted noncoding RNA	IRAIN	104472848				
chr15	98648539	98964530	15q26.3	15q26.3	147370	IGF1R	Insulin-like growth factor-1 receptor	IGF1R	3480	ENSG00000140443		Insulin-like growth factor I, resistance to, 270450 (3), Autosomal recessive, Autosomal dominant	Igf1r (MGI:96433)
chr15	99105080	99141767	15q26.3	15q26.3	606087	SYNM, DMN	Synemin	SYNM	23336	ENSG00000182253			Synm (MGI:2661187)
chr15	99565417	99716488	15q26	15q26.3	600660	MEF2A, ADCAD1	MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	MEF2A	4205	ENSG00000068305		{Coronary artery disease, autosomal dominant, 1}, 608320 (3), Autosomal dominant	Mef2a (MGI:99532)
chr15	99971437	100341975	15q24	15q26.3	607511	ADAMTS17, WMS4	ADAM metallopeptidase domain with thrombospondin type 1 motif, 17	ADAMTS17	170691	ENSG00000140470		Weill-Marchesani 4 syndrome, recessive, 613195 (3), Autosomal recessive	Adamts17 (MGI:3588195)
chr15	100400395	100544683	15q26.3	15q26.3	615276	CERS3, LASS3, ARCI9	Ceramide synthase 3	CERS3	204219	ENSG00000154227		Ichthyosis, congenital, autosomal recessive 9, 615023 (3), Autosomal recessive	Cers3 (MGI:2681008)
chr15	100566924	100602184	15q26	15q26.3	610350	LINS1, WINS1, FLJ10583, MRT27	Lines homolog 1	LINS1	55180	ENSG00000140471		Intellectual developmental disorder, autosomal recessive 27, 614340 (3), Autosomal recessive	Lins1 (MGI:1919885)
chr15	100602589	100651701	15q26.3	15q26.3	615052	ASB7	Ankyrin repeat- and SOCS box-containing protein 7	ASB7	140460	ENSG00000183475			Asb7 (MGI:2152835)
chr15	100879831	100916626	15q26	15q26.3	600463	ALDH1A3, ALDH6, MCOP8	Aldehyde dehydrogenase 1 family, member A3	ALDH1A3	220	ENSG00000184254		Microphthalmia, isolated 8, 615113 (3), Autosomal recessive	Aldh1a3 (MGI:1861722)
chr15	100919357	101078257	15q26.3	15q26.3	610986	LRRK1, OSMD	Leucine-rich repeat kinase 1	LRRK1	79705	ENSG00000154237		Osteosclerotic metaphyseal dysplasia, 615198 (3), Autosomal recessive	Lrrk1 (MGI:2142227)
chr15	101175727	101252048	15q26.3	15q26.3	608183	CHSY1, KIAA0990, TPBS	Carbohydrate synthase 1	CHSY1	22856	ENSG00000131873		Temtamy preaxial brachydactyly syndrome, 605282 (3), Autosomal recessive	Chsy1 (MGI:2681120)
chr15	101270809	101277485	15q26.3	15q26.3	607918	SELENOS, SEPS1, SELS, VIMP, ADO15	Selenoprotein S	SELENOS	55829	ENSG00000131871			Selenos (MGI:95994)
chr15	101281510	101295248	15q26.3	15q26.3	603521	SNRPA1	Small nuclear ribonucleoprotein polypeptide A'	SNRPA1	6627	ENSG00000131876			Snrpa1 (MGI:1916231)
chr15	101303933	101489707	15q26	15q26.3	167405	PCSK6, PACE4, SPC4	Proprotein convertase subtilisin/kexin type 6	PCSK6	5046	ENSG00000140479			Pcsk6 (MGI:102897)
chr15	101632977	101652381	15q26.3	15q26.3	610014	TM2D3, BLP2	TM2 domain-containing protein 3	TM2D3	80213	ENSG00000184277			Tm2d3 (MGI:1915884)
chr15	1	101991189	Chr.15		120340	COL1AR	Collagen I, alpha, receptor		1279				
chr16	1	16700000	16p13		608903	ADHD1	Attention deficit-hyperactivity disorder, susceptibility to, 1		450087		max lod at D16S3114	{Attention deficit-hyperactivity disorder, susceptibility to, 1}, 608903 (2)	
chr16	1	16700000	16p13		608558	BMIQ5	Body mass index quantitative trait locus 5		449016		near D16S404 and D16S764	[Body mass index QTL5], 608558 (2)	
chr16	1	16700000	16pter-p13		607339	CHDS1	Coronary heart disease, susceptibility to, 1		338334			{Coronary heart disease, susceptibility to}, 607339 (2)	
chr16	1	7800000	16p13.3		610543	DEL16p13.3, RSTSS	Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion syndrome)				contiguous gene deletion syndrome	Chromosome 16p13.3 deletion syndrome, 610543 (4)	
chr16	1	7800000	16p13.3		613458	DUP16p13.3, C16DUPq13.3	Chromosome 16p13.3 duplication syndrome				contiguous gene duplication syndrome	Chromosome 16p13.3 duplication syndrome, 613458 (4), Autosomal dominant, Isolated cases	
chr16	1	7800000	16pter-p13.3		141750	HBHR, ATR1	Alpha-thalassemia/impaired intellectual development syndrome, deletion type				contiguous gene syndrome involving deletion of HBA1 and HBA2	Alpha-thalassemia/impaired intellectual development syndrome, deletion type, 141750 (4), Autosomal dominant	
chr16	1	36800001	16p		606668	IBD8	Inflammatory bowel disease 8		170595			{Inflammatory bowel disease 8}, 606668 (2)	
chr16	1	28500000	16p13-p12		610260	IHPS2	Pyloric stenosis, infantile hypertrophic, 2		780923			Pyloric stenosis, infantile hypertrophic, 2, 610260 (2)	
chr16	1	7800000	16p13.3		156850	MCOPCT1	Microphthalmia with cataract 1		8130		proximal to HBA1	Microphthalmia with cataract 1, 156850 (2), Autosomal dominant	
chr16	1	7800000	16p13.3		600273	PKDTS	Polycystic kidney disease, infantile severe, with tuberous sclerosis				contiguous gene syndrome caused by deletion of TSC2 and PKD1	Polycystic kidney disease, infantile severe, with tuberous sclerosis, 600273 (4), Autosomal dominant	
chr16	46407	53608	16p13.3	16p13.3	606007	POLR3K, RPC11, HLD21	Polymerase III, RNA, subunit K	POLR3K	51728	ENSG00000161980		Leukodystrophy, hypomyelinating, 21, 619310 (3), Autosomal recessive	Polr3k (MGI:1914255)
chr16	58059	76360	16p13.3	16p13.3	614403	RHBDF1, IRHOM1, DIST1	Rhomboid 5, Drosophila, homolog of, 1	RHBDF1	64285	ENSG00000007384			Rhbdf1 (MGI:104328)
chr16	77007	85846	16pter-p13.3	16p13.3	156565	MPG, MDG	N-methylpurine DNA glycosylase	MPG	4350	ENSG00000103152	75kb upstream of HBZ		Mpg (MGI:97073)
chr16	85386	138673	16p13.3	16p13.3	600928	NPRL3, CGTHBA, FFEVF3	Nitrogen permease regulator-like 3	NPRL3	8131	ENSG00000103148		Epilepsy, familial focal, with variable foci 3, 617118 (3), Autosomal dominant	Nprl3 (MGI:109258)
chr16	152644	154503	16pter-p13.3	16p13.3	142310	HBZ	Hemoglobin, zeta	HBZ	3050	ENSG00000130656			Hba-x (MGI:96019)
chr16	165978	166764	16p13.3	16p13.3	609639	HBM	Hemoglobin mu	HBM	3042	ENSG00000206177	?functional		
chr16	172876	173710	16pter-p13.3	16p13.3	141850	HBA2, HBH, ECYT7	Hemoglobin alpha-2	HBA2	3040	ENSG00000188536		Heinz body anemia, 140700 (3), Autosomal dominant; Thalassemia, alpha-, 604131 (3); Erythrocytosis, familial, 7, 617981 (3), Autosomal dominant; Hemoglobin H disease, deletional and nondeletional, 613978 (3)	Hba-a1,Hba-a2 (MGI:96015,MGI:96016)
chr16	176680	177522	16pter-p13.3	16p13.3	141800	HBA1, HBH, METHBA, ECYT7	Hemoglobin alpha-1	HBA1	3039	ENSG00000206172	1, 2, or 3 loci; 5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3'	Hemoglobin H disease, nondeletional, 613978 (3); Thalassemias, alpha-, 604131 (3); Heinz body anemias, alpha-, 140700 (3), Autosomal dominant; Methemoglobinemia, alpha type, 617973 (3), Autosomal dominant; Erythrocytosis, familial, 7, 617981 (3), Autosomal dominant	Hba-a1,Hba-a2 (MGI:96015,MGI:96016)
chr16	180459	181179	16pter-p13.3	16p13.3	142240	HBQ1	Hemoglobin theta-1	HBQ1	3049	ENSG00000086506			Hbq1a,Hbq1b (MGI:2685722,MGI:3613460)
chr16	188990	229449	16p13.3	16p13.3	607782	LUC7L	LUC7-like	LUC7L	55692	ENSG00000007392			Luc7l (MGI:1914228)
chr16	268307	275944	16p13.3	16p13.3	603895	RS11	Regulator of G protein signaling 11	RGS11	8786	ENSG00000076344			Rgs11 (MGI:1354739)
chr16	280591	283010	16p13.3	16p13.3	602844	ARHGDIG	Rho GDP-dissociation inhibitor gamma	ARHGDIG	398	ENSG00000242173			Arhgdig (MGI:108430)
chr16	283164	287215	16p13.3	16p13.3	608012	PDIA2, PDIP	Protein disulfide isomerase, family A, member 2	PDIA2	64714	ENSG00000185615			Pdia2 (MGI:1916441)
chr16	287440	352723	16p13.3	16p13.3	603816	AXIN1, AXIN, CMDOH	Axis inhibitor 1	AXIN1	8312	ENSG00000103126	hypermethylation of AXIN1 promoter seen in 1 CDUP patient	Hepatocellular carcinoma, somatic, 114550 (3); Craniometadiaphyseal osteosclerosis with hip dysplasia, 620558 (3), Autosomal recessive; ?Caudal duplication anomaly, 607864 (3)	Axin1 (MGI:1096327)
chr16	366969	370538	16p13.3	16p13.3	604853	MRPL28, MAAT1	Mitochondrial ribosomal protein L28	MRPL28	10573	ENSG00000086504			Mrpl28 (MGI:1915861)
chr16	370788	386979	16p13.3	16p13.3	619342	PGAP6, TMEM8A	Post-GPI attachment to proteins 6	PGAP6	58986	ENSG00000129925			Pgap6 (MGI:1926283)
chr16	396729	400754	16p13.3	16p13.3	601818	NME4	NME/NM23 nucleoside diphosphate kinase 4	NME4	4833	ENSG00000103202			Nme4 (MGI:1931148)
chr16	401885	412482	16p13.3	16p13.3	615839	DECR2, PDCR	2,4-dienoyl-CoA reductase 2, peroxisomal	DECR2	26063	ENSG00000242612			Decr2 (MGI:1347059)
chr16	425649	523011	16p13.3	16p13.3	608738	RAB11FIP3, EFERIN, KIAA0665	RAB11 family-interacting protein 3	RAB11FIP3	9727	ENSG00000090565			Rab11fip3 (MGI:2444431)
chr16	527712	554636	16p13.3	16p13.3	603267	CAPN15, SOLH, OGIN	Calpain 15	CAPN15	6650	ENSG00000103326		Oculogastrointestinal neurodevelopmental syndrome, 619318 (3), Autosomal recessive	Capn15 (MGI:1355075)
chr16	569968	584109	16p13.3	16p13.3	605754	PIGQ, MCAHS4, DEE77, GPIBD19	Phosphatidylinositol glycan anchor biosynthesis class Q protein	PIGQ	9091	ENSG00000007541		Multiple congenital anomalies-hypotonia-seizures syndrome 4, 618548 (3), Autosomal recessive	Pigq (MGI:1333114)
chr16	589357	629268	16p13.3	16p13.3	619551	RAB40C	RAB40C, member Ras oncogene family	RAB40C	57799	ENSG00000197562			Rab40c (MGI:2183454)
chr16	630985	634117	16p13.3	16p13.3	608021	WFIKKN1, WFIKKN	WAP, follistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 1	WFIKKN1	117166	ENSG00000127578			Wfikkn1 (MGI:2670967)
chr16	648979	667830	16p13.3	16p13.3	618290	WDR90, KIAA1924	WD repeat-containing protein 90	WDR90	197335	ENSG00000161996			Wdr90 (MGI:1921267)
chr16	668083	674174	16p13.3	16p13.3	613889	RHOT2, MIRO2, ARHT2	Ras homolog gene family, member T2	RHOT2	89941	ENSG00000140983			Rhot2 (MGI:2384892)
chr16	675671	678268	16p13.3	16p13.3	603264	RHBDL, RRP	Rhomboid, Drosophila, homolog of	RHBDL1	9028	ENSG00000103269			Rhbdl1 (MGI:2384891)
chr16	680410	682801	16p13.3	16p13.3	607207	STUB1, CHIP, SCAR16, SCA48	STIP1 homologous and U box-containing protein 1	STUB1	10273	ENSG00000103266		Spinocerebellar ataxia 48, 618093 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 16, 615768 (3), Autosomal recessive	Stub1 (MGI:1891731)
chr16	684622	690398	16p13.3	16p13.3	620307	WDR24	WD repeat-containing protein 24	WDR24	84219	ENSG00000127580			Wdr24 (MGI:2446285)
chr16	692500	705801	16p13.3	16p13.3	609082	FBXL16, FBL16, C16orf22	F-box and leucine-rich repeat protein 16	FBXL16	146330	ENSG00000127585			Fbxl16 (MGI:2448488)
chr16	715118	719655	16p13.3	16p13.3	610998	METRN	Meteorin	METRN	79006	ENSG00000103260			Metrn (MGI:1917333)
chr16	721146	722590	16p13.3	16p13.3	618566	ANTKMT	Adenine nucleotide translocase lysine methyltransferase	ANTKMT	65990	ENSG00000103254			Antkmt (MGI:2384888)
chr16	722582	726880	16p13.3	16p13.3	614666	CCDC78, C16orf25, CNM4	Coiled-coil domain-containing protein 78	CCDC78	124093	ENSG00000162004	mutation identified in 1 CNM4 family	?Centronuclear myopathy 4, 614807 (3), Autosomal dominant	Ccdc78 (MGI:2685784)
chr16	729765	740997	16p13.3	16p13.3	611118	NARFL, IOP1	Nuclear prelamin A recognition factor-like	CIAO3	64428	ENSG00000103245			Ciao3 (MGI:1914813)
chr16	760734	768865	16p13.3	16p13.3	601051	MSLN	Mesothelin	MSLN	10232	ENSG00000102854			Msln (MGI:1888992)
chr16	788620	798074	16p13.3	16p13.3	613201	CHTF18, CHL12, CTF18	Chromosome transmission fidelity factor 18	CHTF18	63922	ENSG00000127586			Chtf18 (MGI:2384887)
chr16	798041	800734	16p13.3	16p13.3	607298	GNG13	Guanine nucleotide-binding protein, gamma-13	GNG13	51764	ENSG00000127588			Gng13 (MGI:1925616)
chr16	853634	981613	16p13.3	16p13.3	611761	LMF1, TMEM112	Lipase maturation factor 1	LMF1	64788	ENSG00000103227		Lipase deficiency, combined, 246650 (3), Autosomal recessive	Lmf1 (MGI:1923733)
chr16	981770	986979	16p13.3	16p13.3	605923	SOX8	SRY-box 8	SOX8	30812	ENSG00000005513			Sox8 (MGI:98370)
chr16	1072747	1081454	16p13.3	16p13.3	182455	SSTR5	Somatostatin receptor-5	SSTR5	6755	ENSG00000162009			Sstr5 (MGI:894282)
chr16	1088226	1096306	16p13.3	16p13.3	614147	C1QTNF8, CTRP8	C1q- and tumor necrosis factor-related protein 8	C1QTNF8	390664	ENSG00000184471			
chr16	1153106	1221768	16p13.3	16p13.3	607904	CACNA1H, EIG6, ECA6, HALD4	Calcium channel, voltage-dependent, T type, alpha-1H subunit	CACNA1H	8912	ENSG00000196557		{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3); Hyperaldosteronism, familial, type IV, 617027 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)	Cacna1h (MGI:1928842)
chr16	1221651	1225268	16p13.3	16p13.3	609341	TPSG1, TMT	Tryptase, gamma-1	TPSG1	25823	ENSG00000116176			Tpsg1 (MGI:1349391)
chr16	1228336	1230184	16p13.3	16p13.3	191081	TPSB2, TPS2	Tryptase, beta 2	TPSB2	64499	ENSG00000197253			Tpsab1,Tpsb2 (MGI:96942,MGI:96943)
chr16	1240705	1242554	16p13.3	16p13.3	191080	TPSAB1, TPS1	Tryptase, alpha/beta-1	TPSAB1	7177	ENSG00000172236			Tpsab1,Tpsb2 (MGI:96942,MGI:96943)
chr16	1256069	1259008	16p13.3	16p13.3	609272	TPSD1, MCP7L1	Tryptase, delta-1	TPSD1	23430	ENSG00000095917			Tpsab1 (MGI:96943)
chr16	1309152	1327017	16p13.3	16p13.3	601661	UBE2I	Ubiquitin-conjugating enzyme E2 I	UBE2I	7329	ENSG00000103275			Ube2i (MGI:107365)
chr16	1333645	1349439	16p13.3	16p13.3	604009	BAIAP3, BAP3	BAI1-associated protein 3	BAIAP3	8938	ENSG00000007516			Baiap3 (MGI:2685783)
chr16	1349240	1351878	16p13.3	16p13.3	617058	TSR3	TSR3, aminocarboxypropyl transferase ribosome maturation factor	TSR3	115939	ENSG00000007520			Tsr3 (MGI:1915577)
chr16	1351931	1364113	16p	16p13.3	607838	GNPTG, GNPTAG	N-acetylglucosamine-1-phosphotransferase, gamma subunit	GNPTG	84572	ENSG00000090581		Mucolipidosis III gamma, 252605 (3), Autosomal recessive	Gnptg (MGI:2147006)
chr16	1363205	1414704	16p13.3	16p13.3	617463	UNKL, ZC3H5L, C16orf28	Unkempt family-like zinc finger	UNKL	64718	ENSG00000059145			Unkl (MGI:1921404)
chr16	1419752	1420747	16p13.3	16p13.3	620578	UQCC4, C16orf91	Ubiquinol-cytochrome c reductase complex assembly factor 4	UQCC4	283951	ENSG00000174109			Uqcc4 (MGI:2670966)
chr16	1431078	1434441	16p13.3	16p13.3	618656	PERCC1, ICR, DIAR11	Proline- and glutamate-rich protein with coiled-coil domain 1	PERCC1	105371045	ENSG00000284395	Intestine Critical Region (ICR) upstream of PERCC1 deleted in DIAR11	Diarrhea 11, malabsorptive, congenital, 618662 (3), Autosomal recessive	Percc1 (MGI:5621540)
chr16	1434383	1444556	16p13.3	16p13.3	618740	CCDC154, C16orf29	Coiled-coil domain-containing protein 154	CCDC154	645811	ENSG00000197599			Ccdc154 (MGI:2685163)
chr16	1444935	1475028	16p13	16p13.3	602727	CLCN7, CLC7, OPTA2, OPTB4, HOD	Chloride channel-7	CLCN7	1186	ENSG00000103249		Hypopigmentation, organomegaly, and delayed myelination and development, 618541 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 4, 611490 (3), Autosomal recessive; Osteopetrosis, autosomal dominant 2, 166600 (3), Autosomal dominant	Clcn7 (MGI:1347048)
chr16	1485886	1488944	16p13.3	16p13.3	613442	PTX4	Pentraxin 4, long	PTX4	390667	ENSG00000251692			Ptx4 (MGI:1915759)
chr16	1493360	1510454	16p13.3	16p13.3	611140	TELO2, TEL2, CLK2, KIAA0683, HCLK2, YHFS	Telomere maintenance 2	TELO2	9894	ENSG00000100726		You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive	Telo2 (MGI:1918968)
chr16	1510427	1612072	16p13.3	16p13.3	614620	IFT140, KIAA0590, SRTD9, MZSDS, RP80	Intraflagellar transport 140	IFT140	9742	ENSG00000187535		Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3), Autosomal recessive; Retinitis pigmentosa 80, 617781 (3), Autosomal recessive	Ift140 (MGI:2146906)
chr16	1528678	1555568	16p13.3	16p13.3	611002	TMEM204, C16orf30, CLP24	Transmembrane protein 204	TMEM204	79652	ENSG00000131634			Tmem204 (MGI:3039635)
chr16	1678279	1702086	16p13.3	16p13.3	619241	JPT2, C16orf34, HN1L	Jupiter microtubule-associated homolog 2	JPT2	90861	ENSG00000206053			Jpt2 (MGI:1196260)
chr16	1706195	1770351	16p13.3	16p13.3	605431	MAPK8IP3, SYD2, JSAP1, JIP3, NEDBA	Mitogen-activated protein kinase 8-interacting protein 3	MAPK8IP3	23162	ENSG00000138834		Neurodevelopmental disorder with or without variable brain abnormalities, 618443 (3), Autosomal dominant	Mapk8ip3 (MGI:1353598)
chr16	1770320	1771543	16p13.3	16p13.3	601817	NME3, NM23H3	NME/NM23 nucleoside diphosphate kinase 3	NME3	4832	ENSG00000103024			Nme3 (MGI:1930182)
chr16	1771895	1773134	16q13-q21	16p13.3	611994	MRPS34, MRPS12, COXPD32	Mitochondrial ribosomal protein S34	MRPS34	65993	ENSG00000074071		Combined oxidative phosphorylation deficiency 32, 617664 (3), Autosomal recessive	Mrps34 (MGI:1930188)
chr16	1772810	1781702	16p13.3	16p13.3	610886	EME2	Essential meiotic structure-specific endonuclease 2	EME2	197342	ENSG00000197774			Eme2 (MGI:1919889)
chr16	1776712	1782571	16p13.3	16p13.3	611659	SPSB3, SSB3	SPRY domain- and SOCS box-containing 3	SPSB3	90864	ENSG00000162032			Spsb3 (MGI:1891471)
chr16	1782960	1789186	16p13.3	16p13.3	610779	NUBP2, CFD1	Nucleotide-binding protein 2	NUBP2	10101	ENSG00000095906			Nubp2 (MGI:1347072)
chr16	1790413	1794908	16p13.3	16p13.3	601489	IGFALS, ALS, ACLSD	Insulin-like growth factor-binding protein, acid-labile subunit	IGFALS	3483	ENSG00000099769		Acid-labile subunit, deficiency of, 615961 (3), Autosomal recessive	Igfals (MGI:107973)
chr16	1807629	1827194	16p13	16p13.3	138760	HAGH, GLO2, GLO2D	Hydroxyacyl glutathione hydrolase; glyoxalase II	HAGH	3029	ENSG00000063854		[Glyoxalase II deficiency], 614033 (1), Autosomal dominant	Hagh (MGI:95745)
chr16	1827206	1840207	16p13.3	16p13.3	616320	FAHD1, FLJ36880	Fumarylacetoacetate hydrolase domain-containing protein 1	FAHD1	81889	ENSG00000180185			Fahd1 (MGI:1915886)
chr16	1833986	1872164	16p13.3	16p13.3	617670	MEIOB, SPGF22, POF23	Meiosis-specific protein with OB domains	MEIOB	254528	ENSG00000162039		Premature ovarian failure 23, 620686 (3), Autosomal recessive; Spermatogenic failure 22, 617706 (3), Autosomal recessive	Meiob (MGI:1922428)
chr16	1911475	1920940	16p13.3	16p13.3	619210	HS3ST6, 3OST6, HAE8	Heparan sulfate-glucosamine 3-sulfotransferase 6	HS3ST6	64711	ENSG00000162040	mutation identified in 1 HAE8 family	?Angioedema, hereditary, 8, 619367 (3), Autosomal dominant	Hs3st6 (MGI:3580487)
chr16	1938229	1943199	16p13.3	16p13.3	606216	MSRB1, SEPX1, SELX	Methionine sulfoxide reductase B1	MSRB1	51734	ENSG00000198736			Msrb1 (MGI:1351642)
chr16	1943974	1954689	16p13.3	16p13.3	617416	RPL3L, CMD2D	Ribosomal protein L3-like	RPL3L	6123	ENSG00000140986		Cardiomyopathy, dilated, 2D, 619371 (3), Autosomal recessive	Rpl3l (MGI:1913461)
chr16	1959538	1961975	16p13.3	16p13.3	603843	NDUFB10, MC1DN35	NADH-ubiquinone oxidoreductase subunit B10	NDUFB10	4716	ENSG00000140990	mutation identified in 1 MC1DN35 patient	?Mitochondrial complex I deficiency, nuclear type 35, 619003 (3), Autosomal recessive	Ndufb10 (MGI:1915592)
chr16	1962058	1964826	16p13.3	16p13.3	603624	RPS2	Ribosomal protein S2	RPS2	6187	ENSG00000140988			Rps2 (MGI:105110)
chr16	1972053	1982929	16p13.3	16p13.3	605915	TBL3	Transducin-beta-like 3	TBL3	10607	ENSG00000183751			Tbl3 (MGI:2384863)
chr16	1978917	1981469	16p13	16p13.3	611256	NOXO1	NADPH oxidase organizer 1	NOXO1	124056	ENSG00000196408			Noxo1 (MGI:1919143)
chr16	1984193	1987749	16p13.3-p13.12	16p13.3	600924	GFER, ERV1, ALR, MPMCD	Growth factor, ERV1-like	GFER	2671	ENSG00000127554		Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, 613076 (3), Autosomal recessive	Gfer (MGI:107757)
chr16	1989970	1994275	16pter	16p13.3	603927	SYNGR3	Synaptogyrin 3	SYNGR3	9143	ENSG00000127561			Syngr3 (MGI:1341881)
chr16	1997654	2009821	16p13.3	16p13.3	617508	ZNF598	Zinc finger protein 598	ZNF598	90850	ENSG00000167962			Zfp598 (MGI:2670965)
chr16	2019785	2020755	16p13.3	16p13.3	607997	NPW, PPNPW, PPL8	Neuropeptide W	NPW	283869	ENSG00000183971			Npw (MGI:2685781)
chr16	2026902	2039026	16p13.3	16p13.3	606553	SLC9A3R2, SIP1, NHERF2	Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 2	NHERF2	9351	ENSG00000065054			Nherf2 (MGI:1890662)
chr16	2039820	2047834	16p13.3-p13.2	16p13.3	602656	NTHL1, OCTS3, FAP3	Endonuclease III, E. coli, homolog of	NTHL1	4913	ENSG00000065057		Familial adenomatous polyposis 3, 616415 (3), Autosomal recessive	Nthl1 (MGI:1313275)
chr16	2047985	2089491	16p13.3	16p13.3	191092	TSC2, LAM	Tuberin (tuberous sclerosis 2 gene)	TSC2	7249	ENSG00000103197	somatic mutation identified in 1 FCORD2 patient	Lymphangioleiomyomatosis, somatic, 606690 (3); ?Focal cortical dysplasia, type II, somatic, 607341 (3); Tuberous sclerosis-2, 613254 (3), Autosomal dominant	Tsc2 (MGI:102548)
chr16	2088708	2135898	16p13.3-p13.12	16p13.3	601313	PKD1	Polycystin-1	PKD1	5310	ENSG00000008710		Polycystic kidney disease 1, 173900 (3), Autosomal dominant	Pkd1 (MGI:97603)
chr16	2090195	2090284	16p13.3	16p13.3	611621	MIR1225, MIRN1225	Micro RNA 1225	MIR1225	100188847	ENSG00000221656			
chr16	2148144	2154165	16p13.3	16p13.3	605455	RAB26	RAS-associated protein RAB26	RAB26	25837	ENSG00000167964			Rab26 (MGI:2443284)
chr16	2155782	2178129	16p13.3	16p13.3	606692	TRAF7, RFWD1, CAFDADD	TNF receptor-associated factor 7	TRAF7	84231	ENSG00000131653		Cardiac, facial, and digital anomalies with developmental delay, 618164 (3), Autosomal dominant	Traf7 (MGI:3042141)
chr16	2177180	2196605	16p13.3	16p13.3	612184	CASKIN1, KIAA1306	CASK-interacting protein 1	CASKIN1	57524	ENSG00000167971			Caskin1 (MGI:2442952)
chr16	2205454	2209453	16p13.3	16p13.3	612190	MLST8, GBL, LST8, WAT1, POP3	MTOR-associated protein LST8	MLST8	64223	ENSG00000167965			Mlst8 (MGI:1929514)
chr16	2211593	2214840	16p13.3	16p13.3	172280	PGP	Phosphoglycolate phosphatase	PGP	283871	ENSG00000184207	no recombination with PKD1		Pgp (MGI:1914328)
chr16	2223591	2235742	16p13.3	16p13.3	603022	E4F1, E4F	E4F transcription factor 1	E4F1	1877	ENSG00000167967			E4f1 (MGI:109530)
chr16	2236444	2238711	16p13.3	16p13.3	602622	DNASE1L2	Deoxyribonuclease I-like 2	DNASE1L2	1775	ENSG00000167968			Dnase1l2 (MGI:1913955)
chr16	2239402	2251587	16p13.3	16p13.3	600305	ECI1, DCI	Enoyl-CoA delta isomerase 1	ECI1	1632	ENSG00000167969			Eci1 (MGI:94871)
chr16	2253116	2268126	16p13.3	16p13.3	606447	RNPS1	RNA-binding protein S1	RNPS1	10921	ENSG00000205937			Rnps1 (MGI:97960)
chr16	2275881	2340728	16p13.3	16p13.3	601615	ABCA3, ABC3, SMDP3	ATP-binding cassette-3	ABCA3	21	ENSG00000167972		Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3), Autosomal recessive	Abca3 (MGI:1351617)
chr16	2429447	2458854	16p13.3	16p13.3	600227	CCNF, FBX1, FTDALS5	Cyclin F	CCNF	899	ENSG00000162063		Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, 619141 (3), Autosomal dominant	Ccnf (MGI:102551)
chr16	2471297	2474145	16p13.3	16p13.3	602349	NTN3, NTN2L	Netrin 3	NTN3	4917	ENSG00000162068			Ntn3 (MGI:1341188)
chr16	2475127	2505730	16p13.3	16p13.3	613577	TBC1D24, KIAA1171, FIME, DEE16, DOORS, DFNB86, DFNA65, EPRPDC	TBC1 domain family, member 24	TBC1D24	57465	ENSG00000162065		Deafness, autosomal recessive 86, 614617 (3), Autosomal recessive; Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, 608105 (3), Autosomal recessive; Myoclonic epilepsy, infantile, familial, 605021 (3), Autosomal recessive; Deafness, autosomal dominant 65, 616044 (3), Autosomal dominant; Developmental and epileptic encephalopathy 16, 615338 (3), Autosomal recessive; DOORS syndrome, 220500 (3), Autosomal recessive	Tbc1d24 (MGI:2443456)
chr16	2513726	2520218	16p13.3	16p13.3	108745	ATP6V0C, ATP6L, ATP6C, EPEO3	ATPase, H+ transporting, V0 subunit C	ATP6V0C	527	ENSG00000185883		Epilepsy, early-onset, 3, with or without developmental delay, 620465 (3), Autosomal dominant	Atp6v0c (MGI:88116)
chr16	2520371	2531417	16p13.3	16p13.3	620864	AMDHD2	Amindohydrolase domain-containing protein 2	AMDHD2	51005	ENSG00000162066			Amdhd2 (MGI:2443978)
chr16	2530035	2531408	16p13.3	16p13.3	611113	CEMP1, CP23	Cementum protein 1	CEMP1	752014	ENSG00000205923			
chr16	2538021	2603188	16p13.3	16p13.3	605213	PDPK1, PDK1	3-phosphoinositide-dependent protein kinase 1	PDPK1	5170	ENSG00000140992			Pdpk1 (MGI:1338068)
chr16	2682523	2709030	16p13.3	16p13.3	611285	KCTD5	Potassium channel tetramerization domain-containing protein 5	KCTD5	54442	ENSG00000167977			Kctd5 (MGI:1916509)
chr16	2712422	2720224	16p13.3	16p13.3	608018	PRSS27	Serine protease 27	PRSS27	83886	ENSG00000172382			Prss27 (MGI:2450123)
chr16	2752638	2771412	16p13.3	16p13.3	606032	SRRM2, SRM300, KIAA0324, MRD72	Serine/arginine repetitive matrix 2 (ser/arg-rich splicing factor-related nuclear matrix protein, 300kD)	SRRM2	23524	ENSG00000167978		Intellectual developmental disorder, autosomal dominant 72, 620439 (3), Autosomal dominant	Srrm2 (MGI:1923206)
chr16	2771414	2777280	16p13.3	16p13.3	600787	TCEB2, ELOB	Transcription elongation factor B, polypeptide 2	ELOB	6923	ENSG00000103363			Elob (MGI:1914923)
chr16	2783953	2787915	16p13.3	16p13.3	613797	PRSS33, EOS	Protease, serine, 33	PRSS33	260429	ENSG00000103355			Prss33 (MGI:2661234)
chr16	2817237	2821719	16p13.3	16p13.3	608159	PRSS21, ESP1	Protease, serine, 21 (testisin)	PRSS21	10942	ENSG00000007038			Prss21 (MGI:1916698)
chr16	2830303	2832276	16p13.3	16p13.3	620477	ZG16B, PAUF	Zymogen granule protein 16B	ZG16B	124220	ENSG00000162078			Sbp,Sbpl (MGI:106021,MGI:3694550)
chr16	2852730	2858170	16p13.3	16p13.3	609343	PRSS22	Protease, serine, 22	PRSS22	64063	ENSG00000005001			Prss22 (MGI:1918085)
chr16	2911931	2951208	16p13.3	16p13.3	620431	FLYWCH1	FLYWCH-type zinc finger protein 1	FLYWCH1	84256	ENSG00000059122			Flywch1 (MGI:2442638)
chr16	2964275	2968380	16p13.3	16p13.3	609899	KREMEN2, KRM2	Kringle domain-containing transmembrane protein 2	KREMEN2	79412	ENSG00000131650			Kremen2 (MGI:1920266)
chr16	2969348	2973484	16p13.3	16p13.3	614578	PAQR4	Progestin and ADIPOQ receptor family, member 4	PAQR4	124222	ENSG00000162073			Paqr4 (MGI:1923748)
chr16	2972808	2980446	16p13.3	16p13.3	602474	PKMYT1, MYT1	Protein kinase, membrane-associated tyrosine/threonine, 1	PKMYT1	9088	ENSG00000127564			Pkmyt1 (MGI:2137630)
chr16	3012923	3014505	16p13.3	16p13.3	615799	CLDN9, DFNB116	Claudin 9	CLDN9	9080	ENSG00000213937		Deafness, autosomal recessive 116, 619093 (3), Autosomal recessive	Cldn9 (MGI:1913100)
chr16	3014712	3018183	16p13.3	16p13.3	615798	CLDN6	Claudin 6	CLDN6	9074	ENSG00000184697			Cldn6 (MGI:1859284)
chr16	3020368	3022383	16p13.3	16p13.3	605914	TNFRSF12A, FN14, TWEAKR	Tumor necrosis factor receptor superfamily, member 12A	TNFRSF12A	51330	ENSG00000006327			Tnfrsf12a (MGI:1351484)
chr16	3022620	3024286	16p13.3	16p13.3	618818	HCFC1R1, HPIP	Host cell factor C1 regulator 1	HCFC1R1	54985	ENSG00000103145			Hcfc1r1 (MGI:2663619)
chr16	3024035	3027750	16p13.3	16p13.3	615403	THOC6, FSAP35, BBIS	THO complex subunit 6	THOC6	79228	ENSG00000131652		Beaulieu-Boycott-Innes syndrome, 613680 (3), Autosomal recessive	Thoc6 (MGI:2677480)
chr16	3027682	3036944	16p13.3	16p13.3	617003	BICDL2, BICDR2, CCDC64B	BICD family-like cargo adaptor 2	BICDL2	146439	ENSG00000162069			Bicdl2 (MGI:2388267)
chr16	3046561	3060726	16p13.3	16p13.3	608482	MMP25, MMP20A	Matrix metalloproteinase 25	MMP25	64386	ENSG00000008516			Mmp25 (MGI:2443938)
chr16	3065403	3069530	16p13.3	16p13.3	606001	IL32, NK4	Interleukin 32	IL32	9235	ENSG00000008517			
chr16	3088890	3099294	16p13.3	16p13.3	618365	ZSCAN10, ZFP206, OFNS	Zinc finger- and SCAN domain-containing protein 10	ZSCAN10	84891	ENSG00000130182		Otofacial neurodevelopmental syndrome, 620910 (3), Autosomal recessive	Zscan10 (MGI:3040700)
chr16	3112586	3120517	16p13.3	16p13.3	603436	ZNF205, ZNF210	Zinc finger protein-205	ZNF205	7755	ENSG00000122386			Zfp13 (MGI:99159)
chr16	3135029	3142804	16p13.3	16p13.3	608387	ZNF213, CR53	Zinc finger protein 213	ZNF213	7760	ENSG00000085644			Zfp213 (MGI:3053094)
chr16	3188204	3206556	16p13	16p13.3	603232	OR1F1, OLFMF	Olfactory receptor, family 1, subfamily F, member 1	OR1F1	4992	ENSG00000168124			Or1f19 (MGI:3032605)
chr16	3222325	3235158	16p13	16p13.3	603231	ZNF200	Zinc finger protein-200	ZNF200	7752	ENSG00000010539			
chr16	3242027	3256633	16p13	16p13.3	608107	MEFV, MEF, FMF, PAAND	MEFV innate immunity regulator, pyrin	MEFV	4210	ENSG00000103313	between D16S80 and D16S283	Neutrophilic dermatosis, acute febrile, 608068 (3), Autosomal dominant; Familial Mediterranean fever, AR, 249100 (3), Autosomal recessive; Familial Mediterranean fever, AD, 134610 (3), Autosomal dominant	Mefv (MGI:1859396)
chr16	3283491	3301401	16p13.3	16p13.3	604191	ZNF263	Zinc finger protein 263	ZNF263	10127	ENSG00000006194			Zfp263 (MGI:1921370)
chr16	3298808	3305430	16p13	16p13.3	612969	TIGD7, SANCHO	Tigger transposable element-derived gene 7	TIGD7	91151	ENSG00000140993			
chr16	3305497	3323465	16pter-p11	16p13.3	601473	ZNF75A	Zinc finger protein-75A	ZNF75A	7627	ENSG00000162086			
chr16	3401215	3409364	16p13.3	16p13.3	603900	ZNF174	Zinc finger protein-174	ZNF174	7727	ENSG00000103343			Zfp174 (MGI:2686600)
chr16	3432414	3443504	16p13.3	16p13.3	614685	ZNF597	Zinc finger protein 597	ZNF597	146434	ENSG00000167981			Zfp597 (MGI:1918313)
chr16	3443611	3486963	16p13.3	16p13.3	614246	NAA60, NAT15, IBGC9	N-alpha-acetyltransferase 60, NatF catalytic subunit	NAA60	79903	ENSG00000122390		Basal ganglia calcification, idiopathic, 9, autosomal recessive, 620786 (3), Autosomal recessive	Naa60 (MGI:1922013)
chr16	3495427	3539048	16p13	16p13.3	616787	CLUAP1, QILIN, FAP22, KIAA0643	Clusterin-associated protein 1	CLUAP1	23059	ENSG00000103351			Cluap1 (MGI:1924029)
chr16	3539033	3577403	16p13.3	16p13.3	615648	NLRC3	NLR family, caspase recruitment domain-containing 3	NLRC3	197358	ENSG00000167984			Nlrc3 (MGI:2444070)
chr16	3581181	3611606	16p13.3	16p13.3	613278	SLX4, BTBD12, MUS312, KIAA1784, KIAA1987, FANCP	SLX4 structure-specific endonuclease subunit	SLX4	84464	ENSG00000188827		Fanconi anemia, complementation group P, 613951 (3), Autosomal recessive	Slx4 (MGI:106299)
chr16	3611760	3665461	16p13.3	16p13.3	125505	DNASE1, DNL1	Deoxyribonuclease I	DNASE1	1773	ENSG00000213918		{Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant	Dnase1 (MGI:103157)
chr16	3658037	3717524	16p13.3	16p13.3	606219	TRAP1, HSP75, HSP90L	Tumor necrosis factor receptor-associated protein 1	TRAP1	10131	ENSG00000126602			Trap1 (MGI:1915265)
chr16	3725054	3880713	16p13.3	16p13.3	600140	CREBBP, CBP, RSTS1, MKHK1	CREB binding protein	CREBBP	1387	ENSG00000005339	fusion partner with MORF in AML; fusion partner with MLL in therapy-related acute leukemia; fusion partner with MOZ in AML	Menke-Hennekam syndrome 1, 618332 (3), Autosomal dominant; Rubinstein-Taybi syndrome 1, 180849 (3), Autosomal dominant	Crebbp (MGI:1098280)
chr16	3953387	4116442	16p13.3	16p13.3	603302	ADCY9	Adenylate cyclase-9	ADCY9	115	ENSG00000162104			Adcy9 (MGI:108450)
chr16	4189374	4242080	16p13.3	16p13.3	604992	SRL	Sarcalumenin	SRL	6345	ENSG00000185739			Srl (MGI:2146620)
chr16	4257186	4273023	16p13	16p13.3	600743	TFAP4	Transcription factor AP-4 (activating enhancer-binding protein 4)	TFAP4	7023	ENSG00000090447			Tfap4 (MGI:103239)
chr16	4314761	4339595	16p13.3	16p13.3	608539	GLIS2, NPHP7	GLIS family zinc finger protein 2	GLIS2	84662	ENSG00000126603		Nephronophthisis 7, 611498 (3), Autosomal recessive	Glis2 (MGI:1932535)
chr16	4340251	4351321	16p13.3	16p13.3	614336	PAM16, MAGMAS, SMDMDM	Presequence translocase-associated motor 16	PAM16	51025	ENSG00000217930		Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3), Autosomal recessive	Pam16,Pam16l (MGI:1913699,MGI:3704359)
chr16	4354542	4416596	16p13.3	16p13.3	611668	CORO7, POD1, CRN7	Coronin 7	CORO7	79585	ENSG00000262246			Coro7 (MGI:1926135)
chr16	4371848	4383538	16p13.3	16p13.3	608843	VASN	Vasorin	VASN	114990	ENSG00000168140			Vasn (MGI:2177651)
chr16	4425868	4456775	16p13.3	16p13.3	608382	DNAJA3, TID1	DNAJ, E. coli, homolog of, subfamily A, member 3	DNAJA3	9093	ENSG00000103423			Dnaja3 (MGI:1933786)
chr16	4461694	4476337	16p13.3	16p13.3	620004	NMRAL1, HSCARG	NMRA-like redox sensor 1	NMRAL1	57407	ENSG00000153406			Nmral1 (MGI:1915074)
chr16	4474736	4510347	16p13.3	16p13.3	141251	HMOX2	Heme oxygenase 2	HMOX2	3163	ENSG00000103415			Hmox2 (MGI:109373)
chr16	4510669	4538773	16p13.3	16p13.3	610503	CDIP1, C16orf5	Cell death-inducing p53 target 1	CDIP1	29965	ENSG00000089486			Cdip1 (MGI:1913876)
chr16	4624826	4690972	16p13.3	16p13.3	607559	MGRN1, KIAA0544	Mahogunin, ring finger 1	MGRN1	23295	ENSG00000102858			Mgrn1 (MGI:2447670)
chr16	4693562	4695859	16p13.3	16p13.3	617338	NUDT16L1, SDOS	Nudix hydrolase 16-like 1	NUDT16L1	84309	ENSG00000168101			Nudt16l1 (MGI:1914161)
chr16	4696511	4734271	16p13.3	16p13.3	617310	ANKS3	Ankyrin repeat and sterile alpha motif domains-containing protein 3	ANKS3	124401	ENSG00000168096			Anks3 (MGI:1919865)
chr16	4777606	4791828	16p13.3	16p13.3	611562	SEPTIN12, SEPT12, SPGF10	Septin 12	SEPTIN12	124404	ENSG00000140623		Spermatogenic failure 10, 614822 (3), Autosomal dominant	Septin12 (MGI:1918339)
chr16	4796968	4802633	16p13.3	16p13.3	614574	ROGDI, KTZS	Rogdi atypical leucine zipper	ROGDI	79641	ENSG00000067836		Kohlschutter-Tonz syndrome, 226750 (3), Autosomal recessive	Rogdi (MGI:1913299)
chr16	4803203	4847288	16p13.3	16p13.3	610660	GLYR1, NP60	Glyoxylate reductase 1 homolog	GLYR1	84656	ENSG00000140632			Glyr1 (MGI:1921272)
chr16	4847481	4882401	16p13.3	16p13.3	609771	UBN1	Ubinuclein 1	UBN1	29855	ENSG00000118900			Ubn1 (MGI:1891307)
chr16	4882507	4937148	16p13	16p13.3	602871	PPL	Periplakin	PPL	5493	ENSG00000118898			Ppl (MGI:1194898)
chr16	4958330	5019157	16p13.3	16p13.3	619412	SEC14L5, KIAA0420	Sec14-like lipid-binding protein 5	SEC14L5	9717	ENSG00000103184			Sec14l5 (MGI:3616084)
chr16	5024844	5033935	16p13.3	16p13.3	607985	NAGPA, UCE	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	NAGPA	51172	ENSG00000103174			Nagpa (MGI:1351598)
chr16	5071843	5087379	16p13.3	16p13.3	605907	ALG1, HMAT1, HMT1, CDG1K	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	ALG1	56052	ENSG00000033011		Congenital disorder of glycosylation, type Ik, 608540 (3), Autosomal recessive	Alg1 (MGI:2384774)
chr16	5084284	5097795	16p13.3	16p13.3	615263	EEF2KMT, FAM86A	Eukaryotic elongation factor 2 lysine methyltransferase	EEF2KMT	196483	ENSG00000118894			Eef2kmt (MGI:1917761)
chr16	5239721	7713340	16p13	16p13.3	605104	RBFOX1, 2BP1, FOX1, HRNBP1	RNA-binding protein FOX1, C. elegans, homolog of, 1	RBFOX1	54715	ENSG00000078328			Rbfox1 (MGI:1926224)
chr16	8526552	8590511	16p13.3	16p13.2	611579	TMEM114	Transmembrane protein 114	TMEM114	283953	ENSG00000232258			Tmem114 (MGI:1921970)
chr16	8621698	8667274	16p13.2	16p13.2	615261	METTL22, C16orf68	Methyltransferase 22, Kin17 lysine	METTL22	79091	ENSG00000067365			Mettl22 (MGI:2384301)
chr16	8674617	8784570	16p13.3	16p13.2	137150	ABAT, GABAT	4-aminobutyrate aminotransferase	ABAT	18	ENSG00000183044		GABA-transaminase deficiency, 613163 (3), Autosomal recessive	Abat (MGI:2443582)
chr16	8795180	8797639	16p13.2	16p13.2	620433	TMEM186	Transmembrane protein 186	TMEM186	25880	ENSG00000184857			Tmem186 (MGI:1913940)
chr16	8797839	8849325	16p13.3-p13.2	16p13.2	601785	PMM2, CDG1A	Phosphomannomutase 2	PMM2	5373	ENSG00000140650		Congenital disorder of glycosylation, type Ia, 212065 (3), Autosomal recessive	Pmm2 (MGI:1859214)
chr16	8852942	8869006	16p13.2	16p13.2	616885	CARHSP1, CRHSP24	Calcium-regulated heat-stable protein 1	CARHSP1	23589	ENSG00000153048			Carhsp1 (MGI:1196368)
chr16	8892097	8963906	16p13.3	16p13.2	602519	USP7, HAUSP, HAFOUS	Ubiquitin-specific protease-7, herpes virus-associated	USP7	7874	ENSG00000187555		Hao-Fountain syndrome, 616863 (3), Autosomal dominant	Usp7 (MGI:2182061)
chr16	9753404	10182908	16p13	16p13.2	138253	GRIN2A, NMDAR2A, FESD, LKS	Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	GRIN2A	2903	ENSG00000183454		Epilepsy, focal, with speech disorder and with or without impaired intellectual development, 245570 (3), Autosomal dominant	Grin2a (MGI:95820)
chr16	10386061	10483638	16p13.13	16p13.2-p13.13	613645	ATF7IP2, MCAF2	Activating transcription factor 7-interacting protein 2	ATF7IP2	80063	ENSG00000166669			Atf7ip2 (MGI:1922579)
chr16	10528422	10580598	16p13.2	16p13.13	602334	EMP2, NPHS10	Epithelial membrane protein 2	EMP2	2013	ENSG00000213853		Nephrotic syndrome, type 10, 615861 (3), Autosomal recessive	Emp2 (MGI:1098726)
chr16	10627501	10694930	16p13.13	16p13.13	618686	TEKT5	Tektin 5	TEKT5	146279	ENSG00000153060			Tekt5 (MGI:1917676)
chr16	10743842	10769351	16p13.1	16p13.13	600280	NUBP1, NBP	Nucleotide-binding protein 1	NUBP1	4682	ENSG00000103274			Nubp1 (MGI:1347073)
chr16	10866206	10943021	16p13.13	16p13.13	600005	CIITA, MHC2TA, C2TA, MHC2D1	Class II major histocompatibility complex transactivator	CIITA	4261	ENSG00000179583		{Rheumatoid arthritis, susceptibility to}, 180300 (3); MHC class II deficiency 1, 209920 (3), Autosomal recessive	Ciita (MGI:108445)
chr16	10928891	10942468	16p13.13	16p13.13	617901	DEXI, MYLE	Dexamethasone-induced gene	DEXI	28955	ENSG00000182108			Dexi (MGI:1926236)
chr16	10944564	11182186	16p13.13	16p13.13	611303	CLEC16A, KIAA0350	C-type lectin domain family 16, member A	CLEC16A	23274	ENSG00000038532			Clec16a (MGI:1921624)
chr16	11254417	11256204	16p13.2	16p13.13	603597	SOCS1, SSI1, CIS1, CISH1, AISIMD	Suppressor of cytokine signaling 1	SOCS1	8651	ENSG00000185338		Autoinflammatory syndrome, familial, with or without immunodeficiency, 619375 (3), Autosomal dominant	Socs1 (MGI:1354910)
chr16	11267857	11269325	16p13.3	16p13.13	190232	TNP2	Transition protein-2 (during histone to protamine replacement)	TNP2	7142	ENSG00000178279	in 13kb segment with PRM1 and PRM2		Tnp2 (MGI:98785)
chr16	11275639	11276480	16p13.3	16p13.13	182890	PRM2	Sperm protamine P2	PRM2	5620	ENSG00000122304	in same 4.8kb fragment as PRM2		Prm2 (MGI:97766)
chr16	11280841	11281330	16p13.3	16p13.13	182880	PRM1	Sperm protamine P1	PRM1	5619	ENSG00000175646	16q21 = conflicting localization		Prm1 (MGI:97765)
chr16	11345459	11351760	16p13.13	16p13.13	612426	RMI2, C16orf75, BLAP18	RecQ-mediated genome instability 2	RMI2	116028	ENSG00000175643			Rmi2 (MGI:2685383)
chr16	11547722	11640317	16p13.3-p12	16p13.13	603795	LITAF, CMT1C	LPS-induced TNFA factor	LITAF	9516	ENSG00000189067		Charcot-Marie-Tooth disease, type 1C, 601098 (3), Autosomal dominant	Litaf (MGI:1929512)
chr16	11668455	11679152	16p13	16p13.13	603032	SNN	Stannin	SNN	8303	ENSG00000184602			Snn (MGI:1276549)
chr16	11679083	11742857	16p13.13	16p13.13	617792	TXNDC11, EFP1	Thioredoxin domain-containing protein 11	TXNDC11	51061	ENSG00000153066			Txndc11 (MGI:1923620)
chr16	11750597	11797258	16p13.13	16p13.13	619819	ZC3H7A	Zinc finger CCCH domain-containing protein 7A	ZC3H7A	29066	ENSG00000122299			Zc3h7a (MGI:2445044)
chr16	11819830	11828832	16p13.13	16p13.13	613746	BCAR4	Breast cancer antiestrogen resistance 4	BCAR4	400500	ENSG00000262117			
chr16	11833850	11851542	16p13	16p13.13	615874	RSL1D1, CSIG, PBK1	Ribosomal L1 domain-containing protein 1	RSL1D1	26156	ENSG00000171490			Rsl1d1 (MGI:1913659)
chr16	11868128	11916654	16p13.1	16p13.13	139259	GSPT1	G1 to S phase transition-1	GSPT1	2935	ENSG00000103342			Gspt1 (MGI:1316728)
chr16	11965210	11968068	16p13.1	16p13.13	109545	TNFRSF17, BCMA	Tumor necrosis factor receptor superfamily, member 17 (B-cell maturation factor)	TNFRSF17	608	ENSG00000048462			Tnfrsf17 (MGI:1343050)
chr16	12659799	12803887	16p13.12	16p13.12	615603	CPPED1	Calcineurin-like phosphoesterase domain-containing protein 1	CPPED1	55313	ENSG00000103381			Cpped1 (MGI:2443300)
chr16	12901598	13563017	16p13.12	16p13.12	613346	SHISA9, CKAMP44	Shisa family, member 9	SHISA9	729993	ENSG00000237515			Shisa9 (MGI:1919805)
chr16	13920154	13952348	16p13.3-p13.13	16p13.12	133520	ERCC4, XPF, FANCQ, XFEPS	ERCC excision repair 4, endonuclease catalytic subunit	ERCC4	2072	ENSG00000175595		Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3), Autosomal recessive; XFE progeroid syndrome, 610965 (3), Autosomal recessive; Xeroderma pigmentosum, group F, 278760 (3), Autosomal recessive; Fanconi anemia, complementation group Q, 615272 (3), Autosomal recessive	Ercc4 (MGI:1354163)
chr16	13994774	14266779	16p13.1	16p13.12	609463	MRTFB, MKL2	Myocardin-related transcription factor B	MRTFB	57496	ENSG00000186260			Mrtfb (MGI:3050795)
chr16	14303967	14304049	16p13.12	16p13.12	614734	MIR193B	Micro RNA 193B	MIR193B	574455	ENSG00000207639			Mir193b (MGI:3718458)
chr16	14309285	14309371	16p13.12	16p13.12	614735	MIR365A	Micro RNA 365A	MIR365A	100126355	ENSG00000199130			Mir365-1 (MGI:3619371)
chr16	14435701	14630260	16p13.12	16p13.12	604212	PARN, DAN, DKCB6, PFBMFT4	Polyadenylate-specific ribonuclease	PARN	5073	ENSG00000140694		Dyskeratosis congenita, autosomal recessive 6, 616353 (3), Autosomal recessive; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4, 616371 (3), Autosomal dominant	Parn (MGI:1921358)
chr16	14632951	14669236	16p13.12	16p13.12	619516	BFAR, BAR	Bifunctional apoptosis regulator	BFAR	51283	ENSG00000103429			Bfar (MGI:1914368)
chr16	14672548	14701850	16p13.1-p12	16p13.12-p13.11	603603	PLA2G10, SPLA2, GXSPLA2	Phospholipase A2, group X	PLA2G10	8399	ENSG00000069764			Pla2g10 (MGI:1347522)
chr16	14833721	14896157	16p13.11	16p13.11	609157	NOMO1	Nodal modulator 1	NOMO1	23420	ENSG00000103512			Nomo1 (MGI:2385850)
chr16	14937443	14952056	16p13.1	16p13.11	606406	NPIP	Nuclear pore complex-interacting protein	NPIPA1	9284	ENSG00000183426			
chr16	14974735	15153218	16p13.11	16p13.11	614244	PDXDC1, KIAA0251	Pyridoxal-dependent decarboxylase domain-containing protein 1	PDXDC1	23042	ENSG00000179889			Pdxdc1 (MGI:1920909)
chr16	15037857	15056074	16p13.11	16p13.11	615367	NTAN1	N-terminal asparagine amidase	NTAN1	123803	ENSG00000157045			Ntan1 (MGI:108471)
chr16	15060022	15094335	16p12	16p13.11	605121	RRN3, TIFIA	RRN3, S. cerevisiae, homolog of	RRN3	54700	ENSG00000085721			Rrn3 (MGI:1925255)
chr16	15395754	15413271	16p13.1	16p13.11	618100	MPV17L	MPV17 mitochondrial inner membrane protein-like	MPV17L	255027	ENSG00000156968			Mpv17l (MGI:2135951)
chr16	15594387	15643154	16p13.13	16p13.11	614593	MARF1, KIAA0430, LKAP	Meiosis regulator and mRNA stability factor 1	MARF1	9665	ENSG00000166783			Marf1 (MGI:2444505)
chr16	15643382	15726353	16p13.1	16p13.11	609449	NDE1, NUDE, LIS4, MHAC	nudE neurodevelopment protein 1	NDE1	54820	ENSG00000072864		Microhydranencephaly, 605013 (3), Autosomal recessive; Lissencephaly 4 (with microcephaly), 614019 (3), Autosomal recessive	Nde1 (MGI:1914453)
chr16	15703135	15857028	16p13.13-p13.12	16p13.11	160745	MYH11, AAT4, FAA4, VSCM2	Myosin, heavy polypeptide-11, smooth muscle	MYH11	4629	ENSG00000133392	fused with CBFB by inversion in acute myelomonocytic leukemia	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, 619351 (3), Autosomal recessive; Aortic aneurysm, familial thoracic 4, 132900 (3), Autosomal dominant; Visceral myopathy 2, 619350 (3), Autosomal dominant	Myh11 (MGI:102643)
chr16	15865719	15888603	16p13.11	16p13.11	617149	CEP20, FOPNL, FOR20, C16orf63	Centrosomal protein 20	CEP20	123811	ENSG00000133393			Cep20 (MGI:1913336)
chr16	15949143	16143053	16p13.1	16p13.11	158343	ABCC1, MRP1, MRP, DFNA77	ATP-binding cassette, subfamily C, member 1 (multidrug resistance-associated protein 1)	ABCC1	4363	ENSG00000103222	mutation identified in 1 DFNA77 family	?Deafness, autosomal dominant 77, 618915 (3), Autosomal dominant	Abcc1 (MGI:102676)
chr16	16149565	16223494	16p13.1	16p13.11	603234	ABCC6, ARA, ABC34, MLP1, PXE, GACI2	ATP-binding cassette, subfamily C, member 6	ABCC6	368	ENSG00000091262		Pseudoxanthoma elasticum, 264800 (3), Autosomal recessive; Arterial calcification, generalized, of infancy, 2, 614473 (3), Autosomal recessive; Pseudoxanthoma elasticum, forme fruste, 177850 (3), Autosomal dominant	Abcc6 (MGI:1351634)
chr16	16232528	16294811	16p13.11	16p13.11	609159	NOMO3	Nodal modulator 3	NOMO3	408050	ENSG00000103226			Nomo1 (MGI:2385850)
chr16	16700001	28500000	16p12		136570	DEL16p12.1, C16DELp12.1	Chromosome 16p12.1 deletion syndrome, 520kb				between 21.85-22.37 Mb	Chromosome 16p12.1 deletion syndrome, 520kb, 136570 (4)	
chr16	16700001	28500000	16p12		611247	MAFD4, BPAD	Major affective disorder 4		100126593		max lod at D16S769	Major affective disorder 4, 611247 (2)	
chr16	16700001	28500000	16p12.3-p12.1		602594	RP22	Retinitis pigmentosa-22		6114			Retinitis pigmentosa 22, 602594 (2)	
chr16	16700001	56000000	16p12.3-q12.2		609939	SLEB6	Systemic lupus erythematosus, susceptibility to, 6					{Systemic lupus erythematosus, susceptibility to, 6}, 609939 (2)	
chr16	17101769	17470960	16p13.1	16p12.3	608124	XYLT1, XT1, DBQD2	Xylosyltransferase 1	XYLT1	64131	ENSG00000103489		Desbuquois dysplasia 2, 615777 (3), Autosomal recessive; {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive	Xylt1 (MGI:2451073)
chr16	18499927	18562112	16p12.3	16p12.3	609158	NOMO2	Nodal modulator 2	NOMO2	283820	ENSG00000185164			Nomo1 (MGI:2385850)
chr16	18781295	18790334	16p12.3	16p12.3	603674	RPS15A, DBA20	Ribosomal protein S15a	RPS15A	6210	ENSG00000134419	mutation identified in 1 DBA20 family	?Diamond-Blackfan anemia 20, 618313 (3), Autosomal dominant	Rps15a (MGI:2389091)
chr16	18791667	18801549	16p12-p11.2	16p12.3	607669	ARL6IP1, KIAA0069, SPG61	ADP ribosylation factor-like GTPase 6 interacting protein 1	ARL6IP1	23204	ENSG00000170540		Spastic paraplegia 61, autosomal recessive, 615685 (3), Autosomal recessive	Arl6ip1 (MGI:1858943)
chr16	18804860	18926408	16p12	16p12.3	607032	SMG1, LIP, KIAA0421	SMG1 nonsense-mediated mRNA decay-associated PI3K-related kinase	SMG1	23049	ENSG00000157106			Smg1 (MGI:1919742)
chr16	18983934	19063942	16p12.3	16p12.3	617198	TMC7	Transmembrane channel-like protein 7	TMC7	79905	ENSG00000170537			Tmc7 (MGI:2443317)
chr16	19067614	19083097	16p13.1-p12	16p12.3	601683	COQ7, CLK1, COQ10D8, HMNR9	COQ7, S. cerevisiae, homolog of	COQ7	10229	ENSG00000167186		Coenzyme Q10 deficiency, primary, 8, 616733 (3), Autosomal recessive; Neuronopathy, distal hereditary motor, autosomal recessive 9, 620402 (3), Autosomal recessive	Coq7 (MGI:107207)
chr16	19410539	19499113	16p12.3	16p12.3	617197	TMC5	Transmembrane channel-like protein 5	TMC5	79838	ENSG00000103534			Tmc5 (MGI:1921674)
chr16	19501693	19522098	16p12-p11.2	16p12.3	605943	GDE1, MIR16	Glycerophosphodiester phosphodiesterase 1	GDE1	51573	ENSG00000006007			Gde1 (MGI:1891827)
chr16	19523942	19553408	16p12.3	16p12.3	609544	CCP110, CP110, KIAA0419	Centrosomal coiled-coil protein, 110kD	CCP110	9738	ENSG00000103540			Ccp110 (MGI:2141942)
chr16	19555703	19701163	16p12.3	16p12.3	618981	VPS35L, C16orf62, EC97, RTSC3	VPS35 endosomal protein-sorting factor-like	VPS35L	57020	ENSG00000103544		Ritscher-Schinzel syndrome 3, 619135 (3), Autosomal recessive	Vps35l (MGI:1918767)
chr16	19856691	19885634	16p12.3-p12.1	16p12.3	605948	GPRC5B, RAIG2, MLC3	G protein-coupled receptor, family C, group 5, member B	GPRC5B	51704	ENSG00000167191		Megalencephalic leukoencephalopathy with subcortical cysts 3, 620447 (3), Autosomal dominant	Gprc5b (MGI:1927596)
chr16	20028239	20073890	16p12.3	16p12.3	618448	GPR139, GPRG1	G protein-coupled receptor 139	GPR139	124274	ENSG00000180269			Gpr139 (MGI:2685341)
chr16	20309574	20327513	16p12.3	16p12.3	602977	GP2	Glycoprotein 2, zymogen granule membrane	GP2	2813	ENSG00000169347	previously assigned to chr.9		Gp2 (MGI:1914383)
chr16	20333051	20356301	16p12.3	16p12.3	191845	UMOD, ADTKD1	Uromodulin (uromucoid, Tamm-Horsfall glycoprotein)	UMOD	7369	ENSG00000169344		Tubulointerstitial kidney disease, autosomal dominant, 1, 162000 (3), Autosomal dominant	Umod (MGI:102674)
chr16	20359175	20404737	16p12.3	16p12.3	618588	PDILT, PDIA7	Protein disulfide isomerase-like protein, testis-expressed	PDILT	204474	ENSG00000169340			Pdilt (MGI:1919080)
chr16	20409534	20441336	16p12.3	16p12.3	614361	ACSM5	Acyl-CoA synthetase medium-chain family, member 5	ACSM5	54988	ENSG00000183549			Acsm5 (MGI:2444086)
chr16	20451521	20487669	16p12.3	16p12.3	614358	ACSM2A	Acyl-CoA synthetase medium-chain family, member 2A	ACSM2A	123876	ENSG00000183747			Acsm2 (MGI:2385289)
chr16	20536226	20576367	16p12.3	16p12.3	614359	ACSM2B, HXMA	Acyl-CoA synthetase medium-chain family, member 2B	ACSM2B	348158	ENSG00000066813			Acsm2 (MGI:2385289)
chr16	20623235	20697680	16p12.3	16p12.3	614357	ACSM1, MACS1	Acyl-CoA synthetase medium-chain family, member 1	ACSM1	116285	ENSG00000166743			Acsm1 (MGI:2152200)
chr16	20674405	20797581	16p13.11	16p12.3	145505	ACSM3, SAH	Acyl-CoA synthetase medium-chain family member 3	ACSM3	6296	ENSG00000005187		{?Hypertension, essential} (1)	Acsm3 (MGI:99538)
chr16	20733664	20741818	16p12.3	16p12.3	616662	THUMPD1, NEDSOA	THUMP domain-containing protein 1	THUMPD1	55623	ENSG00000066654		Neurodevelopmental disorder with speech delay and variable ocular anomalies, 619989 (3), Autosomal recessive	Thumpd1 (MGI:2444479)
chr16	20854925	20900358	16p12.3	16p12.3	616167	DCUN1D3, SCCRO3	DCN1 domain-containing protein 3	DCUN1D3	123879	ENSG00000188215			Dcun1d3 (MGI:2679003)
chr16	20899882	20925006	16p12.3	16p12.3	614709	LYRM1	LYR motif-containing protein 1	LYRM1	57149	ENSG00000102897			Lyrm1 (MGI:1921169)
chr16	20933111	21159459	16p12	16p12.3	603334	DNAH3, DNAHC3B	Dynein, axonemal, heavy chain 3	DNAH3	55567	ENSG00000158486			Dnah3 (MGI:2683040)
chr16	21158674	21180616	16p12.3	16p12.3	611304	LDAF1, TMEM159	Lipid droplet assembly factor 1	LDAF1	57146	ENSG00000011638			Ldaf1 (MGI:1925752)
chr16	21197450	21214510	16p12	16p12.3-p12.2	182888	ZP2, OZEMA6	Zona pellucida glycoprotein 2	ZP2	7783	ENSG00000103310		Oocyte/zygote/embryo maturation arrest 6, 618353 (3), Autosomal recessive	Zp2 (MGI:99214)
chr16	21200001	35300000	16p12.2-p11.2		613604	DEL16p12.1p11.2, C16DELp12.1p11.2	Chromosome 16p12.2-p11.2 deletion syndrome				17.1-8.7 Mb contiguous gene deletion syndrome	Chromosome 16p12.2-p11.2 deletion syndrome, 613604 (4), Isolated cases	
chr16	21200001	52600000	16p12.2-q12.1		611096	MRT10, MRT20	Intellectual developmental disorder, autosomal recessive 10/20		100101425		between rs724466 and rs3901517, rs7197568 and rs71972227	Intellectual developmental disorder, autosomal recessive 10/20, 611096 (2), Autosomal recessive	
chr16	21233699	21253850	16p12.2	16p12.2	609901	ANKS4B, HARP, FLJ38819	Ankyrin repeat and sterile alpha motif domain-containing protein 4B	ANKS4B	257629	ENSG00000175311			Anks4b (MGI:1919324)
chr16	21258521	21303062	16p13.11-p12.3	16p12.2	123740	CRYM, DFNA40	Crystallin, mu	CRYM	1428	ENSG00000103316		Deafness, autosomal dominant 40, 616357 (3), Autosomal dominant	Crym (MGI:102675)
chr16	21402129	21425378	16p12.2	16p12.2	619984	NPIPB3, KIAA0220L	Nuclear pore complex-interacting protein family, member B3	NPIPB3	23117				
chr16	21597208	21657471	16p12.2	16p12.2	609388	METTL9, DREV	Methyltransferase-like 9	METTL9	51108	ENSG00000197006			Mettl9 (MGI:1914862)
chr16	21639550	21652608	16p13	16p12.2	606222	IGSF6, DORA	Immunoglobulin superfamily, member 6	IGSF6	10261	ENSG00000140749			Igsf6 (MGI:1891393)
chr16	21663968	21760729	16p12.2	16p12.2	607038	OTOA, DFNB22	Otoancorin	OTOA	146183	ENSG00000155719		Deafness, autosomal recessive 22, 607039 (3), Autosomal recessive	Otoa (MGI:2149209)
chr16	21953361	21983660	16p12	16p12.2	191329	UQCRC2, MC3DN5	Ubiquinol-cytochrome c reductase core protein II	UQCRC2	7385	ENSG00000140740		Mitochondrial complex III deficiency, nuclear type 5, 615160 (3), Autosomal recessive	Uqcrc2 (MGI:1914253)
chr16	22092541	22156964	16p12.2	16p12.2	621113	VWA3A	von Willebrand factor A domain-containing protein 3A	VWA3A	146177	ENSG00000175267			
chr16	22206278	22288738	Chr.16	16p12.2	606968	EEF2K	Elongation factor 2 kinase	EEF2K	29904	ENSG00000103319			Eef2k (MGI:1195261)
chr16	22297409	22335096	16p12.2	16p12.2	617815	POLR3E, SIN, KIAA1452	Polymerase III, RNA, subunit E	POLR3E	55718	ENSG00000058600			Polr3e (MGI:1349452)
chr16	22345936	22374619	16p13.1-p12	16p12.2	117340	CDR2	Cerebellar degeneration-related antigen-2, 62kD	CDR2	1039	ENSG00000140743			Cdr2 (MGI:1100885)
chr16	22814162	22916338	16p12	16p12.2	604056	HS3ST2, 30ST2	Heparan sulfate-glucosamine 3-sulfotransferase 2	HS3ST2	9956	ENSG00000122254			Hs3st2 (MGI:1333802)
chr16	23061406	23149452	16p12.2	16p12.2	619536	USP31, KIAA1203	Ubiquitin-specific peptidase 31	USP31	57478	ENSG00000103404			Usp31 (MGI:1923429)
chr16	23182745	23216883	16p13-p12	16p12.2	600761	SCNN1G, PHA1B3, BESC3, LDLS2	Sodium channel, epithelial 1, subunit gamma	SCNN1G	6340	ENSG00000166828	same 400kb fragment as SCNN1B	Bronchiectasis with or without elevated sweat chloride 3, 613071 (3), Autosomal dominant; Pseudohypoaldosteronism, type IB3, autosomal recessive, 620126 (3), Autosomal recessive; Liddle syndrome 2, 618114 (3), Autosomal dominant	Scnn1g (MGI:104695)
chr16	23278231	23381294	16p13-p12	16p12.2	600760	SCNN1B, BESC1, LIDLS1, PHA1B2	Sodium channel, epithelial 1, subunit beta	SCNN1B	6338	ENSG00000168447		Bronchiectasis with or without elevated sweat chloride 1, 211400 (3), Autosomal dominant; Pseudohypoaldosteronism, type IB2, autosomal recessive, 620125 (3), Autosomal recessive; Liddle syndrome 1, 177200 (3), Autosomal dominant	Scnn1b (MGI:104696)
chr16	23388493	23453189	16p	16p12.2	606978	COG7, CDG2E	Component of oligomeric golgi complex 7	COG7	91949	ENSG00000168434		Congenital disorder of glycosylation, type IIe, 608779 (3), Autosomal recessive	Cog7 (MGI:2685013)
chr16	23463542	23524359	16p12.2	16p12.2	606005	GGA2, VEAR	Golgi-associated, gamma-adaptin ear-containing, ARF-binding protein 2	GGA2	23062	ENSG00000103365			Gga2 (MGI:1921355)
chr16	23520754	23557375	16p13.1-p11.2	16p12.2	612799	EARS2, KIAA1970, COXPD12	Glutamyl-tRNA synthetase 2	EARS2	124454	ENSG00000103356		Combined oxidative phosphorylation deficiency 12, 614924 (3), Autosomal recessive	Ears2 (MGI:1914667)
chr16	23557727	23574389	16p12.2	16p12.2	621059	UBFD1	Ubiquitin family domain-containing protein 1	UBFD1	56061	ENSG00000103353			Ubfd1 (MGI:107301)
chr16	23581014	23596316	16p12.3-p12.1	16p12.2	603836	NDUFAB1	NADH-ubiquinone oxidoreductase subunit AB1	NDUFAB1	4706	ENSG00000004779			Ndufab1,Ndufab1-ps (MGI:1917566,MGI:4936891)
chr16	23603165	23641310	16p12	16p12.2	610355	PALB2, FANCN, PNCA3, BROVCA5	Partner and localizer of BRCA2	PALB2	79728	ENSG00000083093		{Breast-ovarian cancer, familial, susceptibility to, 5}, 620442 (3), Autosomal dominant; {Pancreatic cancer, susceptibility to, 3}, 613348 (3), Autosomal dominant; Fanconi anemia, complementation group N, 610832 (3), Autosomal recessive	Palb2 (MGI:3040695)
chr16	23641466	23677472	16p12.2	16p12.2	612962	DCTN5, p25	Dynactin 5	DCTN5	84516	ENSG00000166847			Dctn5 (MGI:1891689)
chr16	23678889	23690367	16p12.2	16p12.2	602098	PLK1, STPK13	Polo-like kinase 1	PLK1	5347	ENSG00000166851			Plk1 (MGI:97621)
chr16	23690310	23713222	16p12.2	16p12.2	604034	ERN2	Endoplasmic reticulum-to-nucleus signaling 2	ERN2	10595	ENSG00000134398			Ern2 (MGI:1349436)
chr16	23835983	24220611	16p11.2	16p12.2-p12.1	176970	PRKCB1, PKCB	Protein kinase C, beta 1 polypeptide	PRKCB	5579	ENSG00000166501			Prkcb (MGI:97596)
chr16	24200001	35300000	16p12.1-p11.2		157700	MMVP1, MVP, PMV	Mitral valve prolapse, myxomatous 1		50951			Mitral valve prolapse, myxomatous 1, 157700 (2), Autosomal dominant	
chr16	24256335	24362412	16p13.1-p12	16p12.1	606403	CACNG3	Calcium channel, voltage-dependent, gamma-3 subunit	CACNG3	10368	ENSG00000006116			Cacng3 (MGI:1859165)
chr16	24539566	24572863	16p12-p11.2	16p12.1	600938	RBBP6	Retinoblastoma-binding protein-6	RBBP6	5930	ENSG00000122257			Rbbp6 (MGI:894835)
chr16	24610205	24826218	16p12	16p12.1	610739	TNRC6A, GW182, KIAA1460, FAME6	Trinucleotide repeat-containing gene 6A	TNRC6A	27327	ENSG00000090905	mutation identified in 1 FAME6 family	?Epilepsy, familial adult myoclonic, 6, 618074 (3), Autosomal dominant	Tnrc6a (MGI:2385292)
chr16	24845963	24911626	16p12.1	16p12.1	610238	SLC5A11, KST1, SGLT6, SMIT2	Solute carrier family 5 (sodium/glucose cotransporter), member 11	SLC5A11	115584	ENSG00000158865			Slc5a11 (MGI:1919316)
chr16	24919389	25015369	16p12.2	16p12.1	608293	ARHGAP17, RICH1	RHO GTPase-activating protein 17	ARHGAP17	55114	ENSG00000140750			Arhgap17 (MGI:1917747)
chr16	25111742	25178228	16p12.3-p12.1	16p12.1	610286	LCMT1	Leucine carboxyl methyltransferase 1	LCMT1	51451	ENSG00000205629			Lcmt1 (MGI:1353593)
chr16	25216947	25228932	16p12-p11.2	16p12.1	603750	AQP8	Aquaporin 8	AQP8	343	ENSG00000103375			Aqp8 (MGI:1195271)
chr16	25691959	26137685	16p11.2	16p12.1	604059	HS3ST4, 30ST4	Heparan sulfate-glucosamine 3-sulfotransferase 4	HS3ST4	9951	ENSG00000182601			Hs3st4 (MGI:1333792)
chr16	27203526	27221768	16p12.1	16p12.1	611917	KDM8, JMJD5	Lysine demethylase 8	KDM8	79831	ENSG00000155666			Kdm8 (MGI:1924285)
chr16	27224994	27268772	16p12.1	16p12.1	617263	NSMCE1, NSE1	NSE1 homolog, SMC5-SMC6 complex component	NSMCE1	197370	ENSG00000169189			Nsmce1 (MGI:1914961)
chr16	27313756	27364778	16p12.1-p11.2	16p12.1	147781	IL4R, IL4RA	Interleukin-4 receptor	IL4R	3566	ENSG00000077238			Il4ra (MGI:105367)
chr16	27402174	27452042	16p11	16p12.1	605383	IL21R, IMD56	Interleukin 21 receptor	IL21R	50615	ENSG00000103522	fusion partner with BCL6	Immunodeficiency 56, 615207 (3), Autosomal recessive	Il21r (MGI:1890475)
chr16	27460613	27549913	16p12.1	16p12.1	603246	GTF3C1	General transcription factor 3C, polypeptide 1	GTF3C1	2975	ENSG00000077235			Gtf3c1 (MGI:107887)
chr16	27550144	27780344	16p12.1	16p12.1	616650	KATNIP, KIAA0556	Katanin-interacting protein	KATNIP	23247	ENSG00000047578		Joubert syndrome 26, 616784 (3), Autosomal recessive	Katnip (MGI:2442760)
chr16	27787528	28063714	16p12.1	16p12.1	617161	GSG1L	GSG1-like protein	GSG1L	146395	ENSG00000169181			Gsg1l (MGI:2685483)
chr16	28097976	28211965	16p12.1	16p12.1	608411	XPO6, EXP6, KIAA0370	Exportin 6	XPO6	23214	ENSG00000169180			Xpo6 (MGI:2429950)
chr16	28258681	28323849	16p12.1	16p12.1	620212	SBK1	SH3 domain-binding kinase 1	SBK1	388228	ENSG00000188322			Sbk1 (MGI:2135937)
chr16	28466653	28492082	16p12.1	16p12.1	607042	CLN3, BTS	CLN3 lysosomal/endosomal transmembrane protein, Battenin	CLN3	1201	ENSG00000188603		Ceroid lipofuscinosis, neuronal, 3, 204200 (3), Autosomal recessive	Cln3 (MGI:107537)
chr16	28494643	28498964	16p11.2	16p12.1	605220	APOBR, APOB48R	Apolipoprotein B receptor	APOBR	55911	ENSG00000184730			Apobr (MGI:2176230)
chr16	28499362	28506834	16p11	16p12.1-p11.2	608273	IL27, IL30	Interleukin 27	IL27	246778	ENSG00000197272			Il27 (MGI:2384409)
chr16	28500001	35300000	16p11.2		613444	BMIQ16, DEL16p.11.2, C16DELp11.2	Chromosome 16p11.2 deletion syndrome, 220kb					Chromosome 16p11.2 deletion syndrome, 220kb, 613444 (4), Autosomal dominant, Isolated cases; [Body mass index QTL16], 613444 (4), Autosomal dominant, Isolated cases	
chr16	28500001	35300000	16p11.2		611913	DEL16p11.2, C16DELp11.2, AUTS14A	Chromosome 16p11.2 deletion syndrome, 593kb					{Autism susceptibility 14A}, 611913 (2), Autosomal dominant; Chromosome 16p11.2 deletion syndrome, 593kb, 611913 (4), Autosomal dominant	
chr16	28500001	35300000	16p11.2		614671	DUP16p11.2, C16DUPp11.2, AUTS14B	Chromosome 16p11.2 duplication syndrome					Chromosome 16p11.2 duplication syndrome, 614671 (4), Autosomal dominant, Isolated cases; {Autism, susceptibility to, 14B}, 614671 (2), Autosomal dominant, Isolated cases	
chr16	28500001	36800000	16p11		615835	INV16p11	Chromosome 16p11 inversion (0.45Mb)					Chromosome 16p11 inversion, 615835 (4)	
chr16	28532708	28538974	16p11.2	16p11.2	614812	NUPR1, COM1, p8	Nuclear protein, transcriptional regulator, 1	NUPR1	26471	ENSG00000176046			Nupr1 (MGI:1891834)
chr16	28553920	28591790	16p11.2	16p11.2	613374	CCDC101, STAF36	Coiled-coil domain-containing protein 101	SGF29	112869	ENSG00000176476			Sgf29 (MGI:1922815)
chr16	28591943	28597050	16p12.1-p11.2	16p11.2	601292	SULT1A2, STP2	Sulfotransferase family 1A, phenol-preferring, member 2	SULT1A2	6799	ENSG00000197165	45kb from STP1		Sult1a1 (MGI:102896)
chr16	28605258	28623375	16p12.1-p11.2	16p11.2	171150	SULT1A1, STP1, STP, PST	Sulfotransferase family 1A, phenol-preferring, member 1	SULT1A1	6817	ENSG00000196502			Sult1a1 (MGI:102896)
chr16	28688558	28735730	16p11.2	16p11.2	603916	EIF3C, EIF3S8	Eukaryotic translation initiation factor 3, subunit C	EIF3C	8663	ENSG00000184110			Eif3c (MGI:1926966)
chr16	28822999	28837232	16p11	16p11.2	607931	ATXN2L, A2D	Ataxin 2-like	ATXN2L	11273	ENSG00000168488	pseudogene at 7p21		Atxn2l (MGI:2446242)
chr16	28842411	28846348	16p11.2	16p11.2	602389	TUFM, EFTU, COXPD4	Tu translation elongation factor, mitochondrial	TUFM	7284	ENSG00000178952	pseudogene on chr.17	Combined oxidative phosphorylation deficiency 4, 610678 (3), Autosomal recessive	Tufm (MGI:1923686)
chr16	28846606	28874205	16p11.2	16p11.2	608937	SH2B1, SH2B, KIAA1299	SH2B adaptor protein 1	SH2B1	25970	ENSG00000178188			Sh2b1 (MGI:1201407)
chr16	28878488	28904466	16p12	16p11.2	108730	ATP2A1, SERCA1	ATPase, Ca++ transporting, fast-twitch, 1	ATP2A1	487	ENSG00000196296		Brody myopathy, 601003 (3), Autosomal recessive	Atp2a1 (MGI:105058)
chr16	28904421	28925238	16p11.2	16p11.2	611869	RABEP2	RAB GTPase-binding effector protein 2	RABEP2	79874	ENSG00000177548			Rabep2 (MGI:1917564)
chr16	28931971	28939342	16p11.2	16p11.2	107265	CD19, CVID3	CD19 antigen	CD19	930	ENSG00000177455		Immunodeficiency, common variable, 3, 613493 (3), Autosomal recessive	Cd19 (MGI:88319)
chr16	28950937	28967092	16p11.2	16p11.2	614525	NFATC2IP, NIP45	NFATC2-interacting protein	NFATC2IP	84901	ENSG00000176953			Nfatc2ip (MGI:1329015)
chr16	28974778	28984765	16p11.2	16p11.2	612583	SPNS1, SPIN1	Spinster, Drosophila, homolog of, 1	SPNS1	83985	ENSG00000169682			Spns1 (MGI:1920908)
chr16	28984803	28990784	16p11.2	16p11.2	602354	LAT, IMD52	Linker for activation of T cells	LAT	27040	ENSG00000213658		Immunodeficiency 52, 617514 (3), Autosomal recessive	Lat (MGI:1342293)
chr16	29453588	29454964	16p11.2	16p11.2	613182	BOLA2	bolA family member 2	BOLA2	552900	ENSG00000183336			Bola2 (MGI:1913412)
chr16	29454533	29458220	16p11.2	16p11.2	615823	SLX1B, GIYD2	SLX1 homolog B, structure-specific endonuclease subunit	SLX1B	79008	ENSG00000181625			Slx1b (MGI:1915220)
chr16	29459913	29464966	16p11.2	16p11.2	615819	SULT1A4	Sulfotransferase family 1A, cytosolic, phenol-preferring, member 4	SULT1A4	445329	ENSG00000213648			Sult1a1 (MGI:102896)
chr16	29662963	29670876	16p11.2	16p11.2	182160	SPN, LSN, CD43	Sialophorin (leukosialin)	SPN	6693	ENSG00000197471			Spn (MGI:98384)
chr16	29679008	29698699	16p11.2	16p11.2	606248	QPRT	Quinolinate phosphoribosyltransferase	QPRT	23475	ENSG00000103485			Qprt (MGI:1914625)
chr16	29778256	29782973	16p11.2	16p11.2	617311	ZG16, ZG16A, JCLN1	Zymogen granule protein, 16-kD	ZG16	653808	ENSG00000174992			Zg16 (MGI:1916286)
chr16	29790751	29805385	16p11.2	16p11.2	603213	KIF22, KNSL4, KID, OBP, SEMDJL2	Kinesin family member 22	KIF22	3835	ENSG00000079616		Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3), Autosomal dominant	Kif22 (MGI:109233)
chr16	29806124	29811164	16p11.2	16p11.2	600999	MAZ, ZF87, PUR1	MYC-associated zinc finger protein	MAZ	4150	ENSG00000103495			Maz (MGI:1338823)
chr16	29812193	29815881	16p11.2	16p11.2	614386	PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA	Proline-rich transmembrane protein 2	PRRT2	112476	ENSG00000167371		Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3), Autosomal dominant; Seizures, benign familial infantile, 2, 605751 (3), Autosomal dominant; Episodic kinesigenic dyskinesia 1, 128200 (3), Autosomal dominant	Prrt2 (MGI:1916267)
chr16	29816152	29822489	16p11.2	16p11.2	612033	PAGR1, C16orf53, PA1	PAXIP1-associated glutamate-rich protein 1	PAGR1	79447	ENSG00000280789			Pagr1a (MGI:1914528)
chr16	29820394	29848039	16p13.1-p11.2	16p11.2	605088	MVP, LRP	Major vault protein	MVP	9961	ENSG00000013364			Mvp (MGI:1925638)
chr16	29858357	29863226	16p11.2	16p11.2	605893	CDIPT, PIS1	CDP-diacylglycerol-inositol 3-phosphatidyltransferase	CDIPT	10423	ENSG00000103502			Cdipt (MGI:105491)
chr16	29871159	29899550	16p11.2	16p11.2	616667	SEZ6L2, BSRPA	SEZ6-like protein 2	SEZ6L2	26470	ENSG00000174938			Sez6l2 (MGI:2385295)
chr16	29906339	29926226	16p11.2	16p11.2	608947	KCTD13, POLDIP1, FKSG86	Potassium channel tetramerization domain-containing 13	KCTD13	253980	ENSG00000174943			Kctd13 (MGI:1923739)
chr16	29962079	29973048	16p11.2	16p11.2	620290	TMEM219, IGFBP3R	Transmembrane protein 219	TMEM219	124446	ENSG00000149932			Tmem219 (MGI:1915992)
chr16	29973868	29992261	16p13.1-p12	16p11.2	613199	TAOK2, TAO2, KIAA0881, PSK, PSK1	Tao kinase 2	TAOK2	9344	ENSG00000149930			Taok2 (MGI:1915919)
chr16	29992321	29996096	16p11.2	16p11.2	603365	HIRIP3	HIRA-interacting protein 3	HIRIP3	8479	ENSG00000149929			Hirip3 (MGI:2142364)
chr16	30005514	30023228	16p11.2	16p11.2	604567	DOC2A	Double C2-like domain-containing protein, alpha	DOC2A	8448	ENSG00000149927			Doc2a (MGI:109446)
chr16	30023198	30027736	16p11.2	16p11.2	618911	C16orf92, FIMP	Chromosome 16 open reading frame 92	C16orf92	146378	ENSG00000167194			4930451I11Rik (MGI:1925368)
chr16	30024427	30053040	16p11.2	16p11.2	615175	TLCD3B, FAM57B, CORD22	TLC domain-containing protein 3B	TLCD3B	83723	ENSG00000149926		Cone-rod dystrophy 22, 619531 (3), Autosomal recessive	Tlcd3b (MGI:1916202)
chr16	30064279	30070420	16p11.2	16p11.2	103850	ALDOA, GSD12	Aldolase A, fructose-bisphosphatase	ALDOA	226	ENSG00000149925	pseudogenes on 3 and 10	Glycogen storage disease XII, 611881 (3), Autosomal recessive	Aldoa (MGI:87994)
chr16	30075994	30085376	16p12-p11	16p11.2	602035	PPP4C, PP4, PPX	Protein phosphatase 4, catalytic subunit	PPP4C	5531	ENSG00000149923			Ppp4c (MGI:1891763)
chr16	30085793	30091924	16p11.2	16p11.2	602427	TBX6, SCDO5	T-box 6	TBX6	6911	ENSG00000149922		Spondylocostal dysostosis 5, 122600 (3), Autosomal recessive, Autosomal dominant	Tbx6 (MGI:102539)
chr16	30092314	30096213	16p11.2	16p11.2	609724	YPEL3	Yippee-like 3	YPEL3	83719	ENSG00000090238			Ypel3 (MGI:1913340)
chr16	30104810	30113537	16p11.2	16p11.2	616318	GDPD3, GDE7	Glycerophosphodiester phosphodiesterase domain-containing protein 3	GDPD3	79153	ENSG00000102886			Gdpd3 (MGI:1915866)
chr16	30114105	30123220	16p11.2	16p11.2	601795	MAPK3, PRKM3, ERK1	Mitogen-activated protein kinase 3	MAPK3	5595	ENSG00000102882			Mapk3 (MGI:1346859)
chr16	30183602	30189076	16p11.2	16p11.2	605000	CORO1A, TACO, CLIPINA, IMD8	Coronin 1A	CORO1A	11151	ENSG00000102879		Immunodeficiency 8, 615401 (3), Autosomal recessive	Coro1a (MGI:1345961)
chr16	30193843	30197566	16p11.2	16p11.2	615822	SLX1A, GIYD1	SLX1 homolog A, structure-specific endonuclease subunit	SLX1A	548593	ENSG00000132207			Slx1b (MGI:1915220)
chr16	30199255	30204310	16p11.2	16p11.2	600641	SULT1A3, STM	Sulfotransferase family 1A, phenol-preferring, member 3	SULT1A3	6818	ENSG00000261052			Sult1a1 (MGI:102896)
chr16	30350773	30355308	16p11.2	16p11.2	604470	CD2BP2	CD2 antigen-binding protein 2	CD2BP2	10421	ENSG00000169217			Cd2bp2 (MGI:1917483)
chr16	30357102	30370494	16p11.2	16p11.2	613620	TBC1D10B	TBC1 domain family, member 10B	TBC1D10B	26000	ENSG00000169221			Tbc1d10b (MGI:1915699)
chr16	30370934	30377991	16p11.2	16p11.2	617378	MYL11, MLC2B, MRLC2, MYLPF, DA1C	Myosin light chain 11	MYL11	29895	ENSG00000180209		Arthrogryposis, distal, type 1C, 619110 (3), Autosomal recessive, Autosomal dominant	Mylpf (MGI:97273)
chr16	30378135	30382815	16p11.2	16p11.2	612897	SEPT1, DIFF6	Septin 1	SEPTIN1	1731	ENSG00000180096			Septin1 (MGI:1858916)
chr16	30423615	30430030	16p11.2	16p11.2	615840	DCTPP1	dCTP pyrophosphatase 1	DCTPP1	79077	ENSG00000179958			Dctpp1 (MGI:1913672)
chr16	30443631	30445874	16p11.2	16p11.2	606218	SEPHS2, SPS2	Selenophosphate synthetase 2	SEPHS2	22928	ENSG00000179918			Sephs2 (MGI:108388)
chr16	30472742	30523185	16p11.2	16p11.2	153370	ITGAL, CD11A, LFA1A	Integrin, alpha-L (antigen CD11A (p180), lymphocyte function-associated antigen-1, alpha polypeptide)	ITGAL	3683	ENSG00000005844			Itgal (MGI:96606)
chr16	30524004	30532477	16p11.2	16p11.2	618032	ZNF768	Zinc finger protein 768	ZNF768	79724	ENSG00000169957			Zfp768 (MGI:2384582)
chr16	30553764	30558374	16p11.2	16p11.2	619524	ZNF764	Zinc finger protein 764	ZNF764	92595	ENSG00000169951			Zfp747,Zfp747l1,Zfp764,Zfp764l1 (MGI:1926171,MGI:2141981,MGI:2443580,MGI:2443581)
chr16	30602558	30610775	16p11.2	16p11.2	618033	ZNF689, TIPUH1	Zinc finger protein 689	ZNF689	115509	ENSG00000156853			Zfp689 (MGI:1918381)
chr16	30650778	30656413	16p11.2	16p11.2	617423	PRR14	Proline-rich protein 14	PRR14	78994	ENSG00000156858			Prr14 (MGI:2384565)
chr16	30658431	30670810	16p11.2	16p11.2	608601	FBRS, FBS1	Fibrosin	FBRS	64319	ENSG00000156860			Fbrs (MGI:104648)
chr16	30699171	30741409	16p11.2	16p11.2	611421	SRCAP, SWR1, KIAA0309, FLHS, DEHMBA	SNF2-related CBP activator protein	SRCAP	10847	ENSG00000080603		Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, 619595 (3), Autosomal dominant; Floating-Harbor syndrome, 136140 (3), Autosomal dominant	Srcap (MGI:2444036)
chr16	30748425	30761176	16p12.1-p11.2	16p11.2	172471	PHKG2, GSD9C	Phosphorylase kinase, gamma 2 (testis/liver)	PHKG2	5261	ENSG00000156873		Glycogen storage disease IXc, 613027 (3), Autosomal recessive	Phkg2 (MGI:1916211)
chr16	30757423	30762062	16p11.2	16p11.2	618318	CFAP119, CCDC189, C16orf93	Cilia- and flagella-associated protein 119	CFAP119	90835	ENSG00000196118			Cfap119 (MGI:2685012)
chr16	30761612	30776307	16p11.2	16p11.2	607700	RNF40, BRE1B, RBP95, KIAA0661	RING finger protein 40	RNF40	9810	ENSG00000103549			Rnf40 (MGI:2142048)
chr16	30778456	30787205	16p11.2	16p11.2	619587	ZNF629, KIAA0326	Zinc finger protein 629	ZNF629	23361	ENSG00000102870			Zfp629 (MGI:2444524)
chr16	30833626	30894077	16p11	16p11.2	605847	BCL7C	BAF chromatin remodeling complex subunit BCL7C	BCL7C	9274	ENSG00000099385			Bcl7c (MGI:1332237)
chr16	30895846	30903560	16p11.2-p11.1	16p11.2	600435	CTF1, CT1	Cardiotrophin 1	CTF1	1489	ENSG00000150281			Ctf1 (MGI:105115)
chr16	30922851	30948783	16p11.2	16p11.2	609085	FBXL19, FBL19	F-box and leucine-rich repeat protein 19	FBXL19	54620	ENSG00000099364			Fbxl19 (MGI:3039600)
chr16	30949068	30954938	16p11.2	16p11.2	610930	ORAI3, TMEM142C	ORAI calcium release-activated calcium modulator 3	ORAI3	93129	ENSG00000175938			Orai3 (MGI:3039586)
chr16	30957754	30984664	16p11.2	16p11.2	611052	SETD1A, SET1A, SET1, KIAA0339, EPEO2, NEDSID	SET domain-containing protein 1A	SETD1A	9739	ENSG00000099381		Epilepsy, early-onset, 2, with or without developmental delay, 618832 (3), Autosomal dominant; Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056 (3), Autosomal dominant	Setd1a (MGI:2446244)
chr16	30985207	30989147	16p12-p11.2	16p11.2	607764	HSD3B7, CBAS1	3-beta-hydroxy-delta-5-C27-steroid oxidoreductase	HSD3B7	80270	ENSG00000099377		Bile acid synthesis defect, congenital, 1, 607765 (3), Autosomal recessive	Hsd3b7 (MGI:2141879)
chr16	30989256	31010638	16p11.2	16p11.2	601485	STX1B, GEFSP9	Syntaxin 1B	STX1B	112755	ENSG00000099365		Generalized epilepsy with febrile seizures plus, type 9, 616172 (3), Autosomal dominant	Stx1b (MGI:1930705)
chr16	31033095	31040168	16p11.2	16p11.2	186591	STX4, STX4A, DFNB123	Syntaxin 4	STX4	6810	ENSG00000103496	mutation identified in 1 DFNB123 family	?Deafness, autosomal recessive 123, 620745 (3), Autosomal recessive	Stx4a (MGI:893577)
chr16	31060847	31074240	16p11.2	16p11.2	617103	ZNF668, NEDGEF	Zinc finger protein 668	ZNF668	79759	ENSG00000167394		Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, 620194 (3), Autosomal recessive	Zfp668 (MGI:2442943)
chr16	31072687	31084196	16p11.2	16p11.2	619299	ZNF646	Zinc finger protein	ZNF646	9726	ENSG00000167395			Zfp646 (MGI:3665412)
chr16	31083437	31088943	16p11.2	16p11.2	610561	PRSS53, POL3S	Protease, serine, 53	PRSS53	339105	ENSG00000151006			Prss53 (MGI:2652890)
chr16	31090854	31094797	16p11.2	16p11.2	608547	VKORC1, VKOR, VKCFD2, FLJ00289	Vitamin K epoxide reductase complex, subunit 1	VKORC1	79001	ENSG00000167397		Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3), Autosomal recessive; Warfarin resistance, 122700 (3), Autosomal dominant	Vkorc1 (MGI:106442)
chr16	31108386	31117640	16p11.2	16p11.2	614901	BCKDK, BDK, BCKDKD	Branched-chain alpha-keto acid dehydrogenase kinase	BCKDK	10295	ENSG00000103507		Branched-chain keto acid dehydrogenase kinase deficiency, 614923 (3), Autosomal recessive	Bckdk (MGI:1276121)
chr16	31117664	31131393	16p11.2	16p11.2	609912	KAT8, MYST1, MOF, LIGOWS	K(lysine) acetyltransferase 8	KAT8	84148	ENSG00000103510		Li-Ghorgani-Weisz-Hubshman syndrome, 618974 (3), Autosomal dominant	Kat8 (MGI:1915023)
chr16	31131433	31135727	16p11.2	16p11.2	600823	PRSS8	Protease, serine, 8 (prostasin)	PRSS8	5652	ENSG00000052344			Prss8 (MGI:1923810)
chr16	31138926	31150066	16p11.2	16p11.2	610560	PRSS36	Protease, serine, 36	PRSS36	146547	ENSG00000178226			Prss36 (MGI:1924863)
chr16	31180110	31194871	16p11.2	16p11.2	137070	FUS, TLS, ALS6, ETM4	FUS RNA-binding protein	FUS	2521	ENSG00000089280	fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and ATF1 in angiomatoid fibrous histiocytoma	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3); Essential tremor, hereditary, 4, 614782 (3), Autosomal dominant	Fus (MGI:1353633)
chr16	31201486	31202760	16p12-p11.2	16p11.2	606838	PYCARD, TMS1, ASC	PYD and CARD domain-containing protein (target of methylation-induced silencing 1)	PYCARD	29108	ENSG00000103490			Pycard (MGI:1931465)
chr16	31214119	31231537	16p11.2	16p11.2	613288	TRIM72, MG53	Tripartite motif-containing protein 72	TRIM72	493829	ENSG00000177238			Trim72 (MGI:3612190)
chr16	31215962	31217135	16p12.1	16p11.2	615700	PYDC1, POP1, PYC1, ASC2	Pyrin domain-containing protein 1	PYDC1	260434	ENSG00000169900			
chr16	31259975	31332877	16p11.2	16p11.2	120980	ITGAM, CR3A, CD11B, MAC1A, SLEB6	Integrin, alpha-M (complement component receptor-3, alpha; antigen CD11B (p170); macrophage antigen, alpha polypeptide)	ITGAM	3684	ENSG00000169896	?in same restriction fragment as LFA1A		Itgam (MGI:96607)
chr16	31355176	31382999	16p11.2	16p11.2	151510	ITGAX, CD11C	Integrin, alpha-X (antigen CD11C (p150), alpha polypeptide)	ITGAX	3687	ENSG00000140678			Itgax (MGI:96609)
chr16	31393335	31426505	16p11.2	16p11.2	602453	ITGAD, CD11D	Integrin, alpha D	ITGAD	3681	ENSG00000156886			Itgad (MGI:3578624)
chr16	31427731	31428360	16p11.2	16p11.2	602009	COX6A2, MC4DN18	Cytochrome c oxidase, subunit 6A2	COX6A2	1339	ENSG00000156885		Mitochondrial complex IV deficiency, nuclear type 18, 619062 (3), Autosomal recessive	Cox6a2 (MGI:104649)
chr16	31458304	31467167	16p11.2	16p11.2	615549	ARMC5, AIMAH2	Armadillo repeat-containing protein 5	ARMC5	79798	ENSG00000140691		{ACTH-independent macronodular adrenal hyperplasia 2}, 615954 (3), Autosomal dominant	Armc5 (MGI:2384586)
chr16	31472152	31477960	16p11.2	16p11.2	602353	TGFB1I1, ARA55, HIC5	Transforming growth factor, beta-1-induced 1	TGFB1I1	7041	ENSG00000140682			Tgfb1i1 (MGI:102784)
chr16	31483123	31490769	16p11.2	16p11.2	182381	SLC5A2, SGLT2	Solute carrier family 5 (sodium/glucose cotransporter), member 2	SLC5A2	6524	ENSG00000140675		Renal glucosuria, 233100 (3), Autosomal recessive, Autosomal dominant	Slc5a2 (MGI:2181411)
chr16	31527900	31528803	16p11.2	16p11.2	605821	AHSP, ERAF, EDRF	Alpha-hemoglobin stabilizing protein	AHSP	51327	ENSG00000169877			Ahsp (MGI:2158492)
chr16	31873807	31917357	Chr.16	16p11.2	604752	ZNF267, HZF2	Zinc finger protein-167	ZNF267	10308	ENSG00000185947			Zfp267 (MGI:1098769)
chr16	32673530	32676165	16p13	16p11.2	617482	TP53TG3	TP53 target gene 3	TP53TG3	24150	ENSG00000183632			
chr16	36800001	74100000	16q11-q22		610753	AA2	Alopecia areata 2		100034703		max lod at D16S415	Alopecia areata 2, 610753 (2), Autosomal recessive, Autosomal dominant	
chr16	36800001	74100000	16q11.1-q22		126900	DUPC1	Dupuytren contracture 1		780895		max lod at D16S415	Dupuytren contracture 1, 126900 (2), Autosomal dominant	
chr16	36800001	90338345	16q		610707	PSORS8	Psoriasis susceptibility 8		140454		proximal to D16S3034	{Psoriasis susceptibility 8}, 610707 (2)	
chr16	36800001	90338345	16q		606711	SLI1	Specific language impairment QTL, 1		171013			Specific language impairment QTL, 1, 606711 (2), Multifactorial	
chr16	36800001	90338345	16q		194090	WT3	Wilms tumor-3		8136		loss of heterozygosity	Wilms tumor, type 3, 194090 (2), Autosomal dominant	
chr16	46578591	46621379	16q11.2	16q11.2	611027	SHCBP1, PAL	SHC-binding and spindle-associated protein 1	SHCBP1	79801	ENSG00000171241			Shcbp1 (MGI:1338802)
chr16	46656132	46689178	16q11.2	16q11.2	601501	VPS35, MEM3, PARK17	VPS35 retromer complex component	VPS35	55737	ENSG00000069329		{Parkinson disease 17}, 614203 (3), Autosomal dominant	Vps35 (MGI:1890467)
chr16	46689659	46698394	16q12	16q11.2	607213	ORC6, ORC6L	Origin recognition complex, subunit 6	ORC6	23594	ENSG00000091651		Meier-Gorlin syndrome 3, 613803 (3), Autosomal recessive	Orc6 (MGI:1929285)
chr16	46702282	46763246	16q11.2	16q11.2	612147	MYLK3, MLCK	Myosin light chain kinase 3	MYLK3	91807	ENSG00000140795			Mylk3 (MGI:2443063)
chr16	46884362	46931289	16q12.1	16q11.2	138210	GPT2, ALT2, NEDSPM	Glutamate pyruvate transaminase 2	GPT2	84706	ENSG00000166123		Neurodevelopmental disorder with microcephaly and spastic paraplegia, 616281 (3), Autosomal recessive	Gpt2 (MGI:1915391)
chr16	46955362	46973674	16q12.1	16q11.2	611322	DNAJA2, DJ3, CPR3	DNAJ/HSP40 homolog, subfamily A, member 2	DNAJA2	10294	ENSG00000069345			Dnaja2 (MGI:1931882)
chr16	47000001	56000000	16q12		619649	C16DUPq12, DUP16q12	Chromosome 16q12 duplication syndrome					Chromosome 16q12 duplication syndrome, 619649 (4), Autosomal dominant	
chr16	47000001	52600000	16q12.1		602639	STHAG2, HYD2	Tooth agenesis, selective, 2		8137			Tooth agenesis, selective, 2, 602639 (2)	
chr16	47000001	79200000	16q12.1-q23.1		614668	STUT4	Stuttering, familial persistent, 4		100909385		max lod at D16S3043	Stuttering, familial persistent, 4, 614668 (2)	
chr16	47077703	47143945	16q11	16q12.1	607974	NEOT2	Neuropilin and tolloid like 2	NETO2	81831	ENSG00000171208			Neto2 (MGI:1921763)
chr16	47154391	47461246	16q12.1	16q12.1	611803	ITFG1, TIP	Integrin-alpha FG-gap repeat-containing protein 1	ITFG1	81533	ENSG00000129636			Itfg1 (MGI:106419)
chr16	47461299	47701523	16q12-q13	16q12.1	172490	PHKB	Phosphorylase kinase, beta polypeptide	PHKB	5257	ENSG00000102893		Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3), Autosomal recessive	Phkb (MGI:97578)
chr16	48080882	48155993	16q12.1	16q12.1	607041	ABCC12, MRP9	ATP-binding cassette, subfamily C, member 12	ABCC12	94160	ENSG00000140798			Abcc12 (MGI:2441679)
chr16	48164819	48247539	16q12.1	16q12.1	607040	ABCC11, MRP8, EWWD, WW	ATP-binding cassette, subfamily C, member 11	ABCC11	85320	ENSG00000121270		[Axillary odor, variation in], 117800 (3), Autosomal dominant; [Earwax, wet/dry], 117800 (3), Autosomal dominant; [Colostrum secretion, variation in], 117800 (3), Autosomal dominant	
chr16	48244300	48363003	16q12.1	16q12.1	617774	LONP2, PLON, PSLON	LON peptidase 2, peroxisomal	LONP2	83752	ENSG00000102910			Lonp2 (MGI:1914137)
chr16	48360531	48387246	16q12	16q12.1	602212	SIAH1, BURHAS	Seven in absentia, Drosophila, homolog of, 1	SIAH1	6477	ENSG00000196470		Buratti-Harel syndrome, 619314 (3), Autosomal dominant	Siah1a,Siah1b (MGI:108063,MGI:108064)
chr16	48538726	48610180	16q12.1	16q12.1	619138	N4BP1, KIAA0615	NEDD4-binding protein 1	N4BP1	9683	ENSG00000102921			N4bp1 (MGI:2136825)
chr16	49277917	49281838	16q12.1	16q12.1	600432	CBLN1	Precerebellin 1	CBLN1	869	ENSG00000102924			Cbln1 (MGI:88281)
chr16	49487524	49859279	16q12	16q12.1	604557	ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19	Zinc finger protein 423	ZNF423	23090	ENSG00000102935		Nephronophthisis 14, 614844 (3), Autosomal recessive, Autosomal dominant; Joubert syndrome 19, 614844 (3), Autosomal recessive, Autosomal dominant	Zfp423 (MGI:1891217)
chr16	50025225	50037081	16q12.1	16q12.1	616869	CNEP1R1, NEP1R1, TMEM188	C-terminal domain nuclear envelope phosphatase 1 regulatory subunit 1	CNEP1R1	255919	ENSG00000205423			Cnep1r1 (MGI:1921981)
chr16	50065970	50107272	16q12.1	16q12.1	614951	HEATR3, SYO1, DBA21	HEAT repeat-containing protein 3	HEATR3	55027	ENSG00000155393		Diamond-Blackfan anemia 21, 620072 (3), Autosomal recessive	Heatr3 (MGI:2444491)
chr16	50152911	50235310	16q12.1	16q12.1	605540	TENT4B, PAPD5, TUT3	Terminal nucleotidyltransferase 4B	TENT4B	64282	ENSG00000121274			Tent4b (MGI:1917820)
chr16	50244699	50318135	16q12-q13	16q12.1	600385	ADCY7	Adenylate cyclase-7	ADCY7	113	ENSG00000121281			Adcy7 (MGI:102891)
chr16	50315957	50368988	16q12.1	16q12.1	618489	BRD7, BP75	Bromodomain-containing protein 7	BRD7	29117	ENSG00000166164			Brd7 (MGI:1349766)
chr16	50548396	50649249	16q12	16q12.1	607851	NKD1	NKD inhibitor of WNT signaling pathway 1	NKD1	85407	ENSG00000140807			Nkd1 (MGI:2135954)
chr16	50666300	50681312	16q12.1	16q12.1	613281	SNX20, SLIC1	Sorting nexin 20	SNX20	124460	ENSG00000167208			Snx20 (MGI:1918857)
chr16	50693606	50733075	16q12	16q12.1	605956	NOD2, CARD15, IBD1, CD, YAOS, BLAUS	Nucleotide-binding oligomerization domain protein 2	NOD2	64127	ENSG00000167207		Blau syndrome, 186580 (3), Autosomal dominant; {Yao syndrome}, 617321 (3), Multifactorial; {Inflammatory bowel disease 1, Crohn disease}, 266600 (3), Multifactorial	Nod2 (MGI:2429397)
chr16	50742086	50801935	16q12-q13	16q12.1	605018	CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS, FTDALS8	CYLD lysine-63 deubiquitinase	CYLD	1540	ENSG00000083799	mutation identified in 1 FTDALS8 family	Brooke-Spiegler syndrome, 605041 (3), Autosomal dominant; Cylindromatosis, familial, 132700 (3), Autosomal dominant; Trichoepithelioma, multiple familial, 1, 601606 (3), Autosomal dominant; ?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, 619132 (3), Autosomal dominant	Cyld (MGI:1921506)
chr16	51135982	51152334	16q12.1	16q12.1	602218	SALL1, HSAL1, TBS	Sal-like 1	SALL1	6299	ENSG00000103449		Townes-Brocks syndrome 1, 107480 (3), Autosomal dominant; Townes-Brocks branchiootorenal-like syndrome, 107480 (3), Autosomal dominant	Sall1 (MGI:1889585)
chr16	52436416	52547802	16q12.1	16q12.1	611416	TOX3, TNRC9, CAGF9	TOX high mobility group box family member 3	TOX3	27324	ENSG00000103460			Tox3 (MGI:3039593)
chr16	53054991	53327497	16q12.2	16q12.2	616936	CHD9, CREMM, PRIC320, KIAA0308	Chromodomain helicase DNA-binding protein 9	CHD9	80205	ENSG00000177200			Chd9 (MGI:1924001)
chr16	53434471	53491648	16q12.2	16q12.2	180203	RBL2, BRUWAG	RB transcriptional corepressor-like 2	RBL2	5934	ENSG00000103479		Brunet-Wagner neurodevelopmental syndrome, 619690 (3), Autosomal recessive	Rbl2 (MGI:105085)
chr16	53491040	53504412	16q12.2	16q12.2	608483	AKTIP, FTS, FT1	AKT-interacting protein	AKTIP	64400	ENSG00000166971			Aktip (MGI:3693832)
chr16	53598153	53703859	16q12.2	16q12.2	610937	RPGRIP1L, KIAA1005, JBTS7, MKS5, COACH3	RPGRIP1-like	RPGRIP1L	23322	ENSG00000103494	mutation identified in 1 COACH patient	Joubert syndrome 7, 611560 (3), Autosomal recessive; Meckel syndrome 5, 611561 (3), Autosomal recessive; ?COACH syndrome 3, 619113 (3), Autosomal recessive	Rpgrip1l (MGI:1920563)
chr16	53703963	54121941	16q12.2	16q12.2	610966	FTO, GDFD, BMIQ14	FTO alpha-ketoglutarate dependent dioxygenase	FTO	79068	ENSG00000140718		Growth retardation, developmental delay, facial dysmorphism, 612938 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ14}, 612460 (3), Autosomal recessive	Fto (MGI:1347093)
chr16	54283304	54286787	16q12.2	16q12.2	612985	IRX3, IRXB1	Iroquois homeobox protein 3	IRX3	79191	ENSG00000177508			Irx3 (MGI:1197522)
chr16	54918863	54928886	16q12.2	16q12.2	615624	CRNDE	Colorectal neoplasia differentially expressed gene, noncoding	CRNDE	643911	ENSG00000245694			
chr16	54930865	54934485	16q11.2-q13	16q12.2	606195	IRX5, HMMS	Iroquois homeobox protein 5	IRX5	10265	ENSG00000176842		Hamamy syndrome, 611174 (3), Autosomal recessive	Irx5 (MGI:1859086)
chr16	55324203	55330756	16q11.2-q13	16q12.2	606196	IRX6, IRX7	Iroquois homeobox protein 6	IRX6	79190	ENSG00000159387			Irx6 (MGI:1927642)
chr16	55478830	55506691	16q13	16q12.2	120360	MMP2, CLG4A, MONA	Matrix metalloproteinase 2 (gelatinase A, 72kD type IV collagenase)	MMP2	4313	ENSG00000087245	near MT1,2	Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3), Autosomal recessive	Mmp2 (MGI:97009)
chr16	55509072	55586666	16q12.2	16q12.2	612040	LPCAT1, AYTL1	Lysophosphatidylcholine acyltransferase 2	LPCAT2	54947	ENSG00000087253			Lpcat2 (MGI:3606214)
chr16	55566684	55567687	16q12.2	16q12.2	616767	CAPNS2, CSS2	Calpain, small subunit 2	CAPNS2	84290	ENSG00000256812			Capns2 (MGI:1916793)
chr16	55655988	55706192	16q12.2	16q12.2	163970	SLC6A2, NAT1, NET1	Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2, cocaine- and antidepressant-sensitive	SLC6A2	6530	ENSG00000103546	mutation identified in 1 ORSTI family	?Orthostatic intolerance, 604715 (3), Autosomal dominant	Slc6a2 (MGI:1270850)
chr16	55802851	55833096	16q13-q22.1	16q12.2	114835	CES1, SES1	Carboxylesterase 1 (monocyte/macrophage serine esterase 1)	CES1	1066	ENSG00000198848		Drug metabolism, altered, CES1-related, 618057 (3), Autosomal dominant	Ces1a,Ces1b,Ces1c,Ces1d,Ces1e,Ces1f,Ces1g,Ces1h (MGI:1922954,MGI:2142687,MGI:2148202,MGI:3648919,MGI:3779470,MGI:88378,MGI:95420,MGI:95432)
chr16	55846154	55956031	16q12.2	16q12.2	618678	CES5A, CAUXIN	Carboxylesterase 5A	CES5A	221223	ENSG00000159398			Ces5a (MGI:1915185)
chr16	56000001	66600000	16q13-q21		605746	ANMA	Anisomastia		80871			Anisomastia, 605746 (2)	
chr16	56000001	70800000	16q13-q22.1		611031	EKD2	Episodic kinesigenic dyskinesia 2		100124415		max lod at D16S503	Episodic kinesigenic dyskinesia 2, 611031 (2), Autosomal dominant	
chr16	56191489	56357444	16q13	16q13	139311	GNAO1, DEE17, NEDIM	Guanine nucleotide-binding protein (G protein), alpha-activating activity	GNAO1	2775	ENSG00000087258	close to MT1 in mouse	Developmental and epileptic encephalopathy 17, 615473 (3), Autosomal dominant; Neurodevelopmental disorder with involuntary movements, 617493 (3), Autosomal dominant	Gnao1 (MGI:95775)
chr16	56361452	56425545	16q21	16q13	603243	AMFR, GP78, SPG89	Autocrine motility factor receptor	AMFR	267	ENSG00000159461		Spastic paraplegia 89, autosomal recessive, 620379 (3), Autosomal recessive	Amfr (MGI:1345634)
chr16	56429133	56451332	16q12.2	16q13	604978	NUDT21, CPSF5, CFIM25	Nudix hydrolase 21	NUDT21	11051	ENSG00000167005			Nudt21 (MGI:1915469)
chr16	56451524	56479104	16q13	16q13	615857	OGFOD1	2-oxoglutarate- and iron-dependent oxygenase domain-containing protein 1	OGFOD1	55239	ENSG00000087263			Ogfod1 (MGI:2442978)
chr16	56470403	56520024	16q21	16q13	606151	BBS2, RP74	Bardet-Biedl syndrome 2	BBS2	583	ENSG00000125124		Retinitis pigmentosa 74, 616562 (3), Autosomal recessive; Bardet-Biedl syndrome 2, 615981 (3), Autosomal recessive	Bbs2 (MGI:2135267)
chr16	56565073	56568957	Chr.16	16q13	606206	MT4, MTIV	Metallothionein 4	MT4	84560	ENSG00000102891			Mt4 (MGI:99692)
chr16	56589528	56591085	16q13	16q13	139255	MT3, GIFB	Metallothionein 3 (growth inhibitory factor (neurotrophic))	MT3	4504	ENSG00000087250			Mt3 (MGI:97173)
chr16	56608584	56609497	16q13	16q13	156360	MT2A, MT2	Metallothionein 2A	MT2A	4502	ENSG00000125148	pseudogene MT2P1 on 4cen-q21		Mt2 (MGI:97172)
chr16	56617461	56618818	16q13	16q13	156358	MT1L	Metallothionein 1L, pseudogene	MT1L	4500				
chr16	56625781	56627112	16q13	16q13	156351	MT1E	Metallothionein 1E (functional)	MT1E	4493	ENSG00000169715			Mt1,Mt2 (MGI:97171,MGI:97172)
chr16	56632659	56633981	16q13	16q13	156357	MT1K	Metallothionein 1K	MT1M	4499	ENSG00000205364			Mt1 (MGI:97171)
chr16	56635739	56637086	16q13	16q13	156356	MT1JP	Metallothionein 1J, pseudogene	MT1JP	4498	ENSG00000290662			
chr16	56638666	56640087	16q13	16q13	156350	MT1A	Metallothionein 1A (functional)	MT1A	4489	ENSG00000205362	proximal to FRA16B		Mt1,Mt2 (MGI:97171,MGI:97172)
chr16	56651886	56653204	16q13	16q13	156349	MT1B	Metallothionein 1B (functional)	MT1B	4490	ENSG00000169688			Mt1,Mt2 (MGI:97171,MGI:97172)
chr16	56657959	56659303	16q13	16q13	156352	MT1F	Metallothionein 1F (functional)	MT1F	4494	ENSG00000198417			Mt1,Mt2 (MGI:97171,MGI:97172)
chr16	56666730	56668065	16q13	16q13	156353	MT1G	Metallothionein 1G	MT1G	4495	ENSG00000125144			Mt1,Mt2 (MGI:97171,MGI:97172)
chr16	56669814	56671129	16q13	16q13	156354	MT1H	Metallothionein 1H	MT1H	4496	ENSG00000205358			Mt1,Mt2 (MGI:97171,MGI:97172)
chr16	56676116	56677877	16q13	16q13	156355	MT1IP	Metallothionein 1I, pseudogene	MT1IP	644314	ENSG00000290663			
chr16	56682470	56684196	16q13	16q13	156359	MT1X	Metallothionein 1X	MT1X	4501	ENSG00000187193			Mt1,Mt2 (MGI:97171,MGI:97172)
chr16	56730129	56850286	16q13	16q13	614351	NUP93, NIC96, KIAA0095, NPHS12	Nucleoporin, 93kD	NUP93	9688	ENSG00000102900		Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive	Nup93 (MGI:1919055)
chr16	56858518	56858601	16q13	16q13	613395	MIR138-2, MIRN138-2	Micro RNA 138-2	MIR138-2	406930	ENSG00000207649			Mir138-2 (MGI:3618733)
chr16	56865207	56915850	16q13	16q13	600968	SLC12A3, NCCT, TSC	Solute carrier family 12 (sodium/potassium/chloride transporters), member 3	SLC12A3	6559	ENSG00000070915		Gitelman syndrome, 263800 (3), Autosomal recessive	Slc12a3 (MGI:108114)
chr16	56932142	56944864	16q12.2-q13	16q13	608070	HERPUD1, MIF1, HERP, KIAA0025	Homocysteine- and endoplasmic reticulum stress-inducible protein, ubiquitin-like domain-containing, 1	HERPUD1	9709	ENSG00000051108			Herpud1 (MGI:1927406)
chr16	56961950	56983845	16q21	16q13	118470	CETP, HDLCQ10	Cholesteryl ester transfer protein, plasma	CETP	1071	ENSG00000087237		[High density lipoprotein cholesterol level QTL 10], 143470 (3), Autosomal dominant; Hyperalphalipoproteinemia, 143470 (3), Autosomal dominant	
chr16	56989557	57083520	16q13	16q13	613537	NLRC5	NLR family, caspase recruitment domain-containing 5	NLRC5	84166	ENSG00000140853			Nlrc5 (MGI:3612191)
chr16	57092583	57148369	16q13	16q13	604206	CPNE2, CPN2	Copine II	CPNE2	221184	ENSG00000140848			Cpne2 (MGI:2387578)
chr16	57152466	57186116	16q13	16q13	617766	FAM192A, NIP30, C16orf94	Family with sequence similarity 192, member A	PSME3IP1	80011	ENSG00000172775			Psme3ip1 (MGI:1919637)
chr16	57186152	57240469	16q13	16q13	616585	RSPRY1, KIAA1972, SEMDFA	RING finger- and SPRY domain-containing protein 11	RSPRY1	89970	ENSG00000159579		Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3), Autosomal recessive	Rspry1 (MGI:1914860)
chr16	57245259	57253635	16q13	16q13	615407	ARL2BP, BART, RP82	ADP ribosylation factor-like GTPase 2 binding protein	ARL2BP	23568	ENSG00000102931		Retinitis pigmentosa 82 with or without situs inversus, 615434 (3), Autosomal recessive	Arl2bp (MGI:1349429)
chr16	57256097	57284672	16q13	16q13	600340	PLLP, PMLP, TM4SF11	Plasmolipin	PLLP	51090	ENSG00000102934			Pllp (MGI:1915051)
chr16	57300001	74100000	16q21-q22		616648	OPA8	Optic atrophy 8		106783499		max lod at D16S752	Optic atrophy 8, 616648 (2), Autosomal dominant	
chr16	57357909	57366189	16q13	16q21	602957	CCL22, SCYA22	Chemokine, C-C motif, ligand 22	CCL22	6367	ENSG00000102962			Ccl22 (MGI:1306779)
chr16	57372490	57385044	16q	16q21	601880	CX3CL1, SCYD1, NTT, NTN	Chemokine, C-X3-C motif, ligand 1 (fractalkine; neurotactin)	CX3CL1	6376	ENSG00000006210			Cx3cl1 (MGI:1097153)
chr16	57396093	57416063	16q13	16q21	601520	CCL17, SCYA17, TARC	Chemokine, C-C motif, ligand 17	CCL17	6361	ENSG00000102970			Ccl17 (MGI:1329039)
chr16	57428187	57447385	16q21	16q21	608943	CIAPIN1	Cytokine-induced apoptosis inhibitor 1 (anamorsin)	CIAPIN1	57019	ENSG00000005194			Ciapin1 (MGI:1922083)
chr16	57447479	57461270	16q13	16q21	612837	COQ9, C16orf49, COQ10D5	Coq9, S. cerevisiae, homolog of	COQ9	57017	ENSG00000088682		Coenzyme Q10 deficiency, primary, 5, 614654 (3), Autosomal recessive	Coq9 (MGI:1915164)
chr16	57462679	57472009	16q13-q21	16q21	180663	POLR2C	Polymerase (RNA) II (DNA directed) polypeptide C, 33kD	POLR2C	5432	ENSG00000102978			Polr2c (MGI:109299)
chr16	57471922	57487322	16q21	16q21	608333	DOK4	Docking protein 4	DOK4	55715	ENSG00000125170			Dok4 (MGI:2148865)
chr16	57529073	57577189	16q21	16q21	616965	ADGRG5, GPR114	Adhesion G protein-coupled receptor G5	ADGRG5	221188	ENSG00000159618			Adgrg5 (MGI:2685955)
chr16	57619738	57665567	16q13	16q21	604110	ADGRG1, GPR56, TM7XN1, CDCBM15A, CDCBM14B	Adhesion G protein-coupled receptor G1	ADGRG1	9289	ENSG00000205336		Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian), 615752 (3); Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal), 606854 (3), Autosomal recessive	Adgrg1 (MGI:1340051)
chr16	57665629	57689378	16q21	16q21	618441	ADGRG3, GPR97	Adhesion G protein-coupled receptor G3	ADGRG3	222487	ENSG00000182885			Adgrg3 (MGI:1859670)
chr16	57694806	57731805	4q21.1	16q21	618769	DRC7, CCDC135, CFAP50, C16orf50	Dynein regulatory complex subunit 7	DRC7	84229	ENSG00000159625			Drc7 (MGI:2685616)
chr16	57735770	57757244	16q21	16q21	602703	KATNB1, LIS6	Katanin, p80 subunit, B1	KATNB1	10300	ENSG00000140854		Lissencephaly 6, with microcephaly, 616212 (3), Autosomal recessive	Katnb1 (MGI:1921437)
chr16	57758217	57862858	16q13-q21	16q21	604535	KIFC3	Kinesin family member C3	KIFC3	3801	ENSG00000140859			Kifc3 (MGI:109202)
chr16	57882340	57971128	16q21	16q21	600724	CNGB1, CNCG3L, CNCG2, RP45	Cyclic nucleotide gated channel, beta 1	CNGB1	1258	ENSG00000070729		Retinitis pigmentosa 45, 613767 (3), Autosomal recessive	Cngb1 (MGI:2664102)
chr16	57976544	57988116	16q13	16q21	610264	TEPP	Testis-prostate-placenta-expressed protein	SPMIP8	374739	ENSG00000159648			Spmip8 (MGI:1920657)
chr16	57999603	58021618	16q13	16q21	613276	USB1, C16orf57, PN	U6 small nuclear RNA biogenesis phosphodiesterase 1	USB1	79650	ENSG00000103005		Poikiloderma with neutropenia, 604173 (3), Autosomal recessive	Usb1 (MGI:2142454)
chr16	58025754	58046901	16q13-q21	16q21	602261	MMP15	Matrix metalloproteinase 15	MMP15	4324	ENSG00000102996			Mmp15 (MGI:109320)
chr16	58113592	58129381	16q21	16q21	617906	CFAP20, BUG22, C16orf80, FSAP23	Cilia- and flagella-associated protein 20	CFAP20	29105	ENSG00000070761			Cfap20 (MGI:107428)
chr16	58157907	58198106	16p13.3-p13.2	16q21	115442	CSNK2A2	Casein kinase-2, alpha-prime polypeptide	CSNK2A2	1459	ENSG00000070770			Csnk2a2 (MGI:88547)
chr16	58249936	58283836	16q21	16q21	616070	CCDC113	Coiled-coil domain-containing protein 113	CFAP263	29070	ENSG00000103021			Ccdc113 (MGI:3606076)
chr16	58392471	58406147	16q21	16q21	610610	GINS3, PSF3	GINS complex subunit 3	GINS3	64785	ENSG00000181938			Gins3 (MGI:1926083)
chr16	58463715	58515387	16q21-q22.3	16q21	614463	NDRG4, SMAP8, KIAA1180	NMYC downstream-regulated gene 4	NDRG4	65009	ENSG00000103034			Ndrg4 (MGI:2384590)
chr16	58515479	58523842	16q21	16q21	616424	SETD6	SET domain-containing protein 6	SETD6	79918	ENSG00000103037			Setd6 (MGI:1913333)
chr16	58519951	58629826	16q21	16q21	604917	CNOT1, NOT1, HPE12, VIBOS	CCR4-NOT transcription complex, subunit 1	CNOT1	23019	ENSG00000125107		Vissers-Bodmer syndrome, 619033 (3), Autosomal dominant; Holoprosencephaly 12, with or without pancreatic agenesis, 618500 (3), Autosomal dominant	Cnot1 (MGI:2442402)
chr16	58665109	58684770	16q21	16q21	614236	SLC38A7, SNAT7	Solute carrier family 38 (amino acid transporter), member 7	SLC38A7	55238	ENSG00000103042			Slc38a7 (MGI:2679005)
chr16	58707131	58734316	16q21	16q21	138150	GOT2, DEE82	Glutamic-oxaloacetic transaminase 2, mitochondrial	GOT2	2806	ENSG00000125166	?pseudogenes on 12 and 1	Developmental and epileptic encephalopathy 82, 618721 (3), Autosomal recessive	Got2 (MGI:95792)
chr16	61647250	62036438	16q21-q22.1	16q21	603008	CDH8	Cadherin-8	CDH8	1006	ENSG00000150394			Cdh8 (MGI:107434)
chr16	64943753	65123744	16q21-q22.1	16q21	600023	CDH11, CAD11, ESWS, TBHS2	Cadherin-11 (OB-cadherin, osteoblast)	CDH11	1009	ENSG00000140937		Teebi hypertelorism syndrome 2, 619736 (3), Autosomal dominant; Elsahy-Waters syndrome, 211380 (3), Autosomal recessive	Cdh11 (MGI:99217)
chr16	66366691	66404784	16q22.1	16q21	601120	CDH5	Cadherin-5	CDH5	1003	ENSG00000179776			Cdh5 (MGI:105057)
chr16	66427295	66495288	16q21	16q21	612051	BEAN1, BEAN, SCA31	Brain-expressed, associated with NEDD4	BEAN1	146227	ENSG00000166546		Spinocerebellar ataxia 31, 117210 (3), Autosomal dominant	Bean1 (MGI:1929597)
chr16	66508003	66550291	16q22	16q21	188250	TK2, MTDPS2, PEOB3	Thymidine kinase, mitochondrial	TK2	7084	ENSG00000166548	mutation identified in 1 PEOB3 family	Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3), Autosomal recessive	Tk2 (MGI:1913266)
chr16	66552563	66566287	16q23	16q21	616074	CKLF, HSPC224	Chemokine-like factor	CKLF	51192	ENSG00000217555			Cklf (MGI:1922708)
chr16	66566439	66579135	16q22	16q21	607884	CMTM1, CKLFSF1	CKLF-like marvel transmembrane domain-containing 1	CMTM1	113540	ENSG00000089505			Cmtm1 (MGI:2447159)
chr16	66579463	66588275	16q22	16q21	607885	CMTM2, CKLFSF2	CKLF-like marvel transmembrane domain-containing 2	CMTM2	146225	ENSG00000140932			Cmtm2a,Cmtm2b (MGI:2447160,MGI:2447311)
chr16	66598178	66696743	16q22	16q21-q22.1	607887	CMTM4, CKLFSF4	CKLF-like marvel transmembrane domain-containing 4	CMTM4	146223	ENSG00000183723			Cmtm4 (MGI:2142888)
chr16	66600001	74100000	16q22		606179	ANBC	Aneurysmal bone cysts		114293		t(16:17); ?defect at 17p13	Aneurysmal bone cysts, 606179 (2)	
chr16	66600001	74100000	16q22		614541	C16DELq22, DEL16q22	Chromosome 16q22 deletion syndrome					Chromosome 16q22 deletion syndrome, 614541 (4), Isolated cases	
chr16	66600001	70800000	16q22.1		612590	CRCS9	Colorectal cancer, susceptibility to, 9		100329169		associated with rs9929218	{Colorectal cancer, susceptibility to, 9}, 612590 (2)	
chr16	66600001	74100000	16q22		604901	NAIC	North American Indian childhood cirrhosis					North American Indian childhood cirrhosis, 604901 (2)	
chr16	66600001	79200000	16q22.1-q23.1		611571	OTSC4	Otosclerosis 4		286751		between D16S3107 and D16S3097	{Otosclerosis 4}, 611571 (2), Autosomal dominant	
chr16	66603996	66613892	16q22	16q22.1	607886	CMTM3, CKLFSF3	CKLF-like marvel transmembrane domain-containing 3	CMTM3	123920	ENSG00000140931			Cmtm3 (MGI:2447162)
chr16	66720893	66751609	16q22.1	16q22.1	611406	DYNC1LI2, LIC2	Dynein, cytoplasmic 1, light intermediate chain 2	DYNC1LI2	1783	ENSG00000135720			Dync1li2 (MGI:107738)
chr16	66754640	66802025	16q22.1	16q22.1	617332	TERB1, CCDC79, SPGF60	Telomere repeat-binding bouquet formation protein 1	TERB1	283847	ENSG00000249961		Spermatogenic failure 60, 619646 (3), Autosomal recessive	Terb1 (MGI:2443187)
chr16	66802878	66830976	16q22	16q22.1	603385	NAE1, APPBP1, NEDFIH	NEDD8 activating enzyme E1 subunit 1	NAE1	8883	ENSG00000159593		Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, 620210 (3), Autosomal recessive	Nae1 (MGI:2384561)
chr16	66844414	66854147	16q21-q23	16q22.1	114770	CA7	Carbonic anhydrase VII	CA7	766	ENSG00000168748			Car7 (MGI:103100)
chr16	66880515	66891101	16q22.1	16q22.1	615499	PDP2, KIAA1348	Pyruvate dehydrogenase phosphatase catalytic subunit 2	PDP2	57546	ENSG00000172840			Pdp2 (MGI:1918878)
chr16	66908122	66918885	16q22.1	16q22.1	603118	CDH16	Cadherin-16	CDH16	1014	ENSG00000166589			Cdh16 (MGI:106671)
chr16	66921685	66925535	16q22	16q22.1	179503	RRAD	RRAD, Ras-related blycolysis inhibitor and calcium channel regulator	RRAD	6236	ENSG00000166592			Rrad (MGI:1930943)
chr16	66932065	66934402	16q22.1	16q22.1	614778	FAM96B, MIP18	Family with sequence similarity 96, member B	CIAO2B	51647	ENSG00000166595			Ciao2b (MGI:1915773)
chr16	66934471	66945096	16q22.1	16q22.1	605278	CES2	Carboxylesterase 2	CES2	8824	ENSG00000172831			Ces2a,Ces2b,Ces2c,Ces2e,Ces2f,Ces2g,Ces2h (MGI:1919153,MGI:1919611,MGI:2142491,MGI:2385905,MGI:2443170,MGI:2448547,MGI:3648740)
chr16	66961266	66975149	16q21	16q22.1	605279	CES3, ES31	Carboxylesterase 3	CES3	23491	ENSG00000172828			Ces3a,Ces3b (MGI:102773,MGI:3644960)
chr16	67029149	67101058	16q22	16q22.1	121360	CBFB, PEBP2B, CLCD2	Core-binding factor, beta subunit	CBFB	865	ENSG00000067955	inv(16)(p13;q22); fuses to MYH11	Cleidocranial dysplasia 2, 620099 (3), Autosomal dominant	Cbfb (MGI:99851)
chr16	67154185	67159909	16q22	16q22.1	603500	TRADD	TNRF1-associated death domain protein	TRADD	8717	ENSG00000102871			Tradd (MGI:109200)
chr16	67159957	67164174	16q22.1	16q22.1	609077	FBXL8, FBL8	F-box and leucine-rich repeat protein 8	FBXL8	55336	ENSG00000135722			Fbxl8 (MGI:1354697)
chr16	67163761	67169941	16q21-q22.1	16q22.1	602438	HSF4, CTM, CTRCT5	Heat-shock transcription factor 4	HSF4	3299	ENSG00000102878		Cataract 5, multiple types, 116800 (3), Autosomal dominant	Hsf4 (MGI:1347058)
chr16	67170538	67175737	16q21-q23	16q22.1	605235	NOL3, NOP, MYC, ARC, FCM, MYOCL1	Nucleolar protein 3	NOL3	8996	ENSG00000140939	mutation identified in 1 MYOCL1 family	?Myoclonus, familial, 1, 614937 (3), Autosomal dominant	Nol3 (MGI:1925938)
chr16	67175599	67183963	16q22.1	16q22.1	619978	MATCAP1, KIAA0895L	Microtubule-associated tyrosine carboxypeptidase 1	MATCAP1	653319	ENSG00000196123			Matcap1 (MGI:1921606)
chr16	67184379	67190136	16q22.1	16q22.1	614117	EXOC3L1, EXOC3L	Exocyst complex component 3-like 1	EXOC3L1	283849	ENSG00000179044			Exoc3l (MGI:3041195)
chr16	67192155	67198918	16q22.1	16q22.1	600659	E2F4	E2F transcription factor 4, p107/p130-binding	E2F4	1874	ENSG00000205250			E2f4 (MGI:103012)
chr16	67202321	67202395	16q22.1	16q22.1	613701	MIR328, MIRN328	Micro RNA 328	MIR328	442901	ENSG00000207948			Mir328 (MGI:3619340)
chr16	67199131	67204004	Chr.16	16q22.1	606422	ELMO3	Engulfment and cell motility gene 3	ELMO3	79767	ENSG00000102890			Elmo3 (MGI:2679007)
chr16	67227130	67229278	16q22.1	16q22.1	620781	TMEM208, HSPC171	Transmembrane protein 208	TMEM208	29100	ENSG00000168701			Tmem208 (MGI:1913570)
chr16	67229389	67247481	16q22	16q22.1	606881	FHOD1, FHOS	Formin homology 2 domain-containing 1	FHOD1	29109	ENSG00000135723			Fhod1 (MGI:2679008)
chr16	67248979	67272191	16q22.1	16q22.1	600477	SLC9A5, NHE5	Solute carrier family 9 (sodium/hydrogen exchanger), member 5	SLC9A5	6553	ENSG00000135740			Slc9a5 (MGI:2685542)
chr16	67277580	67289480	16q22.1	16q22.1	609526	PLEKHG4	Pleckstrin homology domain- and RhoGEF domain-containing protein G4	PLEKHG4	25894	ENSG00000196155			Plekhg4 (MGI:2142544)
chr16	67289432	67326741	16q22.1	16q22.1	619943	KCTD19	Potassium channel tetramerization domain-containing protein 19	KCTD19	146212	ENSG00000168676			Kctd19 (MGI:3045294)
chr16	67389809	67393498	16q22.1	16q22.1	616957	TPPP3, p20	Tubulin polymerization-promoting protein family, member 3	TPPP3	51673	ENSG00000159713			Tppp3 (MGI:1915221)
chr16	67429801	67437553	16q22	16q22.1	614232	HSD11B2, HSD11K, AME	Hydroxysteroid (11-beta) dehydrogenase 2	HSD11B2	3291	ENSG00000176387		Apparent mineralocorticoid excess, 218030 (3), Autosomal recessive	Hsd11b2 (MGI:104720)
chr16	67438019	67481157	16q22	16q22.1	607028	ATP6V0D1	ATPase, H+ transporting, V0 subunit D1	ATP6V0D1	9114	ENSG00000159720			Atp6v0d1 (MGI:1201778)
chr16	67482571	67483547	16q22	16q22.1	602311	AGRP, ART, AGRT	Agouti-related neuropeptide	AGRP	181	ENSG00000159723		{Leanness, inherited}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; {Obesity, late-onset}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant	Agrp (MGI:892013)
chr16	67518369	67546786	16q22.1	16q22.1	619842	RIPOR1, FAM65A	RHO family-interacting cell polarization regulator 1	RIPOR1	79567	ENSG00000039523			Ripor1 (MGI:1922937)
chr16	67562526	67639185	16q22.1	16q22.1	604167	CTCF, MRD21	CCCTC-binding factor	CTCF	10664	ENSG00000102974		Intellectual developmental disorder, autosomal dominant 21, 615502 (3), Autosomal dominant	Ctcf (MGI:109447)
chr16	67645144	67657569	16q22.1	16q22.1	610859	CARMIL2, RLTPR, IMD58	Capping protein regulator and myosin 1 linker 2	CARMIL2	146206	ENSG00000159753		Immunodeficiency 58, 618131 (3), Autosomal recessive	Carmil2 (MGI:2685431)
chr16	67657512	67660260	16q22.1	16q22.1	609377	ACD, PTOP, PIP1, TINT1	ACD shelterin complex subunit and telomerase recruitment factor	ACD	65057	ENSG00000102977	mutation has been identified in 1 DKCA7 and 1 DKCB7 family	?Dyskeratosis congenita, autosomal recessive 7, 616553 (3), Autosomal recessive, Autosomal dominant; ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3), Autosomal recessive, Autosomal dominant	Acd (MGI:87873)
chr16	67660960	67662774	16q22.1	16q22.1	607484	PARD6A, TAX40	PAR6 family cell polarity regulator alpha	PARD6A	50855	ENSG00000102981			Pard6a (MGI:1927223)
chr16	67662945	67666750	16p13.3	16q22.1	621119	ENKD1	Enkurin domain-containing protein 1	ENKD1	84080	ENSG00000124074			
chr16	67674536	67719316	16q22.1	16q22.1	619933	GFOD2	Glucose-fructose oxidoreductase domain-containing protein 2	GFOD2	81577	ENSG00000141098			Gfod2 (MGI:1917825)
chr16	67723070	67806560	16q22.1	16q22.1	614031	RANBP10, KIAA1464	Ran-binding protein 10	RANBP10	57610	ENSG00000141084			Ranbp10 (MGI:1921584)
chr16	67806889	67828068	16q22.1	16q22.1	607720	TSNAXIP1, TXI1	Translin-associated factor X-interacting protein 1	TSNAXIP1	55815	ENSG00000102904			Tsnaxip1 (MGI:1919486)
chr16	67828157	67847693	16q22.1	16q22.1	611510	CENPT, SSMGA	Centromere protein T	CENPT	80152	ENSG00000102901	mutation identified in 1 SSMGA family	?Short stature and microcephaly with genital anomalies, 618702 (3), Autosomal recessive	Cenpt (MGI:2443939)
chr16	67842320	67844195	16q22.1	16q22.1	609119	THAP11, RONIN, MAHCL, SCA51	THAP domain-containing protein 11	THAP11	57215	ENSG00000168286	mutation identified in 1 MAHCL patient	?Methylmalonic aciduria and homocystinuria, cblL type, 620940 (3), Autosomal recessive; Spinocerebellar ataxia 51, 620947 (3), Autosomal dominant	Thap11 (MGI:1930964)
chr16	67846933	67872567	16q22.1	16q22.1	605813	NUTF2, NTF2, PP15	Nuclear transport factor 2	NUTF2	10204	ENSG00000102898			Nutf2,Nutf2-ps1,Nutf2-ps2 (MGI:108008,MGI:1915301,MGI:3704482)
chr16	67873052	67884499	16q22.1	16q22.1	606030	EDC4, RCD8, GE1, HEDL5	Enhancer of mRNA decapping 4	EDC4	23644	ENSG00000038358			Edc4 (MGI:2446249)
chr16	67893254	67929676	16q22.1	16q22.1	177015	PSKH1, PFIC13	Putative serine kinase H1	PSKH1	5681	ENSG00000159792		Cholestasis, progressive familial intrahepatic, 13, 620962 (3), Autosomal recessive	Pskh1 (MGI:3528383)
chr16	67929574	67931862	16q22.1	16q22.1	118888	CTRL	Chymotrypsin-like protease	CTRL	1506	ENSG00000141086			Ctrl (MGI:88558)
chr16	67934506	67936850	16q22.1	16q22.1	176847	PSMB10, MECL1, LMP10, PRAAS5, IMD121	Proteosome subunit, beta-type, 10	PSMB10	5699	ENSG00000205220	3.1kb from LCAT	Immunodeficiency 121 with autoinflammation, 620807 (3), Autosomal dominant; Proteasome-associated autoinflammatory syndrome 5, 619175 (3), Autosomal recessive	Psmb10 (MGI:1096380)
chr16	67939750	67944120	16q22.1	16q22.1	606967	LCAT	Lecithin-cholesterol acyltransferase	LCAT	3931	ENSG00000213398	very close to HP	Fish-eye disease, 136120 (3), Autosomal recessive; Norum disease, 245900 (3), Autosomal recessive	Lcat (MGI:96755)
chr16	67943474	67968694	16q22.1	16q22.1	604119	SLC12A4, KCC1	Solute carrier family 12 (potassium/chloride transporters), member 4	SLC12A4	6560	ENSG00000124067			Slc12a4 (MGI:1309465)
chr16	67975663	67980499	16q22.1	16q22.1	609926	DPEP3, MBD3	Dipeptidase 3	DPEP3	64180	ENSG00000141096			Dpep3 (MGI:1919104)
chr16	67987390	68000619	16q22.1	16q22.1	609925	DPEP2, MBD2	Dipeptidase 2	DPEP2	64174	ENSG00000167261			Dpep2 (MGI:2442042)
chr16	68020916	68023232	16q22.1	16q22.1	607618	DDX28, MDDX28	DEAD-box helicase 28	DDX28	55794	ENSG00000182810			Ddx28 (MGI:1919236)
chr16	68023284	68079320	16q22.1	16q22.1	609707	DUS2L, DUS2	Dihydrouridine synthase 2-like	DUS2	54920	ENSG00000167264			Dus2 (MGI:1913619)
chr16	68229033	68236127	16q22.1	16q22.1	612960	ESRP2, RBM35B	Epithelial splicing regulatory protein 2	ESRP2	80004	ENSG00000103067			Esrp2 (MGI:1924661)
chr16	68085370	68229259	Chr.16	16q22.1	602698	NFATC3	Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 3	NFATC3	4775	ENSG00000072736			Nfatc3 (MGI:103296)
chr16	68245373	68261058	16q22.1	16q22.1	609362	LYPLA3, LLPL, ACS, LPLA2	Lysophospholipase 3	PLA2G15	23659	ENSG00000103066			Pla2g15 (MGI:2178076)
chr16	68298034	68310946	16q22.1	16q22.1	619192	SLC7A6OS, EPM12	Solute carrier family 7, member 6, opposite strand	SLC7A6OS	84138	ENSG00000103061		Epilepsy, progressive myoclonic, 12, 619191 (3), Autosomal recessive	Slc7a6os (MGI:1916951)
chr16	68264526	68301819	Chr.16	16q22.1	605641	SLC7A6	Solute carrier family 7 (y+L-type amino acid transporter), member 6	SLC7A6	9057	ENSG00000103064			Slc7a6 (MGI:2142598)
chr16	68311019	68360870	16q22.1	16q22.1	610087	PRMT7, KIAA1933, SBIDDS	Protein arginine N-methyltransferase 7	PRMT7	54496	ENSG00000132600		Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3), Autosomal recessive	Prmt7 (MGI:2384879)
chr16	68358327	68448508	16q22.1	16q22.1	605777	SMPD3, NSMASE2	Sphingomyelin phosphodiesterase 3, neutral membrane	SMPD3	55512	ENSG00000103056			Smpd3 (MGI:1927578)
chr16	68533479	68576506	16q22.1	16q22.1	609451	ZFP90, NK10, KIAA1954	Zinc finger protein 90, mouse, homolog of	ZFP90	146198	ENSG00000184939			Zfp90 (MGI:104786)
chr16	68645310	68733771	16q22.1	16q22.1	114021	CDH3, CDHP, PCAD, HJMD	Cadherin-3 (P-cadherin)	CDH3	1001	ENSG00000062038	in mouse tightly linked to ECAD	Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3), Autosomal recessive; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3), Autosomal recessive	Cdh3 (MGI:88356)
chr16	68737292	68835537	16q22.1	16q22.1	192090	CDH1, UVO, LCAM, ECAD, BCDS1	Cadherin-1 (E-cadherin; uvomorulin)	CDH1	999	ENSG00000039068	near LCAT	Ovarian cancer, somatic, 167000 (3); Blepharocheilodontic syndrome 1, 119580 (3), Autosomal dominant; Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, 137215 (3), Autosomal dominant; Endometrial carcinoma, somatic, 608089 (3); Breast cancer, lobular, somatic, 114480 (3)	Cdh1 (MGI:88354)
chr16	68843531	69085182	16q22.1	16q22.1	620188	TANGO6, TMCO7, KIAA1746	Transport and golgi organization 6 homolog	TANGO6	79613	ENSG00000103047			Tango6 (MGI:2142786)
chr16	69083484	69118719	16q22.1	16q22.1	602428	HAS3	Hyaluronan synthase 3	HAS3	3038	ENSG00000103044			Has3 (MGI:109599)
chr16	69118010	69132588	16q22.1	16q22.1	613202	CHTF8, CTF8	Chromosome transmission fidelity factor 8	CHTF8	54921	ENSG00000168802			Chtf8 (MGI:2443370)
chr16	69132649	69169021	16q22	16q22.1	607456	UTP4, CIRH1A, TEX292, KIAA1988	UTP4 small subunit processome component	UTP4	84916	ENSG00000141076			Utp4 (MGI:1096573)
chr16	69187164	69309052	16q22-q23	16q22.1	600027	SNTB2, SNT2B2, SNTL	Syntrophin, beta-2	SNTB2	6645	ENSG00000168807			Sntb2 (MGI:101771)
chr16	69311350	69326939	16q22	16q22.1	609982	VPS4A, VPS4, CIMDAG	Vacuolar protein sorting 4 homolog A	VPS4A	27183	ENSG00000132612		CIMDAG syndrome, 619273 (3), Autosomal dominant	Vps4a (MGI:1890520)
chr16	69326428	69339564	16q22.1	16q22.1	606979	COG8, DOR1, CDG2H	Component of oligomeric golgi complex 8	COG8	84342	ENSG00000213380		Congenital disorder of glycosylation, type IIh, 611182 (3)	Cog8 (MGI:2142885)
chr16	69326913	69330588	16q22.1	16q22.1	618720	PDF	Peptide deformylase, mitochondrial	PDF	64146	ENSG00000258429			Pdf (MGI:1915273)
chr16	69339772	69343106	16q22.1	16q22.1	619204	NIP7, KD93	Nucleolar pre-rRNA-processing protein NIP7	NIP7	51388	ENSG00000132603			Nip7 (MGI:1913414)
chr16	69355567	69386007	16q22.1	16q22.1	602027	TERF2, TRF2	Telomeric repeat-binding factor-2	TERF2	7014	ENSG00000132604			Terf2 (MGI:1195972)
chr16	69424619	69466264	16q22.1	16q22.1	611964	CYB5B, CYPB5M	Cytochrome b5, type B (outer mitochondrial membrane)	CYB5B	80777	ENSG00000103018			Cyb5b (MGI:1913677)
chr16	69565966	69704654	16q22.1	16q22.1	604708	NFAT5, KIAA0827, NFATL1, TONEBP	Nuclear factor of activated T cells 5	NFAT5	10725	ENSG00000102908			Nfat5 (MGI:1859333)
chr16	69709401	69726560	16q22.1	16q22.1	125860	NQO1, DIA4, NMOR1	NAD(P)H dehydrogenase, quinone 1 (diaphorase-4)	NQO1	1728	ENSG00000181019			Nqo1 (MGI:103187)
chr16	69741871	69754926	16q22.1	16q22.1	613586	NOB1	NIN1 (RPN12)-binding protein 1 homolog	NOB1	28987	ENSG00000141101			Nob1 (MGI:1914869)
chr16	69762332	69941739	16q21	16q22.1	602308	WWP2	WW domain-containing protein 2	WWP2	11060	ENSG00000198373			Wwp2 (MGI:1914144)
chr16	69933081	69933180	16q22.1	16q22.1	611894	MIR140, MIRN140, SEDN	Micro RNA 140	MIR140	406932	ENSG00000208017		Spondyloepiphyseal dysplasia, Nishimura type, 618618 (3), Autosomal dominant	Mir140 (MGI:2676825)
chr16	69943519	69966623	16q22.1	16q22.1	616571	CLEC18A	C-type lecting domain family 18, member A	CLEC18A	348174	ENSG00000157322			Clec18a (MGI:2672935)
chr16	70113626	70163427	16q22.1	16q22.1	617835	PDPR, KIAA1990	Pyruvate dehydrogenase phosphatase regulatory subunit	PDPR	55066	ENSG00000090857			Pdpr (MGI:2442188)
chr16	70173787	70186895	16q22.1	16q22.1	616573	CLEC18C	C-type lectin domain family 18, member C	CLEC18C	283971	ENSG00000157335			Clec18a (MGI:2672935)
chr16	70246778	70251940	16q22.1	16q22.1	606490	EXOSC6, MTR3	Exosome component 6	EXOSC6	118460	ENSG00000223496			Exosc6 (MGI:1919794)
chr16	70252298	70289506	16q22	16q22.1	601065	AARS1, AARS, CMT2N, DEE29, HDLS2, TTD8	Alanyl-tRNA synthetase 1	AARS1	16	ENSG00000090861	mutation identified in 1 HDLS2 family	Developmental and epileptic encephalopathy 29, 616339 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3), Autosomal dominant; ?Leukoencephalopathy, hereditary diffuse, with spheroids 2, 619661 (3), Autosomal dominant; Trichothiodystrophy 8, nonphotosensitive, 619691 (3), Autosomal recessive	Aars1 (MGI:2384560)
chr16	70289767	70335305	16q22.1	16q22.1	605812	DDX19B, DBP5	DEAD/H-box helicase 19B	DDX19B	11269	ENSG00000157349			Ddx19b (MGI:2148251)
chr16	70375977	70439100	16q22.1	16q22.1	607188	ST3GAL2, SIAT4B	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	ST3GAL2	6483	ENSG00000157350			St3gal2 (MGI:99427)
chr16	70454595	70480274	16q22.1	16q22.1	608675	FCSK, FUK, CDGF2	Fucose kinase	FCSK	197258	ENSG00000157353		Congenital disorder of glycosylation with defective fucosylation 2, 618324 (3), Autosomal recessive	Fcsk (MGI:1916071)
chr16	70480567	70523554	16q22.1	16q22.1	606976	COG4, COD1, CDG2J, SWILS	Component of oligomeric golgi complex 4	COG4	25839	ENSG00000103051		Congenital disorder of glycosylation, type IIj, 613489 (3), Autosomal recessive; Saul-Wilson syndrome, 618150 (3), Autosomal dominant	Cog4 (MGI:2142808)
chr16	70523816	70577668	16q22.1	16q22.1	605592	SF3B3, SF3B130, SAP130	Splicing factor 3B, subunit 3	SF3B3	23450	ENSG00000189091			Sf3b3 (MGI:1289341)
chr16	70579899	70660682	16q22.1	16q22.1	612081	IL34, C16orf77	Interleukin 34	IL34	146433	ENSG00000157368			Il34 (MGI:1923777)
chr16	70661204	70686053	16q22.1	16q22.1	616951	MTSS2, MTSS1L, ABBA1, IDDOF	MTSS I-BAR domain containing 2 protein	MTSS2	92154	ENSG00000132613		Intellectual developmental disorder with ocular anomalies and distinctive facial features, 620086 (3), Autosomal dominant	Mtss2 (MGI:3039591)
chr16	70687439	70801158	16q22.1	16q22.1-q22.2	604632	VAC14, TAX1BP2, TRX, SNDC	VAC14 component of PIKFYVE complex	VAC14	55697	ENSG00000103043		Striatonigral degeneration, childhood-onset, 617054 (3), Autosomal recessive	Vac14 (MGI:2157980)
chr16	70802084	71230722	16q22.2	16q22.2	610812	HYDIN, HYDIN1, CILD5	HYDIN axonemal central pair apparatus protein	HYDIN	54768	ENSG00000157423	duplicated copy on 1q21.1	Ciliary dyskinesia, primary, 5, 608647 (3), Autosomal recessive	Hydin (MGI:2389007)
chr16	71281392	71289722	16q22.2	16q22.2	616190	CMTR2, MTR2, FTSJD1	CAP methyltransferase 2	CMTR2	55783	ENSG00000180917			Cmtr2 (MGI:2384580)
chr16	71358723	71390433	16q22.1	16q22.2	114051	CALB2	Calbindin 2, 29kD (calretinin)	CALB2	794	ENSG00000172137			Calb2 (MGI:101914)
chr16	71447597	71462247	16q22	16q22.2	194527	ZNF23, KOX16	Zinc finger protein-32 (KOX16)	ZNF23	7571	ENSG00000167377			Zfp612 (MGI:2443465)
chr16	71473583	71489324	16q22	16q22.2	194525	ZNF19, KOX12	Zinc finger protein-19 (KOX12)	ZNF19	7567	ENSG00000157429	?16q23, 19q13		
chr16	71565660	71577092	16q22.1-q22.3	16q22.2	613018	TAT	Tyrosine aminotransferase, soluble	TAT	6898	ENSG00000198650		Tyrosinemia, type II, 276600 (3), Autosomal recessive	Tat (MGI:98487)
chr16	71626184	71641965	16q22.2	16q22.2	614094	MARVELD3	Marvel domain-containing protein 3	MARVELD3	91862	ENSG00000140832			Marveld3 (MGI:1920858)
chr16	71644924	71724701	16q22.3	16q22.2	611066	PHLPPL, PHLPP2	PH domain and leucine-rich repeat protein phosphatase-like	PHLPP2	23035	ENSG00000040199			Phlpp2 (MGI:2444928)
chr16	71729000	71808834	16q23	16q22.2	603533	AP1G1, ADTG, CLAPG1, USRISD	Adaptor-related protein complex 1, gamma 1 subunit (adaptin, gamma)	AP1G1	164	ENSG00000166747		Usmani-Riazuddin syndrome, autosomal recessive, 619548 (3), Autosomal recessive; Usmani-Riazuddin syndrome, autosomal dominant, 619467 (3), Autosomal dominant	Ap1g1 (MGI:101919)
chr16	71845976	71857328	16q22.2	16q22.2	614301	ATXN1L, BOAT1	Ataxin 1-like (brother of ataxin 1)	ATXN1L	342371	ENSG00000224470			Atxn1l (MGI:3694797)
chr16	71894408	71931199	16q22.2	16q22.2	616434	IST1, KIAA0174	IST1 factor associated with ESCRT-III	IST1	9798	ENSG00000182149			Ist1 (MGI:1919205)
chr16	71929538	72000402	16q22	16q22.2	607895	PKD1L3	Polycystin 1-like 3	PKD1L3	342372	ENSG00000277481			Pkd1l3 (MGI:2664670)
chr16	72008744	72027659	16q22	16q22.2	126064	DHODH, URA1, POADS	Dihydroorotate dehydrogenase	DHODH	1723	ENSG00000102967		Miller syndrome, 263750 (3), Autosomal recessive	Dhodh (MGI:1928378)
chr16	72054505	72061055	16q22.1	16q22.2	140100	HP	Haptoglobin	HP	3240	ENSG00000257017	just distal to fra16q22.1	[Anhaptoglobinemia], 614081 (3); [Hypohaptoglobinemia], 614081 (3)	Hp (MGI:96211)
chr16	72063226	72077246	16q22.1	16q22.2	140210	HPR	Haptoglobin-related locus	HPR	3250	ENSG00000261701	2.2kb 3' to HP; multiple tandem genes in blacks		Hp (MGI:96211)
chr16	72084857	72094378	16q22.2	16q22.2	617722	TXNL4B, DLP, DIM2	Thioredoxin-like 4B	TXNL4B	54957	ENSG00000140830			Txnl4b (MGI:2443724)
chr16	72093847	72112912	16q21-q22	16q22.2	605584	DHX38, DDX38, PRP16, RP84	DEAH-box helicase 38	DHX38	9785	ENSG00000140829		Retinitis pigmentosa 84, 618220 (3), Autosomal recessive	Dhx38 (MGI:1927617)
chr16	72116657	72249949	16q22.2	16q22.2	618085	PMFBP1, STAP, SPGF31	Polyamine-modulated factor 1-binding protein 1	PMFBP1	83449	ENSG00000118557		Spermatogenic failure 31, 618112 (3), Autosomal recessive	Pmfbp1 (MGI:1930136)
chr16	72782885	73891930	16q22.3-q23.1	16q22.2-q22.3	104155	ZFHX3, ATBF1, ATFB8, SCA4	Zinc finger homeobox 3	ZFHX3	463	ENSG00000140836		Prostate cancer, somatic, 176807 (3); {Atrial fibrillation 8, susceptibility to}, 613055 (3), Autosomal dominant; Spinocerebellar ataxia 4, 600223 (3), Autosomal dominant	Zfhx3 (MGI:99948)
chr16	72800001	79200000	16q22.3-q23.1		608932	KTCN2	Keratoconus 2		450092			Keratoconus 2, 608932 (2)	
chr16	73092349	73093774	16q22.3	16q22.3	615613	HCCAT5, HTA	Hepatocellular carcinoma-associated transcript 5	HCCAT5	283902	ENSG00000260880			
chr16	74100001	84100000	16q23		612727	BMND13	Bone mineral density quantitative trait locus 13		100294717		associated with rs16945612	[Bone mineral density QTL 13], 612727 (2)	
chr16	74100001	84100000	16q23		608462	HSCR8	Hirschsprung disease, susceptibility to, 8		404719			{Hirschsprung disease, susceptibility to, 8}, 608462 (2)	
chr16	74296814	74306288	16q23-q24	16q23.1	157970	PSMD7, MOV34	Proteasome 25S subunit, non-ATPase, 7 (Moloney leukemia virus-34 proviral integration homolog)	PSMD7	5713	ENSG00000103035			Psmd7 (MGI:1351511)
chr16	74408631	74424249	16q22.3	16q23.1	616572	CLEC18B	C-type lectin domain family 18, member B	CLEC18B	497190	ENSG00000140839			Clec18a (MGI:2672935)
chr16	74447440	74607114	16q22-q23	16q23.1	600753	GLG1	Golgi apparatus protein 1	GLG1	2734	ENSG00000090863			Glg1 (MGI:104967)
chr16	74621399	74666877	16q23.1	16q23.1	614151	RFWD3, FANCW	RING finger and WD repeat domains-containing protein 3	RFWD3	55159	ENSG00000168411	mutation identified in 1 FANCW patient	?Fanconi anemia, complementation group W, 617784 (3), Autosomal recessive	Rfwd3 (MGI:2384584)
chr16	74671855	74700862	16q23.1	16q23.1	615153	MLKL	Mixed lineage kinase domain-like protein	MLKL	197259	ENSG00000168404			Mlkl (MGI:1921818)
chr16	74712969	74774820	16q23	16q23.1	611026	FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35	Fatty acid 2-hydroxylase	FA2H	79152	ENSG00000103089		Spastic paraplegia 35, autosomal recessive, 612319 (3), Autosomal recessive	Fa2h (MGI:2443327)
chr16	74871362	74985123	16q23.1	16q23.1	617418	WDR59, KIAA1923	WD repeat-containing protein 59	WDR59	79726	ENSG00000103091			Wdr59 (MGI:2442115)
chr16	74999024	75110994	16q23.1	16q23.1	612060	ZNRF1, NIN283	Zinc finger and ring finger protein 1	ZNRF1	84937	ENSG00000186187			Znrf1 (MGI:2177308)
chr16	75111864	75116780	16q23.1	16q23.1	607490	LDHD, DLACD	D-lactate dehydrogenase	LDHD	197257	ENSG00000166816		D-lactic aciduria with susceptibility to gout, 245450 (3), Autosomal recessive	Ldhd (MGI:106428)
chr16	75119002	75172234	16q23.1	16q23.1	617230	ZFP1, ZNF475	Zinc finger protein 1, mouse, homolog of	ZFP1	162239	ENSG00000184517			Zfp1 (MGI:99154)
chr16	75204103	75207161	16q23.1	16q23.1	619620	CTRB2	Chymotrypsinogen B2	CTRB2	440387	ENSG00000168928			Ctrb1 (MGI:88559)
chr16	75218988	75224924	16q23.2-q23.3	16q23.1	118890	CTRB1	Chymotrypsinogen B1	CTRB1	1504	ENSG00000168925	HP-7cM-TAT-9cM-CTRB		Ctrb1 (MGI:88559)
chr16	75228181	75268007	16q23.1	16q23.1	602941	BCAR1, CRKAS, CAS	BCAR1 scaffold protein, CAS family member	BCAR1	9564	ENSG00000050820			Bcar1 (MGI:108091)
chr16	75293710	75433503	16q22.2-q22.3	16q23.1	608108	CFDP1, CP27, BCNT	Craniofacial development protein 1	CFDP1	10428	ENSG00000153774			Cfdp1 (MGI:1344403)
chr16	75443054	75464737	16q23.1	16q23.1	620630	TMEM170A	Transmembrane protein 170A	TMEM170A	124491	ENSG00000166822			Tmem170 (MGI:106426)
chr16	75472042	75495441	16q22	16q23.1	605294	CHST6, MCDC1	Carbohydrate sulfotransferase-6 (GlcNAc-6-sulfotransferase, corneal)	CHST6	4166	ENSG00000183196		Macular corneal dystrophy, 217800 (3), Autosomal recessive	Chst5 (MGI:1931825)
chr16	75528530	75536108	16q22	16q23.1	604817	CHST5	Carbohydrate sulfotransferase-5 (GlcNAc-6-O-sulfotransferase, intestinal)	CHST5	23563	ENSG00000135702			Chst5 (MGI:1931825)
chr16	75536741	75556286	16q23.1	16q23.1	614949	TMEM231, JBTS20, MKS11	Transmembrane protein 231	TMEM231	79583	ENSG00000205084		Joubert syndrome 20, 614970 (3), Autosomal recessive; Meckel syndrome 11, 615397 (3), Autosomal recessive	Tmem231 (MGI:2685024)
chr16	75566379	75577881	16q22.3-q24.1	16q23.1	607452	GABARAPL2	GABA-A receptor-associated protein-like protein 2	GABARAPL2	11345	ENSG00000034713			Gabarapl2 (MGI:1890602)
chr16	75596868	75623281	16q22.2-q22.3	16q23.1	604230	ADAT1	Adenosine deaminase, tRNA-specific, 1	ADAT1	23536	ENSG00000065457			Adat1 (MGI:1353631)
chr16	75627724	75647665	16q22.2-q22.3	16q23.1	601421	KARS1, KARS, CMTRIB, DFNB89, LEPID, DEAPLE	Lysyl-tRNA synthetase 1	KARS1	3735	ENSG00000065427	mutation identified in 1 CMTRIB patient	Deafness, autosomal recessive 89, 613916 (3), Autosomal recessive; Leukoencephalopathy, progressive, infantile-onset, with or without deafness, 619147 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3), Autosomal recessive; Deafness, congenital, and adult-onset progressive leukoencephalopathy, 619196 (3), Autosomal recessive	Kars1 (MGI:1934754)
chr16	75647773	75657432	16q23.1	16q23.1	605061	TERF2IP, RAP1	Telomeric repeat binding factor 2, interacting protein	TERF2IP	54386	ENSG00000166848			Terf2ip (MGI:1929871)
chr16	75693893	75701461	16q23.1	16q23.1	618698	DUXB	Double homeobox B	DUXB	100033411	ENSG00000282757			Duxbl1 (MGI:1916048)
chr16	75714131	75726490	16q23.1	16q23.1	618700	CPHXL, CPHXL1	Cytoplasmic polyadenylated homeobox-like	CPHXL	105371346	ENSG00000283755			Cphx1 (MGI:2145733)
chr16	76277401	76560757	16q22	16q23.1	610518	CNTNAP4, CASPR4, KIAA1763	Contactin-associated protein-like 4	CNTNAP4	85445	ENSG00000152910			Cntnap4 (MGI:2183572)
chr16	77191190	77202398	16q23.1	16q23.1	608954	MON1B, SRG1, KIAA0872	MON1 homolog B, secretory trafficking-associated	MON1B	22879	ENSG00000103111			Mon1b (MGI:1923231)
chr16	77199408	77213215	16q23.1	16q23.1	619954	SYCE1L	Synaptonemal complex central element protein 1-like	SYCE1L	100130958	ENSG00000205078			Syce1l (MGI:1922247)
chr16	77282128	77435034	16q23	16q23.1	607512	ADAMTS18, MMCAT	ADAM metallopeptidase domain with thrombospondin type 1 motif, 18	ADAMTS18	170692	ENSG00000140873		Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3), Autosomal recessive	Adamts18 (MGI:2442600)
chr16	77722514	77742260	16q23.1	16q23.1	609231	NUDT7	Nudix hydrolase 7	NUDT7	283927	ENSG00000140876			Nudt7 (MGI:1914778)
chr16	77788564	77980107	16q23.1	16q23.1	620202	VAT1L, KIAA1576	Vesicle amine transport protein 1-like	VAT1L	57687	ENSG00000171724			Vat1l (MGI:2142534)
chr16	78022548	78032101	16q23	16q23.1	613588	CLEC3A, CLECSF1	C-type lectin domain family 3, member A	CLEC3A	10143	ENSG00000166509			Clec3a (MGI:2685642)
chr16	78099654	79212667	16q23.3-q24.1	16q23.1-q23.2	605131	WWOX, FOR, SCAR12, DEE28	WW domain-containing oxidoreductase	WWOX	51741	ENSG00000186153		Esophageal squamous cell carcinoma, somatic, 133239 (3); Developmental and epileptic encephalopathy 28, 616211 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 12, 614322 (3), Autosomal recessive	Wwox (MGI:1931237)
chr16	79202622	79600737	16q22-q23	16q23.2	177075	MAF, CCA4, CTRCT21, AYGRP	MAF bZIP transcription factor	MAF	4094	ENSG00000178573		Cataract 21, multiple types, 610202 (3), Autosomal dominant; Ayme-Gripp syndrome, 601088 (3), Autosomal dominant	Maf (MGI:96909)
chr16	79721312	79770532	16q23.2	16q23.2	616264	MAFTRR, lincMAF4	MAF transcriptional regulator FNA, noncoding	MAFTRR	102467146	ENSG00000261390			
chr16	80540734	80550811	16q23.3	16q23.2	607168	DYNLRB2, DNCL2B	Dynein, light chain, roadblock-type 2	DYNLRB2	83657	ENSG00000168589			Dynlrb2 (MGI:1922715)
chr16	80597907	80805037	16q23.2	16q23.2	618816	CDYL2	CDY-like protein 2	CDYL2	124359	ENSG00000166446			Cdyl2 (MGI:1923046)
chr16	80828735	80892596	16q23.2	16q23.2	618053	ARLNC1, LINC02170	Androgen receptor-regulated long noncoding RNA 1	ARLNC1	100996425	ENSG00000260896			
chr16	81007214	81033107	16q23.2	16q23.2	611509	CENPN	Centromere protein N	CENPN	55839	ENSG00000166451			Cenpn (MGI:1919405)
chr16	81035842	81047350	16q23.2	16q23.2	614693	ATMIN, ASCIZ, KIAA0431	ATM interactor	ATMIN	23300	ENSG00000166454			Atmin (MGI:2682328)
chr16	81081945	81096395	16q24	16q23.2	238330	GCSH, MMDS7	Glycine cleavage system H protein	GCSH	2653	ENSG00000140905		Multiple mitochondrial dysfunctions syndrome 7, 620423 (3), Autosomal recessive	Gcsh (MGI:1915383)
chr16	81100875	81220394	16q23.2	16q23.2	607894	PKD1L2, PC1L2, KIAA1879	Polycystin 1-like 2	PKD1L2	114780	ENSG00000166473			Pkd1l2 (MGI:2664668)
chr16	81238689	81291142	16q21-q23	16q23.2	605748	BCO1, BCMO1, BCDO	Beta-carotene oxygenase 1	BCO1	53630	ENSG00000135697	mutation identified in 1 HCVAD patient	?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3), Autosomal dominant	Bco1 (MGI:1926923)
chr16	81314962	81390809	16q24.1	16q23.2	605379	GAN, GAN1	Gigaxonin	GAN	8139	ENSG00000261609		Giant axonal neuropathy-1, 256850 (3), Autosomal recessive	Gan (MGI:1890619)
chr16	81444808	81711762	16q24	16q23.2-q23.3	610112	CMIP, KIAA1694, TCMIP	C-MAF-inducing protein	CMIP	80790	ENSG00000153815			Cmip (MGI:1921690)
chr16	81600001	84100000	16q23.3		613836	ADIPQTL5	Adiponectin, serum level of, quantitative trait locus 5		100653375		associated with rs3865188	[Adiponectin, serum level of, QTL5], 613836 (2)	
chr16	81739041	81962685	16q24.1	16q23.3	600220	PLCG2, FCAS3, APLAID	Phospholipase C, gamma 2	PLCG2	5336	ENSG00000197943		Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3), Autosomal dominant; Familial cold autoinflammatory syndrome 3, 614468 (3), Autosomal dominant	Plcg2 (MGI:97616)
chr16	81988855	82011470	16q23.3	16q23.3	616164	SDR42E1	Short-chain dehydrogenase/reductase family 42E, member 1	SDR42E1	93517	ENSG00000184860			Sdr42e1 (MGI:1921282)
chr16	82035253	82098534	16q24.1-q24.2	16q23.3	109685	HSD17B2, EDH17B2	Hydroxysteroid (17-beta) dehydrogenase 2	HSD17B2	3294	ENSG00000086696			Hsd17b2 (MGI:1096386)
chr16	82148162	82170224	Chr.16	16q23.3	605500	MPHOSPH6, MPP	M-phase phosphoprotein 6	MPHOSPH6	10200	ENSG00000135698			Mphosph6 (MGI:1915783)
chr16	82626969	83800640	16q24.2-q24.3	16q23.3	601364	CDH13, CDHH	Cadherin-13 (H-cadherin, heart)	CDH13	1012	ENSG00000140945			Cdh13 (MGI:99551)
chr16	83807978	83819737	16q23.3	16q23.3	604553	HSBP1	Heat-shock factor-binding protein 1	HSBP1	3281	ENSG00000230989			Hsbp1 (MGI:1915446)
chr16	83899115	83927031	16q24	16q23.3	606761	MLYCD, MCD	Malonyl-CoA decarboxylase	MLYCD	23417	ENSG00000103150		Malonyl-CoA decarboxylase deficiency, 248360 (3), Autosomal recessive	Mlycd (MGI:1928485)
chr16	83953240	83966332	16q23.3	16q23.3	607975	OSGIN1, OKL38	Oxidative stress-induced growth inhibitor 1	OSGIN1	29948	ENSG00000140961			Osgin1 (MGI:1919089)
chr16	83965177	84002776	16q23.3	16q23.3	618130	NECAB2	N-terminal EF-hand calcium-binding protein 2	NECAB2	54550	ENSG00000103154			Necab2 (MGI:2152211)
chr16	84009667	84043372	16q23.3	16q23.3	615585	SLC38A8, FVH2	Solute carrier family 38 (amino acid transporter), member 8	SLC38A8	146167	ENSG00000166558		Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3), Autosomal recessive	Slc38a8 (MGI:2685433)
chr16	84053763	84116942	16q24	16q23.3-q24.1	603355	MBTPS1, S1P, SEDKF	Membrane-bound transcription factor protease, site 1	MBTPS1	8720	ENSG00000140943	mutation identified in 1 SEDKF patient	?Spondyloepiphyseal dysplasia, Kondo-Fu type, 618392 (3), Autosomal recessive	Mbtps1 (MGI:1927235)
chr16	84100001	87000000	16q24.1		607687	HDLC3	High density lipoprotein cholesterol, low serum, 3		353125			{High density lipoprotein cholesterol, low serum, 3}, 607687 (2)	
chr16	84100001	90338345	16q24		613547	STQTL22	Stature quantitative trait locus 22		100529227		linked to rs299956 and rs2076962	{Stature QTL 22}, 613547 (2)	
chr16	84122141	84145177	16q24.2	16q24.1	619067	HSDL1	Hydroxysteroid dehydrogenase-like protein 1	HSDL1	83693	ENSG00000103160			Hsdl1 (MGI:1919802)
chr16	84145308	84177920	16q24.1	16q24.1	613190	DNAAF1, LRRC50, ODA7, CILD13	Dynein, axonemal, assembly factor 1	DNAAF1	123872	ENSG00000154099		Ciliary dyskinesia, primary, 13, 613193 (3), Autosomal recessive	Dnaaf1 (MGI:1915520)
chr16	84177855	84187057	16q24	16q24.1	604905	TAF1C, TAFI110, SL1	TATA box-binding protein-associated factor 1C	TAF1C	9013	ENSG00000103168			Taf1c (MGI:109576)
chr16	84191157	84197166	16q24.1	16q24.1	619532	ADAD2, TENRL	Adenosine deaminase domain-containing protein 2	ADAD2	161931	ENSG00000140955			Adad2 (MGI:1923023)
chr16	84218657	84240012	16q24.1	16q24.1	607603	KCNG4, KV6.3, KV6.4	Potassium channel, voltage-gated, subfamily G, member 4	KCNG4	93107	ENSG00000168418			Kcng4 (MGI:1913983)
chr16	84294878	84329844	16q24.3	16q24.1	605322	WFDC1, PS20	WAP four-disulfide core domain-1, mouse, homolog of	WFDC1	58189	ENSG00000103175			Wfdc1 (MGI:1915116)
chr16	84368538	84464187	16q24.1	16q24.1	613082	ATP2C2, SPCA2, KIAA0703	ATPase, Ca(2+)-transporting, type 2C, member 2	ATP2C2	9914	ENSG00000064270			Atp2c2 (MGI:1916297)
chr16	84476355	84504659	16q24.1	16q24.1	619331	MEAK7, EAK7, TLDC1, KIAA1609	MTOR-associated protein, eak7 homolog	MEAK7	57707	ENSG00000140950			Meak7 (MGI:1921597)
chr16	84565596	84618078	16q24.1	16q24.1	606748	COTL1, CLP	Coactosin-like protein 1	COTL1	23406	ENSG00000103187	pseudogenes on 15, 17, and Y		Cotl1 (MGI:1919292)
chr16	84700000	84779922	16q24.1	16q24.1	609818	USP10, KIAA0190	Ubiquitin-specific protein 10	USP10	9100	ENSG00000103194			Usp10 (MGI:894652)
chr16	84819985	84909508	16q24.1	16q24.1	612434	CRISPLD2	Cysteine-rich secretory protein, LCCL domain-containing, 2	CRISPLD2	83716	ENSG00000103196			Crispld2 (MGI:1926142)
chr16	84974175	85027631	16q24.1	16q24.1	614604	ZDHHC7, DHHC7	Zinc finger DHHC domain-containing protein 7	ZDHHC7	55625	ENSG00000153786			Zdhhc7 (MGI:2142662)
chr16	85027795	85094230	16q24.1	16q24.1	611675	KIAA0513	KIAA0513 gene	KIAA0513	9764	ENSG00000135709			6430548M08Rik (MGI:2443793)
chr16	85098358	85112472	16q24.1	16q24.1	617274	FAM92B	Family with sequence similarity 92, member B	CIBAR2	339145	ENSG00000153789			Cibar2 (MGI:3588213)
chr16	85169512	85676200	16q24.1	16q24.1	616886	GSE1, KIAA0182	GSE1 coiled-coil protein	GSE1	23199	ENSG00000131149			Gse1 (MGI:1098275)
chr16	85676198	85688954	16q24.1	16q24.1	610609	GINS2, PSF2	GINS complex subunit 2	GINS2	51659	ENSG00000131153			Gins2 (MGI:1921019)
chr16	85778624	85799544	16q24.1	16q24.1	604886	EMC8, NOC4	ER membrane protein complex subunit 8	EMC8	10328	ENSG00000131148			Emc8 (MGI:1343095)
chr16	85799695	85807068	16q22-qter	16q24.1	123864	COX4I1, COX4, MC4DN16	Cytochrome c oxidase, subunit IV, isoform 1	COX4I1	1327	ENSG00000131143		Mitochondrial complex IV deficiency, nuclear type 16, 619060 (3), Autosomal recessive	Cox4i1 (MGI:88473)
chr16	85899162	85922609	16q24.1	16q24.1	601565	IRF8, ICSBP1, IMD32A, IMD32B	Interferon regulatory factor 8	IRF8	3394	ENSG00000140968		Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3), Autosomal dominant; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3), Autosomal recessive	Irf8 (MGI:96395)
chr16	86196181	86199720	16q24.1	16q24.1	614978	TCONS00024492	Long noncoding RNA TCONS_00024492	LINC01082	100506542	ENSG00000269186			
chr16	86225580	86286247	16q24.1	16q24.1	614977	LINC01081, TCONS00024764	Long intergenic non-protein coding RNA 1081	LINC01081	101154687				
chr16	86474525	86508860	16q24.1	16q24.1	614975	FENDRR, FOXF1AS1, TCONS_00024240	FOXF1 adjacent noncoding developmental regulatory RNA	FENDRR	400550	ENSG00000268388	partial overlap with FOXF1 promoter		Fendrr (MGI:1916040)
chr16	86510527	86515422	16q24	16q24.1	601089	FOXF1, FKHL5, ACDMPV	Forkhead box F1	FOXF1	2294	ENSG00000103241		Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3), Autosomal dominant	Foxf1 (MGI:1347470)
chr16	86530186	86555235	16q24.1	16q24.1	616820	MTHFSD	Methenyltetrahydrofolate synthetase domain-containing protein	MTHFSD	64779	ENSG00000103248			Mthfsd (MGI:2679252)
chr16	86566829	86569728	16q24.3	16q24.1	602402	FOXC2, FKHL14, MFH1	Forkhead box C2	FOXC2	2303	ENSG00000176692		Lymphedema-distichiasis syndrome, 153400 (3), Autosomal dominant; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3), Autosomal dominant	Foxc2 (MGI:1347481)
chr16	86578549	86583478	16q24.1	16q24.1	603252	FOXL1, FKHL11, FREAC7, FKH6, OTSC11	Forkhead box L1	FOXL1	2300	ENSG00000176678		Otosclerosis 11, 620576 (3), Autosomal dominant	Foxl1 (MGI:1347469)
chr16	87326987	87392121	16q24.3	16q24.2	609102	FBXO31, FBX31, FBXO14, FBX14, MRT45	F-box only protein 31	FBXO31	79791	ENSG00000103264	mutation identified in 1 MRT45 family	?Intellectual developmental disorder, autosomal recessive 45, 615979 (3), Autosomal recessive	Fbxo31 (MGI:1354708)
chr16	87392336	87404774	16q24.2	16q24.2	609604	MAP1LC3B, LC3B	Microtubule-associated protein 1, light chain 3, beta	MAP1LC3B	81631	ENSG00000140941			Map1lc3b (MGI:1914693)
chr16	87406248	87493024	16q24.2	16q24.2	620697	ZCCHC14	Zinc finger CCHC domain-containing protein 14	ZCCHC14	23174	ENSG00000140948			Zcchc14 (MGI:2159407)
chr16	87601835	87698156	16q24.3	16q24.2	605268	JPH3, JP3, HDL2	Junctophilin 3	JPH3	57338	ENSG00000154118	mutation identified in 1 HDL2 family	Huntington disease-like 2, 606438 (3), Autosomal dominant	Jph3 (MGI:1891497)
chr16	87698146	87765986	16q24.2	16q24.2	620518	KLHDC4	Kelch domain-containing protein 4	KLHDC4	54758	ENSG00000104731			Klhdc4 (MGI:2384569)
chr16	87830023	87869507	16q24.3	16q24.2	600182	SLC7A5, D16S469E, MPE16	Solute carrier family 7, member 5	SLC7A5	8140	ENSG00000103257			Slc7a5 (MGI:1298205)
chr16	87881549	87936529	16q24.3	16q24.2	114761	CA5A, CA5AD	Carbonic anhydrase VA (mitochondrial)	CA5A	763	ENSG00000174990	pseudogene on 16p	Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3), Autosomal recessive	Car5a (MGI:101946)
chr16	87949238	88077318	16q24	16q24.2	611564	BANP, SMAR1	BTG3-associated nuclear protein	BANP	54971	ENSG00000172530			Banp (MGI:1889023)
chr16	88100931	88440753	16q24	16q24.2	612078	ZNF469, KIAA1858, BCS1	Zinc finger protein 469	ZNF469	84627	ENSG00000225614		Brittle cornea syndrome 1, 229200 (3), Autosomal recessive	Zfp469 (MGI:2684868)
chr16	88451769	88537031	16q24.3	16q24.2	601950	ZFPM1, FOG, FOG1	Zinc finger protein, multitype 1 (friend of GATA1)	ZFPM1	161882	ENSG00000179588			Zfpm1 (MGI:1095400)
chr16	88638572	88640468	16q24	16q24.2	604628	IL17C	Interleukin 17C	IL17C	27189	ENSG00000124391			Il17c (MGI:2446486)
chr16	88643289	88651053	16q24	16q24.2	608508	CYBA, CGD4	Cytochrome b-245, alpha polypeptide	CYBA	1535	ENSG00000051523		Chronic granulomatous disease 4, autosomal recessive, 233690 (3), Autosomal recessive	Cyba (MGI:1316658)
chr16	88651940	88663091	16q24.3	16q24.2	603236	MVD, MPD, POROK7	Mevalonate pyrophosphate decarboxylase	MVD	4597	ENSG00000167508		Porokeratosis 7, multiple types, 614714 (3), Autosomal dominant	Mvd (MGI:2179327)
chr16	88677688	88686507	16q24.3	16q24.2	612741	SNAI3, SNAIL3, SMUC, ZFP293	SNAIL, Drosophila, homolog of, 3	SNAI3	333929	ENSG00000185669			Snai3 (MGI:1353563)
chr16	88696501	88706408	16q24.2-q24.3	16q24.2-q24.3	617178	RNF166	RING finger protein 166	RNF166	115992	ENSG00000158717			Rnf166 (MGI:1915968)
chr16	88700001	90338345	16q24.3		612525	IHPS5	Pyloric stenosis, infantile hypertrophic, 5		100270639		between rs7197068 and rs750740	Pyloric stenosis, infantile hypertrophic, 5, 612525 (2)	
chr16	88706503	88715396	16q24.3	16q24.3	617057	CTU2, C16orf84, NCS2, MFRG	Cytosolic thiouridylase, subunit 2	CTU2	348180	ENSG00000174177		Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3), Autosomal recessive	Ctu2 (MGI:1914215)
chr16	88715338	88785220	16q24.3	16q24.3	611184	PIEZO1, FAM38A, MIB, DHS, LMPHM6, ER	PIEZO1 ion channel	PIEZO1	9780	ENSG00000103335		[ER blood group system], 620207 (3), Autosomal recessive; Lymphatic malformation 6, 616843 (3), Autosomal recessive; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3), Autosomal dominant	Piezo1 (MGI:3603204)
chr16	88803789	88809258	16q24.3	16q24.3	605525	CDT1	Chromatin licensing and DNA replication factor 1	CDT1	81620	ENSG00000167513		Meier-Gorlin syndrome 4, 613804 (3), Autosomal recessive	Cdt1 (MGI:1914427)
chr16	88809339	88811928	16q24.3	16q24.3	102600	APRT, APRTD	Adenine phosphoribosyltransferase	APRT	353	ENSG00000198931	telomeric to GALNS, transcribed in same cen-tel direction	Adenine phosphoribosyltransferase deficiency, 614723 (3), Autosomal recessive	Aprt (MGI:88061)
chr16	88813734	88856947	16q24.3	16q24.3	612222	GALNS, MPS4A	Galactosamine (N-acetyl)-6-sulfate sulfatase	GALNS	2588	ENSG00000141012	centromeric to APRT	Mucopolysaccharidosis IVA, 253000 (3), Autosomal recessive	Galns (MGI:1355303)
chr16	88856220	88862678	16q22.1-q22.2	16q24.3	610970	TRAPPC2L, PERRB	Trafficking protein particle complex 2-like	TRAPPC2L	51693	ENSG00000167515		Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 (3), Autosomal recessive	Trappc2l (MGI:1916295)
chr16	88874858	88977207	16q24	16q24.3	603870	CBFA2T3, MTGR2, MTG16	Core-binding factor, alpha subunit 2, translocated to, 3	CBFA2T3	863	ENSG00000129993			Cbfa2t3 (MGI:1338013)
chr16	89093852	89156233	16q24.3	16q24.3	614245	ACSF3	Acyl-CoA synthetase family member 3	ACSF3	197322	ENSG00000176715		Combined malonic and methylmalonic aciduria, 614265 (3), Autosomal recessive	Acsf3 (MGI:2182591)
chr16	89171748	89195492	16q24.3	16q24.3	114019	CDH15, CDH14, CDH3, MRD3	Cadherin-15, M-cadherin (myotubule)	CDH15	1013	ENSG00000129910	tightly linked to Aprt in mouse	Intellectual developmental disorder, autosomal dominant 3, 612580 (3), Autosomal dominant	Cdh15 (MGI:106672)
chr16	89267630	89490561	16q24.3	16q24.3	611192	ANKRD11, ANCO1, KBGS	Ankyrin repeat domain-containing protein 11	ANKRD11	29123	ENSG00000167522		KBG syndrome, 148050 (3), Autosomal dominant	Ankrd11 (MGI:1924337)
chr16	89508388	89557768	16q24.3	16q24.3	602783	PGN, SPG7, CMAR, CAR	SPG7 matrix AAA peptidase subunit, paraplegin	SPG7	6687	ENSG00000197912		Spastic paraplegia 7, autosomal recessive, 607259 (3), Autosomal recessive, Autosomal dominant	Spg7 (MGI:2385906)
chr16	89560657	89566829	16q24.3	16q24.3	113703	RPL13, BBC1, D16S44E, SEMDIST	Ribosomal protein L13	RPL13	6137	ENSG00000167526		Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, 618728 (3), Autosomal dominant	Rpl13,Rpl13-ps6 (MGI:105922,MGI:3642685)
chr16	89575758	89597246	16q24.3	16q24.3	605689	CPNE7	Copine VII	CPNE7	27132	ENSG00000178773			Cpne7 (MGI:2142747)
chr16	89613308	89641540	16q24.3	16q24.3	179780	DPEP1, RDP, MDP, MBD1	Dipeptidase 1	DPEP1	1800	ENSG00000015413			Dpep1 (MGI:94917)
chr16	89644435	89657708	16q24.3	16q24.3	164010	CHMP1A, PCOLN3, PRSM1, PCH8	Charged multivesicular body protein 1A	CHMP1A	5119	ENSG00000131165		Pontocerebellar hypoplasia, type 8, 614961 (3), Autosomal recessive	Chmp1a (MGI:1920159)
chr16	89657776	89670458	16q24.3	16q24.3	615409	SPATA33, C16orf55	Spermatogenesis-associated protein 33	SPATA33	124045	ENSG00000167523			Spata33 (MGI:2444920)
chr16	89686689	89696354	16q24	16q24.3	603464	CDK10, PISSLRE, ALSAS	Cyclin-dependent kinase 10	CDK10	8558	ENSG00000185324		Al Kaissi syndrome, 617694 (3), Autosomal recessive	Cdk10 (MGI:2448549)
chr16	89707134	89720898	16q24	16q24.3	619292	VPS9D1, ATPBL	VPS9 domain-containing protein 1	VPS9D1	9605	ENSG00000075399			Vps9d1 (MGI:1914143)
chr16	89720368	89740925	16q24.3	16q24.3	608460	ZFP276	Zinc finger protein 276	ZNF276	92822	ENSG00000158805			Zfp276 (MGI:1888495)
chr16	89737549	89816647	16q24.3	16q24.3	607139	FANCA, FACA, FA1, FA, FAA	Fanconi anemia, complementation group A	FANCA	2175	ENSG00000187741	linkage heterogeneity	Fanconi anemia, complementation group A, 227650 (3), Autosomal recessive	Fanca (MGI:1341823)
chr16	89828475	89871319	16q24.3	16q24.3	609217	SPIRE2, KIAA1832	Spire-type actin nucleation factor 2	SPIRE2	84501	ENSG00000204991			Spire2 (MGI:2446256)
chr16	89873592	89911379	16q24.3	16q24.3	612326	TCF25, NULP1, KIAA1049	Transcription factor 25	TCF25	22980	ENSG00000141002			Tcf25 (MGI:1914105)
chr16	89918862	89920972	16q24.3	16q24.3	155555	MC1R, SHEP2, CMM5	Melanocortin-1 receptor (alpha melanocyte-stimulating hormone receptor)	MC1R	4157	ENSG00000258839		[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3), Autosomal recessive; [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3), Autosomal recessive; {Melanoma, cutaneous malignant, 5}, 613099 (3); {Albinism, oculocutaneous, type II, modifier of}, 203200 (3), Autosomal recessive; {UV-induced skin damage}, 266300 (3), Autosomal recessive	Mc1r (MGI:99456)
chr16	89921925	89936097	16q24.3	16q24.3	602661	TUBB3, TUBB4, CFEOM3A, CDCBM1	Tubulin, beta-3	TUBB3	10381	ENSG00000258947		Fibrosis of extraocular muscles, congenital, 3A, 600638 (3), Autosomal dominant; Cortical dysplasia, complex, with other brain malformations 1, 614039 (3), Autosomal dominant	Tubb3 (MGI:107813)
chr16	89972580	90000787	16q24	16q24.3	603020	AFG3L1, AFG3	AFG3-like matrix AAA peptidase, subunit 1, pseudogene	AFG3L1P	172	ENSG00000293510			
chr16	90004871	90019890	16q24.3	16q24.3	620388	DBNDD1	Dysbindin domain-containing protein 1	DBNDD1	79007	ENSG00000003249			Dbndd1 (MGI:1919435)
chr16	90019633	90044960	16q24.3	16q24.3	605178	GAS8, GAS11, CILD33	Growth arrest-specific 8	GAS8	2622	ENSG00000141013		Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive	Gas8 (MGI:1202386)
chr16	90028908	90029901	16q24.3	16q24.3	605179	GAS8-AS1, C16orf3, EID1	GAS8 antisense RNA 1	GAS8-AS1	750	ENSG00000221819			
chr16	90039761	90047783	16q24.3	16q24.3	615805	URAHP, URAH	Urate (hydroxyiso-) hydrolase, pseudogene	URAHP	100130015	ENSG00000290738			
chr16	90056566	90077331	16q24.3	16q24.3	609759	PRDM7	PR domain-containing protein 7	PRDM7	11105	ENSG00000126856			Prdm9 (MGI:2384854)
chr16	1	90338345	Chr.16		133290	ESB3	Esterase-B3	ESB3	2097				
chr16	1	90338345	Chr.16		138060	GRLL1	Glucocorticoid receptor-like 1	NR3C1P1	2910	ENSG00000276393			
chr16	1	90338345	Chr.16		147573	IFNR	Interferon production regulator		3466				
chr16	1	90338345	Chr.16		247980	LIPB	Lipase B, lysosomal acid	LIPB	3989				
chr17	1	10800000	17p13		608631	ASPG2	Asperger syndrome, susceptibility to, 2		431711		breakpoints between CHRNE and GP1BA	{Asperger syndrome susceptibility 2}, 608631 (2), Multifactorial, Isolated cases	
chr17	1	3400000	17p13.3		113721	BCPR	Breast cancer-related regulator of TP53					Breast cancer (1)	
chr17	1	10800000	17p13		601202	CTRCT24, CTAA2	Cataract 24, anterior polar		1484			Cataract 24, anterior polar, 601202 (2), Autosomal dominant	
chr17	1	3400000	17p13.3		615674	DDD3	Dowling-Degos disease 3		102997065		max lod at D17S1529	Dowling-Degos disease 3, 615674 (2), Autosomal dominant	
chr17	1	3400000	17p13.3		613215	DUP17p13.3, C17DUPp13.3	Chromosome 17p13.3 duplication syndrome				includes LIS1 and/or YWHAE	Chromosome 17p13.3 duplication syndrome, 613215 (4), Autosomal dominant, Isolated cases	
chr17	1	3400000	17p13.3		247200	MDLS, MDS, MDCR, DEL17p13.3, C17DELp13.3	Miller-Dieker lissencephaly syndrome (chromosome 17p13.3 deletion syndrome)					Miller-Dieker lissencephaly syndrome, 247200 (4), Autosomal dominant	
chr17	1	10800000	17p13		605779	NDNC7	Nail disorder, nonsyndromic congenital, 7 (onychodysplasia, isolated congenital)		81866			Nail disorder, nonsyndromic congenital, 7, 605779 (2), Autosomal dominant	
chr17	1	10800000	17p13.3-p13.1		612576	SHFLD3, DUP17p13.3, C17DUPp13.3	Split-hand/foot malformation with long bone deficiency 3				max lod at or near D17S1533; contiguous gene duplication syndrome	Split-hand/foot malformation with long bone deficiency 3, 612576 (4), Autosomal dominant	
chr17	1	10800000	17p13		613498	SXGQTL1	Sex hormone-binding globulin circulating level quantitative trait locus 1		100528025		associated with rs1799941	[Sex hormone-binding globulin circulating level QTL 1], 613498 (2)	
chr17	142789	181650	17p13.3	17p13.3	604568	DOC2B	Double C2-like domain-containing protein, beta	DOC2B	8447	ENSG00000272636			Doc2b (MGI:1100497)
chr17	212389	352807	17p13.3	17p13.3	604881	RPH3AL, NOC2	Rabphilin 3A-like	RPH3AL	9501	ENSG00000181031			Rph3al (MGI:1923492)
chr17	439978	445940	17p13.3	17p13.3	615928	RFLNB, FAM101B, CFM1	Refilin B	RFLNB	359845	ENSG00000183688			Rflnb (MGI:1923816)
chr17	508668	714839	17p13.3	17p13.3	615850	VPS53, HCCS1, PCH2E	VPS53 subunit of GARP complex	VPS53	55275	ENSG00000141252		Pontocerebellar hypoplasia, type 2E, 615851 (3), Autosomal recessive	Vps53 (MGI:1915549)
chr17	732596	742968	17p13.3	17p13.3	611627	TLCD3A, FAM57A, CT120	TLC domain-containing protein 3A	TLCD3A	79850	ENSG00000167695			Tlcd3a (MGI:2151840)
chr17	744421	754410	17p13.3	17p13.3	606969	GEMIN4, NEDMCR	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	GEMIN4	50628	ENSG00000179409		Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3), Autosomal recessive	Gemin4 (MGI:2449313)
chr17	759330	785895	17p13.3	17p13.3	620650	GLOD4, C17orf25	Glyoxalase domain-containing protein 4	GLOD4	51031	ENSG00000167699			Glod4 (MGI:1914451)
chr17	782353	792509	17p13.3	17p13.3	612600	RNMTL1, HC90	RNA methyltransferase-like 1	MRM3	55178	ENSG00000171861			Mrm3 (MGI:1914640)
chr17	799310	979776	17p13.3	17p13.3	612895	NXN, RRS2	Nucleoredoxin	NXN	64359	ENSG00000167693		Robinow syndrome, autosomal recessive 2, 618529 (3), Autosomal recessive	Nxn (MGI:109331)
chr17	997129	1003671	17p13.3	17p13.3	607251	TIMM22, TIM22, COXPD43	Translocase of inner mitochondrial membrane 22	TIMM22	29928	ENSG00000177370	mutation identified in 1 COXPD43 patient	?Combined oxidative phosphorylation deficiency 43, 618851 (3), Autosomal recessive	Timm22 (MGI:1929742)
chr17	1003519	1229722	17p13.3	17p13.3	600365	ABR	ABR activator of RhoGEF and GTPase	ABR	29	ENSG00000159842			Abr (MGI:107771)
chr17	1270444	1271815	17p13.3	17p13.3	615416	BHLHA9, BHLHF42, MSSD, CCSPD	Basic helix-loop-helix family, member A9	BHLHA9	727857	ENSG00000205899	mutation identified in 1 CCSPD family	?Camptosynpolydactyly, complex, 607539 (3), Autosomal recessive; Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3), Autosomal recessive	Bhlha9 (MGI:2444198)
chr17	1279662	1300978	17p13.3	17p13.3	612211	TUSC5, LOST1	Tumor suppressor candidate 5	TRARG1	286753	ENSG00000184811			Trarg1 (MGI:3029307)
chr17	1344275	1400222	17p13.3	17p13.3	605066	YWHAE, MDCR, MDS	Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform	YWHAE	7531	ENSG00000108953			Ywhae (MGI:894689)
chr17	1420693	1456232	17p13.3	17p13.3	164762	CRK	Avian sarcoma virus CT10 (v-crk) oncogene homolog	CRK	1398	ENSG00000167193			Crk (MGI:88508)
chr17	1464186	1492686	17p13	17p13.3	606538	MYO1C	Myosin IC	MYO1C	4641	ENSG00000197879			Myo1c (MGI:106612)
chr17	1494577	1516612	17p13.3	17p13.3	607875	INPP5K, SKIP, MDCCAID	Inositol polyphosphate-5-phosphatase K	INPP5K	51763	ENSG00000132376		Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive	Inpp5k (MGI:1194899)
chr17	1517718	1562792	17p13.3	17p13.3	600174	PITPNA, PITPN	Phosphotidylinositol transfer protein, alpha	PITPNA	5306	ENSG00000174238			Pitpna (MGI:99887)
chr17	1569254	1630088	17p13.3	17p13.3	610791	SLC43A2, LAT4	Solute carrier family 43 (L-type amino acid transporter, member 2)	SLC43A2	124935	ENSG00000167703			Slc43a2 (MGI:2442746)
chr17	1633858	1645732	17p13.3	17p13.3	607873	SCARF1, SREC, KIAA0149	Scavenger receptor class F, member 1	SCARF1	8578	ENSG00000074660			Scarf1 (MGI:2449455)
chr17	1646150	1649866	17p13.3	17p13.3	607848	RILP	RAB-interacting lysosomal protein	RILP	83547	ENSG00000167705			Rilp (MGI:2144271)
chr17	1650629	1684867	17p13.3	17p13.3	607300	PRPF8, PRPC8, RP13	Pre-mRNA processing factor 8	PRPF8	10594	ENSG00000174231		Retinitis pigmentosa 13, 600059 (3), Autosomal dominant	Prpf8 (MGI:2179381)
chr17	1702816	1710377	17p13.3	17p13.3	620967	TLCD2	TLC domain-containing protein 2	TLCD2	727910	ENSG00000185561			Tlcd2 (MGI:1917141)
chr17	1713903	1713987	17p13.3	17p13.3	612077	MIR22, MIRN22	Micro RNA 22	MIR22	407004	ENSG00000283824			Mir22 (MGI:2676896)
chr17	1716523	1738585	17p13.3	17p13.3	614218	WDR81, CAMRQ2, HYC3	WD repeat-containing protein 81	WDR81	124997	ENSG00000167716		Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2, 610185 (3), Autosomal recessive; Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3), Autosomal recessive	Wdr81 (MGI:2681828)
chr17	1742871	1755265	17pter-p12	17p13.3	613168	PLI, SERPINF2	Alpha-2-plasmin inhibitor	SERPINF2	5345	ENSG00000167711		Alpha-2-plasmin inhibitor deficiency, 262850 (3), Autosomal recessive	Serpinf2 (MGI:107173)
chr17	1762060	1777565	17p13.3	17p13.3	172860	SERPINF1, PEDF, OI6	Serpin peptidase inhibitor, clade F, member 1	SERPINF1	5176	ENSG00000132386	same region as RP13	Osteogenesis imperfecta, type VI, 613982 (3), Autosomal recessive	Serpinf1 (MGI:108080)
chr17	1779485	1829902	17p13.3	17p13.3	619134	SMYD4	SET and MYND domain-containing protein 4	SMYD4	114826	ENSG00000186532			Smyd4 (MGI:2442796)
chr17	1830005	1900082	17p13.3	17p13.3	179835	RPA1, PFBMFT6	Replication protein A1, 70kD	RPA1	6117	ENSG00000132383		Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6, 619767 (3), Autosomal dominant	Rpa1 (MGI:1915525)
chr17	1934677	2025334	17p13.3	17p13.3	610461	RTN4RL1, NGRH2, NGR3	Reticulon 4 receptor-like 1	RTN4RL1	146760	ENSG00000185924			Rtn4rl1 (MGI:2661375)
chr17	2030112	2043898	17p13.3	17p13.3	603527	DPH1, DPH2L1, OVCA1, DEDSSH	Diphthamide biosynthesis protein 1	DPH1	1801	ENSG00000108963		Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 (3), Autosomal recessive	Dph1 (MGI:2151233)
chr17	2042022	2043425	17p13.3	17p13.3	607896	OVCA2	OVCA2 serine hydrolase domain-containing protein	OVCA2	124641	ENSG00000262664			Ovca2 (MGI:2179725)
chr17	2049908	2050008	17p13.3	17p13.3	610016	MIR132, MIRN132	Micro RNA 132	MIR132	406921	ENSG00000267200			Mir132 (MGI:2676817)
chr17	2050271	2050380	17p13.3	17p13.3	613487	MIR212, MIRN212	Micro RNA 212	MIR212	406994	ENSG00000267195			Mir212 (MGI:2676888)
chr17	2055103	2063241	17p13.3	17p13.3	603825	HIC1	Hypermethylated in cancer	HIC1	3090	ENSG00000177374			Hic1 (MGI:1338010)
chr17	2059839	2303785	17p13.3	17p13.3	610963	SMG6, EST1A, KIAA0732	SMG6 nonsense-mediated mRNA decay factor	SMG6	23293	ENSG00000070366			Smg6 (MGI:2144117)
chr17	2303378	2325264	17p13.3	17p13.3	606477	SRR	Serine racemase	SRR	63826	ENSG00000167720			Srr (MGI:1351636)
chr17	2322396	2336457	17p13.3	17p13.3	611214	TSR1, KIAA1401	TSR1, 20S r RNA accumulation, S. cerevisiae, homolog of	TSR1	55720	ENSG00000167721			Tsr1 (MGI:2144566)
chr17	2337501	2381054	17p13.3	17p13.3	611418	SGSM2, KIAA0397	Small G protein signaling modulator 2	SGSM2	9905	ENSG00000141258			Sgsm2 (MGI:2144695)
chr17	2384073	2401060	17p13.3	17p13.3	603039	MNT, ROX	MAX network transcriptional repressor	MNT	4335	ENSG00000070444			Mnt (MGI:109150)
chr17	2593183	2685615	17p13.3	17p13.3	601545	PAFAH1B1, LIS1	Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit	PAFAH1B1	5048	ENSG00000007168		Subcortical laminar heterotopia, 607432 (3), Autosomal dominant; Lissencephaly 1, 607432 (3), Autosomal dominant	Pafah1b1 (MGI:109520)
chr17	2689387	2712020	17p13.3	17p13.3	616184	CLUH, CLU1, KIAA0664	Clustered mitochondria, D. discoideum, homolog of	CLUH	23277	ENSG00000132361			Cluh (MGI:1921398)
chr17	2755645	3037741	17p13.3	17p13.3	618714	RAP1GAP2, GARNL4, KIAA1039	RAP1 GTPase-activating protein 2	RAP1GAP2	23108	ENSG00000132359			Rap1gap2 (MGI:3028623)
chr17	3088484	3104422	17p13.3	17p13.3	164342	OR1D2, OLFR1	Olfactory receptor, family 1, subfamily D, member 2	OR1D2	4991	ENSG00000184166	cluster of 16 genes in 350kb		Or1d2 (MGI:3030246)
chr17	3197519	3198448	17p13.3	17p13.3	618047	OR1A2	Olfactory receptor, family 1, subfamily A, member 2	OR1A2	26189	ENSG00000172150			Or1a1,Or1a1b (MGI:1333770,MGI:3030237)
chr17	3207667	3218896	17p13.3	17p13.3	618046	OR1A1	Olfactory receptor, family 1, subfamily A, member 1	OR1A1	8383	ENSG00000172146			Or1a1,Or1a1b (MGI:1333770,MGI:3030237)
chr17	3400001	10800000	17p13.2-p13.1		614341	MRT33	Intellectual developmental disorder, autosomal recessive 33		100852394		between rs1367950 and rs1826925	Intellectual developmental disorder, autosomal recessive 33, 614341 (2), Autosomal recessive	
chr17	3440019	3513858	17p13.2	17p13.2	617673	SPATA22, SPGF96, POF25	Spermatogenesis-associated protein 22	SPATA22	84690	ENSG00000141255		Premature ovarian failure 25, 621002 (3), Autosomal recessive; Spermatogenic failure 96, 621001 (3), Autosomal recessive	Spata22 (MGI:2685728)
chr17	3474110	3503405	17pter-p13	17p13.2	608034	ASPA	Aspartoacylase (aminoacylase-2)	ASPA	443	ENSG00000108381		Canavan disease, 271900 (3), Autosomal recessive	Aspa (MGI:87914)
chr17	3510502	3557812	17p13	17p13.2	607066	TRPV3, OLMS1, FNEPPK2	Transient receptor potential cation channel, subfamily V, member 3	TRPV3	162514	ENSG00000167723	mutation identified in 1 FNEPPK2 family	?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3), Autosomal dominant; Olmsted syndrome 1, 614594 (3), Autosomal dominant	Trpv3 (MGI:2181407)
chr17	3565446	3609411	17p13	17p13.2	602076	TRPV1, VR1	Transient receptor potential cation channel, subfamily V, member 1 (vanilloid receptor 1; capsaicin receptor)	TRPV1	7442	ENSG00000196689			Trpv1 (MGI:1341787)
chr17	3608240	3636250	17p13	17p13.2	605060	SHPK, CARKL	Sedoheptulokinase	SHPK	23729	ENSG00000197417		[Sedoheptulokinase deficiency], 617213 (3), Autosomal recessive	Shpk (MGI:1921887)
chr17	3636459	3663103	17p13	17p13.2	606272	CTNS	Cystinosin	CTNS	1497	ENSG00000040531	?3 allelic forms	Cystinosis, nephropathic, 219800 (3), Autosomal recessive; Cystinosis, ocular nonnephropathic, 219750 (3), Autosomal recessive; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3), Autosomal recessive; Cystinosis, atypical nephropathic, 219800 (3), Autosomal recessive	Ctns (MGI:1932872)
chr17	3662895	3668578	17p13	17p13.2	616484	TAX1BP3, TIP1	TAX1-binding protein 3	TAX1BP3	30851	ENSG00000213977			Tax1bp3 (MGI:1923531)
chr17	3668812	3669665	17p13.2	17p13.2	620261	EMC6	Endoplasmic reticulum membrane protein complex, subunit 6	EMC6	83460	ENSG00000127774			Emc6 (MGI:1913298)
chr17	3673227	3723835	17p13.2	17p13.2	602836	P2RX5	Purinergic receptor P2X, ligand-gated ion channel, 5	P2RX5	5026	ENSG00000083454			P2rx5 (MGI:2137026)
chr17	3714628	3801188	17p13	17p13.2	604682	ITGAE, CD103	Integrin, alpha-E	ITGAE	3682	ENSG00000083457			Itgae (MGI:1298377)
chr17	3723903	3726699	17p13.2	17p13.2	609240	HASPIN, GSG2	Histone H3-associated protein kinase	HASPIN	83903	ENSG00000177602			Haspin (MGI:1194498)
chr17	3802158	3846246	17p13.2	17p13.2	616624	NCBP3, C17orf85	Nuclear cap-binding protein 3	NCBP3	55421	ENSG00000074356			Ncbp3 (MGI:1914124)
chr17	3860315	3893053	17p13.2	17p13.2	611411	CAMKK1, CAMKKA	Calcium/calmodulin-dependent protein kinase kinase 1, alpha	CAMKK1	84254	ENSG00000004660			Camkk1 (MGI:1891766)
chr17	3896592	3916465	17p13.3	17p13.2	600845	P2RX1, P2X1	Purinergic receptor P2X, ligand-gated ion channel, 1	P2RX1	5023	ENSG00000108405			P2rx1 (MGI:1098235)
chr17	3923873	3964437	17p13.3	17p13.2	601929	ATP2A3, SERCA3	ATPase, Ca(2+)-transporting, ubiquitous	ATP2A3	489	ENSG00000074370			Atp2a3 (MGI:1194503)
chr17	4004445	4143030	17p13.2	17p13.2	619459	ZZEF1, KIAA0399	Zinc finger ZZ-type domain- and EF-hand domain-containing protein 1	ZZEF1	23140	ENSG00000074755			Zzef1 (MGI:2444286)
chr17	4163821	4263979	17p13.2	17p13.2	607927	ANKFY1, ANKHZN, KIAA1255	Ankyrin repeats- and FYVE domain-containing protein 1	ANKFY1	51479	ENSG00000185722			Ankfy1 (MGI:1337008)
chr17	4269259	4366675	17p13.2	17p13.2	601569	UBE2G	Ubiquitin-conjugating enzyme E2 G1	UBE2G1	7326	ENSG00000132388	possible pseudogene on 1q42		Ube2g1 (MGI:1914378)
chr17	4433940	4488204	17p13.2	17p13.2	611701	SPNS3	Spinster, Drosophila, homolog of, 3	SPNS3	201305	ENSG00000182557			Spns3 (MGI:1924827)
chr17	4498881	4539035	17p13.2	17p13.2	612584	SPNS2, DFNB115	Sphingolipid transporter 2	SPNS2	124976	ENSG00000183018	mutation identified in 1 DFNB115 patient	?Deafness, autosomal recessive 115, 618457 (3), Autosomal recessive	Spns2 (MGI:2384936)
chr17	4538904	4555384	17p13.3	17p13.2	604885	MYBBP1A, P160	MYB-binding protein 1A	MYBBP1A	10514	ENSG00000132382			Mybbp1a (MGI:106181)
chr17	4556140	4560577	17p13.2	17p13.2	612341	GGT6	Gamma-glutamyltransferase 6	GGT6	124975	ENSG00000167741			Ggt6 (MGI:1918772)
chr17	4630919	4641678	17p13.3	17p13.2	152392	ALOX15	Arachidonate 15-lipoxygenase	ALOX15	246	ENSG00000161905			Alox15 (MGI:87997)
chr17	4669774	4704137	17p13.3	17p13.2	609455	PELP1, MNAR	Proline-, glutamic acid-, and leucine-rich protein 1	PELP1	27043	ENSG00000141456			Pelp1 (MGI:1922523)
chr17	4710632	4721497	17p13	17p13.2	107941	ARRB2	Arrestin, beta 2	ARRB2	409	ENSG00000141480			Arrb2 (MGI:99474)
chr17	4731428	4733607	17p13.2	17p13.2	612383	MED11, NDDRSB	Mediator complex subunit 11	MED11	400569	ENSG00000161920		Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, 620327 (3), Autosomal recessive	Med11 (MGI:1913422)
chr17	4733533	4739928	17p13	17p13.2	605398	CXCL16	CXC chemokine ligand-16	CXCL16	58191	ENSG00000161921			Cxcl16 (MGI:1932682)
chr17	4739833	4746119	17p13.2	17p13.2	614312	ZMYND15, SPGF14	Zinc finger MYND-containing protein 15	ZMYND15	84225	ENSG00000141497	mutation identified in 1 SPGF14 family	?Spermatogenic failure 14, 615842 (3), Autosomal recessive	Zmynd15 (MGI:3603821)
chr17	4771886	4783211	17p13.3	17p13.2	604657	TM4SF5	Transmembrane 4 superfamily, member 5	TM4SF5	9032	ENSG00000142484			Tm4sf5 (MGI:1922854)
chr17	4785285	4786364	17p13.2	17p13.2	621110	VMO1	Vitelline membrane outer layer protein 1 homolog	VMO1	284013	ENSG00000182853			
chr17	4788964	4790589	17p13.2	17p13.2	620824	GLTPD2	Glycolipid transfer protein domain-containing protein 2	GLTPD2	388323	ENSG00000182327			Gltpd2 (MGI:2444527)
chr17	4796164	4798495	17p13.2	17p13.2	600307	PSMB6, LMPY	Proteasome subunit, beta-type, 6	PSMB6	5694	ENSG00000142507			Psmb6 (MGI:104880)
chr17	4807152	4823430	17p13.1	17p13.2	602384	PLD2	Phospholipase D2	PLD2	5338	ENSG00000129219			Pld2 (MGI:892877)
chr17	4833340	4898061	17p13.1	17p13.2	609426	MINK1, MINK	Misshapen/nik-related kinase 1	MINK1	50488	ENSG00000141503			Mink1 (MGI:1355329)
chr17	4897771	4908677	17p13-p12	17p13.2	100725	CHRNE, SCCMS, CMS4A, CMS4B, CMS4C	Cholinergic receptor, nicotinic, epsilon polypeptide	CHRNE	1145	ENSG00000108556		Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3), Autosomal recessive, Autosomal dominant; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3), Autosomal recessive; Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3), Autosomal recessive	Chrne (MGI:87894)
chr17	4932277	4935023	17pter-p12	17p13.2	606672	GP1BA, BSS, BDPLT1, VWDP, BDPLT3	Glycoprotein Ib, platelet, alpha polypeptide	GP1BA	2811	ENSG00000185245		Bernard-Soulier syndrome, type A1 (recessive), 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type A2 (dominant), 153670 (3), Autosomal dominant; von Willebrand disease, platelet-type, 177820 (3), Autosomal dominant; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3), Autosomal recessive	Gp1ba (MGI:1333744)
chr17	4937130	4940046	17p13.3	17p13.2	604165	SLC25A11, SLC20A4, OGC, PPGL6	Solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	SLC25A11	8402	ENSG00000108528		Pheochromocytoma/paraganglioma syndrome 6, 618464 (3), Autosomal dominant	Slc25a11 (MGI:1915113)
chr17	4940092	4945222	17p13.2	17p13.2	610431	RNF167, RING105	RING finger protein 167	RNF167	26001	ENSG00000108523			Rnf167 (MGI:1917760)
chr17	4945652	4948530	17p13.3	17p13.2	176610	PFN1, ALS18	Profilin-1	PFN1	5216	ENSG00000108518		Amyotrophic lateral sclerosis 18, 614808 (3)	Pfn1 (MGI:97549)
chr17	4948710	4957129	17pter-p12	17p13.2	131370	ENO3, GSD13	Enolase-3, beta, muscle	ENO3	2027	ENSG00000108515		Glycogen storage disease XIII, 612932 (3), Autosomal recessive	Eno3 (MGI:95395)
chr17	4959226	4967817	17p13.2	17p13.2	610056	SPAG7	Sperm-associated antigen 7	SPAG7	9552	ENSG00000091640			Spag7 (MGI:107380)
chr17	4967997	4987675	17p13.2	17p13.2	611508	CAMTA2, KIAA0909	Calmodulin-binding transcription activator 2	CAMTA2	23125	ENSG00000108509			Camta2 (MGI:2135957)
chr17	4988130	4997522	17p13	17p13.2	617374	INCA1, HSD45	Inhibitor of CDK, cyclin A1-interacting protein 1	INCA1	388324	ENSG00000196388			Inca1 (MGI:2144284)
chr17	4997950	5028401	17p13.2	17p13.2	603060	KIF1C, LTXS1, KIAA0706, SPAX2	Kinesin family member 1C	KIF1C	10749	ENSG00000129250		Spastic ataxia 2, autosomal recessive, 611302 (3), Autosomal recessive	Kif1c (MGI:1098260)
chr17	5032602	5042414	17p13.2	17p13.2	607883	SLC52A1, GPR172B, GPCR42, PAR2, FLJ10060, RBFVD	Solute carrier family 52, riboflavin transporter, member 1	SLC52A1	55065	ENSG00000132517		Riboflavin deficiency, 615026 (3), Autosomal dominant	Slc52a2 (MGI:1289288)
chr17	5078467	5096374	17pter-p12	17p13.2	194480	ZFP3	Zinc finger protein-3	ZFP3	124961	ENSG00000180787	probably in cluster with ZNF29 proximal to TP53		Zfp3 (MGI:99177)
chr17	5105734	5123116	17p13.2	17p13.2	616463	ZNF232, ZSCAN11	Zinc finger protein 232	ZNF232	7775	ENSG00000167840			
chr17	5116032	5174991	17p13	17p13.2	604334	USP6, TRE2	Ubiquitin-specific protease 6	USP6	9098	ENSG00000129204			
chr17	5208920	5234860	17p13.2	17p13.2	614406	SCIMP, C17orf87	SLP adaptor- and CSK-interacting membrane protein	SCIMP	388325	ENSG00000161929			Scimp (MGI:3610314)
chr17	5282284	5386340	17p13	17p13.2	603616	RABEP1, RABPT5	RAB GTPase-binding effector protein 1	RABEP1	9135	ENSG00000029725	fused to PDGFRB in CMML		Rabep1 (MGI:1860236)
chr17	5384833	5419662	17p13	17p13.2	602552	NUP88, FADS4	Nucleoporin, 88-kD	NUP88	4927	ENSG00000108559		Fetal akinesia deformation sequence 4, 618393 (3), Autosomal recessive	Nup88 (MGI:104900)
chr17	5420182	5432877	17p13	17p13.2	617299	RPAIN, RIP	RPA-interacting protein	RPAIN	84268	ENSG00000129197			Rpain (MGI:1916973)
chr17	5432777	5439155	17p13.3	17p13.2	601269	C1QBP, HABP1, COXPD33	Complement component C1q binding protein (hyaluronic acid-binding protein 1)	C1QBP	708	ENSG00000108561		Combined oxidative phosphorylation deficiency 33, 617713 (3), Autosomal recessive	C1qbp (MGI:1194505)
chr17	5440917	5468982	17p13.2	17p13.2	614405	DHX33	DEAH-box helicase 33	DHX33	56919	ENSG00000005100			Dhx33 (MGI:2445102)
chr17	5471254	5486817	17p13.2	17p13.2	610304	DERL2	DER1-like domain family, member 2	DERL2	51009	ENSG00000072849			Derl2 (MGI:2151483)
chr17	5486374	5490811	17p13.2	17p13.2	609178	MIS12	MIS12 kinetochore complex component	MIS12	79003	ENSG00000167842			Mis12 (MGI:1914389)
chr17	5501396	5584509	17p13	17p13.2	606636	NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, VAMAS1, MSPC, AIADK, JRRP	NLR family, pyrin domain containing 1	NLRP1	22861	ENSG00000091592	mutation identified in 1 JRRP family	{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3); ?Respiratory papillomatosis, juvenile recurrent, congenital, 618803 (3), Autosomal recessive; Autoinflammation with arthritis and dyskeratosis, 617388 (3), Autosomal recessive, Autosomal dominant; Palmoplantar carcinoma, multiple self-healing, 615225 (3), Autosomal dominant	Nlrp1a,Nlrp1b (MGI:2684861,MGI:3582959)
chr17	6069116	6124427	17p13.2	17p13.2	619584	WSCD1, KIAA0523	WSC domain-containing protein 1	WSCD1	23302	ENSG00000179314			Wscd1 (MGI:2448493)
chr17	6423738	6435121	17p13.1	17p13.2	604392	AIPL1, LCA4	Arylhydrocarbon-interacting receptor protein-like 1	AIPL1	23746	ENSG00000129221	LCA1 due to GUCY2D mutation also on 17p13.1	Leber congenital amaurosis 4, 604393 (3), Autosomal recessive, Autosomal dominant; Retinitis pigmentosa, juvenile, 604393 (3), Autosomal recessive, Autosomal dominant; Cone-rod dystrophy, 604393 (3), Autosomal recessive, Autosomal dominant	Aipl1 (MGI:2148800)
chr17	6444455	6451469	17p13.2	17p13.2	617611	PIMREG, RCS1, FAM64A	PICALM-interacting mitotic regulator	PIMREG	54478	ENSG00000129195			Pimreg (MGI:1924434)
chr17	6451263	6556555	17p13.1	17p13.2-p13.1	608921	PITPNM3, NIR1, CORD5	Phosphatidylinositol transfer protein, membrane-associated, 3	PITPNM3	83394	ENSG00000091622		Cone-rod dystrophy 5, 600977 (3), Autosomal dominant	Pitpnm3 (MGI:2685726)
chr17	6500001	10800000	17p13.1		613776	DEL17p13.1, C17DELp13.1	Chromosome 17p13.1 deletion syndrome				contiguous gene deletion syndrome	Chromosome 17p13.1 deletion syndrome, 613776 (4), Autosomal dominant	
chr17	6500001	10800000	17p13.1		610208	MGR10	Migraine with or without aura, susceptibility to, 10		117204002			{Migraine with or without aura, susceptibility to, 10}, 610208 (2), Autosomal dominant	
chr17	6500001	83257441	17p13.1-q25		600720	NOS2P1, NOS2C	Nitric oxide synthase 2 pseudogene 1	NOS2P1	645740	ENSG00000297633			
chr17	6578147	6640711	17p13.1	17p13.1	617112	KIAA0753, OFIP, OFD15, JBTS38, SRTD21	KIAA0753 gene	KIAA0753	9851	ENSG00000198920	mutation identified in 1 OFD15 patient and 1 JBTS38 family	?Orofaciodigital syndrome XV, 617127 (3), Autosomal recessive; ?Joubert syndrome 38, 619476 (3), Autosomal recessive; Short-rib thoracic dysplasia 21 without polydactyly, 619479 (3), Autosomal recessive	4933427D14Rik (MGI:1921727)
chr17	6641060	6644541	17p13.1	17p13.1	616967	TXNDC17, TRP14, TXNL5	Thioredoxin domain-containing protein 17	TXNDC17	84817	ENSG00000129235			Txndc17 (MGI:1289248)
chr17	6643311	6651605	17p13.1	17p13.1	620492	MED31, SOH1, SEP10	Mediator complex subunit 31	MED31	51003	ENSG00000108590			Med31 (MGI:1914529)
chr17	6684719	6713369	17p13-p12	17p13.1	608305	SLC13A5, NACT, DEE25	Solute carrier family 13 (sodium-dependent citrate transporter), member 5	SLC13A5	284111	ENSG00000141485		Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta, 615905 (3), Autosomal recessive	Slc13a5 (MGI:3037150)
chr17	6755447	6775647	17p13.2	17p13.1	606717	XAF1	XIAP-associated factor 1	XAF1	54739	ENSG00000132530			Xaf1 (MGI:3772572)
chr17	6776215	6787646	17p13.2	17p13.1	609106	FBXO39, FBX39	F-box protein 39	FBXO39	162517	ENSG00000177294			Fbxo39 (MGI:3505735)
chr17	6797993	6831729	17p13.1	17p13.1	609002	TEKT1	Tektin 1	TEKT1	83659	ENSG00000167858			Tekt1 (MGI:1333819)
chr17	6996049	7010754	17p13.1	17p13.1	152391	ALOX12	Arachidonate 12-lipoxygenase	ALOX12	239	ENSG00000108839	pseudogene also on chr.17		Alox12 (MGI:87998)
chr17	7012624	7014532	17p13.1	17p13.1	617098	RNASEK	Ribonuclease K	RNASEK	440400	ENSG00000219200			Rnasek (MGI:106369)
chr17	7014782	7017520	17p13.1	17p13.1	617215	C17orf49, BAP18	Chromosome 17 open reading frame 49	BACC1	124944	ENSG00000258315			Bacc1 (MGI:1915609)
chr17	7017615	7017701	17p13.1	17p13.1	610718	MIR195, MIRN195	Micro RNA 195	MIR195	406971	ENSG00000284112			Mir195a (MGI:2676859)
chr17	7017911	7018022	17p13.1	17p13.1	615672	MIR497	Micro RNA 497	MIR497	574456	ENSG00000284027			Mir497 (MGI:3629886)
chr17	7023050	7029644	17p13.1	17p13.1	608992	BCL6B, BAZF	BCL6B transcription repressor	BCL6B	255877	ENSG00000161940			Bcl6b (MGI:1278332)
chr17	7041621	7044092	17p13.2	17p13.1	615765	SLC16A11, MCT11	Solute carrier family 16, member 11	SLC16A11	162515	ENSG00000174326			Slc16a11 (MGI:2663709)
chr17	7074537	7080251	17p13.1	17p13.1	605999	CLEC10A, CLECSF14, MGL, HML, CD301	C-type lectin domain family 10, member A	CLEC10A	10462	ENSG00000132514			Clec10a,Mgl2 (MGI:2385729,MGI:96975)
chr17	7101322	7115146	17p	17p13.1	108361	ASGR2	Asialoglycoprotein receptor-2	ASGR2	433	ENSG00000161944			Asgr2 (MGI:88082)
chr17	7173431	7179370	17p13-p11	17p13.1	108360	ASGR1	Asialoglycoprotein receptor-1	ASGR1	432	ENSG00000141505			Asgr1 (MGI:88081)
chr17	7187187	7220050	17p13.1	17p13.1	602887	DLG4, PSD95, SAP90, MRD62	Discs large MAGUK scaffold protein 4	DLG4	1742	ENSG00000132535		Intellectual developmental disorder, autosomal dominant 62, 618793 (3), Autosomal dominant	Dlg4 (MGI:1277959)
chr17	7217125	7225266	17p13	17p13.1	609575	ACADVL, VLCAD	Acyl-Coenzyme A dehydrogenase, very long chain	ACADVL	37	ENSG00000072778		VLCAD deficiency, 201475 (3), Autosomal recessive	Acadvl (MGI:895149)
chr17	7225342	7234517	17p13.1	17p13.1	602151	DVL2	Dishevelled 2	DVL2	1856	ENSG00000004975			Dvl2 (MGI:106613)
chr17	7235038	7240828	17p13	17p13.1	612910	PHF23	PHD finger protein 23	PHF23	79142	ENSG00000040633			Phf23 (MGI:1925496)
chr17	7240008	7242449	17p13.1	17p13.1	605125	GABARAP	GABA-A receptor-associated protein	GABARAP	11337	ENSG00000170296			Gabarap (MGI:1861742)
chr17	7243591	7251978	17p13.1	17p13.1	610684	CTDNEP1, DULLARD	C-terminal domain nuclear envelope phosphatase 1	CTDNEP1	23399	ENSG00000175826			Ctdnep1 (MGI:1914431)
chr17	7251724	7259940	17p13.1	17p13.1	615019	ELP5, DERP6, C17orf81	Elongator acetyltransferase complex, subunit 5	ELP5	23587	ENSG00000170291			Elp5 (MGI:1859017)
chr17	7259903	7263213	17p13.1	17p13.1	609131	CLDN7	Claudin 7	CLDN7	1366	ENSG00000181885			Cldn7 (MGI:1859285)
chr17	7281718	7288257	17p13	17p13.1	138190	SLC2A4, GLUT4	Solute carrier family 2 (facilitated glucose transporter), member 4	SLC2A4	6517	ENSG00000181856			Slc2a4 (MGI:95758)
chr17	7288263	7294639	17p13.1	17p13.1	611447	YBX2, MSY2, CSDA3, DBPC	Y box-binding protein 2	YBX2	51087	ENSG00000006047			Ybx2 (MGI:1096372)
chr17	7306999	7312463	17p13-p12	17p13.1	600187	EIF5A, FABAS	Eukaryotic translation initiation factor-5A	EIF5A	1984	ENSG00000132507		Faundes-Banka syndrome, 619376 (3), Autosomal dominant	Eif5a (MGI:106248)
chr17	7312661	7315360	17p13.1	17p13.1	601935	GPS2	G protein pathway suppressor 2	GPS2	2874	ENSG00000132522			Gps2 (MGI:1891751)
chr17	7315628	7329335	17p13.1	17p13.1	615865	NEURL4, KIAA1787	Neuralized E3 ubiquitin protein ligase 4	NEURL4	84461	ENSG00000215041			Neurl4 (MGI:1921092)
chr17	7336529	7351477	Chr.17	17p13.1	607763	CENTB1, KIAA0050, ACAP1	Centaurin, beta-1	ACAP1	9744	ENSG00000072818			Acap1 (MGI:2388270)
chr17	7352162	7354944	17p13.2	17p13.1	609848	KCTD11, REn	Potassium channel tetramerization domain-containing protein 11	KCTD11	147040	ENSG00000213859			Kctd11 (MGI:2448712)
chr17	7355156	7357219	17p13.1	17p13.1	617814	TMEM95	Transmembrane protein 95	TMEM95	339168	ENSG00000182896			Tmem95 (MGI:3779488)
chr17	7380047	7389742	17p13.1	17p13.1	608076	TNK1	Tyrosine kinase, nonreceptor, 1	TNK1	8711	ENSG00000174292			Tnk1 (MGI:1930958)
chr17	7389727	7394525	17p13.1	17p13.1	607611	PLSCR3	Phospholipid scramblase 3	PLSCR3	57048	ENSG00000187838			Plscr3 (MGI:1917560)
chr17	7402975	7404097	17p13.1	17p13.1	617779	TMEM256, C17orf61	Transmembrane protein 256	TMEM256	254863	ENSG00000205544			Tmem256 (MGI:1916436)
chr17	7404653	7419860	Chr.17	17p13.1	606479	NLGN2, KIAA1366	Neuroligin 2	NLGN2	57555	ENSG00000169992			Nlgn2 (MGI:2681835)
chr17	7420324	7421632	17p13.1	17p13.1	615116	SPEM1, C17orf83	Spermatid maturation protein 1	SPEM1	374768	ENSG00000181323			Spem1 (MGI:1921538)
chr17	7435435	7437679	17p13.1	17p13.1	613936	TMEM102, CBAP	Transmembrane protein 102	TMEM102	284114	ENSG00000181284			Tmem102 (MGI:1921591)
chr17	7438298	7444937	17q21	17p13.1	601514	FGF11, FHF3	Fibroblast growth factor-11	FGF11	2256	ENSG00000161958			Fgf11 (MGI:109167)
chr17	7445061	7457710	17p12-p11	17p13.1	100710	CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C	Cholinergic receptor, nicotinic, beta polypeptide-1, muscle	CHRNB1	1140	ENSG00000170175	mutation identified in 1 CMS2C family	?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3), Autosomal recessive; Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3), Autosomal dominant	Chrnb1 (MGI:87890)
chr17	7459378	7484249	17p13.1	17p13.1	612308	ZBTB4, KIAA1538	Zinc finger and BTB domain-containing 4	ZBTB4	57659	ENSG00000174282			Zbtb4 (MGI:1922830)
chr17	7484366	7514616	17p13.1	17p13.1	180660	POLR2A, RPOL2, NEDHIB	Polymerase (RNA) II (DNA directed) polypeptide A, 220kD	POLR2A	5430	ENSG00000181222		Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 (3), Autosomal dominant	Polr2a (MGI:98086)
chr17	7549058	7557881	17p13.3	17p13.1	602695	TNFSF12, TWEAK, APO3L, DR3LG	Tumor necrosis factor ligand superfamily, member 12	TNFSF12	8742	ENSG00000239697			Tnfsf12 (MGI:1196259)
chr17	7558282	7561601	17p13.1	17p13.1	604472	TNFSF13, APRIL, TALL2	Tumor necrosis factor ligand superfamily, member 13	TNFSF13	8741	ENSG00000161955			Tnfsf13 (MGI:1916833)
chr17	7561919	7571969	17p13.1	17p13.1	612844	SENP3	Sentrin-specific protease family, member 3	SENP3	26168	ENSG00000161956			Senp3 (MGI:2158736)
chr17	7572825	7579006	17p13	17p13.1	602641	EIF4A1, DDX2A	Eukaryotic translation initiation factor 4A, isoform 1	EIF4A1	1973	ENSG00000161960			Eif4a1 (MGI:95303)
chr17	7579638	7582111	17p13	17p13.1	153634	CD68	Macrophage antigen CD68 (macrosialin)	CD68	968	ENSG00000129226			Cd68 (MGI:88342)
chr17	7583647	7588212	17p13.1-p12	17p13.1	604041	MPDU1, SL15, CDGIF	Mannose-P-dolichol utilization defect 1	MPDU1	9526	ENSG00000129255		Congenital disorder of glycosylation, type If, 609180 (3), Autosomal recessive	Mpdu1 (MGI:1346040)
chr17	7588178	7590094	17p13	17p13.1	601297	SOX15, SOX20	SRY (sex-determining region Y)-box 15	SOX15	6665	ENSG00000129194			Sox15 (MGI:98363)
chr17	7591230	7614897	17p13.1	17p13.1	605339	FXR2	FMR1 autosomal homolog 2	FXR2	9513	ENSG00000129245			Fxr2 (MGI:1346074)
chr17	7614064	7633372	17p13-p12	17p13.1	182205	SHBG, ABP	Sex hormone-binding globulin (androgen binding protein)	SHBG	6462	ENSG00000129214			Shbg (MGI:98295)
chr17	7626234	7627876	17p13.1	17p13.1	611463	SAT2, SSAT2	Spermidine/spermine N(1)-acetyltransferase 2	SAT2	112483	ENSG00000141504			Sat2 (MGI:1916465)
chr17	7646627	7657770	17p	17p13.1	182331	ATP1B2, AMOG	ATPase, Na+K+ transporting, beta-2 polypeptide	ATP1B2	482	ENSG00000129244			Atp1b2 (MGI:88109)
chr17	7668421	7687490	17p13.1	17p13.1	191170	TP53, P53, LFS1 , BCC7, BMFS5	Tumor protein p53	TP53	7157	ENSG00000141510		{Basal cell carcinoma 7}, 614740 (3), Autosomal dominant; {Adrenocortical carcinoma, pediatric}, 202300 (3), Autosomal dominant; Hepatocellular carcinoma, somatic, 114550 (3); Breast cancer, somatic, 114480 (3); Li-Fraumeni syndrome, 151623 (3), Autosomal dominant; Pancreatic cancer, somatic, 260350 (3); Nasopharyngeal carcinoma, somatic, 607107 (3); {Osteosarcoma}, 259500 (3), Somatic mutation; {Choroid plexus papilloma}, 260500 (3), Autosomal dominant; {Colorectal cancer}, 114500 (3), Somatic mutation, Autosomal dominant; {Glioma susceptibility 1}, 137800 (3), Somatic mutation, Autosomal dominant; Bone marrow failure syndrome 5, 618165 (3), Autosomal dominant	Trp53 (MGI:98834)
chr17	7686071	7703502	17p13	17p13.1	612661	WRAP53, TCAB1, WDR79, DKCB3	WD repeat-containing protein antisense to TP53	WRAP53	55135	ENSG00000141499		Dyskeratosis congenita, autosomal recessive 3, 613988 (3), Autosomal recessive	Wrap53 (MGI:2384933)
chr17	7705202	7711372	17p13.1-p11.2	17p13.1	602297	EFNB3, EPLG8, LERK8, EFL6	Ephrin B3	EFNB3	1949	ENSG00000108947			Efnb3 (MGI:109196)
chr17	7717744	7833742	17p13	17p13.1	603333	DNAH2, DNAHC2, SPGF45	Dynein, axonemal, heavy chain-2	DNAH2	146754	ENSG00000183914		Spermatogenic failure 45, 619094 (3), Autosomal recessive	Dnah2 (MGI:107731)
chr17	7834217	7854796	17p13.1	17p13.1	611577	KDM6B, JMJD3, KIAA0346, NEDSST	Lysine demethylase 6B	KDM6B	23135	ENSG00000132510		Stolerman neurodevelopmental syndrome, 618505 (3), Autosomal dominant	Kdm6b (MGI:2448492)
chr17	7855066	7856099	17p13.1	17p13.1	617813	TMEM88	Transmembrane protein 88	TMEM88	92162	ENSG00000167874			Tmem88 (MGI:1914270)
chr17	7856685	7885420	17p13.1	17p13.1	617990	NAA38, LSMD1, MAK31	N-alpha-acetyltransferase 38, NatC auxiliary subunit	NAA38	84316	ENSG00000183011			Naa38 (MGI:1925554)
chr17	7884796	7912755	17p13	17p13.1	602120	CHD3, SNIBCPS	Chromodomain helicase DNA binding protein-3	CHD3	1107	ENSG00000170004		Snijders Blok-Campeau syndrome, 618205 (3), Autosomal dominant	Chd3 (MGI:1344395)
chr17	7921859	7929856	17p13.1	17p13.1	604111	KCNAB3, KCNA3B	Potassium voltage-gated channel, shaker-related subfamily, beta member 3	KCNAB3	9196	ENSG00000170049			Kcnab3 (MGI:1336208)
chr17	7930345	7931999	17p13	17p13.1	610969	TRAPPC1, MUM2, BET5	Trafficking protein particle complex, subunit 1	TRAPPC1	58485	ENSG00000170043			Trappc1 (MGI:1098727)
chr17	7932081	7949920	17p13.1	17p13.1	611425	CNTROB, LIP8	Centrobin, centriole duplication and spindle assembly protein	CNTROB	116840	ENSG00000170037			Cntrob (MGI:2443290)
chr17	8002615	8020342	17p13.1	17p13.1	600179	GUCY2D, GUC2D, LCA1, CORD6, RCD2, CACD1, CSNB1I	Guanylate cyclase 2D, retinal	GUCY2D	3000	ENSG00000132518	mutation identified in 1 CACD1 family	Cone-rod dystrophy 6, 601777 (3), Autosomal recessive, Autosomal dominant; ?Choroidal dystrophy, central areolar 1, 215500 (3), Autosomal dominant; Leber congenital amaurosis 1, 204000 (3), Autosomal recessive; Night blindness, congenital stationary, type 1I, 618555 (3), Autosomal recessive	Gucy2e (MGI:105123)
chr17	8039059	8049134	17p13.1	17p13.1	603697	ALOX15B	Arachidonate 15-lipoxygenase, second type	ALOX15B	247	ENSG00000179593			Alox8 (MGI:1098228)
chr17	8072636	8087716	17p13.1	17p13.1	603741	ALOX12B, ARCI2	Archidonate 12-lipoxygenase, R type	ALOX12B	242	ENSG00000179477		Ichthyosis, congenital, autosomal recessive 2, 242100 (3), Autosomal recessive	Alox12b (MGI:1274782)
chr17	8095900	8118916	17p13.1	17p13.1	607206	ALOXE3, ARCI3	Arachidonate lipoxygenase 3	ALOXE3	59344	ENSG00000179148		Ichthyosis, congenital, autosomal recessive 3, 606545 (3), Autosomal recessive	Aloxe3 (MGI:1345140)
chr17	8119155	8119227	17p13.1	17p13.1	189918	TRNAK1, TRK1, TRK-TTT3-5	Transfer RNA lysine (TTT) 3-5	TRK-TTT3-5	7206				
chr17	8119752	8119823	17p13.1	17p13.1	189919	TRQ-CTG1-5, TRNAQ1, TRQ1	tRNA glutamine (anticodon CTG) 1-5	TRQ-CTG1-5	7228				
chr17	8120314	8120395	17p13.1	17p13.1	189920	TRNAL2, TRL2	tRNA leucine-2	TRL-TAG1-1	7208				
chr17	8120592	8126634	17p13.2	17p13.1	608059	HES7, SCDO4	Hes family bHLH transcription factor 7	HES7	84667	ENSG00000179111		Spondylocostal dysostosis 4, autosomal recessive, 613686 (3), Autosomal recessive	Hes7 (MGI:2135679)
chr17	8120925	8121012	17p13.1	17p13.1	610406	TRR-TCT2-1, TRNAR1, TRR1	tRNA arginine (anticodon TCT) 2-1	TRR-TCT2-1	7230				
chr17	8125746	8125816	17p13.1	17p13.1	610407	TRG-GCC2-6, TRNAG2, TRG2	tRNA glycine (anticodon GCC) 2-6	TRG-GCC2-6	7196		at least 8 copies in this region		
chr17	8140472	8152404	17p12	17p13.1	602260	PER1, PER, RIGUI	Period circadian regulator 1	PER1	5187	ENSG00000179094			Per1 (MGI:1098283)
chr17	8159147	8162948	17p12	17p13.1	185881	VAMP2, SYB2, NEDHAHM	Vesicle-associated membrane protein-2 (synaptobrevin-2)	VAMP2	6844	ENSG00000220205		Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, 618760 (3), Autosomal dominant	Vamp2 (MGI:1313277)
chr17	8172457	8176380	17p13.1	17p13.1	616183	TMEM107, MKS13, JBTS29	Transmembrane protein 107	TMEM107	84314	ENSG00000179029	mutation identified in 1 JBTS29	Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive; Meckel syndrome 13, 617562 (3), Autosomal recessive; ?Joubert syndrome 29, 617562 (3), Autosomal recessive	Tmem107 (MGI:1914160)
chr17	8173452	8173588	17p13.1	17p13.1	616663	SNORD118, LCC	Small nucleolar RNA,  C/D box, 118	SNORD118	727676	ENSG00000200463		Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive	
chr17	8188345	8190180	17p13.1	17p13.1	616599	BORCS6, C17orf59, LYSPERSIN	BLOC1-related complex, subunit 6	BORCS6	54785	ENSG00000196544			Borcs6 (MGI:1919173)
chr17	8204731	8210575	17p13.1	17p13.1	604970	STK12, ARK2, AIK2, AIM1	Serine/threonine protein kinase 12	AURKB	9212	ENSG00000178999			Aurkb (MGI:107168)
chr17	8224815	8248056	17p13.1	17p13.1	613129	CTC1, CRMCC, C17orf68, AAF132	Conserved telomere maintenance component 1	CTC1	80169	ENSG00000178971		Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3), Autosomal recessive	Ctc1 (MGI:1916214)
chr17	8247608	8270486	Chr.17	17p13.1	602133	PFAS, FGARAT	phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)	PFAS	5198	ENSG00000178921			Pfas (MGI:2684864)
chr17	8287763	8295400	17p13.1	17p13.1	610818	SLC25A35	Solute carrier family 25, member 35	SLC25A35	399512	ENSG00000125434			Slc25a35 (MGI:1919248)
chr17	8288670	8290087	17p13.1	17p13.1	607954	RANGRF, MOG1	RAN guanine nucleotide release factor	RANGRF	29098	ENSG00000108961			Rangrf (MGI:1889073)
chr17	8310241	8322511	17p13.1	17p13.1	608504	ARGEF15, KIAA0915	Rho guanine nucleotide exchange factor 15	ARHGEF15	22899	ENSG00000198844			Arhgef15 (MGI:3045246)
chr17	8339840	8346046	17p13.1	17p13.1	610097	ODF4, OPPO1	Outer dense fiber of sperm tails 4	ODF4	146852	ENSG00000184650			Odf4 (MGI:2182079)
chr17	8358822	8376704	17p13.1	17p13.1	620920	KRBA2	KRAB-A domain-containing protein 2	KRBA2	124751	ENSG00000184619			
chr17	8377516	8383193	17p	17p13.1	603704	RPL26, DBA11	Ribosomal protein L26	RPL26	6154	ENSG00000161970	mutation identified in 1 family	?Diamond-Blackfan anemia 11, 614900 (3), Autosomal dominant	Rpl26 (MGI:106022)
chr17	8474212	8630725	17p13	17p13.1	160776	MYH10	Myosin, heavy polypeptide-10, non-muscle	MYH10	4628	ENSG00000133026			Myh10 (MGI:1930780)
chr17	8413131	8474328	Chr.17	17p13.1	607538	NUDEL	Nude-like protein (endooligopeptidase A)	NDEL1	81565	ENSG00000166579			Ndel1 (MGI:1932915)
chr17	8747532	8758546	17p13.1	17p13.1	617628	SPDYE4	Speedy/RINGO cell cycle regulator family, member E4	SPDYE4	388333	ENSG00000183318			Spdye4a,Spdye4b (MGI:1921923,MGI:3612701)
chr17	8802722	8867677	17p13.1	17p13.1	611462	PIK3R6, C17orf38	Phosphatidylinositol 3-kinase, regulatory subunit 6	PIK3R6	146850	ENSG00000276231			Pik3r6 (MGI:2144613)
chr17	8878916	8965707	17p13.1	17p13.1	611317	PIK3R5, p101	Phosphatidylinositol 3-kinase, regulatory subunit 5	PIK3R5	23533	ENSG00000141506		Ataxia-oculomotor apraxia 3, 615217 (3), Autosomal recessive	Pik3r5 (MGI:2443588)
chr17	9003087	9244000	17p13.1	17p13.1	601614	NTN1, NTN1L, MRMV4	Netrin 1, mouse, homolog of	NTN1	9423	ENSG00000065320		Mirror movements 4, 618264 (3), Autosomal dominant	Ntn1 (MGI:105088)
chr17	9250471	9575820	17p12	17p13.1	604203	STX8	Syntaxin 8	STX8	9482	ENSG00000170310			Stx8 (MGI:1890156)
chr17	9576642	9645554	17p13.1	17p13.1	609804	CFAP52, WDR16, WDRPUH, HTX10	Cilia- and flagella-associated protein 52	CFAP52	146845	ENSG00000166596		Heterotaxy, visceral, 10, autosomal, with male infertility, 619607 (3), Autosomal recessive	Cfap52 (MGI:1919110)
chr17	9771438	9791592	17p13.1	17p13.1	616161	DHRS7C, SDR32C2	Short-chain dehydrogenase reductase family, member 7C	DHRS7C	201140	ENSG00000184544			Dhrs7c (MGI:1915710)
chr17	9825924	9892099	17p13.3	17p13.1	603659	GLP2R	Glucagon-like peptide 2 receptor	GLP2R	9340	ENSG00000065325			Glp2r (MGI:2136733)
chr17	9896320	9905271	17p13.1	17p13.1	179618	RCVRN, RCV1	Recoverin	RCVRN	5957	ENSG00000109047			Rcvrn (MGI:97883)
chr17	9910606	10198606	17p	17p13.1	603127	GAS7	Growth arrest-specific 7	GAS7	8522	ENSG00000007237			Gas7 (MGI:1202388)
chr17	10300865	10373006	17p13.1-p12	17p13.1	603487	MYH13	Myosin, heavy polypeptide 13, skeletal muscle	MYH13	8735	ENSG00000006788			Myh13 (MGI:1339967)
chr17	10390322	10421950	17p13.1	17p13.1	160741	MYH8, DA7	Myosin, heavy polypeptide-8, skeletal muscle, perinatal	MYH8	4626	ENSG00000133020		Carney complex variant, 608837 (3); Trismus-pseudocamptodactyly syndrome, 158300 (3), Autosomal dominant	Myh8 (MGI:1339712)
chr17	10443263	10469559	17p13.1	17p13.1	160742	MYH4	Myosin, heavy polypeptide-4, skeletal muscle	MYH4	4622	ENSG00000264424			Myh4 (MGI:1339713)
chr17	10492307	10518542	17p13.1	17p13.1	160730	MYH1	Myosin, heavy polypeptide-1, skeletal muscle, adult	MYH1	4619	ENSG00000109061	cluster = 6 genes in 500kb		Myh1 (MGI:1339711)
chr17	10521148	10549658	17p13.1	17p13.1	160740	MYH2, CMYO6	Myosin, heavy polypeptide-2, skeletal muscle, adult	MYH2	4620	ENSG00000125414		Congenital myopathy 6 with ophthalmoplegia, 605637 (3), Autosomal recessive, Autosomal dominant	Myh2 (MGI:1339710)
chr17	10628532	10678417	17p13.1	17p13.1	160720	MYH3, DA2A, DA2B3, DA8, CPSFS1A, CPSFS1B	Myosin, heavy polypeptide-3, skeletal muscle, embryonic	MYH3	4621	ENSG00000109063		Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, 178110 (3), Autosomal dominant; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, 618469 (3), Autosomal recessive; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 (3), Autosomal dominant; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 (3), Autosomal dominant	Myh3 (MGI:1339709)
chr17	10672474	10697533	17p13-p12	17p13.1	603644	SCO1, SCOD1, MC4DN4	SCO cytochrome c oxidase assembly protein 1	SCO1	6341	ENSG00000133028		Mitochondrial complex IV deficiency, nuclear type 4, 619048 (3), Autosomal recessive	Sco1 (MGI:106362)
chr17	10800001	16100000	17p12		605572	AOMS2	Abdominal obesity-metabolic syndrome QTL2		65077		second QTL on 3q27	Abdominal obesity-metabolic syndrome, 605572 (2), Autosomal dominant	
chr17	10800001	33500000	17p12-q11.2		613392	DFNB85	Deafness, autosomal recessive 85		100359399		between rs230884 and rs12603885	Deafness, autosomal recessive 85, 613392 (2), Autosomal recessive	
chr17	10800001	42800000	17p12-q21.2		614928	ECTD6	Ectodermal dysplasia 6, hair/nail type		101101770		between D17S839 and D17S1299	Ectodermal dysplasia 6, hair/nail type, 614928 (2), Autosomal recessive	
chr17	10800001	22700000	17p12-p11.2		616652	YUHAL	Yuan-Harel-Lupski syndrome				contiguous gene duplication syndrome	Yuan-Harel-Lupski syndrome, 616652 (4), Autosomal dominant	
chr17	10822470	10838087	17p13.1	17p12	612068	PIRT	Phosphoinositide-interacting regulator of transient receptor potential channels	PIRT	644139	ENSG00000233670			Pirt (MGI:2443635)
chr17	11241213	11564063	17p12	17p12	617327	SHISA6	Shisa family, member 6	SHISA6	388336	ENSG00000188803			Shisa6 (MGI:2685725)
chr17	11598470	11969748	17p12	17p12	603330	DNAH9, DNAH17L, DNEL1, CILD40	Dynein, axonemal, heavy chain 9	DNAH9	1770	ENSG00000007174		Ciliary dyskinesia, primary, 40, 618300 (3), Autosomal recessive	Dnah9 (MGI:1289279)
chr17	11977439	12021527	17p13-p12	17p12	194524	ZNF18, KOX11	Zinc finger protein-18 (KOX11)	ZNF18	7566	ENSG00000154957			Zkscan6 (MGI:1289293)
chr17	12020877	12143828	17p11.2	17p12	601335	SERK1, PRKMK4, MAPKK4, JNKK1	SAPK/ERK kinase-1	MAP2K4	6416	ENSG00000065559			Map2k4 (MGI:1346869)
chr17	12665890	12768949	17p11.2	17p12	606127	MYOCD, MGBL	Myocardin	MYOCD	93649	ENSG00000141052		Megabladder, congenital, 618719 (3), Autosomal dominant	Myocd (MGI:2137495)
chr17	12789498	12991643	17p12	17p12	617716	ARHGAP44, RICH2, KIAA0672	RHO GTPase-activating protein 44	ARHGAP44	9912	ENSG00000006740			Arhgap44 (MGI:2144423)
chr17	12991612	13018027	17p11	17p12	605367	ELAC2, HPC2, COXPD17	elaC ribonuclease Z 2	ELAC2	60528	ENSG00000006744	at ~365cR	{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3); Combined oxidative phosphorylation deficiency 17, 615440 (3), Autosomal recessive	Elac2 (MGI:1890496)
chr17	13494032	13601929	17p12-p11.2	17p12	604057	HS3ST3A1, 30ST3A1	Heparan sulfate-glucosamine 3-sulfotransferase 3A1	HS3ST3A1	9955	ENSG00000153976			Hs3st3a1 (MGI:1333861)
chr17	14069504	14208677	17p12-p11.2	17p12	602125	COX10, MC4DN3	Cytochrome c oxidase, subunit X	COX10	1352	ENSG00000006695		Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3), Autosomal recessive	Cox10 (MGI:1917633)
chr17	14301081	14349404	17p12-p11.2	17p12	604058	HS3ST3B1, 30ST3B1	Heparan sulfate-glucosamine 3-sulfotransferase 3B1	HS3ST3B1	9953	ENSG00000125430			Hs3st3b1 (MGI:1333853)
chr17	15229779	15265326	17p11.2	17p12	601097	PMP22, CMT1A, CMT1E, DSS, CIDP	Peripheral myelin protein-22	PMP22	5376	ENSG00000109099	mutation identified in 1 CIDP family	Charcot-Marie-Tooth disease, type 1A, 118220 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1E, 118300 (3), Autosomal dominant; ?Neuropathy, inflammatory demyelinating, 139393 (3), ?Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant	Pmp22 (MGI:97631)
chr17	15303812	15343671	17p12	17p12	612683	TEKT3, SPGF81	Tektin 3	TEKT3	64518	ENSG00000125409		Spermatogenic failure 81, 620277 (3), Autosomal recessive	Tekt3 (MGI:1918312)
chr17	15565482	15619704	17p12	17p12	604596	CDRT1, C17orf1A	CMT1A duplicated region transcript 1	FBXW10B	374286	ENSG00000241322			Fbxw10 (MGI:3052463)
chr17	15627966	15684311	17p11.2	17p12	609505	TRIM16, EBBP	Tripartite motif-containing protein 16	TRIM16	10626	ENSG00000221926			Trim16 (MGI:2137356)
chr17	15675476	15675643	17p13-p12	17p12	194535	ZNF29P	Zinc finger protein 29, pseudogene	ZNF29P	7577	ENSG00000108452	proximal to TP53		
chr17	15850362	15975746	17p12-p11.2	17p12	600446	ADORA2B	Adenosine A2b receptor	ADORA2B	136	ENSG00000170425	incorrectly put on 10		Adora2b (MGI:99403)
chr17	15976560	15999704	17p12	17p12	614535	ZSWIM7, SWS1, SPGF71, ODG10	Zinc finger SWIM domain-containing protein 7	ZSWIM7	125150	ENSG00000214941	mutation identified in 1 ODG10 family	Spermatogenic failure 71, 619831 (3), Autosomal recessive; ?Ovarian dysgenesis 10, 619834 (3), Autosomal recessive	Zswim7 (MGI:1916997)
chr17	15999824	16045015	17p12	17p12	613814	TTC19, MC3DN2	Tetratricopeptide repeat domain 19	TTC19	54902	ENSG00000011295		Mitochondrial complex III deficiency, nuclear type 2, 615157 (3), Autosomal recessive	Ttc19 (MGI:1920045)
chr17	16029157	16215534	11p11.2	17p12-p11.2	600849	NCOR1	Nuclear receptor corepressor 1	NCOR1	9611	ENSG00000141027			Ncor1 (MGI:1349717)
chr17	16100001	25100000	17p11		608904	ADHD2	Attention deficit-hyperactivity disorder, susceptibility to, 2		450088			{Attention deficit-hyperactivity disorder, susceptibility to, 2}, 608904 (2)	
chr17	16100001	22700000	17p11.2		607354	IS2, AIS2	Scoliosis, idiopathic 2		282552		between D17S947 and D17S798	Scoliosis, idiopathic 2, 607354 (2)	
chr17	16100001	22700000	17p11.2		610883	PTLS	Potocki-Lupski syndrome				contiguous gene syndrome	Potocki-Lupski syndrome, 610883 (4), Isolated cases	
chr17	16217210	16326411	17p12-p11.2	17p11.2	605947	PIGL, CHIME	Phosphatidylinositol glycan, class L	PIGL	9487	ENSG00000108474		CHIME syndrome, 280000 (3), Autosomal recessive	Pigl (MGI:2681271)
chr17	16342537	16353469	17p11.2	17p11.2	608139	CENPV, P30	Centromere protein V	CENPV	201161	ENSG00000166582			Cenpv (MGI:1920389)
chr17	16380779	16382745	17p12-p11.1	17p11.2	191339	UBB	Ubiquitin B	UBB	7314	ENSG00000170315			Ubb (MGI:98888)
chr17	16415571	16437003	Chr.17	17p11.2	606676	TRPV2, VRL1	Transient receptor potential cation channel, subfamily V, member 2	TRPV2	51393	ENSG00000187688			Trpv2 (MGI:1341836)
chr17	16666717	16777881	17p11.2	17p11.2	619413	CCDC144A, KIAA0565	Coiled-coil domain-containing protein 144A	CCDC144A	9720	ENSG00000170160			
chr17	16939081	16972118	17p11.2	17p11.2	604907	TNFRSF13B, TACI, CVID2	Tumor necrosis factor receptor superfamily, member 13B	TNFRSF13B	23495	ENSG00000240505		Immunodeficiency, common variable, 2, 240500 (3), Autosomal recessive, Autosomal dominant; Immunoglobulin A deficiency 2, 609529 (3)	Tnfrsf13b (MGI:1889411)
chr17	17042457	17192643	17p11.2	17p11.2	612935	MPRIP, MRIP, KIAA0864, RIP3, P116RIP	Myosin phosphatase Rho-interacting protein	MPRIP	23164	ENSG00000133030			Mprip (MGI:1349438)
chr17	17200995	17206333	17p11.2	17p11.2	614960	PLD6, ZUC	Phospholipase D family, member 6	PLD6	201164	ENSG00000179598			Pld6 (MGI:2687283)
chr17	17212212	17237330	17p11.2	17p11.2	607273	FLCN, BHD	Folliculin	FLCN	201163	ENSG00000154803		Birt-Hogg-Dube syndrome, 135150 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Pneumothorax, primary spontaneous, 173600 (3), Autosomal dominant; Renal carcinoma, chromophobe, somatic, 144700 (3)	Flcn (MGI:2442184)
chr17	17246616	17281246	17p11.2	17p11.2	604665	COPS3, SGN3	COP9 signalosome, subunit 3	COPS3	8533	ENSG00000141030			Cops3 (MGI:1349409)
chr17	17303373	17347663	17p11.2	17p11.2	605292	NT5M, DNT2	Deoxyribonucleotidase, mitochondrial (5' nucleotidase, mitochondrial)	NT5M	56953	ENSG00000205309			Nt5m (MGI:1917127)
chr17	17477000	17493221	17p11.2	17p11.2	609878	MED9, MED25, FLJ10193	Mediator of RNA polymerase II transcription, subunit 9, S. cerevisiae, homolog of	MED9	55090	ENSG00000141026			Med9 (MGI:2183151)
chr17	17494437	17496395	17p11.2	17p11.2	605550	RASD1, DEXRAS1	Ras protein, dexamethasone-induced, 1	RASD1	51655	ENSG00000108551			Rasd1 (MGI:1270848)
chr17	17505563	17592142	17p11.2	17p11.2	602391	PEMT, PEMPT	Phosphatidylethanolamine N-methyltransferase	PEMT	10400	ENSG00000133027			Pemt (MGI:104535)
chr17	17681458	17811453	17p11.2	17p11.2	607642	RAI1, SMCR, SMS	Retinoic acid-induced gene 1	RAI1	10743	ENSG00000108557		Smith-Magenis syndrome, 182290 (3), Autosomal dominant, Isolated cases	Rai1 (MGI:103291)
chr17	17811334	17836986	17p11.2	17p11.2	184756	SREBF1, IFAP2, HMD	Sterol regulatory element binding transcription factor 1	SREBF1	6720	ENSG00000072310		Ichthyosis, follicular, with atrichia and photophobia syndrome 2, 619016 (3), Autosomal dominant; Mucoepithelial dysplasia, hereditary, 158310 (3), Autosomal dominant	Srebf1 (MGI:107606)
chr17	17813836	17813931	17p11.2	17p11.2	613486	MIR33B, MIRN33B	Micro RNA 33B	MIR33B	693120	ENSG00000207839			
chr17	17843511	17972400	17p11.2	17p11.2	615519	TOM1L2	Target of MYB1-like 2 membrane trafficking protein	TOM1L2	146691	ENSG00000175662			Tom1l2 (MGI:2443306)
chr17	17972813	18016889	17p11.2	17p11.2	618758	DRC3, LRRC48, CFAP134	Dynein regulatory complex subunit 3	DRC3	83450	ENSG00000171962			Drc3 (MGI:1921915)
chr17	18015059	18039168	17p11.2	17p11.2	608918	ATPAF2, ATP12, MC5DN1	ATP synthase, mitochondrial F1 complex, assembly factor 2	ATPAF2	91647	ENSG00000171953	mutation identified in 1 MC5DN1 patient	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3), Autosomal recessive	Atpaf2 (MGI:2180561)
chr17	18039408	18068405	17p11.2	17p11.2	617699	GID4, VID2, C17orf39	GID complex, subunit 4	GID4	79018	ENSG00000141034			Gid4 (MGI:1914021)
chr17	18087948	18107969	17p11.2	17p11.2	602986	DRG2	Developmentally regulated GTP-binding protein 2	DRG2	1819	ENSG00000108591			Drg2 (MGI:1342307)
chr17	18108756	18179800	17p11.2	17p11.2	602666	MYO15A, DFNB3	Myosin XVA	MYO15A	51168	ENSG00000091536		Deafness, autosomal recessive 3, 600316 (3), Autosomal recessive	Myo15a (MGI:1261811)
chr17	18183828	18209954	17p11.2	17p11.2	613303	ALKBH5, ABH5	AlkB homolog 5, RNA demethylase	ALKBH5	54890	ENSG00000091542			Alkbh5 (MGI:2144489)
chr17	18225635	18244875	17p12-p11.2	17p11.2	600966	LLGL1, DLG4	LLGL scribble cell polarity complex component 1	LLGL1	3996	ENSG00000131899			Llgl1 (MGI:102682)
chr17	18244815	18259022	17p11.2	17p11.2	600362	FLII, CMD2J	FLII actin remodeling protein	FLII	2314	ENSG00000177731		Cardiomyopathy, dilated, 2J, 620635 (3), Autosomal recessive	Flii (MGI:1342286)
chr17	18260662	18266552	17p11.2	17p11.2	615498	MIEF2, SMCR7, MID49, COXPD49	Mitochondrial elongation factor 2	MIEF2	125170	ENSG00000177427	mutation identified in 1 COXPD49 patient	?Combined oxidative phosphorylation deficiency 49, 619024 (3), Autosomal recessive	Mief2 (MGI:2144199)
chr17	18271428	18314994	17p12-p11.2	17p11.2	601243	TOP3A, MGRISCE2, PEOB5	Topoisomerase (DNA) III, alpha	TOP3A	7156	ENSG00000177302		Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3), Autosomal recessive	Top3a (MGI:1197527)
chr17	18315293	18328056	17p11.2	17p11.2	617074	SMCR8	Smith-Magenis syndrome chromosome region, candidate gene 8	SMCR8	140775	ENSG00000176994			Smcr8 (MGI:2444720)
chr17	18327873	18363550	17p11.2	17p11.2	182144	SHMT1	Serine hydroxymethyltransferase (soluble)	SHMT1	6470	ENSG00000176974	?role in Smith-Magenis syndrome		Shmt1 (MGI:98299)
chr17	18497090	18503285	17p13.1-q25	17p11.2	600719	NOS2P2, NOS2B	Nitric oxide synthase 2 pseudogene 2	NOS2P2	201288				
chr17	18667629	18682314	7p11.2	17p11.2	620471	FOXO3B	Forkhead box O3B	FOXO3B	2310	ENSG00000240445			Foxo3 (MGI:1890081)
chr17	18744054	18779349	17p12	17p11.2	611679	FBXW10	F-box and WD40 domain protein 10	FBXW10	10517	ENSG00000171931			Fbxw10 (MGI:3052463)
chr17	18856299	18931287	17p12-p11.2	17p11.2	603762	PRPSAP2, PAP41	Phosphoribosylpyrophosphate synthetase-associated protein 2	PRPSAP2	5636	ENSG00000141127			Prpsap2 (MGI:2384838)
chr17	18950676	19022565	17p11.2	17p11.2	618636	SLC5A10, SGLT5	Solute carrier family 5 (sodium/glucose cotransporter), member 10	SLC5A10	125206	ENSG00000154025			Slc5a10 (MGI:1926089)
chr17	18968789	19006116	17p11.2	17p11.2	615886	FAM83G, PAWS1	Family with sequence similarity 83, member G	FAM83G	644815	ENSG00000188522			Fam83g (MGI:1916890)
chr17	19020656	19051373	17p11.2	17p11.2	604330	GRAP, DFNB114	GRB2-related adaptor protein	GRAP	10750	ENSG00000154016		Deafness, autosomal recessive 114, 618456 (3), Autosomal recessive	Grap (MGI:1918770)
chr17	19188016	19188232	17p11.2	17p11.2	180710	RNU3	RNA, U3 small nuclear	SNORD3A	780851		deleted in Smith-Magenis syndrome		
chr17	19334695	19377913	17p11.2	17p11.2	614144	B9D1, MKSR1, MKS9, JBTS27	B9 domain-containing protein 1	B9D1	27077	ENSG00000108641	mutation identified in 1 MKS9 patient	?Meckel syndrome 9, 614209 (3), Autosomal recessive; Joubert syndrome 27, 617120 (3), Autosomal recessive	B9d1 (MGI:1351471)
chr17	19237366	19336715	Chr.17	17p11.2	607263	EPN2, KIAA1065	Epsin 2	EPN2	22905	ENSG00000072134			Epn2 (MGI:1333766)
chr17	19377750	19383544	17p11.2	17p11.2	602521	MAPK7, PRKM7, ERK5	Mitogen-activated protein kinase 7 (extracellular signal-regulated kinase 5)	MAPK7	5598	ENSG00000166484			Mapk7 (MGI:1346347)
chr17	19383445	19387190	17p11.2	17p11.2	600596	MFAP4	Microfibrillar-associated protein-4	MFAP4	4239	ENSG00000166482			Mfap4 (MGI:1342276)
chr17	19411232	19417276	17p11.2	17p11.2	601237	RNF112, ZNF179, BFP	RING finger protein 112	RNF112	7732	ENSG00000128482			Rnf112 (MGI:106611)
chr17	19533854	19579034	17p11.2	17p11.2	609832	SLC47A1, MATE1, FLJ10847	Solute carrier family 47, member 1	SLC47A1	55244	ENSG00000142494			Slc47a1,Slc47a2 (MGI:1914723,MGI:3588190)
chr17	19648136	19677596	17p11.2	17p11.2	609523	ALDH3A2, ALDH10, SLS, FALDH	Aldehyde dehydrogenase 3 family, member A2 (fatty aldehyde dehydrogenase)	ALDH3A2	224	ENSG00000072210		Sjogren-Larsson syndrome, 270200 (3), Autosomal recessive	Aldh3a2 (MGI:1353452)
chr17	19678317	19718979	17p11.2	17p11.2	609833	SLC47A2, MATE2, FLJ31196, MATE2K	Solute carrier family 47, member 2	SLC47A2	146802	ENSG00000180638			Slc47a1,Slc47a2 (MGI:1914723,MGI:3588190)
chr17	19737984	19748298	17p11.2	17p11.2	100660	ALDH3A1, ALDH3	Aldehyde dehydrogenase 3 family, member A1	ALDH3A1	218	ENSG00000108602			Aldh3a1 (MGI:1353451)
chr17	19770830	19867936	17p11.2	17p11.2	608650	ULK2, KIAA0623, UNC51.2	UNC51-like kinase 2	ULK2	9706	ENSG00000083290			Ulk2 (MGI:1352758)
chr17	19904302	19977828	17p11.1	17p11.2	604694	AKAP10	A-kinase anchor protein 10	AKAP10	11216	ENSG00000108599			Akap10 (MGI:1890218)
chr17	20009359	20319026	17p11.2	17p11.2	608793	SPECC1, HCMOGT1, NSP	Sperm antigen with calponin homology and coiled-coil domains 1	SPECC1	92521	ENSG00000128487			Specc1 (MGI:2442356)
chr17	20999596	21043419	17p11.2	17p11.2	612116	USP22, KIAA1064	Ubiquitin-specific protease 22	USP22	23326	ENSG00000124422			Usp22 (MGI:2144157)
chr17	21126964	21191420	17p11.2	17p11.2	616160	DHRS7B, SDR32C1	Short-chain dehydrogenase reductase family, member 7B	DHRS7B	25979	ENSG00000109016			Dhrs7b (MGI:2384931)
chr17	21197954	21214161	17p11.2	17p11.2	618817	TMEM11	Transmembrane protein 11	TMEM11	8834	ENSG00000178307			Tmem11 (MGI:2144726)
chr17	21284711	21315240	17q11.2	17p11.2	602315	PRKMK3, MAPKK3, MEK3	Protein kinase, mitogen-activated, kinase-3	MAP2K3	5606	ENSG00000034152			Map2k3 (MGI:1346868)
chr17	21376357	21419870	17p11.2-p11.1	17p11.2	602323	KCNJ12, KCNJN1	Potassium inwardly-rectifying channel, subfamily J, member 12	KCNJ12	3768	ENSG00000184185			Kcnj12 (MGI:108495)
chr17	21692523	21704612	17p11.2	17p11.2	613236	KCNJ18, KIR2.6, TTPP2	Potassium channel, inwardly rectifying, subfamily J, member 18	KCNJ18	100134444	ENSG00000260458		{Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3), Autosomal dominant	Kcnj12 (MGI:108495)
chr17	22406019	22413741	17p11.2	17p11.2	605160	PRG4, FLJ36000	p53-responsive gene 4		284124	ENSG00000276399			
chr17	22523415	22524663	17p11.2	17p11.2	616985	MTRNR2L1, HN1	MTRNR2-like 1	MTRNR2L1	100462977				
chr17	25100001	33500000	17q11		609378	AUTS6	Autism, susceptibility to, 6		554314		max lod at D17S1800	{Autism susceptibility 6}, 609378 (2)	
chr17	25100001	33500000	17q11		606601	ERVE1, HERVE1	Endogenous retroviral sequence E, 1		85314				
chr17	25100001	83257441	17q		603918	HYT1	Hypertension, essential, susceptibility to, 1		117191		~18cM distal to ACE	{Hypertension, essential, susceptibility to, 1}, 145500 (2), Multifactorial	
chr17	27294114	27315926	17q11.1	17q11.1	610091	WSB1, SWIP1	WD repeat- and SOCS box-containing protein 1	WSB1	26118	ENSG00000109046			Wsb1 (MGI:1926139)
chr17	27400001	33500000	17q11.2		601395	CCL3L1, SCYA3L1, LD78	Chemokine, C-C motif, ligand 3-like 1	CCL3L1	6349		varies in copy number 1-10	{HIV/AIDS, susceptibility to}, 609423 (3)	Ccl3 (MGI:98260)
chr17	27400001	33500000	17q11.2		613675	DEL17q11.2, C17DELq11.2	Chromosome 17q11.2 deletion syndrome, 1.4Mb (NF1 microdeletion syndrome)					Chromosome 17q11.2 deletion syndrome, 1.4Mb, 613675 (4), Autosomal dominant	
chr17	27400001	33500000	17q11.2		618874	DUP17q11.2, C17DUPq11.2	Chromosome 17q11.2 duplication syndrome, 1.4-Mb					Chromosome 17q11.2 duplication syndrome, 1.4-Mb, 618874 (4), Autosomal dominant, Isolated cases	
chr17	27400001	72900000	17q11.2-q24		154275	MHS2	Malignant hyperthermia susceptibility 2		4264		?due to mutation in SCN4A	{Malignant hyperthermia susceptibility 2}, 154275 (2), Autosomal dominant	
chr17	27400001	33500000	17q11.2		612575	MPVQTL3	Mean platelet volume quantitative trait locus 3		100271869		associated with rs2138852	[Mean platelet volume QTL3], 612575 (2)	
chr17	27456448	27626435	17q11.2	17q11.2	601132	KSR, KSR1	Kinase suppressor of RAS	KSR1	8844	ENSG00000141068			Ksr1 (MGI:105051)
chr17	27631188	27649560	17q11.2	17q11.2	601879	LGALS9	Lectin, galactoside-binding, soluble, 9	LGALS9	3965	ENSG00000168961			Lgals9 (MGI:109496)
chr17	27756766	27800529	17cen-q11.2	17q11.2	163730	NOS2A, NOS2	Nitric oxide synthase 2A	NOS2	4843	ENSG00000007171	?cluster of 3 NOS2 genes	{Malaria, resistance to}, 611162 (3)	Nos2 (MGI:97361)
chr17	28042677	28206074	17q11.2	17q11.2	609476	NLK	NEMO-like kinase	NLK	51701	ENSG00000087095			Nlk (MGI:1201387)
chr17	28226563	28228060	17q11	17q11.2	606637	PYY2	Peptide YY, 2	PYY2	23615	ENSG00000290671			
chr17	28247444	28248289	17q11	17q11.2	606638	PPY2	Pancreatic polypeptide 2	PPY2P	23614				
chr17	28319200	28328685	17q11.2	17q11.2	612912	TMEM97, MAC30	Transmembrane protein 97	TMEM97	27346	ENSG00000109084			Tmem97 (MGI:1916321)
chr17	28328326	28335472	17p11.1	17q11.2	614394	IFT20	Intraflagellar transport 20	IFT20	90410	ENSG00000109083			Ift20 (MGI:1915585)
chr17	28335761	28347009	17q22-q23	17q11.2	191161	TNFAIP1	Tumor necrosis factor, alpha-induced protein-1 (endothelial)	TNFAIP1	7126	ENSG00000109079			Tnfaip1 (MGI:104961)
chr17	28346633	28357527	17q11.2	17q11.2	611519	POLDIP2, PDIP38	Polymerase delta-interacting protein 2	POLDIP2	26073	ENSG00000004142			Poldip2 (MGI:1915061)
chr17	28357647	28363683	17q11.2	17q11.2	616815	TMEM199, VMA12, VPH2, C17orf32, CDG2P	Transmembrane protein 199	VMA12	147007	ENSG00000244045		Congenital disorder of glycosylation, type IIp, 616829 (3), Autosomal recessive	Tmem199 (MGI:2144113)
chr17	28363506	28365199	17q11.2	17q11.2	610975	SEBOX, OG9	Skin-, embryo-, brain-, and oocyte-specific homeobox	SEBOX	645832	ENSG00000274529			Sebox (MGI:108012)
chr17	28367284	28370307	17q11	17q11.2	193190	VTN, VNT	Vitronectin (serum spreading factor, somatomedin B, complement S-protein)	VTN	7448	ENSG00000109072			Vtn (MGI:98940)
chr17	28371694	28404049	17q11	17q11.2	607732	SARM, KIAA0524	Sterile alpha and heat/armadillo motifs-containing protein	SARM1	23098	ENSG00000004139			Sarm1 (MGI:2136419)
chr17	28394642	28406592	17q11.1	17q11.2	611672	SLC46A1, HCP1, PCFT	Solute carrier family 46 (folate transporter), member 1	SLC46A1	113235	ENSG00000076351		Folate malabsorption, hereditary, 229050 (3), Autosomal recessive	Slc46a1 (MGI:1098733)
chr17	28473644	28497781	17p11.1-q11.1	17q11.2	604148	SLC13A2, NADC1	Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	SLC13A2	9058	ENSG00000007216			Slc13a2 (MGI:1276558)
chr17	28506348	28538900	17q11-q12	17q11.2	600838	FOXN1, WHN, TIDAND, TLIND	Forkhead box N1 (winged helix nude)	FOXN1	8456	ENSG00000109101		T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, 618806 (3), Autosomal dominant; T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3), Autosomal recessive	Foxn1 (MGI:102949)
chr17	28546707	28552628	17q11.2	17q11.2	604011	UNC119, HRG4, IMD13, CORD24	unc-119 lipid binding chaperone	UNC119	9094	ENSG00000109103	mutation identified in 1 IMD13 family	Cone-rod dystrophy 24, 620342 (3), Autosomal dominant; ?Immunodeficiency 13, 615518 (3), Autosomal dominant	Unc119 (MGI:1328357)
chr17	28553387	28571524	17q11.2	17q11.2	610271	PIGS, GPIBD18, DEE95	Phosphatidylinositol glycan, class S	PIGS	94005	ENSG00000087111		Developmental and epileptic encephalopathy 95, 618143 (3), Autosomal recessive	Pigs (MGI:2687325)
chr17	28573120	28576895	17cen-q12	17q11.2	103870	ALDOC	Aldolase C, fructose-bisphosphatase	ALDOC	230	ENSG00000109107			Aldoc (MGI:101863)
chr17	28577574	28599025	17q11.2	17q11.2	615562	SPAG5, MAP126, ASTRIN	Sperm-associated antigen 5	SPAG5	10615	ENSG00000076382			Spag5 (MGI:1927470)
chr17	28614440	28645159	17q11.2	17q11.2	610664	KIAA0100, BCOX1	KIAA0100 gene	BLTP2	9703	ENSG00000007202			Bltp2 (MGI:1919753)
chr17	28648346	28662194	17q11.2	17q11.2	602934	SDF2	Stromal cell-derived factor-2	SDF2	6388	ENSG00000132581			Sdf2 (MGI:108019)
chr17	28662205	28702679	17q11.2	17q11.2	601333	SUPT6H	SPT6 homolog, histone chaperone and transcription elongation factor	SUPT6H	6830	ENSG00000109111			Supt6 (MGI:107726)
chr17	28703197	28711888	17q11.2	17q11.2	617376	PROCA1	Proline-rich cyclin A1-interacting protein	PROCA1	147011	ENSG00000167525			Proca1 (MGI:1918274)
chr17	28714281	28718428	17q11.1	17q11.2	610917	RAB34, RAH, OFD20	Ras-associated protein 34	RAB34	83871	ENSG00000109113		Orofaciodigital syndrome XX, 620718 (3), Autosomal recessive	Rab34 (MGI:104606)
chr17	28719985	28724359	17q11	17q11.2	602326	RPL23A	Ribosomal protein L23a	RPL23A	6147	ENSG00000198242			Rpl23a (MGI:3040672)
chr17	28724348	28727937	17q11.2	17q11.2	620966	TLCD1	TLC domain-containing protein 1 (calfacilitin)	TLCD1	116238	ENSG00000160606			Tlcd1 (MGI:1915572)
chr17	28728788	28743455	17q11.1	17q11.2	609799	NEK8, JCK, NPHP9, RHPD2, PKD8	NIMA-related kinase 8	NEK8	284086	ENSG00000160602	mutations identified in 1 family with NPHP9	Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive; Polycystic kidney disease 8, 620903 (3), Autosomal dominant; ?Nephronophthisis 9, 613824 (3)	Nek8 (MGI:1890646)
chr17	28744011	28750956	17q11.2	17q11.2	602464	TRAF4, MLN62, CART1	TNF receptor-associated factor 4	TRAF4	9618	ENSG00000076604			Traf4 (MGI:1202880)
chr17	28855016	28861061	17q11.2	17q11.2	607435	ERAL1, ERAL1A, ERAL1B, PRLTS6	ERA G-protein-like 1	ERAL1	26284	ENSG00000132591		Perrault syndrome 6, 617565 (3), Autosomal recessive	Eral1 (MGI:1889295)
chr17	28861369	28861440	17q11.2	17q11.2	612071	MIR451, MIRN451	Micro RNA 451	MIR451A	574411	ENSG00000284565			Mir451a (MGI:3619412)
chr17	28861533	28861618	17q11.2	17q11.2	612070	MIR144, MIRN144	Micro RNA 144	MIR144	406936	ENSG00000283819			Mir144 (MGI:2676829)
chr17	28879339	28897733	17q11-q12	17q11.2	131560	FLOT2, M17S1, ECS1, ESA1	Flotillin 2 (epidermal surface antigen 1)	FLOT2	2319	ENSG00000132589	~180kb centromeric to NF1		Flot2 (MGI:103309)
chr17	28897781	28903079	17q11.2	17q11.2	616157	DHRS13, SDR7C5	Short-chain dehydrogenase reductase family, member 13	DHRS13	147015	ENSG00000167536			Dhrs13 (MGI:1917701)
chr17	28905250	28951518	17q11.2	17q11.2	618645	PHF12, PF1	PHD finger protein 12	PHF12	57649	ENSG00000109118			Phf12 (MGI:1924057)
chr17	28954905	29006440	17q11.2	17q11.2	616666	SEZ6, BSRPC	Seizure-related 6, mouse, homolog of	SEZ6	124925	ENSG00000063015			Sez6 (MGI:104745)
chr17	29043141	29057216	17q11.2	17q11.2	616713	PIPOX	Pipecolic acid oxidase	PIPOX	51268	ENSG00000179761			Pipox (MGI:1197006)
chr17	29071122	29180398	17q11.2	17q11.2	610067	MYO18A, SPR210	Myosin XVIIIA	MYO18A	399687	ENSG00000196535			Myo18a (MGI:2667185)
chr17	29071122	29180398	17q11.2	17q11.2	609517	TIAF1, MYO18A, MYSPDZ, MAJN, SPR210, KIAA0216	TGFB1-induced antiapoptotic factor 1	MYO18A	399687	ENSG00000196535			
chr17	29246859	29254494	17q11.1-q12	17q11.2	123610	CRYBA1, CRYB1, CTRCT10	Crystallin, beta A1	CRYBA1	1411	ENSG00000108255	centromeric to NF1	Cataract 10, multiple types, 600881 (3), Autosomal dominant	Cryba1 (MGI:88518)
chr17	29255839	29294148	17q11.2	17q11.2	609356	NUFIP2, KIAA1321, PIG1	Nuclear FMR1 interacting protein 2	NUFIP2	57532	ENSG00000108256			Nufip2 (MGI:1915814)
chr17	29390363	29551903	17q11.2	17q11.2	610266	TAOK1, PSK2, TAO1, MARKK, DDIB	TAO kinase 1	TAOK1	57551	ENSG00000160551		Developmental delay with or without intellectual impairment or behavioral abnormalities, 619575 (3), Autosomal dominant	Taok1 (MGI:1914490)
chr17	29560547	29567037	17q11.2	17q11.2	619894	ABHD15	Abhydrolase domain-containing protein 15	ABHD15	116236	ENSG00000168792			Abhd15 (MGI:1914727)
chr17	29573475	29589648	17q11.2	17q11.2	608434	GIT1	GIT ArfGap 1	GIT1	28964	ENSG00000108262			Git1 (MGI:1927140)
chr17	29593132	29614761	17q11.2	17q11.2	615124	ANKRD13B	Ankyrin repeat domain-containing protein 13B	ANKRD13B	124930	ENSG00000198720			Ankrd13b (MGI:2144501)
chr17	29625938	29930228	17q11.2	17q11.2	606779	SSH2, KIAA1725	Slingshot, Drosophila, homolog of, 2	SSH2	85464	ENSG00000141298			Ssh2 (MGI:2679255)
chr17	30116816	30186475	17q11.2	17q11.2	616173	NSRP1, NSRP70, CCDC55, NEDSSBA	Nuclear speckle splicing regulatory protein 1	NSRP1	84081	ENSG00000126653		Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, 620001 (3), Autosomal recessive	Nsrp1 (MGI:2144305)
chr17	30194319	30235697	17q11.1-q12	17q11.2	182138	SLC6A4, HTT, OCD1	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	SLC6A4	6532	ENSG00000108576		{Obsessive-compulsive disorder}, 164230 (3), Autosomal dominant; {Anxiety-related personality traits}, 607834 (3)	Slc6a4 (MGI:96285)
chr17	30248203	30291944	17q11.2	17q11.2	602403	BLMH, BMH	Bleomycin hydrolase	BLMH	642	ENSG00000108578			Blmh (MGI:1345186)
chr17	30378927	30469989	17p11.1-q11.1	17q11.2	603102	CPD	Carboxypeptidase D	CPD	1362	ENSG00000108582			Cpd (MGI:107265)
chr17	30477408	30527592	17q11	17q11.2	604026	GOSR1, GOS28, GS28	Golgi snap receptor complex member 1	GOSR1	9527	ENSG00000108587			Gosr1 (MGI:1858260)
chr17	30782684	30824692	17q11.2	17q11.2	614853	CRLF3, CYTOR4, CRLM9, CREME9	Cytokine receptor-like factor 3	CRLF3	51379	ENSG00000176390			Crlf3 (MGI:1860086)
chr17	30831966	30895869	17q11.2	17q11.2	609534	ATAD5, C17orf41, FRAG1, FLJ12735	ATPase family, AAA domain containing 5	ATAD5	79915	ENSG00000176208			Atad5 (MGI:2442925)
chr17	30898986	30906238	17q11.2	17q11.2	616422	TEFM, C17orf42, COXPD58	Transcription elongation factor, mitochondrial	TEFM	79736	ENSG00000172171		Combined oxidative phosphorylation deficiency 58, 620451 (3), Autosomal recessive	Tefm (MGI:1915800)
chr17	30921945	30959322	17q11.2	17q11.2	608635	ADAP2, CENTA2	ArfGAP with dual PH domains 2	ADAP2	55803	ENSG00000184060			Adap2 (MGI:2663075)
chr17	30958921	30999911	17q11	17q11.2	611358	RNF135	RING finger protein 135	RNF135	84282	ENSG00000181481			Rnf135 (MGI:1919206)
chr17	31094927	31377677	17q11.2	17q11.2	613113	NF1, VRNF, WSS, NFNS	Neurofibromin (neurofibromatosis, type I)	NF1	4763	ENSG00000196712		Watson syndrome, 193520 (3), Autosomal dominant; Leukemia, juvenile myelomonocytic, 607785 (3), Somatic mutation, Autosomal dominant; Neurofibromatosis, familial spinal, 162210 (3), Autosomal dominant; Neurofibromatosis, type 1, 162200 (3), Autosomal dominant; Neurofibromatosis-Noonan syndrome, 601321 (3), Autosomal dominant	Nf1 (MGI:97306)
chr17	31294647	31297239	17q11.2	17q11.2	164345	OMG, OMGP	Oligodendrocyte-myelin glycoprotein	OMG	4974	ENSG00000126861	within the NF1 gene		Omg (MGI:106586)
chr17	31303770	31314054	17q11.2	17q11.2	158381	EVI2B, EVDB	Ecotropic viral integration site 2B	EVI2B	2124	ENSG00000185862	within the NF1 gene		Evi2,Evi2b (MGI:1890682,MGI:5439444)
chr17	31316410	31321622	17q11.2	17q11.2	158380	EVI2A, EVI2, EVDA	Ecotropic viral integration site 2A	EVI2A	2123	ENSG00000126860	within the NF1 gene		Evi2a (MGI:95458)
chr17	31391675	31538211	17q11.2	17q11.2	611999	RAB11FIP4, KIAA1821	RAB11 family-interacting protein 4	RAB11FIP4	84440	ENSG00000131242			Rab11fip4 (MGI:2442920)
chr17	31559996	31560083	17q11.2	17q11.2	614733	MIR193A	Micro RNA 193A	MIR193A	406968	ENSG00000207614			Mir193a (MGI:2676857)
chr17	31860904	31901708	17q11.2	17q11.2	620948	UTP6, HCA66	UTP6 small subunit processome component	UTP6	55813	ENSG00000108651			Utp6 (MGI:2445193)
chr17	31937007	32001038	17q11.2	17q11.2	606245	SUZ12, JJAZ1, KIAA0160, IMMAS	SUZ12 polycomb repressive complex 2 subunit	SUZ12	23512	ENSG00000178691		Imagawa-Matsumoto syndrome, 618786 (3), Autosomal dominant	Suz12 (MGI:1261758)
chr17	32007383	32053487	17q11.2	17q11.2	616558	LRRC37B	Leucine-rich repeat-containing protein 37B	LRRC37B	114659	ENSG00000185158			Lrrc37 (MGI:2685730)
chr17	32142502	32225727	17q11.2	17q11.2	613888	RHOT1, MIRO1, ARHT1	Ras homolog gene family, member T1	RHOT1	55288	ENSG00000126858			Rhot1 (MGI:1926078)
chr17	32265832	32324661	17q11.2	17q11.2	619017	RHBDL3, VRHO	Rhomboid-like 3	RHBDL3	162494	ENSG00000141314			Rhbdl3 (MGI:2179276)
chr17	32350157	32381885	17q11.2	17q11.2	603428	ZNF207	Zinc finger protein-207	ZNF207	7756	ENSG00000010244	mapped by FISH to 6p21.3		Zfp207 (MGI:1340045)
chr17	32444510	32483319	17q11.2	17q11.2	604449	PSMD11, S9	Proteasome 26S subunit, non-ATPase, 11	PSMD11	5717	ENSG00000108671			Psmd11 (MGI:1916327)
chr17	32486993	32491253	17q11.2	17q11.2	603460	CDK5R1, p35	Cyclin-dependent kinase 5, regulatory subunit 1	CDK5R1	8851	ENSG00000176749			Cdk5r1 (MGI:101764)
chr17	32492522	32877124	17q11-q12	17q11.2	606539	MYO1D, KIAA0727	Myosin ID	MYO1D	4642	ENSG00000176658			Myo1d (MGI:107728)
chr17	32928153	32944315	17q11.2	17q11.2	615949	TMEM98, NNO4	Transmembrane protein 98	TMEM98	26022	ENSG00000006042		Nanophthalmos 4, 615972 (3), Autosomal dominant	Tmem98 (MGI:1923457)
chr17	32991847	32997877	17q12	17q11.2	612749	SPACA3, LYZL3, SLLP1, LYC3, ALLP17	Sperm acrosome-associated 3	SPACA3	124912	ENSG00000141316			Spaca3 (MGI:1922872)
chr17	33013087	34156768	17q11.2-q12	17q11.2-q12	601784	ACCN1, BNC1, MDEG	Amiloride-sensitive cation channel 1, neuronal (degenerin)	ASIC2	40	ENSG00000108684			Asic2 (MGI:1100867)
chr17	33500001	39800000	17q12		609467	CCL3P1, CCL3L2	Chemokine, CC motif, ligane 3, pseudogene 1	CCL3P1	390788				
chr17	33500001	39800000	17q12		603782	CCL4L, SCYA4L, LAG1	Chemokine, C-C motif, ligand 4-like	CCL4L1	388372				Ccl4 (MGI:98261)
chr17	33500001	39800000	17q12		614527	DEL17q12, C17DELq12	Chromosome 17q12 deletion syndrome					Chromosome 17q12 deletion syndrome, 614527 (4), Autosomal dominant	
chr17	33500001	39800000	17q12		614526	DUP17q12, C17DUPq12	Chromosome 17q12 duplication syndrome					Chromosome 17q12 duplication syndrome, 614526 (4), Autosomal dominant	
chr17	33500001	39800000	17q12		611955	HPC11	Prostate cancer, hereditary, 11				associated with rs4430796 and rs7501939	{Prostate cancer, hereditary, 11}, 611955 (2)	
chr17	33500001	39800000	17q12		614221	PBC5	Biliary cirrhosis, primary, 5		100689212		associated with rs9303277	Biliary cirrhosis, primary, 5, 614221 (2)	
chr17	33500001	52100000	17q12-q21		601363	WT4	Wilms tumor-4		8151			Wilms tumor, type 4, 601363 (2), Autosomal dominant	
chr17	34255285	34257203	17q11.2-q12	17q12	158105	CCL2, SCYA2, MCP1, MCAF	Small inducible cytokine A2 (monocyte chemotactic protein, homologous to mouse Sig-je)	CCL2	6347	ENSG00000108691		{Mycobacterium tuberculosis, susceptibility to}, 607948 (3); {HIV-1, resistance to}, 609423 (3); {Coronary artery disease, modifier of} (3); {Spina bifida, susceptibility to}, 182940 (3), Autosomal dominant	Ccl12,Ccl2 (MGI:108224,MGI:98259)
chr17	34270221	34272242	17q11.2-q12	17q12	158106	CCL7, SCYA7, MCP3	Chemokine, C-C motif, ligand 5	CCL7	6354	ENSG00000108688	close to ERBB2		Ccl7 (MGI:99512)
chr17	34285742	34288334	17q21.1-q21.2	17q12	601156	CCL11, SCYA11	Chemokine, C-C motif, ligand 11	CCL11	6356	ENSG00000172156		{Asthma, susceptibility to}, 600807 (3), Autosomal dominant; {HIV1, resistance to}, 609423 (3)	Ccl11 (MGI:103576)
chr17	34319435	34321402	17q11.2	17q12	602283	CCL8, SCYA8	Chemokine, C-C motif, ligand 8	CCL8	6355	ENSG00000108700			Ccl8 (MGI:101878)
chr17	34356480	34358610	17q11.2	17q12	601391	CCL13, SCYA13, NCC1	Chemokine, C-C motif, ligand 13	CCL13	6357	ENSG00000181374			Ccl2 (MGI:98259)
chr17	34360328	34363233	Chr.17	17q12	182281	CCL1, SCYA1	Chemokine, C-C motif, ligand 1	CCL1	6346	ENSG00000108702			Ccl1 (MGI:98258)
chr17	34579582	34639318	17q12	17q12	616178	TMEM132E, DFNB99	Transmembrane protein 132E	TMEM132E	124842	ENSG00000181291		Deafness, autosomal recessive 99, 618481 (3), Autosomal recessive	Tmem132e (MGI:2685490)
chr17	34927861	34961460	17q12	17q12	610730	CCT6B, CCTZ2	Chaperonin containing T-complex polypeptide 1, subunit 6B	CCT6B	10693	ENSG00000132141			Cct6b (MGI:1329013)
chr17	34980512	35010872	17q11.2-q12	17q12	600940	LIG3, MTDPS20	Ligase III, DNA, ATP-dependent	LIG3	3980	ENSG00000005156		Mitochondrial DNA depletion syndrome 20 (MNGIE type), 619780 (3), Autosomal recessive	Lig3 (MGI:109152)
chr17	35005990	35089226	17q12	17q12	609735	RFFL	RING finger and FYVE-like domain containing 1 (rififylin)	RFFL	117584	ENSG00000092871			Rffl (MGI:1914588)
chr17	35092221	35119860	17q11	17q12	602954	RAD51D, RAD51L3, BROVCA4	RAD51 paralog D	RAD51D	5892	ENSG00000185379		{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)	Rad51d (MGI:1261809)
chr17	35128730	35142303	17q12	17q12	620924	NLE1, HUSSY7	Notchless homolog 1	NLE1	54475	ENSG00000073536			Nle1 (MGI:2429770)
chr17	35147817	35189345	17q11	17q12	611220	UNC45B, SMUNC45, CTRCT43, MFM11	unc-45 myosin chaperone B	UNC45B	146862	ENSG00000141161	mutation identified in 1 CTRCT43 family	?Cataract 43, 616279 (3), Autosomal dominant; Myofibrillar myopathy 11, 619178 (3), Autosomal recessive	Unc45b (MGI:2443377)
chr17	35243072	35273655	17q12	17q12	614952	SLFN5	Schlafen family, member 5	SLFN5	162394	ENSG00000166750			Slfn5 (MGI:1329004)
chr17	35350305	35373621	17q12	17q12	614953	SLFN11	Schlafen family, member 11	SLFN11	91607	ENSG00000172716			Slfn8,Slfn9 (MGI:2445121,MGI:2672859)
chr17	35410922	35433174	17q12	17q12	614955	SLFN12	Schlafen family, member 12	SLFN12	55106	ENSG00000172123			Slfn1,Slfn2,Slfn3,Slfn4 (MGI:1313258,MGI:1313259,MGI:1329005,MGI:1329010)
chr17	35435096	35449766	17q12	17q12	614957	SLFN13	Schlafen family, member 13	SLFN13	146857	ENSG00000154760			Slfn8,Slfn9 (MGI:2445121,MGI:2672859)
chr17	35464254	35537678	17q12	17q12	614956	SLFN12L	Schlafen family, member 12-like	SLFN12L	100506736	ENSG00000205045			Slfn1,Slfn2,Slfn3,Slfn4 (MGI:1313258,MGI:1313259,MGI:1329005,MGI:1329010)
chr17	35543985	35560819	17q12	17q12	614958	SLFN14, BDPLT20	Schlafen family, member 14	SLFN14	342618	ENSG00000236320		Bleeding disorder, platelet-type, 20, 616913 (3), Autosomal dominant	Slfn14 (MGI:2684866)
chr17	35574795	35578571	17q12	17q12	601758	PEX12, PBD3A	Peroxisome biogenesis factor 12	PEX12	5193	ENSG00000108733		Peroxisome biogenesis disorder 3B, 266510 (3), Autosomal recessive; Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3), Autosomal recessive	Pex12 (MGI:2144177)
chr17	35587322	35726413	17q11.2-q12	17q12	601025	AP2B1, CLAPB1, ADTB2	Adaptor-related protein complex 2, beta 1 subunit	AP2B1	163	ENSG00000006125			Ap2b1 (MGI:1919020)
chr17	35731639	35743521	17q12	17q12	612128	RASL10B, RRP17	Ras-like, family 10, member B	RASL10B	91608	ENSG00000270885			Rasl10b (MGI:2685575)
chr17	35744511	35753239	17q12	17q12	611398	GAS2L2, GAR17, CILD41	Growth arrest-specific 2-like 2	GAS2L2	246176	ENSG00000270765	mutation identified in 1 CILD41 patient	?Ciliary dyskinesia, primary, 41, 618449 (3), Autosomal recessive	Gas2l2 (MGI:3652048)
chr17	35756249	35795641	17q11.2	17q12	608417	MMP28	Matrix metalloproteinase 28	MMP28	79148	ENSG00000271447			Mmp28 (MGI:2153062)
chr17	35809484	35847242	17q11.1-q11.2	17q12	601574	TAF15, TAF2N, RBP56	TAF15 RNA polymerase II, TATA box-binding protein-associated factor, 68kD	TAF15	8148	ENSG00000270647	fusion gene with CSMF	Chondrosarcoma, extraskeletal myxoid, 612237 (1)	Taf15 (MGI:1917689)
chr17	35871491	35880360	17q11.2-q12	17q12	187011	CCL5, SCYA5, D17S136E, TCP228	Chemokine, C-C motif, ligand 5	CCL5	6352	ENSG00000271503		{HIV-1 disease, rapid progression of}, 609423 (3); {HIV-1 disease, delayed progression of}, 609423 (3)	Ccl5 (MGI:98262)
chr17	35918080	35930773	17q11.2	17q12	612896	RDM1	RAD52 motif-containing protein 1	RDM1	201299	ENSG00000278023			Rdm1 (MGI:1913849)
chr17	35934518	35943713	17q11.2	17q12	612751	LYZL6	Lysozyme-like 6	LYZL6	57151	ENSG00000275722			Lyzl6 (MGI:1916694)
chr17	35976499	35981497	17q11.2	17q12	601394	CCL16, SCYA16, NCC4	Chemokine, C-C motif, ligand 16	CCL16	6360	ENSG00000275152			
chr17	35983288	35986729	17q11.2	17q12	601392	CCL14, SCYA14, NCC2	Chemokine, C-C motif, ligand 14	CCL14	6358	ENSG00000276409			
chr17	35997582	36001553	17q11.2	17q12	601393	CCL15, SCYA15, NCC3, LKN1	Chemokine, C-C motif, ligand 15	CCL15	6359	ENSG00000275718			Ccl6,Ccl9 (MGI:104533,MGI:98263)
chr17	36013058	36017972	17q12	17q12	602494	CCL23, SCYA23	Chemokine, C-C motif, ligand 23	CCL23	6368	ENSG00000274736			Ccl6,Ccl9 (MGI:104533,MGI:98263)
chr17	36064272	36072032	17q11.2	17q12	603757	CCL18, SCYA18, PARC, AMAC1, DCCK1	Chemokine, C-C motif, ligand 18	CCL18	6362	ENSG00000275385	in 47kb, CCL18-CCL3-CCL4		Ccl3 (MGI:98260)
chr17	36088256	36090143	17q12	17q12	182283	CCL3, SCYA3, MIP1A	Chemokine, C-C motif, ligand 3	CCL3	6348	ENSG00000277632	in 47kb, CCL18-CCL3-CCL4	{HIV infection, resistance to}, 609423 (2)	Ccl3 (MGI:98260)
chr17	36103827	36105614	17q12	17q12	182284	CCL4, SCYA4, ACT2, MIP1B, AT744.1	Chemokine, C-C motif, ligand 4	CCL4	6351	ENSG00000275302			Ccl4 (MGI:98261)
chr17	36165683	36176636	17q12	17q12	610144	TBC1D3B, PRC17	TBC1 domain family, member 3B	TBC1D3B	414059	ENSG00000274808			
chr17	36194869	36196758	17q12	17q12	609468	CCL3L3	Chemokine, CC motif, ligand 3-like 3	CCL3L3	414062	ENSG00000276085			Ccl3 (MGI:98260)
chr17	36211063	36212873	17q12	17q12	610757	CCL4L2	Chemokine, CC motif, ligand 4-like 2	CCL4L2	9560	ENSG00000276070			Ccl4 (MGI:98261)
chr17	36315397	36334759	17q12	17q12	610810	TBC1D3G	TBC1 domain family, member 3G	TBC1D3G	101060321	ENSG00000260287			
chr17	36377531	36388453	17q12	17q12	610811	TBC1D3H	TBC1 domain family, member 3H	TBC1D3H	729877	ENSG00000274226			
chr17	36428612	36439521	17q12	17q12	610809	TBC1D3F	TBC1 domain family, member 3F	TBC1D3F	84218	ENSG00000275954			
chr17	36486681	36499312	17q12	17q12	604500	ZNHIT3, TRIP3, PEHO	Zinc finger HIT domain-containing protein 3	ZNHIT3	9326	ENSG00000273611		PEHO syndrome, 260565 (3), Autosomal recessive	Znhit3 (MGI:3051596)
chr17	36495636	36544815	17q12	17q12	617379	MYO19, MYOHD1	Myosin XIX	MYO19	80179	ENSG00000278259			Myo19 (MGI:1913446)
chr17	36534987	36539303	17q12	17q12	610275	PIGW, HPMRS5	Phosphatidylinositol glycan, class W	PIGW	284098	ENSG00000277161		Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3), Autosomal recessive	Pigw (MGI:1917575)
chr17	36544919	36589848	17q12-q21.1	17q12	612275	GGNBP2, DIF3, LCRG1, LZK1	Gametogenetin-binding protein 2	GGNBP2	79893	ENSG00000278311			Ggnbp2 (MGI:2387356)
chr17	36591879	36600804	17q12	17q12	616159	DHRS11, SDR24C1	Short-chain dehydrogenase reductase family, member 11	DHRS11	79154	ENSG00000278535			Dhrs11 (MGI:2652816)
chr17	36601583	36634698	17q12	17q12	618099	MRM1	Mitochondrial ribosomal RNA methyltransferase 1	MRM1	79922	ENSG00000278619			Mrm1 (MGI:2443470)
chr17	36936785	36944612	17q12	17q12	601999	LHX1, LIM1	LIM/homeodomain protein LHX1	LHX1	3975	ENSG00000273706	previously mapped to 11p13-p12 by FISH		Lhx1 (MGI:99783)
chr17	36948954	37056871	17q11.2-q12	17q12	608463	AATF, CHE1	Apoptosis-antagonizing transcription factor	AATF	26574	ENSG00000275700			Aatf (MGI:1929608)
chr17	37084992	37406836	17q21	17q12	200350	ACACA, ACAC, ACC1, ACACAD	Acetyl-Coenzyme A carboxylase, alpha	ACACA	31	ENSG00000278540		Acetyl-CoA carboxylase deficiency, 613933 (3), Autosomal recessive	Acaca (MGI:108451)
chr17	37406886	37479725	17q12-q21	17q12	602276	TADA2A, TADA2L, ADA2A	Transcriptional adaptor 2A	TADA2A	6871	ENSG00000276234			Tada2a (MGI:2144471)
chr17	37488566	37513498	Chr.17	17q12	606618	DUSP14, MKP6	Dual-specificity phosphatase 14	DUSP14	11072	ENSG00000276023			Dusp14 (MGI:1927168)
chr17	37514807	37609418	17q12	17q12	607291	SYNRG, AP1GBP1, SYNG	Synergin, gamma	SYNRG	11276	ENSG00000275066			Synrg (MGI:1354742)
chr17	37609739	37643446	17q21.1	17q12	612500	DDX52, ROK1, HUSSY19	DExD-box helicase 52	DDX52	11056	ENSG00000278053			Ddx52 (MGI:1925644)
chr17	37686431	37745059	17q12	17q12	189907	HNF1B, TCF2, HNF2, RCAD, T2D, ADTKD3	HNF1 homeobox B (transcription factor 2)	HNF1B	6928	ENSG00000275410		Type 2 diabetes mellitus, 125853 (3), Autosomal dominant; Renal cysts and diabetes syndrome, 137920 (3), Autosomal dominant; {Renal cell carcinoma}, 144700 (3)	Hnf1b (MGI:98505)
chr17	38002322	38014908	17q12	17q12	610807	TBC1D3D	TBC1 domain family, member 3D	TBC1D3D	101060389	ENSG00000274419			
chr17	38057693	38070301	17q12	17q12	610806	TBC1D3C	TBC1 domain family, member 3C	TBC1D3C	414060	ENSG00000278299			
chr17	38124106	38138868	17q12	17q12	610808	TBC1D3E	TBC1 domain family, member 3E	TBC1D3E	102723859	ENSG00000278599			
chr17	38181659	38192555	17q12	17q12	607741	TBC1D3, PRC17, TBC1D3A	TBC1D3 gene	TBC1D3	729873	ENSG00000274611			
chr17	38297168	38323211	17q21.31	17q12	611850	MRPL45	Mitochondrial ribosomal protein L45	MRPL45	84311	ENSG00000278845	pseudogenes on 2 and 17		Mrpl45 (MGI:1914286)
chr17	38324571	38343956	17q12	17q12	614515	GPR179, GPR158L, GPR158L1, CSNB1E	G protein-coupled receptor 179	GPR179	440435	ENSG00000277399		Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3), Autosomal recessive	Gpr179 (MGI:2443409)
chr17	38351844	38405593	17q12	17q12	608788	SOCS7, NAP4	Suppressor of cytokine signaling 7	SOCS7	30837	ENSG00000274211			Socs7 (MGI:2651588)
chr17	38419275	38512385	17q12	17q12	610590	ARHGAP23, KIAA1501	RHO GTPase-activating protein 23	ARHGAP23	57636	ENSG00000275832			Arhgap23 (MGI:3697726)
chr17	38530031	38607025	17q12	17q12	610786	SRCIN1, SNIP, KIAA1684	Src kinase signaling inhibitor 1	SRCIN1	80725	ENSG00000277363			Srcin1 (MGI:1933179)
chr17	38671703	38674957	17q12	17q12	617795	EPOP, C17orf96	Elongin BC- and polycomb repressive complex 2-associated protein	EPOP	100170841	ENSG00000273604			Epop (MGI:2143991)
chr17	38705273	38729795	17q21	17q12	600328	MLLT6, AF17	Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6	MLLT6	4302	ENSG00000275023			Mllt6 (MGI:1935145)
chr17	38730341	38735605	17q12	17q12	611933	CISD3, MINER2	CDGSH iron sulfur domain protein 3	CISD3	284106	ENSG00000277972			Cisd3,Cisd3b (MGI:101788,MGI:5012452)
chr17	38733898	38749792	17q12	17q12	600346	PCGF2, RNF110, ZNF144, MEL18, TPFS	Polycomb group ring finger 2	PCGF2	7703	ENSG00000277258		Turnpenny-Fry syndrome, 618371 (3), Autosomal dominant	Pcgf2 (MGI:99161)
chr17	38752741	38764225	17q12	17q12	602176	PSMB3	Proteasome subunit, beta type, 3	PSMB3	5691	ENSG00000277791	previously assigned to 2q35		Psmb3 (MGI:1347014)
chr17	38765691	38799556	17q12	17q12	603261	PIP4K2B, PIP5P4KB, PIP5K2B	Phosphatidylinositol 5-phosphate 4-kinase, type II, beta	PIP4K2B	8396	ENSG00000276293			Pip4k2b (MGI:1934234)
chr17	38847860	38853721	17q	17q12	603662	RPL23	Ribosomal protein L23	RPL23	9349	ENSG00000125691			Rpl23 (MGI:1929455)
chr17	38870058	38921770	17q21	17q12	602920	LASP1, MLN50	LIM and SH3 protein 1	LASP1	3927	ENSG00000002834	fused to MLL in AML		Lasp1 (MGI:109656)
chr17	38925614	38929381	17q12	17q12	617544	LINC00672	Long intergenic noncoding RNA 672	LASP1NB	100505576	ENSG00000263874			
chr17	38936432	38967403	17q12	17q12	609498	FBXO47	F-box only protein 47	FBXO47	494188	ENSG00000204952			Fbxo47 (MGI:1920223)
chr17	39063313	39152967	17q21.1	17q12	606826	PLXDC1, TEM7	Plexin domain containing 1	PLXDC1	57125	ENSG00000161381			Plxdc1 (MGI:1919574)
chr17	39173453	39197669	17q21-q22	17q12	114207	CACNB1, CACNLB1, CCHLB1	Calcium channel, voltage-dependent, beta 1 subunit	CACNB1	782	ENSG00000067191			Cacnb1 (MGI:102522)
chr17	39200283	39204732	17q12	17q12	180466	RPL19	Ribosomal protein L19	RPL19	6143	ENSG00000108298			Rpl19 (MGI:98020)
chr17	39252663	39402556	17q21.2	17q12	609086	FBXL20, FBL20, FBL2, SCR	F-box and leucine-rich repeat protein 20	FBXL20	84961	ENSG00000108306			Fbxl20 (MGI:1919444)
chr17	39404285	39451263	17q12	17q12	604311	MED1, PPARBP, PBP, TRAP220	Mediator complex subunit 1 (peroxisome proliferator-activated receptor-binding protein)	MED1	5469	ENSG00000125686			Med1 (MGI:1100846)
chr17	39461486	39567559	17q21	17q12	615514	CDK12, CRKRS, CRK7, KIAA0904	Cyclin-dependent kinase 12	CDK12	51755	ENSG00000167258			Cdk12 (MGI:1098802)
chr17	39603768	39607920	17q12	17q12	601725	NEUROD2, DEE72	Neurogenic differentiation 2	NEUROD2	4761	ENSG00000171532		Developmental and epileptic encephalopathy 72, 618374 (3), Autosomal dominant	Neurod2 (MGI:107755)
chr17	39626707	39636624	17q12	17q12	604399	PPP1R1B, DARPP32	Protein phosphatase 1, regulatory subunit 1B	PPP1R1B	84152	ENSG00000131771			Ppp1r1b (MGI:94860)
chr17	39637144	39664201	17q11-q21	17q12	607048	STARD3, MLN64	Start domain-containing protein 3	STARD3	10948	ENSG00000131748			Stard3 (MGI:1929618)
chr17	39665349	39666554	17q12	17q12	604488	TCAP, LGMDR7, CMH25	Telethonin	TCAP	8557	ENSG00000173991		Cardiomyopathy, hypertrophic, 25, 607487 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3), Autosomal recessive	Tcap (MGI:1330233)
chr17	39668019	39670475	17q12	17q12	171190	PNMT, PENT	Phenylethanolamine N-methyltransferase	PNMT	5409	ENSG00000141744			Pnmt (MGI:97724)
chr17	39671122	39688057	17q12	17q12	611801	PGAP3, PERLD1, CAB2, MGC9753, HPMRS4	Post-GPI attachment to proteins 3	PGAP3	93210	ENSG00000161395		Hyperphosphatasia with impaired intellectual development syndrome 4, 615716 (3), Autosomal recessive	Pgap3 (MGI:2444461)
chr17	39688094	39728658	17q21.1	17q12	164870	ERBB2, NGL, NEU, HER2, VSCN2	Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)	ERBB2	2064	ENSG00000141736	mutation identified in 1 VSCN2 family	Gastric cancer, somatic, 613659 (3); Adenocarcinoma of lung, somatic, 211980 (3); Ovarian cancer, somatic, 167000 (3); ?Visceral neuropathy, familial, 2, autosomal recessive, 619465 (3), Autosomal recessive; Glioblastoma, somatic, 137800 (3)	Erbb2 (MGI:95410)
chr17	39728510	39730532	17q12	17q12	611802	MIEN1, C17orf37, RDX12	Migration and invasion enhancer 1	MIEN1	84299	ENSG00000141741			Mien1 (MGI:1913678)
chr17	39737938	39747285	17q21-q22	17q12	601522	GRB7	Growth factor receptor-bound protein 7	GRB7	2886	ENSG00000141738			Grb7 (MGI:102683)
chr17	39757715	39864312	17q21	17q12-q21.1	606221	IKZF3, ZNFN1A3, AIOLOS, IMD84	Ikaros family zinc finger 3	IKZF3	22806	ENSG00000161405	mutation identified in 1 IMD84 family	?Immunodeficiency 84, 619437 (3), Autosomal dominant	Ikzf3 (MGI:1342542)
chr17	39800001	52100000	17q21		611403	ASRT6	Asthma-related traits, susceptibility to, 6		100188840		strongly associated with rs7216389	{Asthma-related traits, susceptibility to, 6}, 611403 (2)	
chr17	39800001	52100000	17q21		610676	AUTS7	Autism, susceptibility to, 7		100188816		max lod at D17S2180	{Autism susceptibility 7}, 610676 (2)	
chr17	39800001	59500000	17q21-q22		608474	MYP5	Myopia 5		404682		between D17S787 and D17S1811	Myopia 5, 608474 (2), Autosomal dominant	
chr17	39800001	59500000	17q21-q22		168860	PTLAH, FPAH	Patella aplasia or hypoplasia		8830			Patella aplasia or hypoplasia, 168860 (2), Autosomal dominant	
chr17	39868202	39877896	17q12-q21	17q21.1	608499	ZPBP2, ZPBPL	Zona pellucida-binding protein 2	ZPBP2	124626	ENSG00000186075			Zpbp2 (MGI:1916626)
chr17	39904595	39918635	17q21	17q21.1	611221	GSDMB, GSDML	Gasdermin B	GSDMB	55876	ENSG00000073605			
chr17	39921041	39927601	17q21.1	17q21.1	610075	ORMDL3	ORM1-like protein 3	ORMDL3	94103	ENSG00000172057			Ormdl3 (MGI:1913862)
chr17	39963004	39977768	17q12	17q21.1	611218	GSDMA, GSDM1, GSDM	Gasdermin A	GSDMA	284110	ENSG00000167914			Gsdma,Gsdma2,Gsdma3 (MGI:1889509,MGI:1921490,MGI:3044668)
chr17	39980807	39997959	17q21.1	17q21.1	617676	PSMD3, RPN3	Proteasome 26S subunit, non-ATPase, 3	PSMD3	5709	ENSG00000108344			Psmd3 (MGI:98858)
chr17	40015440	40017813	17q11.2-q12	17q21.1	138970	CSF3, GCSF	Colony-stimulating factor-3 (granulocyte)	CSF3	1440	ENSG00000108342			Csf3 (MGI:1339751)
chr17	40019104	40054408	17q21.1	17q21.1	607000	MED24, TRAP100, KIAA0130	Mediator complex subunit 24	MED24	9862	ENSG00000008838			Med24 (MGI:1344385)
chr17	40062193	40093867	17q11.2	17q21.1	190120	THRA, ERBA1, THRA1, CHNG6	Thyroid hormone receptor, alpha (oncogene ERBA1)	THRA	7067	ENSG00000126351		Hypothyroidism, congenital, nongoitrous, 6, 614450 (3), Autosomal dominant	Thra (MGI:98742)
chr17	40092793	40100589	17q11.2	17q21.1	602408	NR1D1, THRAL, EAR1	Nuclear receptor 1, subfamily D, member 1 (thyroid hormone receptor, alpha-1-like)	NR1D1	9572	ENSG00000126368			Nr1d1 (MGI:2444210)
chr17	40121971	40136917	17q21.1	17q21.1	614801	MSL1	MSL complex subunit 1	MSL1	339287	ENSG00000188895			Msl1 (MGI:1921276)
chr17	40140537	40172171	17q12-q21.3	17q21.1	606504	MLN51, CASC3	MLN51 gene	CASC3	22794	ENSG00000108349			Casc3 (MGI:2179723)
chr17	40200001	42800000	17q21.2		612380	IBD22	Inflammatory bowel disease 22		100240732		associated with rs744166	{Inflammatory bowel disease 22}, 612380 (2)	
chr17	40219304	40284136	17q21.2	17q21.2	609692	WIRE, WICH	WASP-interacting protein-related protein	WIPF2	147179	ENSG00000171475			Wipf2 (MGI:1924462)
chr17	40287879	40304657	17q21.2	17q21.2	602627	CDC6, CDC18L, MGORS5	Cell division cycle 6	CDC6	990	ENSG00000094804		Meier-Gorlin syndrome 5, 613805 (3), Autosomal recessive	Cdc6 (MGI:1345150)
chr17	40309180	40357643	17q21.1	17q21.2	180240	RARA	Retinoic acid receptor, alpha polypeptide	RARA	5914	ENSG00000131759	fused with MYL in APL	Leukemia, acute promyelocytic, 612376 (1)	Rara (MGI:97856)
chr17	40360652	40364737	17q21.1	17q21.2	607425	GJD3, GJC1, CX31.9	Gap junction protein, delta-3 (31.9kD)	GJD3	125111	ENSG00000183153			Gjd3 (MGI:2384150)
chr17	40388525	40417896	17q21-q22	17q21.2	126430	TOP2A, TOP2	Topoisomerase (DNA) II, alpha, 170kD	TOP2A	7153	ENSG00000131747		DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)	Top2a (MGI:98790)
chr17	40443450	40457725	17q12-q21	17q21.2	146733	IGFBP4	Insulin-like growth factor-binding protein-4	IGFBP4	3487	ENSG00000141753			Igfbp4 (MGI:96439)
chr17	40475834	40501623	17q12-q21	17q21.2	608385	TNS4, CTEN	Tensin 4	TNS4	84951	ENSG00000131746			Tns4 (MGI:2144377)
chr17	40553769	40565472	17q12-q21.2	17q21.2	600242	CCR7, CMKBR7, EBI1	Chemokine (C-C) receptor 7 (Epstein-Barr virus induced gene 1)	CCR7	1236	ENSG00000126353			Ccr7 (MGI:103011)
chr17	40624962	40647818	17q21.2	17q21.2	603111	SMARCE1, BAF57, CSS5	SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily E, member 1	SMARCE1	6605	ENSG00000073584		{Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant; Coffin-Siris syndrome 5, 616938 (3), Autosomal dominant	Smarce1 (MGI:1927347)
chr17	40697991	40703752	17q11.2	17q21.2	607742	KRT24, FLJ20261	Keratin 24	KRT24	192666	ENSG00000167916			Krt24 (MGI:1922956)
chr17	40748021	40755542	17q21.2	17q21.2	616646	KRT25, K25, KRT24IRS1, ARWH3	Keratin 25, type I	KRT25	147183	ENSG00000204897		Woolly hair, autosomal recessive 3, 616760 (3), Autosomal recessive	Krt25 (MGI:1918060)
chr17	40766238	40772201	17q21.2	17q21.2	616675	KRT26, K25, K25B, K25IRS2	Keratin 26, type I	KRT26	353288	ENSG00000186393			Krt26 (MGI:2444913)
chr17	40776808	40782550	17q21.2	17q21.2	616676	KRT27, KRT25C, K25IRS3	Keratin 27, type I	KRT27	342574	ENSG00000171446			Krt27 (MGI:1339999)
chr17	40792196	40799959	17q21.2	17q21.2	616677	KRT28, K25D, K25IRS4	Keratin 28, type I	KRT28	162605	ENSG00000173908			Krt28 (MGI:1918093)
chr17	40818117	40822614	17q21-q22	17q21.2	148080	KRT10, EHK2A, EHK2B, BCIE, BIE, IHL	Keratin 10	KRT10	3858	ENSG00000186395	mutation identified in 1 IHL family	Ichthyosis, annular epidermolytic 1, 607602 (3), Autosomal dominant; Epidermolytic hyperkeratosis 2B, autosomal recessive, 620707 (3), Autosomal recessive; Epidermolytic hyperkeratosis 2A, autosomal dominant, 620150 (3), Autosomal dominant; ?Ichthyosis histrix, Lambert type, 146600 (3), Autosomal dominant; Ichthyosis with confetti, 609165 (3), Autosomal dominant	Krt10 (MGI:96685)
chr17	40861303	40867223	17q12	17q21.2	601687	KRT12, MECD1	Keratin 12	KRT12	3859	ENSG00000187242		Meesmann corneal dystrophy 1, 122100 (3), Autosomal dominant	Krt12 (MGI:96687)
chr17	40875889	40885242	17q12-q21	17q21.2	608218	KRT20, CD20, KRT21	Keratin 20	KRT20	54474	ENSG00000171431			Krt20 (MGI:1914059)
chr17	40922700	40937646	17q21.2	17q21.2	606194	KRT23	Keratin 23	KRT23	25984	ENSG00000108244			Krt23 (MGI:2148866)
chr17	40958417	40966948	17q21.2	17q21.2	616678	KRT39	Keratin 38, type I	KRT39	390792	ENSG00000196859			Krt39 (MGI:3588208)
chr17	40977715	40987135	17q21.2	17q21.2	616679	KRT40, KA36	Keratin 40, type I	KRT40	125115	ENSG00000204889			Krt40 (MGI:3629968)
chr17	41026026	41027208	17q12-q21	17q21.2	608822	KRTAP-15, KAP1.5	Keratin-associated protein 1-5	KRTAP1-5	83895	ENSG00000221852			Krtap1-3,Krtap1-4,Krtap1-5 (MGI:1916914,MGI:3650443,MGI:3651229)
chr17	41029351	41030195	17q12-q21	17q21.2	608821	KRTAP1-4, KAP1.4	Keratin-associated protein 1-4	KRTAP1-4	728255	ENSG00000204887			Krtap1-3,Krtap1-4,Krtap1-5 (MGI:1916914,MGI:3650443,MGI:3651229)
chr17	41033884	41034874	17q12-q21	17q21.2	608820	KRTAP1-3, KAP1.3, KAP1.2, KAP1.9	Keratin-associated protein 1-3	KRTAP1-3	81850	ENSG00000221880			Krtap1-3,Krtap1-4,Krtap1-5,Krtap9-3 (MGI:1916914,MGI:1922836,MGI:3650443,MGI:3651229)
chr17	41040541	41041450	17q12-q21	17q21.2	608819	KRTAP1-1, KAP1.1, KAP1.7, KAP1.6	Keratin-associated protein 1-1	KRTAP1-1	81851	ENSG00000188581			Krtap1-3,Krtap1-4,Krtap1-5 (MGI:1916914,MGI:3650443,MGI:3651229)
chr17	41346092	41350828	17q12-q21	17q21.2	602761	KRT33A, KRTHA3A, HA3I	Keratin 33A	KRT33A	3883	ENSG00000006059			Krt33a (MGI:1919138)
chr17	41363498	41369813	17q12-q21	17q21.2	602762	KRT33B, KRTHA3A, HA3II	Keratin 33B	KRT33B	3884	ENSG00000131738			Krt33b (MGI:1309991)
chr17	41377669	41383816	17q12-q21	17q21.2	602763	KRT34, KRTHA4, HA4	Keratin 34	KRT34	3885	ENSG00000131737			Krt33a,Krt33b,Krt34 (MGI:1309991,MGI:1309994,MGI:1919138)
chr17	41393721	41397608	17q12-q21	17q21.2	601077	KRT31, KRTHA1, HA1	Keratin 31	KRT31	3881	ENSG00000094796			Krt31,Krt33a,Krt33b (MGI:1309991,MGI:1309993,MGI:1919138)
chr17	41420547	41424585	17q12-q21	17q21.2	604541	KRT37, KRTHA7, HA7	Keratin 37	KRT37	8688	ENSG00000108417			
chr17	41436154	41440983	17q12-q21	17q21.2	604542	KRT38,  KRTHA8, HA8	Keratin 38	KRT38	8687	ENSG00000171360			
chr17	41459513	41467386	17q12-q21	17q21.2	602760	KRT32, KRTHA2, HA2	Keratin 32	KRT32	3882	ENSG00000108759			Krt32 (MGI:1309995)
chr17	41476710	41481151	17q12-q21	17q21.2	602764	KRT35, KRTHA5	Keratin 35	KRT35	3886	ENSG00000197079			Krt35 (MGI:1858899)
chr17	41486136	41489910	17q12-q21	17q21.2	604540	KRT36, KRTHA6, HA6	Keratin 36	KRT36	8689	ENSG00000126337			Krt36 (MGI:109364)
chr17	41500981	41505612	17q21.2	17q21.2	148065	KRT13, WSN2	Keratin 13	KRT13	3860	ENSG00000171401	in same PFGE fragment as KRT10, KRT15	White sponge nevus 2, 615785 (3), Autosomal dominant	Krt13 (MGI:101925)
chr17	41513745	41518890	17q21-q22	17q21.2	148030	KRT15	Keratin 15	KRT15	3866	ENSG00000171346	tightly linked to Hox-2 in mouse		Krt15 (MGI:96689)
chr17	41523617	41528308	17q21.2	17q21.2	148020	KRT19	Keratin 19	KRT19	3880	ENSG00000171345			Krt19 (MGI:96693)
chr17	41549606	41554495	17q21.2	17q21.2	620053	LINC00974	Long intergenic noncoding RNA 974	LINC00974	147093	ENSG00000226629			
chr17	41565836	41572059	17q12-q21	17q21.2	607606	KRT9, EPPK1	Keratin 9	KRT9	3857	ENSG00000171403		Palmoplantar keratoderma, epidermolytic, 1, 144200 (3), Autosomal dominant	Krt9 (MGI:96696)
chr17	41582279	41586895	17q21.1	17q21.2	148066	KRT14, EBS1A, EBS1B, EBS1C, EBS1D	Keratin 14	KRT14	3861	ENSG00000186847		Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, 601001 (3), Autosomal recessive; Epidermolysis bullosa simplex 1C, localized, 131800 (3), Autosomal dominant; Dermatopathia pigmentosa reticularis, 125595 (3), Autosomal dominant; Epidermolysis bullosa simplex 1A, generalized severe, 131760 (3), Autosomal dominant; Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3), Autosomal dominant; Epidermolysis bullosa simplex 1B, generalized intermediate, 131900 (3), Autosomal dominant	Krt14 (MGI:96688)
chr17	41609778	41612767	17q12-q21	17q21.2	148067	KRT16, FNEPPK, PC1	Keratin 16	KRT16	3868	ENSG00000186832	probably 17q21-q22	Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3), Autosomal dominant; Pachyonychia congenita 1, 167200 (3), Autosomal dominant	Krt16 (MGI:96690)
chr17	41619442	41624575	17q12-q21	17q21.2	148069	KRT17, PC2, PCHC1	Keratin 17	KRT17	3872	ENSG00000128422	~5' to KRT16; probably 17q21-q22	Steatocystoma multiplex, 184500 (3), Autosomal dominant; Pachyonychia congenita 2, 167210 (3), Autosomal dominant	Krt17 (MGI:96691)
chr17	41688885	41692668	17q21.2	17q21.2	619901	EIF1, SUI1, A121	Eukaryotic translation initiation factor 1	EIF1	10209	ENSG00000173812			Eif1 (MGI:105125)
chr17	41712331	41715969	17q21	17q21.2	137250	GAST, GAS	Gastrin	GAST	2520	ENSG00000184502			Gast (MGI:104768)
chr17	41717739	41734646	17q21.2-q21.3	17q21.2	600947	HAP1, HLP, HAP2	Huntingtin-associated protein 1 (neuroan 1)	HAP1	9001	ENSG00000173805			Hap1 (MGI:1261831)
chr17	41754609	41786711	17q21	17q21.2	173325	JUP, DP3, PDGB, ARVD12	Junction plakoglobin	JUP	3728	ENSG00000173801	mutation identified in 1 ARVD12 family	Naxos disease, 601214 (3), Autosomal recessive; ?Arrhythmogenic right ventricular dysplasia 12, 611528 (3), Autosomal dominant	Jup (MGI:96650)
chr17	41801953	41811949	17q21.2	17q21.2	617419	P3H4, SC65, LEPREL4	Proyly 3-hydroxylase 4	P3H4	10609	ENSG00000141696			P3h4 (MGI:1913430)
chr17	41813004	41823213	17q21.2	17q21.2	607063	FKBP10, FKBP65, OI11, BRKS1	FK506-binding protein 10	FKBP10	60681	ENSG00000141756		Osteogenesis imperfecta, type XI, 610968 (3), Autosomal recessive; Bruck syndrome 1, 259450 (3), Autosomal recessive	Fkbp10 (MGI:104769)
chr17	41825057	41836232	17q21.2	17q21.2	620041	NT5C3B, NT5C3L, CNIIIL	5'-nucleotidase, cytosolic IIIb	NT5C3B	115024	ENSG00000141698			Nt5c3b (MGI:1915356)
chr17	41835685	41848384	17q21.2	17q21.2	608778	KLHL10, SPGF11	Kelch-like 10	KLHL10	317719	ENSG00000161594		Spermatogenic failure 11, 615081 (3), Autosomal dominant	Klhl10 (MGI:2181067)
chr17	41848518	41865423	17q21.2	17q21.2	619078	KLHL11	Kelch-like family, member 11	KLHL11	55175	ENSG00000178502			Klhl11 (MGI:2388648)
chr17	41866917	41930545	17q21.1	17q21.2	108728	ACLY	ATP citrate lyase	ACLY	47	ENSG00000131473			Acly (MGI:103251)
chr17	41930617	41966503	17q21.2	17q21.2	617095	ODAD4, TTC25, CILD35	Outer dynein arm docking complex subunit 4	ODAD4	83538	ENSG00000204815		Ciliary dyskinesia, primary, 35, 617092 (3), Autosomal recessive	Odad4 (MGI:1921657)
chr17	41966795	41977740	17q21	17q21.2	123830	CNP, CNP1, HLD20	2', 3' cyclic nucleotide 3' phosphohydrolase	CNP	1267	ENSG00000173786	mutation identified in 1 HLD20 family	?Leukodystrophy, hypomyelinating, 20, 619071 (3), Autosomal recessive	Cnp (MGI:88437)
chr17	41976435	42017439	17q11-q23	17q21.2	601964	DANJC7, TTC2, TPR2	DnaJ, E. coli, homolog of, subfamily C, member 7 (tetratricopeptide repeat domain 2)	DNAJC7	7266	ENSG00000168259			Dnajc7 (MGI:1928373)
chr17	42017576	42025641	17q21.1	17q21.2	604497	NKIRAS2, KBRAS2	NFKB inhibitor-interacting Ras-like protein 2	NKIRAS2	28511	ENSG00000168256			Nkiras2 (MGI:1919216)
chr17	42025576	42098473	17q21.2	17q21.2	620982	ZNF385C	Zinc finger protein 385C	ZNF385C	201181	ENSG00000187595			Zfp385c (MGI:3608347)
chr17	42101411	42112714	17q21.2	17q21.2	608588	DHX58, LGP2, D11LGP2	DExH-box helicase 58	DHX58	79132	ENSG00000108771			Dhx58 (MGI:1931560)
chr17	42113111	42121367	17q21	17q21.2	602301	KAT2A, GCN5L2, GCN5	K(lysine) acetyltransferase 2A	KAT2A	2648	ENSG00000108773			Kat2a (MGI:1343101)
chr17	42122804	42123352	17q21.2	17q21.2	608344	HSPB9	Heat-shock 27kD protein 9	HSPB9	94086	ENSG00000260325			Hspb9 (MGI:1922732)
chr17	42124979	42154989	17q21.2	17q21.2	604037	RAB5C, RABL	Ras-associated protein RAB5c	RAB5C	5878	ENSG00000108774			Rab5c (MGI:105306)
chr17	42156891	42181142	17q21.2	17q21.2	604528	KCNH4, BEC2	Potassium channel, voltage-gated, subfamily H, member 4	KCNH4	23415	ENSG00000089558			Kcnh4 (MGI:2156184)
chr17	42184060	42185452	17q21	17q21.2	602358	HCRT, OX, NRCLP1	Hypocretin	HCRT	3060	ENSG00000161610	mutation identified in 1 NRCLP1 patient	?Narcolepsy 1, 161400 (3), Autosomal dominant	Hcrt (MGI:1202306)
chr17	42189087	42194494	17q21.2	17q21.2	608587	GHDC, LGP1	GH3 domain-containing protein	GHDC	84514	ENSG00000167925			Ghdc (MGI:1931556)
chr17	42199177	42288370	17q11.2	17q21.2	604260	STAT5B, GHISID2	Signal transducer and activator of transcription 5B	STAT5B	6777	ENSG00000173757	fused with RARA in PML	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, 245590 (3), Autosomal recessive; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, 618985 (3), Autosomal dominant	Stat5b (MGI:103035)
chr17	42287439	42311943	17q21.2	17q21.2	601511	STAT5A, STAT5, MGF	Signal transducer and activator of transcription 5a	STAT5A	6776	ENSG00000126561			Stat5a (MGI:103036)
chr17	42313324	42388442	17q21	17q21.2	102582	STAT3, APRF, HIES, ADMIO1	Signal transducer and activator of transcription-3 (acute-phase response factor)	STAT3	6774	ENSG00000168610		Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections, 147060 (3), Autosomal dominant; Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3), Autosomal dominant	Stat3 (MGI:103038)
chr17	42402449	42423256	17q21	17q21.2	603198	CAVIN1, PTRF	Caveolae-associated protein 1	CAVIN1	284119	ENSG00000177469		Lipodystrophy, congenital generalized, type 4, 613327 (3), Autosomal recessive	Cavin1 (MGI:1277968)
chr17	42458878	42522579	17q21	17q21.2	192130	ATP6V0A1, ATP6N1A, VPP1, DEE104, NEDEBA	ATPase, H+ transporting, V0 subunit A1	ATP6V0A1	535	ENSG00000033627		Neurodevelopmental disorder with epilepsy and brain atrophy, 619971 (3), Autosomal recessive; Developmental and epileptic encephalopathy 104, 619970 (3), Autosomal dominant	Atp6v0a1 (MGI:103286)
chr17	42536241	42544449	17q21	17q21.2	609701	NAGLU, MPS3B, CMT2V	N-acetylglucosaminidase, alpha-	NAGLU	4669	ENSG00000108784	mutation identified in 1 CMT2V family	?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3), Autosomal dominant; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3), Autosomal recessive	Naglu (MGI:1351641)
chr17	42552923	42555214	17q21.2	17q21.2	109684	HSD17B1, EDH17B2	Estradiol 17-beta-dehydrogenase-1	HSD17B1	3292	ENSG00000108786			Hsd17b1 (MGI:105077)
chr17	42562148	42566277	17q12-q21	17q21.2	609855	COASY, NBIA6, PCH12	Coenzyme A synthase	COASY	80347	ENSG00000068120		Pontocerebellar hypoplasia, type 12, 618266 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 6, 615643 (3), Autosomal recessive	Coasy (MGI:1918993)
chr17	42567100	42573203	17q21.1	17q21.2	602976	MLX, TCFL4	MAX-like protein X	MLX	6945	ENSG00000108788			Mlx (MGI:108398)
chr17	42572310	42577831	17q21.2	17q21.2	608665	PSMC3IP, TBPIP, GT198, HOP2, ODG3	PSMC3-interacting protein	PSMC3IP	29893	ENSG00000131470		Ovarian dysgenesis 3, 614324 (3), Autosomal recessive	Psmc3ip (MGI:1098610)
chr17	42579508	42609427	17q21.2	17q21.2	616498	FAM134C	Family with sequence similarity 134, member C	RETREG3	162427	ENSG00000141699			Retreg3 (MGI:1915248)
chr17	42609683	42615238	17q21	17q21.2	191135	TUBG1, CDCBM4	Tubulin, gamma 1	TUBG1	7283	ENSG00000131462		Cortical dysplasia, complex, with other brain malformations 4, 615412 (3), Autosomal dominant	Tubg1 (MGI:101834)
chr17	42659284	42667006	17q21	17q21.2	605785	TUBG2	Tubulin, gamma 2	TUBG2	27175	ENSG00000037042	pseudogene on chr. 7		Tubg2 (MGI:2144208)
chr17	42678889	42681843	17q21.2	17q21.2	600240	CCR10, GPR2	Chemokine (C-C) receptor 10	CCR10	2826	ENSG00000184451			Ccr10 (MGI:1096320)
chr17	42682531	42699993	17q21	17q21.2	602346	CNTNAP1, CASPR, P190, CHN3	Contactin-associated protein 1	CNTNAP1	8506	ENSG00000108797		Lethal congenital contracture syndrome 7, 616286 (3), Autosomal recessive; Hypomyelinating neuropathy, congenital, 3, 618186 (3), Autosomal recessive	Cntnap1 (MGI:1858201)
chr17	42700275	42745040	17q21.1-q21.3	17q21.2	601674	EZH1	Enhancer of zeste, Drosophila, homolog of, 1	EZH1	2145	ENSG00000108799			Ezh1 (MGI:1097695)
chr17	42761227	42763041	17q12-q21.1	17q21.2	605154	RAMP2	Receptor activity-modifying protein 2	RAMP2	10266	ENSG00000131477			Ramp2 (MGI:1859650)
chr17	42773449	42779599	17q21.3	17q21.2	610907	VPS25, FAP20	Vacuolar protein sorting 25 homolog	VPS25	84313	ENSG00000131475			Vps25 (MGI:106354)
chr17	42780610	42797066	17q21-q22	17q21.2	601844	WNK4, PRKWNK4, PHA2B	WNK lysine deficient protein kinase 4	WNK4	65266	ENSG00000126562		Pseudohypoaldosteronism, type IIB, 614491 (3), Autosomal dominant	Wnk4 (MGI:1917097)
chr17	42797625	42798704	17q21.31	17q21.2	614775	COA3, CCDC56, MC4DN14	Cytochrome c oxidase assembly factor 3	COA3	28958	ENSG00000183978	mutation identified in 1 MC4DN14 patient	?Mitochondrial complex IV deficiency, nuclear type 14, 619058 (3), Autosomal recessive	Coa3 (MGI:1098757)
chr17	42798785	42811587	17q21.2-q21.31	17q21.2-q21.31	618166	CNTD1, COSA1	Cyclin N-terminal domain-containing protein 1	CNTD1	124817	ENSG00000176563			Cntd1 (MGI:1923965)
chr17	42800001	46800000	17q21.31		613533	DUP17q21.31, C17DUPq21.31	Chromosome 17q21.31 duplication syndrome				contiguous gene duplication syndrome	Chromosome 17q21.31 duplication syndrome, 613533 (4)	
chr17	42800001	52100000	17q21.3		603279	ERDA1	Expanded repeat domain, CAG/CTG, 1		9030		no apparent pathology		
chr17	42800001	59500000	17q21.31-q22		615162	MRT35	Intellectual developmental disorder, autosomal recessive 35		101409266		between rs4792947 and rs11079258	Intellectual developmental disorder, autosomal recessive 35, 615162 (2), Autosomal recessive	
chr17	42800001	46800000	17q21.31		239100	VBCH	Van Buchem disease				52-kb deletion 35 kb downlstream of SOST	van Buchem disease, 239100 (4), Autosomal recessive	
chr17	42810132	42824282	17q21	17q21.31	604378	BECN1	Beclin 1	BECN1	8678	ENSG00000126581			Becn1 (MGI:1891828)
chr17	42833397	42843760	17q12-q21	17q21.31	605129	PSME3, PA28G	Proteasome activator subunit 3	PSME3	10197	ENSG00000131467			Psme3 (MGI:1096366)
chr17	42844580	42850707	17q21	17q21.31	602268	AOC2, RAO	Amine oxidase, copper-containing, 2	AOC2	314	ENSG00000131480			Aoc2 (MGI:2668431)
chr17	42851199	42858124	17q21	17q21.31	603735	AOC3, HPAO, VAP1	Amine oxidase, copper-containing 3	AOC3	8639	ENSG00000131471			Aoc3 (MGI:1306797)
chr17	42900799	42914438	17q21	17q21.31	613742	G6PC, G6PT	Glucose-6-phosphatase, catalytic	G6PC1	2538	ENSG00000131482		Glycogen storage disease Ia, 232200 (3), Autosomal recessive	G6pc1 (MGI:95607)
chr17	42950526	42964454	17q21.31	17q21.31	613212	AARSD1	Alanyl-tRNA synthetase domain-containing 1	AARSD1	80755	ENSG00000266967			Aarsd1 (MGI:1916934)
chr17	42980565	42995142	17q21.31	17q21.31	619250	RUNDC1, RUND1	RUN domain-containing protein 1	RUNDC1	146923	ENSG00000198863			Rundc1 (MGI:2144506)
chr17	42998273	43002959	17q21.1-q21.2	17q21.31	607526	RPL27, DBA16	Ribosomal protein L27	RPL27	6155	ENSG00000131469	mutation identified in 1 DBA16 patient	?Diamond-Blackfan anemia 16, 617408 (3), Autosomal dominant	Rpl27 (MGI:98036)
chr17	43006784	43014456	17q21	17q21.31	600735	IFI35	Interferon-induced protein-35	IFI35	3430	ENSG00000068079			Ifi35 (MGI:1917360)
chr17	43014607	43022385	17q21	17q21.31	604631	VAT1	Vesicle amine transport protein 1	VAT1	10493	ENSG00000108828			Vat1 (MGI:1349450)
chr17	43025231	43032041	17q21	17q21.31	601555	RND2, ARHN, RHO7	Ras homolog gene family, member N (GTP-binding protein Rho7)	RND2	8153	ENSG00000108830			Rnd2 (MGI:1338755)
chr17	43044295	43170327	17q21	17q21.31	113705	BRCA1, PSCP, BROVCA1, PNCA4, FANCS	BRCA1 DNA repair-associated protein	BRCA1	672	ENSG00000012048		Fanconi anemia, complementation group S, 617883 (3), Autosomal recessive; {Breast-ovarian cancer, familial, 1}, 604370 (3), Multifactorial, Autosomal dominant; {Pancreatic cancer, susceptibility to, 4}, 614320 (3)	Brca1 (MGI:104537)
chr17	43125557	43153671	17q21.31	17q21.31	618708	NBR2	Neighbor of BRCA1 gene 2, noncoding	NBR2	10230	ENSG00000198496	Head-to-head orientation with BRCA1		
chr17	43170409	43211688	17q21.1	17q21.31	166945	NBR1, M17S2	NBR1 autophagy cargo receptor	NBR1	4077	ENSG00000188554			Nbr1 (MGI:108498)
chr17	43233790	43233977	17q21-q22	17q21.31	180690	RNU2-1, RNU2	RNA, U2 small nuclear, 1	RNU2-1	6066	ENSG00000274585			
chr17	43398993	43401137	17q12-q21	17q21.31	600732	ARL4D, ARF4L	ADP ribosylation factor-like GTPase 4D	ARL4D	379	ENSG00000175906			Arl4d (MGI:1933155)
chr17	43483975	43544799	17q21.31	17q21.31	600396	DHX8, DDX8, HRH1	DEAH-box helicase 8	DHX8	1659	ENSG00000067596			Dhx8 (MGI:1306823)
chr17	43527846	43546340	17q21	17q21.31	600711	ETV4	ETS variant transcription factor 4	ETV4	2118	ENSG00000175832			Etv4 (MGI:99423)
chr17	43640389	43661922	17q21	17q21.31	600147	MEOX1, MOX1, KFS2	Mesenchyme homeobox 1	MEOX1	4222	ENSG00000005102		Klippel-Feil syndrome 2, 214300 (3), Autosomal recessive	Meox1 (MGI:103220)
chr17	43753738	43758791	17q12-q21	17q21.31	605740	SOST, VBCH, CDD, SOST1	Sclerostin	SOST	50964	ENSG00000167941		Sclerosteosis 1, 269500 (3), Autosomal recessive; Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3), Autosomal dominant	Sost (MGI:1921749)
chr17	43766125	43778977	17q21	17q21.31	600183	DUSP3, VHR	Dual specificity phosphatase-3 (vaccinia virus phosphatase VH1-related)	DUSP3	1845	ENSG00000108861			Dusp3 (MGI:1919599)
chr17	43780435	43787620	17q21.31	17q21.31	619866	CFAP97D1	CFAP97 domain-containing protein 1	CFAP97D1	284067	ENSG00000231256			Cfap97d1 (MGI:1922687)
chr17	43800811	43833146	17q12-q21	17q21.31	601114	MPP3, DLG3	Membrane protein, palmitoylated-3 (MAGUK p55 subfamily member 3)	MPP3	4356	ENSG00000161647			Mpp3 (MGI:1328354)
chr17	43847176	43863639	17q21.31	17q21.31	610520	CD300LG, TREM4, CLM9	CD300 antigen-like family, member G	CD300LG	146894	ENSG00000161649			Cd300lg (MGI:1289168)
chr17	43875360	43909711	17q12-q21	17q21.31	600723	MPP2, DLG2	Membrane protein, palmitoylated-2 (MAGUK p55 subfamily member 2)	MPP2	4355	ENSG00000108852			Mpp2 (MGI:1858257)
chr17	43940804	43944215	17q12-q21	17q21.31	167780	PPY	Pancreatic polypeptide	PPY	5539	ENSG00000108849	in rat, close to GH		Ppy (MGI:97753)
chr17	43952733	44004445	17q21	17q21.31	600781	PYY	Peptide YY	PYY	5697	ENSG00000131096	10kb from PPY		Pyy (MGI:99924)
chr17	44004622	44009068	17q21.31	17q21.31	608300	NAGS	N-acetylglutamate synthase	NAGS	162417	ENSG00000161653		N-acetylglutamate synthase deficiency, 237310 (3), Autosomal recessive	Nags (MGI:2387600)
chr17	44034328	44067587	17q21.31	17q21.31	611793	LSM12	LSM12 homolog	LSM12	124801	ENSG00000161654			Lsm12 (MGI:1919592)
chr17	44070673	44076344	17q21	17q21.31	611045	G6PC3, UGRP, SCN4	Glucose-6-phosphatase, catalytic, 3	G6PC3	92579	ENSG00000141349		Dursun syndrome, 612541 (3), Autosomal recessive; Neutropenia, severe congenital 4, autosomal recessive, 612541 (3), Autosomal recessive	G6pc3 (MGI:1915651)
chr17	44076753	44123641	17q21	17q21.31	605315	HDAC5	Histone deacetylase 5	HDAC5	10014	ENSG00000108840			Hdac5 (MGI:1333784)
chr17	44141930	44162476	17q21.31	17q21.31	618611	HROB, MCM8IP, C17orf53, ODG11	Homologous recombination factor with OB-fold	HROB	78995	ENSG00000125319		Ovarian dysgenesis 11, 620897 (3), Autosomal recessive	Hrob (MGI:2387601)
chr17	44170704	44179084	17q21.31	17q21.31	615056	ASB16	Ankyrin repeat- and SOCS box-containing protein 16	ASB16	92591	ENSG00000161664			Asb16 (MGI:2654437)
chr17	44191805	44199884	17q21.31	17q21.31	619010	ATXN7L3, SGF11	ATNX7-like 3	ATXN7L3	56970	ENSG00000087152			Atxn7l3 (MGI:3036270)
chr17	44205040	44221304	17q21.3	17q21.31	600673	UBTF, UBF, CONDBA	Upstream binding transcription factor, RNA polymerase I	UBTF	7343	ENSG00000108312		Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3), Autosomal dominant	Ubtf (MGI:98512)
chr17	44226963	44230072	17q21-q22	17q21.31	600739	SHC1P2, SHCL1	SHC adaptor protein 1 pseudogene 2	SHC1P2	6466				
chr17	44248390	44268135	17q21-q22	17q21.31	109270	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	SLC4A1	6521	ENSG00000004939		[Blood group, Swann], 601550 (3); [Blood group, Wright], 112050 (3); Distal renal tubular acidosis 1, 179800 (3), Autosomal dominant; [Blood group, Waldner], 112010 (3); Spherocytosis, type 4, 612653 (3), Autosomal dominant; [Blood group, Froese], 601551 (3); Distal renal tubular acidosis 4 with hemolytic anemia, 611590 (3), Autosomal recessive; {Malaria, resistance to}, 611162 (3); Cryohydrocytosis, 185020 (3), Autosomal dominant; Ovalocytosis, SA type, 166900 (3), Autosomal dominant; [Blood group, Diego], 110500 (3)	Slc4a1 (MGI:109393)
chr17	44308601	44318670	17q21.3	17q21.31	605448	RUNDC3A, RPIP8	RUN domain contain 3A	RUNDC3A	10900	ENSG00000108309			Rundc3a (MGI:1858752)
chr17	44319628	44324823	17q21.31	17q21.31	610820	SLC25A39, CGI69	Solute carrier family 25, member 39	SLC25A39	51629	ENSG00000013306			Slc25a39 (MGI:1196386)
chr17	44345302	44353106	17q21.32	17q21.31	138945	GRN, CLN11, FTD2	Granulin	GRN	2896	ENSG00000030582		Frontotemporal dementia 2, 607485 (3), Autosomal recessive, Autosomal dominant; Aphasia, primary progressive, 607485 (3), Autosomal recessive, Autosomal dominant; Ceroid lipofuscinosis, neuronal, 11, 614706 (3), Autosomal recessive	Grn (MGI:95832)
chr17	44372181	44389649	17q21.32	17q21.31	607759	ITGA2B, GP2B, CD41B, GT1, BDPLT2, BDPLT16	Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	ITGA2B	3674	ENSG00000005961	3' to GP3A; BAK platelet antigen	Thrombocytopenia, neonatal alloimmune, BAK antigen related (3); Glanzmann thrombasthenia 1, 273800 (3), Autosomal recessive; Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant	Itga2b (MGI:96601)
chr17	44395281	44503406	17q21.31	17q21.31	614396	GPATCH8, KIAA0553	G-patch domain-containing protein 8	GPATCH8	23131	ENSG00000186566			Gpatch8 (MGI:1918667)
chr17	44557484	44561262	17q21.1	17q21.31	600667	FZD2, OMOD2	Frizzled class receptor 2	FZD2	2535	ENSG00000180340		Omodysplasia 2, 164745 (3), Autosomal dominant	Fzd2 (MGI:1888513)
chr17	44656468	44677087	17q21.31	17q21.31	616934	MEIOC, C17orf104	Meiosis-specific protein with coiled-coil domain	MEIOC	284071	ENSG00000180336			Meioc (MGI:2686410)
chr17	44708665	44752264	17q21	17q21.31	611661	DBF4B, DRF1, ASKL1	DBF4, S. cerevisiae, homolog of, B	DBF4B	80174	ENSG00000161692			
chr17	44758988	44781846	17q21.3	17q21.31	155120	ADAM11, MDC	ADAM metallopeptidase domain 11	ADAM11	4185	ENSG00000073670			Adam11 (MGI:1098667)
chr17	44794104	44831364	17q21.31	17q21.31	608655	GJC1, GJA7, CX45	Gap junction protein, gamma-1	GJC1	10052	ENSG00000182963			Gjc1 (MGI:95718)
chr17	44844860	44850476	17q21.31	17q21.31	620420	HIGD1B	HIG1 hypoxia-inducible domain family, member 1B	HIGD1B	51751	ENSG00000131097			Higd1b (MGI:1922939)
chr17	44849948	44899445	17q21.31	17q21.31	603892	EFTUD2, KIAA0031, MFDGA	Elongation factor Tu GTP-binding domain-containing 2	EFTUD2	9343	ENSG00000108883		Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3), Autosomal dominant	Eftud2 (MGI:1336880)
chr17	44899729	44905390	17q21.31	17q21.31	614677	DNAAF19, CCDC103, SMH, PR46B, CILD17	Dynein, axonemal, assembly factor 19	DNAAF19	388389	ENSG00000167131		Ciliary dyskinesia, primary, 17, 614679 (3), Autosomal recessive	Ccdc103 (MGI:1920543)
chr17	44903159	44915500	17q21	17q21.31	137780	GFAP, ALXDRD	Glial fibrillary acidic protein	GFAP	2670	ENSG00000131095		Alexander disease, 203450 (3), Autosomal dominant	Gfap (MGI:95697)
chr17	44924711	44947773	17q21.31	17q21.31	614570	KIF18B	Kinesin family member 18B	KIF18B	146909	ENSG00000186185			Kif18b (MGI:2446979)
chr17	44959693	44968303	17q21	17q21.31	611586	C1QL1, CRF, C1QRF	Complement component 1, q subcomponent-like 1	C1QL1	10882	ENSG00000131094			C1ql1 (MGI:1344400)
chr17	45061317	45109016	17q21.31	17q21.31	160993	NMT1, NMT	N-myristoyltransferase 1	NMT1	4836	ENSG00000136448			Nmt1 (MGI:102579)
chr17	45108959	45132515	17q21.31	17q21.31	608795	PLCD3	Phospholipase C, delta-3	PLCD3	113026	ENSG00000161714			Plcd3 (MGI:107451)
chr17	45131597	45144176	17q21.31	17q21.31	619968	ACBD4	Acyl-CoA-binding domain-containing protein 4	ACBD4	79777	ENSG00000181513			Acbd4 (MGI:1914381)
chr17	45148475	45152099	Chr.17	17q21.31	607328	CLP1, HIS1	Cardiac lineage protein 1	HEXIM1	10614	ENSG00000186834			Hexim1 (MGI:2385923)
chr17	45160174	45170040	17q21.32	17q21.31	615695	HEXIM2	Hexamethylene bis acetamide-inducible protein 2	HEXIM2	124790	ENSG00000168517			Hexim2 (MGI:1918309)
chr17	45221885	45247318	17q21	17q21.31	604656	FMNL, C17orf1B	Formin-like	FMNL1	752	ENSG00000184922			Fmnl1 (MGI:1888994)
chr17	45263119	45317020	17q21	17q21.31	604655	MAP3K14, NIK, HSNIK, IMD112	Mitogen-activated protein kinase kinase kinase-14	MAP3K14	9020	ENSG00000006062		Immunodeficiency 112, 620449 (3), Autosomal recessive	Map3k14 (MGI:1858204)
chr17	45393908	45432870	17q21	17q21.31	610591	ARHGAP27, CAMGAP1	RHO GTPase-activating protein 27	ARHGAP27	201176	ENSG00000159314			Arhgap27 (MGI:1916903)
chr17	45434209	45490721	17q21.3	17q21.31	611466	PLEKHM1, AP162, KIAA0356, OPTB6, OPTA3	Pleckstrin homology domain-containing protein, family M, member 1	PLEKHM1	9842	ENSG00000225190	mutation identified in 1 OPTB6 family	?Osteopetrosis, autosomal recessive 6, 611497 (3), Autosomal recessive; Osteopetrosis, autosomal dominant 3, 618107 (3), Autosomal dominant	Plekhm1 (MGI:2443207)
chr17	45784320	45835828	17q12-q22	17q21.31	122561	CRHR1, CRHR	Corticotropin releasing hormone receptor 1	CRHR1	1394	ENSG00000120088			Crhr1 (MGI:88498)
chr17	45844881	45847067	17q21.31	17q21.31	608284	IMP5	Intramembrane protease 5	SPPL2C	162540	ENSG00000185294			Sppl2c (MGI:3045264)
chr17	45894554	46028334	17q21.1	17q21.31	157140	MAPT, MTBT1, DDPAC, MSTD, FTD1	Microtubule-associated protein tau	MAPT	4137	ENSG00000186868	see 6p21	Supranuclear palsy, progressive, 601104 (3), Autosomal dominant; Frontotemporal dementia 1, with or without parkinsonism, 600274 (3), Autosomal dominant; Supranuclear palsy, progressive atypical, 260540 (3), Autosomal recessive; {Parkinson disease, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant; Pick disease, 172700 (3), Autosomal dominant	Mapt (MGI:97180)
chr17	45999250	45999694	17q21.1	17q21.31	607067	STH	Saitohin	STH	246744	ENSG00000256762	in intron 9 of TAU		
chr17	46029916	46225367	17q21.31	17q21.31	612452	KANSL1, KIAA1267, MSL1V1, KDVS	KAT8 regulatory NSL complex subunit 1	KANSL1	284058	ENSG00000120071		Koolen-De Vries syndrome, 610443 (3), Autosomal dominant	Kansl1 (MGI:1923969)
chr17	46248044	46337794	17q21.31-q21.32	17q21.31	616555	LRRC37A	Leucine-rich repeat-containing protein 37A	LRRC37A	9884	ENSG00000176681			Lrrc37,Lrrc37a (MGI:2685097,MGI:2685730)
chr17	46372792	47049128	17q21.31-q21.32	17q21.31-q21.32	616556	LRRC37A2	Leucine-rich repeat-containing protein 37A2	LRRC37A2	474170	ENSG00000238083			Lrrc37,Lrrc37a (MGI:2685097,MGI:2685730)
chr17	46590669	46757464	17q21-q22	17q21.31	601633	NSF, DEE96	N-ethylmaleimide-sensitive factor	NSF	4905	ENSG00000073969		Developmental and epileptic encephalopathy 96, 619340 (3), Autosomal dominant	Nsf (MGI:104560)
chr17	46762506	46818692	17q21	17q21.31-q21.32	165330	WNT3, INT4, TETAMS	Wingless-type MMTV integration site family, member 3	WNT3	7473	ENSG00000108379	mutation identified in 1 TETAMS1 family	?Tetra-amelia syndrome 1, 273395 (3), Autosomal recessive	Wnt3 (MGI:98955)
chr17	46833189	46886738	17q21	17q21.32	602864	WNT15	Wingless-type MMTV integration site family, member 15	WNT9B	7484	ENSG00000158955			Wnt9b (MGI:1197020)
chr17	46923160	46975890	17q21	17q21.32	604027	GOSR2, GS27, EPM6, MYOS	Golgi snap receptor complex member 2	GOSR2	9570	ENSG00000108433		Epilepsy, progressive myoclonic 6, 614018 (3), Autosomal recessive; Muscular dystrophy, congenital, with or without seizures, 620166 (3), Autosomal recessive	Gosr2 (MGI:1927204)
chr17	47117703	47189295	17q12-q23.2	17q21.32	116946	CDC27	Cell division cycle 27	CDC27	996	ENSG00000004897	between ERBB2 and PRKCA		Cdc27 (MGI:102685)
chr17	47189433	47227650	17q21.32	17q21.32	160770	MYL4	Myosin, light polypeptide-4, alkali, atrial, embryonic	MYL4	4635	ENSG00000198336	mutation identified in 1 ATFB18 family	?Atrial fibrillation, familial, 18, 617280 (3), Autosomal dominant	Myl4 (MGI:97267)
chr17	47253827	47313743	17q21.32	17q21.32	173470	ITGB3, GP3A, GT2, BDPLT24	Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61)	ITGB3	3690	ENSG00000259207	in same 260kb fragment as GP2B; PL(A) platelet antigen	Bleeding disorder, platelet-type, 24, autosomal dominant, 619271 (3), Autosomal dominant; Thrombocytopenia, neonatal alloimmune (3); Purpura, posttransfusion (3); {Myocardial infarction, susceptibility to}, 608446 (3); Glanzmann thrombasthenia 2, 619267 (3), Autosomal recessive	Itgb3 (MGI:96612)
chr17	47522933	47623276	17q21	17q21.32	606793	NPEPPS, PSA, MP100	Aminopeptidase, puromycin-sensitive	NPEPPS	9520	ENSG00000141279			Npepps (MGI:1101358)
chr17	47649919	47685505	17q21	17q21.32	602738	KPNB1	Karyopherin beta-1	KPNB1	3837	ENSG00000108424			Kpnb1 (MGI:107532)
chr17	47694063	47712063	17q21.32	17q21.32	608476	TBKBP1, PROSAPIP2, KIAA0775	TBK1-binding protein 1	TBKBP1	9755	ENSG00000198933			Tbkbp1 (MGI:1920424)
chr17	47733236	47746122	17q21.3	17q21.32	604895	TBX21, TBET, IMD88	T-box 21	TBX21	30009	ENSG00000073861	mutation identified in 1 IMD88 patient	Asthma and nasal polyps, 208550 (3), Autosomal recessive; ?Immunodeficiency 88, 619630 (3), Autosomal recessive; {Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive	Tbx21 (MGI:1888984)
chr17	47807372	47821794	17q21.2	17q21.32	606735	OSBPL7, ORP7	Oxysterol-binding protein-like protein 7	OSBPL7	114881	ENSG00000006025			Osbpl7 (MGI:1918490)
chr17	47823272	47831541	17q21.3	17q21.32	611825	MRPL10, MRPL8	Mitochondrial ribosomal protein L10	MRPL10	124995	ENSG00000159111			Mrpl10 (MGI:1333801)
chr17	47831670	47837719	17q21.32	17q21.32	620927	LRRC46	Leucine-rich repeat-containing protein 46	LRRC46	90506	ENSG00000141294			Lrrc46 (MGI:1916547)
chr17	47837692	47841273	17q21.3	17q21.32	614966	SCRN2, SES2	Secernin 2	SCRN2	90507	ENSG00000141295			Scrn2 (MGI:1343092)
chr17	47844908	47876311	17q21.32	17q21.32	608613	SP6, KLF14, EPFN, AI1K	Transcription factor Sp6	SP6	80320	ENSG00000189120		Amelogenesis imperfecta, type IK, 620104 (3), Autosomal dominant	Sp6 (MGI:1932575)
chr17	47896236	47931731	17q21.32	17q21.32	601801	SP2	Transcription factor Sp2	SP2	6668	ENSG00000167182			Sp2 (MGI:1926162)
chr17	47941571	47949308	17q21.32	17q21.32	603287	PNPO	Pyridoxamine 5'-phosphate oxidase	PNPO	55163	ENSG00000108439		Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3), Autosomal recessive	Pnpo (MGI:2144151)
chr17	47967904	47981781	17q21.31	17q21.32	608202	CDK5RAP3	CDK5 regulatory subunit-associated protein 3	CDK5RAP3	80279	ENSG00000108465			Cdk5rap3 (MGI:1933126)
chr17	48026167	48048053	17q21.32	17q21.32	615526	COPZ2	Coatomer protein complex, subunit zeta-2	COPZ2	51226	ENSG00000005243			Copz2 (MGI:1929008)
chr17	48037161	48037247	17q21.32	17q21.32	613788	MIR152, MIRN152	Micro RNA 152	MIR152	406943	ENSG00000207947			Mir152 (MGI:2676837)
chr17	48048359	48061545	17q21.3	17q21.32	163260	NFE2L1, NRF1	Nuclear factor, erythroid-derived 2-like 1	NFE2L1	4779	ENSG00000082641			Nfe2l1 (MGI:99421)
chr17	48070059	48101478	17q21.32	17q21.32	604511	CBX1	Chromobox 1	CBX1	10951	ENSG00000108468			Cbx1 (MGI:105369)
chr17	48107523	48123601	17q21.32	17q21.32	614906	SNX11	Sorting nexin 11	SNX11	29916	ENSG00000002919			Snx11 (MGI:1921729)
chr17	48133442	48445061	17q21.32	17q21.32	604969	SKAP1, SCAP1, SKAP55	SRC kinase-associated phosphoprotein 1, 55kD	SKAP1	8631	ENSG00000141293			Skap1 (MGI:1925723)
chr17	48528526	48531011	17q21-q22	17q21.32	142968	HOXB1, HOX2I, HCFP3	Homeobox-B1	HOXB1	3211	ENSG00000120094		Facial paresis, hereditary congenital, 3, 614744 (3), Autosomal recessive	Hoxb1 (MGI:96182)
chr17	48542655	48545109	17q21-q22	17q21.32	142967	HOXB2, HOX2H	Homeobox B2	HOXB2	3212	ENSG00000173917			Hoxb2 (MGI:96183)
chr17	48544351	48551241	17q21.32	17q21.32	618066	HOXBAS1, HOXB3OS	Homeobox B cluster antisense RNA 1, noncoding	HOXB-AS1	100874362	ENSG00000230148			
chr17	48548870	48590241	17q21-q22	17q21.32	142966	HOXB3, HOX2G	Homeobox B3	HOXB3	3213	ENSG00000120093			Hoxb3 (MGI:96184)
chr17	48575507	48578350	17q21-q22	17q21.32	142965	HOXB4, HOX2F	Homeobox B4	HOXB4	3214	ENSG00000182742			Hoxb4 (MGI:96185)
chr17	48579838	48579947	17q21	17q21.32	610173	MIR10A	Micro RNA 10A	MIR10A	406902	ENSG00000284038			Mir10a (MGI:3619064)
chr17	48591257	48593779	17q21-q22	17q21.32	142960	HOXB5, HOX2A	Homeobox B5	HOXB5	3215	ENSG00000120075			Hoxb5 (MGI:96186)
chr17	48595751	48604986	17q21-q22	17q21.32	142961	HOXB6, HOX2B	Homeobox B6	HOXB6	3216	ENSG00000108511			Hoxb6 (MGI:96187)
chr17	48607232	48611017	17q21-q22	17q21.32	142962	HOXB7, HOX2C	Homeobox B7	HOXB7	3217	ENSG00000260027			Hoxb7 (MGI:96188)
chr17	48612346	48615292	17q21-q22	17q21.32	142963	HOXB8, HOX2D	Homeobox B8	HOXB8	3218	ENSG00000120068			Hoxb8 (MGI:96189)
chr17	48621156	48626358	17q21-q22	17q21.32	142964	HOXB9, HOX2E	Homeobox B9	HOXB9	3219	ENSG00000170689			Hoxb9 (MGI:96190)
chr17	48632490	48632559	17q21-q22	17q21.32	608632	MIR196A1, MIRN196A1	Micro RNA 196A1	MIR196A1	406972	ENSG00000210741			Mir196a-1 (MGI:2676860)
chr17	48718666	48724758	17q21.3	17q21.32	610787	PRAC2, HOXBAS5	PRAC2 small nuclear protein	PRAC2	360205	ENSG00000229637			
chr17	48721719	48722518	17q21.3	17q21.32	609819	PRAC1	PRAC1 small nuclear protein	PRAC1	84366	ENSG00000159182			
chr17	48724763	48728750	17q21.2	17q21.32	604607	HOXB13, HPC9	Homeobox B13	HOXB13	10481	ENSG00000159184		{Prostate cancer, hereditary, 9}, 610997 (3)	Hoxb13 (MGI:107730)
chr17	48762234	48817229	17q21.32	17q21.32	610849	TTLL6	Tubulin tyrosine ligase-like 6	TTLL6	284076	ENSG00000170703			Ttll6 (MGI:2683461)
chr17	48831035	48865245	17q21.32	17q21.32	604587	CALCOCO2, NDP52	Calcium binding and coiled-coil domain protein 2	CALCOCO2	10241	ENSG00000136436			Calcoco2 (MGI:1343177)
chr17	48892787	48895871	Chr.17	17q21.32	603192	ATP5G1	ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C, isoform 1	ATP5MC1	516	ENSG00000159199			Atp5mc1 (MGI:107653)
chr17	48908407	48929056	17q21.32	17q21.32	611362	UBE2Z, USE1	Ubiquitin-conjugating enzyme E2 Z	UBE2Z	65264	ENSG00000159202			Ube2z (MGI:1343160)
chr17	48929316	48944842	17q21.32	17q21.32	610904	SNF8, VPS22, EAP30, DEE115, NEDOA	SNF8 subunit of ESCRIT-II	SNF8	11267	ENSG00000159210		Developmental and epileptic encephalopathy 115, 620783 (3), Autosomal recessive; Neurodevelopmental disorder plus optic atrophy, 620784 (3), Autosomal recessive	Snf8 (MGI:1343161)
chr17	48958554	48968596	17q21.3-q22	17q21.32	137240	GIP	Gastric inhibitory polypeptide	GIP	2695	ENSG00000159224			Gip (MGI:107504)
chr17	48996558	49056145	17q21.3	17q21.32	608288	IGF2BP1, IMP1, CRDBP, ZBP1	Insulin-like growth factor 2 mRNA-binding protein 1	IGF2BP1	10642	ENSG00000159217			Igf2bp1 (MGI:1890357)
chr17	49120344	49176840	17q21.2	17q21.32	111730	B4GALNT2, GALGT2, SD, SDA	Beta-1,4-N-acetyl-galactosaminyl transferase 2	B4GALNT2	124872	ENSG00000167080		[Blood group, Sid system], 615018 (3); Sd(a) polyagglutination syndrome, 615018 (3)	B4galnt2 (MGI:1342058)
chr17	49192528	49192599	17q21.32	17q21.32	189923	TRQ-TTG1-1, TRNAQ2, TRQ2	tRNA glutamine (anticodon TTG) 1-1	TRQ-TTG1-1	7229				
chr17	49206234	49210574	17q21	17q21.32	139391	GNGT2	Guanine nucleotide-binding protein, gamma-transducing activity polypeptide 2	GNGT2	2793	ENSG00000167083			Gngt2 (MGI:893584)
chr17	49210707	49223225	17q21.3	17q21.32	606363	NESH	NESH protein	ABI3	51225	ENSG00000108798			Abi3 (MGI:1913860)
chr17	49288117	49362473	17q21.32	17q21.32-q21.33	613907	ZNF652, KIAA0924	Zinc finger protein 652	ZNF652	22834	ENSG00000198740			Zfp652 (MGI:2442221)
chr17	49404052	49414882	17q21	17q21.33	176705	PHB1	Prohibitin 1	PHB1	5245	ENSG00000167085		{Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant	Phb1 (MGI:97572)
chr17	49495293	49515008	17q21-q22	17q21.33	162010	NGFR, TNFRSF16	Nerve growth factor receptor	NGFR	4804	ENSG00000064300	distal to APL breakpoint, q21; < 0.5mb from HOX2		Ngfr (MGI:97323)
chr17	49575871	49583827	17q21.33	17q21.33	604636	NXPH3, NPH3	Neuroexophilin 3	NXPH3	11248	ENSG00000182575			Nxph3 (MGI:1336188)
chr17	49598884	49678163	17q21.33	17q21.33	602650	SPOP, NSDVS1, NSDVS2	Speckle-type POZ protein	SPOP	8405	ENSG00000121067		Nabais Sa-de Vries syndrome, type 1, 618828 (3), Autosomal dominant; Nabais Sa-de Vries syndrome, type 2, 618829 (3), Autosomal dominant	Spop (MGI:1343085)
chr17	49700943	49708197	17q21.33	17q21.33	610790	SLC35B1, UGTREL1	Solute carrier family 35, member B1	SLC35B1	10237	ENSG00000121073			Slc35b1 (MGI:1343133)
chr17	49788681	49835026	17q21.32	17q21.33	609880	KAT7, MYST2, HBO1	K(lysine) acetyltransferase 7	KAT7	11143	ENSG00000136504			Kat7 (MGI:2182799)
chr17	49838300	49848069	17q21.3	17q21.33	607833	RAC4, PPTC, HK1	Tachykinin 4	TAC4	255061	ENSG00000176358			Tac4 (MGI:1931130)
chr17	49968572	49974959	17q21.3-q22	17q21.33	601911	DLX4, DLX7, DLX8, OFC15	Distal-less homeobox 4	DLX4	1748	ENSG00000108813	mutation identified in 1 OFC15 family	?Orofacial cleft 15, 616788 (3), Autosomal dominant	Dlx4 (MGI:94904)
chr17	49990005	49995224	17q21.3-q22	17q21.33	600525	DLX3, TDO, AI4	Distal-less homeobox 3	DLX3	1747	ENSG00000064195		Trichodontoosseous syndrome, 190320 (3), Autosomal dominant; Amelogenesis imperfecta, type IV, 104510 (3), Autosomal dominant	Dlx3 (MGI:94903)
chr17	50056110	50090481	17q21.33	17q21.33	605025	ITGA3, CD49C, GAPB3, JEB7	Integrin, alpha-3	ITGA3	3675	ENSG00000005884		Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, 614748 (3), Autosomal recessive	Itga3 (MGI:96602)
chr17	50094737	50112152	17q21.33	17q21.33	602525	PDK2	Pyruvate dehydrogenase kinase, isoenzyme 2	PDK2	5164	ENSG00000005882			Pdk2 (MGI:1343087)
chr17	50110040	50130160	17q21.33	17q21.33	619233	SAMD14	Sterile alpha motif domain-containing protein 14	SAMD14	201191	ENSG00000167100			Samd14 (MGI:2384945)
chr17	50133737	50150677	17q21.33	17q21.33	603325	PPP1R9B, SPINO	Protein phosphatase 1, regulatory subunit 9B	PPP1R9B	84687	ENSG00000108819			Ppp1r9b (MGI:2387581)
chr17	50166005	50175928	17q12-q21.33	17q21.33	600119	SGCA, ADL, DAG2, LGMDR3	Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)	SGCA	6442	ENSG00000108823		Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3), Autosomal recessive	Sgca (MGI:894698)
chr17	50171428	50172476	17q21.33	17q21.33	608101	HILS1	Spermatid-specific linker histone H1-like protein	H1-9P	373861	ENSG00000253730			
chr17	50184101	50201631	17q21.31-q22	17q21.33	120150	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	Collagen I, alpha-1 polypeptide	COL1A1	1277	ENSG00000108821	fused with PDGFB in DFPB	Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Caffey disease, 114000 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3), Autosomal dominant; Osteogenesis imperfecta, type I, 166200 (3), Autosomal dominant; {Bone mineral density variation QTL, osteoporosis}, 166710 (3), Autosomal dominant; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, 619115 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant	Col1a1 (MGI:88467)
chr17	50271406	50281485	17q21.33	17q21.33	619604	TMEM92	Transmembrane protein 92	TMEM92	162461	ENSG00000167105			Tmem92 (MGI:3034723)
chr17	50346126	50361185	17q21.3-q22	17q21.33	608125	XYLT2, XT2, SOS	Xylosyltransferase 2	XYLT2	64132	ENSG00000015532		{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Spondyloocular syndrome, 605822 (3), Autosomal recessive	Xylt2 (MGI:2444797)
chr17	50367867	50373184	17q21.3-q22	17q21.33	611837	MRPL27	Mitochondrial ribosomal protein L27	MRPL27	51264	ENSG00000108826			Mrpl27 (MGI:2137224)
chr17	50373229	50381483	17q21.3	17q21.33	610885	EME1	Essential meiotic structure-specific endonuclease 1	EME1	146956	ENSG00000154920			Eme1 (MGI:3576783)
chr17	50381238	50397523	17q21.33	17q21.33	614854	LRRC59, p34	Leucine-rich repeat-containing protein 59	LRRC59	55379	ENSG00000108829			Lrrc59 (MGI:2138133)
chr17	50426218	50474845	17q21.33	17q21.33	610465	ACSF2, FLJ20920	Acyl-CoA synthetase family member 2	ACSF2	80221	ENSG00000167107			Acsf2 (MGI:2388287)
chr17	50464496	50468880	17q21.33	17q21.33	602178	CHAD	Chondroadherin	CHAD	1101	ENSG00000136457			Chad (MGI:1096866)
chr17	50478860	50485974	17q21.33	17q21.33	620590	RSAD1	Radical S-adenosyl methionine domain-containing protein 1	RSAD1	55316	ENSG00000136444			Rsad1 (MGI:3039628)
chr17	50507778	50531501	17q21	17q21.33	609835	MYCBPAP, AMAP1	MYCBP-associated protein	MYCBPAP	84073	ENSG00000136449			Mycbpap (MGI:2388726)
chr17	50532735	50543750	Chr.17	17q21.33	607264	EPN3	Epsin 3	EPN3	55040	ENSG00000049283			Epn3 (MGI:1919139)
chr17	50547174	50555852	17q21.33	17q21.33	613939	SPATA20, SSP411	Spermatogenesis-associated protein 20	SPATA20	64847	ENSG00000006282			Spata20 (MGI:2183449)
chr17	50560715	50627474	17q22	17q21.33	604065	CACNA1G, SCA42, SCA42ND	Calcium channel, voltage-dependent, T type, alpha-1G subunit	CACNA1G	8913	ENSG00000006283		Spinocerebellar ataxia 42, 616795 (3), Autosomal dominant; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3), Autosomal dominant	Cacna1g (MGI:1201678)
chr17	50634881	50692253	17q22	17q21.33	604323	ABCC3, CMOAT2, MRP3, MLP2	ATP-binding cassette, sub-family C, member 3	ABCC3	8714	ENSG00000108846			Abcc3 (MGI:1923658)
chr17	50719603	50756219	17q21.3	17q21.33	609434	LUC7L3, CROP, LUC7A	LUC7-like 3 pre-mRNA splicing factor	LUC7L3	51747	ENSG00000108848			Luc7l3 (MGI:1914934)
chr17	50834584	50842353	17q21.3	17q21.33	610895	WFIKKN2, WFIKKNRP	WAP, fillistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 2	WFIKKN2	124857	ENSG00000173714			Wfikkn2 (MGI:2669209)
chr17	50862223	50867978	17q21	17q21.33	605523	TOB1, TOB	Transducer of ERBB2, 1	TOB1	10140	ENSG00000141232			Tob1 (MGI:1349721)
chr17	50962174	51120868	17q21.33	17q21.33	605430	SPAG9, SYD1, KIAA0516	Sperm-associated antigen 9	SPAG9	9043	ENSG00000008294			Spag9 (MGI:1918084)
chr17	51153559	51162168	17q21.3	17q21.33	156490	NME1, NM23	NME/NM23 nucleoside diphosphate kinase 1	NME1	4830	ENSG00000239672			Nme1 (MGI:97355)
chr17	51165536	51171744	17q21.3	17q21.33	156491	NME2	NME/NM23 nucleoside diphosphate kinase 2	NME2	4831	ENSG00000243678			Nme2 (MGI:97356)
chr17	51177425	51260958	17q21.33	17q21.33	618705	MBTD1	MBT domain-containing protein 1	MBTD1	54799	ENSG00000011258			Mbtd1 (MGI:2143977)
chr17	51260546	51297933	17q21.33	17q21.33	612816	UTP18	UTP18 small subunit processome component	UTP18	51096	ENSG00000011260			Utp18 (MGI:1923402)
chr17	51630313	52160023	17q21.33-q22	17q21.33-q22	604642	CA10, CARPX	Carbonic anhydrase X	CA10	56934	ENSG00000154975			Car10 (MGI:1919855)
chr17	52100001	59500000	17q22		151441	BCL5	B-cell CLL/lymphoma-5		603				
chr17	53822927	53825193	17q22	17q22	615142	KIF2B	Kinesin family member 2B	KIF2B	84643	ENSG00000141200			Kif2b (MGI:1920720)
chr17	54900852	54961956	17q22	17q22	604701	TOM1L1	Target of MYB1-like 1 membrane trafficking protein	TOM1L1	10040	ENSG00000141198			Tom1l1 (MGI:1919193)
chr17	54951902	54968785	17q22	17q22	603648	COX11, MC4DN23	Cytochrome c oxidase, subunit 11	COX11	1353	ENSG00000166260	pseudogene on 6p23-p22	Mitochondrial complex IV deficiency, nuclear type 23, 620275 (3), Autosomal recessive	Cox11 (MGI:1917052)
chr17	54968765	55213273	17q22	17q22	610415	STXBP4, SYNIP	Syntaxin-binding protein 4	STXBP4	252983	ENSG00000166263			Stxbp4 (MGI:1342296)
chr17	55264960	55325187	17q22	17q22	142385	HLF	Hepatic leukemia factor	HLF	3131	ENSG00000108924			Hlf (MGI:96108)
chr17	55392622	55421835	17q22	17q22	604467	MMD, MMD1, PAQR11	Monocyte-to-macrophage differentiation-associated protein	MMD	23531	ENSG00000108960			Mmd (MGI:1914718)
chr17	55719627	55732081	17q22	17q22	616334	TMEM100	Transmembrane protein 100	TMEM100	55273	ENSG00000166292			Tmem100 (MGI:1915138)
chr17	55751051	55852715	17q21-q22	17q22	606055	PCTP	Phosphatidylcholine transfer protein	PCTP	58488	ENSG00000141179			Pctp (MGI:107375)
chr17	56046077	56517016	17q22	17q22	620853	ANKFN1, WAKE	Ankyrin repeat- and fibronectin type III domain-containing protein 1	ANKFN1	162282	ENSG00000153930			Ankfn1 (MGI:2686021)
chr17	56593699	56595611	17q22	17q22	602991	NOG, SYM1, SYNS1A	Noggin	NOG	9241	ENSG00000183691		Symphalangism, proximal, 1A, 185800 (3), Autosomal dominant; Brachydactyly, type B2, 611377 (3), Autosomal dominant; Stapes ankylosis with broad thumbs and toes, 184460 (3), Autosomal dominant; Tarsal-carpal coalition syndrome, 186570 (3), Autosomal dominant; Multiple synostoses syndrome 1, 186500 (3), Autosomal dominant	Nog (MGI:104327)
chr17	56834151	56869567	17q22	17q22	601440	DGKE, NPHS7, AHUS7	Diacylglycerol kinase, epsilon, 64-kD	DGKE	8526	ENSG00000153933		{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3), Autosomal recessive; Nephrotic syndrome, type 7, 615008 (3), Autosomal recessive	Dgke (MGI:1889276)
chr17	56887909	56914049	17q23.1	17q22	600453	TRIM25, ZNF147, EFP	Tripartite motif-containing 25	TRIM25	7706	ENSG00000121060	300kb from MPO		Trim25 (MGI:102749)
chr17	56938199	56961050	17q22-q23	17q22	600272	COIL, CLN80	Coilin p80	COIL	8161	ENSG00000121058			Coil (MGI:104842)
chr17	56978131	57006768	17q22	17q22	619723	SCPEP1, RISC	Serine carboxypeptidase 1	SCPEP1	59342	ENSG00000121064			Scpep1 (MGI:1921867)
chr17	57085246	57121344	Chr.17	17q22	602449	AKAP1, AKAP149, SAKAP84	A-kinase anchor protein 1, 149kD	AKAP1	8165	ENSG00000121057			Akap1 (MGI:104729)
chr17	57255851	57701581	17q22	17q22	607897	MSI2	Musashi RNA binding protein 2	MSI2	124540	ENSG00000153944			Msi2 (MGI:1923876)
chr17	57834781	57850044	17q22-q23	17q22	611985	MRPS23, COXPD46	Mitochondrial ribosomal protein S23	MRPS23	51649	ENSG00000181610	mutation identified in 1 COXPD46 patient	?Combined oxidative phosphorylation deficiency 46, 618952 (3), Autosomal recessive	Mrps23 (MGI:1928138)
chr17	57861243	57955412	17q22	17q22	620552	CUEDC1	CUE domain-containing protein 1	CUEDC1	404093	ENSG00000180891			Cuedc1 (MGI:2144281)
chr17	57971552	57988254	17q22	17q22	606747	VEZF1, ZNF161, CMD1OO	Vascular endothelial zinc finger 1	VEZF1	7716	ENSG00000136451	mutation identified in 1 CMD1OO family	?Cardiomyopathy, dilated, 1OO, 620247 (3), Autosomal dominant	Vezf1 (MGI:1313291)
chr17	57989038	58007246	17q21.3-q22	17q22	600812	SRSF1, SFRS1, ASF, SF2, SRp30a, NEDFBA	Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor)	SRSF1	6426	ENSG00000136450		Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, 620489 (3), Autosomal dominant	Srsf1 (MGI:98283)
chr17	58083419	58095542	17q23.2	17q22	608942	DYNLL2, DLC2	Dynein, light chain, LC8-type 2	DYNLL2	140735	ENSG00000264364			Dynll2 (MGI:1915347)
chr17	58192726	58205174	17q23.1	17q22	131399	EPX, EPXD	Eosinophil peroxidase	EPX	8288	ENSG00000121053		[Eosinophil peroxidase deficiency], 261500 (3), Autosomal recessive	Epx (MGI:107569)
chr17	58205441	58219255	17q23	17q22	609883	MKS1, MKS, BBS13, JBTS28	MKS1 transition zone complex subunit 1	MKS1	54903	ENSG00000011143	frequent in Finland	Bardet-Biedl syndrome 13, 615990 (3), Autosomal recessive; Meckel syndrome 1, 249000 (3), Autosomal recessive; Joubert syndrome 28, 617121 (3), Autosomal recessive	Mks1 (MGI:3584243)
chr17	58238584	58268518	17q23.1	17q22	150205	LPO	Lactoperoxidase	LPO	4025	ENSG00000167419			Lpo (MGI:1923363)
chr17	58269855	58280935	17q23.1	17q22	606989	MPO	Myeloperoxidase	MPO	4353	ENSG00000005381	translocated in t(15;17)(q22;q11.2)	{Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; Myeloperoxidase deficiency, 254600 (3), Autosomal recessive; {Lung cancer, protection against, in smokers} (3)	Mpo (MGI:97137)
chr17	58301231	58328795	17q23.2	17q22	610764	TSPOAP1, RIMBP1, KIAA0612, BZRAP1, PRAX1, DYT22	TSPO associated protein 1	TSPOAP1	9256	ENSG00000005379	mutation identified in 1 DYT22AO	Dystonia 22, juvenile-onset, 620453 (3), Autosomal recessive; ?Dystonia 22, adult-onset, 620456 (3), Autosomal recessive	Tspoap1 (MGI:2450877)
chr17	58331232	58331318	17q22	17q22	615657	MIR142	Micro RNA 142	MIR142	406934	ENSG00000284353			Mir142 (MGI:2676827)
chr17	58345178	58352201	17q22	17q22	603555	SUPT4H1	SPT4 homolog, DSIF elongation factor subunit	SUPT4H1	6827	ENSG00000213246			Supt4a,Supt4b (MGI:107416,MGI:1335090)
chr17	58352500	58417534	17q23.2	17q22	612482	RNF43, RNF124, SSPCS	RING finger protein 43	RNF43	54894	ENSG00000108375		Sessile serrated polyposis cancer syndrome, 617108 (3), Autosomal dominant	Rnf43 (MGI:2442609)
chr17	58420167	58488408	17q22	17q22	620843	HSF5	Heat-shock transcription factor 5	HSF5	124535	ENSG00000176160			Hsf5 (MGI:2685585)
chr17	58489537	58519047	Chr.17	17q22	603559	MTMR4	Myotubularin-related protein 4	MTMR4	9110	ENSG00000108389			Mtmr4 (MGI:2180699)
chr17	58520256	58544328	17q23	17q22	603696	SEPT4, PNUTL2	Septin 4	SEPTIN4	5414	ENSG00000108387			Septin4 (MGI:1270156)
chr17	58556678	58692045	17q22	17q22	605792	TEX14, SPGF23	Testis-expressed gene 14	TEX14	56155	ENSG00000121101		Spermatogenic failure 23, 617707 (3), Autosomal recessive	Tex14 (MGI:1933227)
chr17	58692573	58735611	17q22	17q22	602774	RAD51C, FANCO, BROVCA3	RAD52 paralog C	RAD51C	5889	ENSG00000108384		{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3); Fanconi anemia, complementation group O, 613390 (3), Autosomal recessive	Rad51c (MGI:2150020)
chr17	58755854	58985179	17q22	17q22	619308	PPM1E, CAMKPN	Protein phosphatase, magnesium/manganese-dependent, 1E	PPM1E	22843	ENSG00000175175			Ppm1e (MGI:2444096)
chr17	58967201	59106880	17q22-q23	17q22	605073	TRIM37, MUL, KIAA0898	Tripartite motif-containing 37	TRIM37	4591	ENSG00000108395		Mulibrey nanism, 253250 (3), Autosomal recessive	Trim37 (MGI:2153072)
chr17	59109857	59155186	17q22	17q22	616674	SKA2, FAM33A	Spindle- and kinetochore-associated complex, subunit 2	SKA2	348235	ENSG00000182628			Ska2 (MGI:1913390)
chr17	59151136	59151221	17q22	17q22	615675	MIR301A, MIR301	Micro RNA 301A	MIR301A	407027	ENSG00000207996			Mir301 (MGI:3619324)
chr17	59155746	59206709	17q22	17q22	615920	PRR11	Proline-rich protein 11	PRR11	55771	ENSG00000068489			Prr11 (MGI:2444496)
chr17	59210035	59215230	17q22	17q22	613175	SMG8, C17orf71, ALKUS	SMG8 nonsense-mediated mRNA decay factor	SMG8	55181	ENSG00000167447		Alzahrani-Kuwahara syndrome, 619268 (3), Autosomal recessive	Smg8 (MGI:1921383)
chr17	59220511	59275970	17q23.2	17q22	616317	GDPD1, GDE4	Glycerophosphodiester phosphodiesterase domain-containing protein 1	GDPD1	284161	ENSG00000153982			Gdpd1 (MGI:1913819)
chr17	59331655	59401729	17q23.2	17q22	609723	YPEL2	Yippee-like 2	YPEL2	388403	ENSG00000175155			Ypel2 (MGI:1925114)
chr17	59500001	64600000	17q23		609656	BSZQTL	Bone size quantitative trait locus 1		100188793			{Bone size QTL}, 609656 (2)	
chr17	59500001	63100000	17q23.1-q23.2		613355	DEL17q23.1q23.2, C17DELq23.1q23.2	Chromosome 17q23.1-q23.2 deletion syndrome					Chromosome 17q23.1-q23.2 deletion syndrome, 613355 (4), Isolated cases	
chr17	59500001	63100000	17q23.1-q23.2		613618	DUP17q23.1q23.2, C17DUPq23.1q23.2	Chromosome 17q23.1-q23.2 duplication syndrome				2.2 Mb contiguous gene duplication syndrome	Chromosome 17q23.1-q23.2 duplication syndrome, 613618 (4), Autosomal dominant	
chr17	59500001	83257441	17q23-qter		170200	PEPE	Peptidase E	PEPE	5185				
chr17	59565610	59608345	17q23.3	17q23.1	607570	DHX40, DDX40	DEAH-box helicase 40	DHX40	79665	ENSG00000108406			Dhx40 (MGI:1914737)
chr17	59619895	59696956	17q23	17q23.1	118955	CLTC, MRD56	Clathrin, heavy polypeptide (Hc)	CLTC	1213	ENSG00000141367	fusion gene with TFE3 in renal adenocarcinoma	Intellectual developmental disorder, autosomal dominant 56, 617854 (3), Autosomal dominant	Cltc (MGI:2388633)
chr17	59697308	59707430	17q23.1	17q23.1	608625	PTRH2, BIT1, IMNEPD	Peptidyl-tRNA hydrolase 2	PTRH2	51651	ENSG00000141378		Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3), Autosomal recessive	Ptrh2 (MGI:2444848)
chr17	59707654	59842255	17q23.1	17q23.1	611753	VMP1, TMEM49, EPG3	Vacuole membrane protein 1	VMP1	81671	ENSG00000062716			Vmp1 (MGI:1923159)
chr17	59841266	59841337	17q23.1	17q23.1	611020	MIR21, MIRN21	Micro RNA 21	MIR21	406991	ENSG00000284190			
chr17	59859479	59892943	Chr.17	17q23.1	607344	TUBD1, TUBD	Tubulin, delta-1	TUBD1	51174	ENSG00000108423			Tubd1 (MGI:1891826)
chr17	59893121	59950574	17q23.1	17q23.1	608938	RPS6KB1, S6K1	Ribosomal protein S6 kinase B1	RPS6KB1	6198	ENSG00000108443			Rps6kb1 (MGI:1270849)
chr17	59952240	59964740	17q23.1	17q23.1	615172	RNFT1	RING finger protein, transmembrane 1	RNFT1	51136	ENSG00000189050			Rnft1 (MGI:1924142)
chr17	60083566	60088467	17q23	17q23.1	615772	WFDC21P, LNCDC, LOC615638	WAP four-disulfide core domain 21, pseudogene	WFDC21P	645638	ENSG00000293515			
chr17	60149973	60179021	17q23	17q23.1	114760	CA4	Carbonic anhydrase IV	CA4	762	ENSG00000167434			Car4 (MGI:1096574)
chr17	60177327	60422416	17q22	17q23.1-q23.2	607740	USP32, USP10	Ubiquitin-specific protease 32	USP32	84669	ENSG00000170832			Usp32 (MGI:2144475)
chr17	60200001	76800000	17q23.2-q25.1		612967	BMIQ15	Body mass index quantitative trait locus 15		100302719		associated with rs228883 and rs1005651	[Body mass index QTL 15], 612967 (2)	
chr17	60200001	63100000	17q23.2		600852	RP17	Retinitis pigmentosa 17					Retinitis pigmentosa 17, 600852 (4), Autosomal dominant	
chr17	60443158	60526242	17q22-q23	17q23.2	605324	APPBP2, PAT1	Amyloid beta precursor protein-binding protein 2	APPBP2	10513	ENSG00000062725			Appbp2 (MGI:1914134)
chr17	60600193	60666280	17q22-q23	17q23.2	605100	PPM1D, WIP1, JDVS	Protein phosphatase, magnesium-dependent, 1, delta isoform	PPM1D	8493	ENSG00000170836	amplified in breast cancer	Breast cancer, somatic, 114480 (3); Jansen-de Vries syndrome, 617450 (3), Autosomal dominant	Ppm1d (MGI:1858214)
chr17	60677851	61392831	17q23.2	17q23.2	607470	BCAS3, HEMARS	BCAS3 microtubule associated cell migration factor	BCAS3	54828	ENSG00000141376		Hengel-Maroofian-Schols syndrome, 619641 (3), Autosomal recessive	Bcas3 (MGI:2385848)
chr17	61399843	61409466	17q23	17q23.2	600747	TBX2, VETD	T-box 2	TBX2	6909	ENSG00000121068		Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3), Autosomal dominant	Tbx2 (MGI:98494)
chr17	61452422	61485110	17q21-q22	17q23.2	601719	TBX4, ICPPS, PAPPAS	T-box 4	TBX4	9496	ENSG00000121075		Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 (3), Autosomal dominant; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, 601360 (3), Autosomal recessive	Tbx4 (MGI:102556)
chr17	61590421	61591219	17q23.2	17q23.2	609274	NACA2	Nascent polypeptide-associated complex, alpha polypeptide, 2	NACA2	342538	ENSG00000253506			
chr17	61679139	61863528	17q22	17q23.2	605882	BRIP1, BACH1, FANCJ	BRCA1-associated C-terminal helicase 1	BRIP1	83990	ENSG00000136492	?or 17q23	Fanconi anemia, complementation group J, 609054 (3); {Breast cancer, early-onset, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant	Brip1 (MGI:2442836)
chr17	61865367	61927982	17q23.2	17q23.2	611346	INTS2, INT2, KIAA1287	Integrator complex subunit 2	INTS2	57508	ENSG00000108506			Ints2 (MGI:1917672)
chr17	61942605	62065278	17q22-q23	17q23.2	603808	MED13, THRAP1, TRAP240, MRD61	Mediator complex subunit 13	MED13	9969	ENSG00000108510		Intellectual developmental disorder, autosomal dominant 61, 618009 (3), Autosomal dominant	Med13 (MGI:3029632)
chr17	62370218	62416480	17q23.2	17q23.2	619567	EFCAB3	EF-hand calcium-binding domain-containing protein 3	EFCAB3	146779	ENSG00000172421			Efcab3 (MGI:1918144)
chr17	62423897	62453385	17q23.2	17q23.2	618902	METTL2A, METTL2	Methyltransferase 2A, methylcytidine	METTL2A	339175	ENSG00000087995			Mettl2 (MGI:1289171)
chr17	62470914	62615481	17q23.2	17q23.2	608439	TLK2, MRD57	Tousled-like kinase 2	TLK2	11011	ENSG00000146872		Intellectual developmental disorder, autosomal dominant 57, 618050 (3), Autosomal dominant	Tlk2 (MGI:1346023)
chr17	62627670	62693597	17q23.2	17q23.2	612264	MRC2, ENDO180, UPARAP, CD280	Mannose receptor, C-type, 2	MRC2	9902	ENSG00000011028			Mrc2 (MGI:107818)
chr17	62701314	62808314	17q23.2	17q23.2	613337	MARCH10	Membrane-associated RING-CH finger protein 10	MARCHF10	162333	ENSG00000173838			Marchf10 (MGI:2443469)
chr17	62966235	63427703	17q23.3	17q23.2-q23.3	615047	TANC2, KIAA1636, IDDALDS	Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing protein 2	TANC2	26115	ENSG00000170921		Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 (3), Autosomal dominant	Tanc2 (MGI:2444121)
chr17	63432304	63446639	17q11-qter	17q23.3	600019	CYB561, ORTHYP2	Cytochrome b-561	CYB561	1534	ENSG00000008283		Orthostatic hypotension 2, 618182 (3), Autosomal recessive	Cyb561 (MGI:103253)
chr17	63477061	63498373	17q23	17q23.3	106180	ACE, DCP1, ACE1, MVCD3, ICH	Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1)	ACE	1636	ENSG00000159640		{Stroke, hemorrhagic}, 614519 (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Myocardial infarction, susceptibility to} (3); {Microvascular complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3); {SARS, progression of} (3)	Ace (MGI:87874)
chr17	63523358	63548992	17q23.3	17q23.3	608168	KCNH6, HERG2	Potassium channel, voltage-gated, subfamily H, member 6	KCNH6	81033	ENSG00000173826			Kcnh6 (MGI:2684139)
chr17	63550477	63594266	17q23.3	17q23.3	605973	DCAF7, AN11	DDB1- and CUL4-associated factor 7	DCAF7	10238	ENSG00000136485			Dcaf7 (MGI:1919083)
chr17	63600895	63608365	17q22-q24.2	17q23.3	612958	TACO1, CCDC44, MC4DN8	Translational activator of mitochondrially encoded cytochrome c oxidase subunit I	TACO1	51204	ENSG00000136463		Mitochondrial complex IV deficiency, nuclear type 8, 619052 (3), Autosomal recessive	Taco1 (MGI:1917457)
chr17	63622417	63696305	17q23.3	17q23.3	602539	MAP3K3, MEKK3, MAPKKK3, CCM5	Mitogen-activated kinase kinase kinase 3	MAP3K3	4215	ENSG00000198909		Cerebral cavernous malformations 5, 621032 (3), Somatic mutation	Map3k3 (MGI:1346874)
chr17	63702832	63741986	17q23.3	17q23.3	608626	STRADA, STRAD, LYK5	STE20-related kinase adaptor alpha	STRADA	92335	ENSG00000266173		Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive	Strada (MGI:1919399)
chr17	63745255	63773597	17q23.3	17q23.3	618260	CCDC47, THNS	Coiled-coil domain-containing protein 47	CCDC47	57003	ENSG00000108588		Trichohepatoneurodevelopmental syndrome, 618268 (3), Autosomal recessive	Ccdc47 (MGI:1914413)
chr17	63773800	63819317	17q23.3	17q23.3	613369	DDX42, RHELP	DEAD-box helicase 42	DDX42	11325	ENSG00000198231			Ddx42 (MGI:1919297)
chr17	63819433	63827663	17q23.3	17q23.3	618411	FTSJ3	FTSJ RNA 2-prime-O-methyltransferase 3	FTSJ3	117246	ENSG00000108592			Ftsj3 (MGI:1860295)
chr17	63827431	63832019	17q24-q25	17q23.3	601681	PSMC5, TRIP1	Proteasome (prosome, macropain) 26S subunit, ATPase, 5	PSMC5	5705	ENSG00000087191			Psmc5 (MGI:105047)
chr17	63832081	63842685	17q23-q24	17q23.3	601736	SMARCD2, BAF60B, SGD2	SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily d, member 2	SMARCD2	6603	ENSG00000108604		Specific granule deficiency 2, 617475 (3), Autosomal recessive	Smarcd2 (MGI:1933621)
chr17	63857016	63864379	17q23.3	17q23.3	612756	TCAM1P, TCAM1	Testicular cell adhesion molecule 1, pseudogene	TCAM1P	146771	ENSG00000293480			
chr17	63872012	63873729	17q22-q24	17q23.3	118820	CSH2, CSB	Chorionic somatomammotropin B	CSH2	1443	ENSG00000213218			Gh (MGI:95707)
chr17	63880215	63881944	17q22-q24	17q23.3	139240	GH2, GHV	Growth hormone-2	GH2	2689	ENSG00000136487			Gh (MGI:95707)
chr17	63894918	63896574	17q22-q24	17q23.3	150200	CSH1, CSA, PL	Chorionic somatomammotropin hormone-1	CSH1	1442	ENSG00000136488		[Placental lactogen deficiency] (1)	Gh (MGI:95707)
chr17	63909608	63911258	17q22-q24	17q23.3	603515	CSHL1, CSL	Chorionic somatomammotropin hormone-like 1	CSHL1	1444	ENSG00000204414			Gh (MGI:95707)
chr17	63917203	63918839	17q22-q24	17q23.3	139250	GH1, GHN, IGHD1A, IGHD1B, IGHD2	Growth hormone-1	GH1	2688	ENSG00000259384	5'-GH1-CSHP1-CSH1-GH2-CSH2-3'	Kowarski syndrome, 262650 (3), Autosomal recessive; Growth hormone deficiency, isolated, type II, 173100 (3), Autosomal dominant; Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type IA, 262400 (3), Autosomal recessive	Gh (MGI:95707)
chr17	63928740	63932331	17q23	17q23.3	147245	CD79B, IGB, B29, AGM6	CD79B antigen	CD79B	974	ENSG00000007312		Agammaglobulinemia 6, 612692 (3), Autosomal recessive	Cd79b (MGI:96431)
chr17	63938554	63972918	17q23.1-q25.3	17q23.3	603967	SCN4A, HYPP, NAC1A, HOKPP2, CMS16, CMYO22A	Sodium voltage-gated channel, alpha subunit 4	SCN4A	6329	ENSG00000007314	21.5kb from GH1	Paramyotonia congenita, 168300 (3), Autosomal dominant; Hyperkalemic periodic paralysis, 170500 (3), Autosomal dominant; Congenital myopathy 22B, severe fetal, 620369 (3), Autosomal recessive; Hypokalemic periodic paralysis, type 2, 613345 (3), Autosomal dominant; Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3), Autosomal dominant; Myasthenic syndrome, congenital, 16, 614198 (3), Autosomal recessive; Congenital myopathy 22A, classic, 620351 (3), Autosomal recessive	Scn4a (MGI:98250)
chr17	64002595	64020633	17q23-q25	17q23.3	146630	ICAM2	Intercellular adhesion molecule-2	ICAM2	3384	ENSG00000108622			Icam2 (MGI:96394)
chr17	64039142	64130144	17q23.3	17q23.3	604033	ERN1, IRE1, IRE1A	Endoplasmic reticulum-to-nucleus signaling 1	ERN1	2081	ENSG00000178607			Ern1 (MGI:1930134)
chr17	64147227	64263260	17q23.3	17q23.3	619929	TEX2, KIAA1738	Testis-expressed gene 2	TEX2	55852	ENSG00000136478			Tex2 (MGI:102465)
chr17	64319415	64390860	17q23	17q23.3	173445	PECAM1	Platelet/endothelial cell adhesion molecule (CD31 antigen)	PECAM1	5175	ENSG00000261371			Pecam1 (MGI:97537)
chr17	64477785	64497054	17q23-q24	17q23.3	604983	POLG2, POLGB, PEOA4, MTDPS16A, MTDPS16B	Polymerase, DNA, gamma-2	POLG2	11232	ENSG00000256525	mutation identified in 1 MTDPS16A patient and 1 MTDPS16B patient	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3), Autosomal dominant; ?Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 (3), Autosomal recessive; ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), 619425 (3), Autosomal recessive	Polg2 (MGI:1354947)
chr17	64498254	64506866	17q23-q25	17q23.3	180630	DDX5, HLR1, G17P1	DEAD-box helicase 5	DDX5	1655	ENSG00000108654	near BRCA1		Ddx5 (MGI:105037)
chr17	64542282	64662307	17q23.3-q24.1	17q23.3-q24.1	605532	SMURF2	SMAD-specific E3 ubiquitin protein ligase 2	SMURF2	64750	ENSG00000108854			Smurf2 (MGI:1913563)
chr17	64600001	72900000	17q24		115660	CTRCT7, CCA1	Cataract 7		878			Cataract 7, 115660 (2), Autosomal dominant	
chr17	64854130	64919478	17q24.1	17q24.1	616557	LRRC37A3	Leucine-rich repeat-containing protein 37A3	LRRC37A3	374819	ENSG00000176809			Lrrc37,Lrrc37a (MGI:2685097,MGI:2685730)
chr17	65009289	65056740	17q24.3	17q24.1	604406	GNA13	Guanine nucleotide-binding protein, alpha-13	GNA13	10672	ENSG00000120063			Gna13 (MGI:95768)
chr17	65137370	65227703	17q23-q24	17q24.1	604067	RGS9, PERRS1	Regulator of G protein signaling 9	RGS9	8787	ENSG00000108370		Prolonged electroretinal response suppression 1, 608415 (3), Autosomal recessive	Rgs9 (MGI:1338824)
chr17	65528563	65561648	17q24	17q24.1	604025	AXIN2, ODCRCS	Axis inhibitor 2 (conductin, mouse, homolog of)	AXIN2	8313	ENSG00000168646		Colorectal cancer, somatic, 114500 (3); Oligodontia-colorectal cancer syndrome, 608615 (3), Autosomal dominant	Axin2 (MGI:1270862)
chr17	65635537	66192133	17q24.1	17q24.1	618980	CEP112, CCDC46, MACOCO, SPGF44	Centrosomal protein, 112kD	CEP112	201134	ENSG00000154240		Spermatogenic failure 44, 619044 (3), Autosomal recessive	Cep112 (MGI:1923673)
chr17	66200001	72900000	17q24.2-q24.3		135400	HTGH, DEL17q24	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (chromosome 17q24 microdeletion syndrome)					Hypertrichosis terminalis, generalized, with or without gingival hyperplasia, 135400 (4), Autosomal recessive	
chr17	66212033	66229415	17q23-qter	17q24.2	138700	APOH	Apolipoprotein H (beta-2-glycoprotein I)	APOH	350	ENSG00000091583			Apoh (MGI:88058)
chr17	66302613	66810743	17q22-q23.2	17q24.2	176960	PRKCA, PKCA	Protein kinase C, alpha polypeptide	PRKCA	5578	ENSG00000154229	cen-COL1A1-PKCA-GH1	Pituitary tumor, invasive (3)	Prkca (MGI:97595)
chr17	66835117	66894751	17q24	17q24.2	606405	CACNG5	Calcium channel, voltage-dependent, gamma-5 subunit	CACNG5	27091	ENSG00000075429			Cacng5 (MGI:2157946)
chr17	66964707	67033398	17q24.2	17q24.2	606404	CACNG4	Calcium channel, voltage-dependent, gamma-4 subunit	CACNG4	27092	ENSG00000075461			Cacng4 (MGI:1859167)
chr17	67044554	67056797	17q24	17q24.2	114209	CACNG1, CACNLG	Calcium channel, voltage-dependent, gamma-1 subunit	CACNG1	786	ENSG00000108878			Cacng1 (MGI:1206582)
chr17	67070444	67245989	17q24.2	17q24.2	606699	HELZ, KIAA0054, HUMORF5	Helicase with zinc finger domain	HELZ	9931	ENSG00000198265			Helz (MGI:1925705)
chr17	67337916	67366577	17q24.2	17q24.2	604450	PSMD12, P55, STISS	Proteasome 26S subunit, non-ATPase, 12	PSMD12	5718	ENSG00000197170		Stankiewicz-Isidor syndrome, 617516 (3), Autosomal dominant	Psmd12 (MGI:1914247)
chr17	67377281	67697256	17q24.2	17q24.2	605134	PITPNC1, RDGBB	Phosphatidylinositol transfer protein, cytoplasmic, 1	PITPNC1	26207	ENSG00000154217			Pitpnc1 (MGI:1919045)
chr17	67717936	67744531	17q24.2	17q24.2	615366	NOL11	Nucleolar protein 11	NOL11	25926	ENSG00000130935			Nol11 (MGI:1916229)
chr17	67825503	67984378	17q24	17q24.2	601819	BPTF, FALZ, FAC1, NURF301, NEDDFL	Bromodomain PHD finger transcription factor	BPTF	2186	ENSG00000171634		Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3), Autosomal dominant; {Kaposi sarcoma, susceptibility to}, 148000 (3), Autosomal dominant	Bptf (MGI:2444008)
chr17	68035735	68046854	17q23-q24	17q24.2	600685	KPNA2, RCH1, QIP2	Karyopherin alpha-2	KPNA2	3838	ENSG00000182481			Kpna2,Kpna2rt (MGI:103561,MGI:3704480)
chr17	68206129	68257164	17q24.2	17q24.2	615169	AMZ2	Archaelysin family metallopeptidase 2	AMZ2	51321	ENSG00000196704			Amz2 (MGI:104837)
chr17	68259170	68452019	17q24.2	17q24.2	610008	ARSG, KIAA1001, USH4	Arylsulfatase G	ARSG	22901	ENSG00000141337		Usher syndrome, type IV, 618144 (3), Autosomal recessive	Arsg (MGI:1921258)
chr17	68267026	68291479	17q24.2	17q24.2	603880	SLC16A6, MCT7	Solute carrier family 16 (monocarboxylic acid transporter) member 6	SLC16A6	9120	ENSG00000108932			Slc16a6 (MGI:2144585)
chr17	68413623	68551316	17q23-q24	17q24.2	188830	PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1	Protein kinase, cAMP-dependent, regulatory, type I, alpha	PRKAR1A	5573	ENSG00000108946	fused with RET to form PTC2	Pigmented nodular adrenocortical disease, primary, 1, 610489 (3), Autosomal dominant; Acrodysostosis 1, with or without hormone resistance, 101800 (3), Autosomal dominant; Adrenocortical tumor, somatic (3); Carney complex, type 1, 160980 (3), Autosomal dominant; Myxoma, intracardiac, 255960 (3), Autosomal dominant	Prkar1a (MGI:104878)
chr17	68421281	68457496	17q24.2	17q24.2	609224	WIPI1, WIPI49	WD40 repeat protein interacting with phosphoinositides 1	WIPI1	55062	ENSG00000070540			Wipi1 (MGI:1261864)
chr17	68535116	68601367	17q24.2	17q24.2	611062	FAM20A, AIGFS, AI1G	Family with sequence similarity 20, member A	FAM20A	54757	ENSG00000108950		Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3), Autosomal recessive	Fam20a (MGI:2388266)
chr17	68867289	68955392	17q24.2	17q24.2	612505	ABCA8, KIAA0822	ATP-binding cassette, subfamily A, member 8	ABCA8	10351	ENSG00000141338			Abca8a,Abca8b (MGI:1351668,MGI:2386846)
chr17	68974488	69078977	17q24.2	17q24.2	612507	ABCA9	ATP-binding cassette, subfamily A, member 9	ABCA9	10350	ENSG00000154258			Abca9 (MGI:2386796)
chr17	69078702	69141895	17q24.2	17q24.2-q24.3	612504	ABCA6	ATP-binding cassette, subfamily A, member 6	ABCA6	23460	ENSG00000154262			Abca6 (MGI:1923434)
chr17	69100001	76800000	17q24.3-q25.1		261800	PRBNS	Pierre Robin syndrome		100301572		between D17S795 and D17S929	Pierre Robin syndrome, 261800 (2), Autosomal recessive	
chr17	69100001	72900000	17q24.3		614834	TTPP3	Thyrotoxic periodic paralysis, susceptibility to, 3		112272595		associated with rs312691	{Thyrotoxic periodic paralysis, susceptibility to, 3}, 614834 (2)	
chr17	69148007	69244848	17q24.2	17q24.3	612508	ABCA10	ATP-binding cassette, subfamily A, member 10	ABCA10	10349	ENSG00000154263			
chr17	69244311	69327133	17q24.2	17q24.3	612503	ABCA5, KIAA1888, HTC3	ATP-binding cassette, subfamily A, member 5	ABCA5	23461	ENSG00000154265	mutation identified in 1 HTC3 patient	?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3), Autosomal recessive	Abca5 (MGI:2386607)
chr17	69414697	69553865	17q24.3	17q24.3	601254	MAP2K6, PRKMK6, MKK6, MEK6, MAPKK6	Mitogen-activated protein kinase kinase 6	MAP2K6	5608	ENSG00000108984			Map2k6 (MGI:1346870)
chr17	70075225	70135608	17q25	17q24.3	605722	KCNJ16, KIR5.1, HKTD	Potassium channel, inwardly rectifying, subfamily J, member 16	KCNJ16	3773	ENSG00000153822		Hypokalemic tubulopathy and deafness, 619406 (3), Autosomal recessive	Kcnj16 (MGI:1314842)
chr17	70169532	70180044	17q23.1-q24.2	17q24.3	600681	KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9	Potassium channel, inwardly rectifying, subfamily J, member 2	KCNJ2	3759	ENSG00000123700		Atrial fibrillation, familial, 9, 613980 (3), Autosomal dominant; Andersen syndrome, 170390 (3), Autosomal dominant; Short QT syndrome 3, 609622 (3), Autosomal dominant	Kcnj2 (MGI:104744)
chr17	72121020	72126416	17q24.3-q25.1	17q24.3	608160	SOX9, CMD1, SRA1, TES, TESCO, ENH13	SRY (sex-determining region Y)-box 9	SOX9	6662	ENSG00000125398	SRXY10 due to deletion of upstream regulatory region; SRXX2 due to duplication of upstream regulatory region	Campomelic dysplasia with autosomal sex reversal, 114290 (3), Autosomal dominant; 46XY sex reversal 10, 616425 (3), Autosomal dominant; Acampomelic campomelic dysplasia, 114290 (3), Autosomal dominant; Campomelic dysplasia, 114290 (3), Autosomal dominant; 46XX sex reversal 2, 278850 (3), Autosomal dominant	Sox9 (MGI:98371)
chr17	72403322	72592804	17q24.3	17q24.3	617079	LINC00673, HILNC75, SLNCR, LUCAIR1	Long intergenic noncoding RNA 673	LINC00673	100499467	ENSG00000227036			
chr17	72645949	73092688	17q24.3-q25.1	17q24.3-q25.1	616508	SLC39A11, ZIP11, C17orf26	Solute carrier family 39 (zinc transporter), member 11	SLC39A11	201266	ENSG00000133195			Slc39a11 (MGI:1917056)
chr17	72900001	83257441	17q25		602197	CDR3	Cerebellar degeneration-related autoantigen-3		8163				
chr17	72900001	83257441	17q25		603411	EPR1	Effector cell protease receptor 1						
chr17	72900001	83257441	17q25.1-q25.3		614149	NDNC9	Nail disorder, nonsyndromic congenital, 9 (anonychia-onycholysis)		100682325		max lod at D17S1301	Nail disorder, nonsyndromic congenital, 9, 614149 (2), Autosomal recessive	
chr17	73165010	73176633	17q24	17q25.1	182452	SSTR2	Somatostatin receptor-2	SSTR2	6752	ENSG00000180616			Sstr2 (MGI:98328)
chr17	73193055	73208507	17q25.1	17q25.1	606973	COG1, LDLB, KIAA1381, CDG2G	Component of oligomeric golgi complex 1	COG1	9382	ENSG00000166685		Congenital disorder of glycosylation, type IIg, 611209 (3), Autosomal recessive	Cog1 (MGI:1333873)
chr17	73207353	73232394	17q25.1	17q25.1	621109	VCF1, FAM104A	VCP nuclear cofactor family, member 1	VCF1	84923	ENSG00000133193			
chr17	73232433	73248959	17q25.1	17q25.1	620717	MTNAP1, C17orf80	Mitochondrial nucleoid-associated protein 1	MTNAP1	55028	ENSG00000141219			Mtnap1 (MGI:106356)
chr17	73283624	73312001	17q24-q25	17q25.1	605468	CDC42EP4, BORG4	CDC42 effector protein 4 (binder of Rho GTPases 4)	CDC42EP4	23580	ENSG00000179604			Cdc42ep4 (MGI:1929760)
chr17	73334384	73644445	17q25.1	17q25.1	607217	SDK2, KIAA1514	Sidekick cell adhesion molecule 2	SDK2	54549	ENSG00000069188			Sdk2 (MGI:2443847)
chr17	74203678	74210655	17q	17q25.1	604182	RPL38	Ribosomal protein L38	RPL38	6169	ENSG00000172809			Rpl38 (MGI:1914921)
chr17	74213571	74262020	17q25.1	17q25.1	608855	TTYH2	Tweety family member 2	TTYH2	94015	ENSG00000141540			Ttyh2 (MGI:2157091)
chr17	74274234	74314884	17q25	17q25.1	605483	DNAI2, CILD9	Dynein, axonemal, intermediate chain 2	DNAI2	64446	ENSG00000171595		Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3), Autosomal recessive	Dnai2 (MGI:2685574)
chr17	74326226	74355820	17q25.1	17q25.1	619610	KIF19	Kinesin family member 19	KIF19	124602	ENSG00000196169			Kif19a (MGI:2447024)
chr17	74367506	74372600	17q25.1	17q25.1	609046	GPR142, PGR2	G protein-coupled receptor 142	GPR142	350383	ENSG00000257008			Gpr142 (MGI:2668437)
chr17	74432088	74451658	17q25.1-q25.3	17q25.1	605949	GPRC5C, RAIG3	G protein-coupled receptor, family C, group 5, member C	GPRC5C	55890	ENSG00000170412			Gprc5c (MGI:1917605)
chr17	74466373	74484798	17q24	17q25.1	606790	CMRF35H, CMRF35H9	CMRF35H antigen	CD300A	11314	ENSG00000167851			Cd300a (MGI:2443411)
chr17	74521174	74531475	17q25.1	17q25.1	610705	CD300LB, TREM5, IREM3	CD300 antigen-like family, member B	CD300LB	124599	ENSG00000178789			Cd300lb (MGI:2685099)
chr17	74534635	74546115	17q22-q24	17q25.1	606786	CMRF35, CMRF35A	CMRF35 antigen	CD300C	10871	ENSG00000167850			Cd300c,Cd300c2 (MGI:2153249,MGI:3032626)
chr17	74557243	74567509	17q25.1	17q25.1	616560	CD300H	CD300H antigen	CD300H	100130520	ENSG00000284690			
chr17	74578643	74592283	17q25.1	17q25.1	616301	CD300LD, CD300D	CD300 antigen-like family, member D	CD300LD	100131439	ENSG00000204345			Cd300ld,Cd300ld2,Cd300ld3,Cd300ld4,Cd300ld5 (MGI:2442358,MGI:2687214,MGI:3649405,MGI:3702658,MGI:3702661)
chr17	74609885	74623738	17q25.1	17q25.1	609801	CD300E, CD300LE, IREM2, CLM2	CD300E antigen	CD300E	342510	ENSG00000186407			Cd300e (MGI:2387602)
chr17	74671131	74747335	17q25.1	17q25.1	609956	RAB37	Pas-associated protein RAB37	RAB37	326624	ENSG00000172794			Rab37 (MGI:1929945)
chr17	74694317	74712923	17q25.1	17q25.1	609807	CD300LF, IGSF13, IREM1, CLM1	CD300 antigen-like family, member F	CD300LF	146722	ENSG00000186074			Cd300lf (MGI:2442359)
chr17	74748628	74769353	17q25.1	17q25.1	604990	SLC9A3R1, EBP50, NHERF1, NPHLOP2	Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulatory factor 1	NHERF1	9368	ENSG00000109062		Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3), Autosomal dominant	Nherf1 (MGI:1349482)
chr17	74770529	74776345	17q25.1	17q25.1	620913	NAT9	N-acetyltransferase 9	NAT9	26151	ENSG00000109065			Nat9 (MGI:1913426)
chr17	74842023	74861532	17q25	17q25.1	138254	GRIN2C, NMDAR2C	Glutamate receptor, ionotropic, N-methyl D-aspartate 2C	GRIN2C	2905	ENSG00000161509			Grin2c (MGI:95822)
chr17	74862497	74872994	17q24-q25	17q25.1	103270	FDXR, ADXR, ANOA, MMDS9B	Ferredoxin reductase (adrenodoxin reductase)	FDXR	2232	ENSG00000161513		Multiple mitochondrial dysfunctions syndrome 9B, 620887 (3), Autosomal recessive; Auditory neuropathy and optic atrophy, 617717 (3), Autosomal recessive	Fdxr (MGI:104724)
chr17	74874787	74893633	17q25.1	17q25.1	620577	FADS6	Fatty acid desaturase 6	FADS6	283985	ENSG00000172782			Fads6 (MGI:3039592)
chr17	74916083	74923255	17q24-q25	17q25.1	607696	USH1G, SANS	USH1 protein network component SANS	USH1G	124590	ENSG00000182040	?allelic to DFNA20	Usher syndrome, type 1G, 606943 (3), Autosomal recessive	Ush1g (MGI:2450757)
chr17	74924273	74933912	17q25.3	17q25.1	607827	OTOP2	Otopetrin 2	OTOP2	92736	ENSG00000183034			Otop2 (MGI:2388365)
chr17	74935802	74949992	17q25.3	17q25.1	607828	OTOP3	Otopetrin 3	OTOP3	347741	ENSG00000182938			Otop3 (MGI:1916852)
chr17	74950742	74972759	17q25.1	17q25.1	605752	HID1, 17orf28, DMC1, DEE105	HID1 domain-containing protein 1	HID1	283987	ENSG00000167861		Developmental and epileptic encephalopathy 105 with hypopituitarism, 619983 (3), Autosomal recessive	Hid1 (MGI:2445087)
chr17	75012670	75021261	17q25.1	17q25.1	603000	MRPL58, ICT1, DS1	Mitochondrial ribosomal protein L58	MRPL58	3396	ENSG00000167862			Mrpl58 (MGI:1915822)
chr17	75032571	75065886	17q25.1	17q25.1	613422	KCTD2, KIAA0176	Potassium channel tetramerization domain-containing 2	KCTD2	23510	ENSG00000180901			Kctd2 (MGI:1917632)
chr17	75038863	75046969	17q25.1	17q25.1	618121	ATP5PD, APT5H	ATP synthase, peripheral stalk, subunit D	ATP5PD	10476	ENSG00000167863			Atp5pd (MGI:1918929)
chr17	75087385	75110149	17q25.1	17q25.1	603879	SLC16A5, MCT6	Solute carrier family 16 (monocarboxylic acid transporter) member 5	SLC16A5	9121	ENSG00000170190			Slc16a5 (MGI:2443515)
chr17	75130228	75131742	17q23-q25	17q25.1	191720	NT5C, UMPH2, DNT1	5', 3' nucleotidase, cytosolic	NT5C	30833	ENSG00000125458			Nt5c (MGI:1354954)
chr17	75135243	75154512	17q25.2	17q25.1	619242	JPT1, HN1	Jupiter microtubule-associated homolog 1	JPT1	51155	ENSG00000189159	pseudogene on chr.2		Jpt1 (MGI:1096361)
chr17	75165586	75182959	17q25.1	17q25.1	603042	SUMO2, SMT3B	Small ubiquitin-like modifier 2	SUMO2	6613	ENSG00000188612			Sumo2 (MGI:2158813)
chr17	75205679	75235758	17q25	17q25.1	170285	NUP85, PCNT1, PCNT, NPHS17	Nucleoporin 85kD	NUP85	79902	ENSG00000125450		Nephrotic syndrome, type 17, 618176 (3), Autosomal recessive	Nup85 (MGI:3046173)
chr17	75261879	75266376	17q23-q25	17q25.1	611974	MRPS7, COXPD34	Mitochondrial ribosomal protein S7	MRPS7	51081	ENSG00000125445	mutation identified in 1 COXPD34 family	?Combined oxidative phosphorylation deficiency 34, 617872 (3), Autosomal recessive	Mrps7 (MGI:1354367)
chr17	75236599	75262363	Chr.17	17q25.1	606006	GGA3, KIAA0154	Golgi associated, gamma adaptin ear containing, ARF binding protein 3	GGA3	23163	ENSG00000125447			Gga3 (MGI:2384159)
chr17	75266228	75271292	17q25.1	17q25.1	612072	MIF4GD, SLIP1	MIF4G domain-containing protein	MIF4GD	57409	ENSG00000125457			Mif4gd (MGI:1916924)
chr17	75272992	75289433	17q25.3	17q25.1	606521	SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4	Solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19	SLC25A19	60386	ENSG00000125454		Microcephaly, Amish type, 607196 (3), Autosomal recessive; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3), Autosomal recessive	Slc25a19 (MGI:1914533)
chr17	75318076	75405678	17q24-q25	17q25.1	108355	GRB2	Growth factor receptor-bound protein 2	GRB2	2885	ENSG00000177885			Grb2 (MGI:95805)
chr17	75456635	75500452	17q25.1	17q25.1	618163	TMEM94, KIAA0195, IDDCDF	Transmembrane protein 94	TMEM94	9772	ENSG00000177728		Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 (3), Autosomal recessive	Tmem94 (MGI:1919197)
chr17	75500261	75515537	17q25.1	17q25.1	612185	CASKIN2, KIAA1139	CASK-interacting protein 2	CASKIN2	57513	ENSG00000177303			Caskin2 (MGI:2157062)
chr17	75516528	75524735	17q25.1	17q25.1	608755	TSEN54, SEN54, PCH2A, PCH4, PCH5	tRNA splicing endonuclease, subunit 54	TSEN54	283989	ENSG00000182173	mutation identified in 1 PCH5 patient	Pontocerebellar hypoplasia type 2A, 277470 (3), Autosomal recessive; Pontocerebellar hypoplasia type 4, 225753 (3), Autosomal recessive; ?Pontocerebellar hypoplasia type 5, 610204 (3), Autosomal recessive	Tsen54 (MGI:1923515)
chr17	75525002	75575209	17q25.1	17q25.1	618483	LLGL2	LLGL scribble cell polarity complex component 2	LLGL2	3993	ENSG00000073350			Llgl2 (MGI:1918843)
chr17	75587800	75626849	17q25	17q25.1	620915	MYO15B	Myosin XVB	MYO15B	80022	ENSG00000266714			Myo15b (MGI:2685534)
chr17	75626854	75667154	17q25	17q25.1	603781	RECQL5, RECQ5	DNA helicase, RecQ-like 5	RECQL5	9400	ENSG00000108469			Recql5 (MGI:2156841)
chr17	75646251	75647974	17q25.1	17q25.1	620531	SMIM6, ELN	Small integral membrane protein 6	ERLN	100130933	ENSG00000259120			Erln (MGI:1915778)
chr17	75667338	75708059	17q25.1	17q25.1	610218	SAP30BP, HTRP, HCNGP, HTRG	SAP30-binding protein	SAP30BP	29115	ENSG00000161526			Sap30bp (MGI:1927479)
chr17	75721459	75757818	17q11-qter	17q25.1	147557	ITGB4, JEB5B, JEB5A	Integrin, beta-4	ITGB4	3691	ENSG00000132470		Epidermolysis bullosa, junctional 5B, with pyloric atresia, 226730 (3), Autosomal recessive; Epidermolysis bullosa, junctional 5A, intermediate, 619816 (3), Autosomal recessive	Itgb4 (MGI:96613)
chr17	75751469	75765192	17q24	17q25.1	604313	GALK1	Galactokinase-1	GALK1	2584	ENSG00000108479		Galactokinase deficiency with cataracts, 230200 (3), Autosomal recessive	Galk1 (MGI:95730)
chr17	75776434	75779779	17q25	17q25.1	601058	H3-3B, H3F3B, BRYLIB2	H3.3 histone B	H3-3B	3021	ENSG00000132475		Bryant-Li-Bhoj neurodevelopmental syndrome 2, 619721 (3), Autosomal dominant	H3f3a,H3f3b (MGI:1097686,MGI:1101768)
chr17	75784806	75825799	17q25.1	17q25.1	616375	UNK, UNKEMPT, ZC3H5, KIAA1753	Unkempt family zinc finger protein	UNK	85451	ENSG00000132478			Unk (MGI:2442456)
chr17	75827225	75844404	17q25.1	17q25.1	608897	UNC13D, MUNC13-4, HPLH3, HLH3, FHL3	unc-13 homolog D	UNC13D	201294	ENSG00000092929		Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3), Autosomal recessive	Unc13d (MGI:1917700)
chr17	75845699	75856436	17q25	17q25.1	606962	WBP2, DFNB107	WW domain-binding protein 2	WBP2	23558	ENSG00000132471		Deafness, autosomal recessive 107, 617639 (3), Autosomal recessive	Wbp2 (MGI:104709)
chr17	75874164	75878581	17q24-q25	17q25.1	611041	TRIM47, GOA	Tripartite motif-containing protein 47	TRIM47	91107	ENSG00000132481			Trim47 (MGI:1917374)
chr17	75879537	75896951	17q25.1	17q25.1	619408	TRIM65	Tripartite motif-containing protein 65	TRIM65	201292	ENSG00000141569			Trim65 (MGI:2442815)
chr17	75898644	75904884	17q23-q25	17q25.1	611844	MRPL38	Mitochondrial ribosomal protein L38	MRPL38	64978	ENSG00000204316			Mrpl38 (MGI:1926269)
chr17	75909574	75941042	17q25.1	17q25.1	616807	FGF1, ALB	FAS-binding factor 1	FBF1	85302	ENSG00000188878			Fbf1 (MGI:1922033)
chr17	75941507	75979166	17q25.1	17q25.1	609751	ACOX1, ACOX, SCOX, MITCH	Acyl-Coenzyme A oxidase 1, palmitoyl	ACOX1	51	ENSG00000161533		Mitchell syndrome, 618960 (3), Autosomal dominant; Peroxisomal acyl-CoA oxidase deficiency, 264470 (3), Autosomal recessive	Acox1 (MGI:1330812)
chr17	75979240	76000586	17q25.1	17q25.1	613130	TEN1, C17orf106	TEN1, CST complex subunit	TEN1	100134934	ENSG00000257949			Ten1 (MGI:1916785)
chr17	76000855	76005998	17q22-qter	17q25.1	123828	CDK3	Cyclin-dependent kinase 3	CDK3	1018	ENSG00000250506	distal to BRCA1		Cdk3 (MGI:1916931)
chr17	76006845	76027306	17q25	17q25.1	601590	EVPL	Envoplakin	EVPL	2125	ENSG00000167880			Evpl (MGI:107507)
chr17	76038785	76072517	17q25.1	17q25.1	604858	SRP68, SCN10	Signal recognition particle, 68kD	SRP68	6730	ENSG00000167881	mutation identified in 1 SCN10 patient	?Neutropenia, severe congenital, 10, autosomal recessive, 620534 (3), Autosomal recessive	Srp68 (MGI:1917447)
chr17	76071962	76077537	17q25.3	17q25.1	603691	GALR2, GALNR2	Galanin receptor 2	GALR2	8811	ENSG00000182687			Galr2 (MGI:1337018)
chr17	76079182	76082806	17q25.3	17q25.1	610935	ZACN, LGICZ1, ZAC, L2	Zinc activated ion channel	ZACN	353174	ENSG00000186919			
chr17	76081016	76103787	17q25.1	17q25.1	608163	EXOC7, EX070, KIAA1067, NEDSEBA	Exocyst complex component 7	EXOC7	23265	ENSG00000182473		Neurodevelopmental disorder with seizures and brain atrophy, 619072 (3), Autosomal recessive	Exoc7 (MGI:1859270)
chr17	76136333	76141245	17q22-q25	17q25.1	602291	FOXJ1, FKHL13, HFH4, CILD43	Forkhead box J1	FOXJ1	2302	ENSG00000129654		Ciliary dyskinesia, primary, 43, 618699 (3), Autosomal dominant	Foxj1 (MGI:1347474)
chr17	76142474	76240493	17q25.1	17q25.1	621044	RNF157	RING finger protein 157	RNF157	114804	ENSG00000141576			Rnf157 (MGI:2442484)
chr17	76274049	76310964	17q25.1	17q25.1	618304	QRICH2, SPGF35	Glutamine-rich protein 2	QRICH2	84074	ENSG00000129646		Spermatogenic failure 35, 618341 (3), Autosomal recessive	Qrich2 (MGI:2684912)
chr17	76309478	76354198	17q24-q25	17q25.1	601249	PRPSAP1	Phosphoribosyl pyrophosphate synthetase-associated protein-1	PRPSAP1	5635	ENSG00000161542			Prpsap1 (MGI:1915013)
chr17	76383204	76387855	17q25.2	17q25.1	603730	SPHK1	Sphingosine kinase	SPHK1	8877	ENSG00000176170			Sphk1 (MGI:1316649)
chr17	76389456	76453152	17q25.1	17q25.1	617649	UBE2O, KIAA1734	Ubiquitin-conjugating enzyme E2 O	UBE2O	63893	ENSG00000175931			Ube2o (MGI:2444266)
chr17	76453351	76470117	17q25	17q25.1	600950	AANAT, SNAT	Arylalkylamine N-acetyltransferase	AANAT	15	ENSG00000129673			Aanat (MGI:1328365)
chr17	76470893	76501427	17q25.1	17q25.1	614404	RHBDF2, IRHOM2, TOC	Rhomboid 5, Drosophila, homolog of, 2	RHBDF2	79651	ENSG00000129667		Tylosis with esophageal cancer, 148500 (3), Autosomal dominant	Rhbdf2 (MGI:2442473)
chr17	76527356	76551193	17q25	17q25.1	608759	CYGB, HGB, STAP	Cytoglobin	CYGB	114757	ENSG00000161544			Cygb (MGI:2149481)
chr17	76527586	76553580	17q22	17q25.1	610598	PRCD, RP36	Photoreceptor disc component	PRCD	768206	ENSG00000214140		Retinitis pigmentosa 36, 610599 (3)	Prcd (MGI:3649529)
chr17	76565377	76585860	17q25.1	17q25.1	610137	ST6GALNAC2, SIAT7B, SAITL1	ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	ST6GALNAC2	10610	ENSG00000070731			St6galnac2 (MGI:107553)
chr17	76617407	76643757	17q25.1	17q25.1	610138	ST6GALNAC1, SIAT7A, STYI	ST6 alpha-N-aetyl-neuraminyl-2,3-beta-galactosyl-1, 3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	ST6GALNAC1	55808	ENSG00000070526			St6galnac1 (MGI:1341826)
chr17	76712836	76726606	17q25	17q25.1	604914	JMJD6, PSR	Jumonji domain containing 6 (phosphatidylserine receptor)	JMJD6	23210	ENSG00000070495			Jmjd6 (MGI:1858910)
chr17	76726041	76733881	17q25.1	17q25.1	615262	METTL23, C17orf95, MRT44	Methyltransferase-like 23	METTL23	124512	ENSG00000181038		Intellectual developmental disorder, autosomal recessive 44, 615942 (3), Autosomal recessive	Mettl23 (MGI:1921569)
chr17	76734115	76737411	17q25	17q25.1	600813	SRSF2, SFRS2, SC35	Serine/arginine-rich splicing factor 2	SRSF2	6427	ENSG00000161547			Srsf2 (MGI:98284)
chr17	76736634	76803805	17q25.1	17q25.1-q25.2	620346	MFSD11	Major facilitator superfamily domain-containing protein 11	MFSD11	79157	ENSG00000092931			Mfsd11 (MGI:1917150)
chr17	76868404	76950393	17q25.3	17q25.2	612441	MGAT5B	Alpha-1,6-mannosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isozyme B	MGAT5B	146664	ENSG00000167889			Mgat5b (MGI:3606200)
chr17	77088643	77094986	17q25.2	17q25.2	620555	SNHG20, LINC00338	Small nucleolar RNA host gene 20	SNHG20	654434	ENSG00000234912			Snhg20 (MGI:1924222)
chr17	77088685	77217101	17q25.1-q25.2	17q25.2-q25.3	601504	SEC14L	SEC14-like lipid-binding protein 1	SEC14L1	6397	ENSG00000129657			Sec14l1 (MGI:1921386)
chr17	77200001	83257441	17q25.3		605805	ATOD4	Dermatitis, atopic, 4				maximum lod at D17S1290	{Dermatitis, atopic, susceptibility to, 4}, 605805 (2)	
chr17	77200001	83257441	17q25.3		612239	IS5	Scoliosis, idiopathic, susceptibility to, 5		100190985		between D17S1806 and 17qter	{Scoliosis, idiopathic, susceptibility to, 5}, 612239 (2)	
chr17	77281499	77500596	17q25	17q25.3	604061	SEPT9, MSF, MSF1, NAPB	Septin 9	SEPTIN9	10801	ENSG00000184640		Amyotrophy, hereditary neuralgic, 162100 (3), Autosomal dominant	Septin9 (MGI:1858222)
chr17	77957557	78108835	17q25.3	17q25.3	610741	TNRC6C, KIAA1582	Trinucleotide repeat-containing gene 6C	TNRC6C	57690	ENSG00000078687			Tnrc6c (MGI:2443265)
chr17	78107397	78132427	17q25	17q25.3	605828	TMC6, EVER1, EV1	Transmembrane channel-like 6	TMC6	11322	ENSG00000141524		{Epidermodysplasia verruciformis, susceptibility to, 1}, 226400 (3), Autosomal recessive	Tmc6 (MGI:1098686)
chr17	78130771	78142968	17q25	17q25.3	605829	TMC8, EVER2, EV2	Transmembrane channel-like 8	TMC8	147138	ENSG00000167895		{Epidermodysplasia verruciformis, susceptibility to, 2}, 618231 (3), Autosomal recessive	Tmc8 (MGI:2669037)
chr17	78168545	78172964	17q25	17q25.3	603926	SYNGR2	Synaptogyrin 2	SYNGR2	9144	ENSG00000108639	pseudogene on 15q11; near EV1, EV2, TK1		Syngr2 (MGI:1328324)
chr17	78174079	78187204	17q25.2-q25.3	17q25.3	188300	TK1	Thymidine kinase-1	TK1	7083	ENSG00000167900			Tk1 (MGI:98763)
chr17	78214253	78225635	17q25	17q25.3	603352	BIRC5, API4	Baculoviral IAP repeat-containing protein 5	BIRC5	332	ENSG00000089685			Birc5 (MGI:1203517)
chr17	78231293	78240987	17q25.3	17q25.3	620272	TMEM235	Transmembrane protein 235	TMEM235	283999	ENSG00000204278			Tmem235 (MGI:3651706)
chr17	78356778	78360925	17q25.3	17q25.3	604176	SOCS3, SSI3, CIS3	Suppressor of cytokine signaling 3	SOCS3	9021	ENSG00000184557			Socs3 (MGI:1201791)
chr17	78378649	78424659	17q25.3	17q25.3	614942	PGS1	Phosphatidylglycerophosphate synthase 1	PGS1	9489	ENSG00000087157			Pgs1 (MGI:1921701)
chr17	78423697	78577396	17q25	17q25.3	610063	DNAH17, DNEL2, SPGF39	Dynein, axonemal, heavy chain 17	DNAH17	8632	ENSG00000187775		Spermatogenic failure 39, 618643 (3), Autosomal recessive	Dnah17 (MGI:1917176)
chr17	78674048	78782273	17q25	17q25.3	182115	CYTH1, D17S811E, SEC7	Cytohesin 1	CYTH1	9267	ENSG00000108669			Cyth1 (MGI:1334257)
chr17	78787381	78841439	17q25.3	17q25.3	612543	USP36, KIAA1453	Ubiquitin-specific protease 36	USP36	57602	ENSG00000055483			Usp36 (MGI:1919594)
chr17	78852977	78925387	17q25	17q25.3	188825	TIMP2	Tissue inhibitor of metalloproteinase-2	TIMP2	7077	ENSG00000035862			Timp2 (MGI:98753)
chr17	78971255	78979923	17q25	17q25.3	600626	LGALS3BP	Lectin, galactoside-binding, soluble, 3 binding protein (galectin 6 binding protein)	LGALS3BP	3959	ENSG00000108679			Lgals3bp (MGI:99554)
chr17	78991716	79009764	17q25.3	17q25.3	613165	CANT1, SCAN1, DBQD1, EDM7	Calcium-activated nucleotidase 1	CANT1	124583	ENSG00000171302		Desbuquois dysplasia 1, 251450 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 7, 617719 (3), Autosomal recessive	Cant1 (MGI:1923275)
chr17	79022934	79049788	17q25	17q25.3	610365	C1QTNF1, GIP	C1q- and tumor necrosis factor-related protein 1	C1QTNF1	114897	ENSG00000173918			C1qtnf1 (MGI:1919254)
chr17	79074824	79088599	17q25.3	17q25.3	611898	NAGLUEB, FLJ21865	N-acetylglucosaminidase, endo-beta	ENGASE	64772	ENSG00000167280			Engase (MGI:2443788)
chr17	79089345	79665571	17q25.3	17q25.3	616999	RBFOX3, FOX3, NEUN, HRNBP3	RNA-binding protein FOX1, C. Elegans, homolog of, 3	RBFOX3	146713	ENSG00000167281			Rbfox3 (MGI:106368)
chr17	79730943	79742219	17q25.3	17q25.3	616997	ENPP7	Ectonucleotide pyrophosphatase/phosphodiesterase 7	ENPP7	339221	ENSG00000182156			Enpp7 (MGI:3027917)
chr17	79777311	79787983	17q25	17q25.3	602770	CBX2, M33, SRXY5	Chromobox 2	CBX2	84733	ENSG00000173894	mutation identified in 1 SRXY5 patient	?46XY sex reversal 5, 613080 (3), Autosomal recessive	Cbx2 (MGI:88289)
chr17	79792132	79797077	17q25.3	17q25.3	617354	CBX8, PC3	Chromobox 8	CBX8	57332	ENSG00000141570			Cbx8 (MGI:1353589)
chr17	79833156	79839440	17q25.3	17q25.3	603079	CBX4, PC2	Chromobox 4	CBX4	8535	ENSG00000141582			Cbx4 (MGI:1195985)
chr17	79932343	80035872	17q25.3	17q25.3	616637	TBC1D16	TBC1 domain family, member 16	TBC1D16	125058	ENSG00000167291			Tbc1d16 (MGI:2652878)
chr17	80036642	80100613	17q25.3	17q25.3	613799	CCDC40, KIAA1640	Coiled-coil domain-containing protein 40	CCDC40	55036	ENSG00000141519		Ciliary dyskinesia, primary, 15, 613808 (3), Autosomal recessive	Ccdc40 (MGI:2443893)
chr17	80101581	80119881	17q25.2-q25.3	17q25.3	606800	GAA	Glucosidase, acid alpha-	GAA	2548	ENSG00000171298	distal to TK1	Glycogen storage disease II, 232300 (3), Autosomal recessive	Gaa (MGI:95609)
chr17	80134369	80147128	17q25.3	17q25.3	608546	EIF4A3, DDX48, MUK34, NMP265, KIAA0111, RCPS	Eukaryotic translation initiation factor 4A3	EIF4A3	9775	ENSG00000141543		Robin sequence with cleft mandible and limb anomalies, 268305 (3), Autosomal recessive	Eif4a3,Eif4a3l1,Eif4a3l2 (MGI:1923731,MGI:3644226,MGI:3646594)
chr17	80170030	80209331	17q25.3	17q25.3	607211	CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP	Caspase recruitment domain-containing protein 14	CARD14	79092	ENSG00000141527		Psoriasis 2, 602723 (3), Autosomal dominant; Pityriasis rubra pilaris, 173200 (3), Autosomal dominant	Card14 (MGI:2386258)
chr17	80200673	80220333	17q25.3	17q25.3	605270	SGSH, MPS3A, SFMD	N-sulfoglucosamine sulfohydrolase (sulfamidase)	SGSH	6448	ENSG00000181523		Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3), Autosomal recessive	Sgsh (MGI:1350341)
chr17	80220427	80253500	17q25	17q25.3	610117	SLC26A11	Solute carrier family 26 (sulfate transporter), member 11	SLC26A11	284129	ENSG00000181045			Slc26a11 (MGI:2444589)
chr17	80260852	80398794	17q25	17q25.3	613768	RNF213, ALO17, KIAA1618, MYMY2	RING finger protein 213	RNF213	57674	ENSG00000173821		{Moyamoya disease 2, susceptibility to}, 607151 (3), Autosomal recessive, Autosomal dominant	Rnf213 (MGI:1289196)
chr17	80415167	80438086	17q25.3	17q25.3	619821	ENDOV	Endonuclease V	ENDOV	284131	ENSG00000173818			Endov (MGI:2444688)
chr17	80466834	80476607	17q25.1-q25.2	17q25.3	602367	NPTX1, NP1, SCA50	Neuronal pentraxin 1	NPTX1	4884	ENSG00000171246		Spinocerebellar ataxia 50, 620158 (3), Autosomal dominant	Nptx1 (MGI:107811)
chr17	80544838	80966368	17q25.3	17q25.3	607130	RPTOR, RAPTOR, KIAA1303	Regulatory-associated protein of MTOR	RPTOR	57521	ENSG00000141564			Rptor (MGI:1921620)
chr17	80991841	81000133	17q25.3	17q25.3	610901	CHMP6	Charged multivesicular body protein 6	CHMP6	79643	ENSG00000176108			Chmp6 (MGI:3583942)
chr17	81035151	81117434	17q25	17q25.3	605475	BAIAP2, IRSP53	BAI1-associated protein 2	BAIAP2	10458	ENSG00000175866			Baiap2 (MGI:2137336)
chr17	81117295	81166221	17q25.3	17q25.3	605276	AATK, AATYK	Apoptosis-associated tyrosine kinase	AATK	9625	ENSG00000181409			Aatk (MGI:1197518)
chr17	81125883	81125949	17q25.3	17q25.3	614059	MIR338, MIRN338	Micro RNA 338	MIR338	442906	ENSG00000283604			Mir338 (MGI:3619352)
chr17	81189596	81222965	17q25.3	17q25.3	613479	AZI1, ZA1, KIAA1118	5-azacytidine-induced gene 1, mouse, homolog of	CEP131	22994	ENSG00000141577			Cep131 (MGI:107440)
chr17	81239311	81241310	17q25.3	17q25.3	618461	NDUFAF8, C17orf89, MC1DN34	NADH dehydrogenase (ubiquinone) complex I, assembly factor 8	NDUFAF8	284184	ENSG00000224877		Mitochondrial complex I deficiency, nuclear type 34, 618776 (3), Autosomal recessive	Ndufaf8 (MGI:1913676)
chr17	81244811	81295307	17q25.3	17q25.3	616525	SLC38A10	Solute carrier family 38 (amino acid transporter), member 10	SLC38A10	124565	ENSG00000157637			Slc38a10 (MGI:1919305)
chr17	81395457	81466331	17q25.3	17q25.3	617646	BAHCC1, BAHD2, KIAA1447	BAH domain- and coiled-coil domain-containing protein 1	BAHCC1	57597	ENSG00000266074			Bahcc1 (MGI:2679272)
chr17	81509971	81512799	17q25.3	17q25.3	102560	ACTG1, DFNA20, DFNA26, BRWS2	Actin, gamma-1	ACTG1	71	ENSG00000184009		Deafness, autosomal dominant 20/26, 604717 (3), Autosomal dominant; Baraitser-Winter syndrome 2, 614583 (3), Autosomal dominant	Actg1 (MGI:87906)
chr17	81515062	81537130	17q25	17q25.3	607643	FSCN2, RFSN, RP30	Fascin, sea urchin, homolog of, 2	FSCN2	25794	ENSG00000186765	within 200kb of ACTG1	Retinitis pigmentosa 30, 607921 (3)	Fscn2 (MGI:2443337)
chr17	81539891	81553133	17q25.3	17q25.3	611301	C17orf70, FAAP100	Chromosome 17 open reading frame 70	FAAP100	80233	ENSG00000185504			Faap100 (MGI:1919135)
chr17	81556885	81637112	17qter	17q25.3	606590	NPL4, KIAA1499	NPL4 homolog, ubiquitin recognition factor	NPLOC4	55666	ENSG00000182446			Nploc4 (MGI:2679787)
chr17	81650459	81663127	17q25	17q25.3	180073	PDE6G, PDEG, RP57	Phosphodiesterase 6G	PDE6G	5148	ENSG00000185527		Retinitis pigmentosa 57, 613582 (3), Autosomal recessive	Pde6g (MGI:97526)
chr17	81666737	81673899	17q25.3	17q25.3	614271	CCDC137	Coiled-coil domain-containing protein 137	CCDC137	339230	ENSG00000185298			Ccdc137 (MGI:1914541)
chr17	81681165	81683797	17q25.3	17q25.3	619117	ARL16	ADP ribosylation factor-like GTPase 16	ARL16	339231	ENSG00000214087			Arl16 (MGI:1917567)
chr17	81684011	81702121	17q25	17q25.3	604375	HGS, HRS	Human growth factor-regulated tyrosine kinase substrate	HGS	9146	ENSG00000185359			Hgs (MGI:104681)
chr17	81703367	81707517	17q25-qter	17q25.3	602375	MRPL12, RPML12	Ribosomal protein, mitochondrial, L12	MRPL12	6182	ENSG00000262814	mutation identified in 1 COXPD45 family	?Combined oxidative phosphorylation deficiency 45, 618951 (3), Autosomal recessive	Mrpl12 (MGI:1926273)
chr17	81712284	81721012	17q25.3	17q25.3	606794	SLC25A10, DIC, MTDPS19	Solute carrier family 25 (mitochondrial carrier), member 10 (dicarboxylate ion carrier)	SLC25A10	1468	ENSG00000183048	mutation identified in 1 MTDPS19 patient	?Mitochondrial DNA depletion syndrome 19, 618972 (3), Autosomal recessive	Slc25a10 (MGI:1353497)
chr17	81804150	81814008	17q25	17q25.3	138033	GCGR, MVAH	Glucagon receptor	GCGR	2642	ENSG00000215644		Mahvash disease, 619290 (3), Autosomal recessive	Gcgr (MGI:99572)
chr17	81822361	81833291	17q25.3	17q25.3	616514	FAM195B, MCRIP1	Family with sequence similarity 194, member B	MCRIP1	348262	ENSG00000225663			Mcrip1 (MGI:2384752)
chr17	81843166	81860535	17q25	17q25.3	176790	P4HB, PROHB, CLCRP1	Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta polypeptide	P4HB	5034	ENSG00000185624		Cole-Carpenter syndrome 1, 112240 (3), Autosomal dominant	P4hb (MGI:97464)
chr17	81867721	81871337	17q25.3	17q25.3	601925	ARHGDIA, GDIA1, NPHS8	Rho GDP dissociation inhibitor (GDI) alpha	ARHGDIA	396	ENSG00000141522		Nephrotic syndrome, type 8, 615244 (3), Autosomal recessive	Arhgdia (MGI:2178103)
chr17	81887835	81891587	17q25.3	17q25.3	604171	ALYREF, THOC4, ALY, BEF	ALY/REF export factor	ALYREF	10189	ENSG00000183684			Alyref,Alyref2,Alyreffm1,Alyreffm10,Alyreffm11,Alyreffm3,Alyreffm4,Alyreffm5,Alyreffm6,Alyreffm7,Alyreffm8,Alyreffm9 (MGI:1341044,MGI:1913144,MGI:1918238,MGI:3649020,MGI:3782481,MGI:3782482,MGI:3782483,MGI:3782485,MGI:3782487,MGI:3782493,MGI:3782524,MGI:5434648)
chr17	81890790	81900533	17q25.3	17q25.3	614534	ANAPC11, APC11	Anaphase-promoting complex subunit 11	ANAPC11	51529	ENSG00000141552			Anapc11 (MGI:1913406)
chr17	81900958	81911399	17q25.3	17q25.3	602679	PCYT2, ET, SPG82	Phosphate cytidylyltransferase 2, ethanolamine	PCYT2	5833	ENSG00000185813		Spastic paraplegia 82, autosomal recessive, 618770 (3), Autosomal recessive	Pcyt2 (MGI:1915921)
chr17	81902238	81902905	17q25.3	17q25.3	607996	NPB, PPL7	Neuropeptide B	NPB	256933	ENSG00000183979			Npb (MGI:2387153)
chr17	81911939	81918176	17q25.3	17q25.3	606212	SIRT7, SIR2L7	Sirtuin 7	SIRT7	51547	ENSG00000187531			Sirt7 (MGI:2385849)
chr17	81918270	81931244	17q25	17q25.3	602020	MAFG	MAF bZIP transcription factor G	MAFG	4097	ENSG00000197063			Mafg (MGI:96911)
chr17	81932391	81937300	17q25.3	17q25.3	179035	PYCR1, PRO3, ARCL2B, ARCL3B	Pyrroline-5-carboxylate reductase-1	PYCR1	5831	ENSG00000183010		Cutis laxa, autosomal recessive, type IIIB, 614438 (3), Autosomal recessive; Cutis laxa, autosomal recessive, type IIB, 612940 (3), Autosomal recessive	Pycr1 (MGI:2384795)
chr17	81952507	81961187	17q25.3	17q25.3	609847	NOTUM	Notum, palmitoleoyl-protein carboxylesterase	NOTUM	147111	ENSG00000185269			Notum (MGI:1924833)
chr17	81977629	82017406	17q25	17q25.3	606236	ASPSCR1, RCC17, ASPL, ASPS	Alveolar soft-part sarcoma chromosome region, candidate 1	ASPSCR1	79058	ENSG00000169696	t(X;17)(p11.2;q25)	Alveolar soft-part sarcoma, 606243 (3)	Aspscr1 (MGI:1916188)
chr17	82018703	82022878	17q25.3	17q25.3	615128	CENPX, STRA13, CENPX, FAAP10, MHF2, D9	Centromeric protein X	CENPX	201254	ENSG00000169689			Cenpx (MGI:894324)
chr17	82031678	82034204	17q25.3	17q25.3	602050	RAC3	Rac family small GTPase 3	RAC3	5881	ENSG00000169750		Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 (3), Autosomal dominant	Rac3 (MGI:2180784)
chr17	82035858	82037697	17q25.3	17q25.3	608347	DCXR, P34H, PNTSU	Dicarbonyl/L-xylulose reductase	DCXR	51181	ENSG00000169738		[Pentosuria], 260800 (3), Autosomal recessive	Dcxr (MGI:1915130)
chr17	82047902	82051811	17q25	17q25.3	602578	RFNG	Radical fringe	RFNG	5986	ENSG00000169733			Rfng (MGI:894275)
chr17	82050932	82057470	17q25.3	17q25.3	601934	GPS1	G protein pathway suppressor 1	GPS1	2873	ENSG00000169727			Gps1 (MGI:2384801)
chr17	82057506	82065804	17q25.3	17q25.3	621087	DUS1L	Dihydrouridine synthase 1-like protein	DUS1L	64118	ENSG00000169718			Dus1l (MGI:1915980)
chr17	82078338	82098236	17q25	17q25.3	600212	FASN	Fatty acid synthase	FASN	2194	ENSG00000169710			Fasn (MGI:95485)
chr17	82217934	82240086	17q25.3	17q25.3	603877	SLC16A3, MCT4	Solute carrier family 16 (monocarboxylic acid transporter) member 3	SLC16A3	9123	ENSG00000141526			Slc16a3 (MGI:1933438)
chr17	82239019	82273750	17q25	17q25.3	600864	CSNK1D, ASPS, FASPS2	Casein kinase-1, delta	CSNK1D	1453	ENSG00000141551		Advanced sleep-phase syndrome, familial, 2, 615224 (3), Autosomal dominant	Csnk1d (MGI:1355272)
chr17	82314873	82317608	17q25.2-q25.3	17q25.3	186820	CD7	CD7 antigen (p41)	CD7	924	ENSG00000173762			Cd7 (MGI:88344)
chr17	82321024	82333959	17q25.2-q25.3	17q25.3	602602	SECTM1, K12	Secreted and transmembrane 1	SECTM1	6398	ENSG00000141574			Sectm1a,Sectm1b (MGI:1929083,MGI:2384805)
chr17	82359247	82363775	17q25.3	17q25.3	615647	TEX19	Testis-expressed gene 19	TEX19	400629	ENSG00000182459			Tex19.1,Tex19.2 (MGI:1918206,MGI:1920929)
chr17	82371765	82377458	17q25.3	17q25.3	600896	GPR14, UTR2, UTR	G protein-coupled receptor-14 (urotensin II receptor)	UTS2R	2837	ENSG00000181408			Uts2r (MGI:2183450)
chr17	82418347	82442645	17q25.3	17q25.3	616864	HEXD	Hexosaminidase D	HEXD	284004	ENSG00000169660			Hexd (MGI:3605542)
chr17	82442586	82450752	17q25.3	17q25.3	618334	CYBC1, EROS, C17orf62, CGD5	Cytochrome b(-254) chaperone 1	CYBC1	79415	ENSG00000178927		Chronic granulomatous disease 5, autosomal recessive, 618935 (3), Autosomal recessive	Cybc1 (MGI:2384959)
chr17	82458198	82490537	17q25.3	17q25.3	605349	NARF, IOP2	Nuclear prelamin A recognition factor	NARF	26502	ENSG00000141562			Narf (MGI:1914858)
chr17	82519732	82604602	17q25	17q25.3	147685	FOXK2, ILF1	Forkhead box K2 (interleukin enhancer-binding factor 1)	FOXK2	3607	ENSG00000141568			Foxk2 (MGI:1916087)
chr17	82614562	82648444	17q25.3	17q25.3	609226	WDR45B, WIPI3, WDR45L, NEDSBAS	WD repeat domain 45B	WDR45B	56270	ENSG00000141580		Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive	Wdr45b (MGI:1914090)
chr17	82654973	82698698	17q25.3	17q25.3	619550	RAB40B	RAB40B, member Ras oncogene family	RAB40B	10966	ENSG00000141542			Rab40b (MGI:2183451)
chr17	82716706	82728013	17q25	17q25.3	611683	FN3KRP	Fructosamine 3-kinase-related protein	FN3KRP	79672	ENSG00000141560			Fn3krp (MGI:2679256)
chr17	82735615	82751196	17q25.3	17q25.3	608425	FN3K	Fructosamine 3-kinase	FN3K	64122	ENSG00000167363			Fn3k (MGI:1926834)
chr17	82752065	82945914	17q25	17q25.3	604649	TBCD, PEBAT	Tubulin-specific chaperone D	TBCD	6904	ENSG00000141556		Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive	Tbcd (MGI:1919686)
chr17	82829434	82840022	17q25.3	17q25.3	610226	ZNF750, FLJ13841, SLDPE	Zinc finger protein 750	ZNF750	79755	ENSG00000141579	mutation identified in 1 SLDPE family	?Seborrhea-like dermatitis with psoriasiform elements, 610227 (3), Autosomal dominant	Zfp750 (MGI:2442210)
chr17	82942149	83051770	17q25.3	17q25.3	615337	B3GNTL1	Beat-1,3-N-acetylglucosaminyltransferase-like 1	B3GNTL1	146712	ENSG00000175711			B3gntl1 (MGI:2441705)
chr17	83079609	83095122	17q25.3	17q25.3	616241	METRNL	Meteorin-like protein	METRNL	284207	ENSG00000176845			Metrnl (MGI:2384806)
chr17	1	83257441	Chr.17		138110	G6PDL	Glucose-6-phosphate dehydrogenase-like						
chr17	1	83257441	Chr.17		610064	ODS1	Opioid dependence, susceptibility to, 1		100188802			{Opioid dependence, susceptibility to, 1}, 610064 (2)	
chr18	1	15400000	18p11.3-p11.2		104000	AA1	Alopecia areata 1		100034700		max lod at D18S967	Alopecia areata 1, 104000 (2), Multifactorial	
chr18	1	18500001	18p		146390	DEL18p, C18DELp	Chromosome 18p deletion syndrome					Chromosome 18p deletion syndrome, 146390 (4), Autosomal dominant	
chr18	1	7200000	18p11.32-p11.31		609647	DFNB46	Deafness, neurosensory, autosomal recessive 46		449488		between D18S59 and D18S391	Deafness, autosomal recessive 46, 609647 (2), Autosomal recessive	
chr18	1	18500000	18p11		607488	DYT15	Dystonia-15, myoclonic		317714			Dystonia-15, myoclonic, 607488 (2), Autosomal dominant	
chr18	1	18500001	18p		602124	DYT7	Dystonia-7 (torsion dystonia, adult-onset, focal)		1866			Dystonia-7, torsion, 602124 (2), Autosomal dominant	
chr18	1	15400000	18pter-p11.21		131150	ERV1	Oncogene ERV1; endogenous retrovirus-1						
chr18	1	18500000	18p11		612354	IBD21	Inflammatory bowel disease 21		100192312		associated with rs2542151	{Inflammatory bowel disease 21}, 612354 (2), Autosomal dominant	
chr18	1	18500001	18p		125480	MAFD1, BPAD, MD1	Major affective disorder 1		4095		?also 18q	{Major affective disorder 1}, 125480 (2), Autosomal dominant	
chr18	1	7200000	18p11.3		614343	MRT19	Intellectual developmental disorder, autosomal recessive 19		100852395		between rs4606805 and rs1787846	Intellectual developmental disorder, autosomal recessive 19, 614343 (2), Autosomal recessive	
chr18	1	7200000	18p11.3		612353	POROK6, DSAP4	Porokeratosis 6		100196911		between telomere and D18S391	Porokeratosis 6, multiple types, 612353 (2), Autosomal dominant	
chr18	1	18500001	18p		603206	SCZD8	Schizophrenia susceptibility locus, chromosome 18-related		8806			{Schizophrenia}, 181500 (2), Autosomal dominant	
chr18	1	18500001	18p		614290	TET18P	Tetrasomy 18p					Tetrasomy 18p, 614290 (4)	
chr18	158557	214629	18p	18p11.32	607274	USP14, TGT	Ubiquitin-specific protease 14	USP14	9097	ENSG00000101557			Usp14 (MGI:1928898)
chr18	214520	268047	18p11.32	18p11.32	606930	THOC1, HPR1, DFNA86	THO complex 1 (nuclear matrix protein p84)	THOC1	9984	ENSG00000079134	mutation identified in 1 DFNA86 family	?Deafness, autosomal dominant 86, 620280 (3), Autosomal dominant	Thoc1 (MGI:1919668)
chr18	316737	500701	18p11.32	18p11.32	607621	COLEC12, SRCL, CLP1	Collectin 12	COLEC12	81035	ENSG00000158270			Colec12 (MGI:2152907)
chr18	580380	582114	18p11.32	18p11.32	603187	CETN1, CEN1	Centrin-1	CETN1	1068	ENSG00000177143			Cetn1 (MGI:1347086)
chr18	596988	650182	18p11.3	18p11.32	616990	CLUL1	Clusterin-like protein 1	CLUL1	27098	ENSG00000079101			
chr18	657653	673578	18p11.32	18p11.32	188350	TYMS, TS, TMS, DKCD	Thymidylate synthase	TYMS	7298	ENSG00000176890	DKCD is digenic with C-A-ins haplotype	Dyskeratosis congenita, digenic, 620040 (3), Digenic dominant	Tyms (MGI:98878)
chr18	662986	712630	18p11.32	18p11.32	607427	ENOSF1, RTS	Enolase superfamily member 1	ENOSF1	55556	ENSG00000132199			
chr18	721588	812753	18p11.3	18p11.32	164880	YES1	Oncogene YES-1	YES1	7525	ENSG00000176105	<50 kb from TYMS		Yes1 (MGI:99147)
chr18	904411	912172	18p11	18p11.32	102980	ADCYAP1	Adenylate cyclase activating polypeptide-1 (pituitary)	ADCYAP1	116	ENSG00000141433			Adcyap1 (MGI:105094)
chr18	2537530	2571505	18p11.32	18p11.32	619626	METTL4	Methyltransferase 4, N6-adenosine	METTL4	64863	ENSG00000101574			Mettl4 (MGI:1924031)
chr18	2571557	2616635	18p11.32	18p11.32	607272	NDC80, KNTC2, HEC	NDC80 kinetochore complex component	NDC80	10403	ENSG00000080986			Ndc80 (MGI:1914302)
chr18	2655726	2805017	18p11.32	18p11.32	614982	SMCHD1, KIAA0650, BAMS	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	SMCHD1	23347	ENSG00000101596		Facioscapulohumeral muscular dystrophy 2, digenic, 158901 (3), Digenic dominant; Bosma arhinia microphthalmia syndrome, 603457 (3), Autosomal dominant	Smchd1 (MGI:1921605)
chr18	2846232	2916003	18p11.32-p11.31	18p11.32-p11.31	608928	EMILIN2	Elastin macrofibril interfacer 2	EMILIN2	84034	ENSG00000132205			Emilin2 (MGI:2389136)
chr18	2900001	7200000	18p11.31		160700	MYP2	Myopia, high grade, autosomal dominant 1		4658			Myopia 2, 160700 (2), Autosomal dominant	
chr18	2916994	3013144	18p	18p11.31	605519	LPIN2, MJDS, CRMO1	Lipin 2	LPIN2	9663	ENSG00000101577		Majeed syndrome, 609628 (3)	Lpin2 (MGI:1891341)
chr18	3066807	3247376	18p11.31	18p11.31	603508	MYOM1, SKELEMIN	Myomesin 1	MYOM1	8736	ENSG00000101605			Myom1 (MGI:1341430)
chr18	3262133	3278461	18p11.31	18p11.31	609211	MYL12B, MRLC2	Myosin, light chain 12B, regulatory	MYL12B	103910	ENSG00000118680			Myl12a,Myl12b (MGI:107494,MGI:1914518)
chr18	3412009	3459978	18p11.3	18p11.31	602630	TGIF1, HPE4	TG-interacting factor 1	TGIF1	7050	ENSG00000177426		Holoprosencephaly 4, 142946 (3), Autosomal dominant	Tgif1 (MGI:1194497)
chr18	3496032	4455307	18p11.31	18p11.31	605445	DLGAP1, DAP1, DLGAP1A, DLGAP1B	Discs large-associated protein 1	DLGAP1	9229	ENSG00000170579			Dlgap1 (MGI:1346065)
chr18	5142911	5197691	18p11.31	18p11.31	616427	C18orf42	Chromosome 18 open reading frame 42	AKAIN1	642597	ENSG00000231824			Akain1 (MGI:2444600)
chr18	5289022	5297053	18p11.21	18p11.31	602126	ZFP161, ZF5	Zinc finger protein-161	ZBTB14	7541	ENSG00000198081			Zbtb14 (MGI:1195345)
chr18	5392386	5630663	18p11.3	18p11.31	605331	EPB41L3, DAL1	Erythrocyte membrane protein band 4.1-like 3	EPB41L3	23136	ENSG00000082397			Epb41l3 (MGI:103008)
chr18	5954717	6415259	18p11.31	18p11.31	617135	L3MBTL4	L3MBTL histone methyl-lysine-binding protein 4	L3MBTL4	91133	ENSG00000154655			L3mbtl4 (MGI:2444889)
chr18	6729716	6915716	18p11.31	18p11.31	610592	ARHGAP28, KIAA1314	RHO GTPase-activating protein 28	ARHGAP28	79822	ENSG00000088756			Arhgap28 (MGI:2147003)
chr18	6941742	7117797	18p11.31	18p11.31	150320	LAMA1, PTBHS	Laminin, alpha-1	LAMA1	284217	ENSG00000101680		Poretti-Boltshauser syndrome, 615960 (3), Autosomal recessive	Lama1 (MGI:99892)
chr18	7200001	39500000	18p11.23-q12.2		107200	ANIC	Anosmia, isolated congenital		550625		max lod at D18S1108	Anosmia, isolated congenital, 107200 (2), Autosomal dominant	
chr18	7200001	15400000	18p11.2		606616	DYX6, DYXQTL18	Dyslexia, susceptibility to, 6		266691			{Dyslexia, susceptibility to, 6}, 606616 (2)	
chr18	7200001	15400000	18p11.2		609253	FEB6	Febrile seizures, familial, 6		619397		max lod at D18S1158	Febrile seizures, familial, 6, 609253 (2), Autosomal dominant	
chr18	7200001	8500000	18p11.23		612410	PSORS10	Psoriasis susceptibility 10		503613		between D18S63 and D18S967	{Psoriasis susceptibility 10}, 612410 (2)	
chr18	7567316	8406856	18p11.2	18p11.23	176888	PTPRM, PTPRL1, RPTPM	Protein tyrosine phosphatase, receptor type, mu polypeptide	PTPRM	5797	ENSG00000173482			Ptprm (MGI:102694)
chr18	8609437	8639383	18p11.22	18p11.22	616448	RAB12	Ras-associated protein RAB12	RAB12	201475	ENSG00000206418			Rab12 (MGI:894284)
chr18	8695856	8707621	18p11.22	18p11.22	616131	GACAT2, MTCL1AS1	Gastric cancer-associated transcript 2, noncoding	GACAT2	100287082	ENSG00000265962			
chr18	8705556	8832778	18p11.22	18p11.22	615766	MTCL1, KIAA0802	Microtubule crosslinking factor 1	MTCL1	23255	ENSG00000168502			Mtcl1 (MGI:1915867)
chr18	9102699	9134341	18p11.31-p11.2	18p11.22	600532	NDUFV2, MC1DN7	NADH-ubiquinone oxidoreductase core subunit V2	NDUFV2	4729	ENSG00000178127	pseudogene on 19q13.3-qter	Mitochondrial complex I deficiency, nuclear type 7, 618229 (3), Autosomal recessive	Ndufv2 (MGI:1920150)
chr18	9136781	9285985	18p11.22	18p11.22	610616	ANKRD12, ANCO1, KIAA0874	Ankyrin repeat domain-containing protein 12	ANKRD12	23253	ENSG00000101745			Ankrd12 (MGI:1914357)
chr18	9334773	9402420	18p11.3-p11.2	18p11.22	605049	TWSG1, TSG	Twisted gastrulation BMP modulator 1	TWSG1	57045	ENSG00000128791			Twsg1 (MGI:2137520)
chr18	9475009	9538114	18p11	18p11.22	605801	RALBP1, RLIP76	RALA-binding protein 1	RALBP1	10928	ENSG00000017797			Ralbp1 (MGI:108466)
chr18	9546794	9617199	18p11.22	18p11.22	604908	PPP4R1, PP4R1	Protein phosphatase 4, regulatory subunit 1	PPP4R1	9989	ENSG00000154845			Ppp4r1 (MGI:1917601)
chr18	9708301	9862551	18p11.3	18p11.22	605694	RAB31	Ras-associated protein RAB31	RAB31	11031	ENSG00000168461			Rab31 (MGI:1914603)
chr18	9885973	9889275	18p11.22	18p11.22	617790	TXNDC2, SPTRX1	Thioredoxin domain-containing protein 2	TXNDC2	84203	ENSG00000168454			Txndc2 (MGI:2389312)
chr18	9914016	9960021	18p11.22	18p11.22	605703	VAPA, VAP33	VAMP-associated protein A	VAPA	9218	ENSG00000101558			Vapa (MGI:1353561)
chr18	10454635	10489949	18p11	18p11.22	607479	APCDD1, HHS, HYPT1, HTS	Adenomatosis polyposis coli down-regulated 1	APCDD1	147495	ENSG00000154856		Hypotrichosis 1, 605389 (3), Autosomal dominant	Apcdd1 (MGI:3513977)
chr18	10526027	10552764	18p11.22	18p11.22	603216	NAPG	NSF attachment protein, gamma	NAPG	8774	ENSG00000134265			Napg (MGI:104561)
chr18	10670247	11149569	18p11.22	18p11.22-p11.21	613629	PIEZO2, FAM38B, DA5, DA3, MWKS, DAIPT	PIEZO-type mechanosensitive ion channel component 2	PIEZO2	63895	ENSG00000154864	mutation identified in 1 MWKS patient	Arthrogryposis, distal, type 5, 108145 (3), Autosomal dominant; Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive; Arthrogryposis, distal, type 3, 114300 (3), Autosomal dominant; ?Marden-Walker syndrome, 248700 (3), Autosomal dominant	Piezo2 (MGI:1918781)
chr18	11689264	11885685	18p11.21	18p11.21	139312	GNAL, DYT25	Guanine nucleotide-binding protein, alpha-subunit, olfactory type	GNAL	2774	ENSG00000141404		Dystonia 25, 615073 (3), Autosomal dominant	Gnal (MGI:95774)
chr18	11851413	11854444	18p11	18p11.21	606486	CHMP1B, C10orf2	Charged multivesicular body protein 1B	CHMP1B	57132	ENSG00000255112			Chmp1b (MGI:1914314)
chr18	11882622	11908317	18p11.2	18p11.21	611900	MPPE1	Metallophosphoesterase 1	MPPE1	65258	ENSG00000154889			Mppe1 (MGI:2661311)
chr18	11981507	12030877	18p11.2	18p11.21	605922	IMPA2	Myo-inositol monophosphatase 2	IMPA2	3613	ENSG00000141401			Impa2 (MGI:2149728)
chr18	12254361	12277595	18p11.21	18p11.21	604440	CIDEA	Cell death-inducing DFFA-like effector A	CIDEA	1149	ENSG00000176194			Cidea (MGI:1270845)
chr18	12307669	12329826	18p11.21	18p11.21	615103	TUBB6, FPVEPD	Tubulin, beta-6	TUBB6	84617	ENSG00000176014	mutation identified in 1 FPVEPD family	?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction, 617732 (3), Autosomal dominant	Tubb6 (MGI:1915201)
chr18	12328944	12377227	18p11	18p11.21	604581	AFG3L2, SCA28, SPAX5, OPA12	AFG3-like matrix AAA peptidase, subunit 2	AFG3L2	10939	ENSG00000141385		Spastic ataxia 5, autosomal recessive, 614487 (3), Autosomal recessive; Optic atrophy 12, 618977 (3), Autosomal dominant; Spinocerebellar ataxia 28, 610246 (3), Autosomal dominant	Afg3l2 (MGI:1916847)
chr18	12407929	12432238	18p11.21	18p11.21	616545	PRELID3A, SLMO1, C18orf43	PRELI domain-containing protein 3A	PRELID3A	10650	ENSG00000141391			Prelid3a (MGI:2442865)
chr18	12446512	12662091	18p11.21	18p11.21	609216	SPIRE1, KIAA1135	Spire-type actin nucleation factor 1	SPIRE1	56907	ENSG00000134278			Spire1 (MGI:1915416)
chr18	12658738	12725740	18p11.21	18p11.21	609702	PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2, PRAAS4	Proteasome (prosome, macropain) assembly chaperone 1	PSMG2	56984	ENSG00000128789	mutation identified in 1 PRAAS4 patient	?Proteasome-associated autoinflammatory syndrome 4, 619183 (3), Autosomal recessive	Psmg2 (MGI:1922901)
chr18	12661956	12702777	18p11.21	18p11.21	620791	CEP76	Centrosomal protein, 76kD	CEP76	79959	ENSG00000101624			Cep76 (MGI:1923401)
chr18	12785478	12884237	18p11.3-p11.2	18p11.21	176887	PTPN2, PTPT	Protein tyrosine phosphatase, nonreceptor-type, 2	PTPN2	5771	ENSG00000175354			Ptpn2 (MGI:97806)
chr18	12948011	12987536	18p11.21	18p11.21	609263	SEH1L, SEH1, SEC13L	Seh1-like protein	SEH1L	81929	ENSG00000085415			Seh1l (MGI:1919374)
chr18	12991362	13125036	18p11.21	18p11.21	616426	CEP192, PPP1R62, KIAA1569	Centrosomal protein, 192kD	CEP192	55125	ENSG00000101639			Cep192 (MGI:1918049)
chr18	13217682	13652754	18p11.2	18p11.21	606571	C18orf1	Chromosome 18 open reading frame 1	LDLRAD4	753	ENSG00000168675			Ldlrad4 (MGI:1277150)
chr18	13663347	13726558	18p11.21	18p11.21	617975	FAM210A, C18orf19	Family with sequence similarity 210, member A	FAM210A	125228	ENSG00000177150			Fam210a (MGI:1914000)
chr18	13726673	13764556	18p11.23-p11.22	18p11.21	603514	RNMT, MET	RNA guanine-7-methyltransferase	RNMT	8731	ENSG00000101654			Rnmt (MGI:1915147)
chr18	13824149	13827323	18p11.2	18p11.21	600042	MC5R	Melanocortin-5 receptor	MC5R	4161	ENSG00000176136			Mc5r (MGI:99420)
chr18	13882044	13915707	18p11.2	18p11.21	607397	MC2R	Melanocortin-2 receptor (ACTH receptor)	MC2R	4158	ENSG00000185231		Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3), Autosomal recessive	Mc2r (MGI:96928)
chr18	14748172	14941135	18p11.21	18p11.21	616565	ANKRD30B	Ankyrin repeat domain-containing protein 30B	ANKRD30B	374860	ENSG00000180777			
chr18	18500001	80373285	18q		601808	DEL18q	Chromosome 18q deletion syndrome					Chromosome 18q deletion syndrome, 601808 (4), Autosomal dominant	
chr18	18500001	80373285	18q		143850	OHDS	Orthostatic hypotensive disorder of Streeten		50948			Orthostatic hypotensive disorder of Streeten, 143850 (2), Autosomal dominant	
chr18	20946906	21111813	18q11.1	18q11.1	601702	ROCK1	RHO-associated coiled-coil-containing protein kinase 1	ROCK1	6093	ENSG00000067900			Rock1 (MGI:107927)
chr18	21242232	21526112	18q11.1	18q11.1-q11.2	617782	GREB1L, C18orf6, KIAA1772, RHDA3, DFNA80	GREB1-like retinoic acid receptor coactivator	GREB1L	80000	ENSG00000141449		Deafness, autosomal dominant 80, 619274 (3), Autosomal dominant; Renal hypodysplasia/aplasia 3, 617805 (3), Autosomal dominant	Greb1l (MGI:3576497)
chr18	21500001	39500000	18q11.2-q12.2		613930	APMR3	Alopecia-intellectual disability syndrome 3		100653369		between D18S866 and D18S811	Alopecia-intellectual disability syndrome 3, 613930 (2), Autosomal recessive	
chr18	21529284	21600704	18q11.2	18q11.2	609674	ESCO1, ECO1, CTF, ESO1, EFO1, KIAA1911	Establishment of sister chromatid cohesion N-acetyltransferase 1	ESCO1	114799	ENSG00000141446			Esco1 (MGI:1925055)
chr18	21612314	21633520	18q11.2	18q11.2	601063	SNRPD1	Small nuclear ribonucleoprotein polypeptide D1	SNRPD1	6632	ENSG00000167088			Snrpd1 (MGI:98344)
chr18	21650901	21704774	18q11.1	18q11.2	612197	ABHD3, LABH3	Abhydrolase domain-containing 3, phospholipase	ABHD3	171586	ENSG00000158201			Abhd3 (MGI:2147183)
chr18	21704916	21870953	18q11.2	18q11.2	608677	MIB1, MIB, DIP1, KIAA1323, LVNC7	Mindbomb E3 ubiquitin protein ligase 1	MIB1	57534	ENSG00000101752		Left ventricular noncompaction 7, 615092 (3), Autosomal dominant	Mib1 (MGI:2443157)
chr18	21825698	21825785	18q11.2	18q11.2	610254	MIR133A1	Micro RNA 133A1	MIR133A1	406922	ENSG00000283927			Mir133a-1 (MGI:2676818)
chr18	21829004	21829088	18q11.2	18q11.2	610252	MIR1-2	Micro RNA 1-2	MIR1-2	406905	ENSG00000284453			Mir1a-2 (MGI:3618746)
chr18	22169589	22202528	18q11.1-q11.2	18q11.2	601656	GATA6, AVSD5, ASD9, PACHD	GATA-binding protein-6	GATA6	2627	ENSG00000141448		Atrial septal defect 9, 614475 (3), Autosomal dominant; Persistent truncus arteriosus, 217095 (3); Pancreatic agenesis and congenital heart defects, 600001 (3), Autosomal dominant; Atrioventricular septal defect 5, 614474 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant	Gata6 (MGI:107516)
chr18	22413599	22417915	18q11.2	18q11.2	608856	CTAGE1	Cutaneous T-cell lymphoma-associated antigen 1	CTAGE1	64693	ENSG00000212710			Mia2 (MGI:2159614)
chr18	22914139	23026486	18q11.2	18q11.2	604124	RBBP8, RIM, SCKL2, JWDS	Retinoblastoma-binding protein 8	RBBP8	5932	ENSG00000101773		Seckel syndrome 2, 606744 (3), Autosomal recessive; Jawad syndrome, 251255 (3), Autosomal recessive; Pancreatic carcinoma, somatic (3)	Rbbp8 (MGI:2442995)
chr18	23134564	23260470	18q11.2	18q11.2	609194	CABLES1	CDK5 and ABL enzyme substrate 1	CABLES1	91768	ENSG00000134508			Cables1 (MGI:1927065)
chr18	23238522	23437961	18q11.2	18q11.2	615430	TMEM241, C18orf45	Transmembrane protein 241	TMEM241	85019	ENSG00000134490			Tmem241 (MGI:2442435)
chr18	23453287	23483140	18q11.2	18q11.2	603579	RIOK3, SUDD	RIO kinase 3	RIOK3	8780	ENSG00000101782			Riok3 (MGI:1914128)
chr18	23503470	23531822	18q11.2	18q11.2	620267	RMC1, C18orf8	Regulator of MON1-CCZ1	RMC1	29919	ENSG00000141452			Rmc1 (MGI:1916528)
chr18	23506184	23586506	18q11-q12	18q11.2	607623	NPC1, NPC	NPC intracellular cholesterol transporter 1	NPC1	4864	ENSG00000141458	some families not linked to 18; type D prob. allelic	Niemann-Pick disease, type C1, 257220 (3), Autosomal recessive; Niemann-Pick disease, type D, 257220 (3), Autosomal recessive	Npc1 (MGI:1097712)
chr18	23689453	23955066	18q11.2	18q11.2	600805	LAMA3, LOCS, JEB2A, JEB2B, JEB2C	Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD; epiligrin)	LAMA3	3909	ENSG00000053747		Epidermolysis bullosa, junctional 2A, intermediate, 619783 (3), Autosomal recessive; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous, 245660 (3), Autosomal recessive; Epidermolysis bullosa, junctional 2B, severe, 619784 (3), Autosomal recessive	Lama3 (MGI:99909)
chr18	24139062	24161600	18q12.2	18q11.2	612135	CABYR, FSP2	Calcium-binding tyrosine phosphorylation-regulated protein	CABYR	26256	ENSG00000154040			Cabyr (MGI:1918382)
chr18	24162045	24397824	18q11-q12	18q11.2	606730	OSBPL1A, ORP1	Oxysterol-binding protein-like protein 1A	OSBPL1A	114876	ENSG00000141447			Osbpl1a (MGI:1927551)
chr18	24426670	24453531	18q11.2-q12.1	18q11.2	615319	IMPACT	Impact RWD domain protein	IMPACT	55364	ENSG00000154059			Impact (MGI:1098233)
chr18	24460637	24479974	18q11.2	18q11.2	606792	HRH4, HH4R	Histamine receptor H4	HRH4	59340	ENSG00000134489			Hrh4 (MGI:2429635)
chr18	25061924	25352166	18q11.2	18q11.2	610974	ZNF521, EHZF, EVI3	Zinc finger protein 521	ZNF521	25925	ENSG00000198795			Zfp521 (MGI:95459)
chr18	26016253	26091219	18q11.2	18q11.2	600192	SS18, SSXT, SYT	Synovial sarcoma translocation, chromosome 18	SS18	6760	ENSG00000141380	5' SYST/3' SSRC in t(X;18)	Sarcoma, synovial (1)	Ss18 (MGI:107708)
chr18	26133869	26193355	18q11.2	18q11.2	617841	PSMA8, PSMA7L	Proteasome subunit, alpha-type, 8	PSMA8	143471	ENSG00000154611			Psma8 (MGI:1920927)
chr18	26226445	26391685	18q11.2	18q11.2	601689	TAF4B, TAF2C2, TAFII105, SPGF13	TAF4b RNA polymerase II, TATA box-binding protein-associated factor, 105kD	TAF4B	6875	ENSG00000141384	mutation identified in 1 SPGF13 family	?Spermatogenic failure 13, 615841 (3), Autosomal recessive	Taf4b (MGI:2152345)
chr18	26454910	26657473	18q11.2	18q11.2	613420	KCTD1, SENS	Potassium channel tetramerization domain-containing 1	KCTD1	284252	ENSG00000134504		Scalp-ear-nipple syndrome, 181270 (3), Autosomal dominant	Kctd1 (MGI:1918269)
chr18	26687621	26703638	18q11.2	18q11.2	617647	PCAT18, LINC01092	Prostate cancer-associated transcript 18, noncoding	PCAT18	728606	ENSG00000265369			
chr18	26852038	26865803	18q11.2-q12.1	18q11.2	600308	AQP4, MIWC, MLC4	Aquaporin-4	AQP4	361	ENSG00000171885	mutation identified in 1 MLC4 family	?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting, 620448 (3), Autosomal recessive	Aqp4 (MGI:107387)
chr18	26906481	27185308	18q11.2	18q11.2	610191	CHST9, GalNAc4ST2	Carbohydrate sulfotransferase 9	CHST9	83539	ENSG00000154080			Chst9 (MGI:1918617)
chr18	27500001	35100000	18q12.1		610209	MGR11	Migraine with or without aura, susceptibility to, 11		117204003			{Migraine with or without aura, susceptibility to, 11}, 610209 (2), Autosomal dominant	
chr18	27500001	45900000	18q12		604754	ZNF271P, ZNFEB, ZNF271	Zinc finger protein 271, pseudogene	ZNF271P	10778	ENSG00000293516			
chr18	27932879	28177130	18q11.2	18q12.1	114020	CDH2, NCAD, ARVD14, ACOGS, ADHD8	Cadherin 2 (cadherin, neuronal type; N-cadherin)	CDH2	1000	ENSG00000170558	mutation identified in 1 ADHD8 family	Arrhythmogenic right ventricular dysplasia 14, 618920 (3), Autosomal dominant; ?Attention deficit-hyperactivity disorder 8, 619957 (3), Autosomal recessive; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, 618929 (3), Autosomal dominant	Cdh2 (MGI:88355)
chr18	30989365	31042742	18q12.1	18q12.1	600271	DSC3, DSC4	Desmocollin-3	DSC3	1825	ENSG00000134762		Hypotrichosis and recurrent skin vesicles, 613102 (3), Autosomal recessive	Dsc3 (MGI:1194993)
chr18	31058840	31102421	18q12.1	18q12.1	125645	DSC2, DSC3, ARVD11	Desmocollin-2	DSC2	1824	ENSG00000134755		Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3), Autosomal recessive, Autosomal dominant; Arrhythmogenic right ventricular dysplasia 11, 610476 (3), Autosomal recessive, Autosomal dominant	Dsc2 (MGI:103221)
chr18	31129236	31162856	18q12.1	18q12.1	125643	DSC1	Desmocollin-1	DSC1	1823	ENSG00000134765			Dsc1 (MGI:109173)
chr18	31318160	31359246	18q12.1-q12.2	18q12.1	125670	DSG1, PPKS1, SPPK1, EPKHE	Desmoglein-1	DSG1	1828	ENSG00000134760	pemphigus foliaceous antigen	Keratosis palmoplantaris striata I, AD, 148700 (3), Autosomal dominant; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3), Autosomal recessive	Dsg1a,Dsg1b,Dsg1c (MGI:2664357,MGI:2664358,MGI:94930)
chr18	31376777	31414909	18q12	18q12.1	607892	DSG4, LAH, HYPT6	Desmoglein 4	DSG4	147409	ENSG00000175065		Hypotrichosis 6, 607903 (3), Autosomal recessive	Dsg4 (MGI:2661061)
chr18	31447741	31478702	18q12.1-q12.2	18q12.1	169615	DSG3, ABOLM	Desmoglein-3 (pemphigus vulgaris antigen)	DSG3	1830	ENSG00000134757		Blistering, acantholytic, of oral and laryngeal mucosa, 619226 (3), Autosomal recessive	Dsg3 (MGI:99499)
chr18	31498177	31549008	18q12.1-q12.2	18q12.1	125671	DSG2, ARVD10, ARVC10, CMD1BB	Desmoglein-2	DSG2	1829	ENSG00000046604		Cardiomyopathy, dilated, 1BB, 612877 (3), Autosomal recessive; Arrhythmogenic right ventricular dysplasia 10, 610193 (3), Autosomal dominant	Dsg2 (MGI:1196466)
chr18	31591877	31598821	18q11.2-q12.1	18q12.1	176300	TTR, PALB	Transthyretin (prealbumin)	TTR	7276	ENSG00000118271		Amyloidosis, hereditary, transthyretin-related, 105210 (3), Autosomal dominant; Carpal tunnel syndrome, familial, 115430 (3), Autosomal dominant; [Dystransthyretinemic hyperthyroxinemia], 145680 (3), Autosomal dominant	Ttr (MGI:98865)
chr18	31622246	31724641	18q11	18q12.1	604017	B4GALT6	Beta-1,4-galactosyltransferase 6	B4GALT6	9331	ENSG00000118276			B4galt6 (MGI:1928380)
chr18	31759584	31760880	18q12.1	18q12.1	616153	SLC25A52, MCART2	Solute carrier family 25, member 52	SLC25A52	147407	ENSG00000141437			Slc25a51 (MGI:2684984)
chr18	31829197	31943128	18q12.1	18q12.1	614136	TRAPPC8, KIAA1012	Trafficking protein particle complex, subunit 8	TRAPPC8	22878	ENSG00000153339			Trappc8 (MGI:2443008)
chr18	32018825	32088144	18q12.1	18q12.1	610432	RNF125, TRAC1, TNORS	RING finger protein 125	RNF125	54941	ENSG00000101695		Tenorio syndrome, 616260 (3), Autosomal dominant	Rnf125 (MGI:1914914)
chr18	32091874	32131561	18q12.1	18q12.1	616319	RNF138, NARF	RING finger protein 138	RNF138	51444	ENSG00000134758			Rnf138,Rnf138rt1 (MGI:1921514,MGI:1929211)
chr18	32190039	32220404	18q12.2-q12.3	18q12.1	600389	MEP1B	Meprin A, beta	MEP1B	4225	ENSG00000141434			Mep1b (MGI:96964)
chr18	32263522	32470882	18q12.1	18q12.1	617998	GAREM1	GRB2-associated regulator of MAPK1, subtype 1	GAREM1	64762	ENSG00000141441			Garem1 (MGI:2685790)
chr18	32672673	32773023	18q12.1	18q12.1	613772	KLHL14, PRINTOR, KIAA1384	Kelch-like 14	KLHL14	57565	ENSG00000197705			Klhl14 (MGI:1921249)
chr18	33578219	33751195	18q12.1	18q12.1	615115	ASXL3, KIAA1713, BRPS	ASXL transcriptional regulator 3	ASXL3	80816	ENSG00000141431		Bainbridge-Ropers syndrome, 615485 (3), Autosomal dominant	Asxl3 (MGI:2685175)
chr18	33851100	34224913	18q12.1	18q12.1	603577	NOL4, NOLP	Nucleolar protein 4	NOL4	8715	ENSG00000101746			Nol4 (MGI:2441684)
chr18	34493312	34891844	18q12.1-q12.2	18q12.1	601239	DTNA, D18S892E, DRP3, LVNC1, MMCKR2	Dystobrevin, alpha (dystrophin-related protein 3)	DTNA	1837	ENSG00000134769		Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3), Autosomal dominant; Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2, 620971 (3), Autosomal dominant	Dtna (MGI:106039)
chr18	34977027	35143470	18q12	18q12.1-q12.2	605789	MAPRE2, EB2, RP1, CSCSC2	Microtubule-associated protein, RP/EB family, member 2	MAPRE2	10982	ENSG00000166974		Symmetric circumferential skin creases, congenital, 2, 616734 (3), Autosomal dominant	Mapre2 (MGI:106271)
chr18	35100001	45900000	18q12.2-q12.3		605293	OPA4	Optic atrophy 4		58156			Optic atrophy 4, 605293 (2)	
chr18	35241034	35259227	18q12	18q12.2	609601	ZNF397	Zinc finger protein-397	ZNF397	84307	ENSG00000186812			Zfp397 (MGI:1916506)
chr18	35332227	35344420	18q12	18q12.2	194534	ZNF24	Zinc finger protein-24 (KOX17)	ZNF24	7572	ENSG00000172466			Zfp24 (MGI:1929704)
chr18	35366694	35377337	18q12	18q12.2	609600	ZNF396	Zinc finger protein-396	ZNF396	252884	ENSG00000186496			
chr18	35580922	35711834	18q12.1	18q12.2	602273	GALNT1	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1	GALNT1	2589	ENSG00000141429			Galnt1 (MGI:894693)
chr18	35904818	35904926	18q12.2	18q12.2	612698	MIR187, MIRN187	Micro RNA 187	MIR187	406963	ENSG00000207797			Mir187 (MGI:2676851)
chr18	35989824	36067559	18q12	18q12.2	610347	RPRD1A, P15RS, FLJ10656	Regulation of nuclear pre-mRNA domain-containing protein 1A	RPRD1A	55197	ENSG00000141425			Rprd1a (MGI:2385066)
chr18	36108531	36129340	18q12.2	18q12.2	608731	SLC39A6, LIV1, ZIP6	Solute carrier family 39 (zinc transporter), member 6	SLC39A6	25800	ENSG00000141424			Slc39a6 (MGI:2147279)
chr18	36129899	36180557	18q12.2	18q12.2	616054	ELP2, STATIP1, MRT58	Elongator acetyltransferase complex, subunit 2	ELP2	55250	ENSG00000134759		Intellectual developmental disorder, autosomal recessive 58, 617270 (3), Autosomal recessive	Elp2 (MGI:1889642)
chr18	36187497	36272157	18q12.2	18q12.2	613274	MOCOS, MCS, XAN2	Molybdenum cofactor sulfurase	MOCOS	55034	ENSG00000075643		Xanthinuria, type II, 603592 (3), Autosomal recessive	Mocos (MGI:1915841)
chr18	36297713	36780220	18q12.2	18q12.2	609691	FHOD3, FHOS2, KIAA1695, CMH28	Formin homology-2 domain-containing protein 3	FHOD3	80206	ENSG00000134775		Cardiomyopathy, familial hypertrophic, 28, 619402 (3), Autosomal dominant	Fhod3 (MGI:1925847)
chr18	36780024	36829002	18q12.2	18q12.2	620710	TPGS2, PGS2	Tubulin polyglutamylase complex, subunit 2	TPGS2	25941	ENSG00000134779			Tpgs2 (MGI:1913898)
chr18	36829127	37232172	18q12.2	18q12.2	616480	KIAA1328, HINDERIN	Hinderin	KIAA1328	57536	ENSG00000150477			AW554918 (MGI:2147376)
chr18	37242844	37565798	18q12	18q12.2	612679	CELF4, BRUNOL4	CUGbp- and ELAV-like family, member 4	CELF4	56853	ENSG00000101489			Celf4 (MGI:1932407)
chr18	39500001	45900000	18q12.3		614319	VUR6	Vesicoureteral reflux 6		100820763		closest marker rs1054986	Vesicoureteral reflux 6, 614319 (2)	
chr18	41955234	42087830	18q12.3	18q12.3	602609	PIK3C3	Phosphatidylinositol 3-kinase, class 3	PIK3C3	5289	ENSG00000078142			Pik3c3 (MGI:2445019)
chr18	42743227	43115685	18q12.3	18q12.3	609592	RIT2, RIN, ROC2	Ric-like protein without CAAX motif 2	RIT2	6014	ENSG00000152214			Rit2 (MGI:108054)
chr18	43267892	43277490	18q12.3	18q12.3	600103	SYT4	Synaptotagmin-4	SYT4	6860	ENSG00000132872			Syt4 (MGI:101759)
chr18	44680073	45068510	18q12.31	18q12.3	611060	SETBP1, KIAA0437, SEB, MRD29	SET-binding protein 1	SETBP1	26040	ENSG00000152217	fused with NUP98 in ALL	Schinzel-Giedion midface retraction syndrome, 269150 (3), Autosomal dominant; Intellectual developmental disorder, autosomal dominant 29, 616078 (3), Autosomal dominant	Setbp1 (MGI:1933199)
chr18	45167963	45683688	18q12.1-q21.1	18q12.3	601611	SLC14A2, UT2, UTR	Solute carrier family 14 (urea transporter), member 2	SLC14A2	8170	ENSG00000132874			Slc14a2 (MGI:1351653)
chr18	45724181	45752520	18q11-q12	18q12.3	613868	SLC14A1, JK, UTE, UT1	Solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	SLC14A1	6563	ENSG00000141469	previous suggestion of chr.7 or chr.2	[Blood group, Kidd], 111000 (3)	Slc14a1 (MGI:1351654)
chr18	45800581	45967329	18q12.3-q21.1	18q12.3-q21.1	615068	EPG5, KIAA1632, HEEW1, VICIS	Ectopic P-granules autophagy protein 5 homolog	EPG5	57724	ENSG00000152223		Vici syndrome, 242840 (3), Autosomal recessive	Epg5 (MGI:1918673)
chr18	45825675	45844094	18q12.3	18q12.3	618105	SIGLEC15	Sialic acid-binding immunoglobulin-like lectin 15	SIGLEC15	284266	ENSG00000197046			Siglec15 (MGI:3646642)
chr18	45900001	63900000	18q21		606640	ALS3	Amyotrophic lateral sclerosis 3		253			Amyotrophic lateral sclerosis 3, 606640 (2), Autosomal dominant	
chr18	45900001	63900000	18q21.1-q21.3		600624	CORD1, CRD1	Cone rod dystrophy 1, autosomal dominant		1319			Cone-rod retinal dystrophy-1, 600624 (2), Autosomal dominant	
chr18	45900001	63900000	18q21		601941	IDDM6	Insulin-dependent diabetes mellitus-6		3405			{Diabetes mellitus, insulin-dependent, 6}, 601941 (2)	
chr18	45900001	63900000	18q21		182090	SSAV1	Simian sarcoma-associated virus-1/Gibbon ape leukemia virus		6739				
chr18	45983536	46072260	18q21.1	18q21.1	616046	PSTPIP2, MAYP	Proline/serine/threonine phosphatase-interacting protein 2	PSTPIP2	9050	ENSG00000152229			Pstpip2 (MGI:1335088)
chr18	46080248	46104227	18q21.1	18q21.1	164360	ATP5F1A, ATP5A1, ATPM, ATP5A, ORM, MC5DN4B, COXPD22, MC5DN4A	ATP synthase F1, alpha subunit	ATP5F1A	498	ENSG00000152234	pseudogenes on chr. 2, chr. 9, and chr.16; mutation identified in 1 MC5DN4 family and 1 COXPD22 family	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A, 620358 (3), Autosomal dominant; ?Combined oxidative phosphorylation deficiency 22, 616045 (3), Autosomal recessive; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type, 615228 (3), Autosomal recessive	Atp5f1a (MGI:88115)
chr18	46104385	46128333	18q21.1	18q21.1	608775	HAUS1, CCDC5, HEIC	HAUS augmin-like complex, subunit 1	HAUS1	115106	ENSG00000152240	pseudogenes on 5, 8, and X		Haus1 (MGI:2385076)
chr18	46476961	46657220	18q12-q21	18q21.1	613072	LOXHD1, DFNB77	Lipoxygenase homology domains-containing 1	LOXHD1	125336	ENSG00000167210		Deafness, autosomal recessive 77, 613079 (3), Autosomal recessive	Loxhd1 (MGI:1914609)
chr18	46667821	46757053	18q21.1	18q21.1	607162	SIAT8E	Sialyltransferase 8E	ST8SIA5	29906	ENSG00000101638			St8sia5 (MGI:109243)
chr18	46803218	46920145	18q21.1	18q21.1	603567	PIAS2, PIASX	Protein inhibitor of activated STAT2	PIAS2	9063	ENSG00000078043			Pias2 (MGI:1096566)
chr18	46917594	47102243	18q21.1	18q21.1	614697	KATNAL2	Katanin, p60 subunit, A-like protein 2	KATNAL2	83473	ENSG00000167216			Katnal2 (MGI:1924234)
chr18	47032527	47035621	18q21.1	18q21.1	609522	ELOA2, TCEB3B	Elongin A2	ELOA2	51224	ENSG00000206181			Eloa (MGI:1351315)
chr18	47152834	47176364	18q21.1	18q21.1	609382	IER3IP1, MEDS	Immediate-early response 3-interacting protein 1	IER3IP1	51124	ENSG00000134049		Microcephaly, epilepsy, and diabetes syndrome, 614231 (3), Autosomal recessive	Ier3ip1 (MGI:1913441)
chr18	47206169	47251660	18q21.1	18q21.1	617138	SKOR2, FUSSEL18, CORL2	SKI family transcriptional corepressor 2	SKOR2	652991	ENSG00000215474			Skor2 (MGI:3645984)
chr18	47808957	47930872	18q21	18q21.1	601366	SMAD2, MADH2, JV18, LDS6, CHTD8	SMAD family member 2	SMAD2	4087	ENSG00000175387		Loeys-Dietz syndrome 6, 619656 (3), Autosomal dominant; Congenital heart defects, multiple types, 8, with or without heterotaxy, 619657 (3), Autosomal dominant	Smad2 (MGI:108051)
chr18	48026672	48412585	18q21	18q21.1	616591	ZBTB7C, APM1	Zinc finger- and BTB domain-containing protein 7C	ZBTB7C	201501	ENSG00000184828			Zbtb7c (MGI:2443302)
chr18	48539031	48863217	18q21.1	18q21.1	613178	CTIF, KIAA0427	CAP-binding complex-dependent translation initiation factor	CTIF	9811	ENSG00000134030			Ctif (MGI:2685518)
chr18	48919853	48950965	18q21.1	18q21.1	602932	SMAD7, MADH7, CRCS3	SMAD family member 7	SMAD7	4092	ENSG00000101665		{Colorectal cancer, susceptibility to, 3}, 612229 (3)	Smad7 (MGI:1100518)
chr18	49036387	49460645	18q12-q21.1	18q21.1	607461	DYM, FLJ90130, DMC, SMC	Dymeclin	DYM	54808	ENSG00000141627		Smith-McCort dysplasia, 607326 (3), Autosomal recessive; Dyggve-Melchior-Clausen disease, 223800 (3), Autosomal recessive	Dym (MGI:1918480)
chr18	49477243	49487234	18q21.1	18q21.1	619979	C18orf32, GPIBD25	Chromosome 18 open reading frame 32	C18orf32	497661	ENSG00000177576	mutation identified in 1 GPIBD25 patient	?Glycosylphosphatidylinositol biosynthesis defect 25, 619985 (3), Autosomal recessive	BC031181 (MGI:3039614)
chr18	49488481	49492465	18q	18q21.1	603661	RPL17	Ribosomal protein L17	RPL17	6139	ENSG00000265681			Rpl17,Rpl17-ps8 (MGI:2448270,MGI:3802129)
chr18	49561479	49599185	18q21.1	18q21.1	603684	LIPG, EL, EDL	Lipase G, endothelial	LIPG	9388	ENSG00000101670			Lipg (MGI:1341803)
chr18	49782164	49813533	18q21.1	18q21.1	604770	ACAA2	Acetyl-CoA acyltransferase 2	ACAA2	10449	ENSG00000167315			Acaa2 (MGI:1098623)
chr18	49814023	49814443	18q21.1	18q21.1	615645	SCARNA17	Small Cajal body-specific RNA 17	SCARNA17	677769	ENSG00000267322			
chr18	49822789	50195147	18q21	18q21.1	606540	MYO5B, KIAA1119, DIAR2, MVID1, PFIC10	Myosin VB	MYO5B	4645	ENSG00000167306		Diarrhea 2, with microvillus atrophy, with or without cholestasis, 251850 (3), Autosomal recessive; Cholestasis, progressive familial intrahepatic, 10, 619868 (3), Autosomal recessive	Myo5b (MGI:106598)
chr18	50227193	50266495	18q21.1	18q21.1	614759	CFAP53, CCDC11, HTX6	Cilia- and flagella-associated protein 53	CFAP53	220136	ENSG00000172361		Heterotaxy, visceral, 6, autosomal recessive, 614779 (3), Autosomal recessive	Cfap53 (MGI:1921703)
chr18	50266885	50281767	18q21.1	18q21.1	156535	MBD1, PCM1	Methyl=CpG binding domain protein 1 (protein containing methyl-CpG binding domain 1)	MBD1	4152	ENSG00000141644			Mbd1 (MGI:1333811)
chr18	50282347	50287692	18q21.1	18q21.1	609150	CXXC1, CGBP, PCCX1	CXXC finger protein 1	CXXC1	30827	ENSG00000154832			Cxxc1 (MGI:1921572)
chr18	50375046	50394168	18q21.1	18q21.1	616673	SKA1, C18orf24	Spindle- and kinetochore-associated complex, subunit 1	SKA1	220134	ENSG00000154839			Ska1 (MGI:1913718)
chr18	50559612	50731826	18q12-q21	18q21.1-q21.2	176949	MAPK4, PRKM4, ERK3	Mitogen-activated protein kinase 4	MAPK4	5596	ENSG00000141639			Mapk4 (MGI:2444559)
chr18	50700001	56200000	18q21.2		611014	HYT8	Hypertension, essential, susceptibility to, 8		100188321		associated with rs1941958 and rs1893379	{Hypertension, essential, susceptibility to, 8}, 611014 (2)	
chr18	50795130	50825380	18q21	18q21.2	608080	MRO, B29	Maestro	MRO	83876	ENSG00000134042			Mro (MGI:2152817)
chr18	50879118	50954257	18q21	18q21.2	154270	ME2	Malic enzyme, mitochondrial	ME2	4200	ENSG00000082212	10cM distal to F13A; previously mapped to chr.6		Me2 (MGI:2147351)
chr18	50968040	50988121	18q21	18q21.2	608079	ELAC1, D29	elaC ribonuclease Z 1	ELAC1	55520	ENSG00000141642			Elac1 (MGI:1890495)
chr18	51030213	51085042	18q21.1	18q21.2	600993	SMAD4, MADH4, DPC4, JIP, MYHRS	SMAD family member 4	SMAD4	4089	ENSG00000141646		Pancreatic cancer, somatic, 260350 (3); Myhre syndrome, 139210 (3), Autosomal dominant; Polyposis, juvenile intestinal, 174900 (3), Autosomal dominant; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3), Autosomal dominant	Smad4 (MGI:894293)
chr18	51174550	51197681	18q21.2	18q21.2	611005	MEX3C, RKHD2	Mex-3, C. elegans, homolog of, C	MEX3C	51320	ENSG00000176624			Mex3c (MGI:2652843)
chr18	52340197	53535899	18q21.3	18q21.2	120470	DCC, MRMV1, HGPPS2	Deleted in colorectal carcinoma	DCC	1630	ENSG00000187323		Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3), Autosomal dominant; Esophageal carcinoma, somatic, 133239 (3); Colorectal cancer, somatic, 114500 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3), Autosomal recessive	Dcc (MGI:94869)
chr18	54151606	54224669	18q21	18q21.2	603547	MBD2	Methyl-CpG-binding domain protein 2	MBD2	8932	ENSG00000134046			Mbd2 (MGI:1333813)
chr18	54269479	54321266	18q21.1	18q21.2	605252	POLI, RAD30B	Polymerase, DNA, iota	POLI	11201	ENSG00000101751			Poli (MGI:1347081)
chr18	54324492	54357858	18q21	18q21.2	607051	STARD6	Start domain-containing protein 6	STARD6	147323	ENSG00000174448			Stard6 (MGI:2156774)
chr18	54357906	54382035	18q21	18q21.2	613258	C18orf54, LAS2	Chromosome 18 open reading frame 54	C18orf54	162681	ENSG00000166845			4930503L19Rik (MGI:1922045)
chr18	54575621	54599493	18q21.2	18q21.2	619421	DYNAP, C18orf26	Dynactin-associated protein	DYNAP	284254	ENSG00000178690			Dynap,Dynapl1 (MGI:1922827,MGI:5595414)
chr18	54717857	54895516	18q21.2	18q21.2	603869	RAB27B	RAS-associated protein RAB27B	RAB27B	5874	ENSG00000041353			Rab27b (MGI:1931295)
chr18	54901509	54959461	18q21.2	18q21.2	616909	CCDC68	Coiled-coil domain-containing protein 68	CCDC68	80323	ENSG00000166510			Ccdc68 (MGI:3612676)
chr18	55222185	55635957	18q21.2	18q21.2	602272	TCF4, SEF2, ITF2, PTHS, FECD3	Transcription factor-4 (immunoglobulin transcription factor-2)	TCF4	6925	ENSG00000196628		Pitt-Hopkins syndrome, 610954 (3), Autosomal dominant; Corneal dystrophy, Fuchs endothelial, 3, 613267 (3), Autosomal dominant	Tcf4 (MGI:98506)
chr18	56200001	63900000	18q21.3		212200	CNSN	Carnosinemia (carnosinase)		8173			Carnosinemia, 212200 (2), Autosomal recessive	
chr18	56597209	56638592	18q21.31	18q21.31	603049	TXNL1, TXNL	Thioredoxin-like 1	TXNL1	9352	ENSG00000091164			Txnl1 (MGI:1860078)
chr18	56651359	57036606	18q21.3	18q21.31	613473	WDR7, TRAG, KIAA0541	WD repeat-containing protein 7	WDR7	23335	ENSG00000091157			Wdr7 (MGI:1860197)
chr18	57054559	57072119	18q21.2	18q21.31	615173	LINC-ROR	Long intergenic noncoding RNA, regulator of reprogramming	LINC-ROR	100885779	ENSG00000258609			
chr18	57352557	57368931	18q21.31	18q21.31	609478	ST8SIA3	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	ST8SIA3	51046	ENSG00000177511			St8sia3 (MGI:106019)
chr18	57435374	57491298	18q21.1-q21.2	18q21.31	604894	ONECUT2, OC2	One cut domain, family member 2	ONECUT2	9480	ENSG00000119547			Onecut2 (MGI:1891408)
chr18	57544377	57586702	18q21.3	18q21.31	612386	FECH, FCE, EPP1	Ferrochelatase	FECH	2235	ENSG00000066926		Protoporphyria, erythropoietic, 1, 177000 (3), Autosomal recessive	Fech (MGI:95513)
chr18	57600656	57621836	18q21.1-q21.3	18q21.31	108410	NARS1, NARS, ASNRS, NEDMILG, NEDMILEG	Asparaginyl-tRNA synthetase 1	NARS1	4677	ENSG00000134440		Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, 619092 (3), Autosomal dominant; Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, 619091 (3), Autosomal recessive	Nars1 (MGI:1917473)
chr18	57646426	57803315	18q21	18q21.31	602397	ATP8B1, FIC1, BRIC, PFIC1, ICP1	ATPase, class I, type 8B, member 1	ATP8B1	5205	ENSG00000081923		Cholestasis, progressive familial intrahepatic 1, 211600 (3), Autosomal recessive; Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3), Autosomal dominant; Cholestasis, benign recurrent intrahepatic, 243300 (3), Autosomal recessive	Atp8b1 (MGI:1859665)
chr18	58044226	58401540	18q21	18q21.31	606384	NEDD4L, KIAA0439, RSP5, PVNH7	Ubiquitin protein ligase NEDD4-like	NEDD4L	23327	ENSG00000049759		Periventricular nodular heterotopia 7, 617201 (3), Autosomal dominant	Nedd4l (MGI:1933754)
chr18	58451074	58451158	18q21	18q21.31	609582	MIR122A, MIRN122A	Micro RNA 122A	MIR122	406906	ENSG00000284440			Mir122 (MGI:2676805)
chr18	58481247	58629091	18q21.31-q21.32	18q21.31-q21.32	619965	ALPK2, HAK	Alpha kinase 2	ALPK2	115701	ENSG00000198796			Alpk2 (MGI:2449492)
chr18	58671465	58754477	18q21	18q21.32	604860	MALT1, MLT, IMD12	MALT1 paracaspase	MALT1	10892	ENSG00000172175	fused with API2 in MALT lymphoma	Immunodeficiency 12, 615468 (3), Autosomal recessive	Malt1 (MGI:2445027)
chr18	58862924	58986480	18q21.32	18q21.32	619066	ZNF532	Zinc finger protein 532	ZNF532	55205	ENSG00000074657			Zfp532 (MGI:3036282)
chr18	59219189	59230771	18q21	18q21.32	137260	GRP	Gastrin-releasing peptide	GRP	2922	ENSG00000134443	mammalian equivalent of bombesin		Grp (MGI:95833)
chr18	59267038	59273454	18q21.3	18q21.32	601881	RAX, RX, MCOPS16	Retina and anterior neural fold homeobox gene	RAX	30062	ENSG00000134438		Microphthalmia, syndromic 16, 611038 (3), Autosomal recessive	Rax (MGI:109632)
chr18	59295402	59318649	18q21.32	18q21.32	609586	CPLX4	Complexin 4	CPLX4	339302	ENSG00000166569			Cplx4 (MGI:2685803)
chr18	59327823	59359265	18q21.3-q22	18q21.32	601567	LMAN1, ERGIC53, F5F8D, MCFD1	Lectin, mannose-binding 1	LMAN1	3998	ENSG00000074695		Combined factor V and VIII deficiency, 227300 (3), Autosomal recessive	Lman1 (MGI:1917611)
chr18	59430939	59697721	18q21.32	18q21.32	612753	CCBE1, KIAA1983, HKLLS1	Collagen and calcium-binding EGF domain-containing protein 1	CCBE1	147372	ENSG00000183287		Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3), Autosomal recessive	Ccbe1 (MGI:2445053)
chr18	59899996	59904305	18q21.32	18q21.32	604959	PMAIP1, APR, NOXA	Phorbol-12-myristate-13-acetate-induced protein 1	PMAIP1	5366	ENSG00000141682			Pmaip1 (MGI:1930146)
chr18	60371062	60372775	18q22	18q21.32	155541	MC4R, BMIQ20	Melanocortin-4 receptor	MC4R	4160	ENSG00000166603		Obesity (BMIQ20), 618406 (3), Autosomal recessive, Autosomal dominant; {Obesity, resistance to (BMIQ20)}, 618406 (3), Autosomal recessive, Autosomal dominant	Mc4r (MGI:99457)
chr18	61333430	61555779	18q22-q23	18q21.33	605807	CDH20	Cadherin 20	CDH20	28316	ENSG00000101542			Cdh20 (MGI:1346069)
chr18	61808067	61894412	18q21.33	18q21.33	616512	RNF152	RING finger protein 152	RNF152	220441	ENSG00000176641			Rnf152 (MGI:2443787)
chr18	62017615	62187056	18q21.33	18q21.33	606097	PIGN, MCAHS1	Phosphatidylinositol glycan, class N	PIGN	23556	ENSG00000197563		Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3), Autosomal recessive	Pign (MGI:1351629)
chr18	62187255	62310249	18q21.33	18q21.33	618001	RELCH, KIAA1468	RAB11 effector containing LIS1 homology domain, coiled-coil domains, and HEAT repeats	RELCH	57614	ENSG00000134444			Relch (MGI:1922832)
chr18	62325310	62391288	18q22.1	18q21.33	603499	TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2	Tumor necrosis factor receptor superfamily, member 11A	TNFRSF11A	8792	ENSG00000141655		Osteopetrosis, autosomal recessive 7, 612301 (3), Autosomal recessive; {Paget disease of bone 2, early-onset}, 602080 (3), Autosomal dominant; Osteolysis, familial expansile, 174810 (3), Autosomal dominant	Tnfrsf11a (MGI:1314891)
chr18	62523025	62586729	18q21.33	18q21.33	620095	ZCCHC2, KIAA1744	Zinc finger CCHC domain-containing protein 2	ZCCHC2	54877	ENSG00000141664			Zcchc2 (MGI:2444114)
chr18	62715541	62980433	18q21.33	18q21.33	609396	PHLPP1, SCOP, KIAA0606	PH domain and leucine-rich repeat protein phosphatase	PHLPP1	23239	ENSG00000081913			Phlpp1 (MGI:2138327)
chr18	63123346	63320090	18q21.3	18q21.33	151430	BCL2	B-cell CLL/lymphoma-2	BCL2	596	ENSG00000171791	most frequent hematologic malignancy t(14;18)(q32;q21)	Leukemia/lymphoma, B-cell, 2 (3)	Bcl2 (MGI:88138)
chr18	63327726	63367206	18q21.3	18q21.33	136440	KDSR, FVT1, EKVP4	3-ketodihydrosphingosine reductase	KDSR	2531	ENSG00000119537	~10kb 5' to BCL2	Erythrokeratodermia variabilis et progressiva 4, 617526 (3), Autosomal recessive	Kdsr (MGI:1918000)
chr18	63389190	63422476	18q21.3	18q21.33	609983	VPS4B, SKD1	Vacuolar protein sorting 4 homolog B	VPS4B	9525	ENSG00000119541			Vps4b (MGI:1100499)
chr18	63476958	63505085	18q21.3	18q21.33	154790	PI5, SERPINB5	Protease inhibitor 5 (maspin)	SERPINB5	5268	ENSG00000206075	in cluster of serpins		Serpinb5 (MGI:109579)
chr18	63519110	63569329	18q21.3	18q21.33	615662	SERPINB12	Serpin peptidase inhibitor, clade (ovalbumin), member 12	SERPINB12	89777	ENSG00000166634			Serpinb12 (MGI:1919119)
chr18	63587343	63599192	18q21.3	18q21.33	604445	SERPINB13, PI13, HURPIN	Protease inhibitor 13	SERPINB13	5275	ENSG00000197641			Serpinb13 (MGI:3042250)
chr18	63637259	63644256	18q21.3	18q21.33	600518	SERPINB4, SCCA2	Serpin peptidase inhibitor, clade B (ovalbumin), member 4 (squamous cell carcinoma antigen 2)	SERPINB4	6318	ENSG00000206073			Serpinb3a,Serpinb3b,Serpinb3c,Serpinb3d (MGI:1277952,MGI:2683293,MGI:2683295,MGI:3573933)
chr18	63655197	63661893	18q21.3	18q21.33	600517	SERPINB3, SCCA1	Serpin peptidase inhibitor, clade B (ovalbumin), member 3 (squamous cell carcinoma antigen 1)	SERPINB3	6317	ENSG00000057149			Serpinb3a,Serpinb3b,Serpinb3c,Serpinb3d (MGI:1277952,MGI:2683293,MGI:2683295,MGI:3573933)
chr18	63702304	63723893	18q21.3	18q21.33	615682	SERPINB11	Serpin peptidase inhibitor, clade B (ovalbumin), member 11	SERPINB11	89778	ENSG00000206072			Serpinb11 (MGI:1914207)
chr18	63753057	63805370	18q21.3	18q21.33	603357	SERPINB7, MEGSIN, PPKN	Serpin peptidase inhibitor, clade B (ovalbumin), member 7	SERPINB7	8710	ENSG00000166396		Palmoplantar keratoderma, Nagashima type, 615598 (3), Autosomal recessive	Serpinb7 (MGI:2151053)
chr18	63887705	63903888	18q21.3	18q21.33-q22.1	173390	SERPINB2, PAI2, PLANH2	Serpin peptidase inhibitor, clade B (ovalbumin), member 2 (Plasminogen activator inhibitor, type II (arginine-serpin))	SERPINB2	5055	ENSG00000197632	600kb telomeric to BCL2		Serpinb2 (MGI:97609)
chr18	63900001	75400000	18q22		609334	DUP18pDEL18q, DUP18qDEL18p	Chromosome 18 pericentric inversion					Chromosome 18 pericentric inversion, 609334 (4)	
chr18	63900001	75400000	18q22.1-q22.3		602401	ECTD8	Ectodermal dysplasia 8, hair/tooth/nail type		101101768		between D18S857 and D18S815	Ectodermal dysplasia 8, hair/tooth/nail type, 602401 (2), Autosomal recessive	
chr18	63907958	63936111	18q21.3	18q22.1	602058	SERPINB10, PI10	Protease inhibitor 10, ovalbumin type (bomapin)	SERPINB10	5273	ENSG00000242550			Serpinb10 (MGI:2138648)
chr18	63949301	63969648	18q21.3	18q22.1	612086	HMSD	Minor histocompatibility antigen, serpin domain-containing	HMSD	284293	ENSG00000221887			
chr18	63970081	64019779	18q21.3	18q22.1	601697	SERPINB8, PI8, CAP2, PSS5	Serpin family B, member 8	SERPINB8	5271	ENSG00000166401		Peeling skin syndrome 5, 617115 (3), Autosomal recessive	Serpinb8 (MGI:894657)
chr18	64079995	64149088	18q22.1	18q22.1	617489	LINC00305	Long intergenic noncoding RNA 305	LINC00305	221241	ENSG00000179676			
chr18	65750252	65890337	18q22-q23	18q22.1	605806	CDH7	Cadherin-7	CDH7	1005	ENSG00000081138			Cdh7 (MGI:2442792)
chr18	66501083	66604090	18q22-q23	18q22.1	603016	CDH19, CDH7	Cadherin 19	CDH19	28513	ENSG00000071991			Cdh19 (MGI:3588198)
chr18	67506587	67516720	18q21-q22	18q22.1	611125	DSEL, C18orf4, NCAG1	Dermatan sulfate epimerase-like	DSEL	92126	ENSG00000171451			Dsel (MGI:2442948)
chr18	68673688	68715108	18q22.1	18q22.1	616102	TMX3, TXNDC10, KIAA1830	Thioredoxin-related transmembrane protein 3	TMX3	54495	ENSG00000166479			Tmx3 (MGI:2442418)
chr18	69400888	69849087	18q22.2	18q22.2	611402	DOK6	Docking protein 6	DOK6	220164	ENSG00000206052			Dok6 (MGI:3639495)
chr18	69853274	69961773	18q22.3	18q22.2	605397	DNAM1, CD226	DNAX accessory molecule 1	CD226	10666	ENSG00000150637			Cd226 (MGI:3039602)
chr18	70003031	70205687	18q22.2	18q22.2	610436	RTTN, MSSP	Rotatin	RTTN	25914	ENSG00000176225		Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3), Autosomal recessive	Rttn (MGI:2179288)
chr18	70289045	70330199	18q21.1	18q22.2	605118	SOCS6, SSI4, STAT4, CIS4	Suppressor of cytokine signaling 6	SOCS6	9306	ENSG00000170677			Socs6 (MGI:1924885)
chr18	72536681	72638521	18q22.3	18q22.3	600433	CBLN2	Cerebellin 2 precursor	CBLN2	147381	ENSG00000141668			Cbln2 (MGI:88282)
chr18	72742314	72867987	18q22-q23	18q22.3	607973	NETO1, BCTL1	Neuropilin and tolloid like 1	NETO1	81832	ENSG00000166342			Neto1 (MGI:2180216)
chr18	74073368	74147834	18q22.3	18q22.3	609093	FBXO15, FBX15	F-box only protein 15	FBXO15	201456	ENSG00000141665			Fbxo15 (MGI:1354755)
chr18	74148523	74160531	18q22.3	18q22.3	615180	TIMM21, TIM21	Translocase of inner mitochondrial membrane 21	TIMM21	29090	ENSG00000075336			Timm21 (MGI:1920595)
chr18	74250846	74291963	18q23	18q22.3	613218	CYB5A, MCB5, METAG	Cytochrome b5	CYB5A	1528	ENSG00000166347	pseudogenes on X, 14q, 20p; mutation identified in 1 MET5 patient	Methemoglobinemia and ambiguous genitalia, 250790 (3), Autosomal recessive	Cyb5a (MGI:1926952)
chr18	74434775	74464648	18q22.3	18q22.3	614544	DIPK1C, FAM69C	Divergent protein kinase domain 1C	DIPK1C	125704	ENSG00000187773			Dipk1c (MGI:3041188)
chr18	74496363	74523454	18q23	18q22.3	169800	CNDP2, PEPA, CN2	Carnosine dipeptidase 2	CNDP2	55748	ENSG00000133313			Cndp2 (MGI:1913304)
chr18	74534500	74587212	18q22.3	18q22.3	609064	CNDP1, CN1	Carnosine dipeptidase 1	CNDP1	84735	ENSG00000150656			Cndp1 (MGI:2451097)
chr18	74597870	75065671	18q22.3	18q22.3	615894	ZNF407, SIMHA	Zinc finger protein 407	ZNF407	55628	ENSG00000215421		SIMHA syndrome, 619557 (3), Autosomal recessive	Zfp407 (MGI:2685179)
chr18	75195108	75209139	18q22.3	18q22.3	620604	PTGR3, ZADH2	Prostaglandin reductase 3	PTGR3	284273	ENSG00000180011			Ptgr3 (MGI:2444835)
chr18	75210797	75289944	18q22.3	18q22.3	614427	TSHZ1, TSH1, CAA	Teashirt zinc finger homeobox 1	TSHZ1	10194	ENSG00000179981		Aural atresia, congenital, 607842 (3), Autosomal dominant	Tshz1 (MGI:1346031)
chr18	76357682	76496419	18q23	18q23	615114	ZNF516, KIAA0222	Zinc finger protein 516	ZNF516	9658	ENSG00000101493			Zfp516 (MGI:2443957)
chr18	76822557	76972901	18q22-q23	18q23	604760	ZNF236	Zinc finger protein-236	ZNF236	7776	ENSG00000130856			Zfp236 (MGI:1926950)
chr18	76978833	77133708	18q22-qter	18q23	159430	MBP	Myelin basic protein	MBP	4155	ENSG00000197971	defective in "shiverer," neurologic mutant in mouse		Mbp (MGI:96925)
chr18	77249848	77277900	18q23	18q23	600377	GALR1, GALNR1, GALNR	Galanin receptor 1	GALR1	2587	ENSG00000166573			Galr1 (MGI:1096364)
chr18	78979818	78998969	18q23	18q23	605079	SALL3	Sal-like 3	SALL3	27164	ENSG00000256463			Sall3 (MGI:109295)
chr18	79069394	79378283	18q22.3-qter	18q23	614446	ATP9B	ATPase, class II, type 9B	ATP9B	374868	ENSG00000166377			Atp9b (MGI:1354757)
chr18	79395930	79529323	18q23	18q23	600489	NFATC1	Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 1	NFATC1	4772	ENSG00000131196			Nfatc1 (MGI:102469)
chr18	79676768	79756625	18q23	18q23	604927	CTDP1, FCP1, CCFDN	C-terminal domain of RNA polymerase II subunit A, phosphatase of, subunit 1	CTDP1	9150	ENSG00000060069		Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3), Autosomal recessive	Ctdp1 (MGI:1926953)
chr18	79797938	79900100	18q23	18q23	605696	KCNG2	Potassium channel, voltage-gated, subfamily G, member 2	KCNG2	26251	ENSG00000178342			Kcng2 (MGI:3694646)
chr18	79970813	80033936	18q23	18q23	611595	TXNL4A, DIM1, BMKS	Thioredoxin-like 4A	TXNL4A	10907	ENSG00000141759		Burn-McKeown syndrome, 608572 (3), Autosomal recessive	Txnl4a (MGI:1351613)
chr18	80034434	80050651	18q23	18q23	620768	RBFA	Ribosome-binding factor A	RBFA	79863	ENSG00000101546			Rbfa (MGI:1915981)
chr18	80109262	80140346	18q23	18q23	617422	ADNP2, KIAA0863	Activity-dependent neuroprotector homeobox 2	ADNP2	22850	ENSG00000101544			Adnp2 (MGI:2448562)
chr18	80157232	80247514	18q23	18q23	608976	PARD6G	partitioning-defective protein 6, C. elegans, homolog of	PARD6G	84552	ENSG00000178184			Pard6g (MGI:2135606)
chr19	1	12600000	19p13.3-p13.2		108725	ATHS, ALP	Atherosclerosis susceptibility (lipoprotein associated)		470		closely linked to LDLR; may be LDLR	{Atherosclerosis, susceptibility to}, 108725 (2), Autosomal dominant	
chr19	1	58617616	19pter-q13		120050	CXB3S	Coxsackie virus B3 sensitivity		1526				
chr19	1	26200001	19p		600209	EXT3	Exostoses, multiple, 3		2133			Exostoses, multiple, type 3, 600209 (2), Autosomal dominant	
chr19	1	19900000	19pter-p13.1		614233	FPH1, MUH, HPP	Hyperpigmentation, familial progressive, 1					Hyperpigmentation, familial progressive, 1, 614233 (2)	
chr19	1	19900000	19p13		606674	IBD6	Inflammatory bowel disease 6		50942			{Inflammatory bowel disease 6}, 606674 (2)	
chr19	1	6900000	19p13.3		181800	IS1, AIS	Adolescent idiopathic scoliosis		260402			Scoliosis, idiopathic 1, 181800 (2), Autosomal dominant	
chr19	1	6900000	19p13.3		605305	KIR2DL5A, KIR2DL5	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A	KIR2DL5A	57292				Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	1	19900000	19p13		607508	MGR5	Migraine with or without aura, susceptibility to, 5		387576			{Migraine with or without aura, susceptibility to, 5}, 607508 (2), Autosomal dominant	
chr19	1	19900000	19p13		615830	PPNAD4	Pigmented nodular adrenocortical disease, primary, 4				duplication of 294kb to 2.7Mb on 19p13	Pigmented nodular adrenocortical disease, primary, 4, 615830 (4), Autosomal dominant	
chr19	1	19900000	19p13		605364	PSORS6	Psoriasis susceptibility 6		63869			{Psoriasis susceptibility 6}, 605364 (2)	
chr19	281043	291403	19p13.3	19p13.3	607126	PLPP2, PPAP2C	Phospholipid phosphatase 2	PLPP2	8612	ENSG00000141934			Plpp2 (MGI:1354945)
chr19	305573	344796	19p13.3	19p13.3	620092	MIER2	MIER family, member 2	MIER2	54531	ENSG00000105556			Mier2 (MGI:1917677)
chr19	361747	376026	19p13.3	19p13.3	609503	SPMAP2, THEG	Sperm microtubule-associated protein 2	SPMAP2	51298	ENSG00000105549			Spmap2 (MGI:1338756)
chr19	405445	409147	19p13.3	19p13.3	610336	C2CD4C, NLF3, KIAA1957	C2 calcium-dependent domain containing 4C	C2CD4C	126567	ENSG00000183186			C2cd4c (MGI:2685084)
chr19	416589	461033	19p13.3	19p13.3	605217	SHC2, SHCB, SCK	SHC transforming protein 2	SHC2	25759	ENSG00000129946			Shc2 (MGI:106180)
chr19	496486	505343	19p13.3	19p13.3	102670	MACAM1	Mucosal addressin cell adhesion molecule-1	MADCAM1	8174	ENSG00000099866			Madcam1 (MGI:103579)
chr19	507497	519654	19p13.3	19p13.3	620709	TPGS1, PGS1, GTRGEO22	Tubulin polyclutamylase complex, subunit 1	TPGS1	91978	ENSG00000141933			Tpgs1 (MGI:106618)
chr19	531760	542087	19p13.3	19p13.3	116948	CDC34, UBCH3, UBE2R1	Cell division cycle 34, ubiquitin-conjugating enzyme	CDC34	997	ENSG00000099804			Cdc34,Cdc34b (MGI:102657,MGI:1858429)
chr19	544053	549922	19p13.3	19p13.3	600311	GZMM	Granzyme M (lymphocyte met-ase 1)	GZMM	3004	ENSG00000197540			Gzmm (MGI:99549)
chr19	571283	583493	19p13.3	19p13.3	109480	BSG	Basigin (blood group OK)	BSG	682	ENSG00000172270		[Blood group, OK], 111380 (3)	Bsg (MGI:88208)
chr19	589881	617159	19p13.3	19p13.3	602781	HCN2, BCNG2, GEFSP11, FEB2, EIG17	Hyperpolarization-activated cyclic nucleotide-gated potassium channel 2	HCN2	610	ENSG00000099822		Febrile seizures, familial, 2, 602477 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 17}, 602477 (3), Autosomal dominant; Generalized epilepsy with febrile seizures plus, type 11, 602477 (3), Autosomal dominant	Hcn2 (MGI:1298210)
chr19	617221	633537	19p13.3	19p13.3	601778	POLRMT, APOLMT, COXPD55	Polymerase (RNA) mitochondrial (DNA directed)	POLRMT	5442	ENSG00000099821		Combined oxidative phosphorylation deficiency 55, 619743 (3), Autosomal recessive, Autosomal dominant	Polrmt (MGI:1915843)
chr19	639879	644373	19p13.3	19p13.3	605831	FGF22	Fibroblast growth factor 22	FGF22	27006	ENSG00000070388			Fgf22 (MGI:1914362)
chr19	647526	663214	19p13.3	19p13.3	615177	RNF126	RING finger protein 126	RNF126	55658	ENSG00000070423			Rnf126 (MGI:1917544)
chr19	676392	683385	19p13	19p13.3	605343	FSTL3, FLRG	Follistatin-like 3	FSTL3	10272	ENSG00000070404			Fstl3 (MGI:1890391)
chr19	708935	748329	19p13.3	19p13.3	608134	PALM, KIAA0270	Paralemmin	PALM	5064	ENSG00000099864			Palm (MGI:1261814)
chr19	748438	764318	19p13.3	19p13.3	615289	MISP, C19orf21	Mitotic spindle-positioning protein	MISP	126353	ENSG00000099812			Misp (MGI:1926156)
chr19	797452	812312	19p13.3	19p13.3	600693	PTBP1, PTB, HNRNPI	Polypyrimidine tract-binding protein 1	PTBP1	5725	ENSG00000011304	pseudogene on chr. 14		Ptbp1 (MGI:97791)
chr19	812488	823797	19p13.3	19p13.3	610391	PLPPR3, LPPR3, LPR3, PRG2	Phospholipid phosphatase-related protein 3	PLPPR3	79948	ENSG00000129951			Plppr3 (MGI:2388640)
chr19	827837	832018	19p13.3	19p13.3	162815	AZU1, CAP37	Azurocidin-1 (cationic antimicrobial protein-37)	AZU1	566	ENSG00000172232	5\(rm-AZU1-8kb-PR3-3kb-ELAN-3'		
chr19	840999	848175	19p13.3	19p13.3	177020	PRTN3, AGP7	Proteinase 3	PRTN3	5657	ENSG00000196415			Prtn3 (MGI:893580)
chr19	852303	856243	19p13.3	19p13.3	130130	ELANE, ELA2, SCN1	Elastase, neutrophil-expressed	ELANE	1991	ENSG00000197561		Neutropenia, cyclic, 162800 (3), Autosomal dominant; Neutropenia, severe congenital 1, autosomal dominant, 202700 (3), Autosomal dominant	Elane (MGI:2679229)
chr19	859664	863641	19p13.3	19p13.3	134350	CFD, ADN	Complement factor D	CFD	1675	ENSG00000197766		Complement factor D deficiency, 613912 (3), Autosomal recessive	Cfd (MGI:87931)
chr19	867963	893187	19p13.3	19p13.3	604062	MED16, THRAP5, DRIP92, TRAP95	Mediator complex subunit 16	MED16	10025	ENSG00000175221			Med16 (MGI:2158394)
chr19	917333	921005	19p13.3	19p13.3	604161	KISS1R, GPR54, HH8, CPPB1	KISS1 receptor	KISS1R	84634	ENSG00000116014	mutation identified in 1 CPPB1 patient	Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3), Autosomal recessive; ?Precocious puberty, central, 1, 176400 (3), Autosomal dominant	Kiss1r (MGI:2148793)
chr19	925732	975939	19p13.3	19p13.3	603265	DRIL1	Dead ringer, Drosophila, homolog-like 1	ARID3A	1820	ENSG00000116017			Arid3a (MGI:1328360)
chr19	982928	994557	19p13.3	19p13.3	620291	WDR18	WD repeat-containing protein 18	WDR18	57418	ENSG00000065268			Wdr18 (MGI:2158400)
chr19	1000419	1009732	19p13.3	19p13.3	606651	GRIN3B	Glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	GRIN3B	116444	ENSG00000116032			Grin3b (MGI:2150393)
chr19	1009653	1021123	19p13.3	19p13.3	611011	TMEM259, C19orf6	Transmembrane protein 259 (membralin)	TMEM259	91304	ENSG00000182087			Tmem259 (MGI:2177957)
chr19	1026608	1039065	19p13.3	19p13.3	602373	CNN2	Calonin 2	CNN2	1265	ENSG00000064666	previously assigned to 21q11.1		Cnn2 (MGI:105093)
chr19	1040107	1065572	19p13.3	19p13.3	605414	ABCA7, ABCX, AD9	ATP-binding cassette, subfamily A, member 7	ABCA7	10347	ENSG00000064687		{Alzheimer disease 9, susceptibility to}, 608907 (3), Autosomal dominant	Abca7 (MGI:1351646)
chr19	1065959	1086628	19p13.3	19p13.3	601155	HMHA1, HLA-HA1, KIAA0223	Minor histocompatibility antigen HA-1	ARHGAP45	23526	ENSG00000180448			Arhgap45 (MGI:1917969)
chr19	1086574	1095375	19p13.3	19p13.3	180664	POLR2E	Polymerase (RNA) II (DNA directed) polypeptide E, 25kD	POLR2E	5434	ENSG00000099817			Polr2e (MGI:1913670)
chr19	1103994	1106779	19p13.3	19p13.3	138322	GPX4, SMDS	Glutathione peroxidase-4 (phospholipid hydroperoxidase)	GPX4	2879	ENSG00000167468		Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3), Autosomal recessive	Gpx4 (MGI:104767)
chr19	1107638	1174268	19p13.3	19p13.3	615729	SBNO2, KIAA0963	Strawberry notch, Drosophila, homolog of, 2	SBNO2	22904	ENSG00000064932			Sbno2 (MGI:2448490)
chr19	1205778	1228431	19p13.3	19p13.3	602216	STK11, PJS, LKB1	Serine/threonine protein kinase-11	STK11	6794	ENSG00000118046		Melanoma, malignant, somatic, 155600 (3); Pancreatic cancer, somatic, 260350 (3); Peutz-Jeghers syndrome, 175200 (3), Autosomal dominant; Testicular tumor, somatic, 273300 (3)	Stk11 (MGI:1341870)
chr19	1241751	1244825	19p13.3	19p13.3	603150	ATP5F1D, ATP5D, MC5DN5	ATP synthase F1 subunit delta	ATP5F1D	513	ENSG00000099624		Mitochondrial complex V (ATP synthase) deficiency, 618120 (3), Autosomal recessive	Atp5f1d (MGI:1913293)
chr19	1248583	1259143	19p13.3	19p13.3	606700	MIDN	Midnolin, mouse, homolog of	MIDN	90007	ENSG00000167470			Midn (MGI:1890222)
chr19	1269332	1274880	19p13.3	19p13.3	602649	CIRBP	Cold-inducible RNA-binding protein	CIRBP	1153	ENSG00000099622			Cirbp (MGI:893588)
chr19	1284227	1301431	19p13.3	19p13.3	602756	EFNA2, EPLG6, LERK6	Ephrin A2	EFNA2	1943	ENSG00000099617			Efna2 (MGI:102707)
chr19	1383907	1395584	19p13	19p13.3	601825	NDUFS7, PSST, MC1DN3	NADH-ubiquinone oxidoreductase core subunit S7	NDUFS7	374291	ENSG00000115286		Mitochondrial complex I deficiency, nuclear type 3, 618224 (3), Autosomal recessive	Ndufs7 (MGI:1922656)
chr19	1397026	1401542	19p13.3	19p13.3	601240	GAMT, CCDS2	Guanidinoacetate methyltransferase	GAMT	2593	ENSG00000130005		Cerebral creatine deficiency syndrome 2, 612736 (3), Autosomal recessive	Gamt (MGI:1098221)
chr19	1407586	1435684	19p13.3	19p13.3	607430	DAZAP1	DAZ-associated protein 1	DAZAP1	26528	ENSG00000071626			Dazap1 (MGI:1917498)
chr19	1438396	1440495	19p	19p13.3	180535	RPS15, RIG	Ribosomal protein S15	RPS15	6209	ENSG00000115268			Rps15 (MGI:98117)
chr19	1446230	1473244	19p13.3	19p13.3	612034	APC2, APCL, MRT74	APC regulator of WNT signaling pathway 2	APC2	10297	ENSG00000115266	mutation identified in 1 MRT74 family	Cortical dysplasia, complex, with other brain malformations 10, 618677 (3), Autosomal recessive; Intellectual developmental disorder, autosomal recessive 74, 617169 (3), Autosomal recessive	Apc2 (MGI:1346052)
chr19	1481428	1490876	19p13.3	19p13.3	600487	PCSK4	Proprotein convertase subtilisin/kexin type 4	PCSK4	54760	ENSG00000115257			Pcsk4 (MGI:97514)
chr19	1491181	1497927	19p13.3	19p13.3	609346	REEP6, DP1L1, TB2L1, C19orf32, RP77	Receptor expression-enhancing protein 6	REEP6	92840	ENSG00000115255		Retinitis pigmentosa 77, 617304 (3), Autosomal recessive	Reep6 (MGI:1917585)
chr19	1524077	1536046	19p13.3	19p13.3	621048	PLK5	Polo-like kinase 5, inactive	PLK5	126520	ENSG00000185988			Plk5 (MGI:3026984)
chr19	1554672	1568325	19p13.3	19p13.3	611009	MEX3D, RKHD1, TINO, KIAA2031	Mex-3, C. elegans, homolog of, D	MEX3D	399664	ENSG00000181588			Mex3d (MGI:2681847)
chr19	1573596	1592865	19p13.3	19p13.3	603573	MBD3	Methyl-CpG-binding domain protein 3	MBD3	53615	ENSG00000071655			Mbd3 (MGI:1333812)
chr19	1597169	1605462	19p13.3	19p13.3	609711	UQCR11, UQCR	Ubiquinol-cytochrome c reductase, complex III subunit XI	UQCR11	10975	ENSG00000127540			Uqcr11 (MGI:1913844)
chr19	1609292	1652615	19p13.3	19p13.3	147141	TCF3, E2A, AGM8A, AGM8B	Transcription factor-3 (E2A immunoglobulin enhancer-binding factors E12/E47)	TCF3	6929	ENSG00000071564		Agammaglobulinemia 8B, autosomal recessive, 619824 (3), Autosomal recessive; Agammaglobulinemia 8A, autosomal dominant, 616941 (3), Autosomal dominant	Tcf3 (MGI:98510)
chr19	1753506	1780988	19p13.3	19p13.3	611294	ONECUT3, OC3	One cut homeobox 3	ONECUT3	390874	ENSG00000205922			Onecut3 (MGI:1891409)
chr19	1782075	1812276	19p13.3	19p13.3	605866	ATP8B3, ATPIK	ATPase, class I, type 8B, member 3	ATP8B3	148229	ENSG00000130270			Atp8b3 (MGI:1914581)
chr19	1815248	1848483	19p13.3	19p13.3	609614	REXO1, REX1, ELOABP1, TCEB3BP1	RNA exonuclease 1, S. cerevisiae, homolog of	REXO1	57455	ENSG00000079313			Rexo1 (MGI:1914182)
chr19	1816159	1816238	19p13.3	19p13.3	615201	MIR1909	Micro RNA 1909	MIR1909	100302210	ENSG00000284216			
chr19	1852399	1876536	19p13.3	19p13.3	606139	KLF16, BTEB4, DRRF	Kruppel-like factor 16	KLF16	83855	ENSG00000129911			Klf16 (MGI:2153049)
chr19	1876810	1885496	19p13.3	19p13.3	617942	ABHD17A, FAM108A1	Abhydrolase domain-containing protein 17A, depalmitoylase	ABHD17A	81926	ENSG00000129968			Abhd17a (MGI:106388)
chr19	1905399	1913447	19p13.3	19p13.3	615302	ADAT3, TAD3, NEDBGF	Adenosine deaminase, tRNA-specific, 3	ADAT3	113179	ENSG00000213638		Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, 615286 (3), Autosomal recessive	Adat3 (MGI:1924344)
chr19	1905399	1926013	19p13.3	19p13.3	613764	SCAMP4	Secretory carrier membrane protein 4	SCAMP4	113178	ENSG00000227500			Scamp4 (MGI:1928947)
chr19	1941172	1981338	19p13.3	19p13.3	602214	CSNK1G2	Casein kinase 1, gamma-2	CSNK1G2	1455	ENSG00000133275			Csnk1g2 (MGI:1920014)
chr19	1985448	2015714	19p13.3	19p13.3	608531	BTBD2	BTB/POZ domain-containing protein 2	BTBD2	55643	ENSG00000133243			Btbd2 (MGI:1933831)
chr19	2037471	2051244	19p13.3	19p13.3	605069	MKNK2, MNK2, GPRK7	Mitogen-activated protein kinase-interacting serine/threonine kinase-2	MKNK2	2872	ENSG00000099875			Mknk2 (MGI:894279)
chr19	2071036	2096515	19p13.3	19p13.3	620929	MOB3A	MOB kinase activator 3A	MOB3A	126308	ENSG00000172081			Mob3a (MGI:3050117)
chr19	2096915	2099590	19p13.3	19p13.3	618897	IZUMO4	IZUMO family, member 4	IZUMO4	113177	ENSG00000099840			Izumo4 (MGI:1918814)
chr19	2100988	2164616	19p13.3	19p13.3	607246	AP3D1, HPS10	Adaptor-related protein complex 3, delta-1 subunit	AP3D1	8943	ENSG00000065000	mutation identified in 1 HPS10 patient	?Hermansky-Pudlak syndrome 10, 617050 (3), Autosomal recessive	Ap3d1 (MGI:107734)
chr19	2163933	2232578	19p13.3	19p13.3	607375	DOT1L, DOT1, KIAA1814	Dot1, yeast, homolog of	DOT1L	84444	ENSG00000104885			Dot1l (MGI:2143886)
chr19	2229981	2236329	19p13.3	19p13.3	617834	PLEKHJ1, GNRPX	Pleckstrin homology domain-containing protein, family J, member 1	PLEKHJ1	55111	ENSG00000104886			Plekhj1 (MGI:1925920)
chr19	2236824	2248655	19p13.3-p13.2	19p13.3	600796	SF3A2, SAP62, PRP11	Splicing factor 3a, subunit 2, 66kD	SF3A2	8175	ENSG00000104897			Sf3a2 (MGI:104912)
chr19	2249323	2252073	19p13.3-p13.2	19p13.3	600957	AMH, MIF	Anti-Mullerian hormone	AMH	268	ENSG00000104899		Persistent Mullerian duct syndrome, type I, 261550 (3), Autosomal recessive	Amh (MGI:88006)
chr19	2252252	2256417	19p13.3	19p13.3	608743	JSRP1, JP45	Junctional sarcoplasmic reticulum protein 1	JSRP1	126306	ENSG00000167476			Jsrp1 (MGI:1916700)
chr19	2269486	2273488	19p13.3	19p13.3	601579	OAZ1	Ornithine decarboxylase antizyme 1	OAZ1	4946	ENSG00000104904			Oaz1 (MGI:109433)
chr19	2274631	2282175	19p13.3	19p13.3	618526	PEAK3, C19orf35	PEAK family member 3	PEAK3	374872	ENSG00000188305			
chr19	2287164	2308154	19p13.3	19p13.3	609792	LRRN6B, LINGO3, LERN2	Leucine-rich repeat protein, neuronal, 6B	LINGO3	645191	ENSG00000220008			Lingo3 (MGI:3609246)
chr19	2321521	2328586	19p13.3	19p13.3	607287	LSM7	LSM7 protein	LSM7	51690	ENSG00000130332			Lsm7 (MGI:1913344)
chr19	2328684	2355095	19p13.3	19p13.3	608239	SNPPL2B, IMP4, KIAA1532	Signal peptide peptidase-like 2B	SPPL2B	56928	ENSG00000005206			Sppl2b (MGI:1920468)
chr19	2360265	2426261	19p13.3	19p13.3	610477	TMPRSS9	Transmembrane protease, serine 9	TMPRSS9	360200	ENSG00000178297			Tmprss9 (MGI:3612246)
chr19	2425625	2427586	19p13.3	19p13.3	607383	TIMM13	Translocase of inner mitochondrial membrane 13	TIMM13	26517	ENSG00000099800			Timm13 (MGI:1353432)
chr19	2428166	2456959	19p13.3	19p13.3	150341	LMNB2, LMN2, EPM9, MCPH27	Lamin B2	LMNB2	84823	ENSG00000176619	mutation identified in 1 EPM9 family	Microcephaly 27, primary, autosomal dominant, 619180 (3), Autosomal dominant; ?Epilepsy, progressive myoclonic, 9, 616540 (3), Autosomal recessive; {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3), Autosomal dominant	Lmnb2 (MGI:96796)
chr19	2476127	2478257	19p13.3	19p13.3	604948	GADD45B, MYD118	Growth arrest- and DNA damage-inducible gene 45, beta	GADD45B	4616	ENSG00000099860			Gadd45b (MGI:107776)
chr19	2511219	2702694	19p13.3	19p13.3	604430	GNG7	Guanine nucleotide-binding protein, gamma-7	GNG7	2788	ENSG00000176533			Gng7 (MGI:95787)
chr19	2714567	2721372	19p13.3	19p13.3	607862	DIRAS1, RIG	DIRAS family, GTP-binding Ras-like protein 1	DIRAS1	148252	ENSG00000176490			Diras1 (MGI:2183442)
chr19	2732524	2740076	19p13.3	19p13.3	612168	SLC39A3, ZIP3	Solute carrier family 39, zinc transporter, member 3	SLC39A3	29985	ENSG00000141873			Slc39a3 (MGI:2147269)
chr19	2754715	2783273	19p13	19p13.3	603419	SGTA, SGT	Small glutamine-rich tetratricopeptide repeat-containing cochaperone, alpha	SGTA	6449	ENSG00000104969			Sgta (MGI:1098703)
chr19	2785503	2815807	19p13.3	19p13.3	601117	THOP1	Thimet oligopeptidase-1	THOP1	7064	ENSG00000172009			Thop1 (MGI:1354165)
chr19	2933218	2944971	19p	19p13.3	194551	ZNF77	Zinc finger protein-77 (pT1)	ZNF77	58492	ENSG00000175691			
chr19	2977401	2995179	19p13.3	19p13.3	612399	TLE6, GRG6, OZEMA15	TLE family member 6, subcortical maternal complex member	TLE6	79816	ENSG00000104953		Oocyte/zygote/embryo maturation arrest 15, 616814 (3), Autosomal recessive	Tle6 (MGI:2149593)
chr19	2997644	3047635	19p13.3	19p13.3	601041	TLE2, ESG2	TLE family member 2, transcriptional corepressor	TLE2	7089	ENSG00000065717			Tle2 (MGI:104635)
chr19	3052910	3062966	19p13.3	19p13.3	600188	TLE5, AES, GRG5	TLE family member 5, transcriptional modulator	TLE5	166	ENSG00000104964			Tle5 (MGI:95806)
chr19	3094362	3123999	19p13	19p13.3	139313	GNA11, HHC2, HYPOC2	Guanine nucleotide-binding protein (G protein), alpha-11	GNA11	2767	ENSG00000088256		Hypocalciuric hypercalcemia, type II, 145981 (3), Autosomal dominant; Hypocalcemia, autosomal dominant 2, 615361 (3), Autosomal dominant	Gna11 (MGI:95766)
chr19	3136033	3163749	19p13	19p13.3	139314	GNA15, GNA16	Guanine nucleotide-binding protein (G protein) alpha 15 (Gq class)	GNA15	2769	ENSG00000060558			Gna15 (MGI:95770)
chr19	3178769	3180332	19p13.3	19p13.3	603751	S1PR4, EDG6, S1P4	Sphingosine-1-phosphate receptor 4	S1PR4	8698	ENSG00000125910			S1pr4 (MGI:1333809)
chr19	3185930	3209575	19p13.3	19p13.3	609156	NCLN	Nicalin	NCLN	56926	ENSG00000125912			Ncln (MGI:1926081)
chr19	3224661	3297076	19p13	19p13.3	612680	CELF5, BRUNOL5	CUGbp- and ELAV-like family, member 5	CELF5	60680	ENSG00000161082			Celf5 (MGI:2442333)
chr19	3359630	3469217	19p13.3	19p13.3	600729	NFIC	Nuclear factor I/C (CCAAT-binding transcription factor)	NFIC	4782	ENSG00000141905	order: cen-NFIX-NFIC-tel		Nfic (MGI:109591)
chr19	3490824	3500674	19p13.3	19p13.3	611262	DOHH, HLRC1, NEDMVIC	Deoxyhypusine hydroxylase	DOHH	83475	ENSG00000129932		Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, 620066 (3), Autosomal recessive	Dohh (MGI:1915964)
chr19	3506311	3538334	19p13.3	19p13.3	603619	FZR1, HCDH1, KIAA1242, DEE109	Fizzy and cell division cycle 20-related protein 1	FZR1	51343	ENSG00000105325		Developmental and epileptic encephalopathy 109, 620145 (3), Autosomal dominant	Fzr1 (MGI:1926790)
chr19	3538275	3557586	19p13.3	19p13.3	617745	MFSD12, PP3501	Major facilitator superfamily domain-containing protein 12	MFSD12	126321	ENSG00000161091			Mfsd12 (MGI:3604804)
chr19	3572944	3579083	19p13.3	19p13.3	605535	HMG20B, BRAF35	High mobility group protein 20B	HMG20B	10362	ENSG00000064961			Hmg20b (MGI:1341190)
chr19	3585478	3593541	19p13.3	19p13.3	608792	GIPC3, DFNB15, DFNB72, DFNB95	GAIP C-terminus-interacting protein 3	GIPC3	126326	ENSG00000179855		Deafness, autosomal recessive 15, 601869 (3), Autosomal recessive	Gipc3 (MGI:2387006)
chr19	3594507	3606875	19p13.3	19p13.3	188070	TBXA2R, BDPLT13	Thromboxane A2 receptor	TBXA2R	6915	ENSG00000006638		{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3), Autosomal dominant	Tbxa2r (MGI:98496)
chr19	3610645	3626790	19p13.3	19p13.3	618536	CACTIN, C19orf29	Cactin, splicesome C complex subunit	CACTIN	58509	ENSG00000105298			Cactin (MGI:1917562)
chr19	3630183	3700468	19p13.3	19p13.3	606102	PIP5K1C, LCCS3	Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	PIP5K1C	23396	ENSG00000186111		Lethal congenital contractural syndrome 3, 611369 (3), Autosomal recessive	Pip5k1c (MGI:1298224)
chr19	3708384	3750813	19p13.3	19p13.3	612689	TJP3, ZO3	Tight junction protein 3	TJP3	27134	ENSG00000105289			Tjp3 (MGI:1351650)
chr19	3750772	3761692	19p13.3	19p13.3	604262	APBA3, X11L2, MINT3	Amyloid beta A4 precursor protein-binding, family A, member 3	APBA3	9546	ENSG00000011132			Apba3 (MGI:1888527)
chr19	3762682	3767565	19p13.3	19p13.3	611858	MRPL54	Mitochondrial ribosomal protein L54	MRPL54	116541	ENSG00000183617			Mrpl54 (MGI:1913297)
chr19	3769089	3772228	19p13.3	19p13.3	610362	RAX2, RAXL1, QRX, CORD11, ARMD6, RP95	Retina and anterior neural fold homeobox 2	RAX2	84839	ENSG00000173976	mutation identified in 1 ARMD6 patient	Retinitis pigmentosa 95, 620102 (3), Autosomal recessive; Cone-rod dystrophy 11, 610381 (3), Autosomal dominant; ?Macular degeneration, age-related, 6, 613757 (3)	
chr19	3777973	3801799	19p13.3	19p13.3	600038	MATK, HYL, CTK	Megakaryocyte-associated tyrosine kinase	MATK	4145	ENSG00000007264			Matk (MGI:99259)
chr19	3804024	3869038	19p13.3	19p13.3	619284	ZFR2, KIAA1086	Zinc finger RNA-binding protein 2	ZFR2	23217	ENSG00000105278			Zfr2 (MGI:2143792)
chr19	3880685	3928082	19p13.3	19p13.3	608179	ATCAY, CLAC, KIAA1872	Caytaxin	ATCAY	85300	ENSG00000167654		Ataxia, cerebellar, Cayman type, 601238 (3), Autosomal recessive	Atcay (MGI:2448730)
chr19	3933069	3942416	19p13.3	19p13.3	608705	ITGB1BP3, MIBP	Integrin, beta-1, binding protein of, 3	NMRK2	27231	ENSG00000077009			Nmrk2 (MGI:1916814)
chr19	3958453	3971099	19q13.3	19p13.3	603289	ZIPK	ZIP kinase	DAPK3	1613	ENSG00000167657			Dapk3 (MGI:1203520)
chr19	3976056	3985463	19pter-q12	19p13.3	130610	EEF2, EF2, SCA26	Eukaryotic translation elongation factor-2	EEF2	1938	ENSG00000167658	mutation identified in 1 family	?Spinocerebellar ataxia 26, 609306 (3), Autosomal dominant	Eef2 (MGI:95288)
chr19	4007736	4039386	19p13.3	19p13.3	605989	PIAS4, PIASY	Protein inhibitor of activated STAT4	PIAS4	51588	ENSG00000105229			Pias4 (MGI:2136940)
chr19	4043303	4066899	19p13.3	19p13.3	605878	ZBTB7A, FBI1, LRF, MNDLFH	Zinc finger and BTB domain containing 7A	ZBTB7A	51341	ENSG00000178951		Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, 619769 (3), Autosomal dominant	Zbtb7a (MGI:1335091)
chr19	4090321	4124122	19p13.3	19p13.3	601263	MAP2K2, PRKMK2, MEK2, MKK2, CFC4	Mitogen-activated protein kinase kinase 2	MAP2K2	5605	ENSG00000126934	previously assigned to 7q32	Cardiofaciocutaneous syndrome 4, 615280 (3), Autosomal dominant	Map2k2 (MGI:1346867)
chr19	4153631	4173054	19p13.3	19p13.3	611998	CREB3L3, CREBH, HYTG2	cAMP responsive element-binding protein 3-like 3	CREB3L3	84699	ENSG00000060566		Hypertriglyceridemia 2, 619324 (3), Autosomal dominant	Creb3l3 (MGI:2384786)
chr19	4174109	4182563	19p13.3	19p13.3	606211	SIRT6, SIR2L6	Sirtuin 6	SIRT6	51548	ENSG00000077463			Sirt6 (MGI:1354161)
chr19	4182689	4224814	19p13.3	19p13.3	620234	ANKRD24, KIAA1981	Ankyrin repeat domain-containing protein 24	ANKRD24	170961	ENSG00000089847			Ankrd24 (MGI:1890394)
chr19	4229523	4237528	19p13.3	19p13.3	605816	EBI3	Epstein-Barr virus-induced gene 3	EBI3	10148	ENSG00000105246			Ebi3 (MGI:1354171)
chr19	4279069	4290722	19p13.3	19p13.3	610481	SHD	SH2 domain-containing protein D	SHD	56961	ENSG00000105251			Shd (MGI:1099461)
chr19	4292227	4302389	19p13.3	19p13.3	614715	TMIGD2, IGPR1	Transmembrane and immunoglobulin domains-containing protein 2	TMIGD2	126259	ENSG00000167664			
chr19	4304598	4323836	19p13.3	19p13.3	609828	FSD1, GLFND	Fibronectin type 3 and SPRY domains-containing protein 1	FSD1	79187	ENSG00000105255			Fsd1 (MGI:1934858)
chr19	4324043	4338827	19p13.3	19p13.3	607881	STAP2, BKS	Signal-transducing adaptor protein 2	STAP2	55620	ENSG00000178078			Stap2 (MGI:2147039)
chr19	4360370	4400547	19p13.3	19p13.3	601768	SH3GL1, EEN	SH3 domain GRB2-like 1 (Extra 11-19 leukemia fusion gene)	SH3GL1	6455	ENSG00000141985		Leukemia, acute myeloid, 601626 (1), Somatic mutation, Autosomal dominant	Sh3gl1 (MGI:700010)
chr19	4402640	4450830	19p13.3	19p13.3	601246	CHAF1A, CAF1B, CAF1P150	Chromatin assembly factor I, subunit A	CHAF1A	10036	ENSG00000167670			Chaf1a (MGI:1351331)
chr19	4445006	4457879	19p13	19p13.3	611946	UBXN6, UBXD1	UBX domain protein 6	UBXN6	80700	ENSG00000167671			Ubxn6 (MGI:1913780)
chr19	4472297	4502207	19p13.3	19p13.3	617884	HDGFL2, HDGFRP2	Hepatoma-derived growth factor-like protein 2	HDGFL2	84717	ENSG00000167674			Hdgfl2 (MGI:1194492)
chr19	4502192	4518486	19p13.3	19p13.3	613247	PLIN4, KIAA1881, MRUPAV	Perilipin 4	PLIN4	729359	ENSG00000167676		Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant, 601846 (3), Autosomal dominant	Plin4 (MGI:1929709)
chr19	4522531	4535224	19p13.3	19p13.3	613248	PLIN5, LSDP5	Perilipin 5	PLIN5	440503	ENSG00000214456			Plin5 (MGI:1914218)
chr19	4536402	4540036	19p13.3	19p13.3	611289	LRG1, LRG	Leucine-rich alpha-2-glycoprotein 1	LRG1	116844	ENSG00000171236			Lrg1 (MGI:1924155)
chr19	4542593	4559684	19p13.3	19p13.3	608873	SEMA6B, EPM11	Semaphorin 6B	SEMA6B	10501	ENSG00000167680		Epilepsy, progressive myoclonic, 11, 618876 (3), Autosomal dominant	Sema6b (MGI:1202889)
chr19	4639516	4655568	19p13.3	19p13.3	615869	TNFAIP8L1, TIPE1	Tumor necrosis factor-alpha-induced protein 8-like 1	TNFAIP8L1	126282	ENSG00000185361			Tnfaip8l1 (MGI:1913693)
chr19	4657545	4670342	19p13.3	19p13.3	606746	MYDGF, C19orf10, SF20, IL25	Myeloid-derived growth factor	MYDGF	56005	ENSG00000074842			Mydgf (MGI:2156020)
chr19	4675227	4723842	19p13.3	19p13.3	608258	DPP9, DPRP2, HATIS, IMD111	Dipeptidyl peptidase IX	DPP9	91039	ENSG00000142002		Hatipoglu immunodeficiency syndrome, 620331 (3), Autosomal recessive	Dpp9 (MGI:2443967)
chr19	4724070	4724141	19p13.3	19p13.3	615303	TRG-TCC1-1, TRNAG3	tRNA glycine (anticodon TCC) 1-1	TRG-TCC1-1	7197				
chr19	4724635	4724707	19p13.3	19p13.3	615304	TRNAV32	Transfer RNA valine 32	TRV-CAC3-1	100189416				
chr19	4791734	4801273	19p13.3	19p13.3	613538	FEM1A	Fem-1 homolog A	FEM1A	55527	ENSG00000141965			Fem1a,Fem1al (MGI:1335089,MGI:2441689)
chr19	4815932	4831712	19p13.3	19p13.3	607601	TICAM1, TRIF, IIAE6	TIR domain-containing adaptor molecule 1	TICAM1	148022	ENSG00000127666		{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3), Autosomal recessive, Autosomal dominant	Ticam1 (MGI:2147032)
chr19	4838341	4867667	19p13.3	19p13.3	602702	PLIN3, M6PRBP1, TIP47	Perilipin 3	PLIN3	10226	ENSG00000105355			Plin3 (MGI:1914155)
chr19	4890437	4916820	19p13.3	19p13.3	620944	ARRDC5	Arrestin domain-containing protein 5	ARRDC5	645432	ENSG00000205784			Arrdc5 (MGI:1924170)
chr19	4903080	4962154	19p13.3	19p13.3	607990	UHRF1, ICBP90, NP95	Ubiquitin-like protein containing PHD and RING finger domains 1	UHRF1	29128	ENSG00000276043			Uhrf1 (MGI:1338889)
chr19	4969113	5153598	19p13.3	19p13.3	609765	KDM4B, JMJD2B, KIAA0876, MRD65	Lysine demethylase 4B	KDM4B	23030	ENSG00000127663		Intellectual developmental disorder, autosomal dominant 65, 619320 (3), Autosomal dominant	Kdm4b (MGI:2442355)
chr19	5205508	5340812	19p13.3	19p13.3	601576	PTPRS	Protein tyrosine phosphatase, receptor type, sigma	PTPRS	5802	ENSG00000105426			Ptprs (MGI:97815)
chr19	5455417	5456856	19p13.3	19p13.3	612063	ZNRF4, SPERIZIN	Zinc finger and ring finger protein 4	ZNRF4	148066	ENSG00000105428			Znrf4 (MGI:1341258)
chr19	5558167	5567953	19p13.3	19p13.3	615241	TINCR	Terminal differentiation-induced noncoding RNA	TINCR	257000	ENSG00000223573			Tincr (MGI:5012404)
chr19	5586999	5622776	19p13.3	19p13.3	608066	SAFB2, KIAA0138	Scaffold attachment factor B2	SAFB2	9667	ENSG00000130254			Safb2 (MGI:2146808)
chr19	5623083	5668478	19p13.3-p13.2	19p13.3	602895	SAFB, HET	Scaffold attachment factor B	SAFB	6294	ENSG00000160633			Safb (MGI:2146974)
chr19	5678422	5680516	19p13.3	19p13.3	616658	MICOS13, C19orf70, MIC13, QIL1	Mitochondrial contact site and cristae organizing system subunit 13	MICOS13	125988	ENSG00000174917		Combined oxidative phosphorylation deficiency 37, 618329 (3), Autosomal recessive	Micos13 (MGI:2442174)
chr19	5690295	5691875	19p13.3	19p13.3	617893	RPL36	Ribosomal protein L36	RPL36	25873	ENSG00000130255			Rpl36,Rpl36-ps12 (MGI:1860603,MGI:3782787)
chr19	5691834	5720452	19p13.2	19p13.3	605490	LONP1, PRSS15, LON, CODASS	lon peptidase 1, mitochondrial	LONP1	9361	ENSG00000196365		CODAS syndrome, 600373 (3), Autosomal recessive	Lonp1 (MGI:1921392)
chr19	5720637	5778734	19p13.3	19p13.3	617490	CATSPERD, TMEM146	Cation channel, sperm-associated, auxiliary subunit delta	CATSPERD	257062	ENSG00000174898			Catsperd (MGI:2147030)
chr19	5785140	5791163	19p13.3	19p13.3	621104	DUS3L, DUS3	Dihydrouridine synthase 3-like protein	DUS3L	56931	ENSG00000141994			
chr19	5805067	5828324	19p13.3	19p13.3	602018	NRTN, NTN	Neurturin	NRTN	4902	ENSG00000171119			Nrtn (MGI:108417)
chr19	5830408	5839702	19p13.3	19p13.3	136836	FUT6	Fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	FUT6	2528	ENSG00000156413	in cluster with FUT3, FUT5	[Fucosyltransferase 6 deficiency], 613852 (3)	
chr19	5842888	5857122	19p13.3	19p13.3	111100	FUT3, LE	Fucosyltransferase 3	FUT3	2525	ENSG00000171124	cen-FUT5-23kb-FUT3-14kb-FUT6-ter	[Blood group, Lewis], 618983 (3)	
chr19	5865826	5870540	19p13.3	19p13.3	136835	FUT5	Fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	FUT5	2527	ENSG00000130383	cen-FUT5-FUT3-FUT6-ter		
chr19	5891229	5903790	19p13.3	19p13.3	612638	NDUFA11, MC1DN14	NADH-ubiquinone oxidoreductase subunit A11	NDUFA11	126328	ENSG00000174886		Mitochondrial complex I deficiency, nuclear type 14, 618236 (3), Autosomal recessive	Ndufa11,Ndufa11b (MGI:1917125,MGI:3645174)
chr19	5904872	5910853	19p13.3	19p13.3	617204	VMAC	Vimentin-type intermediate filament-associated coiled-coil protein	VMAC	400673	ENSG00000187650			Vmac (MGI:2146912)
chr19	5914254	5916211	19p13.3	19p13.3	114212	CAPS	Calcyphosine	CAPS	828	ENSG00000105519			
chr19	5916139	5978140	19p13.3	19p13.3	603327	RANBP3	RAN-binding protein-3	RANBP3	8498	ENSG00000031823			Ranbp3 (MGI:1919060)
chr19	5993164	6110500	19p13.3-p13.2	19p13.3	142765	RFX2	Regulatory factor (trans-acting) 2 (influences HLA class II expression)	RFX2	5990	ENSG00000087903			Rfx2 (MGI:106583)
chr19	6135633	6193091	19p13.3	19p13.3	614363	ACSBG2, BGR	Acyl-CoA synthetase, bubblegum family, member 2	ACSBG2	81616	ENSG00000130377			Acsbg2 (MGI:3587728)
chr19	6210381	6279975	19p13.3	19p13.3	159556	MLLT1, ENL	MLLT1 super elongation complex subunit	MLLT1	4298	ENSG00000130382	fuses with ALL1		Mllt1 (MGI:1927238)
chr19	6306142	6360368	19p13.3	19p13.3	613491	ACER1	Alkaline ceraminidase 1	ACER1	125981	ENSG00000167769			Acer1 (MGI:2181962)
chr19	6361531	6370242	19p13.3	19p13.3	601119	CLPP, PRLTS3, DFNB81	ATP-dependent protease ClpAP, E. coli, proteolytic subunit, homolog of	CLPP	8192	ENSG00000125656		Perrault syndrome 3, 614129 (3), Autosomal recessive	Clpp (MGI:1858213)
chr19	6372794	6375250	19p13.3	19p13.3	613305	ALKBH7, ABH7	AlkB homolog 7	ALKBH7	84266	ENSG00000125652			Alkbh7 (MGI:1913650)
chr19	6375148	6375933	19p13.3	19p13.3	602921	PSPN	Persephin	PSPN	5623	ENSG00000125650			Pspn (MGI:1201684)
chr19	6379572	6393164	19p13.3	19p13.3	189968	GTF2F1, RAP74	General transcription factor IIF, polypeptide 1 (74kD subunit)	GTF2F1	2962	ENSG00000125651			Gtf2f1 (MGI:1923848)
chr19	6413102	6424811	19p13.3	19p13.3	603445	KHSRP, KSRP, FUBP2, FBP2	KH-type splicing regulatory protein	KHSRP	8570	ENSG00000088247			Khsrp (MGI:1336214)
chr19	6426037	6436267	19p13.3	19p13.3	610822	SLC25A41	Solute carrier family 25, member 41	SLC25A41	284427	ENSG00000181240			Slc25a41 (MGI:2144215)
chr19	6436081	6459792	19p13.3	19p13.3	608746	SLC25A23, SCAMC3	Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 23	SLC25A23	79085	ENSG00000125648			Slc25a23 (MGI:1914222)
chr19	6463777	6467221	19p13.3	19p13.3	609737	CRB3	Crumbs cell polarity complex component 3	CRB3	92359	ENSG00000130545			Crb3 (MGI:2670904)
chr19	6467207	6481787	19p13.3	19p13.3	613634	DENND1C	DENN/MADD domain-containing protein 1C	DENND1C	79958	ENSG00000205744			Dennd1c (MGI:1918035)
chr19	6494319	6502848	19p13.3	19p13.3	602662	TUBB4A, DYT4, HLD6	Tubulin, beta-4A	TUBB4A	10382	ENSG00000104833		Dystonia 4, torsion, autosomal dominant, 128101 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 6, 612438 (3), Autosomal dominant	Tubb4a (MGI:107848)
chr19	6531026	6535924	19p13.3	19p13.3	606182	TNFSF9	Tumor necrosis factor ligand superfamily, member 9	TNFSF9	8744	ENSG00000125657			Tnfsf9 (MGI:1101058)
chr19	6581648	6591150	19p13	19p13.3	602840	CD70, TNFSF7, CD27L, LPFS3	CD70 molecule	CD70	970	ENSG00000125726		Lymphoproliferative syndrome 3, 618261 (3), Autosomal recessive	Cd70 (MGI:1195273)
chr19	6661253	6670588	19p13.3	19p13.3	604520	TNFSF14, HVEML	Tumor necrosis factor ligand superfamily, member 14	TNFSF14	8740	ENSG00000125735			Tnfsf14 (MGI:1355317)
chr19	6677704	6720650	19p13.3-p13.2	19p13.3	120700	C3, ARMD9, AHUS5	Complement component-3	C3	718	ENSG00000125730	LE ~7cM in males vs. C3 RFLP	C3 deficiency, 613779 (3), Autosomal recessive; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3), Autosomal dominant; {Macular degeneration, age-related, 9}, 611378 (3)	C3 (MGI:88227)
chr19	6729914	6737580	19p13.3	19p13.3	618491	GPR108, LUSTR2	G protein-coupled receptor 108	GPR108	56927	ENSG00000125734			Gpr108 (MGI:1925558)
chr19	6739680	6751530	19p13.3	19p13.3	604504	TRIP10, CIP4	Thyroid hormone receptor interactor 10	TRIP10	9322	ENSG00000125733			Trip10 (MGI:2146901)
chr19	6752160	6767435	19p13.3	19p13.3	604721	SH2D3A, NSP1	SH2 domain-containing protein 3A	SH2D3A	10045	ENSG00000125731			
chr19	6772708	6857361	19p13.3-p13.2	19p13.3	164875	VAV1, VAV	VAV guanine nucleotide exchange factor 1	VAV1	7409	ENSG00000141968	close to INSR		Vav1 (MGI:98923)
chr19	6887579	6940450	19p13.3	19p13.3-p13.2	600493	ADGRE1, EMR1	Adhesion G protein-coupled receptor E1	ADGRE1	2015	ENSG00000174837			Adgre1 (MGI:106912)
chr19	6900001	50900000	19p13.2-q13.3		164953	LPSA, D19S381E	Oncogene liposarcoma (DNA segment, single copy, expressed, probes MC15, MC6)		8177			Liposarcoma (1)	
chr19	6900001	12600000	19p13.2		614223	NRCLP6	Narcolepsy 6		100689216		associated with rs2305795	Narcolepsy 6, 614223 (2)	
chr19	6900001	19900000	19p13.2-p13.1		607324	PAPA3	Polydactyly, postaxial, type A3		338333		between D19S1165 and D19S929	Polydactyly, postaxial, type A3, 607324 (2)	
chr19	6900001	12600000	19p13.2		184700	PCOS1, PCO1, PCO	Polycystic ovary syndrome 1		5120		max lod at D19S884	Polycystic ovary syndrome 1, 184700 (2), Autosomal dominant	
chr19	6900001	12600000	19p13.2		603386	TCO	Thyroid carcinoma, nonmedullary, with cell oxyphilia		50975			Thyroid carcinoma, nonmedullary, with cell oxyphilia, 603386 (2)	
chr19	6950758	6997851	19p13.3	19p13.2	612305	ADGRE4P, EMR4, GPR127, EMR4P, FIRE	Adhesion G protein-coupled receptor E4, pseudogene	ADGRE4P	326342				
chr19	7049321	7051735	19p13.2	19p13.2	607964	MBD3L2	Methyl-CpG binding domain protein 3-like 2	MBD3L2	125997	ENSG00000230522			Mbd3l2 (MGI:2158460)
chr19	7112265	7294414	19p13.2	19p13.2	147670	INSR, HHF5	Insulin receptor	INSR	3643	ENSG00000171105	1 gene for alpha and beta subunits	Rabson-Mendenhall syndrome, 262190 (3), Autosomal recessive; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Donohue syndrome, 246200 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3), Autosomal dominant	Insr (MGI:96575)
chr19	7348937	7479989	19p13.2	19p13.2	616432	ARHGEF18, KIAA0521, RP78	Rho guanine nucleotide exchange factor 18	ARHGEF18	23370	ENSG00000104880		Retinitis pigmentosa 78, 617433 (3), Autosomal recessive	Arhgef18 (MGI:2142567)
chr19	7476875	7494977	19p13.3	19p13.2	607583	PEX11G	Peroxisome biogenesis factor 11G	PEX11G	92960	ENSG00000104883			Pex11g (MGI:1920905)
chr19	7513880	7521025	19p13.2	19p13.2	619496	ZNF358, ZFEND	Zinc finger protein 358	ZNF358	140467	ENSG00000198816			Zfp358 (MGI:2153740)
chr19	7522624	7534009	19p13.3-p13.2	19p13.2	605248	MCOLN1, ML4, LECD	Mucolipin 1	MCOLN1	57192	ENSG00000090674		Lisch epithelial corneal dystrophy, 620763 (3), Autosomal dominant; Mucolipidosis IV, 252650 (3), Autosomal recessive	Mcoln1 (MGI:1890498)
chr19	7534164	7561767	19p13.3	19p13.2	603197	PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS	Patatin-like phospholipase domain-containing protein 6	PNPLA6	10908	ENSG00000032444	mutation identified in 1 LMNS family	Spastic paraplegia 39, autosomal recessive, 612020 (3), Autosomal recessive; Oliver-McFarlane syndrome, 275400 (3), Autosomal recessive; ?Laurence-Moon syndrome, 245800 (3), Autosomal recessive; Boucher-Neuhauser syndrome, 215470 (3), Autosomal recessive	Pnpla6 (MGI:1354723)
chr19	7595863	7618304	19p13.2	19p13.2	612685	CAMSAP3, NEZHA, KIAA1543	Calmodulin-regulated spectrin-associated protein 3	CAMSAP3	57662	ENSG00000076826			Camsap3 (MGI:1916947)
chr19	7619525	7629545	19p13.2	19p13.2	610850	XAB2	XPA-binding protein 2	XAB2	56949	ENSG00000076924			Xab2 (MGI:1914689)
chr19	7629793	7631956	19p13.2	19p13.2	614770	PET100, C19orf79, MC4DN12	PET100 cytochrome c oxidase chaperone	PET100	100131801	ENSG00000229833		Mitochondrial complex IV deficiency, nuclear type 12, 619055 (3), Autosomal recessive	Pet100 (MGI:3615306)
chr19	7629793	7647873	19p13.3-p13.2	19p13.2	601717	STXBP2, UNC18B, FHL5	Syntaxin binding protein 2	STXBP2	6813	ENSG00000076944		Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease, 613101 (3), Autosomal recessive	Stxbp2 (MGI:107370)
chr19	7631615	7637006	19p13.2	19p13.2	619344	PCP2, PCD5	Purkinje cell protein 2	PCP2	126006	ENSG00000174788			Pcp2 (MGI:97508)
chr19	7669049	7670455	19p13.2	19p13.2	605565	RETN, RSTN, FIZZ3	Resistin	RETN	56729	ENSG00000104918		{Hypertension, insulin resistance-related, susceptibility to}, 125853 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant	Retn (MGI:1888506)
chr19	7677090	7679829	19p13.3	19p13.2	609565	MCEMP1	Mast cell-expressed membrane protein 1	MCEMP1	199675	ENSG00000183019			Mcemp1 (MGI:1916439)
chr19	7688776	7702131	19p13.3	19p13.2	151445	FCER2, FCE2, CD23, CLEC4J	Fc fragment of IgE, low affinity II, receptor for (CD23A)	FCER2	2208	ENSG00000104921			Fcer2a (MGI:95497)
chr19	7728957	7732110	19p13.3	19p13.2	616256	CLEC4G, LSECTIN	C-type lectin domain family 4, member G	CLEC4G	339390	ENSG00000182566			Clec4g (MGI:1923113)
chr19	7739993	7747534	19p13.3	19p13.2	604672	CD209, CDSIGN	CD209 antigen	CD209	30835	ENSG00000090659		{HIV type 1, susceptibility to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3); {Dengue fever, protection against}, 614371 (3)	Cd209a,Cd209b,Cd209c,Cd209d,Cd209e (MGI:1916415,MGI:2157942,MGI:2157945,MGI:2157947,MGI:2157948)
chr19	7763243	7769605	19p13.3	19p13.2	605872	CLEC4M, CD209L, LSIGN, DCSIGNR	C-type lectin domain family 4, member M	CLEC4M	10332	ENSG00000104938			Cd209a,Cd209b (MGI:1916415,MGI:2157942)
chr19	7888510	7902016	19p13.2	19p13.2	612891	LRRC8E	Leucine-rich repeat-containing protein 8E	LRRC8E	80131	ENSG00000171017			Lrrc8e (MGI:1919517)
chr19	7903877	7914478	19p13.2	19p13.2	603014	MAP2K7, PRKMK7, MKK7, JNKK2, MAPKK7	Mitogen-activated protein kinase kinase 7	MAP2K7	5609	ENSG00000076984			Map2k7 (MGI:1346871)
chr19	7920338	7923250	19p13.2	19p13.2	605076	SNAPC2, SNAP45	Small nuclear RNA-activating protein complex, polypeptide 2	SNAPC2	6618	ENSG00000104976			Snapc2 (MGI:1914861)
chr19	7924491	7926135	19p13.2	19p13.2	600135	CTXN1, CTXN	Cortexin 1	CTXN1	404217	ENSG00000178531			Ctxn1 (MGI:88566)
chr19	7926718	7943666	19p13.3-p13.2	19p13.2	605058	TIMM44	Translocase of inner mitochondrial membrane 44	TIMM44	10469	ENSG00000104980			Timm44 (MGI:1343262)
chr19	7958573	8005641	19p13.2	19p13.2	603466	ELAVL1, HUR	ELAV-like RNA binding protein 1	ELAVL1	1994	ENSG00000066044			Elavl1 (MGI:1100851)
chr19	8052341	8062650	19p13.2	19p13.2	602565	CCL25, SCYA25, TECK	Chemokine, C-C motif, ligand 25	CCL25	6370	ENSG00000131142			Ccl25 (MGI:1099448)
chr19	8065402	8149592	19p13.2	19p13.2	608529	FBN3, KIAA1776	Fibrillin 3	FBN3	84467	ENSG00000142449			
chr19	8209370	8262421	19p13.2	19p13.2	615334	CERS4, LASS4, TRH1	Ceramide synthase 4	CERS4	79603	ENSG00000090661			Cers4 (MGI:1914510)
chr19	8302127	8308358	19p13.2	19p13.2	606475	CD320, 8D6, 8D6A, TCBLR	CD320 molecule	CD320	51293	ENSG00000167775		Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3), Autosomal recessive	Cd320 (MGI:1860083)
chr19	8308595	8321375	19p13.2	19p13.2	602139	NDUFA7	NADH-ubiquinone oxidoreductase subunit A7	NDUFA7	4701	ENSG00000267855	previously assigned to 20p13		Ndufa7 (MGI:1913666)
chr19	8321496	8323340	19p13.2	19p13.2	603685	RPS28, DBA15	Ribosomal protein S28	RPS28	6234	ENSG00000233927		Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3), Autosomal dominant	Rps28 (MGI:1859516)
chr19	8322584	8343262	19p13.2	19p13.2	614611	KANK3	KN motif- and ankyrin repeat domain-containing protein 3	KANK3	256949	ENSG00000186994			Kank3 (MGI:1098615)
chr19	8364155	8374370	19p13.3	19p13.2	605910	ANGPTL4, PGAR, HFARP, FIAF, TGQTL	Angiopoietin-like 4	ANGPTL4	51129	ENSG00000167772		Plasma triglyceride level QTL, low, 615881 (3), Autosomal dominant	Angptl4 (MGI:1888999)
chr19	8390360	8404434	19p13.2	19p13.2	604198	RAB11B, NDAGSCW	Ras-associated protein RAB11B	RAB11B	9230	ENSG00000185236		Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3), Autosomal dominant	Rab11b (MGI:99425)
chr19	8413305	8439017	19p13.2	19p13.2	613332	MARCH2	Membrane-associated RING-CH finger protein 2	MARCHF2	51257	ENSG00000099785			Marchf2 (MGI:1925915)
chr19	8444975	8489114	19p13.3-p13.2	19p13.2	160994	HNRPM, HNRPM4, NAGR1	Heterogeneous nuclear ribonucleoprotein M	HNRNPM	4670	ENSG00000099783			Hnrnpm (MGI:1926465)
chr19	8490056	8502640	19p13.2	19p13.2	606466	PRAM1	PML-RARA target gene encoding an adaptor molecule 1	PRAM1	84106	ENSG00000133246			Pram1 (MGI:3576625)
chr19	8509678	8514167	19p13.2	19p13.2	620980	ZNF414	Zinc finger protein 414	ZNF414	84330	ENSG00000133250			Zfp414 (MGI:1915641)
chr19	8520778	8577442	19p13.3-p13.2	19p13.2	601480	MYO1F	Myosin IF	MYO1F	4542	ENSG00000142347			Myo1f (MGI:107711)
chr19	8580240	8610715	19p13.3-p13.2	19p13.2	608990	ADAMTS10, WMS1	ADAM metallopeptidase domain with thrombospondin type 1 motif, 10	ADAMTS10	81794	ENSG00000142303		Weill-Marchesani syndrome 1, recessive, 277600 (3), Autosomal recessive	Adamts10 (MGI:2449112)
chr19	8697400	8698795	19p13.2	19p13.2	619251	ACTL9, SPGF53	Actin-like 9	ACTL9	284382	ENSG00000181786		Spermatogenic failure 53, 619258 (3), Autosomal recessive	Actl9 (MGI:1916731)
chr19	8832377	8843319	19p13.2	19p13.2	607963	MBD3L1	Methyl-CpG binding domain protein 3-like 1	MBD3L1	85509	ENSG00000170948			Mbd3l1 (MGI:1920753)
chr19	8848844	9065751	19p13.2	19p13.2	606154	MUC16, CA125	Mucin 16	MUC16	94025	ENSG00000181143			Muc16 (MGI:1920982)
chr19	9140397	9163413	19p13	19p13.2	613864	ZNF317, KIAA1588	Zinc finger protein 317	ZNF317	57693	ENSG00000130803			Zfp317 (MGI:107775)
chr19	9210276	9219589	19p13.2	19p13.2	611538	OR7D4, OR19B	Olfactory receptor, family 7, subfamily D, member 4	OR7D4	125958	ENSG00000174667			Or7d10,Or7d11,Or7d9 (MGI:1313142,MGI:2153206,MGI:3030701)
chr19	9291140	9309838	19p13.2	19p13.2	609571	ZNF699, FLJ38144, DEGCAGS	Zinc finger protein 699	ZNF699	374879	ENSG00000196110		DEGCAGS syndrome, 619488 (3), Autosomal recessive	
chr19	9363013	9382617	19p13	19p13.2	601276	ZNF177	Zinc finger protein 177	ZNF177	7730	ENSG00000188629			
chr19	9412429	9435573	19p13.2	19p13.2	604751	ZNF266, HZF1	Zinc finger protein-266	ZNF266	10781	ENSG00000174652			Zfp266 (MGI:1924769)
chr19	9560329	9584504	19p	19p13.2	194628	ZNF121, D19S204	Zinc finger protein-121 (clone ZHC32)	ZNF121	7675	ENSG00000197961			
chr19	9810270	9819079	19p13.2	19p13.2	609079	FBXL12, FBL12	F-box and leucine-rich repeat protein 12	FBXL12	54850	ENSG00000127452			Fbxl12 (MGI:1354738)
chr19	9827918	9830115	19p13.2	19p13.2	606849	UBL5, HUB1	Ubiquitin-like 5	UBL5	59286	ENSG00000198258	pseudogene on 17p11.2		Ubl5 (MGI:1913427)
chr19	9835318	9849689	19p13	19p13.2	601052	PIN1, DOD	Peptidyl-prolyl cis/trans isomerase, NIMA-interacting	PIN1	5300	ENSG00000127445			Pin1,Pin1rt1 (MGI:1346036,MGI:3649546)
chr19	9853718	9936515	19p13.2	19p13.2	617492	OLFM2, NOE2	Olfactomedin 2	OLFM2	93145	ENSG00000105088			Olfm2 (MGI:3045350)
chr19	9959561	10010504	19p13.2	19p13.2	120216	COL5A3	Collagen, type V, alpha-3 polypeptide	COL5A3	50509	ENSG00000080573			Col5a3 (MGI:1858212)
chr19	10013483	10022279	19p13	19p13.2	608575	RDH8, PRRDH	Retinol dehydrogenase 8	RDH8	50700	ENSG00000080511			Rdh8 (MGI:2685028)
chr19	10086317	10093243	19p13.2	19p13.2	616808	SHFL, C19orf66, RYDEN	Shiftless antiviral inhibitor of ribosomal frameshifting	SHFL	55337	ENSG00000130813			Shfl (MGI:2441788)
chr19	10092338	10106190	19p13.2	19p13.2	609336	ANGPTL6, AGF	Angiopoietin-like 6	ANGPTL6	83854	ENSG00000130812			Angptl6 (MGI:1917976)
chr19	10106223	10112012	19p13	19p13.2	607793	PPAN, SSF1	Peter pan, Drosophila, homolog of	PPAN	56342	ENSG00000130810	fuses with P2RY11		Ppan (MGI:2178445)
chr19	10111693	10115372	19p13	19p13.2	602697	P2RY11	Purinergic receptor P2Y, G protein-coupled, 11	P2RY11	5032	ENSG00000244165	fuses with PPAN		
chr19	10115014	10119899	19p13.2	19p13.2	603913	EIF3G, EIF3S4	Eukaryotic translation initiation factor 3, subunit G	EIF3G	8666	ENSG00000130811			Eif3g (MGI:1858258)
chr19	10133346	10194953	19p13.3-p13.2	19p13.2	126375	DNMT1, MCMT, HSN1E, ADCADN	DNA methyltransferase 1	DNMT1	1786	ENSG00000130816		Neuropathy, hereditary sensory, type IE, 614116 (3), Autosomal dominant; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3), Autosomal dominant	Dnmt1 (MGI:94912)
chr19	10221433	10231331	19p13.2	19p13.2	605111	S1PR2, EDG5, DFNB68	Sphingosine-1-phosphate receptor 2	S1PR2	9294	ENSG00000267534		Deafness, autosomal recessive 68, 610419 (3), Autosomal recessive	S1pr2 (MGI:99569)
chr19	10251951	10260055	19p13.2	19p13.2	611823	MRPL4	Mitochondrial ribosomal protein L4	MRPL4	51073	ENSG00000105364			Mrpl4 (MGI:2137210)
chr19	10271120	10286615	19p13.3-p13.2	19p13.2	147840	ICAM1	Intercellular adhesion molecule-1	ICAM1	3383	ENSG00000090339	close to Ldlr in mouse	{Malaria, cerebral, susceptibility to}, 611162 (3)	Icam1 (MGI:96392)
chr19	10286955	10288520	19p13.3	19p13.2	614088	ICAM4, CD242, LW	Intracellular adhesion molecule 4	ICAM4	3386	ENSG00000105371	close to C3, LU	[Blood group, Landsteiner-Wiener], 111250 (3)	Icam4 (MGI:1925619)
chr19	10289952	10296778	19p13.2	19p13.2	601852	ICAM5, TLCN, TLN	Intercellular adhesion molecule 5 (telencephalin)	ICAM5	7087	ENSG00000105376			Icam5 (MGI:109430)
chr19	10304803	10309815	19p13.2	19p13.2	611639	ZGLP1, GLP1	Zinc finger GATA-like protein 1	ZGLP1	100125288	ENSG00000220201			Zglp1 (MGI:3696042)
chr19	10310045	10316015	19p13.2	19p13.2	614585	FDX2, FDX1L, MEOAL	Ferredoxin 2	FDX2	112812	ENSG00000267673		Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3), Autosomal recessive	Fdx2 (MGI:1915415)
chr19	10316212	10333529	19p13.2	19p13.2	609950	RAVER1, KIAA1978	Ribonucleoprotein, PTB binding 1	RAVER1	125950	ENSG00000161847			Raver1 (MGI:1919016)
chr19	10333776	10339624	19p13.3-p13.2	19p13.2	146631	ICAM3, CDW50	Intercellular adhesion molecule-3	ICAM3	3385	ENSG00000076662			
chr19	10350533	10380572	19p13.2	19p13.2	176941	TYK2, IMD35	Tyrosine kinase 2	TYK2	7297	ENSG00000105397		Immunodeficiency 35, 611521 (3), Autosomal recessive	Tyk2 (MGI:1929470)
chr19	10391133	10403542	19p13.2	19p13.2	605065	CDC37	Cell division cycle 37, HSP90 cochaperone	CDC37	11140	ENSG00000105401			Cdc37 (MGI:109531)
chr19	10416773	10469631	19p13.2	19p13.2	600126	PDE4A, DPDE2	Phosphodiesterase-4A, cAMP-specific (dunce, Drosophila, homolog phosphodiesterase E2)	PDE4A	5141	ENSG00000065989			Pde4a (MGI:99558)
chr19	10486125	10503356	19p13.2	19p13.2	606016	KEAP1, KIAA0132	Kelch-like ECH-associated protein 1	KEAP1	9817	ENSG00000079999			Keap1 (MGI:1858732)
chr19	10512742	10517965	19p13.2	19p13.2	605146	S1PR5, EDG8	Sphingosine-1-phosphate receptor 5	S1PR5	53637	ENSG00000180739			S1pr5 (MGI:2150641)
chr19	10543904	10553418	19p13.2	19p13.2	611340	ATG4D, APG4D, AUTL4	Autophagy related 4D cysteine peptidase	ATG4D	84971	ENSG00000130734			Atg4d (MGI:2444308)
chr19	10566460	10568979	19p13	19p13.2	600927	CDKN2D	Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	CDKN2D	1032	ENSG00000129355	possible tumor suppressor		Cdkn2d (MGI:105387)
chr19	10572671	10587312	19p13.2	19p13.2	607309	AP1M2, MU1B	Adaptor-related protein complex 1, mu-2 subunit	AP1M2	10053	ENSG00000129354			Ap1m2 (MGI:1336974)
chr19	10602455	10644557	19p13.1	19p13.2	606106	SLC44A2, CTL2	Solute carrier family 44, member 2	SLC44A2	57153	ENSG00000129353			Slc44a2 (MGI:1915932)
chr19	10654346	10692400	19p13	19p13.2	603182	ILF3, NF90, DRBP76, MPHOSPH4, NFAR	Interleukin enhancer-binding factor 3	ILF3	3609	ENSG00000129351			Ilf3 (MGI:1339973)
chr19	10701439	10713365	19p13.2	19p13.2	609615	QTRT1, TGT	Queuine tRNA-ribosyltransferase 1	QTRT1	81890	ENSG00000213339			Qtrt1 (MGI:1931441)
chr19	10718079	10831903	19p13.2	19p13.2	602378	DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5	Dynamin-2	DNM2	1785	ENSG00000079805	1 LCCS5 family identified with mutation	Centronuclear myopathy 1, 160150 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3), Autosomal dominant; Lethal congenital contracture syndrome 5, 615368 (3), Autosomal recessive	Dnm2 (MGI:109547)
chr19	10817426	10817496	19p13.2	19p13.2	610719	MIR199A1, MIRN199A1	Micro RNA 199A1	MIR199A1	406976	ENSG00000207752			Mir199a-1 (MGI:2676863)
chr19	10832067	10836212	19p13.2	19p13.2	605395	TMED1, IL1RL1LG	Transmembrane p24 trafficking protein 1 (interleukin-1 receptor-like 1 ligand)	TMED1	11018	ENSG00000099203			Tmed1 (MGI:106201)
chr19	10871553	10923075	19p13.2	19p13.2	603934	CARM1, PRMT4	Coactivator-associated arginine methyltransferase 1	CARM1	10498	ENSG00000142453			Carm1 (MGI:1913208)
chr19	10922193	10928639	19p13.2	19p13.2	617522	YIPF2	YIP1 domain family, member 2	YIPF2	78992	ENSG00000130733			Yipf2 (MGI:1922016)
chr19	10928811	10930254	19p13.2	19p13.2	617380	TIMM29, C19orf52	Translocase of inner mitochondrial membrane 29	TIMM29	90580	ENSG00000142444			Timm29 (MGI:1917023)
chr19	10961030	11062273	19p13.2	19p13.2	603254	SMARCA4, BRG1, RTPS2, MRD16, CSS4, OTSC12	SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4	SMARCA4	6597	ENSG00000127616	mutation identified in 1 OTSC12 family	Coffin-Siris syndrome 4, 614609 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 2}, 613325 (3), Autosomal dominant; ?Otosclerosis 12, 620792 (3), Autosomal dominant	Smarca4 (MGI:88192)
chr19	11089463	11133820	19p13.2	19p13.2	606945	LDLR, FHCL1, FHC, FH, LDLCQ2	Low density lipoprotein receptor	LDLR	3949	ENSG00000130164	~20cM distal to C3	LDL cholesterol level QTL2, 143890 (3), Autosomal recessive, Autosomal dominant; Hypercholesterolemia, familial, 1, 143890 (3), Autosomal recessive, Autosomal dominant	Ldlr (MGI:96765)
chr19	11145493	11155782	19p13.2	19p13.2	609394	SPC24, SPBC24	SPC24, NDC80 kinetochore complex component	SPC24	147841	ENSG00000161888			Spc24 (MGI:1914879)
chr19	11164270	11197865	19p13.2	19p13.2	614610	KANK2, ANKRD25, KIAA1518, PPKWH, NPHS16	KN motif- and ankyrin repeat domain-containing protein 2	KANK2	25959	ENSG00000197256		Nephrotic syndrome, type 16, 617783 (3), Autosomal recessive; Palmoplantar keratoderma and woolly hair, 616099 (3), Autosomal recessive	Kank2 (MGI:2384568)
chr19	11199295	11262524	19p13.2	19p13.2	614194	DOCK6, KIAA1395, AOS2	Dedicator of cytokinesis 6	DOCK6	57572	ENSG00000130158		Adams-Oliver syndrome 2, 614219 (3), Autosomal recessive	Dock6 (MGI:1914789)
chr19	11239619	11241943	19p13.2	19p13.2	616223	ANGPTL8, C19orf80, LIPASIN	Angiopoietin-like protein 8	ANGPTL8	55908	ENSG00000130173	within intron of DOCK6		Angptl8 (MGI:3643534)
chr19	11296160	11326996	9q34	19p13.2	617580	TSPAN16, TM4SF16	Tetraspanin 16	TSPAN16	26526	ENSG00000130167			
chr19	11322068	11339657	19p13.2	19p13.2	604350	RAD3D, GOV	Ras family, member RAB3D	RAB3D	9545	ENSG00000105514			Rab3d (MGI:97844)
chr19	11342778	11346492	19p13.2	19p13.2	613771	TMEM205	Transmembrane protein 205	TMEM205	374882	ENSG00000105518			Tmem205 (MGI:3045495)
chr19	11355432	11365698	19p13.2	19p13.2	619591	PLPPR2, PRG4	Phospholipid phosphatase-related protein 2	PLPPR2	64748	ENSG00000105520			Plppr2 (MGI:2384575)
chr19	11374666	11376169	19p13.2	19p13.2	614536	SWSAP1, ZSWIM7AP1, C19orf39	SWIM-type zinc finger domain-containing protein 7-associated protein 1	SWSAP1	126074	ENSG00000173928			Swsap1 (MGI:1914212)
chr19	11377207	11384314	19p13.3-p13.2	19p13.2	133171	EPOR	Erythropoietin receptor	EPOR	2057	ENSG00000187266		[Erythrocytosis, familial, 1], 133100 (3), Autosomal dominant	Epor (MGI:95408)
chr19	11394060	11419314	19p13.2	19p13.2	616743	RGL3	Ral guanine nucleotide dissociation stimulator-like 3	RGL3	57139	ENSG00000205517			Rgl3 (MGI:1918996)
chr19	11420605	11435782	19p13.2	19p13.2	615956	ODAD2, CCDC151, CILD30	Outer dynein arm docking complex subunit 3	ODAD3	115948	ENSG00000198003		Ciliary dyskinesia, primary, 30, 616037 (3), Autosomal recessive	Odad3 (MGI:1924859)
chr19	11435635	11450968	19p13.2-p13.1	19p13.2	177060	PRKCSH, G19P1, PCLD1	Protein kinase C substrate 80K-H	PRKCSH	5589	ENSG00000130175		Polycystic liver disease 1, 174050 (3), Autosomal dominant	Prkcsh (MGI:107877)
chr19	11451326	11481046	19p13.2	19p13.2	603458	ELAVL3, HUC, PLE21	ELAV-like RNA binding protein 3	ELAVL3	1995	ENSG00000196361	centromeric to ELAVL1		Elavl3 (MGI:109157)
chr19	11483429	11505839	19p13.2	19p13.2	611371	ZNF653, ZIP67	Zinc finger protein 653	ZNF653	115950	ENSG00000161914			Zfp653 (MGI:2442362)
chr19	11505929	11529134	19p13.2	19p13.2	608388	ECSIT, SITPEC	ECSIT signaling integrator	ECSIT	51295	ENSG00000130159			Ecsit (MGI:1349469)
chr19	11538851	11550323	19p13.2	19p13.2	600806	CNN1, SMCC	Calponin 1	CNN1	1264	ENSG00000130176			Cnn1 (MGI:104979)
chr19	11553046	11559230	19p13.2	19p13.2	619818	ELOF1, ELF1	Elongation factor 1	ELOF1	84337	ENSG00000130165			Elof1 (MGI:1913376)
chr19	11574660	11578975	19p13.3-p13.1	19p13.2	171640	ACP5, SPENCDI	Acid phosphatase 5, tartrate resistant	ACP5	54	ENSG00000102575	incorrectly assigned to 15 by A	Spondyloenchondrodysplasia with immune dysregulation, 607944 (3), Autosomal recessive	Acp5 (MGI:87883)
chr19	11597483	11619161	19p13.2	19p13.2	612248	ZNF627	Zinc finger protein 627	ZNF627	199692	ENSG00000198551			Zfp867 (MGI:2681848)
chr19	11887782	11980222	19p13.2	19p13.2	194543	ZNF69	Zinc finger protein-69 (Cos5)	ZNF69	7620	ENSG00000198429	previously assigned to 22q11.2		
chr19	12131350	12140350	19p13.3-p13.2	19p13.2	194557	ZNF20, KOX13	Zinc finger protein-14 (KOX 6)	ZNF20	7568	ENSG00000132010			Gm11007,Gm14308,Gm14325,Gm14430,Gm14434,Gm2007,Gm2026,Gm4631,Gm4724 (MGI:3702412,MGI:3702417,MGI:3702875,MGI:3779223,MGI:3780177,MGI:3780195,MGI:3782813,MGI:3782904,MGI:3782921)
chr19	12163096	12189871	19p13.2-p13.12	19p13.2	604078	ZNF136	Zinc finger protein-136	ZNF136	7695	ENSG00000196646			Zfp867 (MGI:2681848)
chr19	12224686	12294883	19p13.2	19p13.2	194542	ZNF44, KOX7	Zinc finger protein-44 (KOX7)	ZNF44	51710	ENSG00000197857	previously assigned to 16p11		
chr19	12390016	12415084	19p13.2	19p13.2	619916	ZNF799, HIT40	Zinc finger protein 799	ZNF799	90576	ENSG00000196466			Zfp799 (MGI:2443934)
chr19	12429706	12441021	19p13.2	19p13.2	606697	ZK1	Zinc finger protein ZK1	ZNF443	10224	ENSG00000180855			Zfp709,Zfp882 (MGI:2384299,MGI:3642748)
chr19	12576100	12610813	19p13.2-p13.13	19p13.2-p13.13	620118	ZNF490, KIAA1198	Zinc finger protein 490	ZNF490	57474	ENSG00000188033			Gm10778,Gm14444,Gm4767,Zfp1006,Zfp866,Zfp930,Zfp936,Zfp937,Zfp958,Zfp998 (MGI:1919389,MGI:1924053,MGI:2385298,MGI:2675306,MGI:3584369,MGI:3642994,MGI:3644409,MGI:3644476,MGI:3652325,MGI:3809656)
chr19	12600001	19900000	19p13.1		609753	CELIAC4	Celiac disease, susceptibility to, 4				associated with rs2305764	{Celiac disease, susceptibility to, 4}, 609753 (3), Multifactorial	
chr19	12600001	13800000	19p13.13		613638	DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13	Chromosome 19p13.13 deletion syndrome (Chromosome 19p13.13 duplication syndrome)				contiguous gene syndrome	Chromosome 19p13.13 deletion syndrome, 613638 (4), Isolated cases; Chromosome 19p13.13 duplication syndrome, 613638 (4), Isolated cases	
chr19	12600001	24200000	19p13.1-p12		603992	ZNF110	Zinc finger protein-110						
chr19	12600001	24200000	19p13.1-p12		603993	ZNF111	Zinc finger protein-111						
chr19	12600001	24200000	19p13.1-p12		603995	ZNF113	Zinc finger protein-113				?13q21		
chr19	12600001	24200000	19p13.1-p12		603997	ZNF118	Zinc finger protein-118				?13q21		
chr19	12600001	24200000	19p13.1-p12		603998	ZNF119	Zinc finger protein-119						
chr19	12600001	24200000	19p13.1-p12		603999	ZNF120	Zinc finger protein-120						
chr19	12600001	24200000	19p13.1-p12		604000	ZNF122	Zinc finger protein-122						
chr19	12600001	24200000	19p13.1-p12		603976	ZNF94	Zinc finger protein-94						
chr19	12646512	12666742	19cen-q12	19p13.13	609458	MAN2B1, MANB	Mannosidase, alpha, class 2B, member 1	MAN2B1	4125	ENSG00000104774		Mannosidosis, alpha-, types I and II, 248500 (3), Autosomal recessive	Man2b1 (MGI:107286)
chr19	12666807	12675832	19p13.13	19p13.13	616850	WDR83, MORG1	WD repeat-containing protein 83	WDR83	84292	ENSG00000123154			Wdr83 (MGI:1915086)
chr19	12668073	12669415	19p13.3	19p13.13	618474	WDR83OS, C19orf56, ASTERIX, NEDFHCA	WDR83 opposite strand	WDR83OS	51398	ENSG00000105583		Neurodevelopmental disorder with variable familial hypercholanemia, 621016 (3), Autosomal recessive	Wdr83os (MGI:3041257)
chr19	12672470	12681880	19p13.12-p13.11	19p13.13	600944	DHPS, NEDSSWI	Deoxyhypusine synthase	DHPS	1725	ENSG00000095059		Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 (3), Autosomal recessive	Dhps (MGI:2683592)
chr19	12688916	12696631	19p13.2	19p13.13	609074	FBXW9, FBW9	F-box and WD40 domain protein 9	FBXW9	84261	ENSG00000132004			Fbxw9 (MGI:1915878)
chr19	12699201	12723932	19p13.13	19p13.13	603002	TNPO2, TRN2, KPNB2B, IDDHISD	Transportin 2	TNPO2	30000	ENSG00000105576		Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, 619556 (3), Autosomal dominant	Tnpo2 (MGI:2384849)
chr19	12737106	12748323	19q13.3	19p13.13	601913	GET3, ASNA1, ARSA1, CMD2H	Guided entry of tail-anchored proteins factor 3, ATPase	GET3	439	ENSG00000198356	mutation identified in 1 CMD2H family	?Cardiomyopathy, dilated, 2H, 620203 (3), Autosomal recessive	Get3 (MGI:1928379)
chr19	12751791	12758458	19p13.2-p13.12	19p13.13	607335	BEST2, VMD2L1	Bestrophin 2	BEST2	54831	ENSG00000039987			Best2 (MGI:2387588)
chr19	12763003	12792350	19p13.13	19p13.13	607824	HOOK2, HK2	Hook, Drosophila, homolog of, 2	HOOK2	29911	ENSG00000095066			Hook2 (MGI:2181664)
chr19	12791486	12793315	19p13.2	19p13.13	165161	JUNB	Jun B protooncogene, AP-1 transcription factor subunit	JUNB	3726	ENSG00000171223			Junb (MGI:96647)
chr19	12796823	12801800	19p13.2	19p13.13	600538	PRDX2, PRX2, TDPX1, PTX1, NKEFB	Peroxiredoxin 2	PRDX2	7001	ENSG00000167815	prev. mapped to chr.13		Prdx2 (MGI:109486)
chr19	12806584	12813640	19p13.13	19p13.13	606034	RNASEH2A, RNHIA, AGS4	Ribonuclease H2, large subunit	RNASEH2A	10535	ENSG00000104889		Aicardi-Goutieres syndrome 4, 610333 (3), Autosomal recessive	Rnaseh2a (MGI:1916974)
chr19	12825482	12835428	19p13	19p13.13	609553	RTBDN	Retbindin	RTBDN	83546	ENSG00000132026			Rtbdn (MGI:2443686)
chr19	12838515	12874952	19p13.2	19p13.13	612256	MAST1, SAST, KIAA0973, MCCCHCM	Microtubule-associated serine/threonine kinase 1	MAST1	22983	ENSG00000105613		Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3), Autosomal dominant	Mast1 (MGI:1861901)
chr19	12875209	12881449	19p13.2-q13.4	19p13.13	126350	DNASE2, DNL, AIPCS	Deoxyribonuclease II, lysosomal	DNASE2	1777	ENSG00000105612		Autoinflammatory-pancytopenia syndrome, 619858 (3), Autosomal recessive	Dnase2a (MGI:1329019)
chr19	12884422	12887201	19p13.13-p13.12	19p13.13	600599	KLF1, EKLF, INLU, HBFQTL6, CDAN4A, CDAN4B	Kruppel-like factor 1, erythroid	KLF1	10661	ENSG00000105610		Blood group--Lutheran inhibitor, 111150 (3), Autosomal dominant; [Hereditary persistence of fetal hemoglobin], 613566 (3), Autosomal dominant; Anemia, dyserythropoietic congenital, type IVa, 613673 (3), Autosomal dominant; Anemia, congenital dyserythropoietic, type IVb, 620969 (3), Autosomal recessive	Klf1 (MGI:1342771)
chr19	12891129	12899999	19p13.2	19p13.13	608801	GCDH	Glutaryl-Coenzyme A dehydrogenase	GCDH	2639	ENSG00000105607		Glutaricaciduria, type I, 231670 (3), Autosomal recessive	Gcdh (MGI:104541)
chr19	12898786	12919293	19p13.13	19p13.13	611487	SYCE2, CESC1	Synaptonemal complex central element protein 2	SYCE2	256126	ENSG00000161860			Syce2 (MGI:1919096)
chr19	12922479	12933711	19p13.2	19p13.13	602918	FARSA, CML33, RILDBC2	Phenylalanine-tRNA synthetase, alpha subunit	FARSA	2193	ENSG00000179115	mutation identified in 1 RILDBC2	?Rajab interstitial lung disease with brain calcifications 2, 619013 (3), Autosomal recessive	Farsa (MGI:1913840)
chr19	12938609	12944489	19p13.2	19p13.13	109091	CALR, SSA	Sicca syndrome antigen A (autoantigen Ro; calreticulin)	CALR	811	ENSG00000179218	distal to C3, near LDLR	Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3)	Calr (MGI:88252)
chr19	12945862	12953642	19p13.2	19p13.13	600061	RAD23A, HHR23A	RAD23 homolog A, nucleotide excision repair protein	RAD23A	5886	ENSG00000179262			Rad23a (MGI:105126)
chr19	12953119	12957223	19p13.13	19p13.13	605162	GADD45GIP1, PRG6, CRIF1	Growth arrest- and DNA damage-inducible DABB45G-interacting protein	GADD45GIP1	90480	ENSG00000179271			Gadd45gip1 (MGI:1914947)
chr19	12969576	12974760	19p13.2-p13.13	19p13.13	609068	DAND5, CER2, CERL2, DANTE, COCO, HTX13	DAN domain family, member 5	DAND5	199699	ENSG00000179284		Heterotaxy, visceral, 13, autosomal, 621079 (3), Autosomal recessive	Dand5 (MGI:1344365)
chr19	12995475	13098796	19p13.3	19p13.13	164005	NFIX, NF1A, MALNS, MRSHSS	Nuclear factor I/X (CCAAT-binding transcription factor)	NFIX	4784	ENSG00000008441		Marshall-Smith syndrome, 602535 (3), Autosomal dominant; Malan syndrome, 614753 (3), Autosomal dominant	Nfix (MGI:97311)
chr19	13099033	13102858	19p13.2-p13.1	19p13.13	151440	LYL1	Lymphoblastic leukemia derived sequence-1	LYL1	4066	ENSG00000104903		Leukemia, T-cell acute lymphoblastoid, 151440 (2)	Lyl1 (MGI:96891)
chr19	13104907	13116740	19p13.3	19p13.13	611669	TRMT1, TRM1, MRT68	tRNA methyltransferase 1	TRMT1	55621	ENSG00000104907		Intellectual developmental disorder, autosomal recessive 68, 618302 (3), Autosomal recessive	Trmt1 (MGI:1289155)
chr19	13116852	13141147	19p13.13	19p13.13	610672	NACC1, BTBD14B, NECFM	Nucleus accumbens-associated protein 1, BEN and BTB/POZ domains-containing	NACC1	112939	ENSG00000160877		Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3), Autosomal dominant	Nacc1 (MGI:1914080)
chr19	13144058	13150375	19p13.2	19p13.13	603765	STX10, SYN10	Syntaxin 10	STX10	8677	ENSG00000104915			
chr19	13150411	13154911	19p13.13	19p13.13	620036	IER2, ETR101, CHX1	Immediate-rearly response gene 2	IER2	9592	ENSG00000160888			Ier2 (MGI:104815)
chr19	13206442	13506479	19p13	19p13.13	601011	CACNA1A, CACNL1A4, SCA6, DEE42	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	CACNA1A	773	ENSG00000141837		Spinocerebellar ataxia 6, 183086 (3), Autosomal dominant; Episodic ataxia, type 2, 108500 (3), Autosomal dominant; Developmental and epileptic encephalopathy 42, 617106 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3), Autosomal dominant; Migraine, familial hemiplegic, 1, 141500 (3), Autosomal dominant	Cacna1a (MGI:109482)
chr19	13764522	13774282	19p13.2	19p13.13	615105	MRI1, MRDI	Methylthioribose-1-phosphate isomerase, S. cerevisiae, homolog of	MRI1	84245	ENSG00000037757			Mri1 (MGI:1915123)
chr19	13774456	13778773	19p13.13	19p13.13	620685	C19orf53	Chromosome 19 open reading frame 53	C19orf53	28974	ENSG00000104979			D8Ertd738e (MGI:1289231)
chr19	13795443	13832254	19p13.13-p13.12	19p13.13-p13.12	620539	ZSWIM4, FLJ00044	Zinc finger SWIM domain-containing protein 4	ZSWIM4	65249	ENSG00000132003			Zswim4 (MGI:2443726)
chr19	13836287	13836359	19p13.12	19p13.12	610724	MIR24-2, MIRN24-2	Micro RNA 24-2	MIR24-2	407013	ENSG00000284387			Mir24-2 (MGI:3618755)
chr19	13836440	13836517	19p13.12	19p13.12	612153	MIR27, MIRN27A	Micro RNA 27A	MIR27A	407018	ENSG00000207808			Mir27a (MGI:2676902)
chr19	13836587	13836659	19p13.13	19p13.12	607962	MIR23A, MIRN23A	Micro RNA 23a	MIR23A	407010	ENSG00000207980			Mir23a (MGI:2676897)
chr19	13862036	13880757	19p13.13	19p13.12	608229	NANOS3, NOS3	NANOS C2HC-type zinc finger 3	NANOS3	342977	ENSG00000187556			Nanos3 (MGI:2675387)
chr19	13874699	13874808	19p13.3	19p13.12	612746	MIR181C, MIRN181C	Micro RNA 181C	MIR181C	406957	ENSG00000207613			Mir181c (MGI:3618737)
chr19	13882348	13906117	19p13.12	19p13.12	619276	BRME1, C19orf57, MEIOK21	Break repair meiotic recombinase recruitment factor 1	BRME1	79173	ENSG00000132016			Brme1 (MGI:1921916)
chr19	13906201	13930879	19p13.12	19p13.12	610055	CC2D1A, MRT3	Coiled-coil and C2 domain-containing 1A	CC2D1A	54862	ENSG00000132024		Intellectual developmental disorder, autosomal recessive 3, 608443 (3), Autosomal recessive	Cc2d1a (MGI:2384831)
chr19	13931187	13953383	19p13.12	19p13.12	621043	PODNL1	Podocan-like 1	PODNL1	79883	ENSG00000132000			Podnl1 (MGI:2685352)
chr19	13952509	13961449	19p13.12	19p13.12	620109	DCAF15	DDB1- and CUL4-associated factor 15	DCAF15	90379	ENSG00000132017			Dcaf15 (MGI:2684420)
chr19	13961530	14006816	19p13.1	19p13.12	600006	RFX1	Regulatory factor (trans-acting) 1 (influences HLA class II expression)	RFX1	5989	ENSG00000132005			Rfx1 (MGI:105982)
chr19	14028148	14031551	19p13.3	19p13.12	606855	RLN3, H3, RXN3	Relaxin 3	RLN3	117579	ENSG00000171136			Rln3 (MGI:2158015)
chr19	14031762	14053218	19p13.11	19p13.12	605350	TCCR, WSX1	T-cell cytokine receptor	IL27RA	9466	ENSG00000104998			Il27ra (MGI:1355318)
chr19	14053367	14062076	19p13.12	19p13.12	621051	PALM3	Paralemmin 3	PALM3	342979	ENSG00000187867			Palm3 (MGI:1921587)
chr19	14087851	14090751	19p13.13	19p13.12	620206	SAMD1, ATHERIN	Sterile alpha motif-domain containing protein 1	SAMD1	90378	ENSG00000141858			Samd1 (MGI:2142433)
chr19	14091688	14117762	19p13.1	19p13.12	601639	PRKACA, CAFD1	Protein kinase, cAMP-dependent, catalytic, alpha	PRKACA	5566	ENSG00000072062		Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3); Cardioacrofacial dysplasia 1, 619142 (3), Autosomal dominant	Prkaca (MGI:97592)
chr19	14119512	14136589	19p13.13	19p13.12	609190	ASF1B	Anti-silencing function 1B histone chaperone	ASF1B	55723	ENSG00000105011			Asf1b (MGI:1914179)
chr19	14147743	14206169	19p13.3	19p13.12	616416	ADGRL1, LPHN1, CIRL1, CL1, LEC2, KIAA0821, DEDBANP	Adhesion G protein-coupled receptor L1	ADGRL1	22859	ENSG00000072071		Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, 620065 (3), Autosomal dominant	Adgrl1 (MGI:1929461)
chr19	14381444	14408723	19p13.1	19p13.12	601211	ADGRE5, CD97	Adhesion G protein-coupled receptor E5	ADGRE5	976	ENSG00000123146			Adgre5 (MGI:1347095)
chr19	14408798	14419383	19p13.12	19p13.12	619906	DDX39A, URH49	DExD-box helicase 39A	DDX39A	10212	ENSG00000123136			Ddx39a (MGI:1915528)
chr19	14433306	14471859	19p12	19p13.12	601032	PKN1, PRKCL1, PRK1, PAK1	Protein kinase N1	PKN1	5585	ENSG00000123143			Pkn1 (MGI:108022)
chr19	14472466	14475354	19p13.1	19p13.12	176802	PTGER1	Prostaglandin E receptor 1, EP1 subtype, 42kD	PTGER1	5731	ENSG00000160951			Ptger1 (MGI:97793)
chr19	14477762	14496127	19p13.1	19p13.12	605072	GIPC1, RGS19IP1, C19orf3, OPDM2	GIPC PDZ domain-containing family member 1	GIPC1	10755	ENSG00000123159		Oculopharyngodistal myopathy 2, 618940 (3), Autosomal dominant	Gipc1 (MGI:1926252)
chr19	14514769	14560391	19p13.2	19p13.12	604572	DNAJB1, HSPF1	DnaJ, E. coli, homolog of, subfamily B, member 1 (heat-shock 40kD protein 1)	DNAJB1	3337	ENSG00000132002			Dnajb1 (MGI:1931874)
chr19	14527726	14565980	19p13.12	19p13.12	610057	TECR, GPSN2, TER, SC2, MRT14	Trans-2,3-enoyl-CoA reductase	TECR	9524	ENSG00000099797		Intellectual developmental disorder, autosomal recessive 14, 614020 (3), Autosomal recessive	Tecr (MGI:1915408)
chr19	14566078	14572066	19p13.12-p13.11	19p13.12	603842	NDUFB7, MC1DN39	NADH-ubiquinone oxidoreductase subunit B7	NDUFB7	4713	ENSG00000099795	mutation identified in 1 MC1DN39 family	?Mitochondrial complex I deficiency, nuclear type 39, 620135 (3), Autosomal recessive	Ndufb7 (MGI:1914166)
chr19	14580951	14612035	19p13.12	19p13.12	616838	CLEC17A	C-type lectin domain family 17, member A	CLEC17A	388512	ENSG00000187912			
chr19	14600117	14674844	19p13.1	19p13.12	606101	EMR3	EGF-like module-containing, mucin-like hormone receptor 3	ADGRE3	84658	ENSG00000131355			
chr19	14689787	14733742	19p13.1	19p13.12	611811	ZNF333, KIAA1806	Zinc finger protein 333	ZNF333	84449	ENSG00000160961			
chr19	14724171	14778560	19p13.1	19p13.12	606100	ADGRE2, EMR2, VBU	Adhesion G protein-coupled receptor E2	ADGRE2	30817	ENSG00000127507		Vibratory urticaria, 125630 (3), Autosomal dominant	Adgre5 (MGI:1347095)
chr19	14950033	15010643	19p13.12	19p13.12	600637	SLC1A6, EAAT4	Solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	SLC1A6	6511	ENSG00000105143			Slc1a6 (MGI:1096331)
chr19	15049480	15058293	19p13.1	19p13.12	605848	CASP14, ARCI12	Caspase 14, apoptosis-related cysteine protease	CASP14	23581	ENSG00000105141		Ichthyosis, congenital, autosomal recessive 12, 617320 (3), Autosomal recessive	Casp14 (MGI:1335092)
chr19	15107401	15114974	19p13.12	19p13.12	617377	SYDE1	Synapse defective Rho GTPase, C. elegans, homolog of, 1	SYDE1	85360	ENSG00000105137			Syde1 (MGI:1918959)
chr19	15114987	15125786	19p13.1	19p13.12	605770	ILVBL, AHAS	IlvB-like (acetolactate synthase, bacterial, homolog of)	ILVBL	10994	ENSG00000105135			Ilvbl (MGI:1351911)
chr19	15159038	15200995	19p13.2-p13.1	19p13.12	600276	NOTCH3, CADASIL1, CASIL, IMF2, LMNS	Notch, Drosophila, homolog of, 3	NOTCH3	4854	ENSG00000074181	mutation identified in 1 IMF2 family	Lateral meningocele syndrome, 130720 (3), Autosomal dominant; ?Myofibromatosis, infantile 2, 615293 (3), Autosomal dominant; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3), Autosomal dominant	Notch3 (MGI:99460)
chr19	15226919	15237008	19p13.12	19p13.12	617400	EPHX3, ABHD9	Epoxide hydrolase 3	EPHX3	79852	ENSG00000105131			Ephx3 (MGI:1919182)
chr19	15235519	15332539	19p13.1	19p13.12	608749	BRD4, CAP, HUNK1, CDLS6	Bromodomain-containing protein 4	BRD4	23476	ENSG00000141867	fused with NUT	Cornelia de Lange syndrome 6, 620568 (3), Autosomal dominant	Brd4 (MGI:1888520)
chr19	15353385	15379787	19p13.12	19p13.12	604692	AKAP8, AKAP95	A-kinase anchor protein 8	AKAP8	10270	ENSG00000105127			Akap8 (MGI:1928488)
chr19	15380050	15418988	19p13.12-p13.11	19p13.12	609475	AKAP8L, HA95, NAKAP, HAP95	A-kinase anchor protein 8-like protein	AKAP8L	26993	ENSG00000011243			Akap8l (MGI:1860606)
chr19	15419978	15449956	19p13.12	19p13.12	619715	WIZ	WIZ zinc finger protein	WIZ	58525	ENSG00000011451			Wiz (MGI:1332638)
chr19	15451624	15464544	19p13.12	19p13.12	616561	RASAL3	Ras protein activator-like 3	RASAL3	64926	ENSG00000105122			Rasal3 (MGI:2444128)
chr19	15468645	15479501	19p13.12	19p13.12	608199	PGRPL	Peptidoglycan recognition protein, long	PGLYRP2	114770	ENSG00000161031			Pglyrp2 (MGI:1928099)
chr19	15508525	15552317	19p13.12	19p13.12	611495	CYP4F22, ARCI5, LI3	Cytochrome P450, family 4, subfamily F, polypeptide 22	CYP4F22	126410	ENSG00000171954		Ichthyosis, congenital, autosomal recessive 5, 604777 (3), Autosomal recessive	Cyp4f39 (MGI:2445210)
chr19	15615218	15630639	19p13.1	19p13.12	611545	CYP4F8	Cytochrome P450, family 4, subfamily F, polypeptide 8	CYP4F8	11283	ENSG00000186526			Cyp4f14,Cyp4f15 (MGI:1927669,MGI:2146921)
chr19	15640897	15662825	19p13.2	19p13.12	601270	CYP4F3, LTB4H	Cytochrome P450, subfamily IVF, polypeptide 3	CYP4F3	4051	ENSG00000186529			Cyp4f13,Cyp4f18 (MGI:1919304,MGI:2158641)
chr19	15673087	15697174	19p13.1	19p13.12	611485	CYP4F12	Cytochrome P450, family 4, subfamily F, polypeptide 12	CYP4F12	66002	ENSG00000186204			Cyp4f14 (MGI:1927669)
chr19	15828947	15836321	19p13.12	19p13.12	617500	UCA1, LINC00178, CUDR	Urothelial cancer-associated gene 1	UCA1	652995	ENSG00000214049			
chr19	15878023	15898074	19p13.12	19p13.12	604426	CYP4F2	Cytochrome P450, family 4, subfamily F, polypeptide 2	CYP4F2	8529	ENSG00000186115			Cyp4f14,Cyp4f15,Cyp4f18 (MGI:1919304,MGI:1927669,MGI:2146921)
chr19	15912377	15934867	19p13.1	19p13.12	611517	CYP4F11	Cytochrome P450, family 4, subfamily F, polypeptide 11	CYP4F11	57834	ENSG00000171903			Cyp4f14,Cyp4f15,Cyp4f40 (MGI:1927669,MGI:2146921,MGI:3645508)
chr19	16067538	16103002	19p13.1	19p13.12-p13.11	600317	TPM4, BDPLT25	Tropomyosin 4	TPM4	7171	ENSG00000167460		Bleeding disorder, platelet-type, 25, 620486 (3), Autosomal dominant	Tpm4 (MGI:2449202)
chr19	16111889	16134234	19p13.2-cen	19p13.11	165040	RAB8A, MEL	Ras-associated protein RAB8A (oncogene MEL)	RAB8A	4218	ENSG00000167461			Rab8a (MGI:96960)
chr19	16134028	16158575	19q13.2	19p13.11	608349	HSH2D, ALX	Hemotopoietic SH2 domain-containing protein	HSH2D	84941	ENSG00000196684			Hsh2d (MGI:2676364)
chr19	16161368	16173525	19p13.11	19p13.11	610645	CIB3, KIP3	Calcium- and integrin-binding protein 3	CIB3	117286	ENSG00000141977			Cib3 (MGI:2685953)
chr19	16185410	16192046	19p13.12	19p13.11	614554	FAM32A, OTAG12	Family with sequence similarity 32, member A	FAM32A	26017	ENSG00000105058			Fam32a (MGI:1915172)
chr19	16197911	16245906	19p13.12	19p13.11	603535	AP1M1, AP47, CLAPM2	Adaptor-related protein complex 1, mu 1 subunit	AP1M1	8907	ENSG00000072958			Ap1m1 (MGI:102776)
chr19	16324826	16328685	19p13.1	19p13.11	602016	KLF2, LKLF	Kruppel-like factor 2	KLF2	10365	ENSG00000127528			Klf2 (MGI:1342772)
chr19	16355247	16472012	19p13.11	19p13.11	616826	EPS15L1, EPS15R	EPS15-like protein 1	EPS15L1	58513	ENSG00000127527			Eps15l1 (MGI:104582)
chr19	16479061	16496167	19p13.12	19p13.11	611414	CALR3, CRT2	Calreticulin 3	CALR3	125972	ENSG00000269058			Calr3 (MGI:1920566)
chr19	16517894	16542437	19p13.1	19p13.11	618539	CHERP	Calcium homeostasis endoplasmic reticulum protein	CHERP	10523	ENSG00000085872			Cherp (MGI:106417)
chr19	16549837	16572415	19p13.11	19p13.11	620337	SLC35E1	Solute carrier family 35, member E1	SLC35E1	79939	ENSG00000127526			Slc35e1 (MGI:2142403)
chr19	16574919	16628204	19p13.11	19p13.11	605043	MED26, CRSP7, CRSP70	Mediator complex subunit 26	MED26	9441	ENSG00000105085			Med26 (MGI:1917875)
chr19	16661139	16690023	19p13.11	19p13.11	611235	TMEM38A, TRICA	Transmembrane protein 38A	TMEM38A	79041	ENSG00000072954			Tmem38a (MGI:1921416)
chr19	16719847	16817963	19p13.11	19p13.11	616250	NWD1	NACHT domain- and WD repeat-containing protein 1	NWD1	284434	ENSG00000188039			Nwd1 (MGI:2442268)
chr19	16829398	16880349	19p13.11	19p13.11	607777	SIN3B, KIAA0700	Sin3, yeast, homolog of, B	SIN3B	23309	ENSG00000127511			Sin3b (MGI:107158)
chr19	16888999	16892606	19p12	19p13.11	602779	F2RL3, PAR4	Coagulation factor II, thrombin, receptor-like 3 (protease-activated receptor-4)	F2RL3	9002	ENSG00000127533			F2rl3 (MGI:1298207)
chr19	16892951	17026810	19p13.11	19p13.11	608841	CPAMD8, KIAA1283, ASGD8	Complement component 3- and pregnancy zone protein-like alpha-2-macroglobin domain-containing protein 8	CPAMD8	27151	ENSG00000160111		Anterior segment dysgenesis 8, 617319 (3), Autosomal recessive	
chr19	17049729	17075533	19p13.11	19p13.11	613434	HAUS8, DGT4, HICE1	HAUS augmin-like complex, subunit 8	HAUS8	93323	ENSG00000131351			Haus8 (MGI:1923728)
chr19	17075777	17213286	19p13.1	19p13.11	602129	MYO9B, MYR5	Myosin IXB	MYO9B	4650	ENSG00000099331			Myo9b (MGI:106624)
chr19	17215357	17219829	19p13.11	19p13.11	610675	USE1, MDS032	Unconventional SNARE in the ER 1	USE1	55850	ENSG00000053501			Use1 (MGI:1914273)
chr19	17231883	17245919	19p13.1	19p13.11	132880	NR2F6, ERBAL2, EAR2	Nuclear receptor subfamily 2, group F, member 6	NR2F6	2063	ENSG00000160113			Nr2f6 (MGI:1352453)
chr19	17249171	17264745	19p13.1	19p13.11	611810	USHBP1, MCC2	USH1C-binding protein 1	USHBP1	83878	ENSG00000130307			Ushbp1 (MGI:1922920)
chr19	17267443	17279337	19p13.11	19p13.11	612766	C10orf62, MERIT40, NBA1	Chromosome 19 open reading frame 62	BABAM1	29086	ENSG00000105393			Babam1 (MGI:1915501)
chr19	17281901	17287646	19p13.11	19p13.11	619348	ANKLE1, LEM3	Ankyrin repeat- and LEM domain-containing protein 1	ANKLE1	126549	ENSG00000160117			Ankle1 (MGI:1918775)
chr19	17292131	17303425	19p13.11	19p13.11	621036	ABHD8	Abhydrolase domain-containing protein 8	ABHD8	79575	ENSG00000127220			Abhd8 (MGI:1918946)
chr19	17292573	17306843	19p13.1	19p13.11	611840	MRPL34	Mitochondrial ribosomal protein L34	MRPL34	64981	ENSG00000130312			Mrpl34 (MGI:2137227)
chr19	17323223	17334855	19p13.11	19p13.11	610216	TMEM16H, KIAA1623	Transmembrane protein 16H	ANO8	57719	ENSG00000074855			Ano8 (MGI:2687327)
chr19	17334982	17342731	19p13.11	19p13.11	608536	GTPBP3, MSS1, COXPD23	GTP-binding protein 3	GTPBP3	84705	ENSG00000130299		Combined oxidative phosphorylation deficiency 23, 616198 (3), Autosomal recessive	Gtpbp3 (MGI:1917609)
chr19	17351455	17377342	19p13.2	19p13.11	607647	PLVAP, PV1, DIAR10	Plasmalemma vesicle-associated protein	PLVAP	83483	ENSG00000130300		Diarrhea 10, protein-losing enteropathy type, 618183 (3), Autosomal recessive	Plvap (MGI:1890497)
chr19	17402939	17405630	19p13.2	19p13.11	600534	BST2	Bone marrow stromal cell antigen	BST2	684	ENSG00000130303			Bst2 (MGI:1916800)
chr19	17455425	17460926	19p13.11	19p13.11	608791	NXNL1, RDCVF, TXNL6, LOC115861	Nucleoredoxin-like protein 1	NXNL1	115861	ENSG00000171773			Nxnl1 (MGI:1924446)
chr19	17468767	17506168	19p13.1	19p13.11	600691	SLC27A1, FATP, FATP1	Solute carrier family 27, member 1	SLC27A1	376497	ENSG00000130304			Slc27a1 (MGI:1347098)
chr19	17511649	17521288	19p13.2	19p13.11	604951	PGLS	6-phosphogluconolactonase	PGLS	25796	ENSG00000130313			Pgls (MGI:1913421)
chr19	17523301	17555537	19p13.11	19p13.11	609967	BCNP1	B-cell novel protein 1	NIBAN3	199786	ENSG00000167483			Niban3 (MGI:3686743)
chr19	17555649	17583157	19p13.11	19p13.11	617531	COLGALT1, GLT25D1, BSVD3	Collagen beta(1-0)galactosyltransferase 1	COLGALT1	79709	ENSG00000130309		Brain small vessel disease 3, 618360 (3), Autosomal recessive	Colgalt1 (MGI:1924348)
chr19	17601336	17688354	19p13.3	19p13.11	609894	UNC13A, KIAA1032	UNC13, C. elegans, homolog of, A	UNC13A	23025	ENSG00000130477			Unc13a (MGI:3051532)
chr19	17719480	17734513	19p13.11	19p13.11	607573	MAP1S, BPY2IP1, VCY2IP1, C19orf5	Microtubule-associated protein 1S	MAP1S	55201	ENSG00000130479			Map1s (MGI:2443304)
chr19	17747744	17788561	19p13.11	19p13.11	613437	FCHO1, IMD76	FCH domain-only protein 1	FCHO1	23149	ENSG00000130475		Immunodeficiency 76, 619164 (3), Autosomal recessive	Fcho1 (MGI:1921265)
chr19	17794791	17813576	19p	19p13.11	605863	TMEM3, B3GNT3	Transmembrane protein 3 (beta-1,3-N-acetylglucosaminyltransferase 3)	B3GNT3	10331	ENSG00000179913			B3gnt3 (MGI:2152535)
chr19	17816512	17821519	19p13.2	19p13.11	146738	INSL3	Insulin-like 3, Leydig cell	INSL3	3640	ENSG00000248099		Cryptorchidism, 219050 (3), Autosomal dominant	Insl3 (MGI:108427)
chr19	17824782	17847982	19p13.1	19p13.11	600173	JAK3, JAKL	Janus kinase 3 (Janus kinase, leukocyte)	JAK3	3718	ENSG00000105639		Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type, 600802 (3), Autosomal recessive	Jak3 (MGI:99928)
chr19	17859910	17863319	19p	19p13.11	604178	RPL18A	Ribosomal protein L18a	RPL18A	6142	ENSG00000105640			Rpl18a (MGI:1924058)
chr19	17871945	17895174	19p13.2-p12	19p13.11	601843	SLC5A5, NIS, TDH1	Solute carrier family 5 (sodium iodide symporter), member-5	SLC5A5	6528	ENSG00000105641		Thyroid dyshormonogenesis 1, 274400 (3), Autosomal recessive	Slc5a5 (MGI:2149330)
chr19	17951290	18000085	19p13.11	19p13.11	602982	KCNN1	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 1	KCNN1	3780	ENSG00000105642			Kcnn1 (MGI:1933993)
chr19	18058995	18098816	19p13.1	19p13.11	601604	IL12RB1, IMD30	Interleukin-12 receptor, beta-1	IL12RB1	3594	ENSG00000096996		Immunodeficiency 30, 614891 (3), Autosomal recessive	Il12rb1 (MGI:104579)
chr19	18097778	18151687	19p13.11	19p13.11	612258	MAST3, KIAA0561, DEE108	Microtubule-associated serine/threonine kinase 3	MAST3	23031	ENSG00000099308		Developmental and epileptic encephalopathy 108, 620115 (3), Autosomal dominant	Mast3 (MGI:2683541)
chr19	18153163	18170532	19q13.2-q13.4	19p13.11	603157	PIK3R2, MPPH1	Phosphatidylinositol 3-kinase, regulatory subunit 2	PIK3R2	5296	ENSG00000105647		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3), Autosomal dominant	Pik3r2 (MGI:1098772)
chr19	18173813	18178117	19p13.11	19p13.11	604664	IFI30, GILT	Interferon-gamma-inducible protein 30	IFI30	10437	ENSG00000216490			Ifi30 (MGI:2137648)
chr19	18193218	18196948	19p13.11	19p13.11	616133	MPV17L2	MPV17 mitochondrial inner membrane protein-like 2	MPV17L2	84769	ENSG00000254858			Mpv17l2 (MGI:2681846)
chr19	18196784	18204042	19p13.1-p12	19p13.11	179490	RAB3A	RAS-associated protein RAB3A	RAB3A	5864	ENSG00000105649			Rab3a (MGI:97843)
chr19	18207965	18255362	19p13.1	19p13.11	600128	PDE4C, DPDE1	Phosphodiesterase-4C, cAMP-specific (dunce, Drosophila, homolog phosphodiesterase E1)	PDE4C	5143	ENSG00000105650	between JUND (proximal) and RAB3A (distal)		Pde4c (MGI:99556)
chr19	18257098	18274452	19p13.11	19p13.11	620160	IQCN, SPGF78	IQ motif-containing protein N	IQCN	80726	ENSG00000130518		Spermatogenic failure 78, 620170 (3), Autosomal recessive	Iqcn (MGI:3708784)
chr19	18279694	18281622	19p13.1-p12	19p13.11	165162	JUND	Jun D protooncogene, AP-1 transcription factor subunit	JUND	3727	ENSG00000130522			Jund (MGI:96648)
chr19	18306236	18323076	19p13.11	19p13.11	607284	LSM4	LSM4 protein	LSM4	25804	ENSG00000130520			Lsm4 (MGI:1354692)
chr19	18340598	18369950	19p13.11	19p13.11	610694	PGPEP1, PCP, PGP	Pyroglutamyl peptidase I	PGPEP1	54858	ENSG00000130517			Pgpep1 (MGI:1913772)
chr19	18386158	18389176	19p13.2-p13.1	19p13.11	605312	GDF15, PLAB, PDF, MIC1, HG	Growth/differentiation factor-15 (bone morphogenetic protein, placental)	GDF15	9518	ENSG00000130513		{Hyperemesis gravidarum, susceptibility to}, 620730 (3), Autosomal dominant	Gdf15 (MGI:1346047)
chr19	18391137	18397622	19p13.2-p12	19p13.11	607518	LRRC25, MAPA	Leucine rich repeat containing 25	LRRC25	126364	ENSG00000175489			Lrrc25 (MGI:2445284)
chr19	18402725	18434562	19p13.1	19p13.11	607391	SSBP4	Single-stranded DNA-binding protein 4	SSBP4	170463	ENSG00000130511			Ssbp4 (MGI:1924150)
chr19	18434388	18438133	19p13.1	19p13.11	611670	ISYNA1, IPS	Myoinositol 1-phosphate synthase A1	ISYNA1	51477	ENSG00000105655	pseudogene on 4p15		Isyna1 (MGI:1919030)
chr19	18442663	18522070	19p13.1	19p13.11	600284	ELL	ELL gene (11-19 lysine-rich leukemia gene)	ELL	8178	ENSG00000105656			Ell (MGI:109377)
chr19	18531763	18543573	19p12	19p13.11	604840	FKBP8, FKBP38	FK506-binding protein 8	FKBP8	23770	ENSG00000105701	pseudogene on 1q32		Fkbp8 (MGI:1341070)
chr19	18557870	18569378	19p13.11	19p13.11	615178	KXD1, C10orf50	KXDL motif-containing protein 1	KXD1	79036	ENSG00000105700			Kxd1 (MGI:1922870)
chr19	18563766	18577550	19p13.1-p12	19p13.11	191321	UBA52	Ubiquitin A-52 residue ribosomal protein fusion product 1	UBA52	7311	ENSG00000221983			Uba52,Uba52-ps,Uba52rt (MGI:3644625,MGI:3649356,MGI:98887)
chr19	18593237	18606799	19p12	19p13.11	604237	CRLF1, CISS1	Cytokine-like factor 1	CRLF1	9244	ENSG00000006016		Cold-induced sweating syndrome 1, 272430 (3), Autosomal recessive	Crlf1 (MGI:1340030)
chr19	18612870	18621039	19p12	19p13.11	617096	TMEM59L, BSMAP	Transmembrane protein 59-like	TMEM59L	25789	ENSG00000105696			Tmem59l (MGI:1915187)
chr19	18683680	18782333	19p13	19p13.11	607536	CRTC1, MECT1, KIAA0616, FLJ14027	CREB-regulated transcription coactivator 1	CRTC1	23373	ENSG00000105662	t(11;19)	Mucoepidermoid salivary gland carcinoma (3)	Crtc1 (MGI:2142523)
chr19	18782773	18791305	19p13.1	19p13.11	600310	COMP, EDM1, MED, PSACH, CTS2	Cartilage oligomeric matrix protein	COMP	1311	ENSG00000105664		Pseudoachondroplasia, 177170 (3), Autosomal dominant; Carpal tunnel syndrome 2, 619161 (3), Autosomal dominant; Epiphyseal dysplasia, multiple, 1, 132400 (3), Autosomal dominant	Comp (MGI:88469)
chr19	18831959	18868230	19p13.2-p13.11	19p13.11	601430	UPF1, RENT1, HUPF1	UPF1 RNA helicase and ATPase	UPF1	5976	ENSG00000005007			Upf1 (MGI:107995)
chr19	18868545	18896982	19p12	19p13.11	606919	CERS1, LASS1, UOG1, EPM8	Ceramide synthase 1	CERS1	10715	ENSG00000223802		Epilepsy, progressive myoclonic, 8, 616230 (3), Autosomal recessive	Cers1 (MGI:2136690)
chr19	18868545	18896158	19p12	19p13.11	602880	GDF1, DTGA3, DORV, RAI, CHTD6	Growth/differentiation factor 1	GDF1	2657	ENSG00000130283		Congenital heart defects, multiple types, 6, 613854 (3), Autosomal dominant; Right atrial isomerism (Ivemark), 208530 (3), Autosomal recessive	Gdf1 (MGI:95683)
chr19	18899514	18919387	19p13.11	19p13.11	606942	COPE	Cotamer protein complex, subunit epsilon	COPE	11316	ENSG00000105669			Cope (MGI:1891702)
chr19	18929201	18941217	19p13.11	19p13.11	604800	HOMER3	Homer scaffold protein 3	HOMER3	9454	ENSG00000051128			Homer3 (MGI:1347359)
chr19	18990887	19033844	19p13.11	19p13.11	607993	SUGP2, SRFS14, KIAA0365	SURP and G-patch domains-containing protein 2	SUGP2	10147	ENSG00000064607			Sugp2 (MGI:2678085)
chr19	19063994	19113030	19p13.11	19p13.11	610823	SLC25A42, MECREN	Solute carrier family 25, member 42	SLC25A42	284439	ENSG00000181035		Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 (3), Autosomal recessive	Slc25a42 (MGI:1920345)
chr19	19119169	19138478	19p13.11	19p13.11	618966	TMEM161A, AROS29	Transmembrane protein 161A	TMEM161A	54929	ENSG00000064545			Tmem161a (MGI:2384577)
chr19	19145567	19170263	19p12	19p13.11	600661	MEF2B	MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B)	MEF2B	100271849	ENSG00000213999			Mef2b,Mef2bl (MGI:104526,MGI:5825566)
chr19	19176906	19192152	19p13.11	19p13.11	616601	BORCS8, MEF2BNB, NDOABA	BLOC1-related complex, subunit 8	BORCS8	729991	ENSG00000254901		Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, 620987 (3), Autosomal recessive	Borcs8 (MGI:1919618)
chr19	19192258	19201866	19p12	19p13.11	603200	RFXANK, MHC2D2	Regulatory factor X, ankyrin repeat-containing	RFXANK	8625	ENSG00000064490		MHC class II deficiency 2, 620815 (3), Autosomal recessive	Rfxank (MGI:1333865)
chr19	19201409	19203414	19p13.11	19p13.11	608719	NR2C2AP, TRA16	Nuclear receptor 2C2 associated protein	NR2C2AP	126382	ENSG00000184162			Nr2c2ap (MGI:1922942)
chr19	19211958	19252233	19p12	19p13.11	600826	CSPG3, NCAN	Chondroitin sulfate proteoglycan 3 (neurocan)	NCAN	1463	ENSG00000130287			Ncan (MGI:104694)
chr19	19254756	19262804	19p13.11	19p13.11	619710	HAPLN4, BRAL2, KIAA1926	Hyaluronan and proteoglycan link protein 4	HAPLN4	404037	ENSG00000187664			Hapln4 (MGI:2679531)
chr19	19264366	19273301	19p12	19p13.11	606563	TM6SF2, KIAA1926	Transmembrane 6 superfamily, member 2	TM6SF2	53345	ENSG00000213996			Tm6sf2 (MGI:1933210)
chr19	19276033	19320509	19p13.11	19p13.11	607992	SUGP1, SF4	SURP and G-patch domains-containing protein 1	SUGP1	57794	ENSG00000105705			Sugp1 (MGI:1917866)
chr19	19320829	19358754	19p13.11	19p13.11	614560	MAU2, SCC4, KIAA0892	MAU2 chromatid cohesion factor	MAU2	23383	ENSG00000129933			Mau2 (MGI:1921799)
chr19	19385843	19508932	19q13.11	19p13.11	614997	GATAD2A	GATA zinc finger domain-containing protein 2A	GATAD2A	54815	ENSG00000167491			Gatad2a (MGI:2384585)
chr19	19514219	19515548	19p13.11	19p13.11	610712	TSSK6, SSTK, TSSK4	Testis-specific serine/threonine kinase 6	TSSK6	83983	ENSG00000178093			Tssk6 (MGI:2148775)
chr19	19516225	19528198	19p13.2-p13.1	19p13.11	609435	NDUFA13, GRIM19, MC1DN28	NADH-ubiquinone oxidoreductase subunit A13	NDUFA13	51079	ENSG00000186010		{Thyroid carcinoma, Hurthle cell}, 607464 (3); Mitochondrial complex I deficiency, nuclear type 28, 618249 (3), Autosomal recessive	Ndufa13 (MGI:1914434)
chr19	19528911	19537581	19p13.11	19p13.11	618607	YJEFN3	Yjef N-terminal domain-containing protein 3	YJEFN3	374887	ENSG00000250067			Yjefn3 (MGI:2681845)
chr19	19538265	19546659	19p13.11	19p13.11	612419	CILP2	Cartilage intermediate layer protein 2	CILP2	148113	ENSG00000160161			Cilp2 (MGI:1915959)
chr19	19561713	19618687	19p13.11	19p13.11	608127	PBX4	Pre-B-cell leukemia transcription factor 4	PBX4	80714	ENSG00000105717			Pbx4 (MGI:1931321)
chr19	19623655	19628220	19p12	19p13.11	605110	LPAR2, EDG4	Lysophosphatidic acid receptor 2	LPAR2	9170	ENSG00000064547			Lpar2 (MGI:1858422)
chr19	19629476	19643657	19p12-p11	19p13.11	609694	GMIP	GEM-interacting protein	GMIP	51291	ENSG00000089639			Gmip (MGI:1926066)
chr19	19645198	19663676	19p13.11	19p13.11	619118	ATP13A1	ATPase 13A1	ATP13A1	57130	ENSG00000105726			Atp13a1 (MGI:2180801)
chr19	19668153	19683506	19p13.1-p12	19p13.11	603983	ZNF101	Zinc finger protein-101	ZNF101	94039	ENSG00000181896			
chr19	19710472	19733112	19p13.3-p13.2	19p13.11	194556	ZNF14, KOX6	Zinc finger protein-14 (KOX 6)	ZNF14	7561	ENSG00000105708			Zfp975,Zfp976 (MGI:3036263,MGI:3648690)
chr19	19756371	19776413	19p13.11	19p13.11	617117	LINC00663	Long intergenic noncoding RNA 663	LINC00663	284440				
chr19	19865830	19894674	19p13	19p13.11	606954	ZNF253	Zinc finger protein 253	ZNF253	56242	ENSG00000256771			Zfp65 (MGI:107769)
chr19	19900946	19935575	19p13.1-p12	19p12	603975	ZNF93	Zinc finger protein-93	ZNF93	81931	ENSG00000184635			Gm14399,Gm14412,Gm14443,Gm32687,Gm3604,Gm45871,Zfp1005,Zfp1007,Zfp433,Zfp442,Zfp457,Zfp950,Zfp970,Zfp976,Zfp997 (MGI:1920860,MGI:1924450,MGI:2652824,MGI:2664334,MGI:3036263,MGI:3642406,MGI:3650082,MGI:3651999,MGI:3652002,MGI:3652251,MGI:3652255,MGI:3652324,MGI:3781781,MGI:5591846,MGI:5804986)
chr19	20078000	20121168	19p13.1-p12	19p12	603973	ZNF90	Zinc finger protein-90	ZNF90	7643	ENSG00000213988			Zfp119b (MGI:2385323)
chr19	20530276	20565781	19p13.1-p12	19p12	603984	ZNF737, ZNF102	Zinc finger protein-737	ZNF737	100129842	ENSG00000237440			
chr19	20923251	20950697	19p13.1-p12	19p12	603899	ZNF85	Zinc finger protein-85	ZNF85	7639	ENSG00000105750			Zfp457,Zfp595 (MGI:2664334,MGI:3040707)
chr19	21142040	21196053	19p12	19p12	619505	ZNF431, ZFP932	Zinc finger protein 431	ZNF431	170959	ENSG00000196705			
chr19	21722771	21767579	19p13.1-p12	19p12	603982	ZNF100	Zinc finger protein-100	ZNF100	163227	ENSG00000197020			
chr19	21804946	21852065	19p13.1-p12	19p12	603972	ZNF43	Zinc finger protein-43	ZNF43	7594	ENSG00000198521			Zfp458 (MGI:3040691)
chr19	21939815	22010943	19p13.1-p12	19p12	603977	ZNF208, ZNF95	Zinc finger protein-208	ZNF208	7757	ENSG00000160321			Zfp619,Zfp729a (MGI:1917477,MGI:3036250)
chr19	22052484	22091480	19p12	19p12	606957	ZNF257	Zinc finger protein 257	ZNF257	113835	ENSG00000197134			
chr19	22391019	22422346	19p12	19p12	603980	ZNF98	Zinc finger protein-98	ZNF98	148198	ENSG00000197360			
chr19	22634324	22667671	19p12	19p12	620124	ZNF492, KIAA1473	Zinc finger protein 492	ZNF492	57615	ENSG00000229676			
chr19	22752183	22784151	19p12	19p12	603981	ZNF99	Zinc finger protein-99	ZNF99	7652	ENSG00000213973			Zfp729a (MGI:3036250)
chr19	23305004	23395471	19p13.1-p12	19p12	603971	ZNF91	Zinc finger protein-91	ZNF91	7644	ENSG00000167232			Zfp729a,Zfp869 (MGI:1914119,MGI:3036250)
chr19	23652801	23687212	19q12	19p12	620090	ZNF675, TIZ	Zinc finger protein 675	ZNF675	171392	ENSG00000197372			
chr19	24033449	24129968	19p13.12-p13.11	19p12	604768	ZNF254, ZNF91L	Zinc finger protein-254	ZNF254	9534	ENSG00000213096			Gm14399,Gm14412,Gm14443,Gm32687,Gm3604,Gm45871,Zfp1005,Zfp1007,Zfp433,Zfp442,Zfp950,Zfp970,Zfp976,Zfp997 (MGI:1920860,MGI:1924450,MGI:2652824,MGI:3036263,MGI:3642406,MGI:3650082,MGI:3651999,MGI:3652002,MGI:3652251,MGI:3652255,MGI:3652324,MGI:3781781,MGI:5591846,MGI:5804986)
chr19	26200001	58617616	19q		601764	BFIS1, BFIC1	Benign familial infantile seizures		8181			Seizures, benign familial infantile, 1, 601764 (2), Autosomal dominant	
chr19	26200001	58617616	19q		607592	HPCQTL19	Prostate cancer aggressiveness quantitative trait locus on chromosome 19		347747		D19S902	{Prostate cancer aggressiveness QTL}, 607592 (2)	
chr19	26200001	58617616	19q		606712	SLI2	Specific language impairment QTL, 2		171014			Specific language impairment QTL, 2, 606712 (2), Multifactorial	
chr19	28100001	31900000	19q12		606875	HSCR7	Hirschsprung disease, susceptibility to, 7		246322			{Hirschsprung disease, susceptibility to, 7}, 606875 (2)	
chr19	29205320	29213151	19q12	19q12	191327	UQCRFS1, MC3DN10	Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	UQCRFS1	7386	ENSG00000169021		Mitochondrial complex III deficiency, nuclear type 10, 618775 (3), Autosomal recessive	Uqcrfs1 (MGI:1913944)
chr19	29606283	29617237	19q12	19q12	606114	POP4, RPP29	POP4 homolog, ribonuclease P/MRP subunit	POP4	10775	ENSG00000105171			Pop4 (MGI:1913411)
chr19	29665461	29675477	19q11	19q12	615200	PLEKHF1, LAPF, PHAFIN1	Pleckstrin homolog domain-containing protein, family F, member 1	PLEKHF1	79156	ENSG00000166289			Plekhf1 (MGI:1919537)
chr19	29698886	29715789	19q12	19q12	614297	C19orf12, NBIA4, SPG43	Chromosome 19 open reading frame 12	C19orf12	83636	ENSG00000131943	mutation identified in 1 SPG43 family	Neurodegeneration with brain iron accumulation 4, 614298 (3), Autosomal recessive, Autosomal dominant; ?Spastic paraplegia 43, autosomal recessive, 615043 (3), Autosomal recessive	1600014C10Rik (MGI:1919494)
chr19	29811991	29824312	19q13.1	19q12	123837	CCNE1	Cyclin E1	CCNE1	898	ENSG00000105173			Ccne1 (MGI:88316)
chr19	29923657	30016612	19q12	19q12	603494	URI1, NNX3, RMP	Prefoldin-like chaperone URI1	URI1	8725	ENSG00000105176			Uri1 (MGI:1342294)
chr19	30225592	30713586	19q12	19q12	618037	ZNF536, KIAA0390	Zinc finger protein 536	ZNF536	9745	ENSG00000198597			Zfp536 (MGI:1926102)
chr19	31149876	31350877	19q13.11	19q12	614119	TSHZ3, KIAA1474	Teashirt zinc finger homeobox 3	TSHZ3	57616	ENSG00000121297			Tshz3 (MGI:2442819)
chr19	31900001	58617616	19q13		100070	AAA1, AAA	Aortic aneurysm, familial abdominal 1		100329167		near D19S416	Aortic aneurysm, familial abdominal 1, 100070 (2), Autosomal dominant	
chr19	31900001	58617616	19q13		608542	ANIB2	Aneurysm, intracranial berry, 2		449013		between D19S245 and D19S246	Aneurysm, intracranial berry, 2, 608542 (2)	
chr19	31900001	58617616	19q13		609376	CTRCT35, CATCN1	Cataract 35		619404		max lod at D19S416	Cataract 35, congenital nuclear, 609376 (2), Autosomal recessive	
chr19	31900001	35100000	19q13.11		613026	DEL19q13.11d, C19DELq13.11d	Chromosome 19q13.11 deletion syndrome, distal				contiguous gene syndrome	Chromosome 19q13.11 deletion syndrome, distal, 613026 (4), Autosomal dominant	
chr19	31900001	35100000	19q13.11		617219	DEL19q13.11p, C19DELq13.11p	Chromosome 19q13.11 deletion syndrome, proximal					Chromosome 19q13.11 deletion syndrome, proximal, 617219 (4), Autosomal dominant	
chr19	31900001	58617616	19q13.1-qter		129150	E11S	Echo 11 sensitivity		1878				
chr19	31900001	58617616	19q13		611907	EA7	Episodic ataxia, type 7		100188859		between rs1366444 and rs952108	Episodic ataxia, type 7, 611907 (2), Autosomal dominant	
chr19	31900001	58617616	19q13		600757	OFC3	Orofacial cleft 3		4965		?role of BCL3	Orofacial cleft 3, 600757 (2), ?Autosomal dominant	
chr19	31900001	58617616	19q13		616265	PSS3	Peeling skin syndrome 3		134198642		between D19S414 and D19S412	Peeling skin syndrome 3, 616265 (2), Autosomal recessive	
chr19	31900001	58617616	19q13		614746	UAQTL5	Uric acid concentration, serum, quantitative trait locus 5		100996934		associated with rs150414818	[Uric acid concentration, serum, QTL5], 614746 (2)	
chr19	32345610	32387667	19q13.11	19q13.11	620567	ZNF507	Zinc finger protein 507	ZNF507	22847	ENSG00000168813			Zfp507 (MGI:1916378)
chr19	32405770	32485890	19q13.11	19q13.11	613894	DPY19L3	DPY19-like 3	DPY19L3	147991	ENSG00000178904			Dpy19l3 (MGI:2443952)
chr19	32581190	32587453	19q13.11	19q13.11	604583	PDCD5, TFAR19	Programmed cell death 5	PDCD5	9141	ENSG00000105185			Pdcd5,Pdcd5-ps (MGI:1913538,MGI:3782009)
chr19	32597006	32675180	19q13.11	19q13.11	618957	ANKRD27, VARP	Ankyrin repeat domain-containing protein 27	ANKRD27	84079	ENSG00000105186			Ankrd27 (MGI:2444103)
chr19	32675848	32678300	19q13.11	19q13.11	607814	RGS9BP, R9AP, RGS9, PERRS2	Regulator of G protein signaling 9-binding protein	RGS9BP	388531	ENSG00000186326		Prolonged electroretinal response suppression 2, 620344 (3), Autosomal recessive	Rgs9bp (MGI:2384418)
chr19	32830511	32869767	19q13.1	19q13.11	604144	SLC7A9, CSNU3	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9	SLC7A9	11136	ENSG00000021488		Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant	Slc7a9 (MGI:1353656)
chr19	32875925	32971958	19q13.11	19q13.11	615470	CEP89, CCDC123, CEP123, FLJ14640	Centrosomal protein, 89kD	CEP89	84902	ENSG00000121289			Cep89 (MGI:1919390)
chr19	32972242	32978229	19q13.11	19q13.11	610884	FAAP24, C19orf40	FA core complex-associated protein 24	FAAP24	91442	ENSG00000131944			Faap24 (MGI:2142208)
chr19	32978592	33064888	19q13.11	19q13.11	617932	RHPN2	Rhophilin 2	RHPN2	85415	ENSG00000131941			Rhpn2 (MGI:1289234)
chr19	33194330	33208864	19q12-q13.2	19q13.11	603159	LRP3	Low density lipoprotein receptor related protein 3	LRP3	4037	ENSG00000130881			Lrp3 (MGI:3584516)
chr19	33208664	33225850	19q13.11	19q13.11	607959	SLC7A10, ASC1	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 10	SLC7A10	56301	ENSG00000130876			Slc7a10 (MGI:1858261)
chr19	33299934	33302534	19q13.1	19q13.11	116897	CEBPA, CEBP	CCAAT/enhancer-binding protein (C/EBP), alpha	CEBPA	1050	ENSG00000245848	germline mutation identified in 1 AML family	Leukemia, acute myeloid, somatic, 601626 (3); ?Leukemia, acute myeloid, 601626 (3), Somatic mutation, Autosomal dominant	Cebpa (MGI:99480)
chr19	33302821	33305057	19q13.11	19q13.11	620560	CEBPA-DT, ADINR, CEBPA-AS1, LOC80054	CEBPA divergent transcript	CEBPA-DT	80054	ENSG00000267296			
chr19	33373709	33382686	19q13.11	19q13.11	138972	CEBPG, GPE1BP	CCAAT/enhancer-binding protein, gamma	CEBPG	1054	ENSG00000153879			Cebpg (MGI:104982)
chr19	33386950	33521791	19cen-q13.11	19q13.11	613230	PEPD	Peptidase D (prolidase)	PEPD	5184	ENSG00000124299	closely linked to APOC2	Prolidase deficiency, 170100 (3), Autosomal recessive	Pepd (MGI:97542)
chr19	33621953	33773509	19q13.1	19q13.11	610190	CHST8, GALNAC4ST1	Carbohydrate sulfotransferase 8	CHST8	64377	ENSG00000124302	mutation has been identified in 1 PSS3 family		Chst8 (MGI:1916197)
chr19	33794040	33815761	19q13.11	19q13.11	615240	KCTD15	Potassium channel tetramerization domain-containing protein 15	KCTD15	79047	ENSG00000153885			Kctd15 (MGI:2385276)
chr19	34172504	34229288	19q13.11	19q13.11	610677	LSM14A, RAP55	LSM14A protein	LSM14A	26065	ENSG00000257103			Lsm14a (MGI:1914320)
chr19	34254554	34355566	19q13.11	19q13.11	619335	GARRE1, KIAA0355	Granule-associated RAC and RHOG effector 1	GARRE1	9710	ENSG00000166398			Garre1 (MGI:1924311)
chr19	34359718	34402413	19q13.1	19q13.11	172400	GPI, CNSHA4	Glucose phosphate isomerase; neuroleukin	GPI	2821	ENSG00000105220		Anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient, 613470 (3), Autosomal recessive	Gpi1 (MGI:95797)
chr19	34404399	34426168	19q13.11	19q13.11	615661	PDCD2L, MGC13096	Programmed cell death 2-like protein	PDCD2L	84306	ENSG00000126249			Pdcd2l (MGI:1915329)
chr19	34428381	34471251	19q12	19q13.11	613295	UBA2, SAE2, ACCES	Ubiquitin-like modifier-activating enzyme 2	UBA2	10054	ENSG00000126261		ACCES syndrome, 619959 (3), Autosomal dominant	Uba2 (MGI:1858313)
chr19	34481758	34512304	19q13.12	19q13.11	614790	WTIP	WT1-interacting protein	WTIP	126374	ENSG00000142279			Wtip (MGI:2141920)
chr19	34585529	34677159	19q13.11	19q13.11	615063	SCGB2B2	Secretoglobin, family 2B, member 2	SCGB2B2	284402	ENSG00000205209			
chr19	34734243	34745378	19q13.2	19q13.11	606741	ZNF181	Zinc finger protein-181	ZNF181	339318	ENSG00000197841			
chr19	34994727	35026469	19q13.11	19q13.11	620178	GRAMD1A, KIAA1533	GRAM domain-containing protein 1A	GRAMD1A	57655	ENSG00000089351			Gramd1a (MGI:105490)
chr19	35030470	35040449	19q13.1	19q13.11	600235	SCN1B, GEFSP1, BRGDA5, ATFB13, DEE52	Sodium voltage-gated channel, beta subunit 1	SCN1B	6324	ENSG00000105711		Generalized epilepsy with febrile seizures plus, type 1, 604233 (3), Autosomal dominant; Developmental and epileptic encephalopathy 52, 617350 (3), Autosomal recessive; Cardiac conduction defect, nonspecific, 612838 (3); Atrial fibrillation, familial, 13, 615377 (3), Autosomal dominant; Brugada syndrome 5, 612838 (3)	Scn1b (MGI:98247)
chr19	35040506	35066573	19q11-q13.2	19q13.11	142440	HPN	Hepsin	HPN	3249	ENSG00000105707			Hpn (MGI:1196620)
chr19	35115823	35124324	19q13.12	19q13.12	604996	FXYD3, PLML, MAT8	FXYD domain-containing ion transport regulator 3	FXYD3	5349	ENSG00000089356			Fxyd3 (MGI:107497)
chr19	35124513	35135059	19q13.11	19q13.12	608303	LGI4, AMC1	Leucine-rich gene, glioma-inactivated, 4	LGI4	163175	ENSG00000153902		Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, 617468 (3), Autosomal recessive	Lgi4 (MGI:2180197)
chr19	35137188	35143109	19q13.1	19q13.12	602359	FXYD1, PLM	FXYD domain-containing ion transport regulator 1 (phospholemman)	FXYD1	5348	ENSG00000266964			Fxyd1 (MGI:1889273)
chr19	35143255	35154302	19q13.12	19q13.12	606684	FXYD7	FXYD domain-containing ion transport regulator 7	FXYD7	53822	ENSG00000221946			Fxyd7 (MGI:1889006)
chr19	35154735	35169881	19q13.12	19q13.12	606669	FXYD5	FXYD domain-containing ion transport regulator 5	FXYD5	53827	ENSG00000089327			Fxyd5 (MGI:1201785)
chr19	35249002	35267964	19q13.12	19q13.12	616582	LSR	Lipolysis-stimulated lipoprotein receptor	LSR	51599	ENSG00000105699			Lsr (MGI:1927471)
chr19	35268962	35279821	19q13.1	19q13.12	600390	USF2, FIP	Upstream transcription factor 2, c-fos interacting	USF2	7392	ENSG00000105698			Usf2 (MGI:99961)
chr19	35282528	35285143	19q13	19q13.12	606464	HAMP, LEAP1, HEPC, HFE2B	Hepcidin antimicrobial peptide	HAMP	57817	ENSG00000105697	digenic form with HAMP and HFE mutations	Hemochromatosis, type 2B, 613313 (3), Autosomal recessive	Hamp,Hamp2 (MGI:1933533,MGI:2153530)
chr19	35292161	35313807	19q13.1	19q13.12	159460	MAG, GMA, SPG75	Myelin-associated glycoprotein	MAG	4099	ENSG00000105695		Spastic paraplegia 75, autosomal recessive, 616680 (3), Autosomal recessive	Mag (MGI:96912)
chr19	35329187	35347361	19q13.1	19q13.12	107266	CD22	CD22 antigen	CD22	933	ENSG00000012124			Cd22 (MGI:88322)
chr19	35347902	35353864	19q13.1	19q13.12	603820	FFAR1, GPR40	Free fatty acid receptor 1	FFAR1	2864	ENSG00000126266			Ffar1 (MGI:2684079)
chr19	35358151	35360489	19q13.1	19q13.12	603821	FFAR3, GPR41	Free fatty acid receptor 3	FFAR3	2865	ENSG00000185897			Ffar3 (MGI:2685324)
chr19	35371068	35372962	19q13.1	19q13.12	603822	GPR42	G protein-coupled receptor-42	GPR42	2866	ENSG00000126251			Ffar3 (MGI:2685324)
chr19	35448257	35451767	19q13.1	19q13.12	603823	FFAR2, GPR43	Free fatty acid receptor 2	FFAR2	2867	ENSG00000126262			Ffar2 (MGI:2441731)
chr19	35487324	35490464	19q13.1	19q13.12	617212	KDAP	Keratinocyte differentiation-associated protein	KRTDAP	388533	ENSG00000188508			Krtdap (MGI:1928282)
chr19	35497220	35513649	19q13.1	19q13.12	617211	DMKN	Dermokine	DMKN	93099	ENSG00000161249			Dmkn (MGI:1920962)
chr19	35523367	35528311	19q13.1	19q13.12	609969	SBSN	Suprabasin	SBSN	374897	ENSG00000189001			Sbsn (MGI:2446326)
chr19	35533456	35545319	19q13.1	19q13.12	609169	GAPDHS, GAPD2	Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	GAPDHS	26330	ENSG00000105679	9.5 Mbp prox. to APOE		Gapdhs (MGI:95653)
chr19	35545626	35547526	19q13.12	19q13.12	613585	TMEM147, NEDFLPH	Transmembrane protein 147	TMEM147	10430	ENSG00000105677		Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, 620075 (3), Autosomal recessive	Tmem147 (MGI:1915011)
chr19	35550031	35563658	19q13.1	19q13.12	137216	ATP4A, ATP6A	ATPase, H+, K+ transporting, alpha	ATP4A	495	ENSG00000105675			Atp4a (MGI:88113)
chr19	35612735	35625355	19q13.12	19q13.12	613432	HAUS5, DGT5, KIAA0841	HAUS augmin-like complex, subunit 5	HAUS5	23354	ENSG00000249115			Haus5 (MGI:1919159)
chr19	35629036	35637685	19q13.12	19q13.12	613232	RBM42	RNA-binding motif protein 42	RBM42	79171	ENSG00000126254			Rbm42 (MGI:1915285)
chr19	35641745	35644871	19q13.1	19q13.12	609358	ETV2, ETSRP71	ETS variant transcription factor 2	ETV2	2116	ENSG00000105672			Etv2 (MGI:99253)
chr19	35648323	35658782	19q13.1	19q13.12	124089	COX6B1, MC4DN7	Cytochrome c oxidase, subunit VIb polypeptide 1 (ubiquitous)	COX6B1	1340	ENSG00000126267		Mitochondrial complex IV deficiency, nuclear type 7, 619051 (3), Autosomal recessive	Cox6b1 (MGI:107460)
chr19	35666517	35678481	19q13.1	19q13.12	611557	UPK1A, UPIA	Uroplakin 1A	UPK1A	11045	ENSG00000105668			Upk1a (MGI:98911)
chr19	35704558	35717038	19q13.1	19q13.12	605859	ZBTB32, FAXF, TZFP, ROG	Zinc finger- and BTB domain-containing protein 32	ZBTB32	27033	ENSG00000011590			Zbtb32 (MGI:1891838)
chr19	35718003	35738878	19q13.1	19q13.12	606834	KMT2B, MLL4, KIAA0304, DYT28, MRD68	Lysine-specific methyltransferase 2B	KMT2B	9757	ENSG00000272333		Intellectual developmental disorder, autosomal dominant 68, 619934 (3), Autosomal dominant; Dystonia 28, childhood-onset, 617284 (3), Autosomal dominant	Kmt2b (MGI:109565)
chr19	35738801	35742452	19q13.12	19q13.12	614143	IGFLR1, TMEM149	IGF-like family receptor 1	IGFLR1	79713	ENSG00000126246			Igflr1 (MGI:3655979)
chr19	35742464	35745418	19q13.2	19q13.12	601080	U2AF1L4, U2AF1RS3	U2 small nuclear RNA auxillary factor 1-like 4	U2AF1L4	199746	ENSG00000161265			U2af1l4 (MGI:2678374)
chr19	35745651	35747519	19q13.1	19q13.12	607632	PSENEN, PEN2, ACNINV2	Presenilin enhancer, gamma-secretase subunit	PSENEN	55851	ENSG00000205155		Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 (3), Autosomal dominant	Psenen (MGI:1913590)
chr19	35754566	35757029	19q13.13	19q13.12	610695	HSPB6, HSP20	Heat-shock 27kD protein 6	HSPB6	126393	ENSG00000004776			Hspb6 (MGI:2685325)
chr19	35775564	35788822	19q13.12	19q13.12	614902	ARHGAP33, TCGAP	Rho GTPase-activating protein 33	ARHGAP33	115703	ENSG00000004777			Arhgap33 (MGI:2673998)
chr19	35799988	35812845	19q13.12	19q13.12	616377	PRODH2, HYPDH	Proline dehydrogenase (oxidase) 2	PRODH2	58510	ENSG00000250799			Prodh2 (MGI:1929093)
chr19	35825372	35852504	19q13.1	19q13.12	602716	NPHS1, NPHN	Nephrin	NPHS1	4868	ENSG00000161270		Nephrotic syndrome, type 1, 256300 (3), Autosomal recessive	Nphs1 (MGI:1859637)
chr19	35851399	35867136	19q13.1	19q13.12	607762	KIRREL2, NEPH3, NLG1, FILTRIN	Kirre-like nephrin family adhesion molecule 2	KIRREL2	84063	ENSG00000126259			Kirrel2 (MGI:2442334)
chr19	35868574	35879792	19q13.2	19q13.12	104775	APLP1, APLP	Amyloid beta (A4) precursor-like protein-1	APLP1	333	ENSG00000105290			Aplp1 (MGI:88046)
chr19	35887952	35902303	19q13.2	19q13.12	618887	NFKBID, IKBNS	Nuclear factor kappa-B inhibitor, delta	NFKBID	84807	ENSG00000167604			Nfkbid (MGI:3041243)
chr19	35902529	35904377	19q13.1	19q13.12	604089	DAP10	DNAX-activation protein 10	HCST	10870	ENSG00000126264			Hcst (MGI:1344360)
chr19	35904403	35908295	19q13.1	19q13.12	604142	TYROBP, DAP12, PLOSL1	TYRO protein tyrosine kinase-binding protein	TYROBP	7305	ENSG00000011600		Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3), Autosomal recessive	Tyrobp (MGI:1277211)
chr19	35936374	35946624	19q13.2	19q13.12	612809	LRFN3, SALM4	Leucine-rich repeat and fibronectin type III domain-containing protein 3	LRFN3	79414	ENSG00000126243			Lrfn3 (MGI:2442512)
chr19	35995188	35996312	19q12-q13.2	19q13.12	612848	SDHAF1, MC2DN2	Succinate dehydrogenase complex assembly factor 1	SDHAF1	644096	ENSG00000205138		Mitochondrial complex II deficiency, nuclear type 2, 619166 (3), Autosomal recessive	Sdhaf1 (MGI:1915582)
chr19	36003307	36008813	19q13.12	19q13.12	615535	SYNE4, NESP4, C19orf46, DFNB76	Spectrin repeat-containing nuclear envelope protein 4	SYNE4	163183	ENSG00000181392		Deafness, autosomal recessive 76, 615540 (3), Autosomal recessive	Syne4 (MGI:2141950)
chr19	36009120	36014239	19q13.12	19q13.12	613304	ALKBH6, ABH6	AlkB homolog 6	ALKBH6	84964	ENSG00000239382			Alkbh6 (MGI:2142037)
chr19	36014660	36032873	19q13	19q13.12	607382	CLIP3, CLIPR59	CAP-GLY domain-containing linker protein 3	CLIP3	25999	ENSG00000105270			Clip3 (MGI:1923936)
chr19	36034984	36054762	19q13.12	19q13.12	612536	THAP8	THAP domain-containing protein 8	THAP8	199745	ENSG00000161277			
chr19	36054897	36111145	19q13.12	19q13.12	613583	WDR62, C19orf14, MCPH2	WD repeat-containing protein 62	WDR62	284403	ENSG00000075702		Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3), Autosomal recessive	Wdr62 (MGI:1923696)
chr19	36111143	36113711	19q13.1	19q13.12	616442	OVOL3	ovo-like 3	OVOL3	728361	ENSG00000105261			Ovol3 (MGI:2388075)
chr19	36113709	36114875	19q12	19q13.12	180662	POLR2I	Polymerase (RNA) II (DNA directed) polypeptide I, 14.5kD	POLR2I	5438	ENSG00000105258			Polr2i (MGI:1917170)
chr19	36114967	36125941	19q13.11-q13.12	19q13.12	601303	CKAP1	Cytoskeleton-associated protein 1	TBCB	1155	ENSG00000105254			Tbcb (MGI:1913661)
chr19	36140066	36150353	19q13.12	19q13.12	114170	CAPNS1, CAPN4, PPH6	Calpain, small subunit 1	CAPNS1	826	ENSG00000126247		Pulmonary hypertension, primary, 6, 620777 (3), Autosomal recessive	Capns1 (MGI:88266)
chr19	36150922	36152447	19q13.12	19q13.12	123995	COX7A1, COX7AM	Cytochrome c oxidase, subunit VIIa, polypeptide-1, muscle	COX7A1	1346	ENSG00000161281			Cox7a1 (MGI:1316714)
chr19	36182060	36245928	19q13.12	19q13.12	614275	ZNF565	Zinc finger protein 565	ZNF565	147929	ENSG00000196357			Zfp84 (MGI:107780)
chr19	36214723	36238768	19q13.1	19q13.12	601505	ZNF146, OZF	Zinc finger protein-146	ZNF146	7705	ENSG00000167635			Zfp146 (MGI:1347092)
chr19	36334453	36379201	19q13.12	19q13.12	620163	ZFP14, ZNF531	ZFP14 zinc finger protein	ZFP14	57677	ENSG00000142065			Zfp14 (MGI:99160)
chr19	36510687	36528271	19q13.12	19q13.12	613749	ZNF260, PEX1	Zinc finger protein 260	ZNF260	339324	ENSG00000254004			Zfp260 (MGI:1347071)
chr19	36605313	36634114	19q13.13	19q13.12	609516	ZNF382, KS1	Zinc finger protein 382	ZNF382	84911	ENSG00000161298			Zfp382 (MGI:3588204)
chr19	36636618	36666837	19q13.4	19q13.12	608640	ZNF461, GIOT1	Zinc finger protein-461	ZNF461	92283	ENSG00000197808			
chr19	36916332	36997932	19q13.12	19q13.12	617566	ZNF568, ZFP568	Zinc finger protein 568	ZNF568	374900	ENSG00000198453			
chr19	37007902	37130368	19q13.12	19q13.12	617216	ZNF420, APAK	Zinc finger protein 420	ZNF420	147923	ENSG00000197050			Zfp420 (MGI:2444666)
chr19	37218214	37248740	19q13.12	19q13.12	619499	ZNF383	Zinc finger protein 383	ZNF383	163087	ENSG00000188283			Zfp383 (MGI:1920979)
chr19	37312837	37364455	19q13.12	19q13.12	165250	ZNF875, HKR1	Zinc finger protein 875	ZNF875	284459	ENSG00000181666			
chr19	37411157	37469265	19q13.12	19q13.12	613904	ZNF569	Zinc finger protein 569	ZNF569	148266	ENSG00000196437			Zfp74 (MGI:107784)
chr19	37551374	37614179	19q13.13	19q13.12	613903	ZNF540	Zinc finger protein 540	ZNF540	163255	ENSG00000171817			
chr19	37631006	37656261	19q13.12	19q13.12	617317	ZFP30, ZNF745, KIAA0961	Zinc finger protein 30, mouse, homolog of	ZFP30	22835	ENSG00000120784			Zfp30 (MGI:99178)
chr19	37884823	37906697	19q13.13	19q13.13	620274	WDR87	WD repeat-containing protein 87	WDR87	83889	ENSG00000171804			Wdr87-ps (MGI:2149781)
chr19	37907208	38208369	19q13.1	19q13.13-q13.2	616655	SIPA1L3, SPAL3, SPAR3, KIAA0545, CTRCT45	SIPA1-like protein 3	SIPA1L3	23094	ENSG00000105738	mutation identified in 1 CTRCT45 family	?Cataract 45, 616851 (3), Autosomal recessive	Sipa1l3 (MGI:1921456)
chr19	38200001	58617616	19q13.2-q13.4		603855	CFM1	Cystic fibrosis modifier-1		10167			{Meconium ileus in cystic fibrosis, susceptibility to}, 603855 (2)	
chr19	38200001	50900000	19q13.2-q13.3		611097	MRT11	Intellectual developmental disorder, autosomal recessive 11		100101426		between rs2109075 and rs8101149	Intellectual developmental disorder, autosomal recessive 11, 611097 (2), Autosomal recessive	
chr19	38200001	42900000	19q13.2		227050	TEC	Transient erythroblastopenia of childhood		100124696			Transient erythroblastopenia of childhood, 227050 (2), Autosomal recessive	
chr19	38211006	38229695	19q13.13-q13.2	19q13.2	601670	DPF1, NEUD4	D4, zinc, and double PHD fingers family, member 1	DPF1	8193	ENSG00000011332			Dpf1 (MGI:1352748)
chr19	38251237	38256374	19q13.1	19q13.2	608153	PPP1R14A, CPI17	Protein phosphatase 1, regulatory subunit 14A	PPP1R14A	94274	ENSG00000167641			Ppp1r14a (MGI:1931139)
chr19	38264573	38292615	19q13.1	19q13.2	605124	SPINT2, HAI2, DIAR3	Serine protease inhibitor, Kunitz-type, 2	SPINT2	10653	ENSG00000167642		Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3), Autosomal recessive	Spint2 (MGI:1338031)
chr19	38303558	38321887	19p13.3	19q13.2	619109	YIF1B, KABAMAS	YIP1-interacting factor homolog B, membrane-trafficking protein	YIF1B	90522	ENSG00000167645		Kaya-Barakat-Masson syndrome, 619125 (3), Autosomal recessive	Yif1b (MGI:1924504)
chr19	38304251	38305006	19q13.2	19q13.2	619711	C19orf33, H2RSP, IMUP	Chromosome 19 open reading frame 33	C19orf33	64073	ENSG00000167644			2200002D01Rik (MGI:1919525)
chr19	38319845	38332076	19q13.1	19q13.2	603939	KCNK6, TWIK2, TOSS	Potassium channel, subfamily K, member 6	KCNK6	9424	ENSG00000099337			Kcnk6 (MGI:1891291)
chr19	38335830	38370943	19q13.1	19q13.2	613452	CATSPERG	Cation channel, sperm-associated, gamma	CATSPERG	57828	ENSG00000099338			Catsperg1,Catsperg2 (MGI:1923968,MGI:2443617)
chr19	38374571	38383824	19q13.2	19q13.2	617844	PSMD8	Proteasome 26S subunit, non-ATPase, 8	PSMD8	5714	ENSG00000099341			Psmd8 (MGI:1888669)
chr19	38384267	38388384	19q13.2	19q13.2	609966	GGN	Gametogenetin, mouse, homolog of	GGN	199720	ENSG00000179168		Spermatogenic failure 69, 619826 (3), Autosomal recessive	Ggn (MGI:2181461)
chr19	38388697	38399587	19q13.13	19q13.2	609293	SPRED3	Sprouty-related EVH1 domain-containing protein 3	SPRED3	399473	ENSG00000188766			Spred3 (MGI:2142186)
chr19	38409058	38426219	19q13.1	19q13.2	607320	RASGRP4	Ras guanyl nucleotide-releasing protein 4	RASGRP4	115727	ENSG00000171777			Rasgrp4 (MGI:2386851)
chr19	38433691	38587564	19q13.1	19q13.2	180901	RYR1, MHS, KDS, CMYO1A, CMYO1B	Ryanodine receptor-1, skeletal	RYR1	6261	ENSG00000196218		Congenital myopathy 1B, autosomal recessive, 255320 (3), Autosomal recessive; Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia, 117000 (3), Autosomal dominant; King-Denborough syndrome, 619542 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 1}, 145600 (3), Autosomal dominant	Ryr1 (MGI:99659)
chr19	38587641	38617953	19q13.1-q13.4	19q13.2	601983	MAP4K1, HPK1	Mitogen-activated protein kinase kinase kinase kinase 1	MAP4K1	11184	ENSG00000104814			Map4k1 (MGI:1346882)
chr19	38619188	38636954	19q13.2	19q13.2	609596	EIF3K, PLAC24, EIF3S12	Eukaryotic translation initiation factor 3, subunit K	EIF3K	27335	ENSG00000178982			Eif3k (MGI:1921080)
chr19	38647649	38731589	19q13	19q13.2	604638	ACTN4, FSGS1, FSGS	Actinin, alpha-4	ACTN4	81	ENSG00000130402		Glomerulosclerosis, focal segmental, 1, 603278 (3), Autosomal dominant	Actn4 (MGI:1890773)
chr19	38730192	38744693	19q13	19q13.2	608839	CAPN12	Calpain 12	CAPN12	147968	ENSG00000182472			Capn12 (MGI:1891369)
chr19	38770968	38773517	19q13.2	19q13.2	600615	LGALS7	Lectin, galactoside-binding, soluble, 7 (galectin 7)	LGALS7	3963	ENSG00000205076			Lgals7 (MGI:1316742)
chr19	38789200	38791754	19q13.2	19q13.2	617139	LGALS7B	Lectin, galactoside-binding, soluble, 7B	LGALS7B	653499	ENSG00000178934			Lgals7 (MGI:1316742)
chr19	38801674	38812945	19q13.2	19q13.2	602518	LGALS4	Lectin, galactoside-binding, soluble, 4	LGALS4	3960	ENSG00000171747			Lgals4,Lgals6 (MGI:107535,MGI:107536)
chr19	38815422	38831794	19q13	19q13.2	600696	ECH1	Enoyl Coenzyme A hydratase 1, peroxisomal	ECH1	1891	ENSG00000104823			Ech1 (MGI:1858208)
chr19	38836370	38852347	19q13.2	19q13.2	603083	HNRNPL, HNRPL	Heterogeneous nuclear riboprotein 1	HNRNPL	3191	ENSG00000104824			Hnrnpl (MGI:104816)
chr19	38867830	38878275	19q13.2	19q13.2	620678	RINL	Ras and Rab interactor-like protein	RINL	126432	ENSG00000187994			Rinl (MGI:2444024)
chr19	38878555	38899618	19q	19q13.2	604480	SIRT2, SIR2L, SIR2L2	Sirtuin 2	SIRT2	22933	ENSG00000068903			Sirt2 (MGI:1927664)
chr19	38899666	38908889	19q13.1	19q13.2	604495	NFKBIB, IKBB, TRIP9	Nuclear factor of kappa-B inhibitor, beta	NFKBIB	4793	ENSG00000104825			Nfkbib (MGI:104752)
chr19	38908980	38912186	19q13.2	19q13.2	617634	CCER2	Coiled-coil glutamate-rich protein 2	CCER2	643669	ENSG00000262484			Ccer2 (MGI:3645242)
chr19	38915266	38930763	19q13.2	19q13.2	612804	SARS2	Seryl-tRNA synthetase 2	SARS2	54938	ENSG00000104835		Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3), Autosomal recessive	Sars2 (MGI:1919234)
chr19	38930944	38933168	19q13.1	19q13.2	603021	MRPS12, RPSM12	Ribosomal protein, mitochondrial, S12	MRPS12	6183	ENSG00000128626			Mrps12 (MGI:1346333)
chr19	38941401	38975742	19q13.2	19q13.2	609094	FBXO17, FBX17, FBX26, FBG4	F-box only protein 17	FBXO17	115290	ENSG00000269190			Fbxo17 (MGI:1354707)
chr19	39005842	39032549	19q13.2	19q13.2	609099	FBXO27, FBX27, FBG5	F-box only protein 27	FBXO27	126433	ENSG00000161243			Fbxo27 (MGI:2685007)
chr19	39083788	39111493	19q13.2	19q13.2	610490	PAPL, FLJ16165	Purple acid phosphatase, long form	ACP7	390928	ENSG00000183760			Acp7 (MGI:2142121)
chr19	39125786	39182816	19q13.2	19q13.2	605451	PAK4	p21-activated kinase 4	PAK4	10298	ENSG00000130669			Pak4 (MGI:1917834)
chr19	39196964	39201884	19q13.2	19q13.2	615901	NCCRP1, FBXO50	Nonspecific cytotoxic cell receptor protein 1, zebrafish, homolog of	NCCRP1	342897	ENSG00000188505			Nccrp1 (MGI:2685009)
chr19	39202825	39204263	19q13.2	19q13.2	620140	SYCN	Syncollin	SYCN	342898	ENSG00000179751			Sycn (MGI:1915666)
chr19	39243455	39245250	19q13.13	19q13.2	607402	IFNL3, IL28B	Interferon, lambda 3	IFNL3	282617	ENSG00000197110		{Hepatitis C virus infection, response to therapy of}, 609532 (3)	Ifnl2,Ifnl3 (MGI:2450574,MGI:3647279)
chr19	39246314	39248856	19q13.13	19q13.2	615090	IFNL4	Interferon, lambda-4	IFNL4	101180976	ENSG00000272395			
chr19	39268396	39270188	19q13.13	19q13.2	607401	IFNL2, IL28A	Interferon, lambda 2	IFNL2	282616	ENSG00000183709			Ifnl2,Ifnl3 (MGI:2450574,MGI:3647279)
chr19	39296407	39298673	19q13.13	19q13.2	607403	IFNL1, IL29	Interferon, lambda 1	IFNL1	282618	ENSG00000182393			Ifnl2,Ifnl3 (MGI:2450574,MGI:3647279)
chr19	39306566	39320863	19q13.2	19q13.2	612807	LRFN1, SALM2, KIAA1484	Leucine-rich repeat and fibronectin type III domain-containing protein 1	LRFN1	57622	ENSG00000128011			Lrfn1 (MGI:2136810)
chr19	39328359	39336043	19q13.2	19q13.2	604104	GMFG	Glia maturation factor, gamma	GMFG	9535	ENSG00000130755			Gmfg,Gmfg-ps (MGI:1927135,MGI:3704264)
chr19	39342421	39390764	19q13.2	19q13.2	619231	SAMD4B	Sterile alpha motif domain-containing protein 4B	SAMD4B	55095	ENSG00000179134			Samd4b (MGI:2448542)
chr19	39385629	39391106	19q13.2	19q13.2	610506	PAF1, PD2	PAF1 RNA polymerase II-associated factor, S. cerevisiae, homolog of	PAF1	54623	ENSG00000006712			Paf1 (MGI:1923988)
chr19	39391378	39400641	19q13.2	19q13.2	612914	MED29, IXL	Mediator complex subunit 29	MED29	55588	ENSG00000063322			Med29 (MGI:1914474)
chr19	39406847	39409407	19q13.1	19q13.2	190700	ZFP36, TTP	Zfp36, mouse, homolog of	ZFP36	7538	ENSG00000128016			Zfp36 (MGI:99180)
chr19	39412669	39428415	19q13.1	19q13.2	611893	PLEKHG2, CLG, LDAMD	Pleckstrin homology domain- and RhoGEF domain-containing protein G2	PLEKHG2	64857	ENSG00000090924		Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3), Autosomal recessive	Plekhg2 (MGI:2141874)
chr19	39433137	39435949	19q	19q13.2	603675	RPS16	Ribosomal protein S16	RPS16	6217	ENSG00000105193			Rps16 (MGI:98118)
chr19	39445582	39476670	19q13.1-q13.2	19q13.2	602102	SUPT5H, SPT5	SPT5 homolog, DSIF elongation factor subunit	SUPT5H	6829	ENSG00000196235			Supt5 (MGI:1202400)
chr19	39480838	39493779	19q13.2	19q13.2	607381	TIMM50, TIM50, MGCA9	Translocase of inner mitochondrial membrane 50	TIMM50	92609	ENSG00000105197		3-methylglutaconic aciduria, type IX, 617698 (3), Autosomal recessive	Timm50 (MGI:1913775)
chr19	39498947	39508469	19q13	19q13.2	602768	DLL3, SCDO1	Delta-like canonical Notch ligand 3	DLL3	10683	ENSG00000090932		Spondylocostal dysostosis 1, autosomal recessive, 277300 (3), Autosomal recessive	Dll3 (MGI:1096877)
chr19	39515113	39520686	19q13.13	19q13.2	607919	SELENOV, SELV	Selenoprotein V	SELENOV	348303	ENSG00000186838			Selenov (MGI:3608324)
chr19	39530987	39532852	19q13	19q13.2	617355	EID2B	EP300-interacting inhibitor of differentiation 2B	EID2B	126272	ENSG00000176401			Eid2b (MGI:1924095)
chr19	39538707	39540161	19q13.2	19q13.2	609773	EID2, CRI2	EP300-interacting inhibitor of differentiation 2	EID2	163126	ENSG00000176396			Eid2 (MGI:2681174)
chr19	39602524	39607474	19q13.1	19q13.2	608717	LGALS13, GAL13, PP13	Lectin, galactoside-binding, soluble, 13	LGALS13	29124	ENSG00000105198			
chr19	39704481	39709444	19q13.2	19q13.2	607260	PPL13	Placental protein 13-like protein	LGALS14	56891	ENSG00000006659			
chr19	39731255	39738029	19q13.1	19q13.2	153310	CLC	Charcot-Leyden crystal protein	CLC	1178	ENSG00000105205			
chr19	39776453	39786291	19p13.2	19q13.2	618701	LEUTX	Leucine twenty homeobox	LEUTX	342900	ENSG00000213921			
chr19	39825350	39834162	19q12-q13.11	19q13.2	604556	DYRK1B, MIRK, AOMS3	Dual-specificity tyrosine phosphorylation-regulated kinase 1B	DYRK1B	9149	ENSG00000105204		Abdominal obesity-metabolic syndrome 3, 615812 (3), Autosomal dominant	Dyrk1b (MGI:1330302)
chr19	39834458	39846379	19q13.2	19q13.2	134795	FBL	Fibrillarin	FBL	2091	ENSG00000105202			Fbl (MGI:95486)
chr19	39863323	39934634	19q13.2	19q13.2	617553	FCGBP	Fc fragment of IgG-binding protein	FCGBP	8857	ENSG00000275395			Fcgbp,Fcgbpl1 (MGI:2442118,MGI:2444336)
chr19	39971165	39981764	19q13.11-q13.13	19q13.2	602707	PSMC4, TBP7, S6	Proteasome 26S subunit, ATPase, 4	PSMC4	5704	ENSG00000013275			Psmc4 (MGI:1346093)
chr19	40191426	40215575	19q13.1-q13.2	19q13.2	600137	MAP3K10, MLK2, MST	Mitogen-activated protein kinase kinase kinase 10	MAP3K10	4294	ENSG00000130758			Map3k10 (MGI:1346879)
chr19	40222208	40226689	19q13.2	19q13.2	620396	CCNP, CNTD2	Cyclin P	CCNP	79935	ENSG00000105219			
chr19	40230317	40285345	19q13.1-q13.2	19q13.2	164731	AKT2, HIHGHH	AKT serine/threonine kinase 2	AKT2	208	ENSG00000105221		Diabetes mellitus, type II, 125853 (3), Autosomal dominant; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3), Autosomal dominant	Akt2 (MGI:104874)
chr19	40348695	40378485	19q13.2	19q13.2	615698	PLD3, HUK4, SCA46	Phospholipase D family, member 3	PLD3	23646	ENSG00000105223	mutation identified in 1 SCA46 family	?Spinocerebellar ataxia 46, 617770 (3), Autosomal dominant	Pld3 (MGI:1333782)
chr19	40379271	40390181	19q13.2	19q13.2	611712	HIPK4	Homeodomain-interacting protein kinase 4	HIPK4	147746	ENSG00000160396			Hipk4 (MGI:2685008)
chr19	40393764	40414789	19q13.1-q13.2	19q13.2	605725	PRX, CMT4F	Periaxin	PRX	57716	ENSG00000105227		Charcot-Marie-Tooth disease, type 4F, 614895 (3), Autosomal recessive; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant	Prx (MGI:108176)
chr19	40421589	40425992	19q13.2	19q13.2	617850	SERTAD1, TRIPBR1	SERTA domain-containing protein 1	SERTAD1	29950	ENSG00000197019			Sertad1 (MGI:1913438)
chr19	40440844	40444335	19q13.1	19q13.2	612125	SERTAD3, RBT1	SERTA domain-containing 3	SERTAD3	29946	ENSG00000167565			Sertad3 (MGI:2180697)
chr19	40447768	40465745	19q13.13-q13.2	19q13.2	600941	BLVRB, BVRB, FLR	Biliverdin reductase B	BLVRB	645	ENSG00000090013			Blvrb (MGI:2385271)
chr19	40467001	40576464	19q13.13	19q13.2	606214	SPTBN4, QV, NEDHND, CMND	Spectrin, beta, nonerythrocytic, 4 (quivering, mouse, homolog of)	SPTBN4	57731	ENSG00000160460		Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3), Autosomal recessive	Sptbn4 (MGI:1890574)
chr19	40576873	40591397	19q13.2	19q13.2	617322	SHKBP1, SB1	SH3KBP1-binding protein 1	SHKBP1	92799	ENSG00000160410			Shkbp1 (MGI:2385803)
chr19	40593166	40629820	19q13.1-q13.2	19q13.2	604710	LTBP4, LTBP4S, LTBP4L, ARCL1C	Latent transforming growth factor-beta-binding protein 4	LTBP4	8425	ENSG00000090006		Cutis laxa, autosomal recessive, type IC, 613177 (3), Autosomal recessive	Ltbp4 (MGI:1321395)
chr19	40665905	40690651	19q13.13-q13.2	19q13.2	604018	NUMBL, NUMBR, NBL	Numb, Drosophila, homolog-like	NUMBL	9253	ENSG00000105245			Numbl (MGI:894702)
chr19	40691530	40716886	19q13.1	19q13.2	615567	COQ8B, ADCK4, NPHS9	Coenzyme Q8B	COQ8B	79934	ENSG00000123815		Nephrotic syndrome, type 9, 615573 (3), Autosomal recessive	Coq8b (MGI:1924139)
chr19	40717112	40740860	19q13.2	19q13.2	606476	ITPKC	Inositol 1,4,5-trisphosphate 3-kinase C	ITPKC	80271	ENSG00000086544			Itpkc (MGI:2442554)
chr19	40740861	40750477	19q13.2	19q13.2	620093	ACTMAP, C19orf54	Actin maturation protease	ACTMAP	284325	ENSG00000188493			Actmap (MGI:3041247)
chr19	40751203	40765389	19q13.1	19q13.2	182285	SNRPA	Small nuclear ribonucleoprotein polypeptide A	SNRPA	6626	ENSG00000077312			Snrpa (MGI:1855690)
chr19	40775160	40777490	19q13.32-q13.33	19q13.2	601340	MIA	MIA SH3 domain-containing protein	MIA	8190	ENSG00000261857			Mia (MGI:109615)
chr19	40778247	40796942	19q13.2-q13.3	19q13.2	612945	RAB4B	Ras-associated protein RAB4B	RAB4B	53916	ENSG00000167578			Rab4b (MGI:105071)
chr19	40799191	40808434	19q13.2	19q13.2	606424	EGLN2, PHD1, HIFPH1	egl-9 family hypoxia inducible factor 2	EGLN2	112398	ENSG00000269858			Egln2 (MGI:1932287)
chr19	40843541	40850447	19q13.2	19q13.2	122720	CYP2A6, CYP2A3, CYP2A, P450C2A	Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide 6	CYP2A6	1548	ENSG00000255974		{Lung cancer, resistance to}, 211980 (3), Somatic mutation, Autosomal dominant; Coumarin resistance, 122700 (3), Autosomal dominant; {Nicotine addiction, protection from}, 188890 (3)	Cyp2a4,Cyp2a5 (MGI:88596,MGI:88597)
chr19	40875439	40882231	19q13.2	19q13.2	608054	CYP2A7	Cytochrome P450, subfamily IIA, polypeptide 7	CYP2A7	1549	ENSG00000198077			Cyp2a4,Cyp2a5 (MGI:88596,MGI:88597)
chr19	40890826	40900508	19q13.2	19q13.2	601133	CYP2G1P, CYP2G1	Cytochrome P450, family 2, subfamily G, member 1, pseudogene	CYP2G1P	22952	ENSG00000290611			Cyp2g1 (MGI:109612)
chr19	40991282	41018398	19q13.2	19q13.2	123930	CYP2B6, CYP2B, EFVM	Cytochrome P450, family 2, subfamily B, polypeptide 6	CYP2B6	1555	ENSG00000197408	same NotI fragment as CYP2A	{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3); Efavirenz, poor metabolism of, 614546 (3)	Cyp2b10,Cyp2b13,Cyp2b19,Cyp2b23,Cyp2b9 (MGI:107303,MGI:3646735,MGI:88598,MGI:88599,MGI:88600)
chr19	41088451	41096195	19q13.2	19q13.2	608055	CYP2A13	Cytochrome P450, subfamily IIA, polypeptide 13	CYP2A13	1553	ENSG00000197838			Cyp2a4,Cyp2a5 (MGI:88596,MGI:88597)
chr19	41114432	41128381	19q13.2	19q13.2	124070	CYP2F1	Cytochrome P450, subfamily IIF, polypeptide 1	CYP2F1	1572	ENSG00000197446	CYP2A, CYP2B, CYP2F1 in 240kb		Cyp2f2 (MGI:88608)
chr19	41193219	41207539	19q13.2	19q13.2	611529	CYP2S1	Cytochrome P450, family 2, subfamily S, polypeptide 1	CYP2S1	29785	ENSG00000167600			Cyp2s1 (MGI:1921384)
chr19	41219223	41261766	19q13.1-q13.2	19q13.2	109135	AXL	AXL transforming sequence (a receptor tyrosine kinase)	AXL	558	ENSG00000167601			Axl (MGI:1347244)
chr19	41262557	41307787	19q13.2	19q13.2	605800	HNRNPUL1, HNRPUL1, E1BAP5	Heterogeneous nuclear ribonucleoprotein U-like 1	HNRNPUL1	11100	ENSG00000105323			Hnrnpul1 (MGI:2443517)
chr19	41330323	41353922	19q13.1	19q13.2	190180	TGFB1, DPD1, CED, IBDIMDE	Transforming growth factor, beta-1	TGFB1	7040	ENSG00000105329		Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3), Autosomal recessive; Camurati-Engelmann disease, 131300 (3), Autosomal dominant; {Cystic fibrosis lung disease, modifier of}, 219700 (3), Autosomal recessive	Tgfb1 (MGI:98725)
chr19	41354417	41364149	19q13.2	19q13.2	611951	B9D2, MKS10, JBTS34	B9 domain-containing protein 2	B9D2	80776	ENSG00000123810	mutation identified in 1 MKS10 family	?Meckel syndrome 10, 614175 (3), Autosomal recessive; Joubert syndrome 34, 614175 (3), Autosomal recessive	B9d2 (MGI:2387643)
chr19	41363947	41384083	19q13.2	19q13.2	618294	TMEM91, DSPC3	Transmembrane protein 91	TMEM91	641649	ENSG00000142046			Tmem91 (MGI:2443589)
chr19	41386374	41397359	19q13.2	19q13.2	606492	EXOSC5, RRP46, CABAC	Exosome component 5	EXOSC5	56915	ENSG00000077348		Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, 619576 (3), Autosomal recessive	Exosc5 (MGI:107889)
chr19	41397818	41425002	19q13.1-q13.2	19q13.2	608348	BCKDHA, MSUD1A	Branched chain keto acid dehydrogenase E1, alpha polypeptide	BCKDHA	593	ENSG00000248098		Maple syrup urine disease, type Ia, 248600 (3), Autosomal recessive	Bckdha (MGI:107701)
chr19	41425359	41428730	19q13.2	19q13.2	615357	B3GNT8, BGALT15, B3GALT7	Beta-1,3-galactosyltransferase 8	B3GNT8	374907	ENSG00000177191			B3gnt8 (MGI:2385269)
chr19	41431318	41439912	19q13.2	19q13.2	617262	ATP5SL	ATP5S-like protein	DMAC2	55101	ENSG00000105341			Dmac2 (MGI:1913599)
chr19	41454169	41500649	19q13	19q13.2	618192	PCAT19, LINC01190	Prostate cancer-associated transcript 19, noncoding	PCAT19	100505495	ENSG00000267107			
chr19	41549518	41586844	19q13.2	19q13.2	618191	CEACAM21	CEA cell adhesion molecule 21	CEACAM21	90273	ENSG00000007129			Ceacam15,Ceacam9 (MGI:1347247,MGI:2141810)
chr19	41613436	41627074	19q13.2	19q13.2	619159	CEACAM4	CEA cell adhesion molecule 4	CEACAM4	1089	ENSG00000105352			Ceacam12,Psg20,Psg21,Psg22,Psg27,Psg29 (MGI:1891352,MGI:1891353,MGI:1891354,MGI:1891359,MGI:1891361,MGI:1914565)
chr19	41673303	41688270	19q13.2	19q13.2	619160	CEACAM7, CGM2	CEA cell adhesion molecule 7	CEACAM7	1087	ENSG00000007306			Ceacam11,Ceacam13,Ceacam23,Ceacam3,Ceacam5,Psg17,Psg19,Psg20,Psg21,Psg23,Psg25,Psg26,Psg27,Psg28,Psg29 (MGI:1347250,MGI:1347252,MGI:1891352,MGI:1891353,MGI:1891355,MGI:1891357,MGI:1891358,MGI:1891359,MGI:1891360,MGI:1891361,MGI:1914246,MGI:1917035,MGI:1920500,MGI:3646296,MGI:3647191)
chr19	41708626	41730433	19q13.2	19q13.2	114890	CEACAM5, CEA	CEA cell adhesion molecule 5	CEACAM5	1048	ENSG00000105388	proximal to PSG cluster in 1.1-1.2Mb segment		Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	41755530	41772211	19q13.2	19q13.2	163980	CEACAM6, NCA	CEA cell adhesion molecule 6	CEACAM6	4680	ENSG00000086548	in CEA cluster		Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	41796587	41811554	19q13.2	19q13.2	609142	CEACAM3, CGM1, CD66D	CEA cell adhesion molecule 3	CEACAM3	1084	ENSG00000170956			
chr19	41844916	41852333	19q13.2	19q13.2	614806	DMRTC2	Doublesex- and MAB3-related transcription factor C2	DMRTC2	63946	ENSG00000142025			Dmrtc2 (MGI:1918491)
chr19	41860255	41872925	19q13.2	19q13.2	603474	RPS19, DBA, DBA1	Ribosomal protein S19	RPS19	6223	ENSG00000105372		Diamond-Blackfan anemia 1, 105650 (3), Autosomal dominant	Rps19 (MGI:1333780)
chr19	41877279	41881372	19q13.2	19q13.2	112205	CD79A, IGA	CD79A antigen (immunoglobulin-associated alpha)	CD79A	973	ENSG00000105369		Agammaglobulinemia 3, 613501 (3), Autosomal recessive	Cd79a (MGI:101774)
chr19	41883184	41930141	19q13.13	19q13.2	601855	ARHGEF1, LBCL2, IMD62	Rho guanine nucleotide exchange factor, 115-kD	ARHGEF1	9138	ENSG00000076928	mutation identified in 1 IMD62 family	?Immunodeficiency 62, 618459 (3), Autosomal recessive	Arhgef1 (MGI:1353510)
chr19	41956683	41959321	19q13.2	19q13.2	604925	PRA1	Prenylated RAB acceptor 1	RABAC1	10567	ENSG00000105404			Rabac1 (MGI:1201692)
chr19	41966582	41994230	19q13.2	19q13.2	182350	ATP1A3, DYT12, RDP, AHC2, CAPOS, DEE99	ATPase, Na+K+ transporting, alpha-3 polypeptide	ATP1A3	478	ENSG00000105409		Alternating hemiplegia of childhood 2, 614820 (3), Autosomal dominant; Dystonia-12, 128235 (3), Autosomal dominant; CAPOS syndrome, 601338 (3), Autosomal dominant; Developmental and epileptic encephalopathy 99, 619606 (3), Autosomal dominant	Atp1a3 (MGI:88107)
chr19	41998324	42070206	19q13.2	19q13.2	600283	GRIK5	Glutamate receptor, ionotropic, kainate 5	GRIK5	2901	ENSG00000105737			Grik5 (MGI:95818)
chr19	42086110	42197936	19q13.2	19q13.2	164176	POU2F2, OTF2, OCT2	POU domain, class 2, transcription factor 2	POU2F2	5452	ENSG00000028277			Pou2f2 (MGI:101897)
chr19	42198598	42220134	19q13.2	19q13.2	617078	DEDD2, FLAME3	Death effector domain-containing protein 2	DEDD2	162989	ENSG00000160570			Dedd2 (MGI:1914629)
chr19	42220312	42228201	19q13.2	19q13.2	614387	ZNF526, KIAA1951, DENNED	Zinc finger protein 526	ZNF526	116115	ENSG00000167625		Dentici-Novelli neurodevelopmental syndrome, 619877 (3), Autosomal recessive	Zfp526 (MGI:2445181)
chr19	42230190	42242602	19q13.2	19q13.2	606784	GSK3A	Glycogen synthase kinase 3-alpha	GSK3A	2931	ENSG00000105723			Gsk3a (MGI:2152453)
chr19	42247569	42255128	19q13.1	19q13.2	611888	ERF, PE2, CRS4, CHYTS	ETS2 repressor factor	ERF	2077	ENSG00000105722		Craniosynostosis 4, 600775 (3), Autosomal dominant; Chitayat syndrome, 617180 (3), Autosomal dominant	Erf (MGI:109637)
chr19	42268530	42295796	19q13.2	19q13.2	612082	CIC, KIAA0306, MRD45	Capicua transcriptional repressor	CIC	23152	ENSG00000079432		Intellectual developmental disorder, autosomal dominant 45, 617600 (3), Autosomal dominant	Cic (MGI:1918972)
chr19	42297033	42302800	19q13.1	19q13.2	603074	PAFAH1B3	Platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit	PAFAH1B3	5050	ENSG00000079462			Pafah1b3 (MGI:108414)
chr19	42325635	42378765	19q12	19q13.2	604267	MEGF8, EGFL4, CRPT2	Multiple epidermal growth factor-like domains 8	MEGF8	1954	ENSG00000105429		Carpenter syndrome 2, 614976 (3), Autosomal recessive	Megf8 (MGI:2446294)
chr19	42387019	42390297	19q13	19q13.2	611764	CNFN	Cornifelin	CNFN	84518	ENSG00000105427			Cnfn (MGI:1919633)
chr19	42401514	42427388	19q13.1-q13.2	19q13.2	151750	LIPE, LHS, FPLD6	Lipase E, hormone-sensitive	LIPE	3991	ENSG00000079435		Lipodystrophy, familial partial, type 6, 615980 (3), Autosomal recessive	Lipe (MGI:96790)
chr19	42428278	42442946	19q11	19q13.2	611387	CXCL17, VCC1, DMC	Chemokine (C-X-C motif) ligand 17	CXCL17	284340	ENSG00000189377			Cxcl17 (MGI:2387642)
chr19	42507306	42528481	19q13.2	19q13.2	109770	CEACAM1, BGP	CEA cell adhesion molecule 1	CEACAM1	634	ENSG00000079385	in CEA cluster		Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	42580243	42594924	19q13.2	19q13.2	615747	CEACAM8, CD66B, CGM6	CEA cell adhesion molecule 8	CEACAM8	1088	ENSG00000124469			Psg20 (MGI:1891352)
chr19	42721642	42740481	19q13.2	19q13.2	176392	PSG3	Pregnancy-specific beta-1-glycoprotein-3	PSG3	5671	ENSG00000221826			Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	42752686	42765678	19q13.2	19q13.2	176397	PSG8	Pregnancy-specific beta-1-glycoprotein-8	PSG8	440533	ENSG00000124467			Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	42836997	42855718	19q13.2	19q13.2	176399	PSG10P, PSG10, PSG12	Pregnancy-specific beta-1-glycoprotein 10, pseudogene	PSG10P	653492	ENSG00000291235			
chr19	42866464	42879713	19q13.2	19q13.2	176390	PSG1, PSBG1, B1G1, SP1	Pregnancy-specific beta-1-glycoprotein-1	PSG1	5669	ENSG00000231924	distal to CEA		Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	42902086	42917894	19q13.2	19q13.31	176395	PSG6	Pregnancy-specific beta-1-glycoprotein-6	PSG6	5675	ENSG00000170848			Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	42924132	42937207	19q13.2	19q13.31	176396	PSG7	Pregnancy-specific beta-1-glycoprotein-7	PSG7	5676	ENSG00000221878			Ceacam1,Ceacam2,Psg18 (MGI:1347245,MGI:1347246,MGI:1347251)
chr19	43007656	43026469	19q13.2	19q13.31	176401	PSG11, PSG13, PSG14	Pregnancy-specific beta-1-glycoprotein-11	PSG11	5680	ENSG00000243130			
chr19	43064209	43082701	19q13.2	19q13.31	176391	PSG2, PSBG2	Pregnancy-specific beta-1-glycoprotein-2	PSG2	5670	ENSG00000242221			
chr19	43167743	43186536	19q13.2	19q13.31	176394	PSG5	Pregnancy-specific beta-1-glycoprotein-5	PSG5	5673	ENSG00000204941			Ceacam12,Psg20,Psg21,Psg26,Psg27,Psg28 (MGI:1891352,MGI:1891353,MGI:1891358,MGI:1891359,MGI:1891360,MGI:1914565)
chr19	43192702	43205638	19q13.2	19q13.31	176393	PSG4	Pregnancy-specific beta-1-glycoprotein-4	PSG4	5672	ENSG00000243137			Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	43253282	43269530	19q13.2	19q13.31	176398	PSG9, PSG11	Pregnancy-specific beta-1-glycoprotein-9	PSG9	5678	ENSG00000183668			Ceacam1,Ceacam2 (MGI:1347245,MGI:1347246)
chr19	43349056	43349548	19q13.2	19q13.31	605157	PRG1	p53-responsive gene 1		23574				
chr19	43353686	43366081	19q13.2	19q13.31	162860	NB1, PRV1, CD177, HNA2A	Neutrophil-specific antigen 1	CD177	57126	ENSG00000204936			Cd177 (MGI:1916141)
chr19	43388611	43418597	19q13.31	19q13.31	612665	TEX101, SGRG, TES101RP	Testis-expressed gene 101	TEX101	83639	ENSG00000131126			Tex101 (MGI:1930791)
chr19	43460787	43465608	19q13.1-q13.2	19q13.31	609484	LYPD3	LY6/PLAUR domain-containing protein 3	LYPD3	27076	ENSG00000124466			Lypd3 (MGI:1919684)
chr19	43475103	43504746	19q13.31	19q13.31	621041	PHLDB3	Pleckstrin homology-like domain, family B, member 3	PHLDB3	653583	ENSG00000176531			Phldb3 (MGI:3642959)
chr19	43506719	43527201	19q13.32	19q13.31	608451	ETHE1, HSCO, D83198	ETHE1 persulfide dioxygenase	ETHE1	23474	ENSG00000105755		Ethylmalonic encephalopathy, 602473 (3), Autosomal recessive	Ethe1 (MGI:1913321)
chr19	43543311	43575527	19q13.2	19q13.31	194360	XRCC1, SCAR26	X-ray repair cross complementing 1	XRCC1	7515	ENSG00000073050	mutation identified in 1 SCAR26 patient	?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3), Autosomal recessive	Xrcc1 (MGI:99137)
chr19	43584367	43596134	19q13.31	19q13.31	621081	IRGQ	Immunity-related GTPase Q	IRGQ	126298	ENSG00000167378			Irgq (MGI:2667176)
chr19	43622368	43641984	19q13.2	19q13.31	609744	CADM4, IGSF4C, TSLL2, NECL4, SYNCAM4	Cell adhesion molecule 4	CADM4	199731	ENSG00000105767			Cadm4 (MGI:2449088)
chr19	43646095	43670169	19q13	19q13.31	173391	PLAUR, URKR	Plasminogen activator, urokinase, receptor	PLAUR	5329	ENSG00000011422			Plaur (MGI:97612)
chr19	43716076	43720021	19q13.31	19q13.31	620634	IRGC	Immunity-related GTPase cinema	IRGC	56269	ENSG00000124449			Irgc (MGI:2685948)
chr19	43727983	43754962	19q13.31	19q13.31	613176	SMG9, C19orf61, HBMS, NEDITPO	SMG9 nonsense mediated mRNA decay factor	SMG9	56006	ENSG00000105771		Heart and brain malformation syndrome, 616920 (3), Autosomal recessive; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, 619995 (3), Autosomal recessive	Smg9 (MGI:1919247)
chr19	43766533	43780973	19q13.2	19q13.31	602754	KCNN4, KCA4, SK4, DHS2	Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	KCNN4	3783	ENSG00000104783		Dehydrated hereditary stomatocytosis 2, 616689 (3), Autosomal dominant	Kcnn4 (MGI:1277957)
chr19	43795927	43820634	19q13.31	19q13.31	619618	LYPD5, HALDISIN	LY6/PLAUR domain-containing protein 5	LYPD5	284348	ENSG00000159871			Lypd5 (MGI:1924192)
chr19	43912624	43935282	19q13.2	19q13.31	194554	ZNF45, ZNF13, KOX5	Zinc finger protein-45	ZNF45	7596	ENSG00000124459			Zfp94 (MGI:107610)
chr19	43984188	43998326	19q13.2-q13.32	19q13.31	604086	ZNF155	Zinc finger protein-155	ZNF155	7711	ENSG00000204920			
chr19	44002957	44013924	19q13.31	19q13.31	620998	ZNF230	Zinc finger protein 230	ZNF230	7773	ENSG00000159882			
chr19	44025379	44033110	19q13.2	19q13.31	617357	ZNF222	Zinc finger protein 222	ZNF222	7673	ENSG00000159885			
chr19	44094361	44109826	19q13.2-qter	19q13.31	194555	ZNF224, ZNF255, BMZF2, KOX22, ZNF27	Zinc finger protein-224	ZNF224	7767	ENSG00000267680			
chr19	44141554	44160313	19q13.31	19q13.31	604750	ZNF234, ZNF269, HZF4	Zinc finger protein 234	ZNF234	10780	ENSG00000263002			Gm14399,Gm14412,Gm14443,Gm32687,Gm3604,Gm45871,Zfp1005,Zfp1007,Zfp433,Zfp442,Zfp950,Zfp970,Zfp976,Zfp997 (MGI:1920860,MGI:1924450,MGI:2652824,MGI:3036263,MGI:3642406,MGI:3650082,MGI:3651999,MGI:3652002,MGI:3652251,MGI:3652255,MGI:3652324,MGI:3781781,MGI:5591846,MGI:5804986)
chr19	44286348	44305025	19q13.2	19q13.31	604749	ZFP93, ANF270, HZF6	Zinc finger protein 93, mouse, homolog of	ZNF235	9310	ENSG00000159917			Zfp108,Zfp235,Zfp93 (MGI:107611,MGI:1891198,MGI:1929117)
chr19	44326553	44367217	19p13.1-p12	19q13.31	603994	ZNF112	Zinc finger protein-112	ZNF112	7771	ENSG00000062370			Zfp112 (MGI:1929115)
chr19	44426254	44448578	19q13.2	19q13.31	620827	ZNF229	Zinc finger protein 229	ZNF229	7772	ENSG00000278318			
chr19	44474431	44500522	19q13.2	19q13.31	606740	ZNF180	Zinc finger protein-180	ZNF180	7733	ENSG00000167384			Zfp180 (MGI:1923701)
chr19	44643910	44666162	19q13.2-q13.3	19q13.31	173850	PVR, PVS	Polio virus receptor	PVR	5817	ENSG00000073008			Pvr (MGI:107741)
chr19	44665860	44684355	19q13.31	19q13.31	606691	CEACAM19, CEAL1	CEA cell adhesion molecule 19	CEACAM19	56971	ENSG00000186567			Ceacam19 (MGI:2443001)
chr19	44699151	44710718	19q13.31	19q13.31-q13.32	614591	CEACAM16, CEAL2, DFNA4B, DFNB113	CEA cell adhesion molecule 16	CEACAM16	388551	ENSG00000213892		Deafness, autosomal dominant 4B, 614614 (3), Autosomal dominant; Deafness, autosomal recessive 113, 618410 (3), Autosomal recessive	Ceacam16 (MGI:2685615)
chr19	44747705	44760044	19q13	19q13.32	109560	BCL3	BCL3 transcription coactivator	BCL3	602	ENSG00000069399			Bcl3 (MGI:88140)
chr19	44777869	44800652	19q13.2	19q13.32	608453	CBLC	CAS-BR-M murine ecotropic retroviral transforming sequence C	CBLC	23624	ENSG00000142273			Cblc (MGI:1931457)
chr19	44809059	44821421	19q13.2	19q13.32	612773	LU, AU, BCAM	B-cell adhesion molecule	BCAM	4059	ENSG00000187244	linked to SE	[Blood group, Lutheran system], 111200 (3); [Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3), Autosomal recessive	Bcam (MGI:1929940)
chr19	44846297	44889223	19q13.2	19q13.32	600798	NECTIN2, PVRL2, HVEB, PVRR2, PRR2	Nectin 2	NECTIN2	5819	ENSG00000130202			Nectin2 (MGI:97822)
chr19	44891254	44903689	19q13.2	19q13.32	608061	TOMM40, TOM40, PEREC1	Translocase of outer mitochondrial membrane 40	TOMM40	10452	ENSG00000130204			Tomm40 (MGI:1858259)
chr19	44905796	44909393	19q13.2	19q13.32	107741	APOE, AD2, LPG, LDLCQ5	Apolipoprotein E	APOE	348	ENSG00000130203	mutation identified in 1 APOE3-Christchurch patient	Alzheimer disease 2, 104310 (3), Autosomal dominant; Sea-blue histiocyte disease, 269600 (3), Autosomal recessive; {?Alzheimer disease, protection against, due to APOE3-Christchurch}, 607822 (3), Autosomal dominant; {Coronary artery disease, severe, susceptibility to}, 617347 (3); Lipoprotein glomerulopathy, 611771 (3); {?Macular degeneration, age-related}, 603075 (3), Autosomal dominant; Hyperlipoproteinemia, type III, 617347 (3)	Apoe (MGI:88057)
chr19	44914325	44919346	19q13.2	19q13.32	107710	APOC1	Apolipoprotein C-I	APOC1	341	ENSG00000130208			Apoc1 (MGI:88053)
chr19	44942237	44945496	19q13.2	19q13.32	600745	APOC4	Apolipoprotein C-IV	APOC4	346	ENSG00000267467	555bp upstream of APOC2		Apoc4 (MGI:87878)
chr19	44946051	44949565	19q13.2	19q13.32	608083	APOC2	Apolipoprotein C-II	APOC2	344	ENSG00000234906		Hyperlipoproteinemia, type Ib, 207750 (3), Autosomal recessive	Apoc2,Apoc2l (MGI:5753381,MGI:88054)
chr19	44954585	44993341	19q13.3	19q13.32	604783	CLPTM1	Cleft lip and palate-associated transmembrane protein 1	CLPTM1	1209	ENSG00000104853			Clptm1 (MGI:1927155)
chr19	45001464	45038192	19q13.32	19q13.32	604758	RELB, IREL, IMD53	v-rel avian reticuloendotheliosis viral oncogene homolog B	RELB	5971	ENSG00000104856	mutation identified in 1 IMD53 family	?Immunodeficiency 53, 617585 (3), Autosomal recessive	Relb (MGI:103289)
chr19	45039045	45070956	19q13.32	19q13.32	618532	CLASRP, CLASP	CLK4-associating serine/arginine-rich protein	CLASRP	11129	ENSG00000104859			Clasrp (MGI:1855695)
chr19	45071500	45076478	19q13.32	19q13.32	613226	ZNF296, ZFP296, ZNF342	Zinc finger protein 296	ZNF296	162979	ENSG00000170684			Zfp296 (MGI:1926956)
chr19	45075627	45091518	19q13.32	19q13.32	607419	GEMIN7	GEM-associated protein 7	GEMIN7	79760	ENSG00000142252			Gemin7 (MGI:1916981)
chr19	45162933	45178237	19q13.32	19q13.32	610396	TRAPPC6A	Trafficking protein particle complex, subunit 6A	TRAPPC6A	79090	ENSG00000007255			Trappc6a (MGI:1914341)
chr19	45178784	45217083	19q13	19q13.32	609762	BLOC1S3, BLOS3, HPS8	Biogenesis of lysosome-related organelles complex 1, subunit 3	BLOC1S3	388552	ENSG00000189114		Hermansky-Pudlak syndrome 8, 614077 (3), Autosomal recessive	Bloc1s3 (MGI:2678952)
chr19	45212370	45245407	19q13.32	19q13.32	616927	EXOC3L2, XTP7, BMRS	Exocyst complex component 3-like 2	EXOC3L2	90332	ENSG00000283632		Brain malformation renal syndrome, 620943 (3), Autosomal recessive	Exoc3l2 (MGI:1921713)
chr19	45251271	45305284	19q13.2	19q13.32	606495	MARK4, KIAA1860, MARKL1	Map/microtubule affinity-regulating kinase-4	MARK4	57787	ENSG00000007047			Mark4 (MGI:1920955)
chr19	45306413	45322875	19q13	19q13.32	123310	CKM, CKMM	Creatine kinase, muscle type	CKM	1158	ENSG00000104879			Ckm (MGI:88413)
chr19	45340750	45351519	19q13.2-q13.3	19q13.32	601334	KLC3, KLC2L	Kinesin, light chain, 3	KLC3	147700	ENSG00000104892			Klc3 (MGI:1277971)
chr19	45349837	45370573	19q13.2-q13.3	19q13.32	126340	ERCC2, EM9, XPD, COFS2, TTD1	ERCC excision repair 2, TFIIH core complex helicase subunit	ERCC2	2068	ENSG00000104884	< 250kb from ERCC1; mutation identified in 1 COFS2 patient	Xeroderma pigmentosum, group D, 278730 (3), Autosomal recessive; Trichothiodystrophy 1, photosensitive, 601675 (3), Autosomal recessive; ?Cerebrooculofacioskeletal syndrome 2, 610756 (3), Autosomal recessive	Ercc2 (MGI:95413)
chr19	45379638	45406361	19q13.32	19q13.32	607463	PPP1R13L, RAI, IASPP, NKIP1, ARCME	Protein phosphatase 1, regulatory subunit 13-like	PPP1R13L	10848	ENSG00000104881		Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, 620519 (3), Autosomal recessive	Ppp1r13l (MGI:3525053)
chr19	45406644	45410737	19q13.32	19q13.32	107325	POLR1G, CD3EAP, ASE1, PAF49	Polymerase I, RNA, subunit G	POLR1G	10849	ENSG00000117877			Polr1g (MGI:1917583)
chr19	45407334	45451547	19q13.2-q13.3	19q13.32	126380	ERCC1, UV20, COFS4	ERCC excision repair 1, endonuclease non-catalytic subunit	ERCC1	2067	ENSG00000012061	distal to CKM	Cerebrooculofacioskeletal syndrome 4, 610758 (3), Autosomal recessive	Ercc1 (MGI:95412)
chr19	45467996	45475179	19q13.3	19q13.32	164772	FOSB	FOSB protooncogene, AP1 transcription factor subunit	FOSB	2354	ENSG00000125740			Fosb (MGI:95575)
chr19	45478601	45478687	19q13.2-q13.3	19q13.32	165060	TRU-TCA1-1, TRNAU1, TRSP, THMA3	tRNA selenocysteine (anticodon TCA) 1-1	TRU-TCA1-1	7234		pseudogene on 22	Thyroid hormone metabolism, abnormal, 3, 620198 (3), Autosomal recessive	
chr19	45485294	45497047	19q13.3	19q13.32	603183	RTN2, NSPL1, SPG12, HMNR11	Reticulon-2	RTN2	6253	ENSG00000125744		Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, 620854 (3), Autosomal recessive; Spastic paraplegia 12, autosomal dominant, 604805 (3), Autosomal dominant	Rtn2 (MGI:107612)
chr19	45507479	45526983	19q13.2-q13.3	19q13.32	601703	VASP	Vasodilator-stimulated phosphoprotein	VASP	7408	ENSG00000125753			Vasp (MGI:109268)
chr19	45527427	45584802	19q13.2-q13.3	19q13.32	606580	OPA3, MGA3	Outer mitochondrial membrane lipid metabolism regulator OPA3	OPA3	80207	ENSG00000125741		3-methylglutaconic aciduria, type III, 258501 (3), Autosomal recessive; Optic atrophy 3 with cataract, 165300 (3), Autosomal dominant	Opa3 (MGI:2686271)
chr19	45589764	45602212	19q13.2-q13.3	19q13.32	600551	GPR4	G protein-coupled receptor-4	GPR4	2828	ENSG00000177464			Gpr4 (MGI:2441992)
chr19	45609400	45645629	19q13.32	19q13.32	617494	EML2, EMAP2, ELP70	Echinoderm microtubule-associated protein-like 2	EML2	24139	ENSG00000125746			Eml2 (MGI:1919455)
chr19	45668221	45683722	19q13.3	19q13.32	137241	GIPR, PGQTL2	Gastric inhibitory polypeptide receptor	GIPR	2696	ENSG00000010310			Gipr (MGI:1352753)
chr19	45687454	45692316	19q13.32	19q13.32	601061	SNRPD2	Small nuclear ribonucleoprotein polypeptide D2	SNRPD2	6633	ENSG00000125743			Snrpd2 (MGI:98345)
chr19	45710629	45733177	19q13.3	19q13.32	609117	FBXO46, FBX46	F-box only protein 46	FBXO46	23403	ENSG00000177051			Fbxo46 (MGI:2444918)
chr19	45764785	45769252	19q13.3	19q13.32	600963	SIX5, DMAHP, BOR2	SIX homeobox 5	SIX5	147912	ENSG00000177045		Branchiootorenal syndrome 2, 610896 (3)	Six5 (MGI:106220)
chr19	45769717	45782490	19q13.2-q13.3	19q13.32	605377	DMPK, DM, DMK	Dystrophia myotonica-protein kinase	DMPK	1760	ENSG00000104936	distal to APOLP2; distal to CKM	Myotonic dystrophy 1, 160900 (3), Autosomal dominant	Dmpk (MGI:94906)
chr19	45782947	45792845	19q13.3	19q13.32	609857	DMWD, DMRN9	Dystrophia myotonica WD repeat-containing protein	DMWD	1762	ENSG00000185800			Dmwd (MGI:94907)
chr19	45795713	45815308	19q13.3	19q13.32	607548	RSPH6A, RSHL1	Radial spoke head 6 homolog A	RSPH6A	81492	ENSG00000104941			Rsph6a (MGI:1927643)
chr19	45815410	45863147	19q13.3	19q13.32	602388	SPK	Symplekin	SYMPK	8189	ENSG00000125755			Sympk (MGI:1915438)
chr19	45864326	45873797	19q13.2-q13.4	19q13.32	602295	FOXA3, HNF3G	Forkhead box A3 (hepatocyte nuclear factor-3, gamma)	FOXA3	3171	ENSG00000170608			Foxa3 (MGI:1347477)
chr19	45883608	45886141	19q13.32	19q13.32	615331	IRF2BP1	Interferon regulatory factor 2-binding protein 1	IRF2BP1	26145	ENSG00000170604			Irf2bp1 (MGI:2442159)
chr19	45890023	45902613	19q13.32	19q13.32	617861	MYPOP	MYB-related transcription factor, partner of profilin	MYPOP	339344	ENSG00000176182			Mypop (MGI:2446472)
chr19	45913214	45914778	19q13.32	19q13.32	608228	NANOS2, NOS2	NANOS C2HC-type zinc finger 2	NANOS2	339345	ENSG00000188425			Nanos2 (MGI:2676627)
chr19	45933734	45973865	19q13.3	19q13.32	601991	NOVA2, ANOVA, NEDASB	NOVA alternative splicing regulator 2	NOVA2	4858	ENSG00000104967		Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, 618859 (3), Autosomal dominant	Nova2 (MGI:104296)
chr19	45995467	46018616	19q13.32	19q13.32	620676	CCDC61, VFL3	Coiled-coil domain-containing protein 61	CCDC61	729440	ENSG00000104983			Ccdc61 (MGI:2685005)
chr19	46019153	46023053	19q13	19q13.32	604963	PGRP, PGRPS	Peptidoglycan recognition protein	PGLYRP1	8993	ENSG00000008438			Pglyrp1 (MGI:1345092)
chr19	46039182	46077629	19p13.3	19q13.32	610547	IGFL4	IGF-like family member 4	IGFL4	444882	ENSG00000204869			Igfl3 (MGI:2685426)
chr19	46078513	46215362	19p13.3	19q13.32	610545	IGFL2	IGF-like family member 2	IGFL2	147920	ENSG00000204866			Igfl3 (MGI:2685426)
chr19	46120067	46124688	19p13.3	19q13.32	610546	IGFL3	IGF-like family member 3	IGFL3	388555	ENSG00000188624			Igfl3 (MGI:2685426)
chr19	46229742	46231243	19p13.3	19q13.32	610544	IGFL1	IGF-like family member 1	IGFL1	374918	ENSG00000188293			
chr19	46297042	46343433	19q13.2	19q13.32	609976	HIF3A, IPAS	Hypoxia-inducible factor 3, alpha subunit	HIF3A	64344	ENSG00000124440			Hif3a (MGI:1859778)
chr19	46347087	46390975	19q13.3	19q13.32	600658	PPP5C, PP5	Protein phosphatase-5, catalytic subunit	PPP5C	5536	ENSG00000011485			Ppp5c (MGI:102666)
chr19	46410329	46413564	19q13.2-q13.32	19q13.32	614145	CCDC8, 3M3	Coiled-coil domain-containing protein 8	CCDC8	83987	ENSG00000169515		3-M syndrome 3, 614205 (3), Autosomal recessive	Ccdc8 (MGI:3612184)
chr19	46424697	46428936	19q13.32	19q13.32	620934	PNMA8C	PNMA family, member 8C	PNMA8C	110806277	ENSG00000277531			Pnma8c (MGI:5625257)
chr19	46466503	46471563	19q13.32	19q13.32	620933	PNMA8A, PNMAL1	PNMA family, member 8A	PNMA8A	55228	ENSG00000182013			Pnma8a (MGI:1918941)
chr19	46491191	46495867	19q13.32	19q13.32	620159	PNMA8B	PNMA family, member 8B	PNMA8B	57469	ENSG00000204851			Pnma8b (MGI:3645856)
chr19	46601074	46610782	19q13.2-q13.3	19q13.32	114183	CALM3, LQT16, CPVT6	Calmodulin-3	CALM3	808	ENSG00000160014	mutation identified in 1 CPVT6 family	Long QT syndrome 16, 618782 (3), Autosomal dominant; ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782 (3), Autosomal dominant	Calm3 (MGI:103249)
chr19	46610687	46625089	19q13.3	19q13.32	600022	PTGIR	Prostaglandin I2 (prostacyclin) receptor (IP)	PTGIR	5739	ENSG00000160013			Ptgir (MGI:99535)
chr19	46647551	46661182	19q13.3	19q13.32	611112	DACT3	Dapper, antagonist of beta-catenin, 3	DACT3	147906	ENSG00000197380			Dact3 (MGI:3654828)
chr19	46674316	46717114	19q13.3	19q13.32	607074	PRKD2, PKD2	Protein kinase D2	PRKD2	25865	ENSG00000105287			Prkd2 (MGI:2141917)
chr19	46719511	46746450	19q13.32	19q13.32	614767	STRN4, ZIN	Striatin, calmodulin-binding protein 4	STRN4	29888	ENSG00000090372			Strn4 (MGI:2142346)
chr19	46744760	46758575	19q13.3	19q13.32	606596	FKRP, MDC1C, LGMDR9, MDDGA5, MDDGB5, MDDGC5	Fukutin-related protein	FKRP	79147	ENSG00000181027		Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, 606612 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3), Autosomal recessive	Fkrp (MGI:2447586)
chr19	46774883	46788594	19q13.3	19q13.32	109190	SLC1A5, RDRC, M7V1, M7VS1	Solute carrier family 1 (neutral amino acid transporter), member 5 (receptor for RD114/simian type D retroviruses)	SLC1A5	6510	ENSG00000105281			Slc1a5 (MGI:105305)
chr19	46838167	46850846	19q13.2-q13.3	19q13.32	602242	AP2S1, CLAPS2, AP17, HHC3	Adaptor-related protein complex 2, sigma 1 subunit	AP2S1	1175	ENSG00000042753		Hypocalciuric hypercalcemia, type III, 600740 (3), Autosomal dominant	Ap2s1 (MGI:2141861)
chr19	46860997	47005077	19q13.32	19q13.32	605277	ARHGAP35, GRLF1, P190A	Rho GTPase activating protein 35	ARHGAP35	2909	ENSG00000160007			Arhgap35 (MGI:1929494)
chr19	47019837	47045775	19q13.2-q13.3	19q13.32	603346	NPAS1, MOP5	Neuronal PAS domain protein 1	NPAS1	4861	ENSG00000130751			Npas1 (MGI:109205)
chr19	47045909	47048624	19q13.32	19q13.32	620258	TMEM160	Transmembrane protein 160	TMEM160	54958	ENSG00000130748			Tmem160 (MGI:1916344)
chr19	47064187	47113776	19q13.32	19q13.32	619498	ZC3H4, C19orf7	Zinc finger CCCH domain-containing protein 4	ZC3H4	23211	ENSG00000130749			Zc3h4 (MGI:2682314)
chr19	47130835	47210636	19q13.32	19q13.32	613294	SAE1, SUA1, AOS1	SUMO1-activating enzyme, subunit 1	SAE1	10055	ENSG00000142230			Sae1 (MGI:1929264)
chr19	47220824	47232860	19q	19q13.32	605854	PUMA	p53-upregulated modulator of apoptosis	BBC3	27113	ENSG00000105327			Bbc3 (MGI:2181667)
chr19	47307477	47322066	19q13.3-q13.4	19q13.32	113995	C5AR1, C5R1, C5AR	Complement component 5a receptor 1	C5AR1	728	ENSG00000197405			C5ar1 (MGI:88232)
chr19	47332175	47347329	19q13.4	19q13.32	609949	C5AR2, GPF77, C5L2	Complement component 5a receptor 2	C5AR2	27202	ENSG00000134830			C5ar2 (MGI:2442013)
chr19	47349315	47382704	19q13.32	19q13.32	615475	DHX34, KIAA0134	DExH-box helicase 34	DHX34	9704	ENSG00000134815			Dhx34 (MGI:1918973)
chr19	47403124	47422233	19q13.32	19q13.32	619443	MEIS3, MRG2	Meis homeobox 3	MEIS3	56917	ENSG00000105419			Meis3 (MGI:108519)
chr19	47428017	47471893	19q13.32	19q13.32	601901	SLC8A2, NCX2	Solute carrier family 8, member 2 (sodium-calcium exchanger 2)	SLC8A2	6543	ENSG00000118160			Slc8a2 (MGI:107996)
chr19	47475150	47485839	19q13.4	19q13.32	615620	KPTN, 2E4, MRT41	Kaptin	KPTN	11133	ENSG00000118162		Intellectual developmental disorder, autosomal recessive 41, 615637 (3), Autosomal recessive	Kptn (MGI:1890380)
chr19	47484530	47515063	19q13.3	19q13.32-q13.33	603215	NAPA, SNAPA	NSF attachment protein, alpha	NAPA	8775	ENSG00000105402			Napa (MGI:104563)
chr19	47520690	47573309	19q13.33	19q13.33	619942	ZNF541, ZFP41	Zinc finger protein 541	ZNF541	84215	ENSG00000118156			Zfp541 (MGI:3647699)
chr19	47608196	47703277	19q13.3	19q13.33	605690	BICRA, GLTSCR1, CSS12	BRD4-interacting chromatin remodeling complex-associated protein	BICRA	29998	ENSG00000063169		Coffin-Siris syndrome 12, 619325 (3), Autosomal dominant	Bicra (MGI:2154263)
chr19	47713422	47743134	19q13.3	19q13.33	605890	EHD2	EH domain-containing 2	EHD2	30846	ENSG00000024422			Ehd2 (MGI:2154274)
chr19	47745546	47757058	19q13.3	19q13.33	605691	NOP53, GLTSCR2	NOP53 ribosome biogenesis factor	NOP53	29997	ENSG00000105373			Nop53 (MGI:2154441)
chr19	47778703	47784682	19q13.3	19q13.33	603235	SELENOW, SEPW1	Selenoprotein W	SELENOW	6415	ENSG00000178980			Selenow (MGI:1100878)
chr19	47801232	47819051	19q13.32	19q13.33	611166	TPRX1	Tetrapeptide repeat homeobox 1	TPRX1	284355	ENSG00000178928			
chr19	47821937	47843324	19q13.3	19q13.33	602225	CRX, CORD2, CRD, LCA7	Cone-rod homeobox-containing gene	CRX	1406	ENSG00000105392		Leber congenital amaurosis 7, 613829 (3); Cone-rod retinal dystrophy-2, 120970 (3), Autosomal dominant	Crx (MGI:1194883)
chr19	47859235	47861721	19q13.32	19q13.33	620360	TPRX2	Tetrapeptide repeat homeobox 2	TPRX2	503627	ENSG00000259009			
chr19	47870467	47886315	19q13.3	19q13.33	125263	SULT2A1, STD	Sulfotransferase family 2A, dehydroepiandrosterone-preferring, member 1 (DHEA sulfotransferase)	SULT2A1	6822	ENSG00000105398			Sult2a1,Sult2a2,Sult2a3,Sult2a4,Sult2a5,Sult2a6,Sult2a7,Sult2a8 (MGI:107550,MGI:1924221,MGI:3645246,MGI:3645854,MGI:3645873,MGI:3648378,MGI:3648915,MGI:98430)
chr19	47967258	47992170	19q13.32	19q13.33	612213	BSPH1	Binder of sperm protein homolog 1	BSPH1	100131137	ENSG00000188334			Bsph1 (MGI:2685613)
chr19	47994632	48025154	19q13.33	19q13.33	607443	ELSPBP1	Epididymal sperm binding protein 1	ELSPBP1	64100	ENSG00000169393			
chr19	48029383	48044079	19q13.33	19q13.33	607315	CABP5, CABP3	Calcium-binding protein 5	CABP5	56344	ENSG00000105507			Cabp5 (MGI:1352746)
chr19	48047846	48110817	19q13.3	19q13.33	603602	PLA2G4C	Phospholipase A2, group IVC	PLA2G4C	8605	ENSG00000105499			Pla2g4c (MGI:1196403)
chr19	48115445	48170344	19q13.2-q13.3	19q13.33	126391	LIG1, IMD96	Ligase I, DNA, ATP-dependent	LIG1	3978	ENSG00000105486		Immunodeficiency 96, 619774 (3), Autosomal recessive	Lig1 (MGI:101789)
chr19	48203148	48255946	19q13.3	19q13.33	609051	CARD8, TUCAN, KIAA0955, NDPP1, IBD30	Caspase recruitment domain-containing protein 8	CARD8	22900	ENSG00000105483	mutation identified in 1 IBD30 family	?Inflammatory bowel disease (Crohn disease) 30, 619079 (3), Autosomal dominant	
chr19	48270081	48287608	19q13.33	19q13.33	603996	ZNF114	Zinc finger protein-114	ZNF114	163071	ENSG00000178150			
chr19	48296452	48321971	19q13.3	19q13.33	615038	ODAD1, CCDC114, CILD20	Outer dynein arm docking complex subunit 1	ODAD1	93233	ENSG00000105479		Ciliary dyskinesia, primary, 20, 615067 (3), Autosomal recessive	Odad1 (MGI:2446120)
chr19	48325552	48330553	19q13.3	19q13.33	602335	EMP3	Epithelial membrane protein 3	EMP3	2014	ENSG00000142227			Emp3 (MGI:1098729)
chr19	48364268	48376377	19q13.3	19q13.33	608373	SYNGR4	Synaptogyrin 4	SYNGR4	23546	ENSG00000105467			Syngr4 (MGI:1928903)
chr19	48382575	48397412	19q13.33	19q13.33	131235	KDELR1, ERD2, HDEL	KDEL endoplasmic reticulum protein retention receptor 1	KDELR1	10945	ENSG00000105438			Kdelr1 (MGI:1915387)
chr19	48393668	48444931	19q13.1-qter	19q13.33	602717	GRIN2D, NMDAR2D, DEE46	Glutamate receptor, ionotropic, N-methyl-D-aspartate 2D	GRIN2D	2906	ENSG00000105464		Developmental and epileptic encephalopathy 46, 617162 (3), Autosomal dominant	Grin2d (MGI:95823)
chr19	48445983	48457022	19q13.3	19q13.33	610597	GRWD1, GRWD, KIAA1942	Glutamate-rich WD repeat-containing protein 1	GRWD1	83743	ENSG00000105447			Grwd1 (MGI:2141989)
chr19	48455574	48466980	19q13.33	19q13.33	603953	KCNJ14	Potassium inwardly-rectifying channel, subfamily J, member 14	KCNJ14	3770	ENSG00000182324			Kcnj14 (MGI:2384820)
chr19	48469369	48482314	19q13	19q13.33	602488	CYTH2, PSCD2, ARNO, PSCD2L	Cytohesin 2	CYTH2	9266	ENSG00000105443			Cyth2 (MGI:1334255)
chr19	48485271	48513680	19q13.33	19q13.33	619624	LMTK3	Lemur tyrosine kinase 3	LMTK3	114783	ENSG00000142235			Lmtk3 (MGI:3039582)
chr19	48552172	48599427	19q13.3	19q13.33	604125	SULT2B1, ARCI14	Sulfotransferase family 2B, member 1	SULT2B1	6820	ENSG00000088002		Ichthyosis, congenital, autosomal recessive 14, 617571 (3), Autosomal recessive	Sult2b1 (MGI:1926342)
chr19	48606742	48607714	19q13.33	19q13.33	609932	SPACA4, SAMP14	Sperm acrosome-associated protein 4	SPACA4	171169	ENSG00000177202			Spaca4 (MGI:1916613)
chr19	48615331	48619178	19q	19q13.33	604179	RPL18, DBA18	Ribosomal protein L18	RPL18	6141	ENSG00000063177	mutation identified in 1 DBA18 family	?Diamond-Blackfan anemia 18, 618310 (3), Autosomal dominant	Rpl18 (MGI:98003)
chr19	48619506	48630405	19q13.2	19q13.33	607092	SPHK2	Sphingosine kinase 2	SPHK2	56848	ENSG00000063176			Sphk2 (MGI:1861380)
chr19	48630030	48637379	19q13.3	19q13.33	124097	DBP	D site of albumin promoter binding protein	DBP	1628	ENSG00000105516			Dbp (MGI:94866)
chr19	48637946	48646187	19q13.2-q13.3	19q13.33	604644	CA11, CARP2	Carbonic anhydrase XI	CA11	770	ENSG00000063180			Car11 (MGI:1336193)
chr19	48695971	48705951	19q13.3	19q13.33	182100	FUT2, SE, B12QTL1	Fucosyltransferase-2 (secretor)	FUT2	2524	ENSG00000176920	H, SE = alpha-L-fucosyltransferases; from common ancestral genes; tightly linked to FUT1	{Norwalk virus infection, resistance to} (3); {Vitamin B12 plasma level QTL1}, 612542 (3); [Bombay phenotype, digenic], 616754 (3), Autosomal recessive	Fut2,Sec1 (MGI:109374,MGI:1928893)
chr19	48705718	48719725	19q13.33	19q13.33	610349	MAMSTR, MASTR	MEF2-activating SAP transcriptional regulator	MAMSTR	284358	ENSG00000176909			Mamstr (MGI:1921740)
chr19	48720585	48740610	19q13.33	19q13.33	609623	RASIP1, RAIN	Ras-interacting protein 1	RASIP1	54922	ENSG00000105538			Rasip1 (MGI:1917153)
chr19	48740852	48746909	19q13.33	19q13.33	609278	IZUMO1, MGC34799	Izumo sperm-egg fusion protein 1	IZUMO1	284359	ENSG00000182264			Izumo1 (MGI:1920706)
chr19	48748011	48755358	19q13.3	19q13.33	211100	FUT1, H, HH	Fucosyltransferase-1 (Bombay phenotype)	FUT1	2523	ENSG00000174951	SE tightly linked	[Bombay phenotype], 616754 (3), Autosomal recessive	Fut1 (MGI:109375)
chr19	48755524	48758330	19q13	19q13.33	609436	FGF21	Fibroblast growth factor 21	FGF21	26291	ENSG00000105550			Fgf21 (MGI:1861377)
chr19	48795064	48811029	19q13	19q13.33	113530	BCAT2, BCT2, HVLI, BCAT2	Branched chain aminotransferase-2, mitochondrial	BCAT2	587	ENSG00000105552		Hypervalinemia and hyperleucine-isoleucinemia, 618850 (3), Autosomal recessive	Bcat2 (MGI:1276534)
chr19	48813018	48836491	19q13.33	19q13.33	612832	HSD17B14, DHRS10, RETSDR3	17-beta-hydroxysteroid dehydrogenase XIV	HSD17B14	51171	ENSG00000087076			Hsd17b14 (MGI:1913315)
chr19	48837097	48868617	19q13.33	19q13.33	607769	PLEKHA4, PEPP1	Pleckstrin homology domain-containing protein, family A, member 4	PLEKHA4	57664	ENSG00000105559			Plekha4 (MGI:1916467)
chr19	48872421	48876058	19q13.2	19q13.33	611048	PPP1R15A, GADD34	Protein phosphatase 1, regulatory subunit 15A	PPP1R15A	23645	ENSG00000087074			Ppp1r15a (MGI:1927072)
chr19	48880967	48898744	19q13.1	19q13.33	602309	TULP2	TUB-like protein 2	TULP2	7288	ENSG00000104804			Tulp2 (MGI:1861600)
chr19	48900312	48923372	19q13.2-q13.4	19q13.33	601323	NUCB1	Nucleobindin 1	NUCB1	4924	ENSG00000104805			Nucb1 (MGI:97388)
chr19	48932795	48944969	19q13.33	19q13.33	606377	DHDH, HUM2DD	Dimeric dihydrodiol dehydrogenase	DHDH	27294	ENSG00000104808			Dhdh (MGI:1919005)
chr19	48954875	48961798	19q13.3-q13.4	19q13.33	600040	BAX	BCL2-associated X protein	BAX	581	ENSG00000087088		Colorectal cancer, somatic, 114500 (3); T-cell acute lymphoblastic leukemia, somatic, 613065 (3)	Bax (MGI:99702)
chr19	48965309	48966879	19q13.3-q13.4	19q13.33	134790	FTL, NBIA3, LFTD	Ferritin, light chain	FTL	2512	ENSG00000087086		Hyperferritinemia-cataract syndrome, 600886 (3), Autosomal dominant; L-ferritin deficiency, dominant and recessive, 615604 (3), Autosomal recessive, Autosomal dominant; Neurodegeneration with brain iron accumulation 3, 606159 (3), Autosomal dominant	Ftl1,Ftl1-ps2,Ftl2-ps (MGI:5434102,MGI:95589,MGI:95590)
chr19	48968130	48993309	19q13.3	19q13.33	138570	GYS1, GYS	Glycogen synthase	GYS1	2997	ENSG00000104812		Glycogen storage disease 0, muscle, 611556 (3), Autosomal recessive	Gys1 (MGI:101805)
chr19	48993448	49015995	19q13.3	19q13.33	604788	RUVBL2, TIP48, ECP51	RUVB, E. coli, homolog-like 2 (TATA box-binding protein-interacting protein)	RUVBL2	10856	ENSG00000183207			Ruvbl2 (MGI:1342299)
chr19	49015980	49019498	19q13.32	19q13.33	152780	LHB, HH23	Luteinizing hormone, beta polypeptide	LHB	3972	ENSG00000104826	beta chains of FSH, TSH on 11p, 1p, respectively	Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3), Autosomal recessive	Lhb (MGI:96782)
chr19	49022869	49024333	19q13.32	19q13.33	118860	CGB	Chorionic gonadotropin, beta polypeptide	CGB3	1082	ENSG00000104827	at least 5 genes		Lhb (MGI:96782)
chr19	49031890	49033238	19q13.33	19q13.33	608824	CGB2	Chorionic gonadotropin, beta polypeptide 2	CGB2	114336	ENSG00000104818			Lhb (MGI:96782)
chr19	49035569	49036895	19q13.33	19q13.33	608823	CGB1	Chorionic gonadotropin, beta polypeptide 1	CGB1	114335	ENSG00000267631			Lhb (MGI:96782)
chr19	49043848	49045311	19q13.33	19q13.33	608825	CGB5	Chorionic gonadotropin, beta polypeptide 5	CGB5	93659	ENSG00000189052			Lhb (MGI:96782)
chr19	49047638	49049111	19q13.33	19q13.33	608827	CGB8	Chorionic gonadotropin, beta polypeptide 8	CGB8	94115	ENSG00000213030			Lhb (MGI:96782)
chr19	49054274	49057749	19q13.33	19q13.33	608826	CGB7, CGB6	Chorionic gonadotropin, beta polypeptide 7	CGB7	94027	ENSG00000196337			Lhb (MGI:96782)
chr19	49058284	49065035	19q13.3	19q13.33	162662	NTF4 , NTF5, NT5, NT4, GLC1O	Neurotrophin-4 (neurotrophin-4/5)	NTF4	4909	ENSG00000225950	3 genes, ? functional, also on 19	Glaucoma 1, open angle, 1O, 613100 (3)	Ntf5 (MGI:97381)
chr19	49067397	49072699	19q13.3	19q13.33	176268	KCNA7	Potassium voltage-gated channel, shaker-related subfamily, member 7	KCNA7	3743	ENSG00000104848			Kcna7 (MGI:96664)
chr19	49085451	49108604	19q13.3	19q13.33	180740	SNRP70, U1RNP, RNPU1Z, RPU1	Small nuclear ribonucleoprotein, U1 subunit, 70kD	SNRNP70	6625	ENSG00000104852			Snrnp70 (MGI:98341)
chr19	49114370	49118460	19q13.33	19q13.33	612331	LIN7B, VELI2, MALS2	Lin7 homolog B, crumbs cell polarity complex component	LIN7B	64130	ENSG00000104863			Lin7b (MGI:1330858)
chr19	49119544	49151026	19q13.33	19q13.33	603144	PPFIA3, LPNA3	PTPRF-interacting protein alpha-3	PPFIA3	8541	ENSG00000177380			Ppfia3 (MGI:1924037)
chr19	49151198	49155396	19q13.3	19q13.33	142705	HRC	Histidine-rich calcium-binding protein	HRC	3270	ENSG00000130528			Hrc (MGI:96226)
chr19	49157792	49211836	19q13.32	19q13.33	606936	TRPM4, PFHB1B, EKVP6	Transient receptor potential cation channel, subfamily M, member 4	TRPM4	54795	ENSG00000130529		Progressive familial heart block, type IB, 604559 (3), Autosomal dominant; Erythrokeratodermia variabilis et progressiva 6, 618531 (3), Autosomal dominant	Trpm4 (MGI:1915917)
chr19	49289638	49340330	19q13.33	19q13.33	607972	SLC6A16, NT5	Solute carrier family 6 (neurotransmitter transporter), member 16	SLC6A16	28968	ENSG00000063127			Slc6a16 (MGI:2685930)
chr19	49335406	49340606	19p13-q13.4	19q13.33	151523	CD37	Leukocyte surface antigen CD37	CD37	951	ENSG00000104894			Cd37 (MGI:88330)
chr19	49340595	49362416	19q13.3	19q13.33	601729	TEAD2, TEF4	TEA domain family member 2	TEAD2	8463	ENSG00000074219			Tead2 (MGI:104904)
chr19	49360515	49375116	19q13.33	19q13.33	605418	DKKL1, SGY1, SGY	Dickkopf-like 1	DKKL1	27120	ENSG00000104901			Dkkl1 (MGI:1354963)
chr19	49388249	49417990	19q13.33	19q13.33	618125	KASH5, CCDC155, SPGF88, POF22	KASH domain-containing protein 5	KASH5	147872	ENSG00000161609		Spermatogenic failure 88, 620547 (3), Autosomal recessive; Premature ovarian failure 22, 620548 (3), Autosomal recessive	Kash5 (MGI:2687329)
chr19	49422419	49423441	19q13.33	19q13.33	608386	PTH2, TIP39	Parathyroid hormone 2	PTH2	113091	ENSG00000142538			Pth2 (MGI:2152297)
chr19	49423747	49428987	19q13.33	19q13.33	618696	GFY, GOOFY	Golgi-associated olfactory signaling regulator	GFY	100507003	ENSG00000261949			Gfy (MGI:2685427)
chr19	49429401	49441527	19q13	19q13.33	605208	SLC17A7, BNPI, VGLUT1	Solute carrier family 17, (sodium-dependent inorganic phosphate cotransporter), member 7	SLC17A7	57030	ENSG00000104888			Slc17a7 (MGI:1920211)
chr19	49446298	49451814	19q13.33	19q13.33	611480	PIH1D1, NOP17	PIH1 domain-containing protein 1	PIH1D1	55011	ENSG00000104872			Pih1d1 (MGI:1916095)
chr19	49453225	49471050	19q13.33	19q13.33	613358	ALDH16A1	Aldehyde dehydrogenase 16 family, member A1	ALDH16A1	126133	ENSG00000161618			Aldh16a1 (MGI:1916998)
chr19	49474215	49486231	19q13.33	19q13.33	600007	FLT3LG, FLG3L, IMD125	FMS-related tyrosine kinase 3 ligand	FLT3LG	2323	ENSG00000090554	mutation identified in 1 IMD125 family	?Immunodeficiency 125, 620926 (3), Autosomal recessive	Flt3l (MGI:95560)
chr19	49487608	49492308	19q13.3	19q13.33	619225	RPL13A	Ribosomal protein L13A	RPL13A	23521	ENSG00000142541			Rpl13a (MGI:1351455)
chr19	49496434	49499708	19q13.3	19q13.33	180471	RPS11	Ribosomal protein S11	RPS11	6205	ENSG00000142534			Rps11 (MGI:1351329)
chr19	49500785	49500868	19q13.33	19q13.33	611114	MIR150, MIRN150	Micro RNA 150	MIR150	406942	ENSG00000207782			Mir150 (MGI:2676835)
chr19	49512661	49526428	19q13.3	19q13.33	601437	FCGRT	Fc fragment of IgG receptor and transporter	FCGRT	2217	ENSG00000104870			Fcgrt (MGI:103017)
chr19	49528003	49543633	19q13.33	19q13.33	619032	RCN3	Reticulocalbin 3	RCN3	57333	ENSG00000142552			Rcn3 (MGI:1277122)
chr19	49555468	49580556	19q13.33	19q13.33	616759	NOSIP	Nitric oxide synthase-interacting protein	NOSIP	51070	ENSG00000142546			Nosip (MGI:1913644)
chr19	49580617	49591004	19q13.33	19q13.33	604429	PRRG2, PRGP2	Proline-rich gamma-carboxyglutamic acid protein 2	PRRG2	5639	ENSG00000126460			Prrg2 (MGI:1929596)
chr19	49591182	49626439	19q13.33	19q13.33	616633	PRR12, KIAA1205, NOC	Proline-rich protein 12	PRR12	57479	ENSG00000126464		Neuroocular syndrome, 619539 (3), Autosomal dominant	Prr12 (MGI:2679002)
chr19	49635292	49640143	19q13.3-qter	19q13.33	165090	RRAS	Oncogene RRAS	RRAS	6237	ENSG00000126458			Rras (MGI:98179)
chr19	49640465	49658642	19q13.3	19q13.33	617264	SCAF1	SR-related C-terminal domain-associated factor 1	SCAF1	58506	ENSG00000126461			Scaf1 (MGI:2141980)
chr19	49659572	49665857	19q13.3-q13.4	19q13.33	603734	IRF3, IIAE7	Interferon regulatory factor 3	IRF3	3661	ENSG00000126456		{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3), Autosomal dominant	Irf3 (MGI:1859179)
chr19	49665142	49673916	19q13.3	19q13.33	610837	BCL2L12	BCL2-like 12	BCL2L12	83596	ENSG00000126453			Bcl2l12 (MGI:1922986)
chr19	49676153	49688447	19q13	19q13.33	602950	PRMT1, HRMT1L2, IR1B4	Protein arginine methyltransferase 1	PRMT1	3276	ENSG00000126457			Prmt1 (MGI:107846)
chr19	49690662	49713731	19q13.33	19q13.33	608846	CPT1C, SPG73	Carnitine palmitoyltransferase IC	CPT1C	126129	ENSG00000169169	mutation identified in 1 SPG73 family	?Spastic paraplegia 73, autosomal dominant, 616282 (3), Autosomal dominant	Cpt1c (MGI:2446526)
chr19	49739760	49763306	19q13.33	19q13.33	608253	TSKS	Testis-specific kinase substrate	TSKS	60385	ENSG00000126467			Tsks (MGI:1347560)
chr19	49767001	49807114	19q13.3	19q13.33	601026	AP2A1, CLAPA1, ADTAA	Adaptor-related protein complex 2, alpha 1 subunit	AP2A1	160	ENSG00000196961	match to PAC AC006942		Ap2a1 (MGI:101921)
chr19	49806866	49813553	19q13	19q13.33	610622	FUZ, NTD	Fuzzy planar cell polarity protein	FUZ	80199	ENSG00000010361		{Neural tube defects, susceptibility to}, 182940 (3), Autosomal dominant	Fuz (MGI:1917550)
chr19	49818289	49840384	19q13.3	19q13.33	610197	MED25, PTOV2, ARC92, BVSYS	Mediator of RNA polymerase II transcription, subunit 25, S. cerevisiae, homolog of	MED25	81857	ENSG00000104973		Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3), Autosomal recessive	Med25 (MGI:1922863)
chr19	49850705	49860742	19q13.3-q13.4	19q13.33	610195	PTOV1, ACID2	PTOV1 extended AT-hook containg adaptor protein	PTOV1	53635	ENSG00000104960			Ptov1 (MGI:1933946)
chr19	49861204	49867576	19q13.4	19q13.33	605610	PNKP, PNK, MCSZ, AOA4, CMT2B2	Polynucleotide kinase 3' phosphatase	PNKP	11284	ENSG00000039650	mutation identified in 1 CMT2B2 family	?Charcot-Marie-Tooth disease, type 2B2, 605589 (3), Autosomal recessive; Ataxia-oculomotor apraxia 4, 616267 (3), Autosomal recessive; Microcephaly, seizures, and developmental delay, 613402 (3), Autosomal recessive	Pnkp (MGI:1891698)
chr19	49869033	49878356	19q13.33	19q13.33	610221	AKT1S1, PRAS40	AKT1 substrate 1, proline-rich	AKT1S1	84335	ENSG00000204673			Akt1s1 (MGI:1914855)
chr19	49877702	49888750	19q13.33	19q13.33	616659	TBC1D17	TBC1 domain family, member 17	TBC1D17	79735	ENSG00000104946			Tbc1d17 (MGI:2449973)
chr19	49889654	49929504	19q13.3-q13.4	19q13.33	609742	IL4I1, FIG1	Interleukin 4-induced gene 1	IL4I1	259307	ENSG00000104951			Il4i1,Il4i1b (MGI:109552,MGI:5439399)
chr19	49906825	49929504	19q13.33	19q13.33	605815	NUP62, SNDI, IBSN	Nucleoporin, 62-kD	NUP62	23636	ENSG00000213024		Striatonigral degeneration, infantile, 271930 (3), Autosomal recessive	Nup62 (MGI:1351500)
chr19	49928906	49933935	19q13.3	19q13.33	606398	ATF5, ATFX	Activating transcription factor 5	ATF5	22809	ENSG00000169136			Atf5 (MGI:2141857)
chr19	49948985	49961172	19q13.3-q13.4	19q13.33	607157	SIGLEC11	Sialic acid-binding immunoglobulin-like lectin 11	SIGLEC11	114132	ENSG00000161640	pseudogene 8kb upstream		Siglecg (MGI:2443630)
chr19	49976468	50025372	4p15.33	19q13.33	619771	VRK3	VRK serine/threonine kinase 3	VRK3	51231	ENSG00000105053			Vrk3 (MGI:2182465)
chr19	50026005	50048776	19q13.33	19q13.33	617908	ZNF473, ZFP100, KIAA1141	Zinc finger protein 473	ZNF473	25888	ENSG00000142528			Zfp473 (MGI:2442697)
chr19	50152548	50163281	19q13.33	19q13.33	618895	IZUMO2	IZUMO family, member 2	IZUMO2	126123	ENSG00000161652			Izumo2 (MGI:1922760)
chr19	50203622	50310540	19q13.33	19q13.33	608568	MYH14, KIAA2034, DFNA4A, PNMHH	Myosin, heavy chain 14, nonmuscle	MYH14	79784	ENSG00000105357	mutation identified in 1 PNMHH family	?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3), Autosomal dominant; Deafness, autosomal dominant 4A, 600652 (3), Autosomal dominant	Myh14 (MGI:1919210)
chr19	50311937	50333536	19q13.3-q13.4	19q13.33	176264	KCNC3, SCA13	Potassium voltage-gated channel, Shaw-related subfamily, member 3	KCNC3	3748	ENSG00000131398		Spinocerebellar ataxia 13, 605259 (3), Autosomal dominant	Kcnc3 (MGI:96669)
chr19	50358477	50365639	19q13.33	19q13.33	605631	NAPA, NAP1, SNAPA	Napsin A	NAPSA	9476	ENSG00000131400			Napsa (MGI:109365)
chr19	50376457	50383388	19q13.3	19q13.33	600380	NR1H2, UNR	Nuclear receptor subfamily 1, group H, member 2 (ubiquitously-expressed nuclear receptor)	NR1H2	7376	ENSG00000131408			Nr1h2 (MGI:1352463)
chr19	50384323	50418018	19q13.3-q13.4	19q13.33	174761	POLD1, CRCS10, MDPL, IMD120	Polymerase (DNA directed), delta 1, catalytic subunit	POLD1	5424	ENSG00000062822		Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3), Autosomal dominant; Immunodeficiency 120, 620836 (3), Autosomal recessive; {Colorectal cancer, susceptibility to, 10}, 612591 (3), Autosomal dominant	Pold1 (MGI:97741)
chr19	50418938	50431314	19q13.3-q13.4	19q13.33	606802	SPIB	SPIB transcription factor	SPIB	6689	ENSG00000269404			Spib (MGI:892986)
chr19	50432892	50466321	19q13.33	19q13.33	160793	MYBPC2, MYBPCF	Myosin-binding protein C, fast type	MYBPC2	4606	ENSG00000086967			Mybpc2 (MGI:1336170)
chr19	50466788	50476848	19q13.33	19q13.33	619890	GARIN5A, GARIL5	Golgi-associated Rab2 interactor 5A	GARIN5A	112703	ENSG00000142530			Garin5a (MGI:1922788)
chr19	50476507	50490871	19q13.33	19q13.33	614545	EMC10, C19orf63, HSS1, HSM1, NEDDFAS	ER membrane protein complex subunit 10	EMC10	284361	ENSG00000161671		Neurodevelopmental disorder with dysmorphic facies and variable seizures, 619264 (3), Autosomal recessive	Emc10 (MGI:1916933)
chr19	50505998	50511191	19q13.33	19q13.33	615324	JOSD2	Josephin domain-containing protein 2	JOSD2	126119	ENSG00000161677			Josd2 (MGI:1913374)
chr19	50621977	50658105	19q	19q13.33	600327	SYT3	Synaptotagmin-3	SYT3	84258	ENSG00000213023			Syt3 (MGI:99665)
chr19	50659255	50719802	19q13.33	19q13.33	604999	SHANK1, SSTRIP	SH3 and multiple ankyrin repeat domains 1	SHANK1	50944	ENSG00000161681			Shank1 (MGI:3613677)
chr19	50723364	50725708	19q13.3	19q13.33	604713	CLEC11A, SCGF, LSLCL	C-type lectin domain family 11, member A	CLEC11A	6320	ENSG00000105472			Clec11a (MGI:1298219)
chr19	50770464	50771732	19q13.3	19q13.33	603195	GPR32	G protein-coupled receptor-32	GPR32	2854	ENSG00000142511			
chr19	50790415	50795219	19q13	19q13.33	606362	ACP4, ACPT, AI1J	Acid phosphatase 4	ACP4	93650	ENSG00000142513		Amelogenesis imperfecta, type IJ, 617297 (3), Autosomal recessive	Acp4 (MGI:3644563)
chr19	50797704	50804594	19q13	19q13.33	618864	C19orf48P, C19orf48	Chromosome 19 open reading frame 48, pseudogene	C19orf48P	84798	ENSG00000293495			2410002F23Rik (MGI:1914226)
chr19	50819146	50823787	19q13.4	19q13.33	147910	KLK1, KLKR	Kallikrein 1	KLK1	3816	ENSG00000167748	~10cM distal to APOC2	[Kallikrein, decreased urinary activity of], 615953 (3)	Egfbp2,Klk1,Klk1b1,Klk1b11,Klk1b16,Klk1b21,Klk1b22,Klk1b24,Klk1b26,Klk1b27,Klk1b3,Klk1b4,Klk1b5,Klk1b8,Klk1b9 (MGI:102850,MGI:891980,MGI:891981,MGI:891982,MGI:892018,MGI:892019,MGI:892020,MGI:892021,MGI:892022,MGI:892023,MGI:95291,MGI:95292,MGI:95293,MGI:97320,MGI:97322)
chr19	50825289	50833574	19q13.4	19q13.33	610601	KLK15	Kallikrein-related peptidase 15	KLK15	55554	ENSG00000174562			Klk15 (MGI:2447533)
chr19	50854915	50860764	19q13.4	19q13.33	176820	KLK3, APS, PSA	Kallikrein-related peptidase 3	KLK3	354	ENSG00000142515	probably with cluster KLK1, KLK2		Klk1,Klk1b1,Klk1b11,Klk1b16,Klk1b21,Klk1b22,Klk1b24,Klk1b26,Klk1b27,Klk1b3,Klk1b4,Klk1b5,Klk1b8,Klk1b9 (MGI:102850,MGI:891980,MGI:891981,MGI:891982,MGI:892018,MGI:892019,MGI:892020,MGI:892021,MGI:892022,MGI:892023,MGI:95291,MGI:95293,MGI:97320,MGI:97322)
chr19	50873439	50880567	19q13.4	19q13.33	147960	KLK2	Kallikrein-related peptidase 2	KLK2	3817	ENSG00000167751	12kb from APS		Egfbp2,Klk1,Klk1b1,Klk1b11,Klk1b16,Klk1b21,Klk1b22,Klk1b24,Klk1b26,Klk1b27,Klk1b3,Klk1b4,Klk1b5,Klk1b8,Klk1b9 (MGI:102850,MGI:891980,MGI:891981,MGI:891982,MGI:892018,MGI:892019,MGI:892020,MGI:892021,MGI:892022,MGI:892023,MGI:95291,MGI:95292,MGI:95293,MGI:97320,MGI:97322)
chr19	50900001	58617616	19q13.4-qter		102699	AAVS1	Adeno-associated virus integration site-1		17				
chr19	50900001	58617616	19q13.4		611959	HPC15	Prostate cancer, hereditary, 15		100188868		associated with rs2735839	{Prostate cancer, hereditary, 15}, 611959 (2)	
chr19	50900001	58617616	19q13.4		604937	KIR2DL2, NKAT6	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	KIR2DL2	3803				Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	50900001	58617616	19q13.4		615727	KIR2DL5B	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B	KIR2DL5B	553128				Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	50900001	58617616	19q13.4		604952	KIR2DS1	Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	KIR2DS1	3806				Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	50900001	58617616	19q13.4		604953	KIR2DS2, NKAT5	Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	KIR2DS2	100132285				Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	50900001	58617616	19q13.4		604954	KIR2DS3, NKAT7	Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	KIR2DS3	3808				Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	50900001	58617616	19q13.4		604956	KIR2DS5, NKAT9, CD158G	Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5	KIR2DS5	3810				Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	50900001	58617616	19q13.4		620778	KIR3DS1, NKAT10, CD158E2	Killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1	KIR3DS1	3813				Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	50900001	58617616	19q13.4		604818	LILRA3, LIR4, ILT6, HM43	Leukocyte immunoglobulin-like receptor, subfamily A, member 3	LILRA3	11026				Lilra6,Pira12,Pira13,Pira2,Pirb (MGI:1195969,MGI:1195970,MGI:3705216,MGI:3709645,MGI:894311)
chr19	50900001	58617616	19q13.4		612884	MENOQ2	Menopause, natural, age at, QTL2		100302517		associated with rs1172822, rs2384687, rs1551562, rs897798	{Menopause, natural, age at, QTL2}, 612884 (2)	
chr19	50906351	50911395	19q13.4	19q13.41	603767	KLK4, EMSP1, PRSS17, AI2A1	Kallikrein-related peptidase 4	KLK4	9622	ENSG00000167749		Amelogenesis imperfecta, type IIA1, 204700 (3), Autosomal recessive	Klk4 (MGI:1861379)
chr19	50943303	50953038	19q13.4	19q13.41	605643	KLK5, SCTE, KLKL2	Kallikrein-related peptidase 5	KLK5	25818	ENSG00000167754			Klk5 (MGI:1915918)
chr19	50958631	50969591	19q13.4	19q13.41	602652	KLK6, PRSS9, ZYME	Kallikrein-related peptidase 6	KLK6	5653	ENSG00000167755			Klk6 (MGI:1343166)
chr19	50976468	50984064	19q13.41	19q13.41	604438	LKL7, PRSS6, SCCE	Kallikrein-related peptidase 7	KLK7	5650	ENSG00000169035			Klk7 (MGI:1346336)
chr19	50996008	51001604	19q13.4	19q13.41	605644	KLK8, TADG14, PRSS19	Kallikrein-related peptidase 8	KLK8	11202	ENSG00000129455			Klk8 (MGI:1343327)
chr19	51002508	51009592	19q13.4	19q13.41	605504	KLK9, KLKL3	Kallikrein-related peptidase 9	KLK9	284366	ENSG00000213022			Klk9 (MGI:1921082)
chr19	51012739	51020097	19q13.4	19q13.41	602673	KLK10, PRSSL1, NES1	Kallikrein-related peptidase 10	KLK10	5655	ENSG00000129451			Klk10 (MGI:1916790)
chr19	51022236	51027991	19q13.4	19q13.41	604434	KLK11, PRSS20, TLSP, IEKD	Kallikrein-related peptidase 11	KLK11	11012	ENSG00000167757		Ichthyosis with erythrokeratoderma, 620507 (3), Autosomal dominant	Klk11 (MGI:1929977)
chr19	51029094	51035002	19q13.4	19q13.41	605539	KLK12, KLKL5	Kallikrein-related peptidase 12	KLK12	43849	ENSG00000186474			Klk12 (MGI:1916761)
chr19	51055626	51065679	19q13.4	19q13.41	605505	KLK13, KLKL4	Kallikrein-related peptidase 13	KLK13	26085	ENSG00000167759			Klk13 (MGI:3615275)
chr19	51077494	51084210	19q13.4	19q13.41	606135	KLK14	Kallikrein-related peptidase 14	KLK14	43847	ENSG00000129437			Klk14 (MGI:2447564)
chr19	51097606	51108409	19q13.33	19q13.41	612694	CTU1, ATPBD3	Cytothiouridylase subunit 1	CTU1	90353	ENSG00000142544			Ctu1 (MGI:2385277)
chr19	51119778	51136263	19q13.4	19q13.41	605640	SIGLEC9	Sialic acid-binding immunoglobulin-like lectin 9	SIGLEC9	27180	ENSG00000129450			Siglece (MGI:1932475)
chr19	51142301	51153526	19q13.3	19q13.41	604410	SIGLEC7, AIRM1	Sialic acid-binding immunoglobulin-like lectin 7	SIGLEC7	27036	ENSG00000168995			Siglece (MGI:1932475)
chr19	51211076	51240016	19q13.3-q13.4	19q13.41	159590	CD33	CD33 antigen (gp67)	CD33	945	ENSG00000105383			Cd33 (MGI:99440)
chr19	51311644	51330891	19q13.41	19q13.41	618861	IGLON5	IGLON family, member 5	IGLON5	402665	ENSG00000142549			Iglon5 (MGI:2686277)
chr19	51331541	51342139	19q13.41	19q13.41	617740	VSIG10L	V-set and immunoglobulin domains-containing protein 10-like	VSIG10L	147645	ENSG00000186806			Vsig10l (MGI:1922940)
chr19	51345155	51366388	19q13.3	19q13.41	130410	ETFB, MADD	Electron transfer flavoprotein, beta polypeptide	ETFB	2109	ENSG00000105379		Glutaric acidemia IIB, 231680 (3), Autosomal recessive	Etfb (MGI:106098)
chr19	51371620	51372654	19q13.41	19q13.41	606008	NKG7, GIG1	Natural killer cell group 7 sequence	NKG7	4818	ENSG00000105374			Nkg7 (MGI:1931250)
chr19	51379909	51387974	19q13.4	19q13.41	154045	LIM2, MP19, CTRCT19	Lens intrinsic protein 2, 19kD	LIM2	3982	ENSG00000105370	same cosmid as ETFB	Cataract 19, multiple types, 615277 (3), Autosomal recessive, Autosomal dominant	Lim2 (MGI:104698)
chr19	51410020	51417642	19q13.4	19q13.41	606091	SIGLEC10	Sialic acid-binding immunoglobulin-like lectin 10	SIGLEC10	89790	ENSG00000142512			Siglecg (MGI:2443630)
chr19	51450997	51458454	19q13.33-q13.41	19q13.41	605639	SIGLEC8, SAF2, SIGLEC8L	Sialic acid-binding immunoglobulin-like lectin 8	SIGLEC8	27181	ENSG00000105366			Siglece,Siglecf (MGI:1932475,MGI:2681107)
chr19	51491227	51501800	19q13.4	19q13.41	606094	SIGLEC12, SIGLECL1, S2V, SLG	Sialic acid-binding immunoglobulin-like lectin 12	SIGLEC12	89858	ENSG00000254521			Siglece (MGI:1932475)
chr19	51517819	51531670	19q13.3	19q13.41	604405	SIGLEC6, CD33L, CD33L1, OBBP1	Sialic acid-binding immunoglobulin-like lectin 6	SIGLEC6	946	ENSG00000105492			Cd33 (MGI:99440)
chr19	51571283	51592510	19q13.4	19q13.41	601139	ZNF175, OTK18	Zinc finger protein-175	ZNF175	7728	ENSG00000105497			Zfp175,Zfp715,Zfp819 (MGI:1917180,MGI:1921650,MGI:2652821)
chr19	51610960	51630401	19q13.3	19q13.41	604200	SIGLEC5, CD33L2, OBBP2	Sialic acid-binding Ig-like lectin 5	SIGLEC5	8778	ENSG00000268500			Siglecf (MGI:2681107)
chr19	51639478	51646825	19q13.41	19q13.41	618132	SIGLEC14	Sialic acid-binding immunoglobulin-like lectin 14	SIGLEC14	100049587	ENSG00000254415			Siglecf (MGI:2681107)
chr19	51682686	51713143	19q13.41	19q13.41	618945	SPACA6	Sperm acrosome-associated protein 6	SPACA6	147650	ENSG00000182310			Spaca6 (MGI:1922452)
chr19	51692612	51692681	19q13.41	19q13.41	614510	MIR99B	Micro RNA 99B	MIR99B	407056	ENSG00000207550			Mir99b (MGI:2676913)
chr19	51692786	51692864	19q13.41	19q13.41	611250	MIRLET7E, LET7E	Micro RNA Let7e	MIRLET7E	406887	ENSG00000198972			Mirlet7e (MGI:2676797)
chr19	51693254	51693339	19q13.33	19q13.41	611191	MIR125A, MIRN125A	Micro RNA 125A	MIR125A	406910	ENSG00000208008			Mir125a (MGI:2676809)
chr19	51713112	51723991	19q13.3-q13.4	19q13.41	601463	HAS1	Hyaluronan synthase 1	HAS1	3036	ENSG00000105509			Has1 (MGI:106590)
chr19	51745172	51751878	19q13.4	19q13.41	136537	FPR1	Formyl peptide receptor-1	FPR1	2357	ENSG00000171051			Fpr1 (MGI:107443)
chr19	51761180	51770531	19q13.3-q13.4	19q13.41	136538	FPR2, FPRL1, FPRH1, LXA4R, HM63	Formyl peptide receptor 2	FPR2	2358	ENSG00000171049			Fpr-rs3,Fpr-rs4,Fpr-rs6,Fpr-rs7,Fpr2,Fpr3 (MGI:1194495,MGI:1278317,MGI:1278318,MGI:1278319,MGI:2448176,MGI:2448177)
chr19	51795157	51826190	19q13.3-q13.4	19q13.41	136539	FPR3, FPRL2, FPRH2	Formyl peptide receptor 3	FPR3	2359	ENSG00000187474			Fpr3 (MGI:1194495)
chr19	51889235	51905017	19q13.41	19q13.41	611903	ZNF649	Zinc finger protein 649	ZNF649	65251	ENSG00000198093			
chr19	51964340	51986840	19q13.41	19q13.41	605422	ZNF350, ZBRK1	Zinc finger protein 350	ZNF350	59348	ENSG00000256683			
chr19	52031378	52048838	19q13.41	19q13.41	620554	ZNF432	Zinc finger protein 432	ZNF432	9668	ENSG00000256087			Gm14399,Gm14412,Gm14443,Gm32687,Gm3604,Gm45871,Zfp1005,Zfp1007,Zfp433,Zfp442,Zfp950,Zfp970,Zfp976,Zfp997 (MGI:1920860,MGI:1924450,MGI:2652824,MGI:3036263,MGI:3642406,MGI:3650082,MGI:3651999,MGI:3652002,MGI:3652251,MGI:3652255,MGI:3652324,MGI:3781781,MGI:5591846,MGI:5804986)
chr19	52190052	52229518	19q13.4	19q13.41	605983	PPP2R1A, MRD36, HJS2	Protein phosphatase 2, structural/regulatory subunit A, alpha	PPP2R1A	5518	ENSG00000105568		Houge-Janssens syndrome 2, 616362 (3), Autosomal dominant	Ppp2r1a (MGI:1926334)
chr19	52297169	52325922	19q13.41	19q13.41	613910	ZNF480	Zinc finger protein 480	ZNF480	147657	ENSG00000198464			
chr19	52397849	52418401	19q13.41	19q13.41	615580	ZNF528, KIAA1827	Zinc finger protein 528	ZNF528	84436	ENSG00000167555			
chr19	52527668	52568753	19q13.41	19q13.41	620970	ZNF808, PAGEN3	Zinc finger protein 808	ZNF808	388558	ENSG00000198482		Pancreatic agenesis 3, 620991 (3), Autosomal recessive	
chr19	52596684	52600152	19q13.3-q13.4	19q13.41	604079	ZNF137	Zinc finger protein-137	ZNF137P	7696				
chr19	52612377	52690496	19q13.3-q13.4	19q13.41	194558	ZNF83	Zinc finger protein-83	ZNF83	55769	ENSG00000167766			
chr19	52797408	52821633	19q13.4	19q13.41	620466	ZNF28, KOX24	Zinc finger protein 28	ZNF28	7576	ENSG00000198538			Gm14399,Gm14412,Gm14443,Gm32687,Gm3604,Gm45871,Zfp1005,Zfp1007,Zfp433,Zfp442,Zfp708,Zfp712,Zfp87,Zfp950,Zfp970,Zfp976,Zfp997 (MGI:107768,MGI:1920860,MGI:1924450,MGI:1925501,MGI:2652824,MGI:3036263,MGI:3040674,MGI:3642406,MGI:3650082,MGI:3651999,MGI:3652002,MGI:3652251,MGI:3652255,MGI:3652324,MGI:3781781,MGI:5591846,MGI:5804986)
chr19	52838010	52857619	19q13.4	19q13.41	616841	ZNF468	Zinc finger protein 468	ZNF468	90333	ENSG00000204604			
chr19	52859491	52904320	19q13.3-q13.4	19q13.41	606427	ZNF320	Zinc finger protein 320	ZNF320	162967	ENSG00000182986			
chr19	53066614	53103422	19q13.3-q13.4	19q13.41-q13.42	600398	ZNF160	Zinc finger protein-160	ZNF160	90338	ENSG00000170949			Zfp160 (MGI:108187)
chr19	53107879	53132910	19q13.41	19q13.42	619506	ZNF415	Zinc finger protein 415	ZNF415	55786	ENSG00000170954			
chr19	53289601	53291434	19q13.4	19q13.42	621072	BIRC8, ILP2	Baculoviral IAP repeat-containing protein 8	BIRC8	112401	ENSG00000293247			
chr19	53503235	53580269	19q13.3-q13.4	19q13.42	606043	ZNF331, ZNF463	Zinc finger protein-331	ZNF331	55422	ENSG00000130844			
chr19	53601114	53637014	19q13.42	19q13.42	611165	DPRX	Divergent-paired related homeobox	DPRX	503834	ENSG00000204595	many pseudogenes		
chr19	53666679	53666762	19q13.42	19q13.42	620571	MIR512-1	Micro RNA 512-1	MIR512-1	574458	ENSG00000207645	in C19MC		
chr19	53669157	53669254	19q13.42	19q13.42	620572	MIR512-2	Micro RNA 512-2	MIR512-2	574459	ENSG00000207644	in C19MC		
chr19	53671968	53672040	19q13.42	19q13.42	620643	MIR1323	Micro RNA 1323	MIR1323	100302255	ENSG00000221017	in C19MC		
chr19	53674197	53674320	19q13.42	19q13.42	620584	MIR498	Micro RNA 498	MIR498	574460	ENSG00000207869	in C19MC		
chr19	53675711	53675797	19q13.42	19q13.42	620573	MIR520E	Micro RNA 520E	MIR520E	574461	ENSG00000207599	in C19MC		
chr19	53679003	53679085	19q13.42	19q13.42	620574	MIR515-1	Micro RNA 515-1	MIR515-1	574462	ENSG00000207616	in C19MC		
chr19	53679940	53680023	19q13.42	19q13.42	620575	MIR519E	Micro RNA 519E	MIR519E	574463	ENSG00000207810	in C19MC		
chr19	53682159	53682245	19q13.42	19q13.42	620585	MIR520F	Micro RNA 520F	MIR520F	574464	ENSG00000283540	in C19MC		
chr19	53685009	53685091	19q13.42	19q13.42	620586	MIR515-2	Micro RNA 515-2	MIR515-2	574465	ENSG00000207615	in C19MC		
chr19	53686469	53686555	19q13.42	19q13.42	620587	MIR519C	Micro RNA 519C	MIR519C	574466	ENSG00000207788	in C19MC		
chr19	53688481	53688567	19q13.42	19q13.42	620644	MIR1283-1	Micro RNA 1283-1	MIR1283-1	100302265	ENSG00000221421			
chr19	53690881	53690965	19q13.42	19q13.42	620588	MIR520A	Micro RNA 520A	MIR520A	574467	ENSG00000207594	in C19MC		
chr19	53694393	53694475	19q13.42	19q13.42	620589	MIR526B	Micro RNA 526B	MIR526B	574468	ENSG00000207580	in C19MC		
chr19	53695213	53695293	19q13.42	19q13.42	620591	MIR519B	Micro RNA 519B	MIR519B	574469	ENSG00000207825	in C19MC		
chr19	53697533	53697617	19q13.42	19q13.42	620592	MIR525	Micro RNA 525	MIR525	574470	ENSG00000207711	in C19MC		
chr19	53698385	53698471	19q13.42	19q13.42	620593	MIR523	Micro RNA 523	MIR523	574471	ENSG00000283455	in C19MC		
chr19	53700015	53700101	19q13.42	19q13.42	620594	MIR518F	Micro RNA 518F	MIR518F	574472	ENSG00000207706	in C19MC		
chr19	53701227	53701287	19q13.42	19q13.42	620595	MIR520B	Micro RNA 520B	MIR520B	574473	ENSG00000207722	in C19MC		
chr19	53702737	53702819	19q13.42	19q13.42	620596	MIR518B	Micro RNA 518B	MIR518B	574474	ENSG00000207862	in C19MC		
chr19	53706252	53706336	19q13.42	19q13.42	620597	MIR526A1	Micro RNA 526A1	MIR526A1	574475	ENSG00000207629	in C19MC		
chr19	53707453	53707539	19q13.42	19q13.42	615908	MIR520C	Micro RNA 520C	MIR520C	574476	ENSG00000207738			
chr19	53708735	53708835	19q13.42	19q13.42	620598	MIR518C	Micro RNA 518C	MIR518C	574477	ENSG00000283490	in C19MC		
chr19	53711002	53711088	19q13.42	19q13.42	620599	MIR524	Micro RNA 524	MIR524	574478	ENSG00000283289			
chr19	53712268	53712354	19q13.42	19q13.42	620600	MIR517A	MicroRNA 517A	MIR517A	574479	ENSG00000207734			
chr19	53713347	53713434	19q13.42	19q13.42	614247	MIR519D, MIRN519D	Micro RNA 519D	MIR519D	574480	ENSG00000207981			
chr19	53716594	53716680	19q13.42	19q13.42	620611	MIR521-2	Micro RNA 521-2	MIR521-2	574481	ENSG00000207549	in C19MC		
chr19	53720096	53720182	19q13.42	19q13.42	620612	MIR520D	Micro RNA 520D	MIR520D	574482	ENSG00000207735	in C19MC		
chr19	53721076	53721142	19q13.42	19q13.42	620613	MIR517B	Micro RNA 517B	MIR517B	574483	ENSG00000207837	in C19MC		
chr19	53722166	53722255	19q13.42	19q13.42	616272	MIR520G	Micro RNA 520G	MIR520G	574484	ENSG00000207799			
chr19	53725442	53725526	19q13.42	19q13.42	620614	MIR516B2	Micro RNA 516B2	MIR516B2	574485	ENSG00000207925			
chr19	53726922	53726986	19q13.42	19q13.42	620615	MIR526A2	Micro RNA 625A2	MIR526A2	574486	ENSG00000211532			
chr19	53729838	53729925	19q13.42	19q13.42	620616	MIR518E	Micro RNA 518E	MIR518E	574487	ENSG00000207987	in C19MC		
chr19	53731006	53731090	19q13.42	19q13.42	620617	MIR518A1	Micro RNA 518A1	MIR518A1	574488	ENSG00000207803	in C19MC		
chr19	53734877	53734963	19q13.42	19q13.42	620618	MIR518D	Micro RNA 518D	MIR518D	574489	ENSG00000283330			
chr19	53736845	53736934	19q13.42	19q13.42	620619	MIR516B1	Micro RNA 516B1	MIR516B1	574490	ENSG00000207946	in C19MC		
chr19	53739333	53739419	19q13.42	19q13.42	620620	MIR518A2	Micro RNA 518A2	MIR518A2	574491	ENSG00000207699	in C19MC		
chr19	53741313	53741407	19q13.42	19q13.42	620621	MIR517C	Micro RNA 517C	MIR517C	574492	ENSG00000207838			
chr19	53742512	53742599	19q13.42	19q13.42	614755	MIR520H	Micro RNA 520H	MIR520H	574493	ENSG00000207861			
chr19	53748636	53748722	19q13.42	19q13.42	620622	MIR521-1	Micro RNA 521-1	MIR521-1	574494	ENSG00000207634			
chr19	53751211	53751297	19q13.42	19q13.42	620623	MIR522	Micro RNA 522	MIR522	574495	ENSG00000283685	in C19MC		
chr19	53752397	53752481	19q13.42	19q13.42	620624	MIR519A1	Micro RNA 519A1	MIR519A1	574496	ENSG00000207992	in C19MC		
chr19	53754018	53754102	19q13.42	19q13.42	620625	MIR527	Micro RNA 527	MIR527	574497	ENSG00000207979	in C19MC		
chr19	53756741	53756830	19q13.42	19q13.42	620626	MIR516A1	Micro RNA 516A1	MIR516A1	574498	ENSG00000207767			
chr19	53758232	53758318	19q13.42	19q13.42	620645	MIR1283-2	Micro RNA 1283-2	MIR1283-2	100302205	ENSG00000221548			
chr19	53761133	53761222	19q13.42	19q13.42	620627	MIR516A2	Micro RNA 516A2	MIR516A2	574499	ENSG00000207620	in C19MC		
chr19	53762344	53762430	19q13.42	19q13.42	620628	MIR519A2	Micro RNA 519A2	MIR519A2	574500	ENSG00000284362	in C19MC		
chr19	53787675	53787741	19q13.41	19q13.42	612043	MIR371A	Micro RNA 371A	MIR371A	442916	ENSG00000199031			
chr19	53787890	53787956	19q13.41	19q13.42	612044	MIR372, MIRN372	Micro RNA 372	MIR372	442917	ENSG00000199095			
chr19	53788705	53788773	19q13.41	19q13.42	611954	MIR373, MIRN373	Micro RNA 373	MIR373	442918	ENSG00000199143			
chr19	53793584	53824403	19q13.4	19q13.42	609648	NLRP12, NALP12, PYPAF7, RNO, FCAS2	NLR family, pyrin domain containing 12	NLRP12	91662	ENSG00000142405		Familial cold autoinflammatory syndrome 2, 611762 (3), Autosomal dominant	Nlrp12 (MGI:2676630)
chr19	53865628	53876435	19q13.33-q13.4	19q13.42	609959	MYADM	Myeloid-associated differentiation marker	MYADM	91663	ENSG00000179820			Myadm (MGI:1355332)
chr19	53881094	53907652	19q13.4	19q13.42	176980	PRKCG, PKCC, PKCG, SCA14	Protein kinase C, gamma polypeptide	PRKCG	5582	ENSG00000126583		Spinocerebellar ataxia 14, 605361 (3), Autosomal dominant	Prkcg (MGI:97597)
chr19	53909278	53943950	19q13.4	19q13.42	606899	CACNG7	Calcium channel, voltage-dependent, gamma-7 subunit	CACNG7	59284	ENSG00000105605			Cacng7 (MGI:1932374)
chr19	53962937	53990215	19q13.4	19q13.42	606900	CACNG8	Calcium channel, voltage-dependent, gamma-8 subunit	CACNG8	59283	ENSG00000142408			Cacng8 (MGI:1932376)
chr19	53991149	54012666	19q13.4	19q13.42	606898	CACNG6	Calcium channel, voltage-dependent, gamma-6 subunit	CACNG6	59285	ENSG00000130433			Cacng6 (MGI:1859168)
chr19	54040825	54063897	19q13.4	19q13.42	616804	VSTM1, SIRL1	V-SET and transmembrane domains-containing protein 1	VSTM1	284415	ENSG00000189068			
chr19	54069895	54081365	19q13.4	19q13.42	616802	TARM1	T cell-interacting activating receptor on myeloid cells 1	TARM1	441864	ENSG00000248385			Tarm1 (MGI:2442280)
chr19	54094668	54100803	19q13.4	19q13.42	606862	OSCAR	Osteoclast-associated receptor	OSCAR	126014	ENSG00000170909			Oscar (MGI:2179720)
chr19	54102855	54107568	19q13.42	19q13.42	603832	NDUFA3	NADH-ubiquinone oxidoreductase subunit A3	NDUFA3	4696	ENSG00000170906			Ndufa3 (MGI:1913341)
chr19	54107020	54115657	19q13.42	19q13.42	609519	TFPT, FB1	TCF3 fusion partner	TFPT	29844	ENSG00000105619			Tfpt (MGI:1916964)
chr19	54115754	54131713	19q13.4	19q13.42	606419	PRPF31, PRP31, RP11	Pre-mRNA processing factor 11	PRPF31	26121	ENSG00000105618		Retinitis pigmentosa 11, 600138 (3), Autosomal dominant	Prpf31 (MGI:1916238)
chr19	54137762	54155681	19q13.4	19q13.42	604910	CNOT3, NOT3, IDDSADF	CCR4-NOT transcription complex, subunit 3	CNOT3	4849	ENSG00000088038		Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 (3), Autosomal dominant	Cnot3 (MGI:2385261)
chr19	54160108	54173160	19q13.42	19q13.42	617181	TMC4	Transmembrane channel-like protein 4	TMC4	147798	ENSG00000167608			Tmc4 (MGI:2669035)
chr19	54173415	54189580	19q13.4	19q13.42	606048	MBOAT7, BB1, LENG4, MRT57	Membrane bound O-acyltransferase domain containing 7	MBOAT7	79143	ENSG00000125505		Intellectual developmental disorder, autosomal recessive 57, 617188 (3), Autosomal recessive	Mboat7 (MGI:1924832)
chr19	54189441	54194532	19q13.4	19q13.42	608754	TSEN34, PCH2C, LENG5, SEN34	tRNA splicing endonuclease, subunit 34	TSEN34	79042	ENSG00000170892	mutation identified in 1 PCH2C patient	?Pontocerebellar hypoplasia type 2C, 612390 (3), Autosomal recessive	Tsen34 (MGI:1913328)
chr19	54200858	54207647	19q13.4	19q13.42	603631	RPS9	Ribosomal protein S9	RPS9	6203	ENSG00000170889			Rps9 (MGI:1924096)
chr19	54216278	54223007	19q13.4	19q13.42	604820	LILRB3, LIR3, ILT5, HL9	Leukocyte immunoglobulin-like receptor, subfamily B, member 3	LILRB3	11025	ENSG00000204577			Lilra6,Pira1,Pira12,Pira13,Pira2,Pira6,Pirb (MGI:1195969,MGI:1195970,MGI:1195971,MGI:1195974,MGI:3705216,MGI:3709645,MGI:894311)
chr19	54249421	54257273	19q13.2	19q13.42	604814	LILRB5, LIR8	Leukocyte immunoglobulin-like receptor, subfamily B, member 5	LILRB5	10990	ENSG00000105609			Pirb (MGI:894311)
chr19	54273812	54281110	19q13.4	19q13.42	604815	LILRB2, LIR2, ILT4, MIR10	Leukocyte immunoglobulin-like receptor, subfamily B, member 2	LILRB2	10288	ENSG00000131042			Pirb (MGI:894311)
chr19	54307070	54313166	19q13.4	19q13.42	606047	LILRA9, ILT11, CD85F, LIR9	Leukocyte immunoglobulin-like receptor, subfamily A, member 5	LILRA5	353514	ENSG00000187116			Lilra5 (MGI:3647196)
chr19	54333185	54339162	19q13.42	19q13.42	607517	LILRA4, ILT7	Leukocyte immunoglobulin-like receptor, subfamily A, member 4	LILRA4	23547	ENSG00000239961			Lilra6,Pira12,Pira13,Pira2 (MGI:1195969,MGI:1195970,MGI:3705216,MGI:3709645)
chr19	54351384	54376088	19q13.4	19q13.42	602992	LAIR1	Leukocyte-associated immunoglobulin-like receptor 1	LAIR1	3903	ENSG00000167613			Lair1 (MGI:105492)
chr19	54415464	54436904	19q13.4	19q13.42	605784	TTYH1	Tweety family member 1	TTYH1	57348	ENSG00000167614			Ttyh1 (MGI:1889007)
chr19	54449199	54462016	19q13.42	19q13.42	616575	LENG8, KIAA1932	Leukocyte receptor cluster gene 8	LENG8	114823	ENSG00000167615			Leng8 (MGI:2142195)
chr19	54465026	54473296	19q13.42	19q13.42	609171	CDC42EP5, CEP5, BORG3	CDC42 effector protein 5	CDC42EP5	148170	ENSG00000167617			Cdc42ep5 (MGI:1929745)
chr19	54502831	54510687	19q13.42	19q13.42	602993	LIAR2, CD306	Leukocyte-associated immunoglobulin-like receptor 2	LAIR2	3904	ENSG00000167618			Lair1 (MGI:105492)
chr19	54572988	54590287	19q13.4	19q13.42	604812	LILRA2, LIR7, ILT1	Leukocyte immunoglobulin-like receptor, subfamily A, member 2	LILRA2	11027	ENSG00000239998			Lilra6,Pira12,Pira13,Pira2 (MGI:1195969,MGI:1195970,MGI:3705216,MGI:3709645)
chr19	54593632	54602381	19q13.2	19q13.42	604810	LILRA1, LIR6	Leukocyte immunoglobulin-like receptor, subfamily A, member 1	LILRA1	11024	ENSG00000104974			Lilra6,Pira12,Pira13,Pira2 (MGI:1195969,MGI:1195970,MGI:3705216,MGI:3709645)
chr19	54616322	54638022	19q13.4	19q13.42	604811	LILRB1, LIR1, ILT2, MIR7, CD85	Leukocyte immunoglobulin-like receptor, subfamily B, member 1	LILRB1	10859	ENSG00000104972			Pirb (MGI:894311)
chr19	54662985	54668718	19q13.4	19q13.42	604821	LILRB4, LIR5, ILT3, HM18	Leukocyte immunoglobulin-like receptor, subfamily B, member 4	LILRB4	11006	ENSG00000186818			Lilrb4a,Lilrb4b (MGI:102701,MGI:102702)
chr19	54724442	54736632	19q13.4	19q13.42	610095	KIR3KL3, KIRC1, KIR3DL7, KIR44	Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	KIR3DL3	115653	ENSG00000242019			Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	54738513	54753052	19q13.4	19q13.42	604938	KIR2DL3, NKAT2	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	KIR2DL3	3804	ENSG00000243772			Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	54769793	54784322	19q13.4	19q13.42	604936	KIR2DL1, NKAT1	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	KIR2DL1	3802	ENSG00000125498			Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	54786362	54790418	19q13.4	19q13.42	610604	KIR3DP1, CD158C, KIRX, KIR48, KIR2DS6	Killer cell immunoglobulin-like receptor, three domains, pseudogene	KIR3DP1	548594	ENSG00000264257	functional in some individuals		
chr19	54803610	54814517	19q13.4	19q13.42	604945	KIR2DL4, KIR103AS	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	KIR2DL4	3805	ENSG00000189013			Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	54816468	54830778	19q13.4	19q13.42	604946	KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1	Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	KIR3DL1	3811	ENSG00000167633			Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	54832707	54848575	19q13.4	19q13.42	604955	KIR2DS4, NKAT8	Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	KIR2DS4	3809	ENSG00000221957			Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	54850443	54867207	19q13.4	19q13.42	604947	KIR3DL2, NKAT4	Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	KIR3DL2	3812	ENSG00000240403			Kir3dl1,Kir3dl2 (MGI:2652397,MGI:3612791)
chr19	54874235	54891420	19q13.4	19q13.42	147045	FCAR	Fc fragment of IgA, receptor for	FCAR	2204	ENSG00000186431			
chr19	54898198	54938208	19q13.42	19q13.42	604530	NCR1, LY94, NKP46	Natural cytotoxicity triggering receptor 1 (lymphocyte antigen 94, mouse, homolog of)	NCR1	9437	ENSG00000189430			Ncr1 (MGI:1336212)
chr19	54923515	54966243	19q13.4	19q13.42	609661	NLRP7, NALP7, NOD12, PYPAF3, HYDM	NLR family pyrin-domain containing 7	NLRP7	199713	ENSG00000167634		Hydatidiform mole, recurrent, 1, 231090 (3), Autosomal recessive	Nlrp2 (MGI:3041206)
chr19	54965284	55001138	19q13.4	19q13.42	609364	NLRP2, NALP2, PAN1, PYPAF2, OZEMA18	NLR family pyrin-domain containing 2	NLRP2	55655	ENSG00000022556		Oocyte/zygote/embryo maturation arrest 18, 620332 (3), Autosomal recessive	Nlrp2 (MGI:3041206)
chr19	55013705	55038264	19q13.4	19q13.42	605546	GP6, GPIV, BDPLT11	Glycoprotein VI, platelet	GP6	51206	ENSG00000088053		Bleeding disorder, platelet-type, 11, 614201 (3), Autosomal recessive	Gp6 (MGI:1889810)
chr19	55075869	55087923	19q13.4	19q13.42	614987	EPS8L1, EPS8R1	EPS8-like protein 1	EPS8L1	54869	ENSG00000131037			Eps8l1 (MGI:1914675)
chr19	55090918	55117637	19q13.3-q13.4	19q13.42	613245	PPP1R12C, MBS85	Protein phosphatase 1, regulatory subunit 12C	PPP1R12C	54776	ENSG00000125503			Ppp1r12c (MGI:1924258)
chr19	55132698	55149206	19q13.4	19q13.42	191041	TNNT1, ANM, NEM5	Troponin-T1, skeletal, slow	TNNT1	7138	ENSG00000105048		Nemaline myopathy 5C, autosomal dominant, 620389 (3), Autosomal dominant; Nemaline myopathy 5A, autosomal recessive, severe infantile, 605355 (3), Autosomal recessive; Nemaline myopathy 5B, autosomal recessive, childhood-onset, 620386 (3), Autosomal recessive	Tnnt1 (MGI:1333868)
chr19	55151767	55157732	19q13.4	19q13.42	191044	TNNI3, CMH7, CMD2A, RCM1, CMD1FF	Troponin-I, cardiac	TNNI3	7137	ENSG00000129991	mutation identified in 1 CMD2A family	?Cardiomyopathy, dilated, 2A, 611880 (3), Autosomal recessive; Cardiomyopathy, hypertrophic, 7, 613690 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 1, 115210 (3), Autosomal dominant; Cardiomyopathy, dilated, 1FF, 613286 (3)	Tnni3 (MGI:98783)
chr19	55158661	55166722	19q13.4	19q13.42	614566	DNAAF3, PF22, DAB1, CILD2	Dynein, axonemal, assembly factor 3	DNAAF3	352909	ENSG00000167646		Ciliary dyskinesia, primary, 2, 606763 (3), Autosomal recessive	Dnaaf3 (MGI:3588207)
chr19	55171196	55180289	19q13.42	19q13.42	600782	SYT5	Synaptotagmin-5	SYT5	6861	ENSG00000129990			Syt5 (MGI:1926368)
chr19	55181247	55209501	19q13.4	19q13.42	602510	PTPRH	Protein tyrosine phosphatase, receptor type, H	PTPRH	5794	ENSG00000080031			Ptprh (MGI:3026877)
chr19	55226638	55228763	19q13.42	19q13.42	617806	TMEM86B	Transmembrane protein 86B	TMEM86B	255043	ENSG00000180089			Tmem86b (MGI:1915505)
chr19	55228218	55259017	19q13.42	19q13.42	610875	PPP6R1, SAPS1, PP6R1, KIAA1115	Protein phosphatase 6, regulatory subunit 1	PPP6R1	22870	ENSG00000105063			Ppp6r1 (MGI:2442163)
chr19	55262223	55280383	19q13.42	19q13.42	612939	HSPBP1	Heat-shock 70kD protein-binding protein 1	HSPBP1	23640	ENSG00000133265			Hspbp1 (MGI:1913495)
chr19	55283997	55312562	19q13.4	19q13.42	609235	BRSK1, KIAA1811	BR serine/threonine kinase 1	BRSK1	84446	ENSG00000160469			Brsk1 (MGI:2685946)
chr19	55309444	55325341	19q13.42	19q13.42	617291	TMEM150B, DRAM3, TTN2, TMEM224	Transmembrane protein 150B	TMEM150B	284417	ENSG00000180061			Tmem150b (MGI:2679718)
chr19	55339876	55348121	19q13.42	19q13.42	613198	SUV420H2	Suppressor of variegation 4-20, Drosophila, homolog of, 2	KMT5C	84787	ENSG00000133247			Kmt5c (MGI:2385262)
chr19	55349704	55354719	19q13.4	19q13.42	618127	COX6B2, CT59	Cytochrome c oxidase, subunit 6B2	COX6B2	125965	ENSG00000160471			Cox6b2 (MGI:3044182)
chr19	55354908	55363260	19q13.42	19q13.42	621103	GARIN5B	Golgi associated RAB2 interactor family, member 5B	GARIN5B	284418	ENSG00000180043			
chr19	55364382	55370463	19q13.3-q13.4	19q13.42	147681	IL11	Interleukin-11	IL11	3589	ENSG00000095752			Il11 (MGI:107613)
chr19	55385932	55403342	19q13.4	19q13.42	603638	RPL28	Ribosomal protein L28	RPL28	6158	ENSG00000108107			Rpl28 (MGI:101839)
chr19	55399745	55407788	19q13.42	19q13.42	610309	UBE2S, EPF5, E2EPF	Ubiquitin-conjugating enzyme E2 S	UBE2S	27338	ENSG00000108106			Ube2s,Ube2srt (MGI:1925141,MGI:3780467)
chr19	55428740	55443300	19q13.42	19q13.42	617328	SHISA7	Shisa family, member 7	SHISA7	729956	ENSG00000187902			Shisa7 (MGI:3605641)
chr19	55452985	55461642	19q13.42	19q13.42	612928	ISOC2	Isochorismatase domain-containing 2	ISOC2	79763	ENSG00000063241			Isoc2a,Isoc2b (MGI:1914691,MGI:3609243)
chr19	55476617	55484487	19q13.4	19q13.42	610671	ZNF628, ZEC	Zinc finger protein 628	ZNF628	89887	ENSG00000197483			Zfp628 (MGI:2665174)
chr19	55488436	55519099	19q13.4	19q13.42	618194	SSC5D	Scavenger receptor cysteine-rich family member with 5 domains	SSC5D	284297	ENSG00000179954			Ssc5d (MGI:3606211)
chr19	55528611	55537133	19q13.42	19q13.42	620414	SBK2	SH3 domain-binding kinase family, member 2	SBK2	646643	ENSG00000187550			Sbk2 (MGI:2685925)
chr19	55591376	55599517	19q13.42	19q13.42	609133	FIZ1, FLJ14768	FLT3-interacting zinc finger protein 1	FIZ1	84922	ENSG00000179943			Fiz1 (MGI:1344336)
chr19	55641002	55643470	19q13.42	19q13.42	617888	ZNF580	Zinc finger protein 580	ZNF580	51157	ENSG00000213015			Zfp580 (MGI:1916242)
chr19	55647400	55653161	19q13.42	19q13.42	613478	CCDC106	Coiled-coil domain-containing protein 106	CCDC106	29903	ENSG00000173581			Ccdc106 (MGI:2385900)
chr19	55655035	55674716	19q13.42	19q13.42	191318	U2AF2, U2AF65, DEVDFB	U2 small nuclear RNA auxiliary factor 2	U2AF2	11338	ENSG00000063244		Developmental delay, dysmorphic facies, and brain anomalies, 620535 (3), Autosomal dominant	U2af2 (MGI:98886)
chr19	55675226	55709533	19q13	19q13.42	607262	EPN1	Epsin 1	EPN1	29924	ENSG00000063245			Epn1 (MGI:1333763)
chr19	55708438	55738402	19q13.4	19q13.42	609663	NLRP9, NALP9, NOD6	NLR family pyrin-domain containing 9	NLRP9	338321	ENSG00000185792			Nlrp9a,Nlrp9b,Nlrp9c (MGI:2675292,MGI:2675377,MGI:3028627)
chr19	55757294	55763421	19q13.4	19q13.42	612601	RFPL4A, RNF210	Ret finger protein-like 4A	RFPL4A	342931	ENSG00000223638			Rfpl4 (MGI:2149590)
chr19	55785399	55836575	19q13.4	19q13.42-q13.43	609664	NLRP11, NALP11, PYPAF7, NOD17	NLR family pyrin-domain containing 11	NLRP11	204801	ENSG00000179873			
chr19	55836540	55881855	19q13.4	19q13.43	609645	NLRP4, NALP4, PAN2, PYPAF4	NLR family pyrin-domain containing 4	NLRP4	147945	ENSG00000160505			Nlrp4a,Nlrp4b,Nlrp4c,Nlrp4e,Nlrp4f (MGI:1890518,MGI:2145528,MGI:2443697,MGI:3056570,MGI:3056600)
chr19	55891692	55932336	19q13.4	19q13.43	609660	NLRP13, NALP13, NOD14	NLR family pyrin-domain containing 13	NLRP13	126204	ENSG00000173572			
chr19	55947832	55988629	19q13.4	19q13.43	609659	NLRP8, NALP8, NOD16, PAN4	NLR family pyrin-domain containing 8	NLRP8	126205	ENSG00000179709			
chr19	55999726	56061810	19q13	19q13.43	609658	NLRP5, NALP5, MATER, OZEMA19	NLR family pyrin-domain containing 5	NLRP5	126206	ENSG00000171487		Oocyte/zygote/embryo maturation arrest 19, 620333 (3), Autosomal recessive	Nlrp5 (MGI:1345193)
chr19	56132553	56160893	19q13.43	19q13.43	607874	ZNF444, EZF2	Zinc finger protein 444	ZNF444	55311	ENSG00000167685			Zfp444 (MGI:1923365)
chr19	56176008	56185775	19q13.4	19q13.43	611178	GALP, ALARIN	Galanin-like peptide (GALP precursor protein)	GALP	85569	ENSG00000197487			Galp (MGI:2663979)
chr19	56189686	56197890	19q13.43	19q13.43	620918	ZSCAN5B, ZNF495B	Zinc finger- and SCAN domain-containing protein 5B	ZSCAN5B	342933	ENSG00000197213			Zscan5b (MGI:2159640)
chr19	56221303	56368278	19q13.43	19q13.43	620916	ZSCAN5A, ZNF495	Zinc finger- and SCAN domain-containing protein 5A	ZSCAN5A	79149	ENSG00000131848			Zscan5b (MGI:2159640)
chr19	56382751	56393534	19q13.43	19q13.43	615600	ZNF582	Zinc finger protein 582	ZNF582	147948	ENSG00000018869			Zfp582 (MGI:3782026)
chr19	56439329	56478093	19q13.4	19q13.43	611024	ZNF667, MIPU1	Zinc finger protein 667	ZNF667	63934	ENSG00000198046			Zfp667 (MGI:2442757)
chr19	56507855	56530212	19q13.43	19q13.43	620162	ZNF471	Zinc finger protein 471	ZNF471	57573	ENSG00000196263			Zfp78 (MGI:107783)
chr19	56536947	56556808	19q13.4	19q13.43	616798	ZFP28	Zinc finger protein 28	ZFP28	140612	ENSG00000196867			Zfp28 (MGI:99175)
chr19	56567468	56582894	19q13.4	19q13.43	620441	ZNF470	Zinc finger protein 470	ZNF470	388566	ENSG00000197016			
chr19	56595302	56624486	19q13.4	19q13.43	194545	ZNF71	Zinc finger protein-71 (Cos26)	ZNF71	58491	ENSG00000197951	previously assigned to 22q11.2		
chr19	56810082	56840726	19q13.4	19q13.43	601483	PEG3	Paternally expressed gene 3	PEG3	5178	ENSG00000198300			Peg3 (MGI:104748)
chr19	56840902	56848556	19q13.43	19q13.43	620407	MIMT1, LINC00067	MER1 repeat-containing imprinted transcript 1, noncoding	MIMT1	100073347	ENSG00000268654			
chr19	57119087	57131926	19q13.43	19q13.43	609546	USP29	Ubiquitin-specific protease 29	USP29	57663	ENSG00000131864			Usp29 (MGI:1888998)
chr19	57154021	57167485	19q13.43	19q13.43	611168	DUXA	Double homeobox A	DUXA	503835	ENSG00000258873	many pseudogenes		
chr19	57191500	57222846	19q13.4	19q13.43	604668	ZNF264	Zinc finger protein-264	ZNF264	9422	ENSG00000083844			
chr19	57231023	57235548	19q13.43	19q13.43	603495	AURKC, STK13, AIE2, SPGF5	Aurora kinase C	AURKC	6795	ENSG00000105146		Spermatogenic failure 5, 243060 (3), Autosomal recessive	Aurkc (MGI:1321119)
chr19	57279982	57294069	19q13.4	19q13.43	604755	ZNF272, HZF8, ZNF460	Zinc finger protein-272	ZNF460	10794	ENSG00000197714			
chr19	57320472	57330770	19q13.43	19q13.43	616847	ZNF543	Zinc finger protein 543	ZNF543	125919	ENSG00000178229			
chr19	57351271	57359898	19q13.43	19q13.43	613840	ZNF304	Zinc finger protein 304	ZNF304	57343	ENSG00000131845			
chr19	57363551	57365405	19q13.43	19q13.43	620472	TRAPPC2B, MIP2A	Trafficking protein particle complex, subunit 2B	TRAPPC2B	10597	ENSG00000256060			Trappc2b (MGI:1913300)
chr19	57411161	57421934	19q13.43	19q13.43	619254	ZNF17, KOX10, KIAA1947	Zinc finger protein 17	ZNF17	7565	ENSG00000186272			Gm14391,Gm15446,Gm6710,Zfp932 (MGI:1916754,MGI:3709324,MGI:3709333,MGI:3779623)
chr19	57454790	57457140	19q13.4	19q13.43	605234	VN1R1, V1RL1	Vomeronasal 1 receptor 1	VN1R1	57191	ENSG00000178201			
chr19	57487750	57496098	19q13.43	19q13.43	617410	ZNF419	Zinc finger protein 419	ZNF419	79744	ENSG00000105136			
chr19	57527356	57540876	19q13.43	19q13.43	620720	ZNF549	Zinc finger protein 549	ZNF549	256051	ENSG00000121406			
chr19	57614242	57624724	19q13.4	19q13.43	604076	ZNF134	Zinc finger protein-134	ZNF134	7693	ENSG00000213762			
chr19	57633168	57644041	19q13.4	19q13.43	601856	ZNFC25	Zinc finger protein-C2H2-25	ZNF211	10520	ENSG00000121417			
chr19	57651476	57679152	19q13.43	19q13.43	613419	ZSCAN4, ZNF494	Zinc finger- and SCAN domain-containing protein 4	ZSCAN4	201516	ENSG00000180532			Zscan4-ps1,Zscan4-ps2,Zscan4-ps3,Zscan4b,Zscan4c,Zscan4d,Zscan4e,Zscan4f (MGI:2685243,MGI:3643613,MGI:3645447,MGI:3645953,MGI:3645954,MGI:3708485,MGI:3708487,MGI:3708489)
chr19	57696275	57709204	19q13.4	19q13.43	604085	ZNF154	Zinc finger protein-154	ZNF154	7710	ENSG00000179909			
chr19	57921882	57935402	19q13.43	19q13.43	619509	ZNF418, ZFP418	Zinc finger protein 418	ZNF418	147686	ENSG00000196724			
chr19	57940833	57947706	19q13	19q13.43	606956	ZNF256	Zinc finger protein 256	ZNF256	10172	ENSG00000152454			
chr19	57977053	58003346	19q13.4	19q13.43	613905	ZNF606, ZNF328, KIAA1852	Zinc finger protein 606	ZNF606	80095	ENSG00000166704			Zfp606 (MGI:1914620)
chr19	58034025	58056502	19q13.4	19q13.43	620026	ZSCAN1	Zinc finger- and SCAN domain-containing protein 1	ZSCAN1	284312	ENSG00000152467			
chr19	58059239	58069755	19q13.4	19q13.43	604077	ZNF135	Zinc finger protein-135	ZNF135	7694	ENSG00000176293			
chr19	58183061	58213562	19q13.4	19q13.43	605467	ZNF274	Zinc finger protein-274	ZNF274	10782	ENSG00000171606			Zfp110,Zfp369 (MGI:1890378,MGI:2176229)
chr19	58278955	58302791	19q13.43	19q13.43	194532	ZNF8	Zinc finger protein-8	ZNF8	7554	ENSG00000278129	previously assigned to 20q13		Zfp128 (MGI:2389445)
chr19	58326994	58342332	19q13.43	19q13.43	165260	ZSCAN22, HKR2	Zinc finger- and SCAN domain-containing protein 22	ZSCAN22	342945	ENSG00000182318			Zscan22 (MGI:2443312)
chr19	58345183	58353492	19cen-q13.2	19q13.43	138670	A1BG	Glycoprotein, alpha-1B	A1BG	1	ENSG00000121410	order:  C3-SE-LU-A1BG		A1bg (MGI:2152878)
chr19	58387269	58394804	19q13.4	19q13.43	603630	RPS5	Ribosomal protein S5	RPS5	6193	ENSG00000083845			Rps5 (MGI:1097682)
chr19	58432814	58440153	19q13.4	19q13.43	604074	ZNF132	Zinc finger protein-132	ZNF132	7691	ENSG00000131849			
chr19	58467080	58475436	19q13.43	19q13.43	617477	ZNF324, ZF5128	Zinc finger protein 324	ZNF324	25799	ENSG00000083812			Zfp324 (MGI:2444641)
chr19	58498333	58511992	19q13.43	19q13.43	603314	SLC27A5, FATP5, VLACSR, VLCSH2	Solute carrier family 27 (fatty acid transporter), member 5	SLC27A5	10998	ENSG00000083807			Slc27a5 (MGI:1347100)
chr19	58544064	58550715	19q13.4	19q13.43	601742	TRIM28, KAP1, TIF1B	Tripartite motif-containing protein 28	TRIM28	10155	ENSG00000130726			Trim28 (MGI:109274)
chr19	58551566	58555105	19q	19q13.43	610893	CHMP2A, VPS2A, VPS2, BC2	Charged multivesicular body protein 2A	CHMP2A	27243	ENSG00000130724			Chmp2a (MGI:1916203)
chr19	58555712	58558611	19q13.43	19q13.43	603173	UBE2M, UBC12	Ubiquitin-conjugating enzyme E2 M	UBE2M	9040	ENSG00000130725			Ube2m (MGI:108278)
chr19	58561932	58573573	19q13.43	19q13.43	194550	MZF1, ZNF42	Myeloid zinc finger 1	MZF1	7593	ENSG00000099326			Mzf1 (MGI:107457)
chr19	1	58617616	Chr.19		603979	ZNF97	Zinc finger protein-97						
chr20	1	28100001	20p		607116	AD8	Alzheimer disease 8		353128		?related to CST3	Alzheimer disease 8, 607116 (2)	
chr20	1	5100000	20p13		608031	ALS7	Amyotrophic lateral sclerosis 7		406238		max lod at D20S103	Amyotrophic lateral sclerosis 7, 608031 (2)	
chr20	1	28100001	20p		605804	ATOD3	Dermatitis, atopic, 3		117187		max lod at D20S115	{Dermatitis, atopic, susceptibility to, 3}, 605804 (2)	
chr20	1	25700000	20pter-p11.2		608559	BMIQ6	Body mass index quantitative trait locus 6		449017		near D20S482 and D20S851	[Body mass index QTL6], 608559 (2)	
chr20	1	5100000	20p13		611242	RLS5	Restless legs syndrome, susceptibility to, 5		100188839		max lod at D20S849	{Restless legs syndrome 5}, 611242 (2)	
chr20	142590	145751	20p13	20p13	620131	DEFB126	Defensin, beta, 126	DEFB126	81623	ENSG00000125788			Defb22 (MGI:3045368)
chr20	297570	300321	20p13	20p13	618326	ZCCHC3	Zinc finger CCHC domain-containing protein 3	ZCCHC3	85364	ENSG00000247315			Zcchc3 (MGI:1915167)
chr20	325552	330224	20p13	20p13	601947	SOX12, SOX22	SRY (sex-determining region Y)-box 12	SOX12	6666	ENSG00000177732			Sox12 (MGI:98360)
chr20	347111	354862	20p13	20p13	610666	NRSN2	Neurensin 2	NRSN2	80023	ENSG00000125841			Nrsn2 (MGI:2684969)
chr20	380760	397559	20p13	20p13	607898	TRIB3, NIPK, SINK, C20orf97, SKIP3	Tribbles pseudokinase 3	TRIB3	57761	ENSG00000101255			Trib3 (MGI:1345675)
chr20	408299	432139	20p13	20p13	610924	RBCK1, HOIL1, PGBM1, PBMEI, C20orf18	RANBP-type and C3HC4-type zinc finger-containing 1	RBCK1	10616	ENSG00000125826		Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3), Autosomal recessive	Rbck1 (MGI:1344372)
chr20	435480	462533	20p13	20p13	611663	TBC1D20, C20orf140, WARBM4	TBC1 domain family, member 20	TBC1D20	128637	ENSG00000125875		Warburg micro syndrome 4, 615663 (3), Autosomal recessive	Tbc1d20 (MGI:1914481)
chr20	472498	543790	20p13	20p13	115440	CSNK2A1, CK2A1, OCNDS	Casein kinase-2, alpha-1 polypeptide	CSNK2A1	1457	ENSG00000101266	pseudogene on 11p15	Okur-Chung neurodevelopmental syndrome, 617062 (3), Autosomal dominant	Csnk2a1 (MGI:88543)
chr20	604257	610309	20p13	20p13	601010	TCF15	Transcription factor-15 (basic helix-loop-helix)	TCF15	6939	ENSG00000125878			Tcf15 (MGI:104664)
chr20	646615	653200	20p13	20p13	617583	SRXN1, SRX	Sulfiredoxin 1	SRXN1	140809	ENSG00000271303			Srxn1 (MGI:104971)
chr20	760080	780033	20p13	20p13	613350	SLC52A3, C20orf54, RFT2, BVVLS1	Solute carrier family 52, riboflavin transporter, member 3	SLC52A3	113278	ENSG00000101276	mutation identified in 1 FZLD family	?Fazio-Londe disease, 211500 (3), Autosomal recessive; Brown-Vialetto-Van Laere syndrome 1, 211530 (3), Autosomal recessive	Slc52a3 (MGI:1916948)
chr20	833715	846277	20p13	20p13	611393	FAM110A, C20orf55	Family with sequence similarity 110, member A	FAM110A	83541	ENSG00000125898			Fam110a (MGI:1921097)
chr20	869900	916334	20p13	20p13	603705	ANGPT4, ANG4	Angiopoietin 4	ANGPT4	51378	ENSG00000101280	no ANGT3 in human		Angpt4 (MGI:1336887)
chr20	958452	1002311	20p13	20p13	610573	RSPO4, CRISTIN4	R-spondin member 4	RSPO4	343637	ENSG00000101282		Anonychia congenita, 206800 (3), Autosomal recessive	Rspo4 (MGI:1924467)
chr20	1113263	1172246	20p13	20p13	617858	PSMF1, PI31	Proteasome inhibitor subunit 1	PSMF1	9491	ENSG00000125818			Psmf1 (MGI:1346072)
chr20	1226044	1255876	20p13	20p13	619533	RAD21L1, RAD21L	RAD21 cohesin complex component-like 1	RAD21L1	642636	ENSG00000244588			Rad21l (MGI:3652039)
chr20	1266294	1309327	20p13	20p13	604942	SNPH	Syntaphilin	SNPH	9751	ENSG00000101298			Snph (MGI:2139270)
chr20	1309909	1329139	20p13	20p13	617358	SDCBP2, SITAC, ST2, SITAC18	Syndecan-binding protein 2	SDCBP2	27111	ENSG00000125775			Sdcbp2 (MGI:2385156)
chr20	1368978	1393054	20p13	20p13	186945	FKBP1A, FKBP12	FK506-binding protein-1A, 12kD	FKBP1A	2280	ENSG00000088832			Fkbp1a (MGI:95541)
chr20	1442166	1466849	20p	20p13	606610	P47	p47, rat, homolog of	NSFL1C	55968	ENSG00000088833			Nsfl1c (MGI:3042273)
chr20	1561385	1620009	20p13	20p13	603889	SIRPB1	Signal regulatory protein, beta-1	SIRPB1	10326	ENSG00000101307			Sirpb1a,Sirpb1b,Sirpb1c (MGI:2444824,MGI:3779828,MGI:3807521)
chr20	1629152	1686455	20p13	20p13	605466	SIRPG, SIRPB2	Signal regulatory protein, gamma	SIRPG	55423	ENSG00000089012			Sirpb1a,Sirpb1b,Sirpb1c (MGI:2444824,MGI:3779828,MGI:3807521)
chr20	1894167	1940592	20p13	20p13	602461	SHPS1	SHP substrate-1	SIRPA	140885	ENSG00000198053			Sirpa (MGI:108563)
chr20	1978756	1994285	20p13	20p13	131340	PDYN, SCA23	Prodynorphin	PDYN	5173	ENSG00000101327		Spinocerebellar ataxia 23, 610245 (3), Autosomal dominant	Pdyn (MGI:97535)
chr20	2101827	2148555	20p13	20p13	609370	STK35, CLIK1	Serine/threonine kinase 35	STK35	140901	ENSG00000125834			Stk35 (MGI:1914583)
chr20	2296001	2341079	20q12	20p13	600238	TGM3, UHS2	Transglutaminase-3 (E polypeptide, protein-glutamine-gamma-glutamyl transferase)	TGM3	7053	ENSG00000125780	mutation identified in 1 UHS2 patient	?Uncombable hair syndrome 2, 617251 (3), Autosomal recessive	Tgm3 (MGI:98732)
chr20	2380901	2432753	20p13-p12.2	20p13	613900	TGM6, TG6, TGY, SCA35	Transglutaminase 6	TGM6	343641	ENSG00000166948		Spinocerebellar ataxia 35, 613908 (3), Autosomal dominant	Tgm6 (MGI:3044321)
chr20	2461642	2470789	20p13	20p13	182282	SNRPB, CCMS	Small nuclear ribonucleoprotein polypeptides B and B1	SNRPB	6628	ENSG00000125835		Cerebrocostomandibular syndrome, 117650 (3), Autosomal dominant	Snrpb (MGI:98342)
chr20	2536573	2643580	20p13	20p13	606707	TMC2	Transmembrane channel-like protein 2	TMC2	117532	ENSG00000149488			Tmc2 (MGI:2151017)
chr20	2652632	2658393	20p13	20p13	614154	NOP56, SCA36	Nop56, S. cerevisiae, homolog of	NOP56	10528	ENSG00000101361		Spinocerebellar ataxia 36, 614153 (3), Autosomal dominant	Nop56 (MGI:1914384)
chr20	2652777	2652842	20p13	20p13	614155	MIR1292, MIRN1292	Micro RNA 1292	MIR1292	100302138	ENSG00000284481			
chr20	2658395	2664216	20p13	20p13	604526	IDH3B, RP46	Isocitrate dehydrogenase (NAD+) 3, noncatalytic, beta subunit	IDH3B	3420	ENSG00000101365		Retinitis pigmentosa 46, 612572 (3), Autosomal recessive	Idh3b (MGI:2158650)
chr20	2692780	2760108	20p13	20p13	609935	EBF4, KIAA1442	Early B-cell factor 4	EBF4	57593	ENSG00000088881			Ebf4 (MGI:2385972)
chr20	2794074	2800627	20p13	20p13	609555	CPXM1, CPX1	Carboxypeptidase X, M14 family, member 1	CPXM1	56265	ENSG00000088882			Cpxm1 (MGI:1934569)
chr20	2840745	2866732	20p13	20p13	608550	VPS16, DYT30	VPS16 core subunit of CORVET and HOPS complexes	VPS16	64601	ENSG00000215305		Dystonia 30, 619291 (3), Autosomal dominant	Vps16 (MGI:2136772)
chr20	2864184	3038669	20p13	20p13	176884	PTPRA, PTPA, PTPRL2, LRP	Protein tyrosine phosphatase, receptor type, alpha polypeptide	PTPRA	5786	ENSG00000132670			Ptpra (MGI:97808)
chr20	3043622	3045747	20p13	20p13	602352	GNRH2	Gonadotropin-releasing hormone-2	GNRH2	2797	ENSG00000125787			
chr20	3046052	3048250	20p13	20p13	611988	MRPS26, MRPS13	Mitochondrial ribosomal protein S26	MRPS26	64949	ENSG00000125901			Mrps26 (MGI:1333830)
chr20	3071620	3072517	20p13	20p13	167050	OXT	Oxytocin-neurophysin I	OXT	5020	ENSG00000101405	12kb from ARVP		Oxt (MGI:97453)
chr20	3082556	3084724	20p13	20p13	192340	AVP, AVRP, VP	Arginine vasopressin (neurophysin II, antidiuretic hormone)	AVP	551	ENSG00000101200	distal 20p	Diabetes insipidus, neurohypophyseal, 125700 (3), Autosomal dominant	Avp (MGI:88121)
chr20	3107573	3159865	20p13	20p13	619675	UBOX5, RNF37, UIP5	U-box domain-containing protein 5	UBOX5	22888	ENSG00000185019			Ubox5 (MGI:2154658)
chr20	3146519	3159865	20p13	20p13	614272	FASTKD5	Fast kinase domain-containing protein 5	FASTKD5	60493	ENSG00000215251			Fastkd5 (MGI:2139469)
chr20	3162617	3173549	20p13	20p13	610484	PROSAPIP1, KIAA0552	Proline-rich synapse-associated protein-interacting protein 1	LZTS3	9762	ENSG00000088899			Lzts3 (MGI:2656976)
chr20	3190350	3204682	20p13	20p13	616177	DDRGK1, UFBP1, C20orf116, SEMDSH	DDRGK domain-containing protein 1	DDRGK1	65992	ENSG00000198171		Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3), Autosomal recessive	Ddrgk1 (MGI:1924256)
chr20	3204065	3227449	20p	20p13	147520	ITPA, DEE35	Inosine triphosphatase-A	ITPA	3704	ENSG00000125877		[Inosine triphosphatase deficiency], 613850 (3); Developmental and epileptic encephalopathy 35, 616647 (3), Autosomal recessive	Itpa (MGI:96622)
chr20	3227417	3239559	20p13-p12	20p13	610206	SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4	Solute carrier family 4 (sodium borate cotransporter), member 11	SLC4A11	83959	ENSG00000088836		Corneal endothelial dystrophy, autosomal recessive, 217700 (3), Autosomal recessive; Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3), Autosomal recessive	Slc4a11 (MGI:2138987)
chr20	3249306	3407669	20p13	20p13	614146	DNAAF9, C20orf194	Dynein, axonemal, assembly factor 9	DNAAF9	25943	ENSG00000088854			Dnaaf9 (MGI:1923029)
chr20	3471018	3651118	20p13	20p13	603130	ATRN, MGCA	Attractin (mahogany, mouse, homolog of)	ATRN	8455	ENSG00000088812			Atrn (MGI:1341628)
chr20	3659248	3663399	20p13	20p13	618679	GFRA4	GDNF family receptor alpha-4	GFRA4	64096	ENSG00000125861			Gfra4 (MGI:1341873)
chr20	3667975	3682010	20p13	20p13	607114	ADAM33	ADAM metallopeptidase domain 33	ADAM33	80332	ENSG00000149451			Adam33 (MGI:1341813)
chr20	3686970	3712600	20p13	20p13	600751	SIGLEC1, SN, CD169	Sialic acid-binding immunoglobulin-like lectin 1 (sialoadhesin)	SIGLEC1	6614	ENSG00000088827			Siglec1,Siglecl2 (MGI:1921304,MGI:99668)
chr20	3732685	3753111	20p13	20p13	610702	HSPA12B	Heat-shock 70kD protein 12B	HSPA12B	116835	ENSG00000132622			Hspa12b (MGI:1919880)
chr20	3753508	3768388	20p13	20p13	620373	ADISSP, C20orf27	Adipose-secreted signaling protein	ADISSP	54976	ENSG00000101220			Adissp (MGI:1914576)
chr20	3777504	3781448	20p13	20p13	610674	C20orf28, CLAMP, SPEF1	Sperm flagellar protein 1	SPEF1	25876	ENSG00000101222			Spef1 (MGI:3513546)
chr20	3783851	3786740	20p13	20p13	117140	CENPB	Centromeric protein B	CENPB	1059	ENSG00000125817			Cenpb (MGI:88376)
chr20	3786951	3806115	20p13	20p13	116949	CDC25B	Cell division cycle 25B	CDC25B	994	ENSG00000101224			Cdc25b (MGI:99701)
chr20	3820547	3828838	20p13	20p13	614824	AP5S1, C20orf29	Adaptor-related protein complex 5, sigma-1 subunit	AP5S1	55317	ENSG00000125843			Ap5s1 (MGI:1916846)
chr20	3846834	3876118	20p13	20p13	609676	MAVS, VISA, IPS1, CARDIF, KIAA1271	Mitochondrial antiviral signaling protein	MAVS	57506	ENSG00000088888			Mavs (MGI:2444773)
chr20	3888781	3929887	20p13-p12.3	20p13	606157	PANK2, NBIA1, PKAN	Pantothenate kinase 2	PANK2	80025	ENSG00000125779		Neurodegeneration with brain iron accumulation 1, 234200 (3), Autosomal recessive	Pank2 (MGI:1921700)
chr20	3917494	3917571	20p13	20p13	613188	MIR103-2, MIRN103-2	Micro RNA 103-2	MIR103A2	406896	ENSG00000199024			Mir103-2 (MGI:3619059)
chr20	3927311	4015558	20p13-p12.1	20p13	612489	RNF24, G1L	RING finger protein 24	RNF24	11237	ENSG00000101236			Rnf24 (MGI:1261771)
chr20	4148828	4187727	20p13	20p13	615854	SMOX, SMO, PAO1, C20orf16, PAOH	Spermine oxidase	SMOX	54498	ENSG00000088826			Smox (MGI:2445356)
chr20	4220630	4249287	20p13	20p13	104219	ADRA1D, ADRA1A	Adrenergic, alpha-1D-, receptor	ADRA1D	146	ENSG00000171873	incorrectly assigned to 5q		Adra1d (MGI:106673)
chr20	4686456	4701588	20pter-p12	20p13	176640	PRNP, PRIP, KURU, CJD	Prion protein	PRNP	5621	ENSG00000171867	pter-PRNP-SCG1-BMP2A-PAX1-cen	Spongiform encephalopathy with neuropsychiatric features, 606688 (3), Autosomal dominant; Gerstmann-Straussler disease, 137440 (3), Autosomal dominant; Huntington disease-like 1, 603218 (3), Autosomal dominant; Insomnia, fatal familial, 600072 (3), Autosomal dominant; {Kuru, susceptibility to}, 245300 (3); Cerebral amyloid angiopathy, PRNP-related, 137440 (3), Autosomal dominant; Creutzfeldt-Jakob disease, 123400 (3), Autosomal dominant	Prnp (MGI:97769)
chr20	4721909	4728460	20pter-p12	20p13	604263	PRND, DPL	Prion-like protein doppel	PRND	23627	ENSG00000171864			Prn,Prnd (MGI:1346999,MGI:97767)
chr20	4780023	4823608	20p13	20p13	609492	RASSF2, KIAA0168	Ras association domain family protein 2	RASSF2	9770	ENSG00000101265			Rassf2 (MGI:2442060)
chr20	4852358	5010313	20p13-p12	20p13	603791	SLC23A2, SVCT2	Solute carrier family 23 (nucleobase transporters), member 2 (sodium-dependent vitamin C transporter 2)	SLC23A2	9962	ENSG00000089057			Slc23a2 (MGI:1859682)
chr20	5059116	5113076	20p13	20p13-p12.3	617019	TMEM230, C20orf30	Transmembrane protein 230	TMEM230	29058	ENSG00000089063			Tmem230 (MGI:1917862)
chr20	5100001	9200000	20p12.3		611738	BMND7	Bone mineral density QTL 7		100188853		most significant association with haplotype C	{Osteoporosis}, 166710 (2), Autosomal dominant	
chr20	5100001	9200000	20p12.3		612592	CRCS11	Colorectal cancer, susceptibility to, 11		100271692		associated with rs961253	{Colorectal cancer, susceptibility to, 11}, 612592 (2)	
chr20	5100001	17900000	20p12		608696	GLC1K, JOAG3	Glaucoma 1K, primary open angle, juvenile-onset		574077		between D20S189 and D20S104	Glaucoma 1K, primary open angle, juvenile-onset, 608696 (2)	
chr20	5100001	17900000	20p12		610065	SLEB7	Systemic lupus erythematosus, susceptibility to, 7		100188803			{Systemic lupus erythematosus, susceptibility to, 7}, 610065 (2)	
chr20	5114953	5126622	20p12	20p12.3	176740	PCNA, ATLD2	Proliferating cell nuclear antigen	PCNA	5111	ENSG00000132646	pseudogenes on X and 6; mutation identified in one ATLD2 family	?Ataxia-telangiectasia-like disorder 2, 615919 (3), Autosomal recessive	Pcna (MGI:97503)
chr20	5127008	5197887	20p13	20p12.3	603549	CDS2	CDP-diacylglycerol synthase 2	CDS2	8760	ENSG00000101290			Cds2 (MGI:1332236)
chr20	5299218	5316954	20p13	20p12.3	607123	PROKR2, PKR2, GPR73L1, HH3	Prokineticin receptor 2	PROKR2	128674	ENSG00000101292		Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3), Autosomal dominant	Prokr2 (MGI:2181363)
chr20	5544439	5611006	20p12.3	20p12.3	614124	GPCPD1, GDE5, KIAA1434	Glycerophosphocholine phosphodiesterase 1	GPCPD1	56261	ENSG00000125772			Gpcpd1 (MGI:104898)
chr20	5750193	5864395	20p12.3	20p12.3	618028	SHLD1, RINN3, C20orf196	Shield complex, subunit 1	SHLD1	149840	ENSG00000171984			Shld1 (MGI:1920997)
chr20	5911510	5925353	20pter-p12	20p12.3	118920	CHGB, SCG1	Chromogranin B (secretogranin B)	CHGB	1114	ENSG00000089199			Chgb (MGI:88395)
chr20	5937228	5950533	20p12.3	20p12.3	620886	TRMT6,, TRM6	tRNA methyltransferase 6, noncatalytic subunit	TRMT6	51605	ENSG00000089195			Trmt6 (MGI:1914176)
chr20	5950652	5998977	20p13-p12.3	20p12.3	608187	MCM8, POF10	Minichromosome maintenance complement component 8	MCM8	84515	ENSG00000125885	mutation identified in 1 POF10 family	?Premature ovarian failure 10, 612885 (3), Autosomal recessive	Mcm8 (MGI:1913884)
chr20	6005938	6040053	20p13-p12.3	20p12.3	608188	CRLS1, GCD10, C20orf155, COSPD57	Cardiolipin synthase 1	CRLS1	54675	ENSG00000088766		Combined oxidative phosphorylation deficiency 57, 620167 (3), Autosomal recessive	Crls1 (MGI:1913836)
chr20	6040546	6054060	20p12.3	20p12.3	619706	LRRN4	Leucine-rich repeat neuronal protein 4	LRRN4	164312	ENSG00000125872			Lrrn4 (MGI:2445154)
chr20	6074845	6123030	20p13	20p12.3	607900	FERMT1, KIND1, URP1, C20orf42	FERM domain-containing kindlin 1	FERMT1	55612	ENSG00000101311		Kindler syndrome, 173650 (3), Autosomal recessive	Fermt1 (MGI:2443583)
chr20	6767686	6780246	20p12	20p12.3	112261	BMP2, BMP2A, BDA2, SSFSC1	Bone morphogenetic protein-2	BMP2	650	ENSG00000125845		Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, 617877 (3), Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant; {HFE hemochromatosis, modifier of}, 235200 (3), Autosomal recessive	Bmp2 (MGI:88177)
chr20	7882985	7940458	20p12	20p12.3	605023	HAO1, GOX1	Hydroxyacid oxidase 1	HAO1	54363	ENSG00000101323			Hao1 (MGI:96011)
chr20	7977346	8019761	20p12.3	20p12.3	616766	TMX4	Thioredoxin-related transmembrane protein 4	TMX4	56255	ENSG00000125827			Tmx4 (MGI:106558)
chr20	8132266	8884900	20p12	20p12.3	607120	PLCB1, KIAA0581, PLCB1A, PLCB1B, DEE12	Phospholipase C, beta-1	PLCB1	23236	ENSG00000182621		Developmental and epileptic encephalopathy 12, 613722 (3), Autosomal recessive	Plcb1 (MGI:97613)
chr20	9068678	9480808	20p12	20p12.3-p12.2	600810	PLCB4, ARCND2A, ARCND2B	Phospholipase C, beta 4	PLCB4	5332	ENSG00000101333		Auriculocondylar syndrome 2B, 620458 (3), Autosomal recessive; Auriculocondylar syndrome 2A, 614669 (3), Autosomal dominant	Plcb4 (MGI:107464)
chr20	9514590	9530524	20p12.2	20p12.2	614641	LAMP5, BADLAMP	Lysosome-associated membrane protein 5	LAMP5	24141	ENSG00000125869			Lamp5 (MGI:1923411)
chr20	9537370	9839076	20p12.2	20p12.2	608038	PAK5, PAK7, KIAA1264	p21 (RAC1) activated kinase	PAK5	57144	ENSG00000101349			Pak5 (MGI:1920334)
chr20	10218830	10307418	20p11.2	20p12.2	600322	SNAP25, CMS18	Synaptosomal-associated protein, 25kD	SNAP25	6616	ENSG00000132639	mutation identified in 1 CMS18 patient	?Myasthenic syndrome, congenital, 18, 616330 (3), Autosomal dominant	Snap25 (MGI:98331)
chr20	10401009	10434222	20p12	20p12.2	604896	MKKS, HMCS, KMS, MKS, BBS6	McKusick-Kaufman syndrome gene	MKKS	8195	ENSG00000125863		McKusick-Kaufman syndrome, 236700 (3), Autosomal recessive; Bardet-Biedl syndrome 6, 605231 (3), Autosomal recessive	Mkks (MGI:1891836)
chr20	10435305	10628030	20p12.2	20p12.2	615958	SLX4IP, C20orf94	SLX4-interacting protein	SLX4IP	128710	ENSG00000149346			Slx4ip (MGI:1921493)
chr20	10637684	10673999	20p12	20p12.2	601920	JAG1, AGS1, AHD, DCHE, CMT2HH	Jagged 1	JAG1	182	ENSG00000101384	mutation identified in 1 DCHE family	?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2HH, 619574 (3), Autosomal dominant; Alagille syndrome 1, 118450 (3), Autosomal dominant; Tetralogy of Fallot, 187500 (3), Autosomal dominant	Jag1 (MGI:1095416)
chr20	11890817	11926595	20p12.2	20p12.2	615566	BTBD3, KIAA0952	BTB/POZ domain-containing protein 3	BTBD3	22903	ENSG00000132640			Btbd3 (MGI:2385155)
chr20	13008972	13169103	20p12.3-p12.1	20p12.1	611120	SPTLC3, SPTLC2L	Serine palmitoyltransferase, long-chain base subunit 3	SPTLC3	55304	ENSG00000172296			Sptlc3 (MGI:2444678)
chr20	13104772	13638932	20p12.1	20p12.1	608270	TASP1, C20orf13, SULEHS	Threonine aspartase 1	TASP1	55617	ENSG00000089123		Suleiman-El-Hattab syndrome, 618950 (3), Autosomal recessive	Tasp1 (MGI:1923062)
chr20	13221274	13326723	20p12.1	20p12.1	615793	ISM1, ISM	Isthmin 1, angiogenesis inhibitor	ISM1	140862	ENSG00000101230			Ism1 (MGI:2442963)
chr20	13714325	13784919	20p12.1	20p12.1	618765	ESF1, ABTAP	ESF1 nucleolar pre-rRNA-processing protein	ESF1	51575	ENSG00000089048			Esf1 (MGI:1913830)
chr20	13785028	13821580	20p12.1	20p12.1	612360	NDUFAF5, C20orf7, MC1DN16	NADH-ubiquinone oxidoreductase complex assembly factor 5	NDUFAF5	79133	ENSG00000101247		Mitochondrial complex I deficiency, nuclear type 16, 618238 (3), Autosomal recessive	Ndufaf5 (MGI:1916737)
chr20	13849247	13995333	20p12.1	20p12.1	614289	SEL1L2	SEL1L2 adaptor subunit of ERAD E3 ligase	SEL1L2	80343	ENSG00000101251			Sel1l2 (MGI:2684964)
chr20	13995516	16053197	20p12	20p12.1	611567	MACROD2, C2orf133	Macro domain-containing 2	MACROD2	140733	ENSG00000172264			Macrod2 (MGI:1920149)
chr20	14322985	14337612	20p11	20p12.1	604808	FLRT3, HH21	Fibronectin-like domain-containing leucine-rich transmembrane protein-3	FLRT3	23767	ENSG00000125848		Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3), Autosomal dominant	Flrt3 (MGI:1918686)
chr20	16272104	16573448	20p12.1	20p12.1	618171	KIF16B	Kinesin family member 16B	KIF16B	55614	ENSG00000089177			Kif16b (MGI:1098240)
chr20	16730026	16742564	20p12.1	20p12.1	603520	SNRPB2	Small nuclear ribonucleoprotein polypeptide B-double prime	SNRPB2	6629	ENSG00000125870			Snrpb2 (MGI:104805)
chr20	16748358	16752164	20p11	20p12.1	606067	OTOR	Otoraplin	OTOR	56914	ENSG00000125879			Otor (MGI:1888678)
chr20	17226107	17484578	20p11.2	20p12.1	162151	PCSK2, NEC2, PC2	Proprotein convertase subtilisin/kexin type 2	PCSK2	5126	ENSG00000125851			Pcsk2 (MGI:97512)
chr20	17493905	17569220	20p12.1-p11.23	20p12.1	603307	BFSP1, CP115, CTRCT33	Beaded filament structural protein-1 (filensin)	BFSP1	631	ENSG00000125864		Cataract 33, multiple types, 611391 (3), Autosomal recessive, Autosomal dominant	Bfsp1 (MGI:101770)
chr20	17570075	17609919	20p12.1	20p12.1	609114	DSTN, ADF	Destrin	DSTN	11034	ENSG00000125868			Dstn (MGI:1929270)
chr20	17613679	17682242	20p12-p11.2	20p12.1	601418	RRBP1, ES130	Ribosome binding protein-1	RRBP1	6238	ENSG00000125844			Rrbp1 (MGI:1932395)
chr20	17900001	47800000	20p11.2-q13.12		612406	DYT17	Dystonia-17, primary torsion		100216344		between D20S472 and D20S911	Dystonia-17, primary torsion, 612406 (2), Autosomal recessive	
chr20	17941600	17968794	20p11	20p11.23	605937	SNX5	Sorting nexin 5	SNX5	27131	ENSG00000089006			Snx5 (MGI:1916428)
chr20	17968590	17991122	20p11.23	20p11.23	615076	MGME1, C20orf72, MTDPS11	Mitochondrial genome maintenance exonuclease 1	MGME1	92667	ENSG00000125871		Mitochondrial DNA depletion syndrome 11, 615084 (3), Autosomal recessive	Mgme1 (MGI:1921778)
chr20	18024152	18059188	20p11.23	20p11.23	616441	OVOL2, ZNF339, PPCD1	ovo-like 2	OVOL2	58495	ENSG00000125850		Corneal dystrophy, posterior polymorphous, 1, 122000 (3), Autosomal dominant	Ovol2 (MGI:1338039)
chr20	18137153	18188035	20p11.23	20p11.23	617501	KAT14, CRP2BP, CSRP2BP, ATAC2	Lysine acetyltransferase 14	KAT14	57325	ENSG00000149474			Kat14 (MGI:1917264)
chr20	18137863	18143169	20p11.23	20p11.23	614771	PET117, MC4DN19	PET117 cytochrome c oxidase chaperone	PET117	100303755	ENSG00000232838	mutation identified in 1 MC4DN19 family	?Mitochondrial complex IV deficiency, nuclear type 19, 619063 (3), Autosomal recessive	Pet117 (MGI:5295678)
chr20	18288527	18316996	20p11.2	20p11.23	604075	ZNF133	Zinc finger protein-133	ZNF133	7692	ENSG00000125846			
chr20	18383367	18467030	20p11.23	20p11.23	620905	DZANK1	Double zinc ribbon and ankyrin repeat domains 1	DZANK1	55184	ENSG00000089091			Dzank1 (MGI:2139080)
chr20	18467390	18484646	20p11.23	20p11.23	617455	POLR3F, RPC39, RPC6, IMD101	Polymerase III, RNA, subunit F	POLR3F	10621	ENSG00000132664	mutation identified in 1 IMD101 family	?Immunodeficiency 101 (varicella zoster virus-specific), 619872 (3), Autosomal dominant	Polr3f (MGI:1924086)
chr20	18486540	18497225	20p11.2	20p11.23	602908	RBBP9, BOG	Retinoma-binding protein 9	RBBP9	10741	ENSG00000089050			Rbbp9 (MGI:1347074)
chr20	18507548	18561415	20p11.2	20p11.23	610512	SEC23B, CDAN2, HEMPAS, CWS7	SEC23 homolog B, coat complex II component	SEC23B	10483	ENSG00000101310	mutation identified in 1 CWS7 family	?Cowden syndrome 7, 616858 (3), Autosomal dominant; Dyserythropoietic anemia, congenital, type II, 224100 (3), Autosomal recessive	Sec23b (MGI:1350925)
chr20	18588054	18766644	20p11	20p11.23	610996	DTD1, C20orf88	D-aminoacyl-tRNA deacylase 1	DTD1	92675	ENSG00000125821			Dtd1 (MGI:1913294)
chr20	19212642	19722926	20p13	20p11.23	609839	SLC24A3, NCKX3	Solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	SLC24A3	57419	ENSG00000185052			Slc24a3 (MGI:2137513)
chr20	19757599	20002456	20p11.22	20p11.23	610222	RIN2, MACS	RAS and RAB interactor 2	RIN2	54453	ENSG00000132669		Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3), Autosomal recessive	Rin2 (MGI:1921280)
chr20	20017290	20033655	20p11.2	20p11.23	610833	NAA20, NAT5, NAT3, MRT73	N-alpha-acetyltransferase 20, NatB catalytic subunit	NAA20	51126	ENSG00000173418		Intellectual developmental disorder, autosomal recessive 73, 619717 (3), Autosomal recessive	Naa20 (MGI:1915127)
chr20	20034368	20056046	20p11.2	20p11.23	610952	CRNKL1, CRN	Crooked neck pre-mRNA splicing factor-like 1	CRNKL1	51340	ENSG00000101343			Crnkl1 (MGI:1914127)
chr20	20052532	20360698	20p11.23	20p11.23	620381	CFAP61, SPGF84	Cilia- and flagella-associated protein 61	CFAP61	26074	ENSG00000089101		Spermatogenic failure 84, 620409 (3), Autosomal recessive	Cfap61 (MGI:1926024)
chr20	20368104	20370949	20p11.2	20p11.23	600010	INSM1, IA1	Insulinoma-associated 1	INSM1	3642	ENSG00000173404			Insm1 (MGI:1859980)
chr20	20389530	20712644	20p11.23	20p11.23	618836	RALGAPA2, AS250, C20orf74	Ral GTPase-activating protein, catalytic subunit alpha-2	RALGAPA2	57186	ENSG00000188559			Ralgapa2 (MGI:3036245)
chr20	21085576	21106358	20p11.23	20p11.23	614992	LINC00237	Long intergenic noncoding RNA 237	LINC00237	105372556	ENSG00000225127			
chr20	21125975	21246622	20p11.23	20p11.23	615757	KIZ, KIZUNA, C20orf19, RP69	Kizuna centrosomal protein	KIZ	55857	ENSG00000088970		Retinitis pigmentosa 69, 615780 (3), Autosomal recessive	Kiz (MGI:2684960)
chr20	21300001	22300000	20p11.22		612421	AGA3	Alopecia, androgenetic, 3		100217387		associated with rs1160312	Alopecia, androgenetic, 3, 612421 (2)	
chr20	21303331	21389825	20p11.2-p11.1	20p11.22	608851	XRN2	Exoribonuclease 2	XRN2	22803	ENSG00000088930			Xrn2 (MGI:894687)
chr20	21395365	21397526	20p11	20p11.22	607808	NKX2-4, NKX2D	NK2 homeobox 4	NKX2-4	644524	ENSG00000125816			Nkx2-4 (MGI:97349)
chr20	21511017	21522689	20p11	20p11.22	604612	NKX2-2, NKX2B	NK2, homeobox 2	NKX2-2	4821	ENSG00000125820			Nkx2-2 (MGI:97347)
chr20	21705664	21718481	20p11.2	20p11.22	167411	PAX1, OTFCS2	Paired box homeotic gene-1	PAX1	5075	ENSG00000125813		Otofaciocervical syndrome 2 with T-cell deficiency, 615560 (3), Autosomal recessive	Pax1 (MGI:97485)
chr20	22560553	22578642	20p11	20p11.21	618518	LINC00261, FALCOR, HCCDR1, DEANR1	Long intergenic noncoding RNA 261	LINC00261	140828	ENSG00000259974			9030622O22Rik (MGI:1918820)
chr20	22580998	22585490	20p11	20p11.21	600288	FOXA2, HNF3B	Forkhead box A2 (hepatic nuclear factor-3, beta)	FOXA2	3170	ENSG00000125798			Foxa2 (MGI:1347476)
chr20	23035312	23039237	20p11.2	20p11.21	182454	SSTR4	Somatostatin receptor-4	SSTR4	6754	ENSG00000132671			Sstr4 (MGI:105372)
chr20	23045633	23049672	20p11.2	20p11.21	188040	THBD, THRM, AHUS6, THPH12	Thrombomodulin	THBD	7056	ENSG00000178726		Thrombophilia 12 due to thrombomodulin defect, 614486 (3), Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3), Autosomal dominant	Thbd (MGI:98736)
chr20	23079360	23086324	20p11.21	20p11.21	120577	C1QR1, CD93, C1QR	Complement component 1, q subcomponent, receptor 1	CD93	22918	ENSG00000125810			Cd93 (MGI:106664)
chr20	23350791	23354771	20p12-p11.2	20p11.21	605811	NXT1, MTR2	NTF2-related export protein 1	NXT1	29107	ENSG00000132661			Nxt1 (MGI:1929619)
chr20	23361127	23373062	20p11.21	20p11.21	613842	GZF1, ZNF336, JLSM	GDNF-inducible zinc finger protein 1	GZF1	64412	ENSG00000125812		Joint laxity, short stature, and myopia, 617662 (3), Autosomal recessive	Gzf1 (MGI:1921783)
chr20	23374522	23421488	20p11.21	20p11.21	611270	NAPB, SNAPB, DEE107	NSF attachment protein, beta	NAPB	63908	ENSG00000125814		Developmental and epileptic encephalopathy 107, 620033 (3), Autosomal recessive	Napb (MGI:104562)
chr20	23450412	23452876	20p11.21	20p11.21	609731	CST11, CST8L	Cystatin 11	CST11	140880	ENSG00000125831			Cst11 (MGI:1925490)
chr20	23491117	23507124	20p11.21	20p11.21	608683	CST8, CRES	Cystatin 8	CST8	10047	ENSG00000125815			Cst8 (MGI:107161)
chr20	23564732	23568484	20p11.2	20p11.21	616536	CST9L	Cystatin 9-like	CST9L	128821	ENSG00000101435			Cst9 (MGI:1340053)
chr20	23602410	23605917	20p11.2	20p11.21	616543	CST9, CLM	Cystatin 9	CST9	128822	ENSG00000173335			Cst9 (MGI:1340053)
chr20	23626706	23637955	20p11.2	20p11.21	604312	CST3, ARMD11	Cystatin C	CST3	1471	ENSG00000101439	proximal to 20p11.2	{Macular degeneration, age-related, 11}, 611953 (3); Cerebral amyloid angiopathy, 105150 (3), Autosomal dominant	Cst3 (MGI:102519)
chr20	23685640	23689038	20p11.2	20p11.21	123857	CST4	Cystatin S	CST4	1472	ENSG00000101441			
chr20	23747562	23750935	20p11.2	20p11.21	123855	CST1	Cystatin SN	CST1	1469	ENSG00000170373			
chr20	23823769	23826729	20p11.2	20p11.21	123856	CST2	Cystatin SA	CST2	1470	ENSG00000170369			
chr20	23875934	23879748	20p11.21	20p11.21	123858	CST5	Cystatin D	CST5	1473	ENSG00000170367			Cst5 (MGI:1930004)
chr20	23985053	23988779	20p11.1	20p11.21	612338	GGTLC1, GGTL6, GGTLA4	Gamma-glutamyltransferase, light chain 1	GGTLC1	92086	ENSG00000149435			Ggt1 (MGI:95706)
chr20	24091535	24111958	20p11.21	20p11.21	618507	WAKMAR1	Wound- and keratinocyte migration-associated long noncoding RNA 1	WAKMAR1	105372576				
chr20	24469629	24666616	20p11.21	20p11.21	614311	SYNDIG1, TMEM90B	Synapse differentiation-induced gene 1	SYNDIG1	79953	ENSG00000101463			Syndig1 (MGI:3702158)
chr20	24949269	24959928	20p11.2	20p11.21	603253	CST7, CMAP	Cystatin 7	CST7	8530	ENSG00000077984			Cst7 (MGI:1298217)
chr20	24962925	24992751	20p11.2	20p11.21	615884	APMAP, C20orf3, BSCV	Adipocyte plasma membrane-associated protein	APMAP	57136	ENSG00000101474			Apmap (MGI:1919131)
chr20	25006237	25058139	20p11.23-p11.21	20p11.21	614355	ACSS1, ACECS1	Acyl-CoA synthetase short-chain family, member 1	ACSS1	84532	ENSG00000154930			Acss1 (MGI:1915988)
chr20	25070880	25082141	20p11.2	20p11.21	605020	VSX1, RINX, KTCN1, CAASDS	Visual system homeobox 1	VSX1	30813	ENSG00000100987	mutation identified in 1 CAASDS family	?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3), Autosomal dominant; Keratoconus 1, 148300 (3), Autosomal dominant	Vsx1 (MGI:1890816)
chr20	25195712	25228075	20q11.2	20p11.21	603160	ENTPD6, CD39L2	Ectonucleoside triphosphate diphosphohydrolase 6	ENTPD6	955	ENSG00000197586			Entpd6 (MGI:1202295)
chr20	25248085	25298012	20p11.2-p11.1	20p11.21	138550	PYGB	Phosphorylase, glycogen, brain	PYGB	5834	ENSG00000100994			Pygb (MGI:97828)
chr20	25294743	25390835	20p11.21	20p11.21	613599	ABHD12, PHARC	Abhydrolase domain-containing protein 12, lysophospholipase	ABHD12	26090	ENSG00000100997		Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3), Autosomal recessive	Abhd12 (MGI:1923442)
chr20	25407673	25448563	20p11.21	20p11.21	610608	GINS1, PSF1, KIAA0186, IMD55	GINS complex subunit 1	GINS1	9837	ENSG00000101003		Immunodeficiency 55, 617827 (3), Autosomal recessive	Gins1 (MGI:1916520)
chr20	25452697	25585531	20p11.21	20p11.21	609580	NINL, KIAA0980	Ninein-like protein	NINL	22981	ENSG00000101004			Ninl (MGI:1925427)
chr20	25612935	25624014	20p11	20p11.21	610763	NANP, HDHD4	N-acetylneuraminic acid phosphatase	NANP	140838	ENSG00000170191			Nanp (MGI:1914561)
chr20	28100001	64444167	20q11-q13		610261	HYT5	Hypertension, essential, susceptibility to, 5		100188807			{Hypertension, essential, susceptibility to, 5}, 145500 (2), Multifactorial	
chr20	28100001	64444167	20q11-q13		617352	MBCS	Mulchandani-Bhoj-Conlin syndrome				maternal uniparental disomy of imprinted region	Mulchandani-Bhoj-Conlin syndrome, 617352 (4), Autosomal dominant	
chr20	28100001	39000000	20q11		620195	OBHP	Obesity and hypopigmentation				rearrangement disrupts normal expression of ASIP	Obesity and hypopigmentation, 620195 (4), Autosomal dominant	
chr20	28100001	64444167	20q11-q13		608029	SCAR6, CLA3	Spinocerebellar ataxia, autosomal recessive 6		1167		between D20S471 and D20S119	Spinocerebellar ataxia, autosomal recessive 6, 608029 (2), Autosomal recessive	
chr20	30400001	39000000	20q11.2		612263	CMM7	Melanoma, cutaneous malignant, susceptibility to, 7		100190932		between rs910873 and rs1885120	{Melanoma, cutaneous malignant, 7}, 612263 (2)	
chr20	30400001	43100000	20q11.2-q12		601308	MLRL, MTS	Myeloid leukemia-related locus (myeloid tumor suppressor)		8201				
chr20	31368601	31373923	20q11	20q11.21	607650	DEFB118, C20orf63, ESC42	Defensin, beta, 118	DEFB118	117285	ENSG00000131068			Defb21 (MGI:2684967)
chr20	31377163	31390649	20q11.1	20q11.21	615997	DEFB119, DEFB120, DEFB20	Defensin, beta, 119	DEFB119	245932	ENSG00000180483			Defb19 (MGI:2385955)
chr20	31404845	31418522	20q11.1	20q11.21	616075	DEFB121, DEFB21	Defensin, beta, 121	DEFB121	245934	ENSG00000204548			
chr20	31421439	31429180	20q11.1	20q11.21	616077	DEFB122, DEFB22	Defensin, beta, 122, pseudogene	DEFB122	245935	ENSG00000290996			
chr20	31440632	31450257	20q11.1	20q11.21	616076	DEFB123, DEFB23	Defensin, beta, 123	DEFB123	245936	ENSG00000180424			Defb36 (MGI:2385956)
chr20	31475288	31484895	20q11.21	20q11.21	610388	REM1, GES	RRAD- and GEM-like GTPase 1	REM1	28954	ENSG00000088320			Rem1 (MGI:1097696)
chr20	31514442	31569543	20q11.21	20q11.21	607106	HM13, SPP	Minor histocompatibility 13 (signal peptide peptidase)	HM13	81502	ENSG00000101294			H13 (MGI:95886)
chr20	31547379	31548081	20q11.21	20q11.21	620406	MCTS2	MCTS family, member 2	MCTS2	100101490	ENSG00000101898			Mcts2 (MGI:1913655)
chr20	31605289	31606510	20q11	20q11.21	600349	ID1	Inhibitor of DNA binding 1, dominant negative	ID1	3397	ENSG00000125968			Id1 (MGI:96396)
chr20	31637912	31645006	20q11.21	20q11.21	607976	COX4I2	Cytochrome c oxidase, subunit IV, isoform 2	COX4I2	84701	ENSG00000131055		Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3), Autosomal recessive	Cox4i2 (MGI:2135755)
chr20	31664452	31723963	20q11.21	20q11.21	600039	BCL2L1, BCLX, BCLXL, BCLXS	BCL2-like 1	BCL2L1	598	ENSG00000171552			Bcl2l1 (MGI:88139)
chr20	31739290	31801800	20q11.2	20q11.21	605917	C20orf1, P100	Proliferation-associated nuclear protein, 100kD	TPX2	22974	ENSG00000088325			Tpx2 (MGI:1919369)
chr20	31819356	31834684	20q13.3	20q11.21	606566	MYLK2, MLCK	Myosin light chain kinase 2	MYLK2	85366	ENSG00000101306		Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3), Digenic dominant, Autosomal dominant	Mylk2 (MGI:2139434)
chr20	31844303	31845604	20q11.1-q11.2	20q11.21	602939	FOXS1, FKHL18, FREAC10	Forkhead box S1	FOXS1	2307	ENSG00000179772			Foxs1 (MGI:95546)
chr20	31845593	31870664	20q11.21	20q11.21	616776	DUSP15, VHY	Dual-specificity phosphatase 15	DUSP15	128853	ENSG00000149599			Dusp15 (MGI:1934928)
chr20	31870634	31945000	20q11.21	20q11.21	619838	TTLL9, C20orf125	Tubulin tyrosine ligase-like 9	TTLL9	164395	ENSG00000131044			Ttll9 (MGI:1913589)
chr20	31944337	31952046	20q11	20q11.21	610789	PDRG1, PDRG, C20orf126	P53 and DNA damage-regulated 1	PDRG1	81572	ENSG00000088356			Pdrg1 (MGI:1915809)
chr20	32052242	32101856	20q11.21	20q11.21	142370	HCK, AIPCV	HCK protooncogene, Src family tyrosine kinase	HCK	3055	ENSG00000101336		Autoinflammation with pulmonary and cutaneous vasculitis, 620296 (3), Autosomal dominant	Hck (MGI:96052)
chr20	32109714	32167256	20q11.21	20q11.21	617727	TM9SF4, KIAA0255	Transmembrane 9 superfamily, member 4	TM9SF4	9777	ENSG00000101337			Tm9sf4 (MGI:2139220)
chr20	32192504	32207743	20q11.21	20q11.21	604866	PLAGL2	PLAG1-like zinc finger 2	PLAGL2	5326	ENSG00000126003			Plagl2 (MGI:1933165)
chr20	32207880	32238658	20q11.21	20q11.21	607491	POFUT1, OFUCT1, KIAA0180, DDD2	Protein O-fucosyltransferase 1	POFUT1	23509	ENSG00000101346		Dowling-Degos disease 2, 615327 (3), Autosomal dominant	Pofut1 (MGI:2153207)
chr20	32277651	32335011	20q11.21	20q11.21	603754	KIF3B, KIAA0359, RP89	Kinesin family member 3B	KIF3B	9371	ENSG00000101350		Retinitis pigmentosa 89, 618955 (3), Autosomal dominant	Kif3b (MGI:107688)
chr20	32358331	32439319	20q11.21	20q11.21	612990	ASXL1, KIAA0978, BOPS, MDS	ASXL transcriptional regulator 1	ASXL1	171023	ENSG00000171456		Myelodysplastic syndrome, somatic, 614286 (3); Bohring-Opitz syndrome, 605039 (3), Autosomal dominant	Asxl1 (MGI:2684063)
chr20	32443059	32585333	20q11.21	20q11.21	618893	NOL4L, C20orf112	Nucleolar protein 4-like	NOL4L	140688	ENSG00000197183			Nol4l (MGI:1918765)
chr20	32702699	32743467	20q11.21	20q11.21	616703	COMMD7	COMM domain-containing protein 7	COMMD7	149951	ENSG00000149600			Commd7 (MGI:1914197)
chr20	32762385	32809356	20q11.2	20q11.21	602900	DNMT3B, ICF1, FSHD4	DNA methyltransferase 3B	DNMT3B	1789	ENSG00000088305		Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3), Autosomal recessive; Facioscapulohumeral muscular dystrophy 4, digenic, 619478 (3), Digenic dominant	Dnmt3b (MGI:1261819)
chr20	32819777	32850405	20q11.1-q11.23	20q11.21	603108	MAPRE1, EB1	Microtubule-associated protein, RP/EB family, member 1	MAPRE1	22919	ENSG00000101367			Mapre1 (MGI:891995)
chr20	32983775	33004433	20q11.2	20q11.21	613942	SUN5, TSARG4, SPAG4L, SPGF16	Sad1 and Unc84 domain-containing protein 5	SUN5	140732	ENSG00000167098		Spermatogenic failure 16, 617187 (3), Autosomal recessive	Sun5 (MGI:1923657)
chr20	33007704	33023703	20q11	20q11.21	614108	BPIFB2, BPIL1	BPI fold-containing protein, family B, member 2	BPIFB2	80341	ENSG00000078898			Bpifb2 (MGI:1913807)
chr20	33031648	33044108	20q11	20q11.21	614110	BPIFB6, BPIL3	BPI fold-containing protein, family B, member 6	BPIFB6	128859	ENSG00000167104			Bpifb6 (MGI:2684965)
chr20	33053903	33073847	20q11.21	20q11.21	615717	BPIFBP3, RYA3	BPI fold-containing protein, family B, member 3	BPIFB3	359710	ENSG00000186190			Bpifb3 (MGI:2675077)
chr20	33079643	33111751	20q11.21	20q11.21	615718	BPIFB4, RY2G5	BPI fold-containing protein, family B, member 4	BPIFB4	149954	ENSG00000186191			Bpifb4 (MGI:2685852)
chr20	33193605	33210462	20q11.21	20q11.21	607627	BPIFA4P, BASE	BPI fold-containing protein, family A, member 4, pseudogene	BPIFA4P	317716	ENSG00000290942			
chr20	33235996	33243306	20q11	20q11.21	607412	BPIFA1, PLUNC, SPLUNC1	BPI fold-containing protein, family A, member 1	BPIFA1	51297	ENSG00000198183			Bpifa1,Bpifa5 (MGI:1338036,MGI:1914385)
chr20	33358839	33401569	20q11.2	20q11.21	608200	CDK5RAP1	CDK5 regulatory subunit-associated protein 1	CDK5RAP1	51654	ENSG00000101391			Cdk5rap1 (MGI:1914221)
chr20	33407957	33443763	20q11.2	20q11.21	601017	SNTA1, SNT1, TACIP1, LQT12	Syntrophin, alpha-1	SNTA1	6640	ENSG00000101400		Long QT syndrome 12, 612955 (3), Autosomal dominant	Snta1 (MGI:101772)
chr20	33490096	33650030	20q11.2	20q11.21-q11.22	603672	CBFA2T2, MTGR1, EHT	Core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (ETO homolog on chromosome 20)	CBFA2T2	9139	ENSG00000078699			Cbfa2t2 (MGI:1333833)
chr20	33500001	35800000	20q11.22		612228	STQTL14	Stature quantitative trait locus 14		100270797		associated with rs6060373	{Stature QTL 14}, 612228 (2)	
chr20	33657087	33675348	20q11.22	20q11.22	612478	NECAB3, EFCBP3, NIP1, APBA2BP, XB51, STIP3	N-terminal EF-hand calcium-binding protein 3	NECAB3	63941	ENSG00000125967			Necab3 (MGI:1861721)
chr20	33675477	33686385	20q11.2	20q11.22	189971	E2F1	E2F transcription factor-1	E2F1	1869	ENSG00000101412			E2f1 (MGI:101941)
chr20	33702758	33720310	20q11.22	20q11.22	616397	PXMP4, PMP24	Peroxisomal membrane protein 4	PXMP4	11264	ENSG00000101417			Pxmp4 (MGI:1891701)
chr20	33731996	33792269	20q11.22	20q11.22	618269	ZNF341, HIES3	Zinc finger protein 341	ZNF341	84905	ENSG00000131061		Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections, 618282 (3), Autosomal recessive	Zfp341 (MGI:2682937)
chr20	33811348	33854366	20q11.21	20q11.22	610897	CHMP4B, SNF7, CTPP3, CTRCT31	Charged multivesicular body protein 4B	CHMP4B	128866	ENSG00000101421		Cataract 31, multiple types, 605387 (3), Autosomal dominant	Chmp4b (MGI:1922858)
chr20	33993911	34084884	20q11.22	20q11.22	614663	RALY	RALY heterogeneous nuclear ribonuclear protein	RALY	22913	ENSG00000125970			Raly (MGI:97850)
chr20	34088309	34112243	20q11.22	20q11.22	603908	EIF2S2	Eukaryotic translation initiation factor 2, subunit 2	EIF2S2	8894	ENSG00000125977			Eif2s2 (MGI:1914454)
chr20	34186493	34269344	20q11.2	20q11.22	600201	ASIP, AGTIL, SHEP9	Agouti, mouse, signaling protein	ASIP	434	ENSG00000101440		[Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3); [Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3)	a (MGI:87853)
chr20	34231981	34311836	20cen-q13.1	20q11.22	180960	AHCY, SAHH	S-adenosylhomocysteine hydrolase	AHCY	191	ENSG00000101444		Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3), Autosomal recessive	Ahcy,Ahcyl (MGI:3643647,MGI:87968)
chr20	34363273	34511773	20q11.22-q11.23	20q11.22	606409	ITCH, AIP4, NAPP1, ADMFD	Itchy, mouse, homolog of	ITCH	83737	ENSG00000078747		Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3), Autosomal recessive	Itch (MGI:1202301)
chr20	34515602	34540958	20q12-q13.11	20q11.22	607167	DYNLRB1, DNCL2A, DNLC2A	Dynein, light chain, roadblock type, 1	DYNLRB1	83658	ENSG00000125971			Dynlrb1 (MGI:1914318)
chr20	34546844	34560345	20cen-q13	20q11.22	601242	MAP1ALC3, MAP1BLC3	Microtubule-associated proteins 1A and 1B, light chain 3	MAP1LC3A	84557	ENSG00000101460			Map1lc3a (MGI:1915661)
chr20	34560542	34677092	20q11.22	20q11.22	608528	PIGU, CDC91L1, GPIBD21, NEDBSS	Phosphatidylinositol glycan anchor biosynthesis class U protein	PIGU	128869	ENSG00000101464		Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, 618590 (3), Autosomal recessive	Pigu (MGI:3039607)
chr20	34704344	34713436	20q11.2	20q11.22	617549	TP53INP2, PIGU, DOR, C20orf110	Tumor protein p53-inducible nuclear protein 2	TP53INP2	58476	ENSG00000078804			Trp53inp2 (MGI:1915978)
chr20	34714774	34825651	20q11	20q11.22	605299	NCOA6, ASC2, RAP250, NRC, PRIP	Nuclear receptor coactivator 6	NCOA6	23054	ENSG00000198646			Ncoa6 (MGI:1929915)
chr20	34844720	34872856	20q11.2	20q11.22	612342	GGT7, GGTL3, GGTL5, GGT4	Gamma-glutamyltransferase 7	GGT7	2686	ENSG00000131067			Ggt7 (MGI:1913385)
chr20	34874989	34927959	20q11.22	20q11.22	605832	ACSS2, ACS	Acetyl-CoA synthetase short-chain family member 2	ACSS2	55902	ENSG00000131069			Acss2 (MGI:1890410)
chr20	34928432	34956027	20q11.2	20q11.22	601002	GSS, GSHS, CNSHA6	Glutathione synthetase	GSS	2937	ENSG00000100983		Anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient, 231900 (3), Autosomal recessive; Glutathione synthetase deficiency, 266130 (3), Autosomal recessive	Gss (MGI:95852)
chr20	34955868	35002437	20q11.22	20q11.22	609928	MYH7B, MYH14, KIAA1512	Myosin, heavy chain 7B, cardiac muscle, beta	MYH7B	57644	ENSG00000078814			Myh7b (MGI:3710243)
chr20	34990376	34990497	20q11.22	20q11.22	613614	MIR499, MIRN499	Micro RNA 499	MIR499A	574501	ENSG00000207635			Mir499 (MGI:3629633)
chr20	35002404	35092807	20q11.23	20q11.22	608430	TRPC4AP, TRUSS	TRPC4-associated protein	TRPC4AP	26133	ENSG00000100991			Trpc4ap (MGI:1930751)
chr20	35115364	35147336	20q11.22	20q11.22	610302	EDEM2	Endoplasmic reticulum degradation-enhancing alpha-mannosidase-like protein 2	EDEM2	55741	ENSG00000088298			Edem2 (MGI:1915540)
chr20	35171096	35216259	20q11.2	20q11.22	600646	PROCR, EPCR, CCCA, CCD41	Protein C receptor	PROCR	10544	ENSG00000101000			Procr (MGI:104596)
chr20	35226690	35276998	20q11.2	20q11.22	604871	MMP25	Matrix metalloproteinase 24	MMP24	10893	ENSG00000125966			Mmp24 (MGI:1341867)
chr20	35278906	35284772	20q11.2	20q11.22	602912	EIF6, EIF3A, ITGB4BP	Eukaryotic translation initiation factor 6	EIF6	3692	ENSG00000242372			Eif6 (MGI:1196288)
chr20	35302578	35411973	20q11.22	20q11.22	611797	UQCC, CBP3, BFZB, C20orf44	Ubiquinol-cytochrome C reductase complex chaperone	UQCC1	55245	ENSG00000101019			Uqcc1 (MGI:1929472)
chr20	35433347	35454749	20q11.2	20q11.22	601146	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	Growth/differentiation factor-5 (cartilage-derived morphogenetic protein-1)	GDF5	8200	ENSG00000125965	mutation identified in 1 AMD2C family	Acromesomelic dysplasia 2A, 200700 (3), Autosomal recessive; Acromesomelic dysplasia 2B, 228900 (3), Autosomal recessive; Multiple synostoses syndrome 2, 610017 (3), Autosomal dominant; Symphalangism, proximal, 1B, 615298 (3), Autosomal dominant; Brachydactyly, type A2, 112600 (3), Autosomal dominant; ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3), Autosomal recessive; Brachydactyly, type C, 113100 (3), Autosomal dominant; {Osteoarthritis-5}, 612400 (3); Brachydactyly, type A1, C, 615072 (3), Autosomal recessive, Autosomal dominant	Gdf5 (MGI:95688)
chr20	35455165	35519280	20q11.2	20q11.22	609689	CEP250, CEP2, CNAP1, CRDHL2	Centrosomal protein, 250kD	CEP250	11190	ENSG00000126001		Cone-rod dystrophy and hearing loss 2, 618358 (3), Autosomal recessive	Cep250 (MGI:108084)
chr20	35542078	35557634	20q11.22	20q11.22	616971	ERGIC3, C2orf47	Endoplasmic reticulum-golgi intermediate compartment protein 3	ERGIC3	51614	ENSG00000125991			Ergic3 (MGI:1913616)
chr20	35615829	35621094	20q11.2	20q11.22	603038	SPAG4	Sperm-associated antigen-4	SPAG4	6676	ENSG00000061656			Spag4 (MGI:2444120)
chr20	35626044	35664900	20q11.22	20q11.22	604205	CPNE1, CPN1	Copine I	CPNE1	8904	ENSG00000214078			Cpne1 (MGI:2386621)
chr20	35648925	35664900	20q11.2	20q11.22	607179	RBM12, KIAA0765, SCZD19	RNA-binding motif protein 12	RBM12	10137	ENSG00000244462		{Schizophrenia 19, susceptibility to}, 617629 (3), Autosomal dominant	Rbm12 (MGI:1922960)
chr20	35668052	35699352	20q11.22	20q11.22	603485	NFS1, NIFS, COXPD52	NFS1 cysteine desulfurase 1	NFS1	9054	ENSG00000244005		Combined oxidative phosphorylation deficiency 52, 619386 (3), Autosomal recessive	Nfs1 (MGI:1316706)
chr20	35699405	35700980	20q11.22	20q11.22	618894	ROMO1, GLYRICHIN	Reactive oxygen species modulator 1	ROMO1	140823	ENSG00000125995			Romo1 (MGI:1914317)
chr20	35701347	35742260	20q11.22	20q11.22	604739	RBM39, CAPER, RNPC2	RNA binding motif protein 39	RBM39	9584	ENSG00000131051			Rbm39 (MGI:2157953)
chr20	35772015	35950370	20q11.1-q11.23	20q11.22-q11.23	610335	PHF20, GLEA2, HCA58	PHD finger protein 20	PHF20	51230	ENSG00000025293			Phf20 (MGI:2444148)
chr20	35953624	35959472	20q11.23	20q11.23	610416	SCAND1, RAZ1, SDP1	SCAN domain-containing 1	SCAND1	51282	ENSG00000171222			Scand1 (MGI:1343132)
chr20	36045618	36050960	20q11.23	20q11.23	617037	NORAD, LINC00657	Noncoding RNA activated by DNA damage	NORAD	647979	ENSG00000260032			Norad (MGI:1914767)
chr20	36091414	36232799	20q11.2-q12	20q11.23	602879	EPB41L1, MRD11	Erythrocyte membrane protein band 4.1-like 1	EPB41L1	2036	ENSG00000088367	mutation identified in 1 MRD11 patient	?Intellectual developmental disorder, autosomal dominant 11, 614257 (3), Autosomal dominant	Epb41l1 (MGI:103010)
chr20	36236478	36256933	20q11.23	20q11.23	617365	AAR2, C20orf4	AAR2 splicing factor	AAR2	25980	ENSG00000131043			Aar2 (MGI:1915545)
chr20	36306339	36528633	20q11.23	20q11.23	616191	DLGAP4, SAPAP4, KIAA0964	Discs LARGE-associated protein 4	DLGAP4	22839	ENSG00000080845	noncoding RNAs transcribed from intron 1 are expressed in all tissues		Dlgap4 (MGI:2138865)
chr20	36541519	36551447	20q11.23	20q11.23	609905	MYL9, MLC2, MMIHS4	Myosin light chain 9, regulatory	MYL9	10398	ENSG00000101335	mutation identified in 1 MMIHS4 patient	?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, 619365 (3), Autosomal recessive	Myl9 (MGI:2138915)
chr20	36573464	36593950	20q11.2-q12	20q11.23	607294	TGIF2	Transforming growth factor-beta-induced factor 2	TGIF2	60436	ENSG00000118707			Tgif2 (MGI:1915299)
chr20	36605779	36612557	20q11.23	20q11.23	619960	RAB5IF, C20orf24, CFSMR2	RAB5-interacting factor	RAB5IF	55969	ENSG00000101084	mutation identified in 1 CFSMR2 patient	?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, 616994 (3), Autosomal recessive	Rab5if (MGI:1914638)
chr20	36612318	36646196	20q11.23	20q11.23	606577	SLA2, SLAP2	SRC-like adaptor 2	SLA2	84174	ENSG00000101082			Sla2 (MGI:1925049)
chr20	36651771	36746090	20q11.21-q11.23	20q11.23	605273	NDRG3	N-myc downstream-regulated gene 3	NDRG3	57446	ENSG00000101079			Ndrg3 (MGI:1352499)
chr20	36751795	36773763	20q11.23	20q11.23	609175	DSN1, C20orf172	DSN1 homolog, MIS12 kinetochore complex component	DSN1	79980	ENSG00000149636			Dsn1 (MGI:1914184)
chr20	36777447	36863538	20q11	20q11.23	620225	SOGA1	Suppressor glucose, autophagy-associated protein 1	MTCL2	140710	ENSG00000149639			Mtcl2 (MGI:2444575)
chr20	36889773	36951708	20q11.2	20q11.23	606754	SAMHD1, AGS5, DCIP, CHBL2	SAM domain- and HD domain-containing protein 1	SAMHD1	25939	ENSG00000101347	mutation identified in 1 CHBL2 family	?Chilblain lupus 2, 614415 (3), Autosomal dominant; Aicardi-Goutieres syndrome 5, 612952 (3), Autosomal recessive	Samhd1 (MGI:1927468)
chr20	36996349	37095997	20q11.2	20q11.23	116957	RBL1, CP107	RB transcriptional corepressor-like 1	RBL1	5933	ENSG00000080839			Rbl1 (MGI:103300)
chr20	37179330	37241619	20q12-q13.1	20q11.23	180490	RPN2	Ribophorin II	RPN2	6185	ENSG00000118705			Rpn2 (MGI:98085)
chr20	37251086	37261814	20q11.2	20q11.23	139190	GHRH, GHRF	Growth hormone releasing hormone (somatocrinin)	GHRH	2691	ENSG00000118702		Gigantism due to GHRF hypersecretion (1); ?Isolated growth hormone deficiency due to defect in GHRF (1)	Ghrh (MGI:95709)
chr20	37344699	37406050	20q12-q13	20q11.23	190090	SRC, ASV, SRC1, THC6	Protooncogene SRC, Rous sarcoma	SRC	6714	ENSG00000197122	mutation identified in 1 THC6 family	?Thrombocytopenia 6, 616937 (3), Autosomal dominant; Colon cancer, advanced, somatic, 114500 (3)	Src (MGI:98397)
chr20	37517417	37527876	20q11.2-q12	20q11.23	613110	BLCAP, BC10	Bladder cancer-associated protein	BLCAP	10904	ENSG00000166619			Blcap (MGI:1858907)
chr20	37521250	37523690	20q11.2-q12	20q11.23	603106	NNAT	Neuronatin	NNAT	4826	ENSG00000053438			Nnat (MGI:104716)
chr20	37694030	37872118	20q11.2-q12	20q11.23	611537	CTNNBL1, NAP, IMD99	Catenin, beta-like, 1	CTNNBL1	56259	ENSG00000132792	mutation identified in 1 IMD99 patient	?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, 619846 (3), Autosomal recessive	Ctnnbl1 (MGI:1913892)
chr20	37903127	37945350	20q11.23	20q11.23	616537	VSTM2L, C20orf102	V-SET and transmembrane domains-containing protein 2-like	VSTM2L	128434	ENSG00000132821			Vstm2l (MGI:2685537)
chr20	37983021	38033456	20q11.23	20q11.23	614425	TTI1, KIAA0406, NEDMIM	TELO2-interacting protein 1	TTI1	9675	ENSG00000101407		Neurodevelopmental disorder with microcephaly and movement abnormalities, 620445 (3), Autosomal recessive	Tti1 (MGI:1922675)
chr20	38033746	38092364	20q11.23	20q11.23	614694	RPRD1B, CREPT	Regulation of nuclear pre-mRNA domain-containing protein 1B	RPRD1B	58490	ENSG00000101413			Rprd1b (MGI:1917720)
chr20	38127385	38168475	20q11.2-q12	20q11.23	190196	TGM2	Transglutaminase-2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)	TGM2	7052	ENSG00000198959			Tgm2 (MGI:98731)
chr20	38304156	38337505	20q11.23-q12	20q11.23	109195	BPI	Bactericidal/permeability-increasing protein	BPI	671	ENSG00000101425			Bpi (MGI:3045315)
chr20	38346482	38377013	20q11.23-q12	20q11.23	151990	LBP	Lipopolysaccharide-binding protein	LBP	3929	ENSG00000129988			Lbp (MGI:1098776)
chr20	38420588	38435328	20q11.23	20q11.23	620808	SNHG17	Small nucleolar RNA host gene 17	SNHG17	388796	ENSG00000196756			
chr20	38446654	38450921	20q11.23	20q11.23	619494	SNHG11, LINC00101	Small nucleolar RNA host gene 11, noncoding	SNHG11	128439	ENSG00000174365			Snhg11 (MGI:2441845)
chr20	38472843	38578858	20q11.23	20q11.23	618833	RALGAPB	Ral GTPase-activating protein, noncatalytic subunit beta	RALGAPB	57148	ENSG00000170471			Ralgapb (MGI:2444531)
chr20	38581197	38588463	20q11.23	20q11.23	611396	ADIG, SMAF1	Adipogenin	ADIG	149685	ENSG00000182035			Adig (MGI:2675492)
chr20	38724486	38729372	20q11.23	20q11.23	616440	SLC32A1, VGAT, VIAAT, GEFSP12, DEE114	Solute carrier family 32 (GABA vesicular transporter), member 1	SLC32A1	140679	ENSG00000101438		Generalized epilepsy with febrile seizures plus, type 12, 620755 (3), Autosomal dominant; Developmental and epileptic encephalopathy 114, 620774 (3), Autosomal dominant	Slc32a1 (MGI:1194488)
chr20	38748460	38772520	20q11.23	20q11.23	619730	ACTR5, ARP5	Actin-related protein 5	ACTR5	79913	ENSG00000101442			Actr5 (MGI:1924748)
chr20	38805697	38923024	20q11.22-q12	20q11.23	613275	PPP1R16B, TIMAP, KIAA0823	Protein phosphatase 1, regulatory subunit 16B	PPP1R16B	26051	ENSG00000101445			Ppp1r16b (MGI:2151841)
chr20	38926417	38953106	20q11.23	20q11.23	618380	FAM83D, CHICA	Family with sequence similarity 83, member D	FAM83D	81610	ENSG00000101447			Fam83d (MGI:1919128)
chr20	39000001	47800000	20q12-q13.12		613938	PSMNSW	Parasomnia, sleepwalking type		100653383		between 55.6 and 61.4 cM	Parasomnia, sleepwalking type, 613938 (2), Multifactorial, Autosomal dominant	
chr20	39000001	51200000	20q12-q13.1		603694	T2D3	Type 2 diabetes mellitus 3		50982			{Type 2 diabetes mellitus 3}, 603694 (2)	
chr20	40004461	40008529	20q11.23	20q12	617038	LINC01370, HILNC25	Long intergenic noncoding RNA 1370	LINC01370	100505663	ENSG00000237767			
chr20	40685848	40689236	20q11.2-q13.1	20q12	608968	MAFB, KRML, MCTO, DURS3	MAF bZIP transcription factor B	MAFB	9935	ENSG00000204103		Duane retraction syndrome 3, 617041 (3), Autosomal dominant; Multicentric carpotarsal osteolysis syndrome, 166300 (3), Autosomal dominant	Mafb (MGI:104555)
chr20	41028822	41124487	20q12-q13.1	20q12	126420	TOP1	Topoisomerase (DNA) I	TOP1	7150	ENSG00000198900	pseudogenes on chr.1 and 22	DNA topoisomerase I, camptothecin-resistant (3)	Top1 (MGI:98788)
chr20	41137543	41177626	20q12-q13.1	20q12	172420	PLCG1, PLC1, IDAA	Phospholipase C, gamma 1 (formerly subtype 148)	PLCG1	5335	ENSG00000124181	mutation identified in 1 IDAA patient	?Immune dysregulation, autoimmunity, and autoinflammation, 620514 (3), Autosomal dominant	Plcg1 (MGI:97615)
chr20	41178455	41317731	20q12	20q12	609598	ZHX3, KIAA0395	Zinc finger and homeodomain protein-3	ZHX3	23051	ENSG00000174306			Zhx3 (MGI:2444772)
chr20	41340821	41360582	20q	20q12	605520	LPIN3	Lipin 3	LPIN3	64900	ENSG00000132793			Lpin3 (MGI:1891342)
chr20	41359962	41366818	20q12	20q12	608929	EMILIN3	Elastin microfibril interfacer 3	EMILIN3	90187	ENSG00000183798			Emilin3 (MGI:2389142)
chr20	41402083	41618377	20q11.23-q12	20q12	616114	CHD6, CHD5, RIGB	Chromodomain helicase DNA-binding protein 6	CHD6	84181	ENSG00000124177			Chd6 (MGI:1918639)
chr20	42031890	43189906	20q12-q13.1	20q12-q13.11	608712	PTPRT, KIAA0283	Protein-tyrosine phosphatase, receptor-type, T	PTPRT	11122	ENSG00000196090			Ptprt (MGI:1321152)
chr20	43100001	64444167	20q13		608878	GEVQ2	Gene expression, variation in, quantitative trait locus on chromosome 20		474333			{Gene expression, variation in, QTL}, 608878 (2)	
chr20	43100001	43500000	20q13.11		603388	GRD2	Graves disease, susceptibility to, 2		50976			{Graves disease, susceptibility to, 2}, 603388 (2)	
chr20	43100001	64444167	20q13		608656	HPC3	Prostate cancer, hereditary, 3		408259			{Prostate cancer, susceptibility to, 3}, 608656 (2)	
chr20	43100001	64444167	20q13		612566	IBD24	Inflammatory bowel disease 24		100270798		associated with rs2315008 and rs4809330	{Inflammatory bowel disease 24}, 612566 (2)	
chr20	43100001	64444167	20q13		612950	PSORS12	Psoriasis susceptibility 12				associated with rs495337	{Psoriasis susceptibility 12}, 612950 (2)	
chr20	43100001	64444167	20q13		610066	SLEB8	Systemic lupus erythematosus, susceptibility to, 8		100188804			{Systemic lupus erythematosus, susceptibility to, 8}, 610066 (2)	
chr20	43457896	43464243	20q13.11	20q13.11	601944	SRSF6, SFRS6, SRp55	Splicing factor, serine/arginine-rich, 6	SRSF6	6431	ENSG00000124193			Srsf6 (MGI:1915246)
chr20	43507697	43550954	20q12	20q13.12	608802	L3MBTL1, L3MBTL, KIAA0681	L3MBTL histone methyl-lysine-binding protein 1	L3MBTL1	26013	ENSG00000185513			L3mbtl1 (MGI:2676663)
chr20	43559027	43585627	20q13.2	20q13.12	607589	SGK2	Serum/glucocorticoid-regulated kinase 2	SGK2	10110	ENSG00000101049			Sgk2 (MGI:1351318)
chr20	43590937	43647299	20q13.12	20q13.12	617094	IFT52	Intraflagellar transport 52	IFT52	51098	ENSG00000101052		Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3), Autosomal recessive	Ift52 (MGI:2387217)
chr20	43667114	43716482	20q13.1	20q13.12	601415	MYBL2, BMYB	v-myb avian myeloblastosis viral oncogene homolog-like 2	MYBL2	4605	ENSG00000101057			Mybl2 (MGI:101785)
chr20	43914852	44069616	20q13.12	20q13.12	611163	TOX2, GCX1, C20orf100	TOX high mobility group box family member 2	TOX2	84969	ENSG00000124191			Tox2 (MGI:3611233)
chr20	44106590	44187188	20q12	20q13.12	605267	JPH2, JP2, CMH17, CMD2E	Junctophilin 2	JPH2	57158	ENSG00000149596		Cardiomyopathy, dilated, 2E, 619492 (3), Autosomal recessive; Cardiomyopathy, hypertrophic, 17, 613873 (3), Autosomal dominant	Jph2 (MGI:1891496)
chr20	44302840	44311202	20q13.12	20q13.12	612029	FITM2, FIT2, C20orf142, SIDDIS	Fat storage-inducing transmembrane protein 2	FITM2	128486	ENSG00000197296		Siddiqi syndrome, 618635 (3), Autosomal recessive	Fitm2 (MGI:2444508)
chr20	44355699	44434596	20q12-q13.1	20q13.12	600281	HNF4A, TCF14, MODY1, FRTS4	Hepatocyte nuclear factor 4, alpha (transcription factor-14)	HNF4A	3172	ENSG00000101076		Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant; MODY, type I, 125850 (3), Autosomal dominant	Hnf4a (MGI:109128)
chr20	44496221	44522070	20q13.1-q13.3	20q13.12	607165	SERINC3, TDE1	Serine incorporator 3	SERINC3	10955	ENSG00000132824			Serinc3 (MGI:1349457)
chr20	44531875	44619037	20q	20q13.12	604932	PKIG	Protein kinase, cAMP-dependent catalytic, inhibitor gamma	PKIG	11142	ENSG00000168734			Pkig (MGI:1343086)
chr20	44619522	44651699	20q13.11	20q13.12	608958	ADA	Adenosine deaminase	ADA	100	ENSG00000196839		Adenosine deaminase deficiency, partial, 102700 (3), Autosomal recessive, Somatic mosaicism; Severe combined immunodeficiency due to ADA deficiency, 102700 (3), Autosomal recessive, Somatic mosaicism	Ada (MGI:87916)
chr20	44714861	44727811	20q13.12	20q13.12	603399	CCN5, WISP2	Cellular communication network factor 5	CCN5	8839	ENSG00000064205			Ccn5 (MGI:1328326)
chr20	44745865	44752313	20q12-q13	20q13.12	607368	KCNK15, TASK5	Potassium channel, subfamily K, member 15	KCNK15	60598	ENSG00000124249			Kcnk15 (MGI:2675209)
chr20	44751808	44810546	20q13.3	20q13.12	611601	RIMS4	Protein regulating synaptic membrane exocytosis 4	RIMS4	140730	ENSG00000101098			Rims4 (MGI:2674366)
chr20	44885705	44908532	20q13.1	20q13.12	601289	YWHAB	Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	YWHAB	7529	ENSG00000166913			Ywhab (MGI:1891917)
chr20	44910060	44939316	20q13.12	20q13.12	621055	PABPC1L, EPAB, OZEMA22	Polyadenylate-binding protein, cytoplasmic, 1-like	PABPC1L	80336	ENSG00000101104		Oocyte/zygote/embryo maturation arrest 22, 621093 (3), Autosomal recessive	Pabpc1l (MGI:1922908)
chr20	44942130	44960397	20q13.12	20q13.12	616049	TOMM34, TOM34	Translocase of outer mitochondrial membrane 34	TOMM34	10953	ENSG00000025772			Tomm34 (MGI:1914395)
chr20	44966512	45080021	20q13.2	20q13.12	604965	STK4, MST1, KRS2, TIIAC	Serine/threonine protein kinase 4	STK4	6789	ENSG00000101109		T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3), Autosomal recessive	Stk4 (MGI:1929004)
chr20	45091214	45101127	20q13.12	20q13.12	602905	KCNS1, KV9.1	Potassium channel, voltage-gated, delayed-rectifier, subfamily S, member 1	KCNS1	3787	ENSG00000124134			Kcns1 (MGI:1197019)
chr20	45109463	45116319	20q12-q13.2	20q13.12	605161	WFDC5, PRG5, WAP1	WAP 4-disulfide core domain 5	WFDC5	149708	ENSG00000175121			Wfdc5 (MGI:2384800)
chr20	45123425	45124465	20q12-q13.1	20q13.12	609872	WFDC12, WAP2, SWAM2	Wap 4-disulfide core domain 12	WFDC12	128488	ENSG00000168703			Wfdc12 (MGI:2183434)
chr20	45174902	45176544	20q12-q13	20q13.12	182257	PI3	Protease inhibitor 3, skin derived (SKALP)	PI3	5266	ENSG00000124102			
chr20	45207033	45209768	20q12-q13.1	20q13.12	182140	SEMG1, SEMG	Semenogelin	SEMG1	6406	ENSG00000124233			Semg1,Svs3a,Svs3b (MGI:1858275,MGI:1927635,MGI:3583778)
chr20	45221373	45224458	20q12-q13.1	20q13.12	182141	SEMG2	Semenogelin II	SEMG2	6407	ENSG00000124157			Semg1,Svs3a,Svs3b (MGI:1858275,MGI:1927635,MGI:3583778)
chr20	45252239	45254564	20q13.12	20q13.12	107285	SLPI, HUSI	Secretory leukocyte protease inhibitor	SLPI	6590	ENSG00000124107			Slpi (MGI:109297)
chr20	45293450	45308684	20q13.1-q13.2	20q13.12	603897	MATN4	Matrilin 4	MATN4	8785	ENSG00000124159			Matn4 (MGI:1328314)
chr20	45306840	45317824	20q13.12	20q13.12	616104	RBPJL, RBPL, SUHL	RBPJ-like protein	RBPJL	11317	ENSG00000124232			Rbpjl (MGI:1196616)
chr20	45325288	45348424	20q12-q13	20q13.12	600017	SDC4	Syndecan 4 (amphiglycan, ryudocan)	SDC4	6385	ENSG00000124145			Sdc4 (MGI:1349164)
chr20	45361949	45376798	20q13.12	20q13.12	612979	SYS1	SYS1 golgi trafficking protein	SYS1	90196	ENSG00000204070			Sys1 (MGI:1913710)
chr20	45372557	45378325	20q13.12	20q13.12	617316	TP53TG5	TP53 target gene 5	TP53TG5	27296	ENSG00000124251			Trp53tg5 (MGI:1920853)
chr20	45405993	45410610	20q12	20q13.12	611453	DBNDD2, HSMNP1	Dysbindin domain-containing 2	DBNDD2	55861	ENSG00000244274			Dbndd2 (MGI:106562)
chr20	45416141	45426241	20q13.12	20q13.12	610272	PIGT, NDAP, PNH2, MCAHS3	Phosphatidylinositol glycan, class T	PIGT	51604	ENSG00000124155	mutation identified in 1 PNH2 family	?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3), Somatic mutation, Autosomal dominant; Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3), Autosomal recessive	Pigt (MGI:1926178)
chr20	45469753	45481532	20q13.12	20q13.12	617548	WFDC2, HE4, WAP5, BENP	WAP 4-disulfide core domain 2	WFDC2	10406	ENSG00000101443		Bronchiectasis and nasal polyposis, 620984 (3), Autosomal recessive	Wfdc2 (MGI:1914951)
chr20	45512461	45515622	20q12-q13.1	20q13.12	613941	SPINT3	Serin protease inhibitor, Kunitz-type, 3	SPINT3	10816	ENSG00000101446			Spint3 (MGI:3651470)
chr20	45540626	45547401	20q13.2	20q13.12	609031	EPPIN, SPINLW1, EPPIN, WAP7	Epididymal protease inhibitor	EPPIN	57119	ENSG00000101448			Eppin,Wfdc6a (MGI:1922776,MGI:2684968)
chr20	45722347	45725830	20q13.1	20q13.12	619430	SPINT4	Serine peptidase inhibitor, Kunitz-type, 4	SPINT4	391253	ENSG00000149651			Spint4 (MGI:1925489)
chr20	45791954	45811418	20q13.12	20q13.12	611388	DNTTIP1, TDIF1, C20orf167	Deoxynucleotidyltransferase, terminal, interacting protein 1	DNTTIP1	116092	ENSG00000101457			Dnttip1 (MGI:1923483)
chr20	45812644	45816952	20q13.12	20q13.12	605574	UBE2C, UBCH10	Ubiquitin-conjugating enzyme E2 C	UBE2C	11065	ENSG00000175063			Ube2c (MGI:1915862)
chr20	45823214	45833306	20q12-q13.11	20q13.12	191039	TNNC2, CMYO15	Troponin C2, fast	TNNC2	7125	ENSG00000101470		Congenital myopathy 15, 620161 (3), Autosomal dominant	Tnnc2 (MGI:98780)
chr20	45833799	45843276	20q13.12	20q13.12	619200	SNX21, SNXL	Sorting nexin family, member 21	SNX21	90203	ENSG00000124104			Snx21 (MGI:1917729)
chr20	45841721	45857392	20q13.1	20q13.12	608123	ACOT8, PTE1	Acyl-CoA thioesterase 8	ACOT8	10005	ENSG00000101473			Acot8 (MGI:2158201)
chr20	45857614	45879122	20q13.12	20q13.12	620336	ZSWIM3	Zinc finger SWIM domain-containing protein 3	ZSWIM3	140831	ENSG00000132801			Zswim3 (MGI:1914788)
chr20	45886491	45891016	20q13.12	20q13.12	618936	SPATA25, TSG23, C20orf165	Spermatogenesis-associated protein 25	SPATA25	128497	ENSG00000149634			Spata25 (MGI:1922892)
chr20	45888634	45891208	20q13.12	20q13.12	608597	NEURL2, OZZ	Neuralized E3 ubiquitin protein ligase 2	NEURL2	140825	ENSG00000124257			Neurl2 (MGI:3043305)
chr20	45891335	45898820	20q13.1	20q13.12	613111	CTSA, PPGB, GSL, NGBE, GLB2	Cathepsin A (protective protein for beta-galactosidase)	CTSA	5476	ENSG00000064601		Galactosialidosis, 256540 (3), Autosomal recessive	Ctsa (MGI:97748)
chr20	45898620	45912155	20q12-q13.1	20q13.12	172425	PLTP, HDLCQ9	Phospholipid transfer protein	PLTP	5360	ENSG00000100979			Pltp (MGI:103151)
chr20	45934683	45948020	20q13.12	20q13.12	618626	PCIF1, CAPAM, PPP1R121, C20orf67	phosphorylated C-terminal domain-interacting factor 1	PCIF1	63935	ENSG00000100982			Pcif1 (MGI:2443858)
chr20	45948660	45972203	20q11.2-q13.1	20q13.12	610827	ZNF335, NIF1, NIF2, MCPH10	Zinc finger protein 335	ZNF335	63925	ENSG00000198026		Microcephaly 10, primary, autosomal recessive, 615095 (3), Autosomal recessive	Zfp335 (MGI:2682313)
chr20	46008908	46016561	20q11.2-q13.1	20q13.12	120361	MMP9, CLG4B, MANDP2	Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase)	MMP9	4318	ENSG00000100985		Metaphyseal anadysplasia 2, 613073 (3), Autosomal recessive	Mmp9 (MGI:97011)
chr20	46021686	46060150	20q12-q13.1	20q13.12	606726	SLC12A5, KCC2, KIAA1176, DEE34, EIG14	Solute carrier family 12, (potassium-chloride transporter) member 5	SLC12A5	57468	ENSG00000124140		{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3), Autosomal dominant; Developmental and epileptic encephalopathy 34, 616645 (3), Autosomal recessive	Slc12a5 (MGI:1862037)
chr20	46060991	46089962	20q13.1	20q13.12	616825	NCOA5, CIA	Nuclear receptor coactivator 5	NCOA5	57727	ENSG00000124160			Ncoa5 (MGI:2385165)
chr20	46118314	46129858	20q12-q13.2	20q13.12	109535	CD40, TNFRSF5	CD40 antigen	CD40	958	ENSG00000101017		Immunodeficiency with hyper-IgM, type 3, 606843 (3), Autosomal recessive	Cd40 (MGI:88336)
chr20	46173739	46308498	20q13.1	20q13.12	609920	CDH22	Cadherin 22	CDH22	64405	ENSG00000149654			Cdh22 (MGI:1341843)
chr20	46345984	46364425	20q13.1	20q13.12	619530	SLC35C2, OVCOV1	Solute carrier family 35, member C2	SLC35C2	51006	ENSG00000080189			Slc35c2 (MGI:2385166)
chr20	46366050	46406615	20q13	20q13.12	606421	ELMO2, CED12, VMPI	Engulfment and cell motility gene 2	ELMO2	63916	ENSG00000062598		Vascular malformation, primary intraosseous, 606893 (3), Autosomal recessive	Elmo2 (MGI:2153045)
chr20	46462313	46513559	20q13.12	20q13.12	621017	ZNF334	Zinc finger protein 334	ZNF334	55713	ENSG00000198185			Zfp334 (MGI:2388656)
chr20	46540946	46550654	20q13.12	20q13.12	620432	OCSTAMP	Osteoclast stimulatory transmembrane protein	OCSTAMP	128506	ENSG00000149635			Ocstamp (MGI:1921864)
chr20	46557828	46684485	20q12-q13.1	20q13.12	606411	SLC13A3, NADC3, ARLIAK	Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	SLC13A3	64849	ENSG00000158296		Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, 618384 (3), Autosomal recessive	Slc13a3 (MGI:2149635)
chr20	46684365	46689444	20q13.12	20q13.12	608679	TP53RK, PRPK, GAMOS4	TP53-regulating kinase	TP53RK	112858	ENSG00000172315		Galloway-Mowat syndrome 4, 617730 (3), Autosomal recessive	Trp53rka,Trp53rkb (MGI:1914050,MGI:1918294)
chr20	46708320	46736347	20q13.1	20q13.12	606145	SLC2A10, GLUT10, ATORS	Solute carrier family 2 (facilitated glucose transporter), member 10	SLC2A10	81031	ENSG00000197496		Arterial tortuosity syndrome, 208050 (3), Autosomal recessive	Slc2a10 (MGI:2156687)
chr20	46894843	47188844	20q13.1	20q13.12	601654	EYA2	EYA transcriptional coactivator and phosphatase 2	EYA2	2139	ENSG00000064655			Eya2 (MGI:109341)
chr20	47209214	47356699	20q13.12	20q13.12	615713	ZMYND8, PRKCBP1	Zinc finger MYND domain-containing protein 8	ZMYND8	23613	ENSG00000101040			Zmynd8 (MGI:1918025)
chr20	47501887	47656872	20q12	20q13.12	601937	NCOA3, AIB1, TNRC14	Nuclear receptor coactivator 3 (amplified in breast cancer-1)	NCOA3	8202	ENSG00000124151			Ncoa3 (MGI:1276535)
chr20	47657406	47786627	20q13.12	20q13.12	610013	SULF2, KIAA1247	Sulfatase 2	SULF2	55959	ENSG00000196562			Sulf2 (MGI:1919293)
chr20	48624252	48888185	20q13.13	20q13.13	606905	PREX1, KIAA1415	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1	PREX1	57580	ENSG00000124126			Prex1 (MGI:3040696)
chr20	48921711	49036693	20q13.13	20q13.13	605371	ARFGEF2, BIG2, PVNH2	ADP-ribosylation factor guanine nucleotide-exchange factor 2, brefeldin A-inhibited	ARFGEF2	10564	ENSG00000124198		Periventricular heterotopia with microcephaly, 608097 (3), Autosomal recessive	Arfgef2 (MGI:2139354)
chr20	49046312	49096949	20q13	20q13.13	601342	CSE1L, CAS	Chromosome segregation-1, yeast, homolog of, like	CSE1L	1434	ENSG00000124207			Cse1l (MGI:1339951)
chr20	49113339	49219295	20q13.1	20q13.13	601716	STAU1, STAU	Staufen, Drosophila, homolog of, 1	STAU1	6780	ENSG00000124214			Stau1 (MGI:1338864)
chr20	49219416	49244073	20q13.13	20q13.13	616621	DDX27, RHLP	DEAD-box helicase 27	DDX27	55661	ENSG00000124228			Ddx27 (MGI:2385884)
chr20	49245900	49278057	20q13.13	20q13.13	618931	ZNFX1, IMD91	Zincfinger NFX1-type domain-containing protein 1	ZNFX1	57169	ENSG00000124201		Immunodeficiency 91 and hyperinflammation, 619644 (3), Autosomal recessive	Znfx1 (MGI:2138982)
chr20	49363877	49483362	20q13.2	20q13.13	600397	KCNB1, DEE26	Potassium voltage-gated channel, Shab-related subfamily, member 1	KCNB1	3745	ENSG00000158445		Developmental and epileptic encephalopathy 26, 616056 (3), Autosomal dominant	Kcnb1 (MGI:96666)
chr20	49503874	49568137	20q13.11-q13.13	20q13.13	601699	PTGIS, CYP8A1, PGIS, CYP8	Prostaglandin I2 synthase	PTGIS	5740	ENSG00000124212		Hypertension, essential, 145500 (3), Multifactorial	Ptgis (MGI:1097156)
chr20	49632945	49713878	20q13.1-q13.2	20q13.13	604016	B4GALT5	Beta-1,4-galactosyltransferase 5	B4GALT5	9334	ENSG00000158470	previously mapped to chr.11		B4galt5 (MGI:1927169)
chr20	49812828	49892242	20q13.13	20q13.13	612730	SLC9A8, NHE8, KIAA0939	Solute carrier family 9 (sodium/hydrogen exchanger), member 8	SLC9A8	23315	ENSG00000197818			Slc9a8 (MGI:1924281)
chr20	49903391	49915529	20q13.1-q13.2	20q13.13	607662	SPATA2, KIAA0757	Spermatogenesis-associated protein 2	SPATA2	9825	ENSG00000158480			Spata2 (MGI:2146885)
chr20	49936397	49953885	20q13	20q13.13	612451	RNF114, ZNF313	RING finger protein 114	RNF114	55905	ENSG00000124226			Rnf114 (MGI:1933159)
chr20	49982980	49988886	20q13.1	20q13.13	604238	SNAI1	Snail family transcriptional repressor 1	SNAI1	6615	ENSG00000124216	pseudogene on 2q34		Snai1 (MGI:98330)
chr20	50081124	50115957	20q13.2	20q13.13	602995	UBE2V1, UEV1	Ubiquitin-conjugating enzyme E2 V1	UBE2V1	7335	ENSG00000244687			Ube2v1 (MGI:1913839)
chr20	50118254	50153723	20q13.2	20q13.13	610994	TMEM189, KUA	Transmembrane protein 189	PEDS1	387521	ENSG00000240849			Peds1 (MGI:2142624)
chr20	50190583	50192690	20q13.1	20q13.13	189965	CEBPB, TCF5	CCAAT/enhancer-binding protein (C/EBP), beta (transcription factor-5)	CEBPB	1051	ENSG00000172216			Cebpb (MGI:88373)
chr20	50510383	50585241	20q13.1-q13.2	20q13.13	176885	PTPN1, PTP1B	Protein tyrosine phosphatase, nonreceptor-type, 1	PTPN1	5770	ENSG00000196396	20pter-q12 by REa	{Insulin resistance, susceptibility to}, 125853 (3), Autosomal dominant	Ptpn1 (MGI:97805)
chr20	50731580	50753741	20q13.13	20q13.13	608975	PARD6B	PAR6 family cell polarity regulator beta	PARD6B	84612	ENSG00000124171			Pard6b (MGI:2135605)
chr20	50794894	50882676	20q13.13	20q13.13	607471	BCAS4	Breast carcinoma amplified sequence 4	BCAS4	55653	ENSG00000124243			
chr20	50888918	50931437	20q13.13	20q13.13	611386	ADNP, ADNP1, KIAA0784, HVDAS, MRD28	Activity-dependent neuroprotector homeobox	ADNP	23394	ENSG00000101126		Helsmoortel-van der Aa syndrome, 615873 (3), Autosomal dominant	Adnp (MGI:1338758)
chr20	50934855	50958564	20q13.13	20q13.13	603503	DPM1, MPDS, CDGIE	Dolichyl-phosphate mannosyltransferase 1, catalytic subunit	DPM1	8813	ENSG00000000419		Congenital disorder of glycosylation, type Ie, 608799 (3), Autosomal recessive	Dpm1 (MGI:1330239)
chr20	50958818	50963929	20q13.13	20q13.13	609277	MOCS3	Molybdenum cofactor synthesis 3	MOCS3	27304	ENSG00000124217			Mocs3 (MGI:1916622)
chr20	51003656	51023107	20q13	20q13.13	603788	KCNG1, KH2	Potassium voltage-gated channel, subfamily G, member 1	KCNG1	3755	ENSG00000026559			Kcng1 (MGI:3616086)
chr20	51200001	64444167	20q13.2-q13.3		610248	DFNB65	Deafness, autosomal recessive 65		692219		max lod at D20S840	Deafness, autosomal recessive 65, 610248 (2), Autosomal recessive	
chr20	51200001	64444167	20q13.2-q13.3		130180	EEGV1, EEGL	Electroencephalographic variant pattern 1		1940			Electroencephalographic variant pattern 1, 130180 (2), Autosomal dominant	
chr20	51386963	51562839	20q13.2-q13.3	20q13.2	600490	NFATC2, NFATP, JCOSL	Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 2	NFATC2	4773	ENSG00000101096	mutation identified in 1 JCOSL patient	?Joint contracture, osteochondromas, and B-cell lymphoma, 620232 (3), Autosomal recessive	Nfatc2 (MGI:102463)
chr20	51596514	51768390	20q13.2	20q13.2	609126	ATP9A, KIAA0611, NEDGBA	ATPase, class II, type 9A	ATP9A	10079	ENSG00000054793		Neurodevelopmental disorder with poor growth and behavioral abnormalities, 620242 (3), Autosomal recessive	Atp9a (MGI:1330826)
chr20	51782331	51802521	20q13.13-q13.2	20q13.2	607343	SALL4, HSAL4, DRRS, IVIC	sal-like 4	SALL4	57167	ENSG00000101115	mutation identified in 1 IVIC family	?IVIC syndrome, 147750 (3), Autosomal dominant; Duane-radial ray syndrome, 607323 (3), Autosomal dominant	Sall4 (MGI:2139360)
chr20	52084011	52191779	20q13.2	20q13.2	618111	ZFP64, ZNF338	Zinc finger protein 64	ZFP64	55734	ENSG00000020256			Zfp64 (MGI:107342)
chr20	52972358	53495330	20q13.2	20q13.2	614118	TSHZ2	Teashirt zinc finger homeobox 2	TSHZ2	128553	ENSG00000182463			Tshz2 (MGI:2153084)
chr20	53567071	53597702	20q13.2	20q13.2	602967	ZNF217	Zinc finger protein-217	ZNF217	7764	ENSG00000171940			Zfp217 (MGI:2685408)
chr20	53943541	54070594	20q13.2	20q13.2	602968	BCAS1, NABC1	Brain-enriched myelin-associated protein 1	BCAS1	8537	ENSG00000064787			Bcas1 (MGI:1924210)
chr20	54143538	54173986	20q13.2-q13.3	20q13.2	126065	CYP24A1, CYP24, HCINF1	Cytochrome P450, family 24, subfamily A, polypeptide 1 (vitamin D 24-hydroxylase)	CYP24A1	1591	ENSG00000019186		Hypercalcemia, infantile, 1, 143880 (3), Autosomal recessive	Cyp24a1 (MGI:88593)
chr20	54208087	54219961	20q13.2	20q13.2	604898	PFDN4, C1	Prefoldin 4	PFDN4	5203	ENSG00000101132			Pfdn4 (MGI:1923512)
chr20	54475593	54651169	20q13.2	20q13.2	608334	DOK5	Docking protein 5	DOK5	55816	ENSG00000101134			Dok5 (MGI:1924079)
chr20	55997357	56005519	20q13.2	20q13.2	615029	CBLN4	Precerebellin 4	CBLN4	140689	ENSG00000054803			Cbln4 (MGI:2154433)
chr20	56248732	56249815	20q13.2	20q13.2	155540	MC3R, BMIQ9	Melanocortin-3 receptor	MC3R	4159	ENSG00000124089		{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3)	Mc3r (MGI:96929)
chr20	56358974	56368663	20q13.2	20q13.2	618722	FAM210B, C20orf108	Family with sequence similarity 210, member B	FAM210B	116151	ENSG00000124098			Fam210b (MGI:1914267)
chr20	56369390	56392215	20q13.2-q13.3	20q13.2	603072	AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK	Aurora kinase A	AURKA	6790	ENSG00000087586		{Colon cancer, susceptibility to}, 114500 (3), Somatic mutation, Autosomal dominant	Aurka (MGI:894678)
chr20	56392379	56406362	20q13.2	20q13.2-q13.31	600369	CSTF1	Cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD	CSTF1	1477	ENSG00000101138			Cstf1 (MGI:1914587)
chr20	56400001	64444167	20q13.31-q13.33		612929	MTBS3	Mycobacterium tuberculosis, susceptibility to, 3		100302686		associated with rs3827103	{Mycobacterium tuberculosis, susceptibility to, 3}, 612929 (2)	
chr20	56412036	56460382	20q13.31	20q13.31	618888	CASS4, HEPL, C20orf32	CAS scaffold protein family, member 4	CASS4	57091	ENSG00000087589			Cass4 (MGI:2444482)
chr20	56629306	56639283	20q13.2	20q13.31	601602	TFAP2C	Transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)	TFAP2C	7022	ENSG00000087510			Tfap2c (MGI:106032)
chr20	57168753	57266641	20q13.1-q13.3	20q13.31	112267	BMP7	Bone morphogenetic protein-7 (osteogenic protein-1)	BMP7	655	ENSG00000101144			Bmp7 (MGI:103302)
chr20	57329803	57343993	20q13.2-q13.3	20q13.31	605114	SPO11	Spo11, S. cerevisiae, homolog of	SPO11	23626	ENSG00000054796			Spo11 (MGI:1349669)
chr20	57351255	57379202	20q13.31	20q13.31	603343	RAE1, MRNP41	Ribonucleic acid export protein 1	RAE1	8480	ENSG00000101146			Rae1 (MGI:1913929)
chr20	57391396	57409333	20q13.31	20q13.31	612428	RBM38, RNPC1	RNA-binding motif protein 38	RBM38	55544	ENSG00000132819			Rbm38 (MGI:1889294)
chr20	57495965	57525652	20q13.2	20q13.31	607022	CTCFL, BORIS	CCCTC-binding factor-like protein	CTCFL	140690	ENSG00000124092			Ctcfl (MGI:3652571)
chr20	57561110	57568121	20q13.31	20q13.31	614168	PCK1, PCKDC	Phosphoenolpyruvate carboxykinase-1 (soluble)	PCK1	5105	ENSG00000124253		Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3), Autosomal recessive	Pck1 (MGI:97501)
chr20	57603852	57620426	20q13.31	20q13.31	606750	ZBP1, C20orf183, DLM1	Z-DNA binding protein 1 (tumor stroma and activated macrophage protein DLM1)	ZBP1	81030	ENSG00000124256			Zbp1 (MGI:1927449)
chr20	57648396	57711472	20q13	20q13.31	606564	PMEPA1, TMEPAI	Prostate transmembrane protein, androgen-induced	PMEPA1	56937	ENSG00000124225			Pmepa1 (MGI:1929600)
chr20	58150902	58161150	20q13.32	20q13.32	619277	CIMIP1, C20orf85, LLC1	Ciliary microtubule inner protein 1	CIMIP1	128602	ENSG00000124237			Cimip1 (MGI:1919471)
chr20	58309715	58367507	20q13.3	20q13.32	612966	RAB22A	Ras-associated protein RAB22A	RAB22A	57403	ENSG00000124209			Rab22a (MGI:105072)
chr20	58389229	58451101	20q13.3	20q13.32	605704	VAPBC, VAPB, VAPC, ALS8	VAMP-associated protein B and C	VAPB	9217	ENSG00000124164		Spinal muscular atrophy, late-onset, Finkel type, 182980 (3), Autosomal dominant; Amyotrophic lateral sclerosis 8, 608627 (3), Autosomal dominant	Vapb (MGI:1928744)
chr20	58651283	58679526	20q13.32	20q13.32	603666	STX16, SYN16	Syntaxin 16	STX16	8675	ENSG00000124222		Pseudohypoparathyroidism Ib, 603233 (3), Autosomal dominant	Stx16 (MGI:1923396)
chr20	58817615	58817694	20q13.3	20q13.32	610945	MIR296, MIRN296	Micro RNA 296	MIR296	407022	ENSG00000284040			Mir296 (MGI:3619269)
chr20	58818226	58818313	20q13.32	20q13.32	614914	MIR298	Micro RNA 298	MIR298	100126296	ENSG00000216031			Mir298 (MGI:3619321)
chr20	58818918	58850902	20q13.2	20q13.32	610540	GNASAS1, GNASAS, SANG, NESPAS	GNAS antisense RNA 1	GNAS-AS1	149775	ENSG00000235590		Pseudohypoparathyroidism Ib, 603233 (3), Autosomal dominant	Gnasas1 (MGI:1861674)
chr20	58839748	58911192	20q13.2	20q13.32	139320	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3, AIMAH1	GNAS complex locus (guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1)	GNAS	2778	ENSG00000087460		Pituitary adenoma 3, multiple types, somatic, 617686 (3); Pseudohypoparathyroidism Ic, 612462 (3), Autosomal dominant; Pseudohypoparathyroidism Ia, 103580 (3), Autosomal dominant; Osseous heteroplasia, progressive, 166350 (3), Autosomal dominant; McCune-Albright syndrome, somatic mosaic, 174800 (3); Pseudohypoparathyroidism Ib, 603233 (3), Autosomal dominant; Pseudopseudohypoparathyroidism, 612463 (3), Autosomal dominant; ACTH-independent macronodular adrenal hyperplasia 1, somatic, 219080 (3)	Gnas (MGI:95777)
chr20	58981256	58995113	20q13	20q13.32	605297	NELFCD, TH1L, TH1	Negative elongation factor complex member C/D	NELFCD	51497	ENSG00000101158			Nelfcd (MGI:1926424)
chr20	58995185	59007254	20q13	20q13.32	603169	CTSZ	Cathepsin Z	CTSZ	1522	ENSG00000101160			Ctsz (MGI:1891190)
chr20	59016438	59026654	20q13.3	20q13.32	612901	TUBB1, MACTHC1	Tubulin, beta-1	TUBB1	81027	ENSG00000101162		Macrothrombocytopenia, isolated, 1, autosomal dominant, 613112 (3), Autosomal dominant	Tubb1 (MGI:107814)
chr20	59025475	59032335	20q13.3	20q13.32	606153	ATP5F1E, ATP5E, MC5DN3	ATP synthase F1, subunit episilon	ATP5F1E	514	ENSG00000124172	pseudogene on 4q25	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3), Autosomal recessive	Atp5f1e (MGI:1855697)
chr20	59033145	59042786	20q13.32	20q13.32	620754	PRELID3B, UPS2, SLMO2	PRELI domain-containing protein 3B	PRELID3B	51012	ENSG00000101166			Prelid3b (MGI:1913640)
chr20	59300611	59325992	20q13.2-q13.3	20q13.32	131242	EDN3, WS4B, HSCR4	Endothelin-3	EDN3	1908	ENSG00000124205		Waardenburg syndrome, type 4B, 613265 (3), Autosomal recessive, Autosomal dominant; {Hirschsprung disease, susceptibility to, 4}, 613712 (3), Autosomal dominant	Edn3 (MGI:95285)
chr20	59577509	59847711	20q13.32	20q13.32-q13.33	608725	PHACTR3, SCAPININ	Phosphatase and actin regulator 3	PHACTR3	116154	ENSG00000087495			Phactr3 (MGI:1921439)
chr20	59700001	64444167	20q13.33		613031	GLM6	Glioma susceptibility 6		100415895		associated with rs6010620	{Glioma susceptibility 6}, 613031 (2)	
chr20	59863571	59933637	20q13.33	20q13.33	604105	SYCP2, SCP2, SPGF1	Synaptonemal complex protein 2	SYCP2	10388	ENSG00000196074		Spermatogenic failure 1, 258150 (3), Autosomal dominant	Sycp2 (MGI:1933281)
chr20	59936663	59940305	20q13.3	20q13.33	603326	PPP1R3D, PPP1R6	Protein phosphatase 1, regulatory subunit 3D	PPP1R3D	5509	ENSG00000132825			Ppp1r3d (MGI:1917664)
chr20	59958423	60035934	20q13.33	20q13.33	617685	CDH26	Cadherin 26	CDH26	60437	ENSG00000124215			Cdh26 (MGI:2685856)
chr20	61252261	61940617	20q13.3	20q13.33	603006	CDH4	Cadherin 4	CDH4	1002	ENSG00000179242			Cdh4 (MGI:99218)
chr20	61974798	62065881	20q13.33	20q13.33	601796	TAF4, TAF2C1, TAFII130, TAF2C, MRD73	TAF4 RNA polymerase II, TATA box-binding protein-associated factor, 135kD	TAF4	6874	ENSG00000130699		Intellectual developmental disorder, autosomal dominant 73, 620450 (3), Autosomal dominant	Taf4 (MGI:2152346)
chr20	62122475	62135374	20q13.33	20q13.33	620689	LSM14B, RAP55B	LSM family, member 14B	LSM14B	149986	ENSG00000149657			Lsm14b (MGI:3040677)
chr20	62136733	62143394	20q13.33	20q13.33	606607	PSMA7	Proteasome subunit, alpha-type, 7	PSMA7	5688	ENSG00000101182			Psma7 (MGI:1347070)
chr20	62143769	62182514	20q13.3	20q13.33	606472	SS18L1, KIAA0693, CREST	SS18L1 subunit of BAF chromatin remodeling complex	SS18L1	26039	ENSG00000184402			Ss18l1 (MGI:2444061)
chr20	62183028	62203568	20q13.33	20q13.33	610919	GTPBP5, OBGH1	GTP-binding protein 5	MTG2	26164	ENSG00000101181			Mtg2 (MGI:106565)
chr20	62214960	62220278	20q13.33	20q13.33	604525	HRH3, GPCR97	Histamine receptor H3	HRH3	11255	ENSG00000101180			Hrh3 (MGI:2139279)
chr20	62238521	62296183	20q	20q13.33	606731	OSBPL2, ORP2, KIAA0772, DNFA67	Oxysterol-binding protein-like protein 2	OSBPL2	9885	ENSG00000130703		Deafness, autosomal dominant 67, 616340 (3), Autosomal dominant	Osbpl2 (MGI:2442832)
chr20	62302896	62308862	20q13.33	20q13.33	610650	ADRM1, ARM1, RPN13	Adhesion-regulating molecule 1	ADRM1	11047	ENSG00000130706			Adrm1,Adrm1b (MGI:1929289,MGI:3642386)
chr20	62309065	62367312	20q13.2-q13.3	20q13.33	601033	LAMA5, NPHS26, BBDS2	Laminin, alpha-5	LAMA5	3911	ENSG00000130702	mutation identified in 1 BBDS2 family	Nephrotic syndrome, type 26, 620049 (3), Autosomal recessive; ?Bent bone dysplasia syndrome 2, 620076 (3), Autosomal recessive	Lama5 (MGI:105382)
chr20	62387103	62388520	20q13.3	20q13.33	180477	RPS21	Ribosomal protein S21	RPS21	6227	ENSG00000171858			Rps21 (MGI:1913731)
chr20	62388634	62407285	20q13.33	20q13.33	618772	CABLES2, C20orf150	CDK5 and ABL enzyme substrate 3	CABLES2	81928	ENSG00000149679			Cables2 (MGI:2182335)
chr20	62463497	62475995	20q13.2-q13.3	20q13.33	611496	GATA5, CHTD5	GATA-binding protein 5	GATA5	140628	ENSG00000130700		Congenital heart defects, multiple types, 5, 617912 (3), Autosomal recessive, Autosomal dominant	Gata5 (MGI:109497)
chr20	62554306	62554376	20q13.33	20q13.33	609326	MIR1-1	Micro RNA 1-1	MIR1-1	406904	ENSG00000199017			Mir1a-1 (MGI:2676869)
chr20	62564912	62565013	20q13.33	20q13.33	610255	MIR133A2	Micro RNA 133A2	MIR133A2	406923	ENSG00000284508			Mir133a-2 (MGI:3618718)
chr20	62642503	62690740	20q13.33	20q13.33	612436	SLCO4A1, OATPE, OATP4A1	Solute carrier organic anion transporter family, member 4A1	SLCO4A1	28231	ENSG00000101187			Slco4a1 (MGI:1351866)
chr20	62708836	62762771	20q13	20q13.33	162651	NTSR1	Neurotensin receptor	NTSR1	4923	ENSG00000101188			Ntsr1 (MGI:97386)
chr20	62796473	62801729	20q13.33	20q13.33	611157	MRGBP, C20orf20	MRG/MORF4L-binding protein	MRGBP	55257	ENSG00000101189			Mrgbp (MGI:1920497)
chr20	62804835	62814000	20q13.33	20q13.33	606459	OGFR	Opioid growth factor receptor	OGFR	11054	ENSG00000060491			Ogfr (MGI:1919325)
chr20	62816213	62841159	20q13.3	20q13.33	120270	COL9A3, EDM3, IDD, STL6	Collagen IX, alpha-3 polypeptide	COL9A3	1299	ENSG00000092758		{Intervertebral disc disease, susceptibility to}, 603932 (3); Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3), Autosomal dominant; Stickler syndrome, type VI, 620022 (3), Autosomal recessive	Col9a3 (MGI:894686)
chr20	62841005	62861822	20q13.33	20q13.33	604745	TCFL5	Transcription factor-like 5	TCFL5	10732	ENSG00000101190			Tcfl5 (MGI:2672878)
chr20	62877743	62937904	20q13.33	20q13.33	604140	DATF1, DIO1	Death-associated transcription factor 1	DIDO1	11083	ENSG00000101191			Dido1 (MGI:1344352)
chr20	62938147	62948475	20q13.33	20q13.33	611625	GID8, C20orf11, TWA1	GID complex, subunit 8	GID8	54994	ENSG00000101193			Gid8 (MGI:1923675)
chr20	62952709	62969585	20q13.3	20q13.33	612107	SLC17A9, C20orf59, POROK8	Solute carrier family 17, member 9	SLC17A9	63910	ENSG00000101194		Porokeratosis 8, disseminated superficial actinic type, 616063 (3), Autosomal dominant	Slc17a9 (MGI:1919107)
chr20	63005927	63006964	20q13	20q13.33	609331	BHLHE23, BHLHB4	Basic helix-loop-helix family, member E23	BHLHE23	128408	ENSG00000125533			Bhlhe23 (MGI:2153710)
chr20	63095493	63102319	20q13.33	20q13.33	610557	HAR1B, HAR1R	Highly accelerated region gene 1B	HAR1B	768097	ENSG00000231133			
chr20	63101292	63104386	20q13.33	20q13.33	610556	HAR1A, HAR1F	Highly accelerated region gene 1A	HAR1A	768096				
chr20	63195429	63216131	20q13.33	20q13.33	616529	YTHDF1	YTH N6-methyladenosine RNA-binding protein 1	YTHDF1	54915	ENSG00000149658			Ythdf1 (MGI:1917431)
chr20	63235905	63240495	20q13.3	20q13.33	605737	BIRC7, MLIAP, KIAP, LIVIN	Baculoviral IAP repeat-containing protein 7	BIRC7	79444	ENSG00000101197			Birc7 (MGI:2676458)
chr20	63240784	63254921	20q13.33	20q13.33	612873	NKAIN4	Na+/K+ transporting ATPase-interacting 4	NKAIN4	128414	ENSG00000101198			Nkain4 (MGI:1915372)
chr20	63272813	63289790	20q13.33	20q13.33	608377	ARFGAP1	ADP-ribosylation factor GTPase-activating protein 1	ARFGAP1	55738	ENSG00000101199			Arfgap1 (MGI:2183559)
chr20	63293186	63334806	20q13.33	20q13.33	619390	COL20A1, KIAA1510	Collagen, type XX, alpha-1	COL20A1	57642	ENSG00000101203			Col20a1 (MGI:1920618)
chr20	63343223	63361349	20q13.2-q13.3	20q13.33	118504	CHRNA4, ENFL1	Cholinergic receptor, nicotinic, alpha polypeptide-4	CHRNA4	1137	ENSG00000101204		{Nicotine addiction, susceptibility to}, 188890 (3); Epilepsy, nocturnal frontal lobe, 1, 600513 (3), Autosomal dominant	Chrna4 (MGI:87888)
chr20	63400208	63472655	20q13.3	20q13.33	602235	KCNQ2, EBN1, DEE7, BFNS1	Potassium voltage-gated channel, KQT-like subfamily, member 2	KCNQ2	3785	ENSG00000075043		Developmental and epileptic encephalopathy 7, 613720 (3), Autosomal dominant; Seizures, benign neonatal, 1, 121200 (3), Autosomal dominant; Myokymia, 121200 (3), Autosomal dominant	Kcnq2 (MGI:1309503)
chr20	63488014	63499083	20q13	20q13.33	602959	EEF1A2, DEE33, MRD38	Eukaryotic translation elongation factor-1, alpha-2	EEF1A2	1917	ENSG00000101210		Developmental and epileptic encephalopathy 33, 616409 (3), Autosomal dominant; Intellectual developmental disorder, autosomal dominant 38, 616393 (3), Autosomal dominant	Eef1a2 (MGI:1096317)
chr20	63528001	63537376	20q13.3	20q13.33	602004	PTK6, BRK	Protein-tyrosine kinase 6	PTK6	5753	ENSG00000101213			Ptk6 (MGI:99683)
chr20	63538489	63547749	20q13.33	20q13.33	617797	SRMS, C20orf148	Src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	SRMS	6725	ENSG00000125508			Srms (MGI:101865)
chr20	63558086	63574239	20q13.3	20q13.33	611265	PRIC285, PDIP1, KIAA1769	Peroxisomal proliferator-activated receptor alpha-interacting cofactor complex, 285kD subunit	HELZ2	85441	ENSG00000130589			Helz2 (MGI:2385169)
chr20	63587605	63627101	20q13.33	20q13.33	607451	GMEB2, KIAA1269	Glucocorticoid modulatory element-binding protein 2	GMEB2	26205	ENSG00000101216			Gmeb2 (MGI:2652836)
chr20	63639712	63653424	20q13.3	20q13.33	608362	STMN3, SCLIP	Stathmin-like 3	STMN3	50861	ENSG00000197457			Stmn3 (MGI:1277137)
chr20	63657810	63696253	20q13.3	20q13.33	608833	RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3	Regulator of telomere elongation helicase 1	RTEL1	51750	ENSG00000258366		Dyskeratosis congenita, autosomal dominant 4, 615190 (3), Autosomal recessive, Autosomal dominant; Dyskeratosis congenita, autosomal recessive 5, 615190 (3), Autosomal recessive, Autosomal dominant; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, 616373 (3), Autosomal dominant	Rtel1 (MGI:2139369)
chr20	63696652	63698684	20q13	20q13.33	603361	TNFRSF6B, DCR3	Tumor necrosis factor receptor superfamily, member 6b (decoy receptor 3)	TNFRSF6B	8771	ENSG00000243509			
chr20	63698647	63707976	20q13.33	20q13.33	604699	ARFRP1, ARP	ADP-ribosylation factor-related protein 1	ARFRP1	10139	ENSG00000101246			Arfrp1 (MGI:1923938)
chr20	63707442	63736142	20q13.3	20q13.33	619577	ZGPAT, ZIP	Zinc finger CCCH domain- and G-patch domain-containing protein	ZGPAT	84619	ENSG00000197114			Zgpat (MGI:2449939)
chr20	63735701	63739103	20q13.3	20q13.33	609809	LIME1, LIME	LCK-interacting transmembrane adaptor 1	LIME1	54923	ENSG00000203896			Lime1 (MGI:1919949)
chr20	63739776	63744050	20q13.33	20q13.33	609493	SLC2A4RG, GEF, HDBP1	SLC2A4 regulator	SLC2A4RG	56731	ENSG00000125520			
chr20	63743670	63833895	20q13.33	20q13.33	614639	ZBTB46, BZEL	Zinc finger- and BTB domain-containing protein 46	ZBTB46	140685	ENSG00000130584			Zbtb46 (MGI:1919397)
chr20	63861498	63862988	20q13.33	20q13.33	620190	ABHD16B, C20orf135	Abhydrolase domain-containing protein 16B	ABHD16B	140701	ENSG00000183260			Abhd16b (MGI:3607711)
chr20	63865270	63891538	20q13.2-q13.3	20q13.33	603747	TPD52L2	Tumor protein D52-like 2	TPD52L2	7165	ENSG00000101150			Tpd52l2 (MGI:1913564)
chr20	63895126	63936011	20q13.33	20q13.33	611203	DNAJC5, DNAJC5A, CSP, CLN4	DNAJ/HSP40 homolog, subfamily C, member 5	DNAJC5	80331	ENSG00000101152		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant, 162350 (3), Autosomal dominant	Dnajc5 (MGI:892995)
chr20	63939829	63956416	20q13.33	20q13.33	610866	UCKL1, UCK1L, URKL1	Uridine/cytidine kinase-like 1	UCKL1	54963	ENSG00000198276			Uckl1 (MGI:1915806)
chr20	63956704	63969930	20q13.33	20q13.33	617886	ZNF512B, KIAA1196	Zinc finger protein 512B	ZNF512B	57473	ENSG00000196700			Zfp512b (MGI:2685478)
chr20	63981132	64033100	20q13.33	20q13.33	613979	PRPF6, PRP6, ANT1, TOM, C20orf14	Pre-mRNA processing factor 6	PRPF6	24148	ENSG00000101161		Retinitis pigmentosa 60, 613983 (3), Autosomal dominant	Prpf6 (MGI:1922946)
chr20	64047582	64049639	20q13.33	20q13.33	601618	SOX18, HLTS, HLTRS	SOX18, mouse, homolog of	SOX18	54345	ENSG00000203883		Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3), Autosomal recessive; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3), Autosomal dominant	Sox18 (MGI:103559)
chr20	64055596	64072347	20q13.33	20q13.33	604784	TCEA2	Transcription elongation factor A2	TCEA2	6919	ENSG00000171703			Tcea2 (MGI:107368)
chr20	64073181	64079964	20q13.3	20q13.33	605071	RGS19, GAIP	Regulator of G protein signaling 19	RGS19	10287	ENSG00000171700			Rgs19 (MGI:1915153)
chr20	64080082	64100643	20q13.33	20q13.33	602548	OPRL1, NOP	Opioid receptor-like 1	OPRL1	4987	ENSG00000125510			Oprl1 (MGI:97440)
chr20	64103802	64107565	20q13.3	20q13.33	600731	GPR8	G protein-coupled receptor-8	NPBWR2	2832	ENSG00000125522	related sequence on 14		
chr20	64164452	64242253	20q13.3	20q13.33	600379	MYT1, PLPB1	Myelin transcription factor 1	MYT1	4661	ENSG00000196132			Myt1 (MGI:1100535)
chr20	64255748	64276226	20q13.33	20q13.33	620077	PCMTD2, C20orf36	Protein-L-isoaspartate (D-aspartate) O-methyltransferase domain-containing protein 2	PCMTD2	55251	ENSG00000203880			Pcmtd2 (MGI:1923927)
chr20	1	64444167	Chr.20		151310	HTL, LEUT, HLT	Leucine transport, high		3343				
chr21	1	15000000	21p13-q11		610838	AUTS12	Autism, susceptibility to, 12		100188314		max lod at D21S1437	{Autism susceptibility 12}, 610838 (2)	
chr21	3100001	7000000	21p12		180453	RNR4	Ribosomal RNA-4		6055				
chr21	7000001	10900000	21p11.2		605167	BAGE1, BAGE	BAGE family, member 1	BAGE	574		previously assigned to chr.13		
chr21	7000001	10900000	21p11.2		617777	BAGE3	BAGE family, member 3	BAGE3	85318				
chr21	10413497	10518274	21p11.2	21p11.2	617776	BAGE2	BAGE family, member 2	BAGE2	85319				
chr21	10521583	10605716	21p11.2	21p11.2	604336	TPTE	Transmembrane phosphatase with tensin homology	TPTE	7179	ENSG00000274391			Tpte (MGI:2446460)
chr21	13000001	15000000	21q11.2		609039	NRCLP3	Narcolepsy 3		494446		max lod at D21S1245	Narcolepsy 3, 609039 (2), Autosomal dominant	
chr21	13000001	15000000	21q11.2		159595	TAM, MST	Myeloproliferative syndrome, transient (transient abnormal myelopoiesis)		8205			Leukemia, transient, of Down syndrome, 159595 (2)	
chr21	13609777	13645823	21q11.2	21q11.2	607549	POTED, ANKRD21, POTE	POTE ankyrin domain family, member D	POTED	317754	ENSG00000166351			Ankrd68,Potefam1,Potefam2 (MGI:1914825,MGI:1918231,MGI:3644757)
chr21	14108812	14210955	21q11.2	21q11.2	609252	LIPI, LPDL, PRED5	Lipase I	LIPI	149998	ENSG00000188992			Lipi (MGI:2443868)
chr21	14216157	14228372	21q11.2	21q11.2	617937	RBM11	RNA-binding motif protein 11	RBM11	54033	ENSG00000185272			Rbm11 (MGI:2447622)
chr21	14273799	14301386	21q11.2	21q11.2	608835	ABCC13	ATP-binding cassette, subfamily C, member 13	ABCC13	150000	ENSG00000291052			
chr21	14371115	14383146	21q11.1	21q11.2	601100	STCH	Stress 70 protein chaperone, microsome-associated, p60	HSPA13	6782	ENSG00000155304			Hspa13 (MGI:1309463)
chr21	14485228	14659417	21q11.2	21q11.2	607978	SAMSN1, HACS1	SAM domain, SH3 domain, and nuclear localization signals 1	SAMSN1	64092	ENSG00000155307			Samsn1 (MGI:1914992)
chr21	14961235	15065936	21q11	21q11.2-q21.1	602490	NRIP1, RIP140, CAKUT3	Nuclear receptor interacting protein 1 (receptor interacting protein 140)	NRIP1	8204	ENSG00000180530	mutation identified in 1 CAKUT3 family	?Congenital anomalies of kidney and urinary tract 3, 618270 (3), Autosomal dominant	Nrip1 (MGI:1315213)
chr21	15000001	30200000	21q21		602097	USH1E	Usher syndrome-1E, autosomal recessive, severe		7396			Usher syndrome, type 1E, 602097 (2), Autosomal recessive	
chr21	15729982	15880064	21q11.2	21q21.1	604736	USP25, USP21, EIG19	Ubiquitin-specific protease 25	USP25	29761	ENSG00000155313		{Epilepsy, idiopathic generalized, susceptibility to, 19}, 621064 (3), Autosomal dominant	Usp25 (MGI:1353655)
chr21	16070488	16631727	21q21.1	21q21.1	615964	MIR99AHG, MONC, LINC00478	MIR99A-LET7C cluster host gene, noncoding	MIR99AHG	388815	ENSG00000215386			
chr21	16539089	16539169	21q21.1	21q21.1	614509	MIR99A	Micro RNA 99A	MIR99A	407055	ENSG00000207638			Mir99a (MGI:2676912)
chr21	16539828	16539911	21q21.1	21q21.1	612144	MIRLET7C, MIRNLET7C, LET7C	Micro RNA Let7c	MIRLET7C	406885	ENSG00000199030			Mirlet7c-1 (MGI:2676795)
chr21	16590237	16590325	21q21.1	21q21.1	610105	MIR125B2, MIRN125B2	Micro RNA 125B-2	MIR125B2	406912	ENSG00000207863			Mir125b-2 (MGI:3618706)
chr21	17513043	17636262	21q11.2	21q21.1	602621	CXADR, CAR	Coxsackie virus and adenovirus receptor	CXADR	1525	ENSG00000154639	pseudogenes on chr.15 and chr.18		Cxadr (MGI:1201679)
chr21	17593653	17612901	21q11.2-q21.1	21q21.1	605674	BTG3, ANA, TOB5	BTG antiproliferation factor 3	BTG3	10950	ENSG00000154640			Btg3 (MGI:109532)
chr21	17917340	18267370	21q21	21q21.1	607247	CHODL	Chondrolectin	CHODL	140578	ENSG00000154645			Chodl (MGI:2179069)
chr21	18269116	18485884	21q21	21q21.1	606635	TMPRSS15, PRSS7, ENTK	Transmembrane protease, serine 15	TMPRSS15	5651	ENSG00000154646		Enterokinase deficiency, 226200 (3), Autosomal recessive	Tmprss15 (MGI:1197523)
chr21	20998409	21543329	21q21	21q21.1	602040	NCAM2	Cell adhesion molecule, neural, 2	NCAM2	4685	ENSG00000154654			Ncam2 (MGI:97282)
chr21	25573980	25574044	21q21.3	21q21.3	609337	MIR155, BIC, MIRN155	Micro RNA 155	MIR155	406947	ENSG00000283904			Mir155 (MGI:2676840)
chr21	25585656	25607859	21q11.2-q21	21q21.3	611845	MRPL39, MRPL5, COXPD59	Mitochondrial ribosomal protein L39	MRPL39	54148	ENSG00000154719		Combined oxidative phosphorylation deficiency 59, 620646 (3), Autosomal recessive	Mrpl39 (MGI:1351620)
chr21	25639258	25717562	21q21.2	21q21.3	606870	JAM2, VEJAM, IBGC8	Junctional adhesion molecule 2	JAM2	58494	ENSG00000154721		Basal ganglia calcification, idiopathic, 8, autosomal recessive, 618824 (3), Autosomal recessive	Jam2 (MGI:1933820)
chr21	25724500	25735653	21q21.3	21q21.3	603152	ATP5PF, ATP5J, ATP5	ATP synthase peripheral stalk, subunit F6	ATP5PF	522	ENSG00000154723			Atp5pf (MGI:107777)
chr21	25734972	25772460	21q21-q22.1	21q21.3	600609	GABPA, E4TF1A	GA-binding protein transcription factor, alpha subunit, 60kD	GABPA	2551	ENSG00000154727			Gabpa (MGI:95610)
chr21	25880550	26171128	21q21	21q21.3	104760	APP, AAA, CVAP, AD1	Amyloid beta (A4) precursor protein	APP	351	ENSG00000142192	proximal to SOD; very distal q21 or boundary with q22	Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3), Autosomal dominant; Alzheimer disease 1, familial, 104300 (3), Autosomal dominant	App (MGI:88059)
chr21	26393635	26569252	21q21.3	21q21.3	616021	CYYR1AS1, CYYR1-AS1	CYRR1 antisense RNA 1	CYYR1-AS1	100996571	ENSG00000197934			
chr21	26466216	26573286	21q21.3	21q21.3	616020	CYYR1	Cysteine/tyrosine-rich protein 1	CYYR1	116159	ENSG00000166265			Cyyr1 (MGI:2152187)
chr21	26835755	26845409	21q21.2	21q21.3	605174	ADAMTS1, METH1	ADAM metallopeptidase domain with thrombospondin type 1 motif, 1	ADAMTS1	9510	ENSG00000154734			Adamts1 (MGI:109249)
chr21	26917922	26967088	21q21-q22	21q21.3	605007	ADAMTS5, ADAMTS11	ADAM metallopeptidase domain with thrombospondin type 1 motif, 5 (aggrecanase 2)	ADAMTS5	11096	ENSG00000154736			Adamts5 (MGI:1346321)
chr21	28575598	28885367	21q21.3	21q21.3	614553	N6AMT1	N6 adenine-specific DNA methyltransferase 1	HEMK2	29104	ENSG00000156239			N6amt1 (MGI:1915018)
chr21	28928144	28992877	21q22.11	21q21.3	613083	LTN1, RNF160, KIAA0714	Listerin E3 ubiquitin protein ligase 1	LTN1	26046	ENSG00000198862			Ltn1 (MGI:1926163)
chr21	29004384	29019349	21q22.1	21q21.3	617843	RWDD2B, C21orf6	RWD domain-containing protein 2B	RWDD2B	10069	ENSG00000156253			Rwdd2b (MGI:1858215)
chr21	29024668	29054488	21q21.3	21q21.3	604735	USP16, UBPM	Ubiquitin-specific protease 16	USP16	10600	ENSG00000156256			Usp16 (MGI:1921362)
chr21	29056326	29073648	21q21.3	21q21.3	617786	CCT8, KIAA0002	Chaperonin containing T-complex polypeptide 1, subunit 8	CCT8	10694	ENSG00000156261			Cct8 (MGI:107183)
chr21	29077114	29175887	21q21	21q21.3	611110	TAK1L, C21orf7	TAK1-like	MAP3K7CL	56911	ENSG00000156265			Map3k7cl (MGI:2446584)
chr21	29298922	29361894	21q22.1	21q21.3	602751	BACH1	BTB and CNC homology 1	BACH1	571	ENSG00000156273			Bach1 (MGI:894680)
chr21	29536933	29939996	21q22	21q21.3	138245	GRIK1, GLUR5	Glutamate receptor, ionotropic, kainate 1	GRIK1	2897	ENSG00000171189			Grik1 (MGI:95814)
chr21	30165565	30166805	21q21.3	21q21.3	617005	CLDN17	Claudin 17	CLDN17	26285	ENSG00000156282			Cldn17 (MGI:2652030)
chr21	30200001	46709983	21q22		619980	BRDCS1, DEL21q22, C21DELq22	Braddock-Carey syndrome 1				7.7 - 9.2 Mb deletion	Braddock-Carey syndrome 1, 619980 (4), Autosomal dominant	
chr21	30200001	46709983	21q22		611515	FEB7	Febrile seizures, familial, 7		100049160		max lod at D21S1910	Febrile seizures, familial, 7, 611515 (2)	
chr21	30200001	46709983	21q22		609428	TUKLS	Tukel syndrome		574049		max lod at D21S1259	Tukel syndrome, 609428 (2), Autosomal recessive	
chr21	30214006	30216097	21q22.11	21q22.11	611231	CLDN8	Claudin 8	CLDN8	9073	ENSG00000156284			Cldn8 (MGI:1859286)
chr21	30281309	30282950	21q22.1	21q22.11	618927	KRTAP24-1	Keratin-associated protein 24-1	KRTAP24-1	643803	ENSG00000188694			Krtap24-1 (MGI:2685158)
chr21	30396031	30396822	21q22.11	21q22.11	608718	KRTAP13-1	Keratin-associated protein 13-1	KRTAP13-1	140258	ENSG00000198390			Krtap13,Krtap13-1 (MGI:1330835,MGI:2146359)
chr21	30880644	30881580	21q22.11	21q22.11	600064	KRTAP11-1, HACL1	Keratin-associated protein 11-1	KRTAP11-1	337880	ENSG00000182591			Krtap11-1 (MGI:99447)
chr21	31118418	31559087	21q22.1	21q22.11	600687	TIAM1, NEDLDS	T-cell lymphoma invasion and metastasis 1	TIAM1	7074	ENSG00000156299		Neurodevelopmental disorder with language delay and seizures, 619908 (3), Autosomal recessive	Tiam1 (MGI:103306)
chr21	31659693	31668931	21q22.1	21q22.11	147450	SOD1, ALS1, STAHP	Superoxide dismutase-1, soluble	SOD1	6647	ENSG00000142168	mid q22.1	Spastic tetraplegia and axial hypotonia, progressive, 618598 (3), Autosomal recessive; Amyotrophic lateral sclerosis 1, 105400 (3), Autosomal recessive, Autosomal dominant	Sod1 (MGI:98351)
chr21	31671000	31732118	21q22.11	21q22.11	616023	SCAF4, KIAA1172, FZS	SR-related C-terminal domain-associated factor 4	SCAF4	57466	ENSG00000156304		Fliedner-Zweier syndrome, 620511 (3), Autosomal dominant	Scaf4 (MGI:2146350)
chr21	31873020	32004064	21q22	21q22.11	606532	HUNK	Hormonally upregulated NEU-associated kinase	HUNK	30811	ENSG00000142149			Hunk (MGI:1347352)
chr21	32154682	32279049	21q22.11	21q22.11	618137	MIS18A	Mis18 kinetochore protein A	MIS18A	54069	ENSG00000159055			Mis18a (MGI:1913828)
chr21	32291813	32314784	21q22.1	21q22.11	609196	MRAP, FALP, C21orf61, GCCD2, FGD2	Melanocortin 2 receptor accessory protein	MRAP	56246	ENSG00000170262		Glucocorticoid deficiency 2, 607398 (3), Autosomal recessive	Mrap (MGI:1924287)
chr21	32311018	32393012	21q22.1	21q22.11	608865	URB1, NPA1, C21orf108, KIAA0539	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	URB1	9875	ENSG00000142207			Urb1 (MGI:2146468)
chr21	32573721	32585523	21q22.1	21q22.11	608365	TCP10L	T-complex protein 10-like	TCP10L	140290	ENSG00000242220			Tcp10a,Tcp10b,Tcp10c (MGI:98541,MGI:98542,MGI:98543)
chr21	32599354	32612377	21q22.11	21q22.11	615494	CFAP298, C21orf59, CILD26	Cilia- and flagella-associated protein 298	CFAP298	56683	ENSG00000159079		Ciliary dyskinesia, primary, 26, 615500 (3), Autosomal recessive	Cfap298 (MGI:1915251)
chr21	32628759	32728394	21q22.2	21q22.11	604297	SYNJ1, PARK20, DEE53	Synaptojanin 1	SYNJ1	8867	ENSG00000159082		Parkinson disease 20, early-onset, 615530 (3), Autosomal recessive; Developmental and epileptic encephalopathy 53, 617389 (3), Autosomal recessive	Synj1 (MGI:1354961)
chr21	32733899	32771755	21q22.11	21q22.11	617621	PAXBP1, GCFC1, C21orf66	PAX3- and PAX7-binding protein 1	PAXBP1	94104	ENSG00000159086			Paxbp1 (MGI:1914617)
chr21	33025935	33029185	21q22.11	21q22.11	606386	OLIG2, PRKCBP2	Oligodendrocyte lineage transcription factor 2	OLIG2	10215	ENSG00000205927			Olig2 (MGI:1355331)
chr21	33070141	33072413	21q22.11	21q22.11	606385	OLIG1	Oligodendrocyte lineage transcription factor 1	OLIG1	116448	ENSG00000184221			Olig1 (MGI:1355334)
chr21	33229938	33265664	21q22.1	21q22.11	602376	IFNAR2, IMD45	Interferon, alpha, beta, and omega, receptor 2	IFNAR2	3455	ENSG00000159110		{Hepatitis B virus, susceptibility to}, 610424 (3); Immunodeficiency 45, 616669 (3), Autosomal recessive	Ifnar2 (MGI:1098243)
chr21	33266367	33310182	21q22.1	21q22.11	123889	IL10RB, CRFB4, IBD25	Interleukin 10 receptor, beta	IL10RB	3588	ENSG00000243646	35kb distal to IFNAR; D21S58	{Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3), Autosomal recessive	Il10rb (MGI:109380)
chr21	33324395	33359864	21q22.1	21q22.11	107450	IFNAR1, IMD106	Interferon, alpha, beta and omega, receptor 1	IFNAR1	3454	ENSG00000142166		Immunodeficiency 106, susceptibility to viral infections, 619935 (3), Autosomal recessive	Ifnar1 (MGI:107658)
chr21	33402882	33437516	21q22.1-q22.2	21q22.11	147569	IFNGR2, IFNGT1, IFGR2, IMD28	Interferon gamma receptor-2 (interferon gamma transducer 1)	IFNGR2	3460	ENSG00000159128		Immunodeficiency 28, mycobacteriosis, 614889 (3), Autosomal recessive	Ifngr2 (MGI:107654)
chr21	33432486	33479974	21q22.11	21q22.11	617894	TMEM50B, C21orf4	Transmembrane protein 50B	TMEM50B	757	ENSG00000142188			Tmem50b (MGI:1925225)
chr21	33503931	33542893	21q22.1	21q22.11	138440	GART, PRGS, PGFT	Phosphoribosylglycinamide formyltransferase (phosphoribosylglycinamide synthetase; phosphoribosylaminoimidazole synthetase)	GART	2618	ENSG00000159131	multifunctional protein: Ade(-)C, Ade(-)G, GART		Gart (MGI:95654)
chr21	33543038	33577481	21q22.1-q22.2	21q22.11	182465	SON, TOKIMS	SON DNA-binding protein	SON	6651	ENSG00000159140		ZTTK syndrome, 617140 (3), Autosomal dominant	Son (MGI:98353)
chr21	33577551	33588684	21q22.1	21q22.11	611428	DONSON, C21orf60, MISSLA, MIMIS	Downstream neighbor of SON	DONSON	29980	ENSG00000159147		Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive; Microcephaly-micromelia syndrome, 251230 (3), Autosomal recessive	Donson (MGI:1890621)
chr21	33589341	33641741	21q22.1	21q22.11	603920	CRYZL1	Crystallin, zeta-like 1	CRYZL1	9946	ENSG00000205758			Cryzl1 (MGI:1913859)
chr21	33642501	33899861	21q22.1-q22.2	21q22.11	602442	ITSN1, SH3D1A, SH3P17	Intersectin 1 (SH3 domain protein-1A)	ITSN1	6453	ENSG00000205726			Itsn1 (MGI:1338069)
chr21	33903453	33915804	21q22.1-q22.2	21q22.11	600828	ATP5PO, ATP5O, MC5DN7	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein)	ATP5PO	539	ENSG00000241837		Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, 620359 (3), Autosomal recessive	Atp5po (MGI:106341)
chr21	34073578	34143030	21q21.3-q22.1	21q22.11	611973	MRPS6	Mitochondrial ribosomal protein S6	MRPS6	64968	ENSG00000243927			Mrps6 (MGI:2153111)
chr21	34073578	34106260	21q22	21q22.11	600444	SLC5A3	Solute carrier family 5 (inositol transporter), member 3	SLC5A3	6526	ENSG00000198743	?role in Down syndrome		Slc5a3 (MGI:1858226)
chr21	34364006	34371381	21q22.1	21q22.11	603796	KCNE2, MIRP1, LQT6, ATFB4	Potassium voltage-gated channel, Isk-related family, member 2	KCNE2	9992	ENSG00000159197		Long QT syndrome 6, 613693 (3), Autosomal dominant; Atrial fibrillation, familial, 4, 611493 (3)	Kcne2 (MGI:1891123)
chr21	34446688	34512210	21q22.1-q22.2	21q22.12	176261	KCNE1, JLNS, LQT5, JLNS2	Potassium voltage-gated channel, Isk-related subfamily, member 1	KCNE1	3753	ENSG00000180509		Jervell and Lange-Nielsen syndrome 2, 612347 (3), Autosomal recessive; Long QT syndrome 5, 613695 (3), Autosomal dominant	Kcne1 (MGI:96673)
chr21	34516442	34615113	21q22.1-q22.2	21q22.12	602917	RCAN1, DSCR1, MCIP1, CSP1	Regulator of calcineurin 1	RCAN1	1827	ENSG00000159200			Rcan1 (MGI:1890564)
chr21	34668994	34718223	21q22.12	21q22.12	615321	CLIC6, CLIC1L	Chloride intracellular channel 6	CLIC6	54102	ENSG00000159212			Clic6 (MGI:2146607)
chr21	34787801	35049302	21q22.3	21q22.12	151385	RUNX1, CBFA2, AML1	Runt-related transcription factor 1 (aml1 oncogene)	RUNX1	861	ENSG00000159216		Platelet disorder, familial, with associated myeloid malignancy, 601399 (3), Autosomal dominant; Leukemia, acute myeloid, 601626 (3), Somatic mutation, Autosomal dominant	Runx1 (MGI:99852)
chr21	35720715	35720808	21q22.12	21q22.12	616090	MIR802	Micro RNA 802	MIR802	768219	ENSG00000211590			Mir802 (MGI:3691608)
chr21	36034541	36060526	21q22.13	21q22.12	620995	SETD4	SET domain-containing protein 4	SETD4	54093	ENSG00000185917			Setd4 (MGI:2136890)
chr21	36070024	36073164	21q22.12	21q22.12	114830	CBR1	Carbonyl reductase 1	CBR1	873	ENSG00000159228			Cbr1,Cbr1b (MGI:3646098,MGI:88284)
chr21	36135079	36146562	21q22.2	21q22.12	603608	CBR3	Carbonyl reductase 3	CBR3	874	ENSG00000159231			Cbr3 (MGI:1309992)
chr21	36156824	36294274	21q22.2	21q22.12	604803	DOP1B, DOPEY2, 21orf5, KIAA0933	DOP1 leucine zipper-like protein B	DOP1B	9980	ENSG00000142197			Dop1b (MGI:1917278)
chr21	36320197	36376632	21q22.12	21q22.12	610078	MORC3, NXP2	MORC family CW-type zinc finger 3	MORC3	23515	ENSG00000159256			Morc3 (MGI:2136841)
chr21	36385392	36419015	21q22.2	21q22.12-q22.13	601245	CAF1A	Chromatin assembly factor I, p60 subunit	CHAF1B	8208	ENSG00000159259			Chaf1b (MGI:1314881)
chr21	36400001	46709983	21q22.13-qter		609876	BMND6	Bone mineral density QTL 6		100188797		max lod at D21S1446	[Bone mineral density QTL 6], 609876 (2)	
chr21	36400001	38300000	21q22.13		609633	MAFD3, BPEO	Major affective disorder 3		100188792		max lod at D21S1252	{Major affective disorder 3, early onset}, 609633 (2)	
chr21	36460621	36576569	21q22.3	21q22.13	605608	CLDN14, DFNB29	Claudin 14	CLDN14	23562	ENSG00000159261		Deafness, autosomal recessive 29, 614035 (3), Autosomal recessive	Cldn14 (MGI:1860425)
chr21	36699115	36749917	21q22.2	21q22.13	600892	SIM2	Single-minded, Drosophila, homolog of, 2	SIM2	6493	ENSG00000159263			Sim2 (MGI:98307)
chr21	36748625	36990211	21q22.1	21q22.13	609018	HLCS, HCS	Holocarboxylase synthetase	HLCS	3141	ENSG00000159267		Holocarboxylase synthetase deficiency, 253270 (3), Autosomal recessive	Hlcs (MGI:894646)
chr21	37006150	37019662	21q22.2	21q22.13	609892	RIPPLY3, DSCR6	Ripply transcriptional repressor 3	RIPPLY3	53820	ENSG00000183145			Ripply3 (MGI:2181192)
chr21	37065364	37073071	21q22.1-q22.2	21q22.13	605938	PIGP, DSCR5, DEE55	Phosphatidylinositol glycan, class P	PIGP	51227	ENSG00000185808		Developmental and epileptic encephalopathy 55, 617599 (3), Autosomal recessive	Pigp (MGI:1860433)
chr21	37073254	37203118	21q22.2	21q22.13	602259	TTC3, TPRD	Tetratricopeptide repeat domain 3	TTC3	7267	ENSG00000182670			Ttc3 (MGI:1276539)
chr21	37223420	37268108	21q22.2	21q22.13	605298	VPS26C, DSCR3, DSCRA	VPS26 endosomal protein sorting factor C	VPS26C	10311	ENSG00000157538			Vps26c (MGI:1206040)
chr21	37365573	37526358	21q22.1	21q22.13	600855	DYRK1A, MNBH, MNB, MRD7	Dual specificity tyrosine phosphorylation regulated kinase-1A	DYRK1A	1859	ENSG00000157540	?triplicate state responsible for mental defect in Down syndrome	Intellectual developmental disorder, autosomal dominant 7, 614104 (3), Autosomal dominant	Dyrk1a (MGI:1330299)
chr21	37607373	37916457	21q22.1	21q22.13	600877	KCNJ6, GIRK2, KCNJ7, KPLBS	Potassium inwardly-rectifying channel, subfamily J, member 6	KCNJ6	3763	ENSG00000157542		Keppen-Lubinsky syndrome, 614098 (3), Autosomal dominant	Kcnj6 (MGI:104781)
chr21	38054011	38121360	21q22.2	21q22.13	604829	DSCR4, DSCRB	Down syndrome critical region gene 4	DSCR4	10281	ENSG00000184029			
chr21	38121451	38156511	21q22.2	21q22.13	613396	DSCR8, MMA1	Down syndrome critical region gene 8	DSCR8	84677	ENSG00000198054			
chr21	38229926	38307357	21q22.2	21q22.13-q22.2	602106	KCNJ15	Potassium inwardly-rectifying channel, subfamily J, member 15	KCNJ15	3772	ENSG00000157551			Kcnj15 (MGI:1310000)
chr21	38367261	38661783	21q22.3	21q22.2	165080	ERG, LMPHM14	ETS transcription factor ERG	ERG	2078	ENSG00000157554	fused with EWS in Ewing sarcoma, with FUS in leukemia	Lymphatic malformation 14, 620602 (3), Autosomal dominant	Erg (MGI:95415)
chr21	38739021	38773477	21q22.2-q22.3	21q22.2	611723	C21orf24	Chromosome 21 open reading frame 24	LINC00114	400866	ENSG00000223806			
chr21	38805183	38824955	21q22.3	21q22.2	164740	ETS2	ETS protooncogene 2, transcription factor	ETS2	2114	ENSG00000157557	proximal q22.3		Ets2 (MGI:95456)
chr21	39174769	39183514	21q22.3	21q22.2	605296	PSMG1, DSCR2, C21LRP	Proteasome (prosome, macropain) assembly chaperone 1	PSMG1	8624	ENSG00000183527			Psmg1 (MGI:1860263)
chr21	39184176	39321212	21q22.2-q22.3	21q22.2	617824	BRWD1, WRD9, C21orf107, CILD51	Bromodomain and WD repeat domain-containing protein 1	BRWD1	54014	ENSG00000185658		Ciliary dyskinesia, primary, 51, 620438 (3), Autosomal recessive	Brwd1 (MGI:1890651)
chr21	39342315	39349088	21q22.3	21q22.2	163920	HMGN1, HMG14	High-mobility group nucleosomal binding protein 1	HMGN1	3150	ENSG00000205581			Hmgn1 (MGI:96120)
chr21	39380326	39428528	21q22.3	21q22.2	602915	GET1, WRB, CHD5	Guided entry of tail-anchored proteins factor 1	GET1	7485	ENSG00000182093			Get1 (MGI:2136882)
chr21	39445865	39515506	21q22.3	21q22.2	602230	SH3GBR	SH3 domain binding glutamic acid-rich protein	SH3BGR	6450	ENSG00000185437			Sh3bgr (MGI:1354740)
chr21	39612940	39673137	21q22.3	21q22.2	604066	B3GALT5, GLCT5	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5	B3GALT5	10317	ENSG00000183778			B3galt5 (MGI:2136878)
chr21	39711771	39802081	21q22.2	21q22.2	610638	IGSF5, JAM4	Immunoglobulin superfamily, member 5	IGSF5	150084	ENSG00000183067			Igsf5 (MGI:1919308)
chr21	39867438	39929392	21q22.3	21q22.2	601629	PCP4	Purkinje cell protein 4	PCP4	5121	ENSG00000183036			Pcp4 (MGI:97509)
chr21	40010999	40847158	21q22.2	21q22.2	602523	DSCAM	DS cell adhesion molecule	DSCAM	1826	ENSG00000171587			Dscam (MGI:1196281)
chr21	41168160	41282530	21q22.3	21q22.2-q22.3	605668	BACE2, ALP56, DRAP	Beta-site amyloid beta A4 precursor protein-cleaving enzyme 2 (Down syndrome region aspartic protease)	BACE2	25825	ENSG00000182240			Bace2 (MGI:1860440)
chr21	41175231	41185239	21q22.3	21q22.2	613770	PLAC4	Placenta-specific gene 4	PLAC4	191585				
chr21	41200001	46709983	21q22.3		190685	DCR, DSCR	Down syndrome chromosome region				many genes are involved in this phenotype	Down syndrome, 190685 (4), Isolated cases	
chr21	41200001	46709983	21q22.3		236100	HPE1	Holoprosencephaly-1, alobar		3244			Holoprosencephaly 1, 236100 (2), Autosomal dominant, Isolated cases	
chr21	41304242	41357727	21q22	21q22.3	608617	FAM3B	Family with sequence similarity 3, member B	FAM3B	54097	ENSG00000183844			Fam3b (MGI:1270150)
chr21	41362027	41409393	21q22.3	21q22.3	147890	MX2	MX dynamin-like GTPase 2	MX2	4600	ENSG00000183486			Mx1,Mx2 (MGI:97243,MGI:97244)
chr21	41420558	41459214	21q22.3	21q22.3	147150	MX1, MX, IFI78	MX dynamin-like GTPase 1	MX1	4599	ENSG00000157601			Mx1,Mx2 (MGI:97243,MGI:97244)
chr21	41464305	41508158	21q22.3	21q22.3	602060	TMPRSS2	Transmembrane protease, serine 2	TMPRSS2	7113	ENSG00000184012			Tmprss2 (MGI:1354381)
chr21	41739373	41767052	21q22.3	21q22.3	605706	RIPK4, NKRD3, DIK, PPS2, CHANDS	Receptor-interacting serine-threonine kinase 4	RIPK4	54101	ENSG00000183421		CHAND syndrome, 214350 (3), Autosomal recessive; Popliteal pterygium syndrome, Bartsocas-Papas type 1, 263650 (3), Autosomal recessive	Ripk4 (MGI:1919638)
chr21	41798225	41879344	21q22.3	21q22.3	617692	PRDM15, ZNF298	PR domain-containing protein 15	PRDM15	63977	ENSG00000141956			Prdm15 (MGI:1930121)
chr21	41885112	41954018	21q22.3	21q22.3	617581	C2CD2, TMEM24L, C21orf25	C2 calcium-dependent domain-containing protein 2	C2CD2	25966	ENSG00000157617			C2cd2 (MGI:1891883)
chr21	41986831	42010360	21q22.3	21q22.3	616485	ZBTB21, ZNF295, KIAA1227	Zinc finger- and BTB domain-containing protein 21	ZBTB21	49854	ENSG00000173276			Zbtb21 (MGI:1927240)
chr21	42062877	42142996	21q22.3	21q22.3	613859	UMODL1	Uromodulin-like 1	UMODL1	89766	ENSG00000177398			Umodl1 (MGI:1929785)
chr21	42199689	42297244	21q22.3	21q22.3	603076	ABCG1, ABC8, WHITE1	ATP-binding cassette, subfamily G, member 1 (white, Drosophila, homolog of)	ABCG1	9619	ENSG00000160179			Abcg1 (MGI:107704)
chr21	42311667	42315409	21q22.3	21q22.3	600633	TFF3, ITF	Trefoil factor 3 (intestinal)	TFF3	7033	ENSG00000160180			Tff3 (MGI:104638)
chr21	42346357	42350994	21q22.3	21q22.3	182590	TFF2, SML1	Trefoil factor 2 (spasmolytic protein-1)	TFF2	7032	ENSG00000160181	within 230kb of BCEI		Tff2 (MGI:1306805)
chr21	42362282	42366535	21q22.3	21q22.3	113710	TFF1, BCEI	Trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in)	TFF1	7031	ENSG00000160182			Tff1 (MGI:88135)
chr21	42371890	42396052	21q22.3	21q22.3	605511	TMPRSS3, ECHOS1, DFNB8, DFNB10	Transmembrane protease, serine 3	TMPRSS3	64699	ENSG00000160183		Deafness, autosomal recessive 8/10, 601072 (3), Autosomal recessive	Tmprss3 (MGI:2155445)
chr21	42403902	42447684	21q22.3	21q22.3	605736	UBASH3A	Ubiquitin-associated and SH3 domain-containing protein A	UBASH3A	53347	ENSG00000160185			Ubash3a (MGI:1926074)
chr21	42472486	42496224	21q22.3	21q22.3	609314	RSPH1, TSGA2, TSA2, CILD24	Radial spoke head component 1	RSPH1	89765	ENSG00000160188		Ciliary dyskinesia, primary, 24, 615481 (3), Autosomal recessive	Rsph1 (MGI:1194909)
chr21	42499622	42581426	21q22.3	21q22.3	608094	SLC37A1, G3PP	Solute carrier family 37 (glycerol-3-phosphate transporter), member 1	SLC37A1	54020	ENSG00000160190			Slc37a1 (MGI:2446181)
chr21	42653621	42775509	21q22.3	21q22.3	602973	PDE9A, HSPDE9A2	Phosphodiesterase 9A	PDE9A	5152	ENSG00000160191			Pde9a (MGI:1277179)
chr21	42843094	42892998	21q22.3	21q22.3	605924	WDR4, MIGSB, GAMOS6	WD repeat-containing protein 4	WDR4	10785	ENSG00000160193		Galloway-Mowat syndrome 6, 618347 (3), Autosomal recessive; Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3), Autosomal recessive	Wdr4 (MGI:1889002)
chr21	42893309	42913299	21q22.3	21q22.3	602184	NDUFV3	NADH-ubiquinone oxidoreductase subunit V3	NDUFV3	4731	ENSG00000160194			Ndufv3 (MGI:1890894)
chr21	42974562	43033931	21q22.3	21q22.3	602100	PKNOX1	PBX/knotted 1 homeobox 1	PKNOX1	5316	ENSG00000160199			Pknox1 (MGI:1201409)
chr21	43053191	43076873	21q22.3	21q22.3	613381	CBS	Cystathionine beta-synthase	CBS	875	ENSG00000160200	subtelomeric	Thrombosis, hyperhomocysteinemic, 236200 (3), Autosomal recessive; Homocystinuria, B6-responsive and nonresponsive types, 236200 (3), Autosomal recessive	Cbs (MGI:88285)
chr21	43092956	43107578	21q22.3	21q22.3	191317	U2AF1	U2(RNU2) small nuclear RNA auxillary factor 1	U2AF1	7307	ENSG00000160201			U2af1 (MGI:98884)
chr21	43169008	43172810	21q22.3	21q22.3	123580	CRYAA, CRYA1, CTRCT9	Crystallin, alpha A	CRYAA	1409	ENSG00000160202		Cataract 9, multiple types, 604219 (3), Autosomal recessive, Autosomal dominant	Cryaa (MGI:88515)
chr21	43414483	43427131	21q22.3	21q22.3	605705	SIK1, SNF1LK, MSK, DEE30	Salt-inducible kinase 1	SIK1	150094	ENSG00000142178		Developmental and epileptic encephalopathy 30, 616341 (3), Autosomal dominant	Sik1 (MGI:104754)
chr21	43444972	43659488	21q22.3	21q22.3	604554	HSF2BP, POF19	Heat-shock transcription factor 2-binding protein	HSF2BP	11077	ENSG00000160207		Premature ovarian failure 19, 619245 (3), Autosomal recessive	Hsf2bp (MGI:1921627)
chr21	43659560	43696079	21q22	21q22.3	610654	RRP1B, KIAA0179, NNP1L	Ribosomal RNA-processing protein 1, S. cerevisiae, homolog of, B	RRP1B	23076	ENSG00000160208			Rrp1b (MGI:1919712)
chr21	43719129	43762299	21q22.3	21q22.3	179020	PDXK, PNK, PKH, HMSN6C	Pyridoxal kinase	PDXK	8566	ENSG00000160209		Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, 618511 (3), Autosomal recessive	Pdxk (MGI:1351869)
chr21	43773950	43776308	21q22.3	21q22.3	601145	CSTB, STFB, EPM1, PME, EPM1A, ULD	Cystatin B (stefin B)	CSTB	1476	ENSG00000160213		Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3), Autosomal recessive	Cstb (MGI:109514)
chr21	43789577	43805293	21q22.3	21q22.3	610653	RRP1, NOP52, NNP1	Ribosomal RNA-processing 1	RRP1	8568	ENSG00000160214			Rrp1 (MGI:1203500)
chr21	43865223	43987592	21q22.3	21q22.3	614794	AGPAT3, LPAAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	AGPAT3	56894	ENSG00000160216			Agpat3 (MGI:1336186)
chr21	44012309	44106552	21q22.3	21q22.3	602103	TRAPPC10, TMEM1, EHOC1, NEDMISS	Trafficking protein particle complex, subunit 10	TRAPPC10	7109	ENSG00000160218	near PWP2H	Neurodevelopmental disorder with microcephaly, short stature, and speech delay, 620027 (3), Autosomal recessive	Trappc10 (MGI:1336209)
chr21	44107399	44131181	21q22.3	21q22.3	601475	PWP2H, PWP2	PWP2 small subunit processome component	PWP2	5822	ENSG00000241945			Pwp2 (MGI:1341200)
chr21	44133683	44145711	21q22.3	21q22.3	601659	GATD3A, ES1, HES1, GT335, C21orf33	Glutamine amidotransferase-like class 1 domain-containing protein 3A	GATD3	8209	ENSG00000160221			Gatd3a (MGI:1351861)
chr21	44216981	44240943	21q22.3	21q22.3	605717	ICOSLG, B7H2, GL50, B7RP1, IMD119	Inducible T-cell co-stimulator ligand	ICOSLG	23308	ENSG00000160223	mutation identified in 1 IMD119 patient	?Immunodeficiency 119, 620825 (3), Autosomal recessive	Icosl (MGI:1354701)
chr21	44246339	44261897	21q22.3	21q22.3	606588	DNMT3L	DNA methyltransferase 3-like protein	DNMT3L	29947	ENSG00000142182			Dnmt3l (MGI:1859287)
chr21	44285876	44298648	21q22.3	21q22.3	607358	AIRE, APECED, APS1	Autoimmune regulator	AIRE	326	ENSG00000160224		Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3), Autosomal recessive, Autosomal dominant	Aire (MGI:1338803)
chr21	44300053	44327373	21q22.3	21q22.3	171860	PFKL	Phosphofructokinase, liver type	PFKL	5211	ENSG00000141959		Hemolytic anemia due to phosphofructokinase deficiency (1)	Pfkl (MGI:97547)
chr21	44328944	44339390	21q22.3	21q22.3	603191	CFAP410, C21orf2, SMDAX, RDMS	Cilia and flagella-associated protein 410	CFAP410	755	ENSG00000160226		Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive; Spondylometaphyseal dysplasia, axial, 602271 (3), Autosomal recessive	Cfap410 (MGI:1915134)
chr21	44353621	44442644	21q22.3	21q22.3	603749	TRPM2, TRPC7, KNP3	Transient receptor potential cation channel, subfamily M, member 2	TRPM2	7226	ENSG00000142185			Trpm2 (MGI:1351901)
chr21	44455510	44462196	21q22.3	21q22.3	617620	LRRC3, C21orf102, C21orf30	Leucine-rich repeat-containing protein 3	LRRC3	81543	ENSG00000160233			Lrrc3 (MGI:2447899)
chr21	44497893	44711572	21q22.3	21q22.3	612920	TSPEAR, C21orf29, DFNB98, ECTD14, STHAG10	Thrombospondin-type laminin G domain and EAR repeats	TSPEAR	54084	ENSG00000175894	mutation identified in 1 DFNB98 family	Tooth agenesis, selective, 10, 620173 (3), Autosomal recessive; ?Deafness, autosomal recessive 98, 614861 (3), Autosomal recessive; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3), Autosomal recessive	Tspear (MGI:2671932)
chr21	44768580	44801820	21q22.3	21q22.3	603124	UBE2G2, UBC7	Ubiquitin-conjugating enzyme E2 G2	UBE2G2	7327	ENSG00000184787			Ube2g2 (MGI:1343188)
chr21	44805617	44818062	21q22.3	21q22.3	602231	SUMO3, SMT3H1	Small ubiquitin-like modifier 3	SUMO3	6612	ENSG00000184900			Sumo3 (MGI:1336201)
chr21	44849598	44873690	21q22.3	21q22.3	603784	PTTG1IP, C21orf1, C21orf3, PBF	PPTG1-interacting protein	PTTG1IP	754	ENSG00000183255			Pttg1ip (MGI:2652132)
chr21	44885953	44928815	21q22.3	21q22.3	600065	ITGB2, CD18, LCAMB, LAD	Integrin, beta-2 (antigen CD18 (p95), lymphocyte function-associated antigen-1; macrophage antigen, beta polypeptide)	ITGB2	3689	ENSG00000160255	common subunit for CR3, LFA1, and P150,95	Leukocyte adhesion deficiency, 116920 (3), Autosomal recessive	Itgb2,Itgb2l (MGI:1277979,MGI:96611)
chr21	44989864	44994086	21q22.3	21q22.3	610259	LINC00163, NCRNA00163, NLC1A	Long intergenic nonprotein coding RNA 163	LINC00163	727699	ENSG00000234880			
chr21	44999208	45004727	21q22.3	21q22.3	617191	PICSAR, LINC00162, NLC1C	p38-inhibited cutaneous squamous cell carcinoma-associated long intergenic noncoding RNA	PICSAR	378825	ENSG00000275874			
chr21	45074578	45226563	21q22.3	21q22.3	601218	ADARB1, RED1, NEDHYMS	Adenosine deaminase, RNA-specific, B1 (RED1, rat, homolog of)	ADARB1	104	ENSG00000197381		Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 (3), Autosomal recessive	Adarb1 (MGI:891999)
chr21	45263935	45287895	21q22.3	21q22.3	610249	POFUT2, C21Orf80, KIAA0958	Protein O-fucosyltransferase 2	POFUT2	23275	ENSG00000186866			Pofut2 (MGI:1916863)
chr21	45405165	45513720	21q22.3	21q22.3	120328	COL18A1, KNO1, GLCC	Collagen XVIII, alpha-1 polypeptide	COL18A1	80781	ENSG00000182871		Knobloch syndrome, type 1, 267750 (3), Autosomal recessive; Glaucoma, primary closed-angle, 618880 (3), Autosomal dominant	Col18a1 (MGI:88451)
chr21	45502517	45563025	21q22.3	21q22.3	600424	SLC19A1, FOLT, MEGAF, IMD114	Solute carrier family 19 (folate transporter), member 1	SLC19A1	6573	ENSG00000173638	mutation identified in 1 MEGAF patient	Immunodeficiency 114, folate-responsive, 620603 (3), Autosomal recessive; ?Megaloblastic anemia, folate-responsive, 601775 (3), Autosomal recessive	Slc19a1 (MGI:103182)
chr21	45643725	45942450	21q22.3	21q22.3	608502	PCBP3	Poly(rC)-binding protein 3	PCBP3	54039	ENSG00000183570			Pcbp3 (MGI:1890470)
chr21	45981770	46005048	21q22.3	21q22.3	120220	COL6A1, BTHLM1A, UCHMD1A	Collagen VI, alpha-1 polypeptide	COL6A1	1291	ENSG00000142156		Ullrich congenital muscular dystrophy 1A, 254090 (3), Autosomal recessive, Autosomal dominant; Bethlem myopathy 1A, 158810 (3), Autosomal dominant	Col6a1 (MGI:88459)
chr21	46098112	46132848	21q22.3	21q22.3	120240	COL6A2, BTHLM1B, UCMD1B	Collagen VI, alpha-2 polypeptide	COL6A2	1292	ENSG00000142173	mutation identified in 1 MYSCL family	?Myosclerosis, congenital, 255600 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1B, 620727 (3), Autosomal recessive, Autosomal dominant; Bethlem myopathy 1B, 620725 (3), Autosomal recessive, Autosomal dominant	Col6a2 (MGI:88460)
chr21	46136262	46155579	21q22.3	21q22.3	606806	FTCD	Formiminotransferase cyclodeminase	FTCD	10841	ENSG00000160282		Glutamate formiminotransferase deficiency, 229100 (3), Autosomal recessive	Ftcd (MGI:1339962)
chr21	46161160	46184459	21q22.3	21q22.3	612412	C21orf56	Chromosome 21 open reading frame 56	SPATC1L	84221	ENSG00000160284			Spatc1l (MGI:1923823)
chr21	46188446	46228774	21q22.3	21q22.3	600909	LSS, OSC, CTRCT44, HYPT14, APMR4	Lanosterol synthase	LSS	4047	ENSG00000160285		Hypotrichosis 14, 618275 (3), Autosomal recessive; Cataract 44, 616509 (3), Autosomal recessive; Alopecia-intellectual disability syndrome 4, 618840 (3), Autosomal recessive	Lss (MGI:1336155)
chr21	46235133	46286265	21q22.3	21q22.3	603294	MCM3AP, MAP80, GANP, PNRIID	Minichromosome maintenance 3-associated protein, 80-kD	MCM3AP	8888	ENSG00000160294		Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3), Autosomal recessive	Mcm3ap (MGI:1930089)
chr21	46286342	46313225	21q22.3	21q22.3	617461	YBEY, C21orf57	YBEY metallopeptidase	YBEY	54059	ENSG00000182362			Ybey (MGI:2656825)
chr21	46324156	46445769	21q22.3	21q22.3	605925	PCNT, PCNT2, KEN, SCKL4, MOPD2	Pericentrin	PCNT	5116	ENSG00000160299		Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3), Autosomal recessive	Pcnt (MGI:102722)
chr21	46458891	46583871	21q22.3	21q22.3	607711	DIP2A, KIAA0184	Disco-interacting protein 2 homolog A	DIP2A	23181	ENSG00000160305	previously mapped to Chr.2		Dip2a (MGI:2385920)
chr21	46598604	46605082	21q22.2-q22.3	21q22.3	176990	S100B	S100 calcium-binding protein, beta (neural)	S100B	6285	ENSG00000160307			S100b (MGI:98217)
chr21	46635674	46665124	21q22.3	21q22.3	601961	HRMT1L1, PRMT2	HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1	PRMT2	3275	ENSG00000160310			Prmt2 (MGI:1316652)
chr22	4300001	9400000	22p12		180454	RNR5	Ribosomal RNA-5		6056				
chr22	11474777	11479843	22p	22p11.2	194547	ZNF73	Zinc finger protein-73 (Cos12)	ZNF73P	105379427	ENSG00000288262			
chr22	15000001	25500000	22q11		125520	ACF	Asymmetric crying facies (Cayler cardiofacial syndrome)		387569			Cayler cardiofacial syndrome, 125520 (2), Autosomal dominant	
chr22	15000001	25500000	22q11		115470	CECR, CES	Cat eye syndrome				partial tetrasomy of 22q11	Cat eye syndrome, 115470 (4), Autosomal dominant	
chr22	15000001	37200000	22q11-q12		151626	LRE1, L1.2	Line-1.2 retrotransposable element						
chr22	15690026	15721631	22q11.1	22q11.1	608913	POTEH, POTE22, ACTBL1	POTE ankyrin domain family, member H	POTEH	23784	ENSG00000198062			Ankrd68,Potefam1,Potefam2 (MGI:1914825,MGI:1918231,MGI:3644757)
chr22	16195709	16198040	22p	22q11.1	194546	ZNF72	Zinc finger protein-72 (Cos8)	ZNF72AP	100287084				
chr22	16783480	16825411	22q11.1	22q11.1	611674	XKR3, XTES, XRG3	X Kell blood group precursor-related family, member 3	XKR3	150165	ENSG00000172967			
chr22	17085000	17115693	22q11.22-q11.23	22q11.1	605461	IL17RA, IL17R, IMD51	Interleukin 17 receptor A	IL17RA	23765	ENSG00000177663		Immunodeficiency 51, 613953 (3), Autosomal recessive	Il17ra (MGI:107399)
chr22	17178790	17221848	22q11.2	22q11.1	607575	ADA2, CECR1, VAIHS, SNEDS	Adenosine deaminase 2	ADA2	51816	ENSG00000093072		Sneddon syndrome, 182410 (3), Autosomal recessive; Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 (3), Autosomal recessive	
chr22	17359949	17558151	22q11.2	22q11.1-q11.21	607576	CECR2, KIAA1740	CECR2 histone acetyl-lysine reader	CECR2	27443	ENSG00000099954			Cecr2 (MGI:1923799)
chr22	17400001	25500000	22q11.2		611867	DEL22q11.2, C22DELq11.2	Chromosome 22q11.2 deletion syndrome, distal					Chromosome 22q11.2 deletion syndrome, distal, 611867 (4), Autosomal dominant	
chr22	17400001	25500000	22q11.2		609029	DER22t11-22	Emanuel syndrome (supernumerary der(22)t(11;22) syndrome)					Emanuel syndrome, 609029 (4), Inherited chromosomal imbalance	
chr22	17400001	25500000	22q11.2		613700	DER22t8-22	Supernumerary der(22)t(8;22) syndrome					Supernumerary der(22)t(8-22) syndrome, 613700 (4)	
chr22	17400001	29200000	22q11.21-q12.1		608264	DFNB40	Deafness, autosomal recessive 40		379003			Deafness, autosomal recessive 40, 608264 (2), Autosomal recessive	
chr22	17400001	25500000	22q11.2		608363	DUP22q11.2	Chromosome 22q11.2 microduplication syndrome				contiguous gene microduplication syndrome	Chromosome 22q11.2 microduplication syndrome, 608363 (4), Autosomal dominant, Isolated cases	
chr22	17400001	25500000	22q11.2		600436	GSTT1	Glutathione S-transferase, theta-1	GSTT1	2952				Gstt1 (MGI:107379)
chr22	17400001	25500000	22q11.2		147230	IGLJ@	Immunoglobulin lambda light chain joining gene cluster		8217		nine J-C duplexes		
chr22	17400001	25500000	22q11.2		147240	IGLV@	Immunoglobulin lambda light chain variable gene cluster		3546		many genes		
chr22	17563498	17590995	22q11.2	22q11.21	609303	SLC25A18, GC2	Solute carrier family 25 (mitochondrial carrier, glutamate), member 18	SLC25A18	83733	ENSG00000182902			Slc25a18 (MGI:1919053)
chr22	17592136	17628822	22q11.2	22q11.21	108746	ATP6V1E1, ATP6E, ARCL2C	ATPase, H+ transporting, V1 subunit E1	ATP6V1E1	529	ENSG00000131100		Cutis laxa, autosomal recessive, type IIC, 617402 (3), Autosomal recessive	Atp6v1e1 (MGI:894326)
chr22	17628877	17730855	22q11	22q11.21	619822	BCL2L13	BCL2-like 13	BCL2L13	23786	ENSG00000099968			Bcl2l13 (MGI:2136959)
chr22	17734138	17774665	22q11.2	22q11.21	601997	BID	BH3-interacting domain death agonist	BID	637	ENSG00000015475			Bid (MGI:108093)
chr22	17787649	18024561	22q11.21	22q11.21	608882	MICAL3, KIAA1364	Microtubule-associated monooxygenase, calponin and LIM domains-containing 3	MICAL3	57553	ENSG00000243156			Mical3 (MGI:2442733)
chr22	17980868	17980961	22q11.21	22q11.21	616205	MIR648	Micro RNA 648	MIR648	693233	ENSG00000207780	in intron 1 of MICAL3		
chr22	18077990	18105396	22q11.21	22q11.21	608666	PEX26, PBD7A, PBD7B	Peroxisome biogenesis factor 26	PEX26	55670	ENSG00000215193		Peroxisome biogenesis disorder 7B, 614873 (3), Autosomal recessive; Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3), Autosomal recessive	Pex26 (MGI:1921293)
chr22	18110809	18131732	22q11	22q11.21	605742	TUBA8, TUBAL2, MACTHC2	Tubulin, alpha 8	TUBA8	51807	ENSG00000183785		Macrothrombocytopenia, isolated, 2, autosomal dominant, 619840 (3), Autosomal dominant	Tuba8 (MGI:1858225)
chr22	18150170	18177397	22q11.2	22q11.21	607057	USP18, UBP43, ISG43, PTORCH2	Ubiquitin-specific protease 18	USP18	11274	ENSG00000184979		Pseudo-TORCH syndrome 2, 617397 (3), Autosomal recessive	Usp18 (MGI:1344364)
chr22	18516338	18518166	22q11.2	22q11.21	612340	GGTLC3	Gamma-glutamyltransferase, light chain 3	GGTLC3	728226	ENSG00000274252			Ggt1 (MGI:95706)
chr22	18605815	18611919	22q11.21	22q11.21	612699	RIMBP3, RIMBP3A, KIAA1666	RIMS-binding protein 3	RIMBP3	85376	ENSG00000275793			Rimbp3 (MGI:2685449)
chr22	18906223	18912088	22q11	22q11.21	601279	DGCR6	DiGeorge syndrome critical region 6	DGCR6	8214	ENSG00000183628			Dgcr6 (MGI:1202877)
chr22	18912781	18936553	22q11.2	22q11.21	606810	PRODH, PRODH2, SCZD4	Proline dehydrogenase (proline oxidase)	PRODH	5625	ENSG00000100033		{Schizophrenia, susceptibility to, 4}, 600850 (3), Autosomal dominant; Hyperprolinemia, type I, 239500 (3), Autosomal recessive	Prodh (MGI:97770)
chr22	18970468	19031242	22q11.2	22q11.21	618040	DGCR5, LINC00037	Digeorge syndrome critical region gene 5	DGCR5	26220	ENSG00000273032			
chr22	19036286	19122412	22q11.2	22q11.21	600594	DGCR2, IDD	DiGeorge critical region gene 2 (integral membrane protein deleted in DiGeorge syndrome)	DGCR2	9993	ENSG00000070413			Dgcr2 (MGI:892866)
chr22	19130279	19144651	22q11.2	22q11.21	601755	ESS2, DGSI, DGCR14	Ess2 splicing factor, Xenopus, homolog of	ESS2	8220	ENSG00000100056			Ess2 (MGI:107854)
chr22	19131308	19132622	22q11.21	22q11.21	610710	TSSK2, STK22B	Testis-specific serine/threonine kinase 2	TSSK2	23617	ENSG00000206203			Tssk2 (MGI:1347559)
chr22	19146993	19150292	22q11.21	22q11.21	601845	GSC2, GSCL	Goosecoid homeobox 2	GSC2	2928	ENSG00000063515			Gsc2 (MGI:892006)
chr22	19175581	19178736	22q11	22q11.21	190315	SLC25A1, SLC20A3, CTP, D2L2AD, CMS23	Solute carrier family 25 (mitochondrial citrate transporter), member 1	SLC25A1	6576	ENSG00000100075		Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Autosomal recessive; Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3), Autosomal recessive	Slc25a1 (MGI:1345283)
chr22	19179473	19291719	22q11.2	22q11.21	601273	CLTCL1, CLTD	Clathrin, heavy polypeptide-like 1	CLTCL1	8218	ENSG00000070371			
chr22	19253131	19253469	22q11	22q11.21	601225	DVL1P1, DVL, DVL1	Dishevelled segment polarity protein 1, pseudogene 1	DVL1P1	8215				
chr22	19330698	19431733	22q11	22q11.21	600237	HIRA, TUPLE1	Histone cell cycle regulator	HIRA	7290	ENSG00000100084	?role in CATCH22		Hira (MGI:99430)
chr22	19432545	19436075	22q11.21	22q11.21	605089	MRPL40, NLVCF, MRPL22	Mitochondrial ribosomal protein L40	MRPL40	64976	ENSG00000185608			Mrpl40 (MGI:1332635)
chr22	19449911	19479193	22q11.2	22q11.21	601754	UFD1L	Ubiquitin fusion degradation 1-like	UFD1	7353	ENSG00000070010	?role in CATCH22		Ufd1 (MGI:109353)
chr22	19479466	19520612	22q11.2	22q11.21	603465	CDC45, CDC45L, CDC45L2, MGORS7	Cell division cycle 45	CDC45	8318	ENSG00000093009		Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive	Cdc45 (MGI:1338073)
chr22	19523024	19525337	22q11.2	22q11.21	602101	CLDN5, TMVCF, AWAL	Claudin-5 (transmembrane protein deleted in velocardiofacial syndrome)	CLDN5	7122	ENSG00000184113			Cldn5 (MGI:1276112)
chr22	19714503	19723319	22q11.2	22q11.21	602724	SEPT5, PNUTL1, CDCREL	Septin 5	SEPTIN5	5413	ENSG00000184702	just 5' of GP1BB		Septin5 (MGI:1195461)
chr22	19723539	19724771	22q11.2	22q11.21	138720	GP1BB, BS, BDPLT1	Glycoprotein Ib, platelet, beta polypeptide	GP1BB	2812	ENSG00000203618		Giant platelet disorder, isolated, 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type B, 231200 (3), Autosomal recessive	Gp1bb (MGI:107852)
chr22	19756703	19783593	22q11.2	22q11.21	602054	TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR	T-box 1	TBX1	6899	ENSG00000184058		Tetralogy of Fallot, 187500 (3), Autosomal dominant; DiGeorge syndrome, 188400 (3), Autosomal dominant; Conotruncal anomaly face syndrome, 217095 (3); Velocardiofacial syndrome, 192430 (3), Autosomal dominant	Tbx1 (MGI:98493)
chr22	19783223	19854874	22q11.2	22q11.21	610778	GNB1L, WDR14	Guanine nucleotide-binding protein, beta-1-like	GNB1L	54584	ENSG00000185838			Gnb1l (MGI:1338057)
chr22	19846146	19854874	22q11.21	22q11.21	620751	RTL10, C22orf29	Retrotransposon GAG-like 10	RTL10	79680	ENSG00000215012			
chr22	19875522	19941818	22q11.2	22q11.21	606448	TXNRD2, TRXR2, SELZ, GCCD5	Thioredoxin reductase 2	TXNRD2	10587	ENSG00000184470	mutation identified in 1 GCCD5 family	?Glucocorticoid deficiency 5, 617825 (3), Autosomal recessive	Txnrd2 (MGI:1347023)
chr22	19941772	19969975	22q11.2	22q11.21	116790	COMT	Catechol-O-methyltransferase	COMT	1312	ENSG00000093010		{Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; {Panic disorder, susceptibility to}, 167870 (3), ?Autosomal dominant	Comt (MGI:88470)
chr22	19965134	20016823	22q11	22q11.21	602269	ARVCF	ARVCF delta catenin family member	ARVCF	421	ENSG00000099889	?role in VCFS		Arvcf (MGI:109620)
chr22	20017023	20067164	22q11.2	22q11.21	616830	TANGO2, C22orf25, MECRCN	Transport and golgi organization 2 homolog	TANGO2	128989	ENSG00000183597		Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3), Autosomal recessive	Tango2 (MGI:101825)
chr22	20033139	20033220	22q11.21	22q11.21	615576	MIR185	Micro RNA 185	MIR185	406961	ENSG00000208023	within first intron of C22orf25		Mir185 (MGI:2676849)
chr22	20080241	20111872	22q11.2	22q11.21	609030	DGCR8	DGCR8 microprocessor complex subunit	DGCR8	54487	ENSG00000128191			Dgcr8 (MGI:2151114)
chr22	20111875	20117226	22q11.21	22q11.21	611151	TRMT2A, HTF9C	tRNA methyltransferase 2 homolog A	TRMT2A	27037	ENSG00000099899			Trmt2a (MGI:96270)
chr22	20116104	20127355	22q11.21	22q11.21	601180	RANBP1, HTF9A	RAN-binding protein 1	RANBP1	5902	ENSG00000099901			Ranbp1 (MGI:96269)
chr22	20131804	20148007	22q11.21	22q11.21	608784	ZDHHC8, ZNF378, KIAA1292	Zinc finger DHHC domain-containing protein 8	ZDHHC8	29801	ENSG00000099904			Zdhhc8 (MGI:1338012)
chr22	20241415	20268318	22q11	22q11.21	605566	RTN4R, NOGOR	NOGO receptor (reticulon 4 receptor)	RTN4R	65078	ENSG00000040608		{Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant	Rtn4r (MGI:2136886)
chr22	20314238	20320060	22q11	22q11.21	609459	DGCR6L	DiGeorge syndrome critical region gene 6-like	DGCR6L	85359	ENSG00000128185			Dgcr6 (MGI:1202877)
chr22	20394151	20408455	22q11.2	22q11.21	194548	ZNF74	Zinc finger protein-74 (Cos52)	ZNF74	7625	ENSG00000185252			
chr22	20424584	20437825	22q11	22q11.21	613619	SCARF2, SREC2, VDEGS	Scavenger receptor class F, member 2	SCARF2	91179	ENSG00000244486		Van den Ende-Gupta syndrome, 600920 (3), Autosomal recessive	Scarf2 (MGI:1858430)
chr22	20441519	20495795	22q11.21	22q11.21	618020	KLHL22	Kelch-like 22	KLHL22	84861	ENSG00000099910			Klhl22 (MGI:1337995)
chr22	20507610	20587619	22q11.2	22q11.21	607372	MED15, PCQAP, TIG1, ARC105	Mediator complex subunit 15	MED15	51586	ENSG00000099917			Med15 (MGI:2137379)
chr22	20707691	20858811	22q11.21	22q11.21	600286	PI4KA, PIK4CA, PMGYCHA, SPG84, GIDID2	Phosphatidylinositol 4-kinase, alpha	PI4KA	5297	ENSG00000241973		Spastic paraplegia 84, autosomal recessive, 619621 (3), Autosomal recessive; Gastrointestinal defects and immunodeficiency syndrome 2, 619708 (3), Autosomal recessive; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3), Autosomal recessive	Pi4ka (MGI:2448506)
chr22	20774113	20787720	22q11	22q11.21	142360	HCF2, HC2, SERPIND1, THPH10	Heparin cofactor II	SERPIND1	3053	ENSG00000099937	proximal to BCR	Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3), Autosomal dominant	Serpind1 (MGI:96051)
chr22	20859007	20891214	22q11.2	22q11.21	604202	SNAP29, CEDNIK	Synaptosomal-associated protein, 29kD	SNAP29	9342	ENSG00000099940		Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3), Autosomal recessive	Snap29 (MGI:1914724)
chr22	20917407	20953747	22q11	22q11.21	602007	CRKL	v-crk avian sarcoma virus CT10 oncogene homolog-like	CRKL	1399	ENSG00000099942			Crkl (MGI:104686)
chr22	20965172	20981358	22q11.21	22q11.21	617298	AIFM3, AIFL	Apoptosis-inducing factor, mitochondria-associated, 3	AIFM3	150209	ENSG00000183773			Aifm3 (MGI:1919418)
chr22	20982297	20999032	22q11.1-q11.2	22q11.21	600574	LZTR1, SWNTS2, NS10, NS2	Leucine-zipper-like regulator-1	LZTR1	8216	ENSG00000099949		Noonan syndrome 2, 605275 (3), Autosomal recessive; Noonan syndrome 10, 616564 (3), Autosomal dominant; {Schwannomatosis-2, susceptibility to}, 615670 (3), Autosomal dominant	Lztr1 (MGI:1914113)
chr22	20999104	21002118	22q11.21	22q11.21	609518	THAP7	THAP domain-containing protein 7	THAP7	80764	ENSG00000184436			Thap7 (MGI:1916259)
chr22	21009799	21028008	22q11	22q11.21	608077	P2RXL1, P2XM, P2X6	Purinergic receptor P2X-like 1	P2RX6	9127	ENSG00000099957			P2rx6 (MGI:1337113)
chr22	21028718	21032561	22q11.2	22q11.21	603752	SLC7A4, CAT4	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 4	SLC7A4	6545	ENSG00000099960			Slc7a4 (MGI:2146512)
chr22	21207976	21259684	22q11.1	22q11.21	137181	GGT2	Gamma-glutamyltransferase-2	GGT2P	728441			[Gamma-glutamyltransferase, familial high serum], 137181 (2)	Ggt1 (MGI:95706)
chr22	21383751	21389478	22q11.21	22q11.21	612700	RIMBP3B	RIMS-binding protein 3B	RIMBP3B	440804	ENSG00000274600			Rimbp3 (MGI:2685449)
chr22	21417371	21451463	22q11.2	22q11.21	607712	HIC2, HRG22, KIAA1020	Hypermethylated in cancer 2	HIC2	23119	ENSG00000169635			Hic2 (MGI:1929869)
chr22	21545666	21551461	22q11.21	22q11.21	612701	RIMBP3C	RIMS-binding protein 3C	RIMBP3C	150221	ENSG00000183246			Rimbp3 (MGI:2685449)
chr22	21549447	21624034	22q11.2-q13.1	22q11.21	603721	UBE2L3, UBCH7	Ubiquitin-conjugating enzyme E2 L3	UBE2L3	7332	ENSG00000185651	pseudogenes on 12q12 and 19q13.1-q13.2		Ube2l3 (MGI:109240)
chr22	21628089	21630022	22q11.21	22q11.21	619770	YDJC	YDJC chitooligosaccharide deacetylase homolog	YDJC	150223	ENSG00000161179			Ydjc (MGI:1916351)
chr22	21642302	21644299	22q11.2	22q11.21	607551	SDF2L1	Stromal cell-derived factor 2-like 1	SDF2L1	23753	ENSG00000128228			Sdf2l1 (MGI:2149842)
chr22	21653304	21653385	22q11.21-q11.22	22q11.21	613682	MIR130B, MIRN130B	Micro RNA 130B	MIR130B	406920	ENSG00000283871			Mir130b (MGI:3618716)
chr22	21666012	21700015	22q11.21	22q11.21-q11.22	607588	PPIL2, CYP60	Peptidyl-prolyl isomerase-like 2	PPIL2	23759	ENSG00000100023			Ppil2 (MGI:2447857)
chr22	21697536	21735794	22q11.2	22q11.21-q11.22	608082	YPEL1	Yippee-like 1	YPEL1	29799	ENSG00000100027	pseudogene on 9p24.3		Ypel1 (MGI:1913303)
chr22	21759657	21867680	22q11.2	22q11.22	176948	MAPK1, PRKM1, ERK2, NS13	Mitogen-activated protein kinase 1	MAPK1	5594	ENSG00000100030		Noonan syndrome 13, 619087 (3), Autosomal dominant	Mapk1 (MGI:1346858)
chr22	21919425	21952848	22q11.22	22q11.22	619309	PPM1F, POPX2, CAMKP	Protein phosphatase, magnesium/manganese-dependent, 1F	PPM1F	9647	ENSG00000100034			Ppm1f (MGI:1918464)
chr22	21957025	21982787	22q11	22q11.22	603582	TOP3B	Topoisomerase, DNA, III, beta	TOP3B	8940	ENSG00000100038			Top3b (MGI:1333803)
chr22	22244786	22245515	22q11.2	22q11.22	605141	VPREB1, IGI, VPREB	Pre-B lymphocyte gene 1	VPREB1	7441	ENSG00000169575			Vpreb1a,Vpreb1b (MGI:98936,MGI:98937)
chr22	22547701	22559265	22q11.22	22q11.22	606021	PRAME, MAPE, OIP4	PRAME nuclear receptor transcriptional regulator	PRAME	23532	ENSG00000185686			Pramel13 (MGI:1924882)
chr22	22644614	22647898	22q11.2	22q11.22	612339	GGTLC2, GGTL4	Gamma-glutamyltransferase, light chain 2	GGTLC2	91227	ENSG00000100121			Ggt1 (MGI:95706)
chr22	22822776	22822871	22q11.22	22q11.22	615379	MIR650	Micro RNA 650	MIR650	723778	ENSG00000284049			
chr22	22895375	22895694	22q11.2	22q11.22	147220	IGLC1, IGLC	Constant region of lambda light chains		3537	ENSG00000211675	several genes		Iglc3 (MGI:99886)
chr22	23059415	23180729	22q11.2	22q11.22-q11.23	605663	RSPH14, RTDR1	Radial spoke head 14 homolog	RSPH14	27156	ENSG00000100218			Rsph14 (MGI:1918486)
chr22	23070519	23125032	22q11.2	22q11.22-q11.23	139160	GNAZ	Guanine nucleotide-binding protein (G protein), alpha z polypeptide	GNAZ	2781	ENSG00000128266			Gnaz (MGI:95780)
chr22	23145324	23169280	22q11.2	22q11.23	605662	RAB36	Ras family, member 36	RAB36	9609	ENSG00000100228			Rab36 (MGI:1924127)
chr22	23180509	23318037	22q11.21	22q11.23	151410	BCR, CML, PHL, ALL	BCR activator of RhoGEF and GTPase	BCR	613	ENSG00000186716	Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML	Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic, 608232 (4); Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic, 613065 (4)	Bcr (MGI:88141)
chr22	23573125	23580290	22q11.21	22q11.23	146770	IGLL1, IGO, IGL5, VPREB2, AGM2	Immunoglobulin lambda-like polypeptide 1 (immunoglobulin omega peptide)	IGLL1	3543	ENSG00000128322	between BCR2 and BCR4; distal to IGLC	Agammaglobulinemia 2, 613500 (3), Autosomal recessive	Igll1 (MGI:96529)
chr22	23691013	23699168	22q11.2	22q11.23	612214	RGL4, RGR	Ral guanine nucleotide dissociation stimulator-like 4	RGL4	266747	ENSG00000159496			
chr22	23738682	23751112	22q11.2	22q11.23	194544	ZNF70	Zinc finger protein-70 (Cos17)	ZNF70	7621	ENSG00000187792			
chr22	23752743	23754425	22q11	22q11.23	605017	VPREB3	Pre-B-lymphocyte gene 3	VPREB3	29802	ENSG00000128218			Vpreb3 (MGI:98938)
chr22	23765834	23767972	22q11.23	22q11.23	615903	CHCHD10, FTDALS2, SMAJ, IMMD	Coiled-coil-helix-coiled-coil-helix domain-containing protein 10	CHCHD10	400916	ENSG00000250479	mutation identified in 1 IMMD family	?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3), Autosomal dominant; Spinal muscular atrophy, Jokela type, 615048 (3), Autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3), Autosomal dominant	Chchd10 (MGI:2143558)
chr22	23772849	23784316	22q11.2	22q11.23	185261	MMP11, STMY3	Matrix metalloproteinase 11 (stromelysin 3)	MMP11	4320	ENSG00000099953			Mmp11 (MGI:97008)
chr22	23786966	23838009	22q11	22q11.23	601607	SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	SMARCB1	6598	ENSG00000099956		Rhabdoid tumors, somatic, 609322 (3); {Schwannomatosis-1, susceptibility to}, 162091 (3), Autosomal dominant; Coffin-Siris syndrome 3, 614608 (3), Autosomal dominant; {Rhabdoid tumor predisposition syndrome 1}, 609322 (3), Autosomal dominant	Smarcb1 (MGI:1328366)
chr22	23834503	23839006	22q11.23	22q11.23	610305	DERL3	DER1-like domain family, member 3	DERL3	91319	ENSG00000099958			Derl3 (MGI:1917627)
chr22	23856934	23886312	22q11.2	22q11.23	610367	SLC2A11, GLUT11	Solute carrier family 2 (facilitated glucose transporter), member 11	SLC2A11	66035	ENSG00000133460			
chr22	23894383	23895223	22q11.2	22q11.23	153620	MIF	Macrophage migration inhibitory factor	MIF	4282	ENSG00000240972	previously assigned to chr.19	{Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3)	Mif (MGI:96982)
chr22	23971370	23980504	22q11.2	22q11.23	602750	DDT	D-dopachrome tautomerase	DDT	1652	ENSG00000099977			Ddt (MGI:1298381)
chr22	23980134	23983915	22q11.2	22q11.23	600437	GSTT2	Glutathione S-transferase theta-2	GSTT2	2953	ENSG00000099984			Gstt2 (MGI:106188)
chr22	24011304	24178628	22q11.2	22q11.23	604251	CABIN1, CAIN	Calcineurin-binding protein 1	CABIN1	23523	ENSG00000099991			Cabin1 (MGI:1298375)
chr22	24181487	24189106	22q11.23	22q11.23	615825	SUSD2	Sushi domain-containing protein 2	SUSD2	56241	ENSG00000099994			Susd2 (MGI:1918983)
chr22	24219654	24245142	22q11.2	22q11.23	137168	GGT5	Gamma-glutamyltransferase 5	GGT5	2687	ENSG00000099998			Ggt5 (MGI:1346063)
chr22	24270831	24417738	22q11.23	22q11.23	614140	SPECC1L, KIAA0376, OBLFC1, TBHS1	Sperm antigen with calponin homology and coiled-coil domains 1-like	SPECC1L	23384	ENSG00000100014	mutation identified in 1 OBLFC1 patient	Teebi hypertelorism syndrome 1, 145420 (3), Autosomal dominant; ?Facial clefting, oblique, 1, 600251 (3), Autosomal dominant	Specc1l (MGI:1921642)
chr22	24423597	24442357	22q11.2	22q11.23	102776	ADORA2A	Adenosine A2a receptor	ADORA2A	135	ENSG00000128271	incorrectly assigned to 11q		Adora2a (MGI:99402)
chr22	24495332	24528390	22q11.2	22q11.23	606673	UPB1, BUP1	Beta-ureidopropionase	UPB1	51733	ENSG00000100024		Beta-ureidopropionase deficiency, 613161 (3), Autosomal recessive	Upb1 (MGI:2143535)
chr22	24540438	24555894	22q11.23	22q11.23	619171	GUCD1	Guanylyl cyclase domain-containing protein 1	GUCD1	83606	ENSG00000138867			Gucd1 (MGI:1916028)
chr22	24555650	24574971	22q11.23	22q11.23	601062	SNRPD3	Small nuclear ribonucleoprotein polypeptide D3	SNRPD3	6634	ENSG00000100028			Snrpd3 (MGI:1914582)
chr22	24583750	24628996	22q11.2	22q11.23	612346	GGT1, GGT, GGTD	Gamma-glutamyltransferase 1	GGT1	2678	ENSG00000100031	mutation identified in 1 GGTD family	?Glutathioninuria, 231950 (3), Autosomal recessive	Ggt1 (MGI:95706)
chr22	24719034	24774720	22q11.2	22q11.23	610314	PIWIL3	PIWI-like RNA-mediated gene silencing 3	PIWIL3	440822	ENSG00000184571			
chr22	24806211	24927578	22q11.23	22q11.23	611417	SGSM1, KIAA1941	Small G protein signaling modulator 1	SGSM1	129049	ENSG00000167037			Sgsm1 (MGI:107320)
chr22	25199858	25207359	22q11.2-q12.2	22q11.23	123630	CRYBB3, CRYB3, CATCN2, CTRCT22	Crystallin, beta-B3	CRYBB3	1417	ENSG00000100053		Cataract 22, 609741 (3), Autosomal recessive, Autosomal dominant	Crybb3 (MGI:102717)
chr22	25211661	25231869	22q11.2-q12.2	22q11.23	123620	CRYBB2, CRYB2, CTRCT3, CCA2	Crystallin, beta-B2	CRYBB2	1415	ENSG00000244752	2nd CRYB2 gene in same region	Cataract 3, multiple types, 601547 (3), Autosomal dominant	Crybb2 (MGI:88519)
chr22	25500001	37200000	22q12		613106	BRV2	Vertigo, benign recurrent, 2		100313948			Vertigo, benign recurrent, 2, 613106 (2)	
chr22	25500001	50818468	22q12-q13		613284	HCHGQ3	Hematocrit/hemoglobin quantitative trait locus 3		100381206		associated with rs855791	[Hematocrit/hemoglobin quantitative trait locus 3], 613284 (2)	
chr22	25500001	31800000	22q12.1-q12.2		606960	ITS	Insulinoma tumor suppressor gene locus		282551			Insulinoma (1)	
chr22	25500001	37200000	22q12		608207	KAZA1	Kala-azar (visceral leishmaniasis), susceptibility to, 1		387582			{Kala-azar, susceptibility to, 1}, 608207 (2)	
chr22	25500001	37200000	22q12		611004	SQTL2	Smoking as a quantitative trait locus 2		100188828		max lod at D22S315	{Smoking as a quantitative trait locus 2}, 611004 (2)	
chr22	25564675	25729294	22q11	22q12.1	109636	ADRBK2, BARK2, GRK3	Adrenergic, beta, receptor kinase-2	GRK3	157	ENSG00000100077			Grk3 (MGI:87941)
chr22	25742188	26063847	22q12.1	22q12.1	607295	MYO18B, KFS4	Myosin XVIIIB	MYO18B	84700	ENSG00000133454		Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3), Autosomal recessive	Myo18b (MGI:1921626)
chr22	26169462	26383596	22q12.1	22q12.1	607021	SEZ6L	Seizure-related 6-like	SEZ6L	23544	ENSG00000100095			Sez6l (MGI:1935121)
chr22	26443109	26483863	22q11.2-q12.2	22q12.1	606682	HPS4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	HPS4	89781	ENSG00000100099		Hermansky-Pudlak syndrome 4, 614073 (3), Autosomal recessive	Hps4 (MGI:2177742)
chr22	26483877	26494658	22q12.1	22q12.1	602254	SRRD	SRR1 domain-containing protein	SRRD	402055	ENSG00000100104			Srrd (MGI:1917368)
chr22	26491240	26512473	22q12.1	22q12.1	612747	TFIP11, TIP39, NTR1	Tuftelin-interacting protein 11	TFIP11	24144	ENSG00000100109			Tfip11 (MGI:1930075)
chr22	26521996	26590132	22q12.1	22q12.1	603126	TPST2	Tyrosylprotein phosphotransferase 2	TPST2	8459	ENSG00000128294			Tpst2 (MGI:1309516)
chr22	26590220	26630669	22q11.2-q13.1	22q12.1	123631	CRYBA4, CTRCT23	Crystallin, beta polypeptide A4	CRYBA4	1413	ENSG00000196431		Cataract 23, 610425 (3), Autosomal dominant	Cryba4 (MGI:102716)
chr22	26599278	26618027	22q11.2-q12.1	22q12.1	600929	CRYBB1, CATCN3, CTRCT17	Crystallin, beta B1	CRYBB1	1414	ENSG00000100122		Cataract 17, multiple types, 611544 (3), Autosomal recessive, Autosomal dominant	Crybb1 (MGI:104992)
chr22	26646429	26676478	22q12.1	22q12.1	611082	MIAT, C22orf35	MIAT gene	MIAT	440823	ENSG00000225783		{Myocardial infarction, susceptibility to}, 608446 (3)	Miat (MGI:2444886)
chr22	27748277	27801756	22q12.3-qter	22q12.1	156100	MN1, MGCR, CEBALID	MN1 protooncogene, transcriptional regulator	MN1	4330	ENSG00000169184	fused with TEL in AML	CEBALID syndrome, 618774 (3), Autosomal dominant; Meningioma, 607174 (3), Autosomal dominant	Mn1 (MGI:1261813)
chr22	27851669	27919256	22q12.1	22q12.1	606876	PITPNB	Phosphatidylinositol transfer protein, beta	PITPNB	23760	ENSG00000180957			Pitpnb (MGI:1927542)
chr22	27978014	28679840	22q12.1	22q12.1	615098	TTC28, TPRBK, KIAA1043	Tetratricopeptide repeat domain-containing protein 28	TTC28	23331	ENSG00000100154			Ttc28 (MGI:2140873)
chr22	28687743	28741834	22q12.1	22q12.1	604373	CHEK2, RAD53, CHK2, CDS1, TPDS4	Checkpoint kinase 2	CHEK2	11200	ENSG00000183765		Prostate cancer, somatic, 176807 (3); Osteosarcoma, somatic, 259500 (3); Tumor predisposition syndrome 4, breast/prostate/colorectal, 609265 (3)	Chek2 (MGI:1355321)
chr22	28742032	28757510	22q11-q12	22q12.1	608142	HSC20, HSCB, JAC1, SIDBA5	HSCB mitochondrial iron-sulfur cluster cochaperone	HSCB	150274	ENSG00000100209	mutation identified in 1 patient	?Anemia, sideroblastic, 5, 619523 (3), Autosomal recessive	Hscb (MGI:2141135)
chr22	28794560	28800569	22q12	22q12.1	194355	XBP1, XBP2	X-box-binding protein-1	XBP1	7494	ENSG00000100219	pseudogene on chr.5	{Major affective disorder-7, susceptibility to}, 612371 (3)	Xbp1 (MGI:98970)
chr22	28883572	29057488	22q12.1	22q12.1	612062	ZNRF3, KIAA1133	Zinc finger and ring finger protein 3	ZNRF3	84133	ENSG00000183579			Znrf3 (MGI:3039616)
chr22	29073035	29168333	22q12.1	22q12.1	609898	KREMEN1, KRM1, ECTD13	Kringle domain-containing transmembrane protein 1	KREMEN1	83999	ENSG00000183762		Ectodermal dysplasia 13, hair/tooth type, 617392 (3), Autosomal recessive	Kremen1 (MGI:1933988)
chr22	29205896	29259597	22q12.2	22q12.2	608926	EMID1, EMU1	EMI domain-containing protein 1	EMID1	129080	ENSG00000186998			Emid1 (MGI:2155091)
chr22	29268268	29300521	22q12	22q12.2	133450	EWSR1, EWS	EWS RNA-binding protein 1	EWSR1	2130	ENSG00000182944	t(11;22)(q24;q12); t(21;22)(q22;q12)	Neuroepithelioma, 612219 (3); Ewing sarcoma, 612219 (3)	Ewsr1 (MGI:99960)
chr22	29306650	29312787	22q12	22q12.2	602128	GAS2L1, GAR22	Growth arrest-specific 2 like 1	GAS2L1	10634	ENSG00000185340			Gas2l1 (MGI:1926176)
chr22	29312933	29319859	22q12	22q12.2	602220	RASL10A, RRP22	Ras-like, family 10, member A	RASL10A	10633	ENSG00000100276			Rasl10a (MGI:1922918)
chr22	29327680	29388570	22q12	22q12.2	600157	AP1B1, ADTB1, BAM22, CLAPB2, KIDAR	Adaptor-related protein complex 1, beta 1 subunit (adaptin, beta)	AP1B1	162	ENSG00000100280		Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 (3), Autosomal recessive	Ap1b1 (MGI:1096368)
chr22	29387909	29442455	22q12-q13	22q12.2	605968	RFPL1	RET finger protein-like 1	RFPL1	5988	ENSG00000128250			Rfpl4 (MGI:2149590)
chr22	29437015	29442129	22q12-q13	22q12.2	605972	RFPL1S	Ret finger protein-like 1, antisense	RFPL1S	10740				
chr22	29480218	29491390	22q12.2	22q12.2	162230	NEFH, CMT2CC	Neurofilament, heavy polypeptide	NEFH	4744	ENSG00000100285	mutation identified in 1 family with ALS susceptibility	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant; {?Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant	Nefh (MGI:97309)
chr22	29505879	29553757	22q12	22q12.2	612733	THOC5, FMIP	THO complex 5	THOC5	8563	ENSG00000100296			Thoc5 (MGI:1351333)
chr22	29554808	29581113	22q12.2	22q12.2	603249	NIPSNAP1	Nipsnap homolog 1	NIPSNAP1	8508	ENSG00000184117			Nipsnap1 (MGI:1278344)
chr22	29603556	29698600	22q12.2	22q12.2	607379	NF2, SWNV	Neurofibromin 2	NF2	4771	ENSG00000186575		Meningioma, NF2-related, somatic, 607174 (3); Schwannomatosis, vestibular, 101000 (3), Autosomal dominant; Schwannomatosis, somatic, 101000 (3)	Nf2 (MGI:97307)
chr22	29720003	29731833	22q12.2	22q12.2	618759	CABP7, CALN2	Calcium-binding protein 7	CABP7	164633	ENSG00000100314			Cabp7 (MGI:2183437)
chr22	29730956	29767007	22q12.2	22q12.2	619741	ZMAT5	Zinc finger, matrin-type 5	ZMAT5	55954	ENSG00000100319			Zmat5 (MGI:1914428)
chr22	29767369	29770413	22cen-q12	22q12.2	610843	UQCR10, UCRC	Ubiquinol-cytochrome C reductase, complex III subunit X	UQCR10	29796	ENSG00000184076			Uqcr10 (MGI:1913402)
chr22	29788611	29838274	22q12.2	22q12.2	614216	ASCC2, p100	Activating signal cointegrator 1 complex, subunit 2	ASCC2	84164	ENSG00000100325			Ascc2 (MGI:1922702)
chr22	29883174	30030868	22q12	22q12.2	603558	MTMR3	Myotubularin-related protein 3	MTMR3	8897	ENSG00000100330			Mtmr3 (MGI:1921552)
chr22	30077732	30207456	22q12.2	22q12.2	618842	HORMAD2	HORMA domain-containing protein 2	HORMAD2	150280	ENSG00000176635			Hormad2 (MGI:1923078)
chr22	30240453	30246759	22q12.1-q12.2	22q12.2	159540	LIF, HILDA	Leukemia inhibitory factor (cholinergic differentiation factor)	LIF	3976	ENSG00000128342	distal to ES		Lif (MGI:96787)
chr22	30262829	30266851	22q12.1-q12.2	22q12.2	165095	OSM	Oncostatin M	OSM	5008	ENSG00000099985	10kb from LIF		Osm (MGI:104749)
chr22	30285117	30289505	22q12.2	22q12.2	617034	CASTOR1, GATSL3	Cytosolic arginine sensor for mTORC1 subunit 1	CASTOR1	652968	ENSG00000239282			Castor1 (MGI:1919212)
chr22	30291990	30326941	22q12.1-qter	22q12.2	610020	TBC1D10A, EPI64	TBC1 domain family, member 10A	TBC1D10A	83874	ENSG00000099992			Tbc1d10a (MGI:2144164)
chr22	30331988	30356894	22q12.2	22q12.2	605595	SF3A1, SF3A120, SAP114, PRP21	Splicing factor 3A, subunit 1	SF3A1	10291	ENSG00000099995			Sf3a1 (MGI:1914715)
chr22	30356624	30378673	22q12.2	22q12.2	619391	CCDC157	Coiled-coil domain-containing protein 157	CCDC157	550631	ENSG00000187860			Ccdc157 (MGI:3041210)
chr22	30397018	30425303	22q12.1-qter	22q12.2	607558	SEC14L2, TAP, KIAA1186	SEC14-like lipid-binding protein 2	SEC14L2	23541	ENSG00000100003			Sec14l2 (MGI:1915065)
chr22	30425768	30429054	22q12.2	22q12.2	610235	MTFP1	Mitochondrial fission process 1	MTFP1	51537	ENSG00000242114			Mtfp1 (MGI:1916686)
chr22	30447661	30472017	22q12	22q12.2	612824	SEC14L3, TAP2	SEC14-like lipid-binding protein 3	SEC14L3	266629	ENSG00000100012			Sec14l3 (MGI:3617848)
chr22	30488902	30505695	22q12	22q12.2	612825	SEC14L4, TAP3	SEC14-like lipid-binding protein 4	SEC14L4	284904	ENSG00000133488			Sec14l4 (MGI:2144095)
chr22	30554635	30574665	22q12.2	22q12.2	602300	GAL3ST1, CST	Galactose-3-O-sulfotransferase 1	GAL3ST1	9514	ENSG00000128242			Gal3st1 (MGI:1858277)
chr22	30576625	30607013	22q12.1	22q12.2	605819	PES1, PES	Pescadillo ribosomal biogenesis factor 1	PES1	23481	ENSG00000100029			Pes1 (MGI:1890613)
chr22	30607174	30627271	22q11.2-qter	22q12.2	613441	TCN2, TC2	Transcobalamin II	TCN2	6948	ENSG00000185339	linked to P1	Transcobalamin II deficiency, 275350 (3), Autosomal recessive	Tcn2 (MGI:98534)
chr22	30652051	30667875	22q12.2	22q12.2	611446	DUSP18	Dual-specificity phosphatase 18	DUSP18	150290	ENSG00000167065			Dusp18 (MGI:1922469)
chr22	30693782	30907813	22q12	22q12.2	606729	OSBP2, ORP4, KIAA1664	Oxysterol-binding protein 2	OSBP2	23762	ENSG00000184792			Osbp2 (MGI:1921559)
chr22	30925130	30968774	22q12.2	22q12.2	616661	MORC2, ZCW3, ZCWCC1, KIAA0852, CMT2Z, DIGFAN	MORC family CW-type zinc finger protein 2	MORC2	22880	ENSG00000133422		Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3), Autosomal dominant; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, 619090 (3), Autosomal dominant	Morc2a,Morc2b (MGI:1921772,MGI:3045293)
chr22	30969265	30979395	22q12.2	22q12.2	614971	TUG1	Taurine-upregulated gene 1, noncoding	TUG1	55000	ENSG00000253352			Tug1 (MGI:2144114)
chr22	31064118	31104624	22q12.3	22q12.2	602127	SMTN	Smoothelin	SMTN	6525	ENSG00000183963			Smtn (MGI:1354727)
chr22	31104777	31107568	22q12.2	22q12.2	610918	SELENOM, SELM, SEPM	Selenoprotein M	SELENOM	140606	ENSG00000198832			Selenom (MGI:2149786)
chr22	31122614	31134697	22q11.2-q13.2	22q12.2	606481	INPP5J, PIB5PA, PIPP	Inositol polyphosphate-5-phosphatase J	INPP5J	27124	ENSG00000185133			Inpp5j (MGI:2158663)
chr22	31134807	31140508	22q11.2-q13.2	22q12.2	611651	PLA2G3, SPLA2III	Phospholipase A2, group III	PLA2G3	50487	ENSG00000100078			Pla2g3 (MGI:2444945)
chr22	31160182	31207019	22q12.2	22q12.2	620096	RNF185	RING finger protein 185	RNF185	91445	ENSG00000138942			Rnf185 (MGI:1922078)
chr22	31212298	31280080	22q12.2	22q12.2	601988	LIMK2	LIM domain kinase 2	LIMK2	3985	ENSG00000182541			Limk2 (MGI:1197517)
chr22	31281593	31292534	22q12.2	22q12.2	619158	PIK3IP1	Phosphatidylinositol 3-kinase-interacting protein 1	PIK3IP1	113791	ENSG00000100100			Pik3ip1 (MGI:1917016)
chr22	31325804	31346346	22q12	22q12.2	605165	ZNF278, PATZ, MAZR	Zinc finger protein-278	PATZ1	23598	ENSG00000100105			Patz1 (MGI:1891832)
chr22	31399604	31434452	22q12.2	22q12.2	603952	DRG1, NEDD3, TANALS	Developmentally regulated GTP-binding protein 1	DRG1	4733	ENSG00000185721		Tan-Almurshedi syndrome, 620641 (3), Autosomal recessive	Drg1 (MGI:1343297)
chr22	31436963	31493568	22q11.2	22q12.2	607445	EIF4ENIF1	Eukaryotic translation initiation factor 4E nuclear import factor 1	EIF4ENIF1	56478	ENSG00000184708			Eif4enif1 (MGI:1921453)
chr22	31496139	31618588	22q12.2	22q12.2	612765	SFI1, KIAA0542	SFI1 centrin-binding protein	SFI1	9814	ENSG00000198089			Sfi1 (MGI:1926137)
chr22	31618491	31662564	22q12	22q12.2	612770	PISD, PSD, PSSC, LIBF	Phosphatidylserine decarboxylase	PISD	23761	ENSG00000241878		Liberfarb syndrome, 618889 (3), Autosomal recessive	Pisd (MGI:2445114)
chr22	31681347	31750132	22q12.2	22q12.2	621035	PRR14L	Proline-rich 14-like protein	PRR14L	253143	ENSG00000183530			Prr14l (MGI:2443658)
chr22	31753968	31908033	22q12.2-q12.3	22q12.2-q12.3	614191	DEPDC5, KIAA0645, FFEVF1, DEE111	DEP domain-containing protein 5	DEPDC5	9681	ENSG00000100150		Epilepsy, familial focal, with variable foci 1, 604364 (3), Autosomal dominant; Developmental and epileptic encephalopathy 111, 620504 (3), Autosomal recessive	Depdc5 (MGI:2141101)
chr22	31800001	40600000	22q12.3-q13.1		607907	DFSP	Dermatofibrosarcoma protuberans				caused by fusion of COL1A1 (exons 25, 31, 46) and PDGFB (exon 2)	Dermatofibrosarcoma protuberans, 607907 (4), Isolated cases	
chr22	31800001	37200000	22q12.3		609558	HPC6	Prostate cancer, hereditary, 6		100188789		between D22S1265 and D22S277	{Prostate cancer, susceptibility to}, 609558 (2)	
chr22	31800001	40600000	22q12.3-q13.1		613689	MDNS	Mammary-digital-nail syndrome		100529148		max lod at D22S277, D22S1142, D22S683, D22S283	Mammary-digital-nail syndrome, 613689 (2), Autosomal dominant	
chr22	31944535	31957603	22q12	22q12.3	113508	YWHAH, YWHA1	Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 22	YWHAH	7533	ENSG00000128245			Ywhah (MGI:109194)
chr22	32043261	32113029	22q13.1	22q12.3	182380	SLC5A1, SGLT1	Solute carrier family 5 (sodium/glucose transporter), member 1	SLC5A1	6523	ENSG00000100170		Glucose/galactose malabsorption, 606824 (3), Autosomal recessive	Slc5a1 (MGI:107678)
chr22	32190438	32205073	22q12-q13	22q12.3	605969	RFPL2	RET finger protein-like 2	RFPL2	10739	ENSG00000128253			Rfpl4 (MGI:2149590)
chr22	32218464	32355063	22q12.3	22q12.3	618633	SLC5A4	Solute carrier family 5 (low-affinity glucose cotransporter), member 4	SLC5A4	6527	ENSG00000100191			Slc5a4a,Slc5a4b (MGI:1890478,MGI:1927848)
chr22	32354885	32361161	22q12-q13	22q12.3	605970	RFPL3	RET finger protein-like 3	RFPL3	10738	ENSG00000128276			Rfpl4 (MGI:2149590)
chr22	32359906	32371264	22q12-q13	22q12.3	605971	RFPL3S	Ret finger protein-like 3, antisense	RFPL3S	10737	ENSG00000205853			
chr22	32387582	32412247	22q12.3	22q12.3	613901	RTCB, C22orf28, HSPC117	RNA 2-prime, 3-prime cyclic phosphate and 5-prime-OH ligase	RTCB	51493	ENSG00000100220			Rtcb (MGI:106379)
chr22	32413845	32464446	22q13	22q12.3	614109	BPIFC, BPIL2	BPI fold-containing protein, family C	BPIFC	254240	ENSG00000184459			Bpifc (MGI:3026884)
chr22	32474811	32498829	22q12-q13	22q12.3	605648	FBXO7, FBX7, FBX, PKPS, PARK15	F-box only protein 7	FBXO7	25793	ENSG00000100225		Parkinson disease 15, autosomal recessive, 260300 (3), Autosomal recessive	Fbxo7 (MGI:1917004)
chr22	32507820	33058381	22q12.3	22q12.3	602705	SYN3	Synapsin III	SYN3	8224	ENSG00000185666	?relation to schizophrenia		Syn3 (MGI:1351334)
chr22	32801705	32863041	22q12.1-q13.2	22q12.3	188826	TIMP3, SFD	Tissue inhibitor of metalloproteinase-3	TIMP3	7078	ENSG00000100234		Sorsby fundus dystrophy, 136900 (3), Autosomal dominant	Timp3 (MGI:98754)
chr22	33066663	33922824	22q12.3-q13.1	22q12.3	603590	LARGE1, KIAA0609, MDC1D, MDDGA6, MDDGB6	Acetylglucosaminyltransferase-like protein	LARGE1	9215	ENSG00000133424		Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, 608840 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3), Autosomal recessive	Large1 (MGI:1342270)
chr22	35066158	35087387	22q12.3	22q12.3	612019	ISX, RAXLX	Intestine-specific homeobox	ISX	91464	ENSG00000175329			Isx (MGI:1918847)
chr22	35241536	35295807	22q13.1	22q12.3	604702	HMGXB4, HMG2L1	HMG box domain-containing 4	HMGXB4	10042	ENSG00000100281			Hmgxb4 (MGI:1918073)
chr22	35299275	35347973	22q13.1	22q12.3	604700	TOM1, IMD85	Target of MYB1 membrane trafficking protein	TOM1	10043	ENSG00000100284	mutation identified in 1 IMD85 family	?Immunodeficiency 85 and autoimmunity, 619510 (3), Autosomal dominant	Tom1 (MGI:1338026)
chr22	35381096	35394207	22q12	22q12.3	141250	HMOX1, HMOX1D	Heme oxygenase 1	HMOX1	3162	ENSG00000100292		Heme oxygenase-1 deficiency, 614034 (3), Autosomal recessive; {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)	Hmox1 (MGI:96163)
chr22	35400140	35455031	22q13.1	22q12.3	602696	MCM5, CDC46, MGORS8	Minichromosome maintenance complex component 5	MCM5	4174	ENSG00000100297	mutation identified in 1 MGORS8 patient	?Meier-Gorlin syndrome 8, 617564 (3), Autosomal recessive	Mcm5 (MGI:103197)
chr22	35532806	35553999	22q12.3	22q12.3	612842	RASD2, RHES, TEM2	RASD family, member 2	RASD2	23551	ENSG00000100302			Rasd2 (MGI:1922391)
chr22	35606764	35623354	22q11.2-q13	22q12.3	160000	MB, MYOSB	Myoglobin	MB	4151	ENSG00000198125		Myopathy, sarcoplasmic body, 620286 (3), Autosomal dominant	Mb (MGI:96922)
chr22	35648446	35668404	22q12.3	22q12.3	607256	APOL6	Apolipoprotein L6	APOL6	80830	ENSG00000221963			Apol6 (MGI:1919189)
chr22	35708424	35729483	22q12.3	22q12.3	607255	APOL5	Apolipoprotein L5	APOL5	80831	ENSG00000128313			
chr22	35738736	36028824	22q13.1	22q12.3	612149	RBFOX2, RBM9, FOX2, RTA	RNA binding protein, fox-1 homolog 2	RBFOX2	23543	ENSG00000100320			Rbfox2 (MGI:1933973)
chr22	36140323	36166177	22q12.3	22q12.3	607253	APOL3	Apolipoprotein L3	APOL3	80833	ENSG00000128284			Apol8 (MGI:2444921)
chr22	36189128	36204833	22q12.3	22q12.3	607254	APOL4	Apolipoprotein L4	APOL4	80832	ENSG00000100336		{Schizophrenia}, 181500 (1), Autosomal dominant	Apol8 (MGI:2444921)
chr22	36226209	36239954	22q12.3	22q12.3	607252	APOL2	Apolipoprotein L2	APOL2	23780	ENSG00000128335		{Schizophrenia}, 181500 (1), Autosomal dominant	Apol10a,Apol10b,Apol11b,Apol7a,Apol7b,Apol7c,Apol7e,Apol8,Apol9a,Apol9b (MGI:1919148,MGI:1920912,MGI:1923011,MGI:2444921,MGI:3036238,MGI:3036248,MGI:3043522,MGI:3583950,MGI:3606001,MGI:3704456)
chr22	36253133	36267525	22q12.3	22q12.3	603743	APOL1, FSGS4	Apolipoprotein L1	APOL1	8542	ENSG00000100342		{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3), Autosomal dominant	Apol10a,Apol10b,Apol11a,Apol11b,Apol8,Apol9a,Apol9b (MGI:1919148,MGI:2444921,MGI:3036238,MGI:3036248,MGI:3043522,MGI:3606001,MGI:3649094)
chr22	36281280	36387967	22q11.2	22q12.3	160775	MYH9, MHA, FTNS, DFNA17, BDPLT6, MATINS	Myosin, heavy polypeptide-9, nonmuscle	MYH9	4627	ENSG00000100345		Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3), Autosomal dominant; Deafness, autosomal dominant 17, 603622 (3), Autosomal dominant	Myh9 (MGI:107717)
chr22	36467046	36481640	22q12.3	22q12.3	609063	TXN2, TRX2, MTRX, COXPD29	Thioredoxin 2	TXN2	25828	ENSG00000100348	mutation identified in 1 COXPD29 patient	?Combined oxidative phosphorylation deficiency 29, 616811 (3), Autosomal recessive	Txn2 (MGI:1929468)
chr22	36487190	36507040	22q12.3	22q12.3	613777	FOXRED2, ERFAD	FAD-dependent oxidoreductase domain-containing protein 2	FOXRED2	80020	ENSG00000100350			Foxred2 (MGI:106315)
chr22	36510855	36529166	22q13.1	22q12.3	603915	EIF3D, EIF3S7	Eukaryotic translation initiation factor 3, subunit D	EIF3D	8664	ENSG00000100353			Eif3d (MGI:1933181)
chr22	36560857	36703752	22q13.1	22q12.3	602911	CACNG2, MRD10	Calcium channel, voltage-dependent, gamma-2 subunit (stargazin)	CACNG2	10369	ENSG00000166862	mutation identified one MRD10 patient	?Intellectual developmental disorder, autosomal dominant 10, 614256 (3), Autosomal dominant	Cacng2 (MGI:1316660)
chr22	36758211	36776119	22q12.3	22q12.3	615870	IFT27, RABL4, BBS19	Intraflagellar transport 27	IFT27	11020	ENSG00000100360		Bardet-Biedl syndrome 19, 615996 (3), Autosomal recessive	Ift27 (MGI:1914292)
chr22	36800703	36819499	22q12-q13.1	22q12.3	168890	PVALB	Parvalbumin	PVALB	5816	ENSG00000100362	?role in DiGeorge syndrome		Pvalb (MGI:97821)
chr22	36861006	36878015	22q13.1	22q12.3	601488	NCF4, P40PHOX, CGD3	Neutrophil cytosolic factor-4	NCF4	4689	ENSG00000100365		Chronic granulomatous disease 3, autosomal recessive, 613960 (3), Autosomal recessive	Ncf4 (MGI:109186)
chr22	36913628	36940439	22q12.2-q13.1	22q12.3	138981	CSF2RB, SMDP5	Colony-stimulating factor-2 receptor, beta, low-affinity	CSF2RB	1439	ENSG00000100368		Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3), Autosomal recessive	Csf2rb,Csf2rb2 (MGI:1339759,MGI:1339760)
chr22	36991125	37007851	22q12.3	22q12.3	620945	CIMIP4, TEX33	Ciliary microtubule inner protein 4	CIMIP4	339669	ENSG00000185264			Cimip4 (MGI:1920626)
chr22	37010859	37020183	22q11.2-qter	22q12.3	180370	TST, RDS	Thiosulfate sulfurtransferase (Rhodanese)	TST	7263	ENSG00000128311			Tst (MGI:98852)
chr22	37019742	37029815	22q11.2-qter	22q12.3	602496	MPST	Mercaptopyruvate sulfurtransferase	MPST	4357	ENSG00000128309			Mpst (MGI:2179733)
chr22	37051742	37063390	22q12.3	22q12.3	616386	KCTD17	Potassium channel tetramerization domain-containing protein 17	KCTD17	79734	ENSG00000100379		Dystonia 26, myoclonic, 616398 (3), Autosomal dominant	Kctd17 (MGI:1920094)
chr22	37065436	37110536	22q12-q13	22q12.3	609862	TMPRSS6, IRIDA	Transmembrane protease, serine 6 (matriptase 2)	TMPRSS6	164656	ENSG00000187045		Iron-refractory iron deficiency anemia, 206200 (3), Autosomal recessive	Tmprss6 (MGI:1919003)
chr22	37125838	37175118	22q11.2-q13	22q12.3	146710	IL2RB, IMD63	Interleukin-2 receptor, beta polypeptide	IL2RB	3560	ENSG00000100385		Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495 (3), Autosomal recessive	Il2rb (MGI:96550)
chr22	37180166	37199423	22q12.3	22q12.3	614910	C1QTNF6, CTFP6	C1q- and tumor necrosis factor-related protein 6	C1QTNF6	114904	ENSG00000133466			C1qtnf6 (MGI:1919959)
chr22	37200001	50818468	22q13		615538	DUP22q13, C22DUPq13	Chromosome 22q13 duplication syndrome					Chromosome 22q13 duplication syndrome, 615538 (4), Isolated cases	
chr22	37200001	50818468	22q13		613282	FLD1, NAFLD1	Fatty liver disease, susceptibility to, 1		100380876		associated with rs738409	{Fatty liver disease, susceptibility to, 1}, 613282 (2), Multifactorial	
chr22	37200001	50818468	22q13		610873	MENAQ1	Menarche, age at, QTL 1		100188822		max lod at UT7136	{Menarche, age at, QTL}, 610873 (2)	
chr22	37200001	50818468	22q13		612417	NRCLP4	Narcolepsy 4		100216484		associated with rs5770917	{Narcolepsy 4}, 612417 (2)	
chr22	37204237	37220548	22q13.1	22q13.1	182453	SSTR3	Somatostatin receptor-3	SSTR3	6753	ENSG00000278195			Sstr3 (MGI:98329)
chr22	37225270	37244269	22q12.3-q13.2	22q13.1	602049	RAC2, IMD73A, IMD73B, IMD73C	Rac family small GTPase 2	RAC2	5880	ENSG00000128340	mutation identified in 1 IMD73C family	Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis, 608203 (3), Autosomal dominant; ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia, 618987 (3), Autosomal recessive; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia, 618986 (3), Autosomal dominant	Rac2 (MGI:97846)
chr22	37282508	37315341	22q12.3-q13.1	22q13.1	606514	CYTH4, PSCD4, CYT4	Cytohesin 4	CYTH4	27128	ENSG00000100055			Cyth4 (MGI:2441702)
chr22	37340644	37427479	22q13	22q13.1	620223	ELFN2, LRRC62, PPP1R29	Extracellular leucine-rich repeat and fibronectin type III domain-containing protein 2	ELFN2	114794	ENSG00000166897			Elfn2 (MGI:3608416)
chr22	37469063	37486384	22q12	22q13.1	602577	MFNG	Manic fringe	MFNG	4242	ENSG00000100060			Mfng (MGI:1095404)
chr22	37490362	37519415	22q13.1	22q13.1	607209	CARD10, CARMA3, BIMP1, IMD89	Caspase recruitment domain-containing protein 10	CARD10	29775	ENSG00000100065	mutation identifed in 1 IMD89 family	?Immunodeficiency 89 and autoimmunity, 619632 (3), Autosomal recessive	Card10 (MGI:2146012)
chr22	37560480	37569405	22q13.1	22q13.1	606084	CDC42EP1, MSE55, BORG5, CEP1	CDC42 effector protein 1	CDC42EP1	11135	ENSG00000128283			Cdc42ep1 (MGI:1929763)
chr22	37570248	37580087	22q13.1	22q13.1	150571	LGALS2	Lectin, galactoside-binding, soluble, 2	LGALS2	3957	ENSG00000100079		{Myocardial infarction, susceptibility to}, 608446 (3)	Lgals2 (MGI:895068)
chr22	37608834	37633564	22q13.31	22q13.1	606004	GGA1	Golgi associated, gamma adaptin ear containing, ARF binding protein 1	GGA1	26088	ENSG00000100083			Gga1 (MGI:2146207)
chr22	37639669	37656117	22q13.1	22q13.1	617368	SH3BP1, ARHGAP43, BGIN	SH3 domain-binding protein 1	SH3BP1	23616	ENSG00000100092			Sh3bp1 (MGI:104603)
chr22	37658723	37666932	22q13.1	22q13.1	609246	PDXP, CIN	Pyridoxal phosphatase	PDXP	57026	ENSG00000241360			Pdxp (MGI:1919282)
chr22	37675636	37679802	22q12-q13.1	22q13.1	150570	LGALS1	Lectin, galactose-binding, soluble, 1	LGALS1	3956	ENSG00000100097			Lgals1 (MGI:96777)
chr22	37697048	37776556	22q13.1	22q13.1	609761	TRIOBP, KIAA1662	Trio- and F-actin-binding protein	TRIOBP	11078	ENSG00000100106		Deafness, autosomal recessive 28, 609823 (3), Autosomal recessive	Triobp (MGI:1349410)
chr22	37805229	37807432	22q13.1	22q13.1	142708	H1F0, H1FV	H1 histone family, member 0	H1-0	3005	ENSG00000189060			H1f0 (MGI:95893)
chr22	37807934	37817183	22q12-q13	22q13.1	607422	GCAT, KBL	Glycine C-acetyltransferase	GCAT	23464	ENSG00000100116			Gcat (MGI:1349389)
chr22	37823382	37825485	22q13.1	22q13.1	603692	GALR3	Galanin receptor 3	GALR3	8484	ENSG00000128310			Galr3 (MGI:1329003)
chr22	37830855	37849341	22q13.1	22q13.1	613383	ANKRD54, LIAR	Ankyrin repeat domain-containing protein 54	ANKRD54	129138	ENSG00000100124			Ankrd54 (MGI:2444209)
chr22	37847678	37847774	22q13.1	22q13.1	613556	MIR659	Micro RNA 659	MIR659	724029	ENSG00000207696			
chr22	37849419	37889407	22q13.1	22q13.1	619197	EIF3L, HSPC021	Eukaryotic translation initiation factor 3, subunit L	EIF3L	51386	ENSG00000100129			Eif3l (MGI:2386251)
chr22	37906297	37942822	22q13.1	22q13.1	619563	MICALL1	MICAL-like protein 1	MICALL1	85377	ENSG00000100139			Micall1 (MGI:105870)
chr22	37943050	37953669	22q13.1	22q13.1	619678	C22orf23	Chromosome 22 open reading frame 23	C22orf23	84645	ENSG00000128346			1700088E04Rik (MGI:1920774)
chr22	37953663	38041915	22q13.1	22q13.1	604414	POLR2F	Polymerase II, RNA, subunit F	POLR2F	5435	ENSG00000100142			Polr2f (MGI:1349393)
chr22	37972312	37984555	22q13	22q13.1	602229	SOX10, WS4, WS4C, PCWH	SRY (sex-determining region Y)-box-10	SOX10	6663	ENSG00000100146	megacolon and spotting in mice	Waardenburg syndrome, type 4C, 613266 (3), Autosomal dominant; PCWH syndrome, 609136 (3), Autosomal dominant; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3), Autosomal dominant	Sox10 (MGI:98358)
chr22	38057255	38075701	22q12.3-q13.2	22q13.1	605926	PICK1, PRKCABP	Protein interacting with C kinase 1	PICK1	9463	ENSG00000100151			Pick1 (MGI:894645)
chr22	38078137	38084184	22q12.3-q13.2	22q13.1	610409	SLC16A8, MCT3	Solute carrier family 16 (monocarboxylic acid transporter), member 8	SLC16A8	23539	ENSG00000100156			Slc16a8 (MGI:1929519)
chr22	38084900	38110967	22q13.1	22q13.1	617536	BAIAP2L2, PINKBAR	Bai1-associated protein 2-like 2	BAIAP2L2	80115	ENSG00000128298			Baiap2l2 (MGI:2652819)
chr22	38111495	38181830	22q13.1	22q13.1	603604	PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14	Phospholipase A2, group VI	PLA2G6	8398	ENSG00000184381		Parkinson disease 14, autosomal recessive, 612953 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 2B, 610217 (3), Autosomal recessive; Infantile neuroaxonal dystrophy 1, 256600 (3), Autosomal recessive	Pla2g6 (MGI:1859152)
chr22	38201994	38216511	22q12.2-q13.2	22q13.1	604877	MAFF	MAF bZIP transcription factor F	MAFF	23764	ENSG00000185022			Maff (MGI:96910)
chr22	38290691	38318084	22q12-q13	22q13.1	600863	CSNK1E	Casein kinase-1, epsilon	CSNK1E	1454	ENSG00000213923			Csnk1e (MGI:1351660)
chr22	38426327	38455199	22q13.1	22q13.1	600504	KCNJ4, HIR	Potassium inwardly-rectifying channel, subfamily J, member 4	KCNJ4	3761	ENSG00000168135			Kcnj4 (MGI:104743)
chr22	38468096	38483447	22q13.1	22q13.1	619900	KDELR3, ERD23	KDEL endoplasmic reticulum protein retention receptor 3	KDELR3	11015	ENSG00000100196			Kdelr3 (MGI:2145953)
chr22	38483438	38506311	22q13.1	22q13.1	608469	DDX17, RH70, P72	DEAD-box helicase 17	DDX17	10521	ENSG00000100201			Ddx17 (MGI:1914290)
chr22	38509147	38570183	22q13.1	22q13.1	602721	DMC1, LIM15	DNA meiotic recombinase 1	DMC1	11144	ENSG00000100206			Dmc1 (MGI:105393)
chr22	38656638	38673850	22q12-q13	22q13.1	607757	CBY1, C22orf2	Chibby family, member 1	CBY1	25776	ENSG00000100211			Cby1 (MGI:1920989)
chr22	38681957	38685421	22q12-q13	22q13.1	607046	TOMM22, TOM22	Translocase of outer mitochondrial membrane 22	TOMM22	56993	ENSG00000100216			Tomm22 (MGI:2450248)
chr22	38685543	38701403	22q13.1	22q13.1	615323	JOSD1, KIAA0063	Josephin domain-containing protein 1	JOSD1	9929	ENSG00000100221			Josd1 (MGI:1921408)
chr22	38705944	38743115	22q12-q13.1	22q13.1	602245	GTPBP1, GP1, NEDFET1	GTP-binding protein 1	GTPBP1	9567	ENSG00000100226		Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, 620888 (3), Autosomal recessive	Gtpbp1 (MGI:109443)
chr22	38734734	38755998	22q12-q13	22q13.1	613569	SUN2, UNC84B, KIAA0668	SAD1 and UNC84 domain-containing protein 2	SUN2	25777	ENSG00000100242			Sun2 (MGI:2443011)
chr22	38778508	38794143	22q13.1	22q13.1	610565	DNAL4, MRMV3	Dynein, axonemal, light chain 4	DNAL4	10126	ENSG00000100246	mutation identified in 1 MRMV3 family	?Mirror movements 3, 616059 (3), Autosomal recessive	Dnal4 (MGI:1859217)
chr22	38818452	38844028	22q13.1	22q13.1	609474	NPTXR	Neuronal pentrasin receptor	NPTXR	23467	ENSG00000221890			Nptxr (MGI:1920590)
chr22	38861422	38872216	22q13.1	22q13.1	617438	CBX6	Chromobox 6	CBX6	23466	ENSG00000183741			Cbx6 (MGI:3512628)
chr22	38957609	38963184	22q13	22q13.1	607109	APOBEC3A, PHRBN	Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (phorbolin 1)	APOBEC3A	200315	ENSG00000128383			
chr22	38982347	38992779	22q13	22q13.1	607110	APOBEC3B, PHRBNL	Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	APOBEC3B	9582	ENSG00000179750			Apobec3 (MGI:1933111)
chr22	39014257	39020352	22q13	22q13.1	607750	APOBEC3C	Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3C	APOBEC3C	27350	ENSG00000244509			Apobec3 (MGI:1933111)
chr22	39021127	39033277	22q13.1	22q13.1	609900	APOBEC3D	Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3D	APOBEC3D	140564	ENSG00000243811			Apobec3 (MGI:1933111)
chr22	39040864	39055972	22q12-q13.2	22q13.1	608993	APOBEC3F	Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3F	APOBEC3F	200316	ENSG00000128394			Apobec3 (MGI:1933111)
chr22	39077005	39087743	22q12-q13.2	22q13.1	607113	APOBEC3G, MDS019, CEM15, FLJ12740	Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3G	APOBEC3G	60489	ENSG00000239713			Apobec3 (MGI:1933111)
chr22	39097244	39104067	22q13.1	22q13.1	610976	APOBEC3H, ARP10	Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	APOBEC3H	164668	ENSG00000100298			
chr22	39130772	39152680	22q13.1	22q13.1	608457	CBX7	Chromobox 7	CBX7	23492	ENSG00000100307			Cbx7 (MGI:1196439)
chr22	39223359	39244982	22q12.3-q13.1	22q13.1	190040	PDGFB, SIS, IBGC5	Platelet-derived growth factor, beta polypeptide (oncogene SIS)	PDGFB	5155	ENSG00000100311	fused with COL1A1 in DFSP	Meningioma, SIS-related, 607174 (3), Autosomal dominant; Basal ganglia calcification, idiopathic, 5, 615483 (3), Autosomal dominant	Pdgfb (MGI:97528)
chr22	39312882	39319623	22q	22q13.1	604163	RPL3	Ribosomal protein L3	RPL3	6122	ENSG00000100316			Rpl3 (MGI:1351605)
chr22	39313819	39313911	22q13	22q13.1	611071	SNORD83B, RNU83B	Small nucleolar RNA, C/D box, 83B	SNORD83B	116938	ENSG00000209480			
chr22	39315213	39315307	22q13	22q13.1	611070	SNORD83A, RNU83A	Small nucleolar RNA, C/D box, 83A	SNORD83A	116937	ENSG00000209482			
chr22	39316842	39316896	22q13	22q13.1	611069	RNU86	RNA, U86 small nucleolar	SNORD139	116936				
chr22	39319052	39319113	22q13	22q13.1	611068	SNORD43, RNU43	Small nucleolar RNA, C/D box, 43	SNORD43	26807	ENSG00000263764			
chr22	39349991	39385575	22q13	22q13.1	603925	SYNGR1	Synaptogyrin 1	SYNGR1	9145	ENSG00000100321			Syngr1 (MGI:1328323)
chr22	39399780	39437132	22q13.1	22q13.1	602615	TAB1, MAP3K7IP1	Tak1 (MAP3K7) binding protein 1	TAB1	10454	ENSG00000100324			Tab1 (MGI:1913763)
chr22	39457012	39492194	22q13.1	22q13.1	604621	MGAT3, GNT3	Beta-1,4-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	MGAT3	4248	ENSG00000128268			Mgat3 (MGI:104532)
chr22	39500100	39518132	22q13.1	22q13.1	615497	MIEF1, SMCR7L, MID51, OPA14	Mitochondrial elongation factor 1	MIEF1	54471	ENSG00000100335		Optic atrophy 14, 620550 (3), Autosomal dominant	Mief1 (MGI:2146020)
chr22	39520559	39522686	22q13.1	22q13.1	604064	ATF4, CREB2, TAXREB67	Activating transcription factor 4	ATF4	468	ENSG00000128272			Atf4 (MGI:88096)
chr22	39529093	39532748	22q13.1	22q13.1	610225	RPS19BP1, S19BP, MGC52010	Ribosomal protein S19 binding protein 1	RPS19BP1	91582	ENSG00000187051			Rps19bp1 (MGI:1913788)
chr22	39570753	39689735	22q13.1	22q13.1	608230	CACNA1I, KIAA1120, NEDSIS	Calcium channel, voltage-dependent, T type, alpha-1I subunit	CACNA1I	8911	ENSG00000100346		Neurodevelopmental disorder with speech impairment and with or without seizures, 620114 (3), Autosomal dominant	Cacna1i (MGI:2178051)
chr22	39893820	39973721	22q12-qter	22q13.1	604518	GRAP2, GRID	GRB2-related adaptor protein 2	GRAP2	9402	ENSG00000100351			Grap2 (MGI:1333842)
chr22	40044834	40335808	22q13.1	22q13.1	610740	TNRC6B, KIAA1093, GDSBA	Trinucleotide repeat-containing gene 6B	TNRC6B	23112	ENSG00000100354		Global developmental delay with speech and behavioral abnormalities, 619243 (3), Autosomal dominant	Tnrc6b (MGI:2443730)
chr22	40346500	40387527	22q13.1	22q13.1	608222	ADSL	Adenylosuccinate lyase	ADSL	158	ENSG00000239900	ade(-)I; bifunctional	Adenylosuccinase deficiency, 103050 (3), Autosomal recessive	Adsl (MGI:103202)
chr22	40370594	40410289	22q13.1	22q13.1	610440	SGSM3, RUTBC3, MAP, RUSC3	Small G protein signaling modulator 3	SGSM3	27352	ENSG00000100359			Sgsm3 (MGI:1916329)
chr22	40410289	40636719	22q13	22q13.1-q13.2	606078	MKL1, AMKL, MAL	Megakaryoblastic leukemia 1 gene	MRTFA	57591	ENSG00000196588	mutation identified in 1 IMD66 patient	?Immunodeficiency 66, 618847 (3), Autosomal recessive	Mrtfa (MGI:2384495)
chr22	40679484	40682812	22q13.3	22q13.2	601751	MCHR1, GPR24, SLC1	Melanin-concentrating hormone receptor 1	MCHR1	2847	ENSG00000128285			Mchr1 (MGI:2180756)
chr22	40769630	40819346	22q13	22q13.2	606795	SLC25A17, PMP34	Solute carrier family 25 (mitochondrial carrier), member 17 (peroxisomal membrane protein, 34kD)	SLC25A17	10478	ENSG00000100372			Slc25a17 (MGI:1342248)
chr22	40824535	40856639	22q13	22q13.2	606796	ST13, P48, HOP	Suppression of tumorigenicity 13	ST13	6767	ENSG00000100380			St13 (MGI:1917606)
chr22	40857148	40932815	22q13.31-q13.33	22q13.2	613553	XPNPEP3, APP3, NPHPL1	X-prolyl aminopeptidase 3	XPNPEP3	63929	ENSG00000196236		Nephronophthisis-like nephropathy 1, 613159 (3), Autosomal recessive	Xpnpep3 (MGI:2445217)
chr22	40859549	40862113	22q13.2	22q13.2	611336	DNAJB7, DJ5, HSC3	DNAJ/HSP40 homolog, subfamily B, member 7	DNAJB7	150353	ENSG00000172404			Dnajb7 (MGI:1914012)
chr22	40951378	40973309	22q13.2	22q13.2	603814	RBX1, ROC1	RING-box 1	RBX1	9978	ENSG00000100387			Rbx1,Rbx1-ps (MGI:1891829,MGI:3710517)
chr22	41092592	41180077	22q13	22q13.2	602700	EP300, RSTS2, MKHK2	E1A-binding protein, 300kD	EP300	2033	ENSG00000100393		Menke-Hennekam syndrome 2, 618333 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Rubinstein-Taybi syndrome 2, 613684 (3), Autosomal dominant	Ep300 (MGI:1276116)
chr22	41205312	41231271	22q13.3	22q13.2	611865	L3MBTL2, L3MBT	L3MBTL histone methyl-lysine-binding protein 2	L3MBTL2	83746	ENSG00000100395			L3mbtl2 (MGI:2443584)
chr22	41229513	41240931	22q13.2	22q13.2	616236	CHADL	Chondroadherin-like	CHADL	150356	ENSG00000100399			Chadl (MGI:3036284)
chr22	41244779	41302369	22q13.2	22q13.2	602362	RANGAP1	GTPase-activating protein, RAN, 1	RANGAP1	5905	ENSG00000100401			Rangap1 (MGI:103071)
chr22	41301525	41360147	22q13.2	22q13.2	618206	ZC3H7B, ROXAN1, KIAA1031	Zinc finger CCCH domain-containing protein 7B	ZC3H7B	23264	ENSG00000100403			Zc3h7b (MGI:1328310)
chr22	41367455	41399326	22q13	22q13.2	188595	TEF	Thyrotroph embryonic factor	TEF	7008	ENSG00000167074			Tef (MGI:98663)
chr22	41433494	41446801	22q13.1-q13.31	22q13.2	607396	TOB2, KIAA1663	Transducer of erbb2, 2	TOB2	10766	ENSG00000183864			Tob2 (MGI:1888525)
chr22	41459717	41468692	22q13.2	22q13.2	617846	PHF5A, SF3B7, SF3B14B	PHD finger protein 5A	PHF5A	84844	ENSG00000100410			Phf5a (MGI:2156864)
chr22	41469117	41528974	22q13.2	22q13.2	100850	ACO2, ICRD, OPA9	Aconitase 2	ACO2	50	ENSG00000100412	distal to Ph1 break	Optic atrophy 9, 616289 (3), Autosomal recessive, Autosomal dominant; Infantile cerebellar-retinal degeneration, 614559 (3), Autosomal recessive	Aco2 (MGI:87880)
chr22	41525799	41544606	22q13.2	22q13.2	619801	POLR3H, RPC8, KIAA1665	RNA polymerase III, subunit H	POLR3H	171568	ENSG00000100413			Polr3h (MGI:1926179)
chr22	41561010	41576666	22q13.2	22q13.2	617689	CSDC2, PIPPIN	Cold-shock domain-containing protein C2	CSDC2	27254	ENSG00000172346			Csdc2 (MGI:2146027)
chr22	41576900	41589840	22q13.1	22q13.2	601786	PMM1	Phosphomannomutase 1	PMM1	5372	ENSG00000100417			Pmm1 (MGI:1353418)
chr22	41598028	41621043	22q13.2	22q13.2	614637	DESI1, PPPDE2	Desumoylating isopeptidase 1	DESI1	27351	ENSG00000100418			Desi1 (MGI:106313)
chr22	41621295	41664041	22q11-q13	22q13.2	152690	XRCC6, G22P1, TLAA, Ku70	X-ray repair cross complementing	XRCC6	2547	ENSG00000196419	tight linkage to CYP2D		Xrcc6 (MGI:95606)
chr22	41673933	41690480	22q13.2	22q13.2	601304	NHP2L1	Non-histone chromosome protein 2, S. cerevisiae, like 1	SNU13	4809	ENSG00000100138	previously assigned to 12q24.3 by FISH		Snu13 (MGI:893586)
chr22	41699503	41799454	22q13	22q13.2	608797	MEI1, SPATA38, HYDM3	Meiotic double-stranded break formation protein 1	MEI1	150365	ENSG00000167077		Hydatidiform mole, recurrent, 3, 618431 (3), Autosomal recessive	Mei1 (MGI:3028590)
chr22	41800679	41832164	22q13	22q13.2	618788	CCDC134, OI22	Coiled-coil domain-containing protein 134	CCDC134	79879	ENSG00000100147		Osteogenesis imperfecta, type XXII, 619795 (3), Autosomal recessive	Ccdc134 (MGI:1923707)
chr22	41833105	41907305	22q13	22q13.2	600481	SREBF2	Sterol regulatory element binding transcription factor 2	SREBF2	6721	ENSG00000198911			Srebf2 (MGI:107585)
chr22	41900944	41901012	22q13.2	22q13.2	612156	MIR33A, MIRN33A	Micro RNA 33A	MIR33A	407039	ENSG00000207932			Mir33 (MGI:3619343)
chr22	41909543	41915074	22q13.2	22q13.2	617329	SHISA8	Shisa family, member 8	SHISA8	440829	ENSG00000234965			Shisa8 (MGI:2146080)
chr22	41922032	41926806	22q13.1-q13.31	22q13.2	606269	TNFRSF13C, BAFFR, CVID4	Tumor necrosis factor receptor superfamily, member 13C	TNFRSF13C	115650	ENSG00000159958		Immunodeficiency, common variable, 4, 613494 (3), Autosomal recessive	Tnfrsf13c (MGI:1919299)
chr22	41927196	41947152	22q13.31	22q13.2	610152	PANE1, C22orf18	Proliferation-associated nuclear element 1	CENPM	79019	ENSG00000100162			Cenpm (MGI:1913820)
chr22	41969443	41998221	22q13.2	22q13.2	608314	SEPT3, SEP3	Septin 3	SEPTIN3	55964	ENSG00000100167			Septin3 (MGI:1345148)
chr22	41998788	42058371	22q13.2	22q13.2	610981	WBP2NL, PAWP	WWBP2 N-terminal-like protein	WBP2NL	164684	ENSG00000183066			Wbp2nl (MGI:1921966)
chr22	42058334	42070842	22q11	22q13.2	104170	NAGA	Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)	NAGA	4668	ENSG00000198951	proximal to Ph1 break	Schindler disease, type I, 609241 (3), Autosomal recessive; Kanzaki disease, 609242 (3), Autosomal recessive; Schindler disease, type III, 609241 (3), Autosomal recessive	Naga (MGI:1261422)
chr22	42074248	42079438	22q13.2	22q13.2	614240	PHETA2, FAM109B, SES2, IPIP27B	PH domain-containing endocytic trafficking adaptor 2	PHETA2	150368	ENSG00000177096			Pheta2 (MGI:2443609)
chr22	42079700	42084284	22q13.2	22q13.2	615588	SMDT1, EMRE, C22orf32	Single-pass membrane protein with aspartate-rich tail 1	SMDT1	91689	ENSG00000183172			Smdt1 (MGI:1916279)
chr22	42085526	42090772	22q13.1	22q13.2	602138	NDUFA6, MC1DN33	NADH-ubiquinone oxidoreductase subunit A6	NDUFA6	4700	ENSG00000184983		Mitochondrial complex I deficiency, nuclear type 33, 618253 (3), Autosomal recessive	Ndufa6 (MGI:1914380)
chr22	42126499	42130810	22q13.1	22q13.2	124030	CYP2D6, CPD6, P450DB1	Cytochrome P450, subfamily IID, polypeptide 6	CYP2D6	1565	ENSG00000100197		{Codeine sensitivity}, 608902 (3), Autosomal recessive; {Debrisoquine sensitivity}, 608902 (3), Autosomal recessive	Cyp2d10,Cyp2d11,Cyp2d12,Cyp2d22,Cyp2d26,Cyp2d34,Cyp2d40,Cyp2d9 (MGI:1919004,MGI:1923529,MGI:1929474,MGI:2385022,MGI:88602,MGI:88603,MGI:88604,MGI:88606)
chr22	42160013	42343537	22q13.3	22q13.2	603107	TCF20, SPBP, AR1, DDVIBA	Transcription factor 20	TCF20	6942	ENSG00000100207		Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 (3), Autosomal dominant	Tcf20,Zfp957 (MGI:108399,MGI:2145729)
chr22	42380407	42437986	22q13.2	22q13.2	608740	NFAM1, CNAIP	NFAT activating protein with ITAM motif 1	NFAM1	150372	ENSG00000235568			Nfam1 (MGI:1921289)
chr22	42500579	42512560	22q13.2	22q13.2	607979	SERHL	Serine hydrolase-like, pseudogene	SERHL	94009	ENSG00000293485			
chr22	42508344	42519796	22q13.2	22q13.2	619449	RRP7A, MCPH28	Ribosomal RNA processing 7 homolog A	RRP7A	27341	ENSG00000189306	mutation identified in 1 MCPH28 family	?Microcephaly 28, primary, autosomal recessive, 619453 (3), Autosomal recessive	Rrp7a (MGI:1922028)
chr22	42553956	42574382	22q13.2	22q13.2	619045	SERHL2	Serine hydrolase-like 2	SERHL2	253190	ENSG00000183569			Serhl (MGI:1890404)
chr22	42583721	42614883	22q13.2	22q13.2	611520	POLDIP3, SKAR, PDIP46	Polymerase delta-interacting protein 3	POLDIP3	84271	ENSG00000100227			Poldip3 (MGI:1921076)
chr22	42615244	42615393	22q13.2	22q13.2	620204	RNU12, SCAR33, CDAGS	RNA, U12 small nuclear	RNU12	267010	ENSG00000276027	mutation identified in 1 SCAR33 family	CDAGS syndrome, 603116 (3), Autosomal recessive; ?Spinocerebellar ataxia, autosomal recessive 33, 620208 (3), Autosomal recessive	
chr22	42617840	42649392	22q13.31-qter	22q13.2	613213	CYB5R3, DIA1, B5R	Cytochrome b5 reductase 3	CYB5R3	1727	ENSG00000100243		Methemoglobinemia, type I, 250800 (3), Autosomal recessive; Methemoglobinemia, type II, 250800 (3), Autosomal recessive	Cyb5r3 (MGI:94893)
chr22	42692121	42721301	22q13.2	22q13.2	607922	A4GALT, P1PK	Alpha 1,4-galactosyltransferase	A4GALT	53947	ENSG00000128274		[Blood group, P1Pk system, P(2) phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3); [Blood group, P1Pk system, p phenotype], 111400 (3)	A4galt (MGI:3512453)
chr22	42796502	42857273	22q13.2	22q13.2	612439	ARFGAP3	ADP-ribosylation factor GTPase-activating protein 3	ARFGAP3	26286	ENSG00000242247			Arfgap3 (MGI:1913501)
chr22	42869766	43015149	22q13.2	22q13.2	604960	PACSIN2	Protein kinase C and casein kinase substrate in neurons 2	PACSIN2	11252	ENSG00000100266			Pacsin2 (MGI:1345153)
chr22	43039516	43089391	22q13.1	22q13.2	608955	TTLL1, KIAA0173	Tubulin tyrosine ligase-like 1	TTLL1	25809	ENSG00000100271			Ttll1 (MGI:2443047)
chr22	43110750	43129712	22q13.3	22q13.2	603392	BIK, NBK	Bcl2-interacting killer	BIK	638	ENSG00000100290			Bik (MGI:1206591)
chr22	43132206	43143398	22q13.31	22q13.2	614479	MCAT, OPA15	Malonyl CoA:ACP acyltransferase, mitochondrial	MCAT	27349	ENSG00000100294		Optic atrophy 15, 620583 (3), Autosomal recessive	Mcat (MGI:2388651)
chr22	43151559	43163242	22q13.31	22q13.2	109610	TSPO, BZRP, PBR, PBS, BPBS	Translocator protein, 18kD (benzodiazepine receptor, peripheral type)	TSPO	706	ENSG00000100300			Tspo (MGI:88222)
chr22	43166622	43187134	22q13.2	22q13.2	619410	TTLL12	Tubulin tyrosine ligase-like 12	TTLL12	23170	ENSG00000100304			Ttll12 (MGI:3039573)
chr22	43197280	43343372	22q13	22q13.2	611746	SCUBE1	Signal peptide-, CUB domain-, and EGF-like domains-containing protein 1	SCUBE1	80274	ENSG00000159307			Scube1 (MGI:1890616)
chr22	43412014	43507848	22q13.31	22q13.2	602112	MPPED1, C22orf1, 239AB	Metallophosphoesterase domain-containing protein 1	MPPED1	758	ENSG00000186732			Mpped1 (MGI:106316)
chr22	43528778	43812305	22q13.2-q13.31	22q13.2-q13.31	619664	EFCAB6, KIAA1672, DJBP	EF-hand calcium binding domain 6	EFCAB6	64800	ENSG00000186976			Efcab6 (MGI:1924877)
chr22	43824509	43862513	22q13.31	22q13.31	608359	SULT4A1, BRSTL1	Sulfotransferase family 4A, member 1	SULT4A1	25830	ENSG00000130540			Sult4a1 (MGI:1888971)
chr22	43879678	43892013	22q13.31	22q13.31	611589	PNPLA5, GS2L	Patatin-like phospholipase domain-containing 5	PNPLA5	150379	ENSG00000100341			Pnpla5 (MGI:1923022)
chr22	43923805	43947582	22q13	22q13.31	609567	PNPLA3, ADPN	Patatin-like phospholipase domain-containing protein 3	PNPLA3	80339	ENSG00000100344			Pnpla3 (MGI:2151796)
chr22	43955442	43996529	22q13.31	22q13.31	612058	SAMM50, SAM50	SAMM50 sorting ans assembly machinery component	SAMM50	25813	ENSG00000100347			Samm50 (MGI:1915903)
chr22	43999211	44172939	22q13.31	22q13.31	608121	PARVB	Parvin, beta	PARVB	29780	ENSG00000188677			Parvb (MGI:2153063)
chr22	44172951	44208469	22q13.31	22q13.31	608122	PARVG	Parvin, gamma	PARVG	64098	ENSG00000138964			Parvg (MGI:2158329)
chr22	44243665	44331714	22q13.31	22q13.31	620220	SHISAL1, KIAA1644	Shisa-like 1	SHISAL1	85352	ENSG00000138944			Shisal1 (MGI:1919551)
chr22	44492583	44498233	22q13.31	22q13.31	621006	RTL6, SIRH3, MART6	Retrotransposon GAG-like protein 6	RTL6	84247	ENSG00000188636			Rtl6 (MGI:2675858)
chr22	44668751	44737681	22q13.31	22q13.31	609406	PRR5, PP610	Proline-rich protein 5	PRR5	55615	ENSG00000186654			Prr5 (MGI:1924714)
chr22	44752575	44862784	22q13.31	22q13.31	609405	ARHGAP8, BPGAP1	GTPase-activating protein, RHO, 8	ARHGAP8	23779	ENSG00000241484			Arhgap8 (MGI:1920417)
chr22	44881162	45010005	22q13.31	22q13.31	616727	PHF21B, PHF4, BHC80L	PHD finger protein 21B	PHF21B	112885	ENSG00000056487			Phf21b (MGI:2443812)
chr22	45163925	45188017	22q13.3	22q13.31	604646	NUP50, NPAP60L, NPAP60	Nucleoporin, 50 kD	NUP50	10762	ENSG00000093000			Nup50,Nup50l (MGI:1351502,MGI:1925732)
chr22	45192244	45240894	22q13.31	22q13.31	619709	KIAA0930	KIAA0930 gene	KIAA0930	23313	ENSG00000100364			5031439G07Rik (MGI:2444899)
chr22	45284949	45295874	22q13.31	22q13.31	611559	UPK3A, UPK3, UPIII	Uroplakin 3A	UPK3A	7380	ENSG00000100373			Upk3a (MGI:98914)
chr22	45344063	45413599	22q13.31	22q13.31	608685	SMC1B, SMC1L2	Structural maintenance of chromosome 1B	SMC1B	27127	ENSG00000077935			Smc1b (MGI:2154049)
chr22	45413693	45432509	22q13.31	22q13.31	621115	RIBC2	RIB43A domain with coiled-coils protein 2	RIBC2	26150	ENSG00000128408			
chr22	45502883	45601135	22q13.3	22q13.31	135820	FBLN1	Fibulin 1	FBLN1	2192	ENSG00000077942		Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4), Autosomal dominant	Fbln1 (MGI:95487)
chr22	45671834	45845307	22q13	22q13.31	611150	ATXN10, SCA10	Ataxin 10	ATXN10	25814	ENSG00000130638	ATTCTn repeat in intron 9	Spinocerebellar ataxia 10, 603516 (3), Autosomal dominant	Atxn10 (MGI:1859293)
chr22	45920366	45977162	22q13	22q13.31	601967	WNT7B	Wingless-type MMTV integration site family, member-7B	WNT7B	7477	ENSG00000188064			Wnt7b (MGI:98962)
chr22	46085997	46113928	22q13.31	22q13.31	618216	MIRLET7BHG, LINC-PPARA	MIRLET7B host gene, noncoding	MIRLET7BHG	400931	ENSG00000197182			
chr22	46112749	46112822	22q13.31	22q13.31	612143	MIRLET7A3, LET7A3, MIRNLET7A3	Micro RNA let7a3	MIRLET7A3	406883	ENSG00000283990			Mirlet7c-2 (MGI:3619050)
chr22	46113686	46113768	22q13	22q13.31	611249	MIRLET7B, LET7B, MIRNLET7B	Micro RNA Let7B	MIRLET7B	406884	ENSG00000284520			Mirlet7b (MGI:2676794)
chr22	46150526	46243756	22q12-q13.1	22q13.31	170998	PPARA, PPAR	Peroxisome proliferator-activated receptor-alpha	PPARA	5465	ENSG00000186951			Ppara (MGI:104740)
chr22	46255663	46263343	22q13.3	22q13.31	604670	PKDREJ	Polycystic kidney disease and sea urchin REJ homolog-like	PKDREJ	10343	ENSG00000130943			Pkdrej (MGI:1338786)
chr22	46296870	46330810	22q13.31	22q13.31	607477	GTSE1	G2 and S-phase expressed 1	GTSE1	51512	ENSG00000075218			Gtse1 (MGI:1352755)
chr22	46335714	46357340	22q13	22q13.31	610230	TRMU, MTO2	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	TRMU	55687	ENSG00000100416		{Deafness, mitochondrial, modifier of}, 580000 (3), Mitochondrial; Liver failure, transient infantile, 613070 (3), Autosomal recessive	Trmu (MGI:1919276)
chr22	46361174	46537620	22q13.3	22q13.31	604523	CELSR1, LMPHM9	Cadherin EGF LAG seven-pass G-type receptor 1	CELSR1	9620	ENSG00000075275		Lymphatic malformation 9, 619319 (3), Autosomal dominant	Celsr1 (MGI:1100883)
chr22	46575744	46682756	22q13.31	22q13.31	613691	GRAMD4, KIAA0767, DIP	Gram domain-containing protein 4	GRAMD4	23151	ENSG00000075240			Gramd4 (MGI:2676308)
chr22	46684410	46738252	22q13	22q13.31	610307	CERK, KIAA1646	Ceramide kinase	CERK	64781	ENSG00000100422			Cerk (MGI:2386052)
chr22	46762650	47175699	22q13.31	22q13.31	616879	TBC1D22A, C22orf4	TBC1 domain family, member 22A	TBC1D22A	25771	ENSG00000054611			Tbc1d22a (MGI:1289265)
chr22	48489553	48751932	22q13.32	22q13.32	617499	FAM19A5, TAFA5	Family with sequence similarity 19, member A5, CC motif chemokine-like	TAFA5	25817	ENSG00000219438			Tafa5 (MGI:2146182)
chr22	49773278	49827873	22q13	22q13.33	604589	BRL	BR140-like gene	BRD1	23774	ENSG00000100425			Brd1 (MGI:1924161)
chr22	49852850	49890080	22q13.33	22q13.33	612552	ZBED4, KIAA0637	Zinc finger BED domain-containing protein 4	ZBED4	9889	ENSG00000100426			Zbed4 (MGI:2682302)
chr22	49859311	49918438	22q13.33	22q13.33	607144	ALG12, CDG1G	ALG12 alpha-1,6-mannosyltransferase	ALG12	79087	ENSG00000182858		Congenital disorder of glycosylation, type Ig, 607143 (3), Autosomal recessive	Alg12 (MGI:2385025)
chr22	49918634	49927537	22q13.33	22q13.33	607171	CRELD2	Cysteine-rich protein with EGF-like domains 2	CRELD2	79174	ENSG00000184164			Creld2 (MGI:1923987)
chr22	49960772	49964072	22q13.33	22q13.33	610580	PIM3	Oncogene PIM3	PIM3	415116	ENSG00000198355			Pim3 (MGI:1355297)
chr22	49991811	50012765	22q13	22q13.33	613414	IL17REL	Interleukin 17 receptor E-like	IL17REL	400935	ENSG00000188263			
chr22	50018575	50058298	22q13.33	22q13.33	619193	TTLL8	Tubulin tyrosine ligase-like 8	TTLL8	164714	ENSG00000138892			Ttll8 (MGI:1922902)
chr22	50059391	50085875	22q13.33	22q13.33	605908	MLC1, LVM, VL, MLC1	Modulator of VRAC current 1	MLC1	23209	ENSG00000100427		Megalencephalic leukoencephalopathy with subcortical cysts 1, 604004 (3), Autosomal recessive	Mlc1 (MGI:2157910)
chr22	50090006	50161687	22q13.33	22q13.33	605794	MOV10L1, SPGF73	MOV10-like RISC complex RNA helicase 1	MOV10L1	54456	ENSG00000073146	mutation identified in 1 SPGF73 family	?Spermatogenic failure 73, 619878 (3), Autosomal recessive	Mov10l1 (MGI:1891384)
chr22	50170731	50180295	22q13	22q13.33	608421	PANX2, PX2	Pannexin 2	PANX2	56666	ENSG00000073150			Panx2 (MGI:1890615)
chr22	50201011	50217616	22q13.33	22q13.33	607917	SELENOO, SELO	Selenoprotein O	SELENOO	83642	ENSG00000073169			Selenoo (MGI:1919007)
chr22	50217694	50245023	22q13.33	22q13.33	610053	TUBGCP6, GCP6, KIAA1669, MCCRP1	Tubulin-gamma complex-associated protein 6	TUBGCP6	85378	ENSG00000128159		Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3), Autosomal recessive	Tubgcp6 (MGI:2146071)
chr22	50245183	50251265	22q13.33	22q13.33	608544	HDAC10	Histone deacetylase 10	HDAC10	83933	ENSG00000100429			Hdac10 (MGI:2158340)
chr22	50252901	50261683	22q13.3	22q13.33	602399	MAPK12, SAPK3, ERK3	Mitogen-activated protein kinase 12 (Stress-activated protein kinase-3)	MAPK12	6300	ENSG00000188130			Mapk12 (MGI:1353438)
chr22	50263713	50270380	22q13.33	22q13.33	602898	MAPK11, PRKM11, SAPK2B	Mitogen-activated protein kinase 11	MAPK11	5600	ENSG00000185386			Mapk11 (MGI:1338024)
chr22	50274979	50307646	22q13.31-q13.33	22q13.33	604293	PLXNB2, MM1	Plexin B2	PLXNB2	23654	ENSG00000196576			Plxnb2 (MGI:2154239)
chr22	50309030	50327012	22q13.33	22q13.33	620562	DENND6B, FAM116B	DENN domain-containing protein 6B	DENND6B	414918	ENSG00000205593			Dennd6b (MGI:1916690)
chr22	50330774	50445090	22q13.33	22q13.33	610877	PPP6R2, SAPS2, PP6R2, KIAA0685	Protein phosphatase 6, regulatory subunit 2	PPP6R2	9701	ENSG00000100239			Ppp6r2 (MGI:1918724)
chr22	50445000	50475035	22q13.33	22q13.33	603560	SBF1, MTMR5, CMT4B3	SET-binding factor 1 (myotubularin-related protein 5)	SBF1	6305	ENSG00000100241		Charcot-Marie-Tooth disease, type 4B3, 615284 (3), Autosomal recessive	Sbf1 (MGI:1925230)
chr22	50481543	50486437	22q13.33	22q13.33	608682	ADM2	Adrenomedullin 2	ADM2	79924	ENSG00000128165			Adm2 (MGI:2675256)
chr22	50486859	50490648	22q13.33	22q13.33	606774	MIOX, ALDRL6	Myoinositol oxygenase	MIOX	55586	ENSG00000100253			Miox (MGI:1891725)
chr22	50508224	50524780	22q13.33	22q13.33	611230	NCAPH2, CAPH2	Non-SMC condensin II complex subunit H2	NCAPH2	29781	ENSG00000025770			Ncaph2 (MGI:1289164)
chr22	50523568	50526442	22q13	22q13.33	604272	SCO2, MC4DN2, MYP6	SCO2 cytochrome c oxidase assembly protein	SCO2	9997	ENSG00000284194		Myopia 6, 608908 (3), Autosomal dominant; Mitochondrial complex IV deficiency, nuclear type 2, 604377 (3), Autosomal recessive	Sco2 (MGI:3818630)
chr22	50525752	50530085	22q13.32-qter	22q13.33	131222	TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1	Thymidine phosphorylase	TYMP	1890	ENSG00000025708		Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3), Autosomal recessive	Tymp (MGI:1920212)
chr22	50545899	50551023	22q13.33	22q13.33	620521	KLHDC7B	Kelch domain-containing protein 7B	KLHDC7B	113730	ENSG00000130487			Klhdc7b (MGI:3648212)
chr22	50551112	50562919	22q13.33	22q13.33	615775	SYCE3	Synaptonemal complex central element protein 3	SYCE3	644186	ENSG00000217442			Syce3 (MGI:1922709)
chr22	50568861	50578612	22q13	22q13.33	601987	CPT1B	Carnitine palmitoyltransferase I, muscle	CPT1B	1375	ENSG00000205560			Cpt1b (MGI:1098297)
chr22	50578963	50582849	22q13	22q13.33	612395	CHKB, CHKL, CKEKB, EKB, MDCMC	Choline kinase, beta	CHKB	1120	ENSG00000100288		Muscular dystrophy, congenital, megaconial type, 602541 (3), Autosomal recessive	Chkb (MGI:1328313)
chr22	50600793	50613978	22q13	22q13.33	607755	MAPK8IP2, JIP2, IB2	Mitogen-activated protein kinase 8-interacting protein 2	MAPK8IP2	23542	ENSG00000008735			Mapk8ip2 (MGI:1926555)
chr22	50622754	50628152	22q13.31-qter	22q13.33	607574	ARSA	Arylsulfatase A	ARSA	410	ENSG00000100299		Metachromatic leukodystrophy, 250100 (3), Autosomal recessive	Arsa (MGI:88077)
chr22	50672823	50733212	22q13.3	22q13.33	606230	SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15	SH3 and multiple ankyrin repeat domains 3	SHANK3	85358	ENSG00000251322		Phelan-McDermid syndrome, 606232 (3), Autosomal dominant; {Schizophrenia 15}, 613950 (3), Autosomal dominant	Shank3 (MGI:1930016)
chr22	50738204	50745339	22q13.33	22q13.33	102480	ACR, SPGF87	Acrosin	ACR	49	ENSG00000100312	mutation identified in 1 SPGF87 family	?Spermatogenic failure 87, 620500 (3), Autosomal recessive	Acr (MGI:87884)
chr22	50767506	50783636	22q13.3	22q13.33	605413	RABL2B	RAB-like 2B	RABL2B	11158	ENSG00000079974			Rabl2 (MGI:1915958)
chrX	1	24900000	Xp22		304050	AIC	Aicardi syndrome		192		?in p22.31 with FDH as contiguous gene syndrome	Aicardi syndrome, 304050 (2), X-linked dominant	
chrX	1	24900000	Xp22		300870	ANIB5	Aneurysm, intracranial berry, 5		137587484			Aneurysm, intracranial berry, 5, 300870 (2)	
chrX	1	6100000	Xpter-p22.32		301780	ARSC2	Arylsulfatase C, f form		413		probably close to STS = ARSC1, or s form		
chrX	1	9600000	Xp22.3		300211	EMWX	Episodic muscle weakness, X-linked		10118			Episodic muscle weakness, X-linked, 300211 (2)	
chrX	1	9600000	Xp22.3		300406	FGS3	FG syndrome 3		93985			FG syndrome 3, 300406 (2), X-linked	
chrX	1	6100000	Xpter-p22.32		300221	HDPA	Hodgkin disease, susceptibility, pseudoautosomal		50829			{Hodgkin disease susceptibility, pseudoautosomal}, 300221 (2)	
chrX	1	24900000	Xp22		300273	MNG2	Multinodular goiter-2		59081			Goiter, multinodular, 2, 300273 (2), X-linked dominant	
chrX	1	9600000	Xp22.3		300650	OASD	Ocular albinism and sensorineural deafness		4941		?allelic to OA1	Ocular albinism with sensorineural deafness, 300650 (2), X-linked	
chrX	1	4400000	Xp22.33		313000	VSPA	Visuospatial/perceptual abilities		59332			[Visuospatial/perceptual abilities], 313000 (2), ?X-linked recessive; Turner syndrome-associated neurocognitive phenotype, 313000 (2), ?X-linked recessive	
chrX	1	9600000	Xp22.3		300428	XLID2, MRX2	Intellectual developmental disorder, X-linked 2					Intellectual developmental disorder, X-linked 2, 300428 (2), X-linked	
chrX	276356	303356	Xp22.33	Xp22.33	300974	PLCXD1	Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1	PLCXD1	55344	ENSG00000182378	in pseudoautosomal region		Plcxd1 (MGI:2685422)
chrX	304759	318796	Xp22.33	Xp22.33	300124	GTPBP6, PGPL	GTP-binding protein 6	GTPBP6	8225	ENSG00000178605			Gtpbp6 (MGI:1306825)
chrX	333933	386907	Xp22.33	Xp22.33	300339	PPP2R3B, PR48	Protein phosphatase 2, regulatory subunit B-double prime, beta	PPP2R3B	28227	ENSG00000167393			Ppp2r3d (MGI:1335093)
chrX	624344	659411	Xpter-p22.32	Xp22.33	312865	SHOX, GCFX, SS, PHOG	Short stature homeobox	SHOX	6473	ENSG00000185960	pseudoautosomal; ?gene causing short stature in Turner syndrome	Short stature, idiopathic familial, 300582 (3); Leri-Weill dyschondrosteosis, 127300 (3), Pseudoautosomal dominant; Langer mesomelic dysplasia, 249700 (3), Pseudoautosomal recessive	
chrX	1190490	1212649	Xp22.3	Xp22.33	300357	CRLF2, CRL2	Cytokine receptor-like factor 2	CRLF2	64109	ENSG00000205755	pseudoautosomal		
chrX	1268814	1325218	Xp22.32	Xp22.33	306250	CSF2RA, SMDP4	Colony-stimulating factor-2 receptor, alpha, low-affinity, granulocyte-macrophage	CSF2RA	1438	ENSG00000198223	order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen	Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3), Pseudoautosomal recessive	
chrX	1336785	1382689	Xp22.3	Xp22.33	308385	IL3RA	Interleukin-3 receptor, alpha subunit	IL3RA	3563	ENSG00000185291	same 190kb segment as CSF2RA		
chrX	1386152	1392113	Xp22.32	Xp22.33	300151	SLC25A6, ANT3	Solute carrier family 25 (mitochondrial carrier), member 6 (adenine nucleotide translocator-3, liver)	SLC25A6	293	ENSG00000169100	1st intron ~1.3Mb from Xqter; nonlyonized		
chrX	1403139	1453756	Xpter-p22.32	Xp22.33	300162	ASMTLX, ASTML	Acetylserotonin methyltransferase-like	ASMTL	8623	ENSG00000169093			
chrX	1462581	1537185	Xp22.3	Xp22.33	300525	P2RY8, P2Y8	Pyrimidinergic receptor P2Y, G protein-coupled, 8	P2RY8	286530	ENSG00000182162			
chrX	1591604	1602520	Xp22.32	Xp22.33	312095	AKAP17A, SFRS17A, DXYS155E, XE7	A kinase (PRKA) anchor protein 17A	AKAP17A	8227	ENSG00000197976	nonlyonizing		
chrX	1615059	1643081	Xpter-p22.32	Xp22.33	300015	ASMT, HIOMT	Acetylserotonin methyltransferase	ASMT	438	ENSG00000196433	pseudoautosomal		
chrX	2219506	2500976	Xp22.33	Xp22.33	301034	DHRSX, CDG1DD	Dehydrogenase/reductase, X-linked	DHRSX	207063	ENSG00000169084	in pseudoautosomal region	Congenital disorder of glycosylation, type 1DD, 301133 (3), Pseudoautosomal recessive	Dhrsx (MGI:2181510)
chrX	2486435	2500976	Xp22.33	Xp22.33	300178	ZBED1, ALTE, KIAA0785, TRAMP	Zinc finger BED domain-containing protein 1	ZBED1	9189	ENSG00000214717			
chrX	2691295	2741309	Xpter-p22.32	Xp22.33	313470	CD99, MIC2, MIC2X	CD99 antigen (MIC2 (monoclonal antibody 12E7))	CD99	4267	ENSG00000002586	distal to STS		
chrX	2752040	2816500	Xp22.33	Xp22.33	300879	XG, PBDX	XG glycoprotein	XG	7499	ENSG00000124343	nonlyonizing; spans pseudoautosomal boundary		
chrX	2828930	2882818	Xp22.3	Xp22.33	300198	GYG2, GN2	Glycogenin 2	GYG2	8908	ENSG00000056998			
chrX	2903972	2929339	Xp22.3	Xp22.33	300002	ARSD	Arylsulfatase D	ARSD	414	ENSG00000006756			
chrX	2934521	2968245	Xp22.3	Xp22.33	300180	ARSL, CDPX1, CDPXR	Arylsulfatase L	ARSL	415	ENSG00000157399	CDPX1 in contiguous gene syndrome with STS	Chondrodysplasia punctata, X-linked recessive, 302950 (3), X-linked recessive	
chrX	3006546	3034111	Xp22.3	Xp22.33	300586	ARSH	Arylsulfatase H	ARSH	347527	ENSG00000205667			
chrX	3040234	3112727	Xp22.3	Xp22.33	300003	ARSF	Arylsulfatase F	ARSF	416	ENSG00000062096			
chrX	3308565	3346652	Xp22.33	Xp22.33	300938	MXRA5	Matrix remodeling-associated protein 5	MXRA5	25878	ENSG00000101825			
chrX	3604340	3713649	Xp22.3	Xp22.33	300083	PRKX	Protein kinase, X-linked	PRKX	5613	ENSG00000183943			Prkx (MGI:1309999)
chrX	4400001	6100000	Xp22.32		314705	XGR, XG	XG/MIC2 regulator					[XG blood group system, Xg(a-) phenotype], 314700 (3)	
chrX	5890042	6228867	Xp22.33	Xp22.32-p22.31	300427	NLGN4X, NLGN4, KIAA1260, AUTSX2	Neuroligin 4, X-linked	NLGN4X	57502	ENSG00000146938		Intellectual developmental disorder, X-linked, 300495 (3), X-linked; {Autism susceptibility, X-linked 2}, 300495 (3), X-linked	Nlgn4l (MGI:3775191)
chrX	6533618	6535118	Xp22.3	Xp22.31	300533	VCX3A, VCX8R, VCXA	Variably charged, X chromosome, 3A	VCX3A	51481	ENSG00000169059			
chrX	6705838	7148153	Xp22.32	Xp22.31	306480	HDHD1A, DXF68S1E, GS1	Haloacid dehalogenase-like hydrolase domain-containing 1A	PUDP	8226	ENSG00000130021	escapes X-inactivation; 100kb telomeric to STS		Pudp (MGI:1914615)
chrX	7147290	7354641	Xp22.32	Xp22.31	300747	STS, ARSC1, ARSC, SSDD, XLI	Steroid sulfatase, microsomal (arylsulfatase C, isozyme S)	STS	412	ENSG00000101846	nonlyonizing	Ichthyosis, X-linked, 308100 (3), X-linked recessive	Sts (MGI:98438)
chrX	7842262	7844143	Xp22.3	Xp22.31	300229	VCX, VCXB1, VCX10R	Variably charged, X chromosome	VCX	26609	ENSG00000182583			
chrX	7898247	7927724	Xp22.3	Xp22.31	300102	DXS1283E	GS2 gene	PNPLA4	8228	ENSG00000006757			
chrX	8169944	8171267	Xp22.3	Xp22.31	300532	VCX2, VCX2R, VCXB	Variably charged, X chromosome, 2	VCX2	51480	ENSG00000177504			
chrX	8464830	8466510	Xp22.31	Xp22.31	300981	VCS3B, VCXC	Variably charged, X chromosome, 3B	VCX3B	425054	ENSG00000205642			
chrX	8528874	8732137	Xp22.31	Xp22.31	300836	ANOS1, KAL1, KMS, ADMLX, HH1	Anosmin 1	ANOS1	3730	ENSG00000011201	with ichthyosis in probable microdeletion syndrome	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3), X-linked recessive	
chrX	8790795	8801383	Xp22.33-p22.32	Xp22.31	300477	FAM9A	Family with sequence similarity 9, member A	FAM9A	171482	ENSG00000183304	pseudogene on Xq28, Yp11.31, 1p36.12, 8p11.1		
chrX	9024232	9034127	Xp22.32	Xp22.31	300478	FAM9B	Family with sequence similarity 9, member B	FAM9B	171483	ENSG00000177138			
chrX	9463295	9719740	Xp22.3	Xp22.31-p22.2	300196	TBL1X, TBL1, CHNG8	Transducin-beta-like 1, X-linked	TBL1X	6907	ENSG00000101849		Hypothyroidism, congenital, nongoitrous, 8, 301033 (3), X-linked	Tbl1x (MGI:1336172)
chrX	9600001	17400000	Xp22.2		302801	CMTX2	Charcot-Marie-Tooth disease, X-linked recessive, 2		1253			Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, 302801 (2), X-linked recessive	
chrX	9600001	17400000	Xp22.2		305435	HBFQTL3, FCP1, FCPX, FCP	Fetal hemoglobin quantitative trait locus 3		2221			Fetal hemoglobin quantitative trait locus 3, 305435 (2), X-linked	
chrX	9600001	17400000	Xp22.2		300355	XLID73, MRX73	Intellectual developmental disorder, X-linked 73		23694		between DXS8019 and DXS365	Intellectual developmental disorder, X-linked 73, 300355 (2), X-linked recessive	
chrX	9725346	9778602	Xp22.3	Xp22.2	300808	GPR143, OA1, NYS6	G protein-coupled receptor 143	GPR143	4935	ENSG00000101850	linked to XG	Ocular albinism, type I, Nettleship-Falls type, 300500 (3), X-linked; Nystagmus 6, congenital, X-linked, 300814 (3), X-linked recessive	Gpr143 (MGI:107193)
chrX	9786429	9949443	Xp22.3	Xp22.2	300103	SHROOM2, APXL	Shroom family member 2	SHROOM2	357	ENSG00000146950			Shroom2 (MGI:107194)
chrX	10015254	10144474	Xp22.2	Xp22.2	301089	WWC3	WWC family, member 3	WWC3	55841	ENSG00000047644			
chrX	10156975	10237660	Xp22.3	Xp22.2	302910	CLCN4, MRX49, MRX15, MRXSRC	Chloride channel-4	CLCN4	1183	ENSG00000073464		Raynaud-Claes syndrome, 300114 (3), X-linked dominant	Clcn4 (MGI:104571)
chrX	10445310	10833683	Xp22	Xp22.2	300552	MID1, OGS1, GBBB, FXY, OSX	Midline-1	MID1	4281	ENSG00000101871	type II defect on chr.22	Opitz GBBB syndrome, 300000 (3), X-linked recessive	Mid1 (MGI:1100537)
chrX	11111332	11123086	Xp22	Xp22.2	300056	HCCS, MCOPS7, LSDMCA1	Holocytochrome c synthase (cytochrome c heme-lyase)	HCCS	3052	ENSG00000004961		Linear skin defects with multiple congenital anomalies 1, 309801 (3), X-linked dominant	Hccs (MGI:106911)
chrX	11137544	11665920	Xp22.3	Xp22.2	300118	ARHGAP6	Rho GTPase-activating protein-6	ARHGAP6	395	ENSG00000047648			Arhgap6 (MGI:1196332)
chrX	11293413	11309588	Xp22.3-p22.1	Xp22.2	300391	AMELX, AMG, AIH1, AMGX, AI1E	Amelogenin	AMELX	265	ENSG00000125363	also Y	Amelogenesis imperfecta, type 1E, 301200 (3), X-linked dominant	Amelx (MGI:88005)
chrX	11758159	11775772	Xp22.3	Xp22.2	300609	MSL3, MSL3L1, MRXSBA	MSL complex subunit 3	MSL3	10943	ENSG00000005302		Basilicata-Akhtar syndrome, 301032 (3), X-linked dominant	Msl3 (MGI:1341851)
chrX	11822439	12724523	Xp22.2	Xp22.2	300838	FRMPD4, PRESO, KIAA0316, XLID104	FERM and PDZ domains-containing protein 4	FRMPD4	9758	ENSG00000169933		Intellectual developmental disorder, X-linked 104, 300983 (3), X-linked	Frmpd4 (MGI:3042378)
chrX	12791412	12824222	Xp22.3-p22.2	Xp22.2	311860	PRPS2	Phosphoribosyl pyrophosphate synthetase-2	PRPS2	5634	ENSG00000101911	between STS and ZFX		Prps2 (MGI:97776)
chrX	12867072	12890361	Xp22.3-p22.2	Xp22.2	300365	TLR7, IMD74, SLEB17	Toll-like receptor 7	TLR7	51284	ENSG00000196664	centromeric to TLR8	Immunodeficiency 74, COVID19-related, X-linked, 301051 (3), X-linked recessive; Systemic lupus erythematosus 17, 301080 (3), X-linked dominant	Tlr7 (MGI:2176882)
chrX	12906620	12923169	Xp22.3-p22.2	Xp22.2	300366	TLR8, IMD98	Toll-like receptor 8	TLR8	51311	ENSG00000101916	16kb telomeric to TLR7	Immunodeficiency 98 with autoinflammation, X-linked, 301078 (3), X-linked, Somatic mosaicism	Tlr8 (MGI:2176887)
chrX	12975110	12977223	Xq21.3-q22	Xp22.2	300159	TMSB4X, TMSB4, TB4X, PTMB4	Thymosin, beta-4, X chromosome	TMSB4X	7114	ENSG00000205542			Tmsb4x (MGI:99510)
chrX	13035617	13044620	Xp22.31	Xp22.2	300479	FAM9C	Family with sequence similarity 9, member C	FAM9C	171484	ENSG00000187268			
chrX	13318647	13320053	Xp22.2	Xp22.2	300920	ATXN3L	Ataxin 3-like	ATXN3L	92552	ENSG00000123594			
chrX	13569601	13633575	Xp22	Xp22.2	300239	EGFL6	Epidermal growth factor-like 6	EGFL6	25975	ENSG00000198759			Egfl6 (MGI:1858599)
chrX	13653141	13665409	Xp22.2	Xp22.2	301084	TCEANC	Transcription elongation factor A N-terminal and central domain-containing protein	TCEANC	170082	ENSG00000176896			Tceanc (MGI:2685236)
chrX	13689128	13710504	Xp22.2	Xp22.2	300284	RAB9	RAS-associated protein RAB9	RAB9A	9367	ENSG00000123595			Rab9 (MGI:1890695)
chrX	13712245	13734620	Xp22.2-p22.1	Xp22.2	300202	TRAPPC2, SEDL, SEDT	Trafficking protein particle complex 2 (sedlin)	TRAPPC2	6399	ENSG00000196459		Spondyloepiphyseal dysplasia tarda, 313400 (3), X-linked recessive	Trappc2,Trappc2b (MGI:1913300,MGI:1913476)
chrX	13714505	13773738	Xp22.3-p22.2	Xp22.2	300170	OFD1, CXorf5, SGBS2, JBTS10, RP23	OFD1 centriole and centriolar satellite protein	OFD1	8481	ENSG00000046651	mutation identified in 1 RP23 family	Simpson-Golabi-Behmel syndrome, type 2, 300209 (3), X-linked recessive; ?Retinitis pigmentosa 23, 300424 (3), X-linked recessive; Orofaciodigital syndrome I, 311200 (3), X-linked dominant; Joubert syndrome 10, 300804 (3), X-linked recessive	Ofd1 (MGI:1350328)
chrX	13770939	13938638	Xp22.2	Xp22.2	300051	GPM6B, M6B	Glycoprotein M6B	GPM6B	2824	ENSG00000046653			Gpm6b (MGI:107672)
chrX	13984185	14029892	Xp22.2	Xp22.2	300962	GEMIN8, FAM51A1	GEM nuclear organelle-associated protein 8	GEMIN8	54960	ENSG00000046647			Gemin8 (MGI:2384300)
chrX	14448779	14731812	Xp22.1-p21.2	Xp22.2	305990	GLRA2, MRXSP	Glycine receptor, alpha-2 polypeptide	GLRA2	2742	ENSG00000101958		Intellectual developmental disorder, X-linked syndromic, Pilorge type, 301076 (3), X-linked	Glra2 (MGI:95748)
chrX	14689524	14873069	Xp22.31	Xp22.2	300515	FANCB, FAAP95, FAAP90, FLJ34064	Fanconi anemia, complementation group B gene	FANCB	2187	ENSG00000181544		Fanconi anemia, complementation group B, 300514 (3), X-linked recessive	Fancb (MGI:2448558)
chrX	14873421	14922327	Xp22.2	Xp22.2	301086	MOSPD2	Motile sperm domain-containing protein 2	MOSPD2	158747	ENSG00000130150			Mospd2 (MGI:1924013)
chrX	15243987	15270467	Xp22.2	Xp22.2	300890	ASB9	Ankyrin repeat- and SOCS box-containing protein 9	ASB9	140462	ENSG00000102048			Asb9 (MGI:1916549)
chrX	15281697	15315640	Xp22.31	Xp22.2	300626	ASB11	Ankyrin repeat- and SOCS box-containing protein 11	ASB11	140456	ENSG00000165192			Asb11 (MGI:1916104)
chrX	15319451	15335554	Xp22.1	Xp22.2	311770	PIGA, PNH1, MCAHS2, NEDEPH	Phosphatidylinositol glycan, class A	PIGA	5277	ENSG00000165195	pseudogene on chr.12	Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3); Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3), X-linked recessive; Neurodevelopmental disorder with epilepsy and hemochromatosis, 301072 (3), X-linked recessive	Piga (MGI:99461)
chrX	15345596	15384413	Xp22.31	Xp22.2	300091	FIGF, VEGFD	c-fos induced growth factor (vascular endothelial growth factor D)	VEGFD	2277	ENSG00000165197			Vegfd (MGI:108037)
chrX	15384799	15493333	Xp22.2	Xp22.2	300931	PIR	Pirin	PIR	8544	ENSG00000087842			Pir (MGI:1916906)
chrX	15500807	15556519	Xp22.2	Xp22.2	300101	BMX	BMX non-receptor tyrosine kinase	BMX	660	ENSG00000102010			Bmx (MGI:1101778)
chrX	15518197	15607211	Xp22	Xp22.2	300335	ACE2, ACEH	Angiotensin I converting enzyme 2	ACE2	59272	ENSG00000130234			Ace2 (MGI:1917258)
chrX	15627318	15675644	Xp22.2	Xp22.2	300631	CLTRN, TMEM27, NX17	Collectrin, amino acid transport regulator	CLTRN	57393	ENSG00000147003			Cltrn (MGI:1926234)
chrX	15738270	15788411	Xp22.1	Xp22.2	300230	CA5B	Carbonic anhydrase VB, mitochondrial	CA5B	11238	ENSG00000169239			Car5b (MGI:1926249)
chrX	15785716	15787589	Xp22.2	Xp22.2	300165	INE2	Inactivation escape 2	INE2	8551	ENSG00000281371			
chrX	15790484	15823260	Xp22.1	Xp22.2	300028	ZRSR2, U2AF1RS2, OFD21	Zinc finger-, CCCH domain-, and RNA-binding motif-containing serine/arginine-rich protein 2	ZRSR2	8233	ENSG00000169249		Orofaciodigital syndrome XXI, 301132 (3), X-linked recessive	Zrsr2,Zrsr2-ps1 (MGI:103287,MGI:98885)
chrX	15825806	15854813	Xp22	Xp22.2	300629	AP1S2, MRX59, MRXSF, MRXS21, MRXS5, PGS	Adaptor-related protein complex 1, sigma-2 subunit	AP1S2	8905	ENSG00000182287		Pettigrew syndrome, 304340 (3), X-linked recessive	Ap1s2 (MGI:1889383)
chrX	16123565	16153518	Xp22.3-p21.2	Xp22.2	305670	GRPR	Gastrin-releasing peptide receptor	GRPR	2925	ENSG00000126010			Grpr (MGI:95836)
chrX	16167481	16171464	Xp21.3	Xp22.2	300763	MAGEB17	Melanoma antigen, family B, 17	MAGEB17	645864	ENSG00000182798			Gm5071,Mageb6b1 (MGI:3643982,MGI:3645128)
chrX	16587999	16712910	Xp22	Xp22.2	300380	CTPS2	Cytidine 5-prime triphosphate synthetase 2	CTPS2	56474	ENSG00000047230			Ctps2 (MGI:1933185)
chrX	16650158	16654670	Xp	Xp22.2	302020	CALB3, CABP9K	Calbindin 3 (vitamin D-dependent calcium-binding protein)	S100G	795	ENSG00000169906			S100g (MGI:104528)
chrX	16786466	16844519	Xp22.1	Xp22.2	300677	TXLNG, CXorf15, FIAT	Taxilin, gamma	TXLNG	55787	ENSG00000086712			Txlng (MGI:3590652)
chrX	16844341	16870362	Xp22.2	Xp22.2	300825	RBBP7, SPGFX9	Retinoblastoma-binding protein 7	RBBP7	5931	ENSG00000102054		Spermatogenic failure, X-linked, 9, 301137 (3)	Rbbp7 (MGI:1194910)
chrX	16946658	17196655	Xp22.2	Xp22.2	300317	REPS2, POB1	RALBP1-associated EPS domain-containing protein 2	REPS2	9185	ENSG00000169891			Reps2 (MGI:2663511)
chrX	17375200	17735994	Xp22.13	Xp22.2-p22.13	300457	NHS, CXN, CTRCT40	NHS actin remodeling regulator	NHS	4810	ENSG00000188158		Cataract 40, X-linked, 302200 (3), X-linked; Nance-Horan syndrome, 302350 (3), X-linked dominant	Nhs (MGI:2684894)
chrX	17737128	17754985	Xp22.2-p22.1	Xp22.13	300227	SCML1	SCM polycomb group protein-like 1	SCML1	6322	ENSG00000047634			
chrX	17800049	17861298	Xp22	Xp22.13	300217	RAI2	Retinoic acid-induced 2	RAI2	10742	ENSG00000131831			Rai2 (MGI:1344378)
chrX	18239313	18355118	Xp22	Xp22.13	300208	SCML2	SCM polycomb group protein-like 2	SCML2	10389	ENSG00000102098			Scml2 (MGI:1340042)
chrX	18425608	18653629	Xp22	Xp22.13	300203	CDKL5, STK9, ISSX, DEE2	Cyclin-dependent kinase-like 5 (serine/threonine protein kinase 9)	CDKL5	6792	ENSG00000008086		Developmental and epileptic encephalopathy 2, 300672 (3), X-linked dominant	Cdkl5 (MGI:1278336)
chrX	18639688	18672108	Xp22.2-p22.1	Xp22.13	300839	RS1, XLRS1	Retinoschisin	RS1	6247	ENSG00000102104	25cM from XG	Retinoschisis, 312700 (3), X-linked recessive	Rs1 (MGI:1336189)
chrX	18675067	18827917	Xp22.2-p22.1	Xp22.13	300109	PPEF1	Protein phosphatase, EF hand calcium-binding domain 1	PPEF1	5475	ENSG00000086717			Ppef1 (MGI:1097157)
chrX	18892298	18984114	Xp22.2-p22.1	Xp22.13	300798	PHKA2, PHK, XLG, PYKL, GSD9A	Phosphorylase kinase, liver, alpha-2 subunit	PHKA2	5256	ENSG00000044446		Glycogen storage disease, type IXa2, 306000 (3), X-linked recessive; Glycogen storage disease, type IXa1, 306000 (3), X-linked recessive	Phka2 (MGI:97577)
chrX	18989307	19122956	Xp21.3	Xp22.13	300572	ADGRG2, GPR64, HE6, CBAVDX	Adhesion G protein-coupled receptor G2	ADGRG2	10149	ENSG00000173698		Congenital bilateral absence of vas deferens, X-linked, 300985 (3), X-linked	Adgrg2 (MGI:2446854)
chrX	19343927	19361718	Xp22.2-p22.1	Xp22.12	300502	PDHA1, PHE1A, PDHAD	Pyruvate dehydrogenase E1, subunit alpha-1	PDHA1	5160	ENSG00000131828		Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3), X-linked dominant	Pdha1 (MGI:97532)
chrX	19360059	19515508	Xp22.12	Xp22.12	300820	MAP3K15, ASK3	Mitogen-activated protein kinase kinase kinase 15	MAP3K15	389840	ENSG00000180815			Map3k15 (MGI:2448588)
chrX	19533977	19887600	Xp22.1-p21.3	Xp22.12	300374	SH3KBP1, CIN85, IMD61, AGMX2	SH3-domain kinase-binding protein 1	SH3KBP1	30011	ENSG00000147010	mutation identified in 1 IMD61 family	?Immunodeficiency 61, 300310 (3), X-linked recessive	Sh3kbp1 (MGI:1889583)
chrX	20006713	20116907	Xp22.12	Xp22.12	301121	MAP7D2	MAP7 domain-containing protein 2	MAP7D2	256714	ENSG00000184368			Map7d2 (MGI:1917474)
chrX	20124525	20141838	Chr.X	Xp22.12	300186	EIF1A, EIF4C, EIF1AX	Eukaryotic translation initiation factor 1A	EIF1AX	1964	ENSG00000173674			Eif1a,Eif1ax (MGI:1913485,MGI:95298)
chrX	20149911	20267097	Xp22.2-p22.1	Xp22.12	300075	RPS6KA3, RSK2, XLID19	Ribosomal protein S6 kinase A3	RPS6KA3	6197	ENSG00000177189		Intellectual developmental disorder, X-linked 19, 300844 (3), X-linked dominant; Coffin-Lowry syndrome, 303600 (3), X-linked dominant	Rps6ka3 (MGI:104557)
chrX	21374418	21654689	Xp22.12	Xp22.12	300724	CNKSR2, CNK2, KIAA0902, MRXSHG	connector enhancer of KSR 2	CNKSR2	22866	ENSG00000149970		Intellectual developmental disorder, X-linked syndromic, Houge type, 301008 (3), X-linked	Cnksr2 (MGI:2661175)
chrX	21705978	21758116	Xp22.1	Xp22.12	300226	SMPX, DFNX4, MPD7	Small muscle protein, X-linked	SMPX	23676	ENSG00000091482		Myopathy, distal, 7, adult-onset, X-linked, 301075 (3), X-linked recessive; Deafness, X-linked 4, 300066 (3), X-linked dominant	Smpx (MGI:1913356)
chrX	21839617	21885423	Xp22.12-p22.11	Xp22.12	300294	MBTPS2, S2P, IFAP, KFSDX, OLMSX, OI19	Membrane-bound transcription factor protease, site 2	MBTPS2	51360	ENSG00000012174	mutation identified in 1 OLMSX family	Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3), X-linked recessive; Osteogenesis imperfecta, type XIX, 301014 (3), X-linked recessive; IFAP syndrome with or without BRESHECK syndrome, 308205 (3), X-linked recessive; ?Olmsted syndrome, X-linked, 300918 (3), X-linked recessive	Mbtps2 (MGI:2444506)
chrX	21855987	21858740	Xp22.2-p22.1	Xp22.12	300570	YY2, ZNF631	Transcription factor YY2	YY2	404281	ENSG00000230797			Yy2 (MGI:3837947)
chrX	21940709	21994837	Xp22.1	Xp22.11	300105	SMS, SRS, MRXSSR	Spermine synthase	SMS	6611	ENSG00000102172		Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, 309583 (3), X-linked recessive	Sms,Sms-ps (MGI:109490,MGI:3705601)
chrX	22032325	22251310	Xp22.2-p22.1	Xp22.11	300550	PHEX, HYP, HPDR1, LXHR	Phosphate regulating endopeptidase homolog, X-linked	PHEX	5251	ENSG00000102174		Hypophosphatemic rickets, X-linked dominant, 307800 (3), X-linked dominant	Phex (MGI:107489)
chrX	22193005	23293146	Xp22.11	Xp22.11	301140	PTCHD1AS	PTCHD1 antisense RNA, noncoding	PTCHD1-AS	100873065				
chrX	22999960	23003589	Xp22	Xp22.11	301079	DDX53, CAGE	DEAD-box helicase 53	DDX53	168400	ENSG00000184735			
chrX	23334396	23404374	Xp22.11	Xp22.11	300828	PTCHD1, AUTSX4	Patched domain-containing protein 1	PTCHD1	139411	ENSG00000165186		{Autism, susceptibility to, X-linked 4}, 300830 (3), X-linked recessive	Ptchd1 (MGI:2685233)
chrX	23667493	23686397	Xp22.11	Xp22.11	300927	PRDX4, AOE372	Peroxiredoxin 4	PRDX4	10549	ENSG00000123131			Prdx4 (MGI:1859815)
chrX	23701055	23743276	Xp22.11	Xp22.11	300862	ACOT9, MTACT48	Acyl-CoA thioesterase 9	ACOT9	23597	ENSG00000123130			Acot10,Acot9 (MGI:1928939,MGI:1928940)
chrX	23783173	23786210	Xp22.1	Xp22.11	313020	SAT1, SSAT	Spermidine/spermine N1-acetyltransferase 1	SAT1	6303	ENSG00000130066			Sat1 (MGI:98233)
chrX	23833353	23907938	Xp22.1	Xp22.11	300753	APOO, MYO25, FAM121B	Apolipoprotein O	APOO	79135	ENSG00000184831			Apoo (MGI:1915566)
chrX	23983720	24027186	Xp22.1	Xp22.11	300980	KLHL15, KIAA1677, XLID103	Kelch-like 15	KLHL15	80311	ENSG00000174010		Intellectual developmental disorder, X-linked 103, 300982 (3), X-linked recessive	Klhl15 (MGI:1923400)
chrX	24054956	24078810	Xp22.2-p22.1	Xp22.11	300161	EIF2S3, EIF2G, MEHMO, MRXSBRK	Eukaryotic translation initiation factor 2, subunit 3	EIF2S3	1968	ENSG00000130741		MEHMO syndrome, 300148 (3), X-linked recessive	Eif2s3x (MGI:1349431)
chrX	24148982	24216255	Xp22.2-p21.3	Xp22.11	314980	ZFX, MRXS37	Zinc finger protein, X-linked	ZFX	7543	ENSG00000005889	nonlyonizing	Intellectual developmental disorder, X-linked syndromic 37, 301118 (3), X-linked	Zfa-ps,Zfx (MGI:99153,MGI:99211)
chrX	24465286	24550466	Xp22.11	Xp22.11	300906	PDK3, CMTX6	Pyruvate dehydrogenase kinase, isoenzyme 3	PDK3	5165	ENSG00000067992	1 family identified with mutation	?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3), X-linked dominant	Pdk3 (MGI:2384308)
chrX	24558087	24672887	Xp22.11	Xp22.11	300948	PCYT1B	Phosphate cytidylyltransferase 1, choline, beta isoform	PCYT1B	9468	ENSG00000102230			Pcyt1b (MGI:2147987)
chrX	24693918	24996986	Xp22.3-p21.1	Xp22.11-p21.3	312040	POLA1, VEODS	Polymerase, DNA, alpha-1	POLA1	5422	ENSG00000101868		Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive; Van Esch-O'Driscoll syndrome, 301030 (3), X-linked recessive	Pola1 (MGI:99660)
chrX	24900001	37800000	Xp21		300679	DELXp21, CXDELp21	Chromosome Xp21 deletion syndrome				contiguous gene deletion syndrome	Chromosome Xp21 deletion syndrome, 300679 (4)	
chrX	24900001	29300000	Xp21.3		300488	MENOQ1	Menopause, natural, age at, QTL 1		494029			{Menopause, natural, age at, QTL1}, 300488 (2), X-linked dominant	
chrX	24900001	31500000	Xp21.3-p21.2		312612	RP6	Retinitis pigmentosa-6, X-linked recessive		6104			?Retinitis pigmentosa, X-linked recessive, 6, 312612 (2), X-linked	
chrX	25003694	25015965	Xp22.13	Xp21.3	300382	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32	Aristaless-related homeobox, X-linked	ARX	170302	ENSG00000004848		Proud syndrome, 300004 (3), X-linked; Hydranencephaly with abnormal genitalia, 300215 (3), X-linked; Partington syndrome, 309510 (3), X-linked recessive; Developmental and epileptic encephalopathy 1, 308350 (3), X-linked recessive; Lissencephaly, X-linked 2, 300215 (3), X-linked; Intellectual developmental disorder, X-linked 29, 300419 (3), X-linked recessive	Arx (MGI:1097716)
chrX	26138343	26140736	Xp21.3	Xp21.3	301064	MAGEB18	Melanoma antigen, family B, 18	MAGEB18	286514	ENSG00000176774			Mageb18 (MGI:3045344)
chrX	26192440	26195646	Xp22	Xp21.3	300467	MAGEB6	Melanoma antigen, family B, 6	MAGEB6	158809	ENSG00000176746			Mageb2,Mageb3,Mageb6b1,Mageb6b2 (MGI:105109,MGI:105117,MGI:3643982,MGI:3646464)
chrX	26216169	26218270	Xp22	Xp21.3	300466	MAGEB5	Melanoma antigen, family B, 5	MAGEB5	347541	ENSG00000188408			Mageb11,Mageb5,Mageb5b (MGI:2148169,MGI:2684890,MGI:3712084)
chrX	27807990	27823014	Xp21.3	Xp21.3	300761	MAGEB10	Melanoma antigen, family B, 10	MAGEB10	139422	ENSG00000177689			
chrX	28587446	29956718	Xp22.1-p21.3	Xp21.3-p21.2	300206	IL1RAPL1, IL1R8, MRX21, MRX34	Il-1 receptor accessory protein-like 1	IL1RAPL1	11141	ENSG00000169306		Intellectual developmental disorder, X-linked 21, 300143 (3), X-linked recessive	Il1rapl1 (MGI:2687319)
chrX	29300001	31500000	Xp21.2		300030	DFNX3, DFN4	Deafness, X-linked 3		1680		?same as DMD	Deafness, X-linked 3, 300030 (2), X-linked	
chrX	29300001	85400000	Xp21.2-q21.1		309050	XS, LUXS	Lutheran suppressor, X-linked		7523				
chrX	30215563	30220089	Xp21.3	Xp21.2	300098	MAGEB2, DAM6	Melanoma antigen, family B, 2	MAGEB2	4113	ENSG00000099399			Mageb4 (MGI:2148568)
chrX	30230657	30237495	Xp21.3	Xp21.2	300152	MAGEB3	Melanoma antigen, family B, 3	MAGEB3	4114	ENSG00000198798			
chrX	30242000	30244187	Xp21.3	Xp21.2	300153	MAGEB4	Melanoma antigen, family B, 4	MAGEB4	4115	ENSG00000120289			Mageb4 (MGI:2148568)
chrX	30243731	30252040	Xp21.3	Xp21.2	300097	MAGEB1, MAGEL1, DAM10	Melanoma antigen, family B, 1	MAGEB1	4112	ENSG00000214107			Mageb1,Mageb2,Mageb3,Mageb4 (MGI:105109,MGI:105117,MGI:105118,MGI:2148568)
chrX	30304206	30309390	Xp21.3-p21.2	Xp21.2	300473	NR0B1, DAX1, AHC, AHX, SRXY2	Nuclear receptor subfamily 0, group B, member 1	NR0B1	190	ENSG00000169297	distal to GK	Adrenal hypoplasia, congenital, 300200 (3), X-linked recessive; 46XY sex reversal 2, dosage-sensitive, 300018 (3), X-linked	Nr0b1 (MGI:1352460)
chrX	30558809	30577766	Xp21.2	Xp21.2	301049	TASL, CXorf21	TLR adaptor interacting with endolysosomal SLC15A4	TASL	80231	ENSG00000120280			Tasl (MGI:1918648)
chrX	30653423	30731462	Xp21.3-p21.2	Xp21.2	300474	GK	Glycerol kinase	GK	2710	ENSG00000198814	2Mb distal to DMD; pseudogene on 4q32	Glycerol kinase deficiency, 307030 (3), X-linked recessive	Gk,Gykl1 (MGI:106594,MGI:891990)
chrX	30827442	30889254	Xp21.2	Xp21.2	300480	TAB3	Tak1 (MAP3K7) binding protein 3	TAB3	257397	ENSG00000157625			Tab3 (MGI:1913974)
chrX	31071233	31072041	Xp21.2	Xp21.2	300308	FTHL17	Ferritin heavy polypeptide-like 17	FTHL17	53940	ENSG00000132446			Fthl17a,Fthl17b,Fthl17c,Fthl17d,Fthl17e,Fthl17f (MGI:1919246,MGI:1933180,MGI:3642940,MGI:3642941,MGI:3705221,MGI:3713070)
chrX	31119222	33339388	Xp21.2	Xp21.2-p21.1	300377	DMD, BMD, CMD3B	Dystrophin	DMD	1756	ENSG00000198947	dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13	Becker muscular dystrophy, 300376 (3), X-linked recessive; Cardiomyopathy, dilated, 3B, 302045 (3), X-linked; Duchenne muscular dystrophy, 310200 (3), X-linked recessive	Dmd (MGI:94909)
chrX	31500001	50100000	Xp21.1-p11.23		300858	MRXS17	Intellectual developmental disorder, X-linked, syndromic 17		100739996		between rs2748314 and rs5906782	Intellectual developmental disorder, X-linked syndromic 17, 300858 (2), X-linked recessive	
chrX	34627075	34657285	Xp11.4	Xp21.1	300698	TMEM47, BCMP1	Transmembrane protein 47	TMEM47	83604	ENSG00000147027			Tmem47 (MGI:2177570)
chrX	35798342	35803772	Xp21.3	Xp21.1	300762	MAGEB16	Melanoma antigen, family B, 16	MAGEB16	139604	ENSG00000189023			Mageb16 (MGI:1919217)
chrX	35919734	36385317	Xp21.1	Xp21.1	301057	CFAP47, CXorf22, SPGFX3	Cilia- and flagella-associated protein 47	CFAP47	286464	ENSG00000165164		Spermatogenic failure, X-linked 3, 301059 (3), X-linked recessive	Cfap47 (MGI:3781475)
chrX	37008366	37011664	Xp21.1	Xp21.1	301067	FAM47C	Family with sequence similarity 47, member C	FAM47C	442444	ENSG00000198173			Fam47c (MGI:1918114)
chrX	37349364	37457291	Xp21.1	Xp21.1	300935	PRRG1, PRGP1	Proline-rich gamma-carboxyglutamic acid protein 1	PRRG1	5638	ENSG00000130962			Prrg1 (MGI:1917364)
chrX	37685791	37732130	Xp21.2-p21.1	Xp21.1	314850	XK, MCLDS	Kell blood group precursor	XK	7504	ENSG00000047597	~500kb distal to CGD	McLeod syndrome, 300842 (3), X-linked	Xk (MGI:103569)
chrX	37780059	37813461	Xp21.1	Xp21.1-p11.4	300481	CYBB, CGDX, AMCBX2, IMD34	Cytochrome b-245, beta polypeptide	CYBB	1536	ENSG00000165168	proximal to DMD	Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3), X-linked recessive; Chronic granulomatous disease, X-linked, 306400 (3), X-linked recessive	Cybb (MGI:88574)
chrX	37800001	58100000	Xp11.4-p11.2		300638	GAGE8	G antigen 8	GAGE8	100101629				
chrX	37800001	61000000	Xp11		300351	GRDX, GD3	Graves disease, susceptibility to, X-linked		117189			{Graves disease, susceptibility to, X-linked}, 300351 (2)	
chrX	37800001	61000000	Xp11		300136	IDDMX	Diabetes mellitus, insulin-dependent, X-linked, susceptibility to		8245		only with DR3	{Diabetes mellitus, insulin-dependent, X-linked}, 300136 (2)	
chrX	37800001	61000000	Xp11		309545	MRXS12	Intellectual developmental disorder, X-linked, syndromic 12		8246			?Intellectual developmental disorder, X-linked syndromic 12, 309545 (2), X-linked	
chrX	37800001	42500000	Xp11.4		300589	NYS5	Nystagmus 5, congenital, X-linked		780901		max lod at DXS993	Nystagmus 5, congenital, X-linked, 300589 (2), X-linked dominant	
chrX	37800001	58100000	Xp11.4-p11.21		311050	OPA2	Optic atrophy, X-linked		4977			Optic atrophy 2, X-linked, 311050 (2), X-linked	
chrX	37800001	99100000	Xp11-q21		300047	XLID20, MRX20	Intellectual developmental disorder, X-linked 20		4384			Intellectual developmental disorder, X-linked 20, 300047 (2), X-linked	
chrX	37838836	37847571	Xp21	Xp11.4	300302	DYNLT3, TCTE1L	Dynein light chain Tctex-type 3	DYNLT3	6990	ENSG00000165169			Dynlt3 (MGI:1914367)
chrX	37888915	38128820	Xp11.4	Xp11.4	301126	SYTL5, SLP5	Synaptotagmin-like 5	SYTL5	94122	ENSG00000147041			Sytl5 (MGI:2668451)
chrX	38149339	38220871	Xp21.1	Xp11.4	300187	SRPX, ETX1	Sushi-repeat-containing protein, X chromosome	SRPX	8406	ENSG00000101955	probably between OTC and CGD		Srpx (MGI:1858306)
chrX	38269163	38327509	Xp11.4	Xp11.4	312610	RPGR, RP3, CRD, RP15, COD1, CORDX1	Retinitis pigmentosa GTPase regulator	RPGR	6103	ENSG00000156313		Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3), X-linked; Cone-rod dystrophy, X-linked, 1, 304020 (3), X-linked recessive; Retinitis pigmentosa 3, 300029 (3), X-linked; Macular degeneration, X-linked atrophic, 300834 (3), X-linked recessive	Rpgr (MGI:1344037)
chrX	38327684	38422928	Xp21.1	Xp11.4	300461	OTC	Ornithine transcarbamylase	OTC	5009	ENSG00000036473	proximal to DMD, CGD	Ornithine transcarbamylase deficiency, 311250 (3), X-linked	Otc (MGI:97448)
chrX	38561542	38688918	Xq11	Xp11.4	300096	TSPAN7, TM4SF2, MXS1, A15, XLID58	Tetraspanin 7	TSPAN7	7102	ENSG00000156298		Intellectual developmental disorder, X-linked 58, 300210 (3), X-linked recessive	Tspan7 (MGI:1298407)
chrX	38801459	38806532	Xp11.4	Xp11.4	300961	MID1IP1, MIG12	MID1-interacting protein 1	MID1IP1	58526	ENSG00000165175			Mid1ip1 (MGI:1915291)
chrX	40051246	40177329	Xp11.4	Xp11.4	300485	BCOR, KIAA1575, MCOPS2, MAA2, ANOP2	BCL6 corepressor	BCOR	54880	ENSG00000183337		Microphthalmia, syndromic 2, 300166 (3), X-linked dominant	Bcor (MGI:1918708)
chrX	40580970	40606848	Xp11.4	Xp11.4	300556	ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS, CDG2R	ATPase, H+ transporting, lysosomal, accessory protein 2	ATP6AP2	10159	ENSG00000182220	mutation identified in 1 XPDS family	Intellectual developmental disorder, X-linked syndromic, Hedera type, 300423 (3), X-linked recessive; ?Parkinsonism with spasticity, X-linked, 300911 (3), X-linked recessive; Congenital disorder of glycosylation, type IIr, 301045 (3), X-linked recessive	Atp6ap2 (MGI:1917745)
chrX	40623428	40624136	Xp11.4	Xp11.4	301103	MPC1L	Mitochondrial pyruvate carrier 1-like protein	MPC1L	347411	ENSG00000238205			
chrX	40626921	40647561	Xp11.4	Xp11.4	301117	CXorf38	Chromosome X open reading frame 38	CXorf38	159013	ENSG00000185753			1810030O07Rik (MGI:1916405)
chrX	40648305	40736159	Xp11.4-p11.2	Xp11.4	300182	MED14, CRSP2, CXorf4, TRAP170, EXLM1	Mediator complex subunit 14	MED14	9282	ENSG00000180182			Med14 (MGI:1349442)
chrX	41085445	41236579	Xp11.4	Xp11.4	300072	USP9X, DFFRX, XLID99, MRXS99F	Ubiquitin-specific protease-9, X chromosome (Drosophila fat facets related, X-linked)	USP9X	8239	ENSG00000124486		Intellectual developmental disorder, X-linked 99, 300919 (3), X-linked recessive; Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, 300968 (3), X-linked dominant	Usp9x (MGI:894681)
chrX	41333308	41364472	Xp11.3-p11.23	Xp11.4	300160	DDX3X, DDX3, DBX, MRX102, MRXSSB	DEAD-box helicase 3, X-linked	DDX3X	1654	ENSG00000215301		Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, 300958 (3), X-linked recessive, X-linked dominant	D1Pas1,Ddx3x (MGI:103064,MGI:91842)
chrX	41447343	41475652	Xp11.4	Xp11.4	300278	NYX, CSNB1A, NBM1	Nyctalopin	NYX	60506	ENSG00000188937		Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3), X-linked recessive	Nyx (MGI:2448607)
chrX	41514934	41923554	Xp11.4	Xp11.4	300172	CASK, MICPCH, FGS4, CMG, MRXSNA	Calcium/calmodulin-dependent serine protein kinase	CASK	8573	ENSG00000147044		Intellectual developmental disorder, with or without nystagmus, 300422 (3), X-linked recessive; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, 300749 (3), X-linked; FG syndrome 4, 300422 (3), X-linked recessive	Cask (MGI:1309489)
chrX	41688973	41697275	Xp11.4	Xp11.4	300241	GPR34	G protein-coupled receptor 34	GPR34	2857	ENSG00000171659			Gpr34 (MGI:1346334)
chrX	41724181	41730130	Xp11.4	Xp11.4	300748	GPR82	G protein-coupled receptor 82	GPR82	27197	ENSG00000171657			Gpr82 (MGI:2441734)
chrX	42500001	68500000	Xp11.3-q12		300652	AGSPX	Angioma serptiginosum, X-linked		100188767		between DXS8026 and DXS106	Angio serpiginosum, 300652 (2), X-linked dominant	
chrX	42500001	47600000	Xp11.3		300578	DELXp11.3, CXDELp11.3	Chromosome Xp11.3 deletion syndrome					Chromosome Xp11.3 deletion syndrome, 300578 (4), X-linked recessive	
chrX	42500001	109400000	Xp11.3-q22		300218	MRXS7	Intellectual developmental disorder, X-linked, syndromic 7		4429			Intellectual developmental disorder, X-linked syndromic 7, 300218 (2), X-linked	
chrX	42500001	76800000	Xp11.3-q13.3		300062	XLID14, MRX14	Intellectual developmental disorder, X-linked 14		4378			Intellectual developmental disorder, X-linked 14, 300062 (2), X-linked	
chrX	42500001	58100000	Xp11.3-p11.21		300498	XLID45, MRX45	Intellectual developmental disorder, X-linked 45					Intellectual developmental disorder, X-linked 45, 300498 (2), X-linked	
chrX	42500001	109400000	Xp11.3-q22.3		300505	XLID84, MRX84	Intellectual developmental disorder, X-linked 84		378882		29 other MRX loci in same region	Intellectual developmental disorder, X-linked 84, 300505 (2), X-linked recessive	
chrX	42500001	47600000	Xp11.3		300848	XLID89, MRX89	Intellectual developmental disorder, X-linked 89				t(X;7)(p11.3;q11.21)	Intellectual developmental disorder, X-linked 89, 300848 (2), X-linked dominant	
chrX	42500001	47600000	Xp11.3		300851	XLID92, MRX92	Intellectual developmental disorder, X-linked 92		102775565		previously associated with ZNF674	Intellectual developmental disorder, X-linked 92, 300851 (2), X-linked recessive	
chrX	42777366	42778163	Xp11.3	Xp11.3	301017	PPP1R2C	Protein phosphatase 1, regulatory subunit 2C	PPP1R2C	80316	ENSG00000102055			
chrX	43655006	43746817	Xp11.23	Xp11.3	309850	MAOA, BRNRS	Monoamine oxidase A	MAOA	4128	ENSG00000189221	NDP, MAOA, MAOB closely linked	Brunner syndrome, 300615 (3), X-linked recessive	Maoa (MGI:96915)
chrX	43766610	43882450	Xp11.23	Xp11.3	309860	MAOB	Monoamine oxidase B	MAOB	4129	ENSG00000069535			Maob (MGI:96916)
chrX	43948776	43973390	Xp11.4	Xp11.3	300658	NDP, ND, EVR2	Norrin cystine knot growth factor	NDP	4693	ENSG00000124479		Exudative vitreoretinopathy 2, X-linked, 305390 (3), X-linked recessive, X-linked dominant; Norrie disease, 310600 (3), X-linked recessive	Ndp (MGI:102570)
chrX	44147872	44343672	Xp11.3	Xp11.3	300817	EFHC2	EF-hand domain (C-terminal)-containing protein 2	EFHC2	80258	ENSG00000183690			Efhc2 (MGI:1921655)
chrX	44523639	44542859	Xp11.3	Xp11.3	300871	FUNDC1	FUN14 domain-containing protein 1	FUNDC1	139341	ENSG00000069509			Fundc1 (MGI:1919268)
chrX	44844021	44844888	Xp11.3	Xp11.3	300678	DUSP21, LMWDSP21	Dual-specificity phosphatase 21	DUSP21	63904	ENSG00000189037			Dusp21 (MGI:1920797)
chrX	44873188	45112779	Xp11.2	Xp11.3	300128	KDM6A, UTX, KABUK2	Lysine demethylase 6A	KDM6A	7403	ENSG00000147050	UTY also in mouse and man; escapes inactivation	Kabuki syndrome 2, 300867 (3), X-linked dominant	Kdm6a (MGI:1095419)
chrX	45148373	45200876	Xp11.3	Xp11.3	300959	DIPK2B, CXorf36, DIA1R	Divergent protein kinase domain 2B	DIPK2B	79742	ENSG00000147113			Dipk2b (MGI:1923155)
chrX	45746157	45746266	Xp11.3	Xp11.3	300568	MIR221, MIRN221	Micro RNA 221	MIR221	407006	ENSG00000207870	near MIRN222		Mir221 (MGI:3619066)
chrX	45747015	45747124	Xp11.3	Xp11.3	300569	MIR222, MIRN222	Micro RNA 222	MIR222	407007	ENSG00000207725	near MIRN221		Mir222 (MGI:3619118)
chrX	46447297	46474639	Xp11.3	Xp11.3	300585	ZNF673, FLJ20344	Zinc finger protein 673	KRBOX4	55634	ENSG00000147121			
chrX	46497725	46545421	Xp11	Xp11.3	300573	ZNF674	Zinc finger protein 674	ZNF674	641339	ENSG00000251192			
chrX	46573765	46598496	Xp11.3	Xp11.3	300375	CHST7, C6ST2	Carbohydrate sulfotransferase 7	CHST7	56548	ENSG00000147119			Chst7 (MGI:1891767)
chrX	46599251	46759118	Xp11.3	Xp11.3	300368	SLC9A7, NHE7, MRX108	Solute carrier family 9 (sodium/hydrogen exchanger), member 7	SLC9A7	84679	ENSG00000065923		Intellectual developmental disorder, X-linked 108, 301024 (3), X-linked recessive	Slc9a7 (MGI:2444530)
chrX	46837043	46882358	Xp11.23	Xp11.3	300757	RP2	RP2 activator of ARL3 GTPase	RP2	6102	ENSG00000102218		Retinitis pigmentosa 2, 312600 (3), X-linked	Rp2 (MGI:1277953)
chrX	46912301	47061242	Xp11.23	Xp11.3	300618	PHF16, JADE3, KIAA0215	PHD finger protein 16	JADE3	9767	ENSG00000102221			Jade3 (MGI:2148019)
chrX	47078443	47093313	Xp11.2-q11.2	Xp11.3	300212	RGN, SMP30	Regucalcin	RGN	9104	ENSG00000130988			Rgn (MGI:108024)
chrX	47142216	47145491	Xp11.3	Xp11.3	300403	NDUFB11, LSDMCA3, MC1DN30	NADH-ubiquinone oxidoreductase subunit B11	NDUFB11	54539	ENSG00000147123	mutation identified in 1 MC1DN30 patient	Linear skin defects with multiple congenital anomalies 3, 300952 (3), X-linked dominant; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 (3), X-linked	Ndufb11,Ndufb11b (MGI:1349919,MGI:1913596)
chrX	47145221	47186813	Xp11.23	Xp11.3	300080	RBM10, DXS8237E, KIAA0122, TARPS	RNA-binding motif protein 10	RBM10	8241	ENSG00000182872		TARP syndrome, 311900 (3), X-linked recessive	Rbm10 (MGI:2384310)
chrX	47190847	47215128	Xp11.23	Xp11.3	314370	UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1, VEXAS	Ubiquitin-like modifier activating enzyme 1	UBA1	7317	ENSG00000130985	escapes inactivation	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3), X-linked recessive; VEXAS syndrome, somatic, 301054 (3)	Uba1 (MGI:98890)
chrX	47204848	47205861	Xp11.23	Xp11.3	300164	INE1	Inactivation escape 1	INE1	8552	ENSG00000224975			
chrX	47218303	47229997	Xp11.3-p11.23	Xp11.3	311550	CDK16, PCTK1, PCTAIRE1	Cyclin-dependent kinase 16	CDK16	5127	ENSG00000102225			Cdk16 (MGI:97516)
chrX	47233009	47248328	Xp21.2-p11.2	Xp11.3	300050	USP11, UHX1	Ubiquitin-specific protease-11 (ubiquitin carboxyl-terminal hydrolase)	USP11	8237	ENSG00000102226			Usp11 (MGI:2384312)
chrX	47370578	47414498	Xp11.2	Xp11.3	300024	ZNF157	Zinc finger protein-157 (HZF22)	ZNF157	7712	ENSG00000147117			Gm14412 (MGI:3652251)
chrX	47445178	47483222	Xp22.1-cen	Xp11.3	314995	ZNF41	Zinc finger protein-41	ZNF41	7592	ENSG00000147124			
chrX	47561205	47571908	Xp11.4-p11.2	Xp11.3	311010	ARAF1, RAFA1, PKS2	Oncogene ARAF1	ARAF	369	ENSG00000078061			Araf (MGI:88065)
chrX	47571901	47619857	Xp11.4-p11.2	Xp11.3-p11.23	313440	SYN1, EPILX1, MRX50	Synapsin I	SYN1	6853	ENSG00000008056		Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, 300491 (3), X-linked; Intellectual developmental disorder, X-linked 50, 300115 (3), X-linked	Syn1 (MGI:98460)
chrX	47582436	47586789	Xp11.3-p11.23	Xp11.3	305370	TIMP1, TIMP, EPA	Erythroid-potentiating activity (tissue inhibitor of metalloproteinases)	TIMP1	7076	ENSG00000102265	in intron of SYN1		Timp1 (MGI:98752)
chrX	47600001	54800000	Xp11.23-p11.22		300801	DUPXp11.23p11.22, CXDUPp11.23p11.22	Chromosome Xp11.23-p11.22 duplication syndrome					Chromosome Xp11.23-p11.22 duplication syndrome, 300801 (4), X-linked dominant	
chrX	47600001	50100000	Xp11.23		300726	GAGE2B	G antigen 2B	GAGE2B	645037				
chrX	47600001	50100000	Xp11.23		300595	GAGE2C, GAGE2	G antigen 2C	GAGE2C	2574				
chrX	47600001	50100000	Xp11.23		300735	GAGE2D	G antigen 2D	GAGE2D	729408				
chrX	47600001	50100000	Xp11.23		300736	GAGE2E	G antigen 2E	GAGE2E	26749				
chrX	47600001	50100000	Xp11.23		300596	GAGE3	G antigen 3						
chrX	47600001	50100000	Xp11.23		300597	GAGE4	G antigen 4	GAGE4	2576				
chrX	47600001	50100000	Xp11.23		300598	GAGE5	G antigen 5	GAGE5	2577				
chrX	47600001	50100000	Xp11.23		300599	GAGE6	G antigen 6	GAGE6	2578				
chrX	47600001	50100000	Xp11.23		300601	GAGE7	G antigen 7	GAGE7	2579				
chrX	47600001	50100000	Xp11.23		300637	GAGE7B	G antigen 7B	GAGE12I	26748				
chrX	47600001	58100000	Xp11.2		300434	SDSX, MRXSDS	Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type					Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type, 300434 (2), X-linked	
chrX	47600001	68500000	Xp11.2-q12		300433	XLID81, MRX81	Intellectual developmental disorder, X-linked 81		266678		between DXS1039 and DXS1216	Intellectual developmental disorder, X-linked 81, 300433 (2), X-linked recessive	
chrX	47623282	47630305	Xp11.4-p11.23	Xp11.23	300383	CFP, PFC, PFD	Complement factor properdin	CFP	5199	ENSG00000126759		Properdin deficiency, X-linked, 312060 (3), X-linked recessive	Cfp (MGI:97545)
chrX	47635520	47650604	Xp11.2	Xp11.23	311040	ELK1	ELK1, member of ETS oncogene family	ELK1	2002	ENSG00000126767	distal to OATL1		Elk1 (MGI:101833)
chrX	47651796	47659180	Xp11.23	Xp11.23	300234	UXT	Ubiquitously expressed transcript	UXT	8409	ENSG00000126756			Uxt (MGI:1277988)
chrX	47836902	47925627	Xp22.1-p11	Xp11.23	314998	ZNF81	Zinc finger protein-81 (HFZ20)	ZNF81	347344	ENSG00000197779			
chrX	47974851	48003989	Xp11.3	Xp11.23	314993	ZNF21	Zinc finger protein-12	ZNF182	7569	ENSG00000147118			Zfp182 (MGI:2442220)
chrX	48004336	48009733	Xp11.23	Xp11.23	300593	SPACA5, LOC389852	Sperm acrosome associated 5	SPACA5	389852	ENSG00000171489			Spaca5 (MGI:2685564)
chrX	48057516	48071640	Xp11.23	Xp11.23	300819	ZNF630	Zinc finger protein 630	ZNF630	57232	ENSG00000221994			Zfp119b (MGI:2385323)
chrX	48107982	48120686	Xp11.23	Xp11.23	300541	SSX6	Synovial sarcoma, X breakpoint 6	SSX6P	280657				
chrX	48186220	48196795	Xp11.23	Xp11.23	300327	SSX5	Synovial sarcoma, X breakpoint 5	SSX5	6758	ENSG00000165583			Ssxa1,Ssxb1,Ssxb10,Ssxb13,Ssxb14,Ssxb15,Ssxb16,Ssxb3,Ssxb5,Ssxb8,Ssxb9 (MGI:1915235,MGI:2446772,MGI:2446773,MGI:2446774,MGI:2446777,MGI:2446778,MGI:2446779,MGI:2446782,MGI:3642927,MGI:3647394,MGI:3650385)
chrX	48255392	48267444	Xp11.23	Xp11.23	312820	SSX1, SSRC, SPGFX5	Synovial sarcoma, X breakpoint 1	SSX1	6756	ENSG00000126752		Spermatogenic failure, X-linked, 5, 301099 (3), X-linked	Ssxa1,Ssxb1,Ssxb10,Ssxb13,Ssxb14,Ssxb15,Ssxb16,Ssxb3,Ssxb5,Ssxb6,Ssxb8 (MGI:1915235,MGI:2446772,MGI:2446773,MGI:2446774,MGI:2446775,MGI:2446777,MGI:2446779,MGI:2446782,MGI:3642927,MGI:3647394,MGI:3650385)
chrX	48301550	48306179	Xp11.23	Xp11.23	300544	SSX9	Sarcoma, synovial, X breakpoint 9	SSX9P	280660	ENSG00000290708			
chrX	48346427	48356703	Xp11.23	Xp11.23	300325	SSX3	Synovial sarcoma, X breakpoint 3	SSX3	10214	ENSG00000165584			Ssxa1,Ssxb1,Ssxb10,Ssxb13,Ssxb14,Ssxb15,Ssxb16,Ssxb3,Ssxb6,Ssxb8,Ssxb9 (MGI:1915235,MGI:2446772,MGI:2446773,MGI:2446775,MGI:2446777,MGI:2446778,MGI:2446779,MGI:2446782,MGI:3642927,MGI:3647394,MGI:3650385)
chrX	48383539	48393347	Xp11.23	Xp11.23	300326	SSX4	Synovial sarcoma, X breakpoint 4	SSX4	6759	ENSG00000268009			Ssxa1,Ssxb1,Ssxb10,Ssxb13,Ssxb14,Ssxb15,Ssxb16,Ssxb2,Ssxb3,Ssxb5,Ssxb8,Ssxb9 (MGI:1915235,MGI:2446771,MGI:2446772,MGI:2446773,MGI:2446774,MGI:2446777,MGI:2446778,MGI:2446779,MGI:2446782,MGI:3642927,MGI:3647394,MGI:3650385)
chrX	48458544	48470260	Xp11.23	Xp11.23	300649	SLC38A5, SN2	Solute carrier family 38 (amino acid transporter), member 5	SLC38A5	92745	ENSG00000017483			Slc38a5 (MGI:2148066)
chrX	48476021	48486364	Xp11.23	Xp11.23	300499	FTSJ1, JM23, SPB1, MRX44, MRX9, XLID9	FTSJ RNA 2-prime-O-methyltransferase 1	FTSJ1	24140	ENSG00000068438		Intellectual developmental disorder, X-linked 9, 309549 (3), X-linked recessive	Ftsj1 (MGI:1859648)
chrX	48508992	48520814	Xp11.23	Xp11.23	300651	PORCN, PORC, DHOF, FODH	Porcupine O-acyltransferase	PORCN	64840	ENSG00000102312		Focal dermal hypoplasia, 305600 (3), X-linked dominant	Porcn (MGI:1890212)
chrX	48521808	48528716	Xp11.23-p11.22	Xp11.23	300205	EBP, CDPX2, CPXD, CPX, MEND	Emopamil-binding protein	EBP	10682	ENSG00000147155		MEND syndrome, 300960 (3), X-linked recessive; Chondrodysplasia punctata, X-linked dominant, 302960 (3), X-linked dominant	Ebp (MGI:107822)
chrX	48539714	48562609	Xp11.3-p11.23	Xp11.23	311240	TBC1D25, OATL1	TBC1 domain family, member 25	TBC1D25	4943	ENSG00000068354			Tbc1d25 (MGI:2444862)
chrX	48574484	48581162	Xp11.23	Xp11.23	300027	RBM3	RNA binding motif protein 3	RBM3	5935	ENSG00000102317			Rbm3,Rbm3-ps (MGI:1099460,MGI:3642874)
chrX	48597492	48608869	Xp11.23	Xp11.23	300512	WDR13	WD repeat-containing protein 13	WDR13	64743	ENSG00000101940			Wdr13 (MGI:1914661)
chrX	48676636	48691427	Xp11.23-p11.22	Xp11.23	300392	WAS, IMD2, THC1, SCNX	WASP actin nucleation promoting factor	WAS	7454	ENSG00000015285	t(18;X)(q11.2;p11.2); distal to TIMP	Wiskott-Aldrich syndrome, 301000 (3), X-linked recessive; Neutropenia, severe congenital, X-linked, 300299 (3), X-linked recessive; Thrombocytopenia, X-linked, intermittent, 313900 (3), X-linked recessive; Thrombocytopenia, X-linked, 313900 (3), X-linked recessive	Was (MGI:105059)
chrX	48695554	48709016	Xp11.23	Xp11.23	300254	SUV39H1	Suppressor of variegation 3-9, Drosophila, homolog of, 1	SUV39H1	6839	ENSG00000101945			Suv39h1 (MGI:1099440)
chrX	48761747	48773648	Xp11.23	Xp11.23	301112	GLOD5	Glyoxalase domain-containing protein 5	GLOD5	392465	ENSG00000171433			Glod5 (MGI:1917074)
chrX	48786590	48794311	Xp11.23	Xp11.23	305371	GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP, CNSHA9	GATA-binding protein-1 (globin transcription factor-1)	GATA1	2623	ENSG00000102145		Anemia, congenital, nonspherocytic hemolytic, 9, 301083 (3), X-linked recessive; Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 159595 (3); Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3), X-linked recessive; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3), X-linked recessive; Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3), X-linked recessive	Gata1 (MGI:95661)
chrX	48801398	48824982	Xp11.23	Xp11.23	300272	HDAC6, CPBHM	Histone deacetylase 6	HDAC6	10013	ENSG00000094631	mutation identified in 1 CPBHM family	?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3), X-linked dominant	Hdac6 (MGI:1333752)
chrX	48826513	48829869	Xp11.2	Xp11.23	300437	HRAS2, HRASP	v-Ha-ras harvey rat sarcoma viral oncogene homolog 2	ERAS	3266	ENSG00000187682			Eras (MGI:2665023)
chrX	48831096	48835610	Xp11.3	Xp11.23	300399	PCSK1N, PROSAAS	Proprotein convertase, subtilisin/kexin-type, 1, inhibitor of	PCSK1N	27344	ENSG00000102109			Pcsk1n (MGI:1353431)
chrX	48893447	48898143	Xp11.2	Xp11.23	300249	TIMM17B, TIM17B	Translocase of inner mitochondrial membrane 17B	TIMM17B	10245	ENSG00000126768			Timm17b (MGI:1343176)
chrX	48897930	48903143	Xp11.23	Xp11.23	300463	PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8	Polyglutamine-binding protein 1	PQBP1	10084	ENSG00000102103		Renpenning syndrome, 309500 (3), X-linked recessive	Pqbp1 (MGI:1859638)
chrX	48903183	48911958	Xp11.23-p11.22	Xp11.23	314375	SLC35A2, UGALT, UGTL, UGT2, CDGX, CDG2M	Solute carrier family 35 (UDP-galactose transporter), member 2	SLC35A2	7355	ENSG00000102100		Congenital disorder of glycosylation, type IIm, 300896 (3), Somatic mosaicism, X-linked dominant	Slc35a2 (MGI:1345297)
chrX	48913182	48919024	Xp11.23	Xp11.23	300295	PIM2	PIM2 protooncogene, serine/threonine kinase	PIM2	11040	ENSG00000102096			Pim2 (MGI:97587)
chrX	48922024	48958381	Xp11.23	Xp11.23	300713	OTUD5, DUBA, MCAND	OTU domain-containing protein 5	OTUD5	55593	ENSG00000068308		Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, 301056 (3), X-linked recessive	Otud5 (MGI:1859615)
chrX	48961380	48971844	Xp11.23	Xp11.23	300281	KCND1	Potassium voltage-gated channel, SHAL-related subfamily, member 1	KCND1	3750	ENSG00000102057			Kcnd1 (MGI:96671)
chrX	48973723	49002264	Xp11.23	Xp11.23	300408	GRIPAP1, GRASP1, KIAA1167	GRIP1-associated protein 1	GRIPAP1	56850	ENSG00000068400			Gripap1 (MGI:1859616)
chrX	49028726	49043357	Xp11.22	Xp11.23	314310	TFE3, RCCX1, MRXSPF	Transcription factor for IgH enhancer	TFE3	7030	ENSG00000068323	fuses with PRCC in RCCP	Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies, 301066 (3), X-linked; Renal cell carcinoma, papillary, 1, 300854 (3)	Tfe3 (MGI:98511)
chrX	49053572	49069858	Xp11.23	Xp11.23	300947	CCDC120	Coiled-coil domain-containing protein 120	CCDC120	90060	ENSG00000147144			Ccdc120 (MGI:1859619)
chrX	49071161	49074002	Xp11.23	Xp11.23	300840	PRAF2, JM4	PRA1 domain family, member 2	PRAF2	11230	ENSG00000243279			Praf2 (MGI:1859607)
chrX	49074442	49101178	Xp11.23	Xp11.23	300526	WDR45, WIPI4, NBIA5	WD repeat-containing protein 45	WDR45	11152	ENSG00000196998	?pseudogene on 4q31.3	Neurodegeneration with brain iron accumulation 5, 300894 (3), X-linked dominant	Wdr45 (MGI:1859606)
chrX	49113407	49123735	Xp11.23	Xp11.23	301003	GPKOW, GPATCH5	G-patch domain and KO@ motifs	GPKOW	27238	ENSG00000068394			Gpkow (MGI:1859610)
chrX	49171898	49175235	Xp11.23-p11.22	Xp11.23	300112	PLP2	Proteolipid protein 2	PLP2	5355	ENSG00000102007			Plp2,Plp2rt (MGI:1298382,MGI:3646298)
chrX	49174802	49186373	Xp11.23	Xp11.23	300111	PRICKLE3, LMO6, LOAM	Prickle, Drosophila, homolog of, 3	PRICKLE3	4007	ENSG00000012211		{Leber hereditary optic neuropathy, modifier of}, 308905 (3), X-linked dominant	Prickle3 (MGI:1859635)
chrX	49187815	49200193	Xp11.23-p11.22	Xp11.23	313475	SYP, XLID96	Synaptophysin	SYP	6855	ENSG00000102003		Intellectual developmental disorder, X-linked 96, 300802 (3), X-linked recessive	Syp (MGI:98467)
chrX	49205063	49233340	Xp11.23	Xp11.23	300110	CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2	Calcium channel, voltage-dependent, alpha-1F subunit	CACNA1F	778	ENSG00000102001		Cone-rod dystrophy, X-linked, 3, 300476 (3), X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3), X-linked; Aland Island eye disease, 300600 (3), X-linked	Cacna1f (MGI:1859639)
chrX	49235470	49250520	Xp11.23	Xp11.23	300859	CCDC22, RTSC2	Coiled-coil domain-containing protein 22	CCDC22	28952	ENSG00000101997		Ritscher-Schinzel syndrome 2, 300963 (3), X-linked recessive	Ccdc22 (MGI:1859608)
chrX	49250438	49264710	Xp11.23-q13.3	Xp11.23	300292	FOXP3, IPEX, AIID, XPID, PIDX	Forkhead box P3 (scurfin)	FOXP3	50943	ENSG00000049768		Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3), X-linked recessive	Foxp3 (MGI:1891436)
chrX	49269793	49301469	Xp11.23	Xp11.23	301104	PPP1R3F, R3F	Protein phosphatase 1, regulatory subunit 3F	PPP1R3F	89801	ENSG00000049769			Ppp1r3f (MGI:1859617)
chrX	49303646	49319844	Xp11.23	Xp11.23	300737	GAGE10	G antigen 10	GAGE10	102724473	ENSG00000215274			
chrX	49322037	49329384	Xp11.23	Xp11.23	300733	GAGE12J	G antigen 12J	GAGE12J	729396	ENSG00000224659			
chrX	49331582	49338949	Xp11.23	Xp11.23	300734	GAGE13	G antigen 13	GAGE13	645051	ENSG00000274274			
chrX	49532177	49539538	Xp11.23	Xp11.23	300727	GAGE12C	G antigen 12C	GAGE12C	729422	ENSG00000237671			
chrX	49541733	49549094	Xp11.23	Xp11.23	300728	GAGE12D	G antigen 12D	GAGE12D	100132399	ENSG00000227488			
chrX	49551289	49558645	Xp11.23	Xp11.23	300729	GAGE12E	G antigen 12E	GAGE12E	729431	ENSG00000216649			
chrX	49560842	49568205	Xp11.23	Xp11.23	300730	GAGE12F	G antigen 12F	GAGE12F	100008586	ENSG00000236362			
chrX	49570397	49577757	Xp11.23	Xp11.23	300731	GAGE12G	G antigen 12G	GAGE12G	645073	ENSG00000215269			
chrX	49579949	49587301	Xp11.23	Xp11.23	300732	GAGE12H	G antigen 12H	GAGE12H	729442	ENSG00000224902			
chrX	49589496	49596824	Xp11.23	Xp11.23	300720	GAGE2A	G antigen 2A	GAGE2A	729447	ENSG00000189064			
chrX	49599013	49608538	Xp11.23	Xp11.23	300594	GAGE1	G antigen 1	GAGE1	2543	ENSG00000205777			
chrX	49687447	49695984	Xp11.23	Xp11.23	300288	GAGEB1, PAGE1	P antigen family, member 1	PAGE1	8712	ENSG00000068985			
chrX	49829260	49834264	Xp11.23	Xp11.23	300287	PAGE4, GAGEC1	P antigen family, member 4	PAGE4	9506	ENSG00000101951			
chrX	49879484	49882558	Xp11.2	Xp11.23	300975	USP27X, USP22L, XLID105	Ubiquitin-specific protease 27, X-linked	USP27X	389856	ENSG00000273820		Intellectual developmental disorder, X-linked 105, 300984 (3), X-linked recessive	Usp27x (MGI:1859645)
chrX	49922596	50099230	Xp11.22	Xp11.23	300008	CLCN5, CLCK2, NPHL2, DENT1, NPHL1	Chloride channel-5	CLCN5	1184	ENSG00000171365		Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3), X-linked recessive; Hypophosphatemic rickets, 300554 (3), X-linked recessive; Dent disease 1, 300009 (3), X-linked recessive; Nephrolithiasis, type I, 310468 (3), X-linked recessive	Clcn5 (MGI:99486)
chrX	50003148	50003238	Xp11.23	Xp11.23	301023	MIR532	Micro RNA 532	MIR532	693124	ENSG00000207758			Mir532 (MGI:3629950)
chrX	50014598	50014683	Xp11.23	Xp11.23	300893	MIR502	Micro RNA 502	MIR502	574504	ENSG00000272080			
chrX	50100001	54800000	Xp11.22		300705	DUPXp11.22, MRX17, MRX31	Xp11.22 microduplication syndrome				minimal duplicated region 228 kb overlapping HUWE1 and HSD17B10	Xp11.22 microduplication syndrome, 300705 (4)	
chrX	50100001	54800000	Xp11.22		300704	HPCX2	Prostate cancer, hereditary, X-linked 2		100188769		associated with rs5945572	{Prostate cancer, hereditary, X-linked 2}, 300704 (2)	
chrX	50100001	54800000	Xp11.22		300856	HYSP4	Hypospadias 4, X-linked, susceptibility to		100689214		associated with rs1934179 and rs7063116	{Hypospadias 4, X-linked, susceptibility to}, 300856 (2)	
chrX	50190777	50201007	Xp11.2	Xp11.22	300185	AKAP4, AKAP82, HI, FSC1	A-kinase anchor protein 4, 82kD	AKAP4	8852	ENSG00000147081			Akap4 (MGI:102794)
chrX	50202713	50351914	Xp11.22	Xp11.22	300456	CCNB3	Cyclin B3	CCNB3	85417	ENSG00000147082			Ccnb3 (MGI:2183443)
chrX	50365409	50470825	Xp11.22	Xp11.22	300837	DGKK	Diacylglycerol kinase, kappa, 142kD	DGKK	139189	ENSG00000274588			Dgkk (MGI:3580254)
chrX	50575534	50814194	Xp11.2	Xp11.22	300579	SHROOM4, KIAA1202	Shroom family member 4	SHROOM4	57477	ENSG00000158352			Shroom4 (MGI:2685570)
chrX	50910735	50916641	Xp11.2	Xp11.22	300247	BMP15, GDF9B, ODG2, POF4	Bone morphogenetic protein 15	BMP15	9210	ENSG00000130385		Premature ovarian failure 4, 300510 (3), X-linked; Ovarian dysgenesis 2, 300510 (3), X-linked	Bmp15 (MGI:1316745)
chrX	51332231	51337525	Xp11.23	Xp11.22	300527	NUDT10, DIPP3A, APS2	Nudix hydrolase 10	NUDT10	170685	ENSG00000122824			Nudt10,Nudt11 (MGI:1930957,MGI:2147931)
chrX	51406948	51408843	Xp11.22	Xp11.22	301036	EZHIP, CATACOMB, CXorf67	EZH inhibitory protein	EZHIP	340602	ENSG00000187690			Ezhip (MGI:2147968)
chrX	51490011	51496592	Xp11.23	Xp11.22	300528	NUDT11, DIPP3B, APS1	Nudix hydrolase 11	NUDT11	55190	ENSG00000196368			Nudt10,Nudt11 (MGI:1930957,MGI:2147931)
chrX	51743442	51746232	Xp11.23-p11.21	Xp11.22	300418	GSPT2, GST2, ERF3B	G1- to S-phase transition 2	GSPT2	23708	ENSG00000189369			Gspt2 (MGI:1316727)
chrX	51803076	51902354	Xp11.23	Xp11.22	300224	MAGED1	Melanoma antigen, family D, 1	MAGED1	9500	ENSG00000179222			Maged1 (MGI:1930187)
chrX	52061827	52069272	Xp11	Xp11.22	300765	MAGED4B	Melanoma antigen, family D, 4B	MAGED4B	81557	ENSG00000187243			
chrX	52184888	52192268	Xp11	Xp11.22	300702	MAGED4, MAGEE1, KIAA1859	Melanoma antigen, family D, 4	MAGED4	728239	ENSG00000154545			
chrX	52369021	52375680	Xp11.22	Xp11.22	300416	XAGE2, GAGED3	X antigen family, member 2	XAGE2	9502	ENSG00000155622			
chrX	52495808	52500812	Xp11.22	Xp11.22	300742	XAGE1A, XAGE1B	X antigen family, member 1A	XAGE1A	653220	ENSG00000204379			
chrX	52512077	52517068	Xp11.22	Xp11.22	300289	XAGE1B, XAGE1C, XAGE1D, XAGE1E	X antigen family, member 1B	XAGE1B	653067	ENSG00000204382			
chrX	52622935	52633948	Xp11.22	Xp11.22	300543	SSX8	Sarcoma, synovial, X breakpoint 8	SSX8P	280659	ENSG00000290686			
chrX	52644061	52654900	Xp11.22	Xp11.22	300542	SSX7	Sarcoma, synovial, X breakpoint 7	SSX7	280658	ENSG00000187754			Ssxa1,Ssxb1,Ssxb10,Ssxb13,Ssxb14,Ssxb15,Ssxb16,Ssxb3,Ssxb5,Ssxb8,Ssxb9 (MGI:1915235,MGI:2446772,MGI:2446773,MGI:2446774,MGI:2446777,MGI:2446778,MGI:2446779,MGI:2446782,MGI:3642927,MGI:3647394,MGI:3650385)
chrX	52696896	52707227	Xp11.22	Xp11.22	300192	SSX2	Sarcoma, synovial, X breakpoint 2	SSX2	6757	ENSG00000241476		?Sarcoma, synovial, 300813 (3)	Ssxa1,Ssxb1,Ssxb10,Ssxb13,Ssxb14,Ssxb15,Ssxb16,Ssxb3,Ssxb5,Ssxb8,Ssxb9 (MGI:1915235,MGI:2446772,MGI:2446773,MGI:2446774,MGI:2446777,MGI:2446778,MGI:2446779,MGI:2446782,MGI:3642927,MGI:3647394,MGI:3650385)
chrX	52796144	52797427	Xp11	Xp11.22	300668	SPANXN5	SPANX family, member N5	SPANXN5	494197	ENSG00000204363			
chrX	52811287	52818301	Xp11.22	Xp11.22	301063	XAGE5	X antigen family, member 5	XAGE5	170627	ENSG00000171405			
chrX	52862528	52868083	Xp11.22	Xp11.22	300740	XAGE3, PLAC6	X antigen family, member 3	XAGE3	170626	ENSG00000171402			
chrX	53048789	53080615	Xp11.22	Xp11.22	300253	GPR173, SREB3	G protein-coupled receptor 173	GPR173	54328	ENSG00000184194			Gpr173 (MGI:1918021)
chrX	53082367	53088540	Xp11.2	Xp11.22	300564	TSPYL2, CDA1, DENTT, CINAP	TSPY-like 2	TSPYL2	64061	ENSG00000184205			Tspyl2 (MGI:106244)
chrX	53094142	53147921	Xp11.22	Xp11.22	301019	KANTR, LINC01155	KDM5C adjacent transcript, noncoding	KANTR	102723508	ENSG00000232593			Kantr (MGI:1920247)
chrX	53176277	53225207	Xp11.22-p11.21	Xp11.22	314690	KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ	Lysine demethylase 5C	KDM5C	8242	ENSG00000126012	escapes inactivation	Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, 300534 (3), X-linked recessive	Kdm5c (MGI:99781)
chrX	53225813	53321350	Xp11.22	Xp11.22	300522	IQSEC2, KIAA0522, MRX1, MRX78, XLID1	IQ motif- and Sec7 domain-containing protein 2	IQSEC2	23096	ENSG00000124313		Intellectual developmental disorder, X-linked 1, 309530 (3), X-linked dominant	Iqsec2 (MGI:3528396)
chrX	53374149	53422728	Xp11.22-p11.21	Xp11.22	300040	SMC1A, SMC1L1, SMC1, DXS423E, KIAA0178, CDLS2, DEE85	Segregation of mitotic chromosomes 1 (SMC1, yeast, homolog of; DXS423E; SB1.8)	SMC1A	8243	ENSG00000072501	escapes lyonization	Cornelia de Lange syndrome 2, 300590 (3), X-linked dominant; Developmental and epileptic encephalopathy 85, with or without midline brain defects, 301044 (3), X-linked dominant	Smc1a (MGI:1344345)
chrX	53431258	53434376	Xp11.2	Xp11.22	300256	HSD17B10, HADH2, ERAB, MRXS10, HSD10MD	17-beta-hydroxysteroid dehydrogenase X	HSD17B10	3028	ENSG00000072506		HSD10 mitochondrial disease, 300438 (3), X-linked dominant	Hsd17b10 (MGI:1333871)
chrX	53532096	53686719	Xp11.2	Xp11.22	300697	HUWE1, UREB1, KIAA0312, LASU1, MRXST	HECT, UBA, and WWE domains-containing protein 1	HUWE1	10075	ENSG00000086758		Intellectual developmental disorder, X-linked syndromic, Turner type, 309590 (3), X-linked	Huwe1 (MGI:1926884)
chrX	53556223	53556341	Xp11.22	Xp11.22	300810	MIR98, MIRN98	Micro RNA 98	MIR98	407054	ENSG00000271886			Mir98 (MGI:3619441)
chrX	53557192	53557274	Xp11.22	Xp11.22	300721	MIRLET7F2, LET7F2, MIRNLET7F2	Micro RNA Let7f2	MIRLET7F2	406889	ENSG00000208012			Mirlet7f-2 (MGI:2676799)
chrX	53936680	54048936	Xp11.2	Xp11.22	300560	PHF8, ZNF422, KIAA1111, MRXSSD	PHD finger protein 8	PHF8	23133	ENSG00000172943		Intellectual developmental disorder, X-linked syndromic, Siderius type, 300263 (3), X-linked recessive	Phf8 (MGI:2444341)
chrX	54068324	54183254	Xp11.2	Xp11.22	300741	FAM120C, CXorf17	Family with sequence similarity 120, member C	FAM120C	54954	ENSG00000184083			Fam120c (MGI:2387687)
chrX	54192823	54358900	Xp11.2	Xp11.22	300358	WNK3, PRKWNK3, KIAA1566, PRS	WNK lysine deficient protein kinase 3	WNK3	65267	ENSG00000196632		Prieto syndrome, 309610 (3), X-linked recessive	Wnk3 (MGI:2652875)
chrX	54440404	54448032	Xp11.22	Xp11.22	300945	TSR2, WGG1, DBA14	TSR2, 20S rRNA accumulation, S. cerevisiae, homolog of	TSR2	90121	ENSG00000158526	mutation identified in 1 DBA14 family	?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3), X-linked recessive	Tsr2 (MGI:1916749)
chrX	54445454	54496234	Xp11.21	Xp11.22	300546	FGD1, FGDY, AAS, MRXS16	FYVE, RhoGEF, and PH domain-containing protein 1	FGD1	2245	ENSG00000102302		Intellectual developmental disorder, X-linked syndromic 16, 305400 (3), X-linked recessive; Aarskog-Scott syndrome, 305400 (3), X-linked recessive	Fgd1 (MGI:104566)
chrX	54530219	54645854	Xp11.22	Xp11.22	300873	GNL3L	Guanine nucleotide binding protein-like 3-like protein	GNL3L	54552	ENSG00000130119			Gnl3l (MGI:2448557)
chrX	54807745	54816015	Xp11.2	Xp11.21	300470	MAGED2, MAGED, BARTS5	Melanoma antigen, family D, 2	MAGED2	10916	ENSG00000102316		Bartter syndrome, type 5, antenatal, transient, 300971 (3), X-linked recessive	Maged2 (MGI:1933391)
chrX	54814370	54814500	Xp11.21	Xp11.21	300662	SNORA11	Small nucleolar RNA, H/ACA box, 11	SNORA11	677799	ENSG00000221716	in intron 1 of MAGED2		
chrX	54920824	54931431	Xp11.22-p11.21	Xp11.21	300132	TRO	Trophinin	TRO	7216	ENSG00000067445			Tro (MGI:1928994)
chrX	54932961	54998789	Xp11.21	Xp11.21	311790	PFKFB1, PFRX	Fructose-2,6-bisphosphatase	PFKFB1	5207	ENSG00000158571	?Xq27-q25; ?Xcen-q13		Pfkfb1 (MGI:107816)
chrX	55000363	55009057	Xp11.21	Xp11.21	300773	APEX2, APE2, XTH2, APEXL2	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	APEX2	27301	ENSG00000169188			Apex2 (MGI:1924872)
chrX	55009055	55030977	Xp11.21	Xp11.21	301300	ALAS2, ANH1, ASB, XLEPP, XLSA, SIDBA1	Aminolevulinate, delta-, synthase-2	ALAS2	212	ENSG00000158578		Anemia, sideroblastic, 1, 300751 (3), X-linked recessive; Protoporphyria, erythropoietic, X-linked, 300752 (3), X-linked	Alas2 (MGI:87990)
chrX	55089018	55092842	Xp11.21	Xp11.21	300738	PAGE2, GAGEC2	P antigen family, member 2	PAGE2	203569	ENSG00000234068			
chrX	55143102	55161185	Xp11.21	Xp11.21	301141	VCF2, FAM104B	VCP nuclear cofactor family, member 2	VCF2	90736	ENSG00000182518			
chrX	55220346	55224108	Xp11.21	Xp11.21	301009	PAGE5, CT16, GAGEE1	P antigen family, member 5	PAGE5	90737	ENSG00000158639			
chrX	55258415	55264916	Xp11.21	Xp11.21	300739	PAGE3, GAGEC1	P antigen family, member 3	PAGE3	139793	ENSG00000204279			
chrX	55452127	55453566	Xp11.21	Xp11.21	300548	MAGEH1, MAGEH	Melanoma antigen, family H, 1	MAGEH1	28986	ENSG00000187601			Mageh1 (MGI:1922875)
chrX	55623400	55626192	Xp11.21	Xp11.21	300949	FOXR2, FOXN6	Forkhead box R2	FOXR2	139628	ENSG00000189299			Foxr2 (MGI:3511682)
chrX	55717749	55758774	Xp11.21	Xp11.21	300725	RRAGB, RAGB	Ras-related GTP-binding protein B	RRAGB	10325	ENSG00000083750			Rragb (MGI:3038613)
chrX	55908123	56291531	Chr.X	Xp11.21	300286	KLF8, ZNF741, BKLF3	Kruppel-like factor 8	KLF8	11279	ENSG00000102349			Klf8 (MGI:2442430)
chrX	56563627	56567868	Xp11.23-p11.1	Xp11.21	300264	UBQLN2, PLIC2, CHAP1, ALS15	Ubiquilin 2	UBQLN2	29978	ENSG00000188021		Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3), X-linked dominant	Ubqln2 (MGI:1860283)
chrX	56729243	56819179	Xp11.1	Xp11.21	300992	NBDY, LINC01420, NOBODY	Negative regulator of P-body association	NBDY	550643	ENSG00000204272			Nbdy (MGI:1917373)
chrX	57119682	57121548	Xp11.21	Xp11.21	300517	SPIN2	Spindlin family, member 2	SPIN2B	474343	ENSG00000186787			Spin2-ps1,Spin2-ps10,Spin2-ps2,Spin2-ps3,Spin2-ps4,Spin2-ps7,Spin2-ps8,Spin2-ps9,Spin2c,Spin2d,Spin2e,Spin2h,Spin2i,Spin2j (MGI:1922101,MGI:3605548,MGI:3645574,MGI:3645924,MGI:3647272,MGI:3650966,MGI:3705652,MGI:3781026,MGI:3781070,MGI:3781932,MGI:3805546,MGI:5434821,MGI:5434847,MGI:5434992)
chrX	57121591	57489196	Xp11	Xp11.21	300654	FAAH2	Fatty acid amide hydrolase 2	FAAH2	158584	ENSG00000165591			
chrX	57134265	57147180	Xp11.21	Xp11.21	300621	DSF34	DXF34 gene	SPIN2A	54466	ENSG00000147059			Spin2-ps1,Spin2-ps10,Spin2-ps2,Spin2-ps3,Spin2-ps4,Spin2-ps7,Spin2-ps8,Spin2-ps9,Spin2c,Spin2d,Spin2e,Spin2h,Spin2i,Spin2j (MGI:1922101,MGI:3605548,MGI:3645574,MGI:3645924,MGI:3647272,MGI:3650966,MGI:3705652,MGI:3781026,MGI:3781070,MGI:3781932,MGI:3805546,MGI:5434821,MGI:5434847,MGI:5434992)
chrX	57592011	57597477	Xp11.21	Xp11.21	300236	ZXDB	Zinc finger-encoding gene, X-linked, duplicated, B	ZXDB	158586	ENSG00000198455			Zxdb (MGI:3694898)
chrX	57905430	57910458	Xp11.21	Xp11.21	300235	ZXDA	Zinc finger-encoding gene, X-linked, duplicated, A	ZXDA	7789	ENSG00000198205			Zxdb (MGI:3694898)
chrX	61000001	68500000	Xq11-q12		300710	AGA2	Alopecia, androgenetic, 2		100188771		associated with rs6152	Alopecia, androgenetic, 2, 300710 (2)	
chrX	61000001	156040895	Xq		300082	CGF1	Cognitive function-1, social		1083		imprinted locus	[Social cognition], 300082 (2), X-linked	
chrX	61000001	156040895	Xq		300010	DXS435E, A11	A-11 gene						
chrX	61000001	156040895	Xq		300125	MGR2	Migraine, familial typical, susceptibility to, 2		8249			{Migraine, familial typical, susceptibility to, 2}, 300125 (2), X-linked	
chrX	61000001	156040895	Xq		300259	MTBSX	Mycobacterium tuberculosis, susceptibility to, X-linked		57789			{Mycobacterium tuberculosis, susceptibility, X-linked}, 300259 (2)	
chrX	63347228	63351332	Xq11.1	Xq11.1	301113	SPIN4, LJBS	Spindlin family, member 4	SPIN4	139886	ENSG00000186767	mutation identified in 1 LJBS family	?Lui-Jee-Baron syndrome, 301114 (3), X-linked	Spin4 (MGI:2444925)
chrX	63634967	63785214	Xq22.1	Xq11.1	300429	ARHGEF9, PEM2, KIAA0424, DEE8	Rho guanine nucleotide exchange factor 9	ARHGEF9	23229	ENSG00000131089		Developmental and epileptic encephalopathy 8, 300607 (3), X-linked	Arhgef9 (MGI:2442233)
chrX	63800001	65400000	Xq11.2		300266	SPG16	Spastic paraplegia 16, X-linked, complicated		57760			Spastic paraplegia 16, X-linked, complicated, 300266 (2), X-linked recessive	
chrX	64185117	64205708	Xq11.1	Xq11.2	300647	AMER1, FAM123B, WTX, OSCS	APC membrane recruitment protein 1	AMER1	139285	ENSG00000184675		Osteopathia striata with cranial sclerosis, 300373 (3), X-linked dominant	Amer1 (MGI:1919595)
chrX	64224194	64230607	Xq11.2	Xq11.2	300891	ASB12	Ankyrin repeat- and SOCS box-containing protein 12	ASB12	142689	ENSG00000198881			Asb12 (MGI:1917642)
chrX	64268081	64395452	Xq11.2	Xq11.2	301061	MTMR8	Myotubularin-related protein 8	MTMR8	55613	ENSG00000102043			
chrX	64915807	65034741	Xq11.2	Xq11.2	300897	ZC4H2, KIAA1166, WRWF, MRXS4, WRWFFR	Zinc finger C4H2 domain-containing protein	ZC4H2	55906	ENSG00000126970		Wieacker-Wolff syndrome, 314580 (3), X-linked recessive; Wieacker-Wolff syndrome, female-restricted, 301041 (3), X-linked dominant	Zc4h2 (MGI:2679294)
chrX	65034826	65507887	Xq12	Xq11.2-q12	300889	ZC3H12B, MCPIP2	Zinc finger CCCH domain-containing protein 12B	ZC3H12B	340554	ENSG00000102053			Zc3h12b (MGI:2442133)
chrX	65400001	92700000	Xq12-q21.31		300709	MRXS9	Intellectual developmental disorder, X-linked, syndromic 9				between DXS1111 and DXS1197	Intellectual developmental disorder, X-linked syndromic 9, 300709 (2)	
chrX	65400001	99100000	Xq12-q21.3		300454	XLID77, MRX77	Intellectual developmental disorder, X-linked 77		93991			Intellectual developmental disorder, X-linked 77, 300454 (2), X-linked recessive	
chrX	65512582	65534787	Xq12	Xq12	300964	LAS1L, MRXSWTS	Las1-like ribosome biogenesis factor	LAS1L	81887	ENSG00000001497		Wilson-Turner syndrome, 309585 (3), X-linked recessive	Las1l (MGI:1923380)
chrX	65588377	65741931	Xq11.2-q12	Xq12	309845	MSN, IMD50	Moesin	MSN	4478	ENSG00000147065		Immunodeficiency 50, 300988 (3), X-linked recessive	Msn (MGI:97167)
chrX	66018870	66018979	Xq12	Xq12	300694	MIR223, MIRN223	Micro RNA 223	MIR223	407008	ENSG00000284567			Mir223 (MGI:2684360)
chrX	66021738	66040080	Xq12	Xq12	300353	Z39IG	Immunoglobulin superfamily protein Z39IG	VSIG4	11326	ENSG00000155659			Vsig4 (MGI:2679720)
chrX	66162671	66268863	Xq11-q12	Xq12	300167	HEPH	Hephaestin	HEPH	9843	ENSG00000089472			Heph (MGI:1332240)
chrX	66595637	66639269	Xq12	Xq12	300276	EDAR2, XEDAR, EDAA2R	Ectodysplasin A2 receptor	EDA2R	60401	ENSG00000131080			Eda2r (MGI:2442860)
chrX	67544021	67730619	Xq11-q12	Xq12	313700	AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1	Androgen receptor (dihydrotestosterone receptor)	AR	367	ENSG00000169083		Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked recessive; Spinal and bulbar muscular atrophy, X-linked 1, 313200 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 301120 (3), X-linked; Androgen insensitivity, 300068 (3), X-linked recessive; Hypospadias 1, X-linked, 300633 (3), X-linked recessive	Ar (MGI:88064)
chrX	68042344	68433841	Xq12	Xq12	300127	OPHN1, MRXSBL	Oligophrenin-1	OPHN1	4983	ENSG00000079482		Intellectual developmental disorder, X-linked syndromic, Billuart type, 300486 (3), X-linked recessive	Ophn1 (MGI:2151070)
chrX	68499051	68537282	Xq12-q13.1	Xq12-q13.1	300996	YIPF6	YIP1 domain family, member 6	YIPF6	286451	ENSG00000181704			Yipf6 (MGI:1925179)
chrX	68500001	103300000	Xq13.1-q22.1		300580	CFTDX	Myopathy, congenital, with fiber-type disproportion, X-linked		100188765		between DXS8019 and DXS99	Myopathy, congenital, with fiber-type disproportion, X-linked, 300580 (2), X-linked dominant	
chrX	68500001	99100000	Xq13-q21		300519	MRXSMP	Martin-Probst syndrome		574047			Martin-Probst syndrome, 300519 (2), X-linked recessive	
chrX	68500001	76800000	Xq13		300074	XCE, XITE	X chromosome-controlling element		7497				
chrX	68647666	68725836	Xq13.1	Xq13.1	300689	STARD8, DLC3, STARTGAP3, KIAA0189	START domain-containing protein 8	STARD8	9754	ENSG00000130052			Stard8 (MGI:2448556)
chrX	68829021	68842160	Xq12	Xq13.1	300035	EFNB1, EPLG2, CFNS, CFND	eph-related receptor tyrosine kinase ligand 2 (ephrin B1)	EFNB1	1947	ENSG00000090776	?CFNS also on Xp22	Craniofrontonasal dysplasia, 304110 (3), X-linked dominant	Efnb1 (MGI:102708)
chrX	69160746	69165453	Xq13.1	Xq13.1	300420	PJA1	Praja RING finger ubiquitin ligase 1	PJA1	64219	ENSG00000181191			Pja1 (MGI:1101765)
chrX	69616113	70039472	Xq12-q13.1	Xq13.1	300451	EDA, ED1, ECTD1, HED1, STHAGX1	Ectodysplasin A	EDA	1896	ENSG00000158813		Tooth agenesis, selective, X-linked 1, 313500 (3), X-linked dominant; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3), X-linked recessive	Eda (MGI:1195272)
chrX	70040542	70049938	Xq13.1	Xq13.1	300925	AWAT2, DC4, MFAT	Acyl-CoA wax alcohol acyltransferase 2	AWAT2	158835	ENSG00000147160			Awat2 (MGI:3045345)
chrX	70062457	70064179	Xq13.1	Xq13.1	300714	OTUD6A, DUBA2	OTU domain-containing protein 6A	OTUD6A	139562	ENSG00000189401			Otud6a (MGI:3644685)
chrX	70133447	70166324	Xq13.1-q13.3	Xq13.1	300139	IGBP1, MRXS28	Immunoglobulin-binding protein 1	IGBP1	3476	ENSG00000089289	mutation identified in 1 MRXS28 family	?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, 300472 (3), X-linked recessive	Igbp1 (MGI:1346500)
chrX	70177483	70205704	Xq13.1	Xq13.1	300926	DGAT2L6, DC3	Diacylglycerol O-acyltransferase 2-like 6	DGAT2L6	347516	ENSG00000184210			Dgat2l6 (MGI:3045268)
chrX	70234655	70240659	Xq13.1	Xq13.1	300924	AWAT1, DGA2	Acyl-CoA wax alcohol acyltransferase 1	AWAT1	158833	ENSG00000204195			Awat1 (MGI:3588200)
chrX	70258166	70260204	Xq13	Xq13.1	300038	P2RY4, NRU, P2Y4	Pyrimidinergic receptor P2Y, G-protein coupled, 4	P2RY4	5030	ENSG00000186912			P2ry4 (MGI:1926594)
chrX	70268334	70281883	Xcen-q21	Xq13.1	301770	ARR3, MYP26	Arrestin 3, retinal	ARR3	407	ENSG00000120500		Myopia 26, X-linked, female-limited, 301010 (3), X-linked	Arr3 (MGI:2159617)
chrX	70286595	70289927	Xq13.1	Xq13.1	300632	PDZD11, AIPP1, PISP	PDZ domain-containing 11	PDZD11	51248	ENSG00000120509			Pdzd11 (MGI:1919871)
chrX	70290104	70420886	Xq13.1	Xq13.1	300521	KIF4A, KIF4, XLID100, TMDI	Kinesin family member 4A	KIF4A	24137	ENSG00000090889		Taurodontism, microdontia, and dens invaginatus, 313490 (3), X-linked recessive; Intellectual developmental disorder, X-linked 100, 300923 (3), X-linked recessive	Kif4 (MGI:108389)
chrX	70423314	70433381	Xq13.1	Xq13.1	300940	GDPD2, GDE3	Glycerophosphodiester phosphodiesterase domain-containing protein 2	GDPD2	54857	ENSG00000130055			Gdpd2 (MGI:1918834)
chrX	70444835	70505490	Xq13.1	Xq13.1	300189	DLG3, NEDLG, SAP102, XLID90	Discs large MAGUK scaffold protein 3	DLG3	1741	ENSG00000082458		Intellectual developmental disorder, X-linked 90, 300850 (3), X-linked recessive	Dlg3 (MGI:1888986)
chrX	70511227	70908711	Xq13.1	Xq13.1	300311	TEX11, SPGFX2	Testis-expressed gene 11	TEX11	56159	ENSG00000120498		Spermatogenic failure, X-linked 2, 309120 (3), X-linked recessive	Tex11 (MGI:1933237)
chrX	70925579	70931096	Xq13.1	Xq13.1	300443	SLC7A3, CAT3	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	SLC7A3	84889	ENSG00000165349			Slc7a3 (MGI:1100521)
chrX	71059247	71073426	Xq13.1	Xq13.1	300883	SNX12	Sorting nexin 12	SNX12	29934	ENSG00000147164			Snx12 (MGI:1919331)
chrX	71095851	71103532	Xq13.1	Xq13.1	300033	FOXO4, MLLT7, AFX1	Forkhead box O4	FOXO4	4303	ENSG00000184481			Foxo4 (MGI:1891915)
chrX	71107404	71111577	Xq13	Xq13.1	308380	IL2RG, SCIDX1, SCIDX, IMD4	Interleukin-2 receptor, gamma	IL2RG	3561	ENSG00000147168	linked to DXS159	Combined immunodeficiency, X-linked, moderate, 312863 (3), X-linked recessive; Severe combined immunodeficiency, X-linked, 300400 (3), X-linked recessive	Il2rg (MGI:96551)
chrX	71118596	71142450	Xq13	Xq13.1	300188	MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX, HDKR	Mediator complex subunit 12	MED12	9968	ENSG00000184634		Lujan-Fryns syndrome, 309520 (3), X-linked recessive; Ohdo syndrome, X-linked, 300895 (3), X-linked recessive; Hardikar syndrome, 301068 (3), X-linked dominant; Opitz-Kaveggia syndrome, 305450 (3), X-linked recessive	Med12 (MGI:1926212)
chrX	71144841	71175307	Xq13	Xq13.1	300336	NLGN3, AUTSX1	Neuroligin 3	NLGN3	54413	ENSG00000196338		{Autism susceptibility, X-linked 1}, 300425 (3), X-linked	Nlgn3 (MGI:2444609)
chrX	71215239	71225516	Xq13.1	Xq13.1	304040	GJB1, CX32, CMTX1	Gap junction protein, beta-1, 32kD (connexin 32)	GJB1	2705	ENSG00000169562		Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3), X-linked dominant	Gjb1 (MGI:95719)
chrX	71239624	71255290	Xq13.1	Xq13.1	300061	ZMYM3, ZNF261, DXS6673E, XLID112	Zinc finger, MYM-type 3	ZMYM3	9203	ENSG00000147130		Intellectual developmental disorder, X-linked 112, 301111 (3), X-linked recessive	Zmym3 (MGI:1927231)
chrX	71283635	71301168	Xq13.1	Xq13.1	300084	NONO, NRB54, MRXS34	Non-Pou domain-containing octamer (ATGCAAAT) binding protein (nuclear RNA-binding protein, 54-kD)	NONO	4841	ENSG00000147140	2Mb proximal to PHKA1	Intellectual developmental disorder, X-linked syndromic 34, 300967 (3), X-linked	Nono (MGI:1855692)
chrX	71301750	71305371	Xq12-q13	Xq13.1	300332	ITGB1BP2	Integrin, beta-1, binding protein of, 2	ITGB1BP2	26548	ENSG00000147166			Itgb1bp2 (MGI:1353420)
chrX	71366357	71530525	Xq13	Xq13.1	313650	TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33	TATA-box binding protein-associated factor 1	TAF1	6872	ENSG00000147133	SVA retrotransposon insertion	Intellectual developmental disorder, X-linked syndromic 33, 300966 (3), X-linked recessive; Dystonia-Parkinsonism, X-linked, 314250 (3), X-linked recessive	Taf1 (MGI:1336878)
chrX	71491681	71492449	Xq12	Xq13.1	300452	INGX, ING2	Inhibitor of growth, X-linked	INGX	27160	ENSG00000293133			
chrX	71533104	71575892	Xq13	Xq13.1	300255	OGT, XLID106	O-linked N-acetylglucosamine transferase	OGT	8473	ENSG00000147162		Intellectual developmental disorder, X-linked 106, 300997 (3), X-linked recessive	Ogt (MGI:1339639)
chrX	71578437	71613583	Xq13.1	Xq13.1	300369	GCNA, ACRC, SPGFX4	Germ cell nuclear acidic peptidase	GCNA	93953	ENSG00000147174		Spermatogenic failure, X-linked, 4, 301077 (3), X-linked	
chrX	71615919	71618511	Xq13	Xq13.1	300574	CXCR3, GPR9, CD182	Chemokine, C-X-C motif, receptor 3 (G protein-coupled receptor-9)	CXCR3	2833	ENSG00000186810	previously assigned to chr.8		Cxcr3 (MGI:1277207)
chrX	71910845	72153286	Xq13.1	Xq13.1	301093	NHSL2	NHS-like protein 2	NHSL2	340527	ENSG00000204131			Nhsl2 (MGI:3645090)
chrX	72127110	72131915	Xq13.1	Xq13.1	301135	RTL5, SIRH8, RGAG4, MART5	Retrotransposon GAG-like protein 5	RTL5	340526	ENSG00000242732			Rtl5 (MGI:3045324)
chrX	72181676	72263964	Xq13	Xq13.1	300252	PIN4, PAR14, EPVH	Peptidyl-prolyl cis/trans isomerase, nima-interacting, 4	PIN4	5303	ENSG00000102309			Pin4 (MGI:1916963)
chrX	72204665	72239027	Xq13.1	Xq13.1	300687	ERCC6L, PICH	ERCC excision repair 6-like, spindle assembly checkpoint helicase	ERCC6L	54821	ENSG00000186871			Ercc6l (MGI:2654144)
chrX	72272042	72277248	Xq13.1	Xq13.1	312760	RPS4X, CCG2, SCAR	Ribosomal protein S4, X-linked	RPS4X	6191	ENSG00000198034	cen-RPS4X-PHKA1-XIST-qter in 2.6Mb		Rps4x (MGI:98158)
chrX	72301646	72307157	Xq13.1	Xq13.1	300149	MSG1	Melanocyte-specific gene 1	CITED1	4435	ENSG00000125931			Cited1 (MGI:108023)
chrX	72329516	72572843	Xq13	Xq13.1	300269	HDAC8, MRXS6, CDLS5	Histone deacetylase 8	HDAC8	55869	ENSG00000147099		Cornelia de Lange syndrome 5, 300882 (3), X-linked dominant	Hdac8 (MGI:1917565)
chrX	72578814	72714306	Xq13	Xq13.1	311870	PHKA1	Phosphorylase kinase, muscle, alpha polypeptide	PHKA1	5255	ENSG00000067177	?proximal and close to PGKA;	Muscle glycogenosis, 300559 (3), X-linked recessive	Phka1 (MGI:97576)
chrX	72872025	72943837	Xq13	Xq13.1	300878	DMRTC1	Doublesex- and MAB3-related transcription factor C1	DMRTC1	63947	ENSG00000269502			Dmrtc1a (MGI:1918137)
chrX	73000001	76800000	Xq13.2-q13.3		301069	DUPXq13	Chromosome Xq13 duplication syndrome					Chromosome Xq13 duplication syndrome, 301069 (4), X-linked	
chrX	73000001	74700000	Xq13.2		300262	MRXSAB	Intellectual developmental disorder, X-linked, Abidi type		57792			Intellectual developmental disorder, X-linked syndromic, Abidi type, 300262 (2), X-linked	
chrX	73212299	73214851	Xq13.2	Xq13.2	300026	NAP1L2, BPX	Nucleosome assembly protein 1-like 2	NAP1L2	4674	ENSG00000186462			Nap1l2 (MGI:106654)
chrX	73447053	73455171	Xq13.2	Xq13.2	300025	CDX4	Caudal type homeobox transcription factor 4	CDX4	1046	ENSG00000131264			Cdx4 (MGI:88362)
chrX	73563148	73687111	Xq13.2	Xq13.2	300922	CHIC1, BRX	Cystein-rich hydrophobic domain protein 1	CHIC1	53344	ENSG00000204116			Chic1 (MGI:1344694)
chrX	73792205	73829231	Xq13.2	Xq13.2	300181	TSIX	X-inactivation-specific transcript-antisense	TSIX	9383	ENSG00000270641			Tsix (MGI:1336196)
chrX	73820656	73852714	Xq13.2	Xq13.2	314670	XIC, XCE, XIST, SXI1	X chromosome controlling element (X-inactivation center)	XIST	7503	ENSG00000229807	q13-q21; metaphase bend, or fold, at q13.3-q21.1	X-inactivation, familial skewed, 300087 (3), X-linked	Xist (MGI:98974)
chrX	73944324	74070384	Xq13.2	Xq13.2	300832	NCRNA00183, JPX, ENOX	Noncoding RNA 183	JPX	554203	ENSG00000225470			Jpx (MGI:2180008)
chrX	74028136	74293574	Xq13.2	Xq13.2	300936	FTX, LINC00182	FTX transcript, XIST regulator, noncoding	FTX	100302692	ENSG00000230590			Ftx (MGI:1926128)
chrX	74304180	74305034	Xq13	Xq13.2	301125	ZCCHC13, CNBP2	Zinc finger domain-containing protein 13	ZCCHC13	389874	ENSG00000187969			Zcchc13 (MGI:1922314)
chrX	74421493	74533916	Xq13.2	Xq13.2	300095	SLC16A2, DXS128, XPCT	Solute carrier family 16 (monocarboxylic acid transporters), member 2	SLC16A2	6567	ENSG00000147100		Allan-Herndon-Dudley syndrome, 300523 (3), X-linked	Slc16a2 (MGI:1203732)
chrX	74582976	74614624	Xq13-q21	Xq13.2	300379	RLIM, RNF12, TOKAS	RING finger protein, LIM domain-interacting	RLIM	51132	ENSG00000131263		Tonne-Kalscheuer syndrome, 300978 (3), X-linked	Rlim (MGI:1342291)
chrX	74700001	76800000	Xq13.3		300577	XLID91, MRX91	Intellectual developmental disorder, X-linked 91				t(X;15)(q13.3;cen)	Intellectual developmental disorder, X-linked 91, 300577 (4), X-linked dominant	
chrX	74732856	74925452	Xq13.2	Xq13.3	300524	NEXMIF, KIAA2022, XLID98	Neurite extension and migration factor	NEXMIF	340533	ENSG00000050030	inv(X)(q13;p22)	Intellectual developmental disorder, X-linked 98, 300912 (3), X-linked dominant	Nexmif (MGI:2148050)
chrX	75051048	75156283	Xq13.3	Xq13.3	300135	ABCB7, ABC7, ASAT	ATP-binding cassette-7	ABCB7	22	ENSG00000131269		Anemia, sideroblastic, with ataxia, 301310 (3), X-linked	Abcb7 (MGI:109533)
chrX	75156369	75304897	Xq13.3	Xq13.3	300656	UPRT	Uracil phosphoribosyltransferase, S. cerevisiae, homolog of	UPRT	139596	ENSG00000094841			Uprt (MGI:2685620)
chrX	75368427	75523037	Xq13.3	Xq13.3	300576	ZDHHC15	Zinc finger DHHC domain-containing protein 15	ZDHHC15	158866	ENSG00000102383			Zdhhc15 (MGI:1915336)
chrX	75582654	75585917	Xq13.3	Xq13.3	300956	BRAFP1	BRAF pseudogene 1	BRAFP1	286494	ENSG00000224775			
chrX	75782987	75785254	Xq13.1	Xq13.3	300760	MAGEE2	Melanoma antigen, family E, 2	MAGEE2	139599	ENSG00000186675			Magee2 (MGI:2148316)
chrX	76427710	76431342	Xq13.1	Xq13.3	300759	MAGEE1, DAMAGE, KIAA1587	Melanoma antigen, family E, 1	MAGEE1	57692	ENSG00000198934			Magee1 (MGI:2148149)
chrX	76800001	99100000	Xq21		303110	DELXq21, CXDELq21	Chromosome Xq21 deletion syndrome				at least CHM and POU3F4 deleted	Xq21 deletion syndrome, 303110 (4), X-linked recessive	
chrX	76800001	129500000	Xq21-q25		300557	PARK12	Parkinson disease-12		677662		max lod with DXS1106, DXS8055, DXS1001	{Parkinson disease 12}, 300557 (2)	
chrX	77447389	77457278	Xq21.1	Xq21.1	300827	FGF16, MF4	Fibroblast growth factor 16	FGF16	8823	ENSG00000196468	previously mapped to 8q21.3	Metacarpal 4-5 fusion, 309630 (3), X-linked recessive	Fgf16 (MGI:1931627)
chrX	77504880	77786216	Xq13	Xq21.1	300032	ATRX, XH2, XNP, SHS, SFM1, MRXHF1	ATRX chromatin remodeler	ATRX	546	ENSG00000085224		Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Intellectual disability-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive; Alpha-thalassemia/impaired intellectual development syndrome, 301040 (3), X-linked dominant	Atrx (MGI:103067)
chrX	77825747	77895568	Xq13.1-q13.2	Xq21.1	300715	MAGT1, IAP, XMEN, CDG1CC	Magnesium transporter 1	MAGT1	84061	ENSG00000102158		Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3), X-linked recessive; Congenital disorder of glycosylation, type Icc, 301031 (3), X-linked recessive	Magt1 (MGI:1914325)
chrX	77899468	77907376	Xq21.1	Xq21.1	300885	COX7B, LSDMCA2	Cytochrome c oxidase, subunit VIIb	COX7B	1349	ENSG00000131174		Linear skin defects with multiple congenital anomalies 2, 300887 (3), X-linked dominant	Cox7b (MGI:1913392)
chrX	77910693	78050395	Xq12-q13	Xq21.1	300011	ATP7A, MNK, MK, OHS, HMNX	ATPase, Cu++ transporting, alpha polypeptide	ATP7A	538	ENSG00000165240	probably Xq13.2-q13.3, ~150kb prox. to PGK1	Occipital horn syndrome, 304150 (3), X-linked recessive; Neuronopathy, distal hereditary motor, X-linked, 300489 (3), X-linked recessive; Menkes disease, 309400 (3), X-linked recessive	Atp7a (MGI:99400)
chrX	77967949	77969638	Xq13.3	Xq21.1	300567	PGAM4, PGAM3	Phosphoglycerate mutase family member 4	PGAM4	441531	ENSG00000226784			Pgam1 (MGI:97552)
chrX	78104248	78129295	Xq13	Xq21.1	311800	PGK1, PGKA	Phosphoglycerate kinase-1	PGK1	5230	ENSG00000102144	?Xq13.3; pseudogenes PGK1P1 on Xq, PGK1P2 on chr. 6	Phosphoglycerate kinase 1 deficiency, 300653 (3), X-linked recessive	Pgk1 (MGI:97555)
chrX	78129748	78139650	Xq13.1-q22.1	Xq21.1	300754	TAF9B, TAF9L, TAFII31L	TAF9B RNA polymerase II, TATA box-binding protein-associated factor, 31kD	TAF9B	51616	ENSG00000187325			Taf9b (MGI:3039562)
chrX	78271468	78327611	Xq13-q21	Xq21.1	300201	CYSLTR1, CYSLT1	Cysteinyl leukotriene receptor 1	CYSLTR1	10800	ENSG00000173198			Cysltr1 (MGI:1926218)
chrX	78656068	78659328	Xq21.1	Xq21.1	301130	RTL3	Retrotransposon GAG-like 3	RTL3	203430	ENSG00000179300			Rtl3 (MGI:2685221)
chrX	78747720	78758714	Xq13-q21.1	Xq21.1	300086	LPAR4, LPA4, P2RY9, P2Y9, GPR23	Lysophosphatidic acid receptor 4	LPAR4	2846	ENSG00000147145			Lpar4 (MGI:1925384)
chrX	78945391	78963727	Xq21.1	Xq21.1	300529	P2RY10, P2Y10	Purinergic receptor P2Y, G protein-coupled, 10	P2RY10	27334	ENSG00000078589			P2ry10 (MGI:1926076)
chrX	79144688	79175318	Xq21.1	Xq21.1	300903	GPR174, GPCR17	G protein-coupled receptor 174	GPR174	84636	ENSG00000147138			Gpr174 (MGI:2685222)
chrX	79360384	79367334	Xq13.3-q21.2	Xq21.1	300222	ITM2A, E25A	Integral membrane protein 2A	ITM2A	9452	ENSG00000078596			Itm2a (MGI:107706)
chrX	80014753	80031774	Xq12-q21	Xq21.1	300307	TBX22, CPX, ABERS	T-box 22	TBX22	50945	ENSG00000122145	1 ABERS family identified with mutation	Cleft palate with ankyloglossia, 303400 (3), X-linked; ?Abruzzo-Erickson syndrome, 302905 (3), X-linked	Tbx22 (MGI:2389465)
chrX	80335504	80445309	Xq21.1	Xq21.1	300976	FAM46D	Family with sequence similarity 46, member D	TENT5D	169966	ENSG00000174016			Tent5d (MGI:2685223)
chrX	80669503	80809877	Xq13	Xq21.1	300553	BRWD3, MRX93, XLID93	Bromodomain-and WD repeat-containing protein 3	BRWD3	254065	ENSG00000165288		Intellectual developmental disorder, X-linked 93, 300659 (3), X-linked recessive	Brwd3 (MGI:3029414)
chrX	81113699	81201913	Xq13	Xq21.1	300385	NSBP1	Nucleosomal binding protein 1	HMGN5	79366	ENSG00000198157			Hmgn5 (MGI:1355295)
chrX	81202102	81298547	Xq13.3	Xq21.1	300190	SH3BGR	SH3-binding domain glutamic acid-rich protein-like	SH3BGRL	6451	ENSG00000131171			Sh3bgrl (MGI:1930849)
chrX	83508290	83512127	Xq21.1	Xq21.1	300039	POU3F4, DFN3, DFNX2	POU domain, class 3, transcription factor 4	POU3F4	5456	ENSG00000196767		Deafness, X-linked 2, 304400 (3), X-linked recessive	Pou3f4 (MGI:101894)
chrX	83861146	83886698	Xq21.1	Xq21.1	300768	CYLC1, SPGFX8	Cylicin 1	CYLC1	1538	ENSG00000183035		{Spermatogenic failure, X-linked, 8, susceptibility to}, 301119 (3), X-linked	Cylc1 (MGI:1914657)
chrX	84058346	84188499	Xq21	Xq21.1	300303	RPS6KA6, RSK4	Ribosomal protein S6 kinase A6	RPS6KA6	27330	ENSG00000072133			Rps6ka6 (MGI:1914321)
chrX	84317878	84502453	Xq21.1	Xq21.1	300994	HDX, CXorf43	Highly divergent homeobox	HDX	139324	ENSG00000165259			Hdx (MGI:2685226)
chrX	85003877	85093315	Xq21.2	Xq21.1	300955	APOOL, FAM121A, Cxorf33	Apolipoprotein O-like	APOOL	139322	ENSG00000155008			Apool (MGI:1915367)
chrX	85092284	85243779	Xq21.1	Xq21.1	301129	SATL1	Spermidine/spermine N1-acetyltransferase-like 1	SATL1	340562	ENSG00000184788			Satl1 (MGI:1921059)
chrX	85243991	85273357	Xq21.1-q21.3	Xq21.1	314990	ZNF711, ZNF6, CMPX1, XLID97	Zinc finger protein-711	ZNF711	7552	ENSG00000147180		Intellectual developmental disorder, X-linked 97, 300803 (3), X-linked	Zfp711 (MGI:3045342)
chrX	85277396	85379665	Xq21	Xq21.1	300603	FLJ22792, POF1B, POF2B	FLJ22792 gene	POF1B	79983	ENSG00000124429	mutation identified in 1 POF2B family	?Premature ovarian failure 2B, 300604 (3), X-linked recessive	Pof1b (MGI:1916943)
chrX	85861180	86047558	Xq21.2	Xq21.2	300390	CHM, TCD	CHM Rab escort protein	CHM	1121	ENSG00000188419		Choroideremia, 303100 (3), X-linked	Chm (MGI:892979)
chrX	86148451	86832602	Xq21.3	Xq21.2	300608	DACH2	Dachshund family transcription factor 2	DACH2	117154	ENSG00000126733			Dach2 (MGI:1890446)
chrX	87000001	99100000	Xq21.3		300756	AD16	Alzheimer disease 16		100271718		associated with rs5984894	{Alzheimer disease 16}, 300756 (2)	
chrX	87517802	87670050	Xq21.3	Xq21.31	300348	KLHL4	Kelch-like 4	KLHL4	56062	ENSG00000102271			Klhl4 (MGI:2442829)
chrX	88747225	88754781	Xq21.3	Xq21.31	301055	CPXCR1	CPX chromosome region, candidate gene 1	CPXCR1	53336	ENSG00000147183			Cpxcr1 (MGI:2685989)
chrX	89921908	89922883	Xp21.3	Xq21.31	300411	TGIF2LX, TGIFLX	Transforming growth factor-beta-induced factor 2-like, X-linked	TGIF2LX	90316	ENSG00000153779			Tgif2lx1,Tgif2lx2 (MGI:2387796,MGI:3800824)
chrX	91434839	91438584	Xq21.3	Xq21.31	300407	PABPC5, PABP5	Polyadenylate-binding protein, cytoplasmic, 5	PABPC5	140886	ENSG00000174740			Pabpc5 (MGI:2136401)
chrX	91779375	92623230	Xq21.3	Xq21.31	300246	PCDH11X, PCDH11, PCDHX	Protocadherin 11, X-linked	PCDH11X	27328	ENSG00000102290			Pcdh11x (MGI:2442849)
chrX	93670930	93673578	Xq21.3-q22	Xq21.32	300117	NAP1L3	Nucleosome assembly protein 1-like 3	NAP1L3	4675	ENSG00000186310			Nap1l3 (MGI:1859565)
chrX	94300001	117400000	Xq21.33-q23		300861	MRXSCS	Intellectual developmental disorder, X-linked, syndromic, Chudley-Schwartz type (2)		100820761		max lod at DXS1120	Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type, 300861 (2), X-linked recessive	
chrX	96684842	97604997	Xq22	Xq21.33	300108	DIAPH2, DIA, POF2A	diaphanous-related formin 2	DIAPH2	1730	ENSG00000147202	mutation identified in 1 POF2A family	?Premature ovarian failure 2A, 300511 (3), X-linked dominant	Diaph2 (MGI:1858500)
chrX	96883908	96885467	Xq21.33	Xq21.33	300767	RPA4	Replication protein A4	RPA4	29935	ENSG00000204086			
chrX	97528364	97564535	Xq21-q22	Xq21.33	300347	EPAG	Early lymphoid activation gene	DIAPH2-AS1	10824	ENSG00000236256			
chrX	99100001	156040895	Xq22-q28		301201	AI1E2, AIH3	Amelogenesis imperfecta, hypomaturation or hypoplastic type, X-linked 2		201			?Amelogenesis imperfecta, type IE, X-linked 2, 301201 (2), X-linked	
chrX	100291644	100410273	Xq22	Xq22.1	300460	PCDH19, KIAA1313, EFMR, DEE9	Protocadherin 19	PCDH19	57526	ENSG00000165194		Developmental and epileptic encephalopathy 9, 300088 (3), X-linked	Pcdh19 (MGI:2685563)
chrX	100584936	100599885	Xq22	Xq22.1	300459	TNMD, TEM, CHM1L	Tenomodulin	TNMD	64102	ENSG00000000005			Tnmd (MGI:1929885)
chrX	100627108	100637104	Xq22	Xq22.1	300191	TSPAN6, TM4SF6	Tetraspanin 6	TSPAN6	7105	ENSG00000000003			Tspan6 (MGI:1926264)
chrX	100644199	100675788	Xq21.33-q23	Xq22.1	300642	SRPX2, SRPUL, RESDX	SUSHI repeat-containing protein, X-linked, 2	SRPX2	27286	ENSG00000102359	mutation identified in 1 RESDX family	?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, 300643 (3)	Srpx2 (MGI:1916042)
chrX	100674491	100732121	Xq21.33	Xq22.1	300723	SYTL4	Synaptotagmin-like 4	SYTL4	94121	ENSG00000102362			Sytl4 (MGI:1351606)
chrX	100820391	100841520	Xq22.1	Xq22.1	300907	CSTF2, CSTF64, XLID113	Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD	CSTF2	1478	ENSG00000101811	mutation identified in 1 XLID113 family	?Intellectual developmental disorder, X-linked 113, 301116 (3), X-linked recessive	Cstf2 (MGI:1343054)
chrX	100843324	100874359	Xq22	Xq22.1	300225	NOX1, MOX1, NOH1	NADPH oxidase 1	NOX1	27035	ENSG00000007952			Nox1 (MGI:2450016)
chrX	100886916	100959343	Xq22.1	Xq22.1	300684	XKRX, XPLAC, XKR2, XRG2	X Kell blood group precursor-related, X-linked	XKRX	402415	ENSG00000182489			Xkrx (MGI:3584011)
chrX	100973366	101052111	Xq22.1	Xq22.1	301128	TRMT2B	tRNA methyltransferase 2 homolog B	TRMT2B	79979	ENSG00000188917			Trmt2b (MGI:2442530)
chrX	101098204	101181859	Xq22	Xq22.1	300065	FSHPRH1, LRPR1	FSH primary response, rat, homolog of, 1	CENPI	2491	ENSG00000102384			Cenpi (MGI:2147897)
chrX	101219786	101264502	Xq22	Xq22.1	300052	DRP2	Dystrophin-related protein 2	DRP2	1821	ENSG00000102385			Drp2 (MGI:107432)
chrX	101268257	101293083	Xq22.1	Xq22.1	300314	TAF7L, TAF2Q	TATA-box binding protein-associated factor 7-like	TAF7L	54457	ENSG00000102387			Taf7l,Taf7l2 (MGI:1921719,MGI:6274337)
chrX	101345661	101348742	Xq22	Xq22.1	300356	TIMM8A, DFN1, DDP, MTS, DDP1	Translocase of inner mitochondrial membrane 8A	TIMM8A	1678	ENSG00000126953		Mohr-Tranebjaerg syndrome, 304700 (3), X-linked recessive	Timm8a1 (MGI:1353433)
chrX	101349450	101390796	Xq21.3-q22	Xq22.1	300300	BTK, AGMX1, IMD1, XLA, AT, IGHD3	Bruton agammaglobulinemia tyrosine kinase	BTK	695	ENSG00000010671		Agammaglobulinemia, X-linked 1, 300755 (3), X-linked recessive; Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3), X-linked recessive	Btk (MGI:88216)
chrX	101391011	101396155	Xq22.1	Xq22.1	300902	RPL36A, RPL44	Ribosomal protein L36A	RPL36A	6173	ENSG00000241343			Rpl36a,Rpl36al (MGI:1201789,MGI:1913733)
chrX	101397803	101407925	Xq22	Xq22.1	300644	GLA	Galactosidase, alpha	GLA	2717	ENSG00000102393		Fabry disease, cardiac variant, 301500 (3), X-linked; Fabry disease, 301500 (3), X-linked	Gla (MGI:1347344)
chrX	101408222	101414133	Xq22	Xq22.1	300610	HNRNPH2, NRPH2, MRXSB	Heterogeneous nuclear ribonucleoprotein H2	HNRNPH2	3188	ENSG00000126945		Intellectual developmental disorder, X-linked syndromic, Bain type, 300986 (3), X-linked dominant	Hnrnph2 (MGI:1201779)
chrX	101418278	101535988	Xq22.1	Xq22.1	301046	ARMCX4	Armadillo repeat-containing protein, X-linked 4	ARMCX4	100131755	ENSG00000196440			Armcx4 (MGI:2147887)
chrX	101550547	101554700	Xq21.33-q22.2	Xq22.1	300362	ARMCX1, ALEX1	Armadillo repeat-containing protein, X-linked 1	ARMCX1	51309	ENSG00000126947			Armcx1 (MGI:1925498)
chrX	101615125	101618000	Xq22.1	Xq22.1	301048	ARMCX	Armadillo repeat-containing protein, X-linked 6	ARMCX6	54470	ENSG00000198960			Armcx6 (MGI:2147993)
chrX	101623151	101627843	Xq21.33-q22.2	Xq22.1	300364	ARMCX3, ALEX3	Armadillo repeat-containing protein, X-linked 3	ARMCX3	51566	ENSG00000102401			Armcx3 (MGI:1918953)
chrX	101655281	101659850	Xq21.33-q22.2	Xq22.1	300363	ARMCX2, ALEX2, KIAA0512	Armadillo repeat-containing protein, X-linked 2	ARMCX2	9823	ENSG00000184867			Armcx2 (MGI:1914666)
chrX	101832112	101857577	Xq22.1	Xq22.1	300319	NXF5	Nuclear RNA export factor 5	NXF5	55998	ENSG00000290798			Nxf2 (MGI:1933192)
chrX	101882290	101932027	Xq22.1	Xq22.1	301007	ZMAT1, KIAA1789	Zinc finger, matrin-type 1	ZMAT1	84460	ENSG00000166432			Zmat1 (MGI:2442284)
chrX	102153712	102155977	Xq22.1	Xq22.1	300693	BEX5, NGFRAP1L1	BEX family member 5	BEX5	340542	ENSG00000184515			
chrX	102247167	102326722	Xq22.1	Xq22.1	300315	NXF2	Nuclear RNA export factor 2	NXF2	56001	ENSG00000269405			Nxf2,Nxf7 (MGI:1933192,MGI:2159343)
chrX	102513682	102516739	Xq22.1	Xq22.1	300939	TMSB15A, TMSB15, TMSNB	Thymosin, beta-15A	TMSB15A	11013	ENSG00000158164			Tmsb15a,Tmsb15b1,Tmsb15b2 (MGI:1925728,MGI:3843059,MGI:3843061)
chrX	102549965	102571693	Xq22.1-q22.3	Xq22.1	300318	NXF4	Nuclear RNA export factor 4	NXF4	55999	ENSG00000290811			
chrX	102599206	102604159	Xq22.1	Xq22.1	301047	ARMCX5	Armadilla repeat-containing protein, X-linked 5	ARMCX5	64860	ENSG00000125962			Armcx5 (MGI:2148026)
chrX	102651483	102659083	Xq22	Xq22.1	300417	GPRASP1, GASP, KIAA0443	G protein-coupled receptor-associated sorting protein 1	GPRASP1	9737	ENSG00000198932	conflicting assignment to chr.9		Gprasp1 (MGI:1917418)
chrX	102712448	102717733	Xq22.1	Xq22.1	300969	GPRASP2, GASP2, DFNX7	G protein-coupled receptor-associated sorting protein 2	GPRASP2	114928	ENSG00000158301	mutation identified in 1 DFNX7 family	?Deafness, X-linked 7, 301018 (3), X-linked recessive	Gprasp2 (MGI:2442071)
chrX	102720743	102753540	Xq22.1	Xq22.1	300921	BHLHB9, P60TRP, KIAA1701	Basic helix-loop-helix domain-containing protein, class B, 9	GPRASP3	80823	ENSG00000198908			Bhlhb9 (MGI:1917487)
chrX	102937272	102938300	Xq22.2	Xq22.1	300405	RAB40AL, RLGP	Ras-associated protein, RAB40A-like	RAB40AL	282808	ENSG00000102128			Rab40b (MGI:2183451)
chrX	103062651	103064171	Xq22.1-q22.2	Xq22.1	300690	BEX1	Brain-expressed X-linked gene 1	BEX1	55859	ENSG00000133169			Bex1,Bex2 (MGI:1328321,MGI:1338017)
chrX	103075810	103093143	Xq21.3-q22.3	Xq22.1	300316	NXF3	Nuclear RNA export factor 3	NXF3	56000	ENSG00000147206			Nxf3 (MGI:2685230)
chrX	103215092	103217246	Xq22.2	Xq22.1	300692	BEX4	BEX family member 4	BEX4	56271	ENSG00000102409			Bex4,Bex6 (MGI:3588247,MGI:3606746)
chrX	103300001	138900000	Xq22.2-q26		300324	XLID53, MRX53	Intellectual developmental disorder, X-linked 53		4416			Intellectual developmental disorder, X-linked 53, 300324 (2), X-linked recessive	
chrX	103309346	103310990	Xq22	Xq22.2	300691	BEX2	Brain-expressed X-linked gene 2	BEX2	84707	ENSG00000133134			Bex1 (MGI:1328321)
chrX	103330239	103332326	Xq22.1-q22.3	Xq22.2	300771	TCEAL7	Transcription elongation factor A-like 7	TCEAL7	56849	ENSG00000182916			Tceal7 (MGI:1915746)
chrX	103376323	103378164	Xq22.1-q23	Xq22.2	300361	NGFRAP1, BEX3, NADE, DXS6984E	Nerve growth factor receptor (TNFRSF16) associated protein 1	BEX3	27018	ENSG00000166681			Bex3 (MGI:1338016)
chrX	103493266	103519489	Xq22.2	Xq22.2	301065	RAB40A	RAB40A, member Ras oncogene family	RAB40A	142684	ENSG00000172476			Rab40b (MGI:2183451)
chrX	103628716	103630953	Xq22.1	Xq22.2	300237	TCEAL1, P21, SIIR, HIJRS	Transcription elongation factor A-like 1	TCEAL1	9338	ENSG00000172465		Hijazi-Reis syndrome, 301094 (3), X-linked dominant	Tceal1 (MGI:2385317)
chrX	103675498	103688047	Xq22	Xq22.2	300409	MORFL2, MRGX, KIAA0026	Mortality factor 4-like 2	MORF4L2	9643	ENSG00000123562			Morf4l2 (MGI:1927167)
chrX	103710909	103714032	Xq22.2	Xq22.2	301102	TMEM31	Transmembrane protein 31	TMEM31	203562	ENSG00000179363			
chrX	103776324	103832257	Xq22.1-q22.3	Xq22.2	300285	RAB9B, RAB9L	RAS-associated protein RAB9B	RAB9B	51209	ENSG00000123570			Rab9b (MGI:2442454)
chrX	103776506	103792619	Xq22	Xq22.2	300401	PLP1, PMD, HLD1, SPG2	Proteolipid protein 1	PLP1	5354	ENSG00000123560		Pelizaeus-Merzbacher disease, 312080 (3), X-linked recessive; Spastic paraplegia 2, X-linked, 312920 (3), X-linked recessive	Plp1 (MGI:97623)
chrX	103919155	103974426	Xq22.2	Xq22.2	301011	TMSB15B	Thymosin, beta-15B	TMSB15B	286527	ENSG00000158427	opposite strand relative to TMSB15A		Tmsb15b1,Tmsb15b2 (MGI:3843059,MGI:3843061)
chrX	104011147	104013708	Xq22.2	Xq22.2	300507	H2BW1, H2BFWT	H2B.W histone 1	H2BW1	158983	ENSG00000123569			H2bw2 (MGI:1916639)
chrX	104099214	104157009	Xq22.2	Xq22.2	300941	SLC25A53	Solute carrier family 25, member 53	SLC25A53	401612	ENSG00000269743			Slc25a53 (MGI:1914312)
chrX	104112523	104115842	Xq22.2	Xq22.2	301122	ZCCHC18, PNMA7B	Zinc finger CCHC domain-containing protein 18	ZCCHC18	644353	ENSG00000166707			Zcchc12,Zcchc18 (MGI:1914245,MGI:1919943)
chrX	104250038	104254933	Xq22.1-q22.3	Xq22.2	300154	ESX1L, ESXR1	ESX1-like protein	ESX1	80712	ENSG00000123576			Esx1 (MGI:1096388)
chrX	104500001	109400000	Xq22.3		300194	AMMEC, DELXq22.3, CXDELq22.3	Alport syndrome, impaired intellectual development, midface hypoplasia, and elliptocytosis complex				contiguous gene deletion syndrome	AMME complex, 300194 (4)	
chrX	104500001	109400000	Xq22.3		300581	FGS5	FG syndrome 5		780900			FG syndrome 5, 300581 (2), X-linked	
chrX	104566199	105767829	Xq22	Xq22.3	300277	IL1RAPL2	Interleukin 1 receptor accessory protein-like 2	IL1RAPL2	26280	ENSG00000189108			Il1rapl2 (MGI:1913106)
chrX	105218929	105220694	Xq22.3	Xq22.3	300312	TEX13A	Testis-expressed gene 13A	TEX13A	56157	ENSG00000268629			Tex13a (MGI:1915194)
chrX	105821786	105958610	Xq22.3	Xq22.3	300791	NRK, NESK	NIK-related kinase	NRK	203447	ENSG00000123572			Nrk (MGI:1351326)
chrX	106032435	106038727	Xq22.2	Xq22.3	314200	TBG, TBGQTL	Thyroxine-binding globulin	SERPINA7	6906	ENSG00000123561		[Thyroxine-binding globulin QTL], 300932 (3), X-linked	Serpina7 (MGI:3041197)
chrX	106693838	106797016	Xq22.3	Xq22.3	300439	RNF128, GRAIL	RING finger protein 128	RNF128	79589	ENSG00000133135			Rnf128 (MGI:1914139)
chrX	106802673	106876150	Xq22.3	Xq22.3	301027	TBC1D8B, NPHS20	TBC1 domain family, member 8B	TBC1D8B	54885	ENSG00000133138		Nephrotic syndrome, type 20, 301028 (3), X-linked	Tbc1d8b (MGI:1918101)
chrX	106900063	106903341	Xq22.3	Xq22.3	300575	RIPPLY1	Ripply transcriptional repressor 1	RIPPLY1	92129	ENSG00000147223			Ripply1 (MGI:3614797)
chrX	106900164	106930861	Xq22.3	Xq22.3	300520	CLDN2, OAZON	Claudin 2	CLDN2	9075	ENSG00000165376	mutation identified in 1 OAZON family	?Azoospermia, obstructive, with nephrolithiasis, 301060 (3), X-linked recessive	Cldn2 (MGI:1276110)
chrX	106940738	107000212	Xq22.3	Xq22.3	300970	MORC4, ZCW4, ZCWCC2	MORC family CW-type zinc finger protein 4	MORC4	79710	ENSG00000133131			Morc4 (MGI:1922996)
chrX	107206611	107244247	Xq22.3	Xq22.3	300933	DNAAF6, PIH1D3, CILD36	Dynein, axonemal, assembly factor 6	DNAAF6	139212	ENSG00000080572		Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive	Dnaaf6,Dnaaf6rt (MGI:1921958,MGI:3607720)
chrX	107272464	107276556	Xq22-q23	Xq22.3	310310	MYCL2	MYCL-related processed gene	MYCLP1	4611		pseudogene on Xq27.3		
chrX	107449652	107605251	Xq22.3	Xq22.3	301005	FRMPD3, KIAA1817	FERM- and PDZ domain-containing protein 3	FRMPD3	84443	ENSG00000147234			Frmpd3 (MGI:3646547)
chrX	107628510	107651026	Xq22-q24	Xq22.3	311850	PRPS1, CMTX5, DFNX1, DFN2	Phosphoribosyl pyrophosphate synthetase-1	PRPS1	5631	ENSG00000147224		Arts syndrome, 301835 (3), X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3), X-linked recessive; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3), X-linked recessive; Deafness, X-linked 1, 304500 (3), X-linked; Gout, PRPS-related, 300661 (3), X-linked recessive	Prps1 (MGI:97775)
chrX	107713221	107775988	Xq22.2	Xq22.3	300506	TSC22D3, DSIPI, GILZ	TSC22 domain family, member 3	TSC22D3	1831	ENSG00000157514			Tsc22d3 (MGI:1196284)
chrX	107825735	107931637	Xq22	Xq22.3	300204	MID2, XLID101	Midline 2	MID2	11043	ENSG00000080561	mutation identified in 1 XLID101 family	?Intellectual developmental disorder, X-linked 101, 300928 (3), X-linked recessive	Mid2 (MGI:1344333)
chrX	107980864	107982370	Xq22.3	Xq22.3	300313	TEX13B	Testis-expressed gene 13B	TEX13B	56156	ENSG00000170925			Tex13a,Tex13b (MGI:1890544,MGI:1915194)
chrX	108018879	108079184	Xq22.1-q22.3	Xq22.3	300620	VSIG1, GPA34	V-set and immunoglobulin domains-containing protein 1	VSIG1	340547	ENSG00000101842			Vsig1 (MGI:1926039)
chrX	108084207	108091542	Xq22.3	Xq22.3	300880	PSMD10, p28	Proteasome 26S subunit, non-ATPase, 10	PSMD10	5716	ENSG00000101843			Psmd10 (MGI:1858898)
chrX	108088829	108154671	Xq22	Xq22.3	300663	ATG4A, APG4A, AUTL2	Autophagy related 4A cysteine peptidase	ATG4A	115201	ENSG00000101844			Atg4a,Atg4a-ps (MGI:2147903,MGI:3615624)
chrX	108155614	108439458	Xq22.3	Xq22.3	303631	COL4A6, DELXq22.3, CXDELq22.3, DFNX6	Collagen IV, alpha-6 polypeptide	COL4A6	1288	ENSG00000197565	mutation identified in 1 DFNX6 family	?Deafness, X-linked 6, 300914 (3), X-linked recessive	Col4a6 (MGI:2152695)
chrX	108439838	108697545	Xq22.3	Xq22.3	303630	COL4A5, ATS1	Collagen IV, alpha-5 polypeptide	COL4A5	1287	ENSG00000188153	diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6	Alport syndrome 1, X-linked, 301050 (3), X-linked dominant	Col4a5 (MGI:88456)
chrX	108719946	108736563	Xq22.3	Xq22.3	300904	IRS4, CHNG9	Insulin receptor substrate 4	IRS4	8471	ENSG00000133124		Hypothyroidism, congenital, nongoitrous, 9, 301035 (3), X-linked recessive	Irs4 (MGI:1338009)
chrX	109372906	109482086	Xq22	Xq22.3-q23	300041	GUCY2F, GUC2F	Guanylate cyclase 2F	GUCY2F	2986	ENSG00000101890			Gucy2f (MGI:105119)
chrX	109400001	138900000	Xq23-q26		300464	CHDS3	Coronary heart disease, susceptibility to, 3		387573			{Coronary heart disease, susceptibility to, 3}, 300464 (2)	
chrX	109400001	117400000	Xq23		300711	IHPS4	Pyloric stenosis, infantile hypertrophic, 4		100188772		max lod at rs3027802	Pyloric stenosis, infantile hypertrophic, 4, 300711 (2)	
chrX	109400001	143000000	Xq23-q27.2		300613	MYP13	Myopia 13		677764		between DXS1210 and DXS1227	Myopia 13, 300613 (2)	
chrX	109400001	121800000	Xq23-q24		300046	XLID23, MRX23	Intellectual developmental disorder, X-linked 23		4387		other MRX in same region MRX27, MRX30, MRX35, MRX47, MRX80	Intellectual developmental disorder, X-linked 23, 300046 (2), X-linked	
chrX	109535824	109544698	Xq23	Xq23	300320	NXT2	NTF2-related export protein 2	NXT2	55916	ENSG00000101888			Nxt2 (MGI:2147914)
chrX	109623700	109625172	Xq22.3	Xq23	300328	KCNE1L	Potassium voltage-gated channel, Isk-related family, member 1-like	KCNE5	23630	ENSG00000176076			Kcne5 (MGI:1913490)
chrX	109641335	109733257	Xq22.3	Xq23	300157	ACSL4, FACL4, ACS4, XLID63	Acyl-CoA synthetase long-chain family member 4	ACSL4	2182	ENSG00000068366		Intellectual developmental disorder, X-linked 63, 300387 (3), X-linked dominant	Acsl4 (MGI:1354713)
chrX	110194186	110440233	Xq22.3	Xq23	300195	AMMECR1, MFHIEN	AMMECR nuclear protein 1	AMMECR1	9949	ENSG00000101935		Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3), X-linked recessive	Ammecr1 (MGI:1860206)
chrX	110358848	110456334	Xq23	Xq23	300965	RTL9, RGAG1, MAR9, KIAA1318	Retrotransposon GAG-like 9	RTL9	57529	ENSG00000243978			Rtl9 (MGI:2685231)
chrX	110673856	110795817	Xq22.1-q23	Xq23	300350	CHRDL1, VOPT, MGC1	Chordin-like 1	CHRDL1	91851	ENSG00000101938		Megalocornea 1, X-linked, 309300 (3), X-linked recessive	Chrdl1 (MGI:1933172)
chrX	110944397	111227361	Xq23	Xq23	300142	PAK3, MRX30, MRX47, XLID30	p21-activated kinase-3	PAK3	5063	ENSG00000077264		Intellectual developmental disorder, X-linked 30, 300558 (3), X-linked recessive	Pak3 (MGI:1339656)
chrX	111245099	111270483	Xq23	Xq23	300146	CAPN6	Calpain 6	CAPN6	827	ENSG00000077274			Capn6 (MGI:1100850)
chrX	111293779	111412192	Xq22.3-q23	Xq23	300121	DCX, DBCN, LISX	Doublecortin	DCX	1641	ENSG00000077279		Subcortical laminal heterotopia, X-linked, 300067 (3), X-linked; Lissencephaly, X-linked, 300067 (3), X-linked	Dcx (MGI:1277171)
chrX	111681170	111760649	Xq23	Xq23	300776	ALG13, GLT28D1, CDG1S, DEE36	ALG13 UDP-N-acetylglucosaminyltransferase subunit	ALG13	79868	ENSG00000101901		Developmental and epileptic encephalopathy 36, 300884 (3), X-linked	Alg13 (MGI:1914824)
chrX	111768011	112082776	Xq23	Xq23	300334	TRPC5, TRP5	Transient receptor potential channel 5	TRPC5	7224	ENSG00000072315			Trpc5 (MGI:109524)
chrX	112083013	112457514	Xq23	Xq23	301131	RTL4, SIRH1, ZCCHC16	Retrotransposon GAG-like 4	RTL4	340595	ENSG00000187823			Rtl4 (MGI:3588192)
chrX	112630648	112679938	Xq23	Xq23	300566	LHFPL1	LHFP tetraspan subfamily, member 1	LHFPL1	340596	ENSG00000182508			Lhfpl1 (MGI:1891214)
chrX	112774877	112840831	Chr.X	Xq23	300410	AMOT, KIAA1071	Angiomotin	AMOT	154796	ENSG00000126016			Amot (MGI:108440)
chrX	113616300	113618153	Xq23	Xq23	300901	XACT	Active X chromosome-coating transcript, noncoding	XACT	105463123				
chrX	114584086	114910061	Xq24	Xq23	312861	HTR2C	5-hydroxytryptamine (serotonin) receptor-2C	HTR2C	3358	ENSG00000147246	formerly HTR1C		Htr2c (MGI:96281)
chrX	114823454	114823564	Xq23	Xq23	300686	MIR448, MIRN448	Micro RNA 448	MIR448	554212	ENSG00000199001			Mir448 (MGI:3619406)
chrX	115003982	115017616	Xq24	Xq23	300130	IL13RA2	Interleukin-13 receptor, alpha-2	IL13RA2	3598	ENSG00000123496			Il13ra2 (MGI:1277954)
chrX	115189410	115192868	Xq23	Xq23	301136	RBMXL3	RBMX-like protein 3	RBMXL3	139804	ENSG00000175718			
chrX	115289715	115307563	Xq23	Xq23	300616	LUZP4	Leucine zipper protein 4	LUZP4	51213	ENSG00000102021			
chrX	115561174	115650861	Xq23	Xq23	300131	PLS3, BMND18, DIH5	Plastin 3	PLS3	5358	ENSG00000102024		Bone mineral density QTL18, osteoporosis, 300910 (3), X-linked dominant; Diaphragmatic hernia 5, X-linked, 306950 (3), X-linked	Pls3 (MGI:104807)
chrX	115840396	115969111	Xq23	Xq23	301004	DANT2	DXZ4-associated noncoding transcript 2, distal	DANT2	642776	ENSG00000235244			
chrX	115840964	115905527	Xq23	Xq23	301001	DANT1	DXZ4-associated noncoding transcript 1, proximal	DANT1	106029310				
chrX	116170744	116174974	Xq23	Xq23	300034	AGTR2	Angiotensin receptor 2	AGTR2	186	ENSG00000180772			Agtr2 (MGI:87966)
chrX	116436606	116461458	Xq23-q24	Xq23	300444	SLC6A14	Solute carrier family 6 (neurotransmitter transporter), member 14	SLC6A14	11254	ENSG00000268104			Slc6a14 (MGI:1890216)
chrX	116461686	116462976	Xq22	Xq23	300625	CT83, KKLC1, CXorf61	Cancer/testis antigen 83	CT83	203413	ENSG00000204019			
chrX	117400001	138900000	Xq24-q26		300700	ADFN, ALDS	Albinism-deafness syndrome		122		~8cM proximal to F9	Albinism-deafness syndrome, 300700 (2), X-linked	
chrX	117400001	121800000	Xq24		300306	BMIQ11	Body Mass Index quantitative trait locus 11					{Obesity, susceptibility to, BMIQ11}, 300306 (2)	
chrX	117400001	156040895	Xq24-qter		304730	CND	Corneal dermoids		8231			Dermoids of cornea, 304730 (2), X-linked	
chrX	117400001	141200000	Xq24-q27.1		300245	PTOS2, PTOSX	Ptosis, hereditary congenital 2		54115			Ptosis, hereditary congenital 2, 300245 (2), X-linked dominant	
chrX	117400001	129500000	Xq24-q25		300378	RRDX	Radial ray deficiency		266719			Radial ray deficiency, 300378 (2)	
chrX	117400001	129500000	Xq24-q25		300750	SPG34	Spastic paraplegia 34, X-linked		724110		max lod at DXS8057	Spastic paraplegia 34, X-linked, 300750 (2), X-linked recessive	
chrX	117400001	129500000	Xq24-q25		300591	STQTL6	Stature quantitative trait locus 6		100037264		max lod at DXS8067	{Stature QTL 6}, 300591 (2)	
chrX	117400001	129500000	Xq24-q25		300518	XLID82, MRX82	Intellectual developmental disorder, X-linked 82		378484		between DXS6805 and DXS7346	Intellectual developmental disorder, X-linked 82, 300518 (2), X-linked recessive	
chrX	117400001	121800000	Xq24		300852	XLID88, MRX88	Intellectual developmental disorder, X-linked 88		105463129			Intellectual developmental disorder, X-linked 88, 300852 (2), X-linked	
chrX	117897813	118117340	Xq24	Xq24	300655	KLHL13, KIAA1309	Kelch-like 13	KLHL13	90293	ENSG00000003096			Klhl13 (MGI:1914705)
chrX	118346073	118449961	Xq24	Xq24	301070	WDR44, RAB11BP, RPH11	WD repeat domain-containing protein 44	WDR44	54521	ENSG00000131725			Wdr44 (MGI:1919654)
chrX	118495815	118686147	Xq24	Xq24	300681	DOCK11, ACG, ZIZ2, ADMIDX	Dedicator of cytokinesis 11	DOCK11	139818	ENSG00000147251		Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, 301109 (3), X-linked recessive	Dock11 (MGI:1923224)
chrX	118727606	118805228	Chr.X	Xq24	300119	IL13RA1	Interleukin-13 receptor, alpha-1	IL13RA1	3597	ENSG00000131724			Il13ra1 (MGI:105052)
chrX	118823824	118826968	Xq24	Xq24	300701	ZCCHC12, SIZN1	Zinc finger CCHC domain-containing protein 12	ZCCHC12	170261	ENSG00000174460			Zcchc12 (MGI:1919943)
chrX	119078635	119151130	Xq24	Xq24	300995	KIAA1210	Kiaa1210 gene	KIAA1210	57481	ENSG00000250423			Gm14569 (MGI:3705243)
chrX	119236285	119244466	Xq22-q24	Xq24	300435	PGRMC1	Progesterone receptor membrane component 1	PGRMC1	10857	ENSG00000101856			Pgrmc1 (MGI:1858305)
chrX	119399336	119454478	Xq24	Xq24	300641	SLC25A43	Solute carrier family 25, member 43	SLC25A43	203427	ENSG00000077713			Slc25a43 (MGI:2684854)
chrX	119468444	119471396	Xq24-q26	Xq24	300150	SLC25A5, ANT2, T3	Solute carrier family 25 (mitochondrial carrier), member 5 (adenine nucleotide translocator-2, fibroblast)	SLC25A5	292	ENSG00000005022			Slc25a5 (MGI:1353496)
chrX	119538149	119565409	Xq24	Xq24	301012	STEEP1, CXorf56, XLID107	STING1 ER exit protein 1	STEEP1	63932	ENSG00000018610	mutation identified in 1 XLID107 family	?Intellectual developmental disorder, X-linked 107, 301013 (3), X-linked	Steep1 (MGI:1924894)
chrX	119574563	119584423	Xq24	Xq24	312180	UBE2A, RAD6A, MRXSN, MRXS30	Ubiquitin-conjugating enzyme E2 A	UBE2A	7319	ENSG00000077721		Intellectual developmental disorder, X-linked syndromic, Nascimento type, 300860 (3), X-linked recessive	Ube2a (MGI:102959)
chrX	119588337	119606424	Xq24	Xq24	300440	NKRF, NRF	NFKB-repressing factor	NKRF	55922	ENSG00000186416			Nkrf (MGI:1924536)
chrX	119615724	119693168	Xq24	Xq24	300683	SEPT6, SEP2, KIAA0128	Septin 6	SEPTIN6	23157	ENSG00000125354			Septin6 (MGI:1888939)
chrX	119646738	119646848	Xq24	Xq24	301062	MIR766	Micro RNA 766	MIR766	768218	ENSG00000211578	located in intron of SEPT6		
chrX	119786504	119791630	Xq24	Xq24	300899	RPL39	Ribosomal protein L39	RPL39	6170	ENSG00000198918			Rpl39 (MGI:1914498)
chrX	119805311	119852963	Xq25-q26	Xq24	300298	UPF3B, RENT3B, MRXS14	UPF3B regulator of nonsense-mediated mRNA decay	UPF3B	65109	ENSG00000125351		Intellectual developmental disorder, X-linked syndromic 14, 300676 (3), X-linked recessive	Upf3b (MGI:1915384)
chrX	119870475	119871733	Xq24	Xq24	300951	RNF113A, ZNF183, TTD5	RING finger protein 113A	RNF113A	7737	ENSG00000125352		Trichothiodystrophy 5, nonphotosensitive, 300953 (3), X-linked	Rnf113a1,Rnf113a2 (MGI:1913631,MGI:1917192)
chrX	119871832	119876662	Xq24	Xq24	300078	NDUFA1, MWFE, MC1DN12	NADH-ubiquinone oxidoreductase subunit A1	NDUFA1	4694	ENSG00000125356		Mitochondrial complex I deficiency, nuclear type 12, 301020 (3), X-linked recessive	Ndufa1 (MGI:1929511)
chrX	119895893	119920716	Xq24	Xq24	300462	AKAP14, AKAP28	A-kinase anchor protein 14	AKAP14	158798	ENSG00000186471			Akap14 (MGI:3618288)
chrX	119920672	119943751	Xq24	Xq24	300766	NKAP, MRXSHD	NFKB-activating protein	NKAP	79576	ENSG00000101882		Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, 301039 (3), X-linked recessive	Nkap (MGI:1914300)
chrX	120010717	120015551	Xq24	Xq24	300973	RHOXF1P1	RHOX homeobox family member 1, pseudogene 1	RHOXF1P1	101928941	ENSG00000291200			
chrX	120109051	120120438	Xq24	Xq24	300446	RHOXF1, OTEX, PEPP1	RHOX homeobox family, member 1	RHOXF1	158800	ENSG00000101883			Rhox13 (MGI:1920864)
chrX	120158613	120165630	Xq24	Xq24	300447	RHOXF2, PEPP2	RHOX homeobox family, member 2	RHOXF2	84528	ENSG00000131721			Rhox6 (MGI:1202888)
chrX	120250812	120258398	Xq23	Xq24	300329	ZBTB33, KAISO	Zinc finger- and BTB domain-containing protein 33	ZBTB33	10009	ENSG00000177485			Zbtb33 (MGI:1927290)
chrX	120362089	120383237	Xq24	Xq24	301073	ATP1B4	ATPase, NA+/K+ transporting family, member beta-4	ATP1B4	23439	ENSG00000101892			Atp1b4 (MGI:1915071)
chrX	120426148	120469349	Xq24	Xq24	309060	LAMP2, LAMPB, LGP110, DND	Lysosome-associated membrane protein-2	LAMP2	3920	ENSG00000005893		Danon disease, 300257 (3), X-linked dominant	Lamp2 (MGI:96748)
chrX	120523858	120575532	Xq23	Xq24	300304	CUL4B, MRXSC, MRXHF2, SFM2, MRXS15	Cullin-4B	CUL4B	8450	ENSG00000158290		Intellectual developmental disorder, X-linked syndromic, Cabezas type, 300354 (3), X-linked recessive	Cul4b (MGI:1919834)
chrX	120604101	120621159	Xq22-q24	Xq24	300587	MCTS1, MCT1, IMD118	Malignant T-cell amplified sequence 1	MCTS1	28985	ENSG00000232119		Immunodeficiency 118, mycobacteriosis, 301115 (3), X-linked recessive	Mcts1 (MGI:1916245)
chrX	120625674	120630054	Xq23	Xq24	300611	C1GALT1C1, COSMC, C1GALT2, TNPS, AHUS8	C1GALT1-specific chaperone 1	C1GALT1C1	29071	ENSG00000171155		Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, 301110 (3), X-linked recessive; Tn polyagglutination syndrome, somatic, 300622 (3)	C1galt1c1 (MGI:1913493)
chrX	120872607	120875866	Xq24	Xq24	300790	CT47B1, CT47A13	Cancer/testis antigen family 47, member B1	CT47B1	643311	ENSG00000236446			Ct47 (MGI:3644556)
chrX	120933840	120937158	Xq24	Xq24	300592	CT47A11, LOC255313	Cancer/testis antigen family 47, member A11	CT47A11	255313	ENSG00000226929			Ct47 (MGI:3644556)
chrX	120938701	120942023	Xq24	Xq24	300789	CT47A10	Cancer/testis antigen family 47, member A10	CT47A10	728036	ENSG00000224089			Ct47 (MGI:3644556)
chrX	120943561	120946883	Xq24	Xq24	300788	CT47A9	Cancer/testis antigen family 47, member A9	CT47A9	728042	ENSG00000226600			Ct47 (MGI:3644556)
chrX	120948422	120951744	Xq24	Xq24	300787	CT47A8	Cancer/testis antigen family 47, member A8	CT47A8	728049	ENSG00000230347			Ct47 (MGI:3644556)
chrX	120953282	120956600	Xq24	Xq24	300786	CT47A7	Cancer/testis antigen family 47, member A7	CT47A7	653282	ENSG00000228517			Ct47 (MGI:3644556)
chrX	120958165	120961487	Xq24	Xq24	300785	CT47A6	Cancer/testis antigen family 47, member A6	CT47A6	728062	ENSG00000226023			Ct47 (MGI:3644556)
chrX	120963026	120966348	Xq24	Xq24	300784	CT47A5	Cancer/testis antigen family 47, member A5	CT47A5	728072	ENSG00000237957			Ct47 (MGI:3644556)
chrX	120967886	120971208	Xq24	Xq24	300783	CT47A4	Cancer/testis antigen family 47, member A4	CT47A4	728075	ENSG00000230594			Ct47 (MGI:3644556)
chrX	120972746	120976068	Xq24	Xq24	300782	CT47A3	Cancer/testis antigen family 47, member A3	CT47A3	728082	ENSG00000236126			Ct47 (MGI:3644556)
chrX	120977606	120980928	Xq24	Xq24	300781	CT47A2	Cancer/testis antigen family 47, member A2	CT47A2	728090	ENSG00000242362			Ct47 (MGI:3644556)
chrX	120982476	120985760	Xq24	Xq24	300780	CT47A1	Cancer/testis antigen family 45, member A1	CT47A1	728096	ENSG00000236371			Ct47 (MGI:3644556)
chrX	121047610	121050094	Xq25	Xq24	300144	GLUD2	Glutamate dehydrogenase-2	GLUD2	2747	ENSG00000182890			Glud1 (MGI:95753)
chrX	121800001	129500000	Xq25		300979	DUPXq25	Xq25 duplication syndrome					Xq25 duplication syndrome, 300979 (4), X-linked	
chrX	121800001	141200000	Xq25-q27.1		300703	SCAX5	Spinocerebellar ataxia, X-linked 5		100188768		between DXS1047 and DXS1227	Spinocerebellar ataxia, X-linked 5, 300703 (2), X-linked recessive	
chrX	121800001	138900000	Xq25-q26		300179	SXI2	X inactivation, familial skewed, 2		117237			X inactivation, familial skewed, 2, 300179 (2)	
chrX	121800001	131300000	Xq25-q26.1		313850	THAS, TAS	Thoracoabdominal syndrome		7055			Thoracoabdominal syndrome, 313850 (2), X-linked	
chrX	121800001	129500000	Xq25		300779	XECD	Corneal dystrophy, endothelial, X-linked		100302510		between DXS8057 and DXS1047	Corneal dystrophy, endothelial, X-linked, 300779 (2), X-linked dominant	
chrX	121800001	138900000	Xq25-q26		300436	XLID46, MRX46	Intellectual developmental disorder, X-linked 56				between DXS8072 and DXS294	Intellectual developmental disorder, X-linked 46, 300436 (2), X-linked recessive	
chrX	123184278	123490915	Xq25-q26	Xq25	305915	GRIA3, GLUR3, MRXSW	Glutamate receptor, ionotropic, AMPA 3	GRIA3	2892	ENSG00000125675		Intellectual developmental disorder, X-linked syndromic, Wu type, 300699 (3), X-linked recessive	Gria3 (MGI:95810)
chrX	123600569	123733052	Xq25	Xq25	300395	THOC2, THO2, XLID12, AMC7	THO complex 2	THOC2	57187	ENSG00000125676		Arthrogryposis multiplex congenita 7, X-linked, 301127 (3), X-linked; Intellectual developmental disorder, X-linked syndromic, Kumar type, 300957 (3), X-linked	Thoc2,Thoc2l (MGI:2442413,MGI:3040669)
chrX	123859708	123913972	Xq25	Xq25	300079	XIAP, BIRC4, API3, XLP2	Inhibitor of apoptosis, X-linked	XIAP	331	ENSG00000101966		Lymphoproliferative syndrome, X-linked, 2, 300635 (3), X-linked recessive	Xiap (MGI:107572)
chrX	123960560	124102656	Xq25	Xq25	300826	STAG2, SA2, MKMS, HPE13	Stromal antigen 2	STAG2	10735	ENSG00000101972		Holoprosencephaly 13, X-linked, 301043 (3), X-linked recessive, X-linked dominant; Mullegama-Klein-Martinez syndrome, 301022 (3), X-linked	Stag2 (MGI:1098583)
chrX	124332660	124336863	Xq25	Xq25	301124	TEX13D	Testis-expressed gene 13D	TEX13D	100132015	ENSG00000282419			Tex13c3,Tex13d (MGI:3037654,MGI:3780650)
chrX	124346563	124373160	Xq25	Xq25	300490	SH2D1A, LYP, IMD5, XLP, XLPD1	SH2 domain protein 1A	SH2D1A	4068	ENSG00000183918	1cM from DXS42; no recombination with DXS37	Lymphoproliferative syndrome, X-linked, 1, 308240 (3), X-linked recessive	Sh2d1a (MGI:1328352)
chrX	124375903	125204312	Xq25	Xq25	300588	TENM1, ODZ1, TNM1	Teneurin transmembrane protein 1	TENM1	10178	ENSG00000009694			Tenm1 (MGI:1345185)
chrX	125319871	125325214	Xq25	Xq25	301123	TEX13C	Testis-expressed gene 13C	TEX13C	100129520	ENSG00000282815			Tex13c1,Tex13c3 (MGI:2685208,MGI:3037654)
chrX	128050962	128052403	Xq25	Xq25	300487	ACTRT1, ARPT1	Actin-related protein T1	ACTRT1	139741	ENSG00000123165			Actrt1 (MGI:1920610)
chrX	129446506	129523490	Xq26.1	Xq25-q26.1	300012	SMARCA1, SNF2L1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	SMARCA1	6594	ENSG00000102038			Smarca1 (MGI:1935127)
chrX	129500001	138900000	Xq26		301845	BZX, BDCS	Bazex-Dupre-Christol syndrome				caused by microduplication in intergenic region	Bazex-Dupre-Christol syndrome, 301845 (4), X-linked dominant	
chrX	129500001	148000000	Xq26-q27		300712	CFSS	Craniofacioskeletal syndrome		100188773			?Craniofacioskeletal syndrome, 300712 (2), X-linked recessive, X-linked dominant	
chrX	129500001	138900000	Xq26		302802	CMTX3	Charcot-Marie-Tooth neuropathy, X-linked recessive, 3				genomic rearrangement between 8q24.3 and Xq27.1	Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, 302802 (4), X-linked recessive	
chrX	129500001	156040895	Xq26-qter		300076	INDX	Immunoneurologic syndrome X-linked, of Woods, Black, and Norbury		8259			Woods-Black-Norbury syndrome, 300076 (2), X-linked dominant	
chrX	129500001	148000000	Xq26-q27		300155	RP24	Retinitis pigmentosa-24		6116			Retinitis pigmentosa 24, 300155 (2)	
chrX	129500001	138900000	Xq26		313350	SHFM2, SHFD2	Split hand/foot malformation, type (ectrodactyly) 2		6463			Split hand/foot malformation 2, 313350 (2), X-linked	
chrX	129500001	138900000	Xq26		300372	XLID42, MRX42	Intellectual developmental disorder, X-linked 42		4406		?pericentromeric region	Intellectual developmental disorder, X-linked 42, 300372 (2)	
chrX	129540259	129592556	Xq26.1	Xq26.1	300535	OCRL, LOCR, OCRL1, NPHL2, DENT2	OCRL inositol polyphosphate-5-phosphatase	OCRL	4952	ENSG00000122126		Dent disease 2, 300555 (3), X-linked recessive; Lowe syndrome, 309000 (3), X-linked recessive	Ocrl (MGI:109589)
chrX	129645259	129654956	Xq25-q26.3	Xq26.1	300297	APLN	Apelin	APLN	8862	ENSG00000171388			Apln (MGI:1353624)
chrX	129738979	129769536	Xq25	Xq26.1	300145	XPNPEP2, AEACEI	X-prolyl aminopeptidase 2 (aminopeptidase P)	XPNPEP2	7512	ENSG00000122121		{Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)	Xpnpep2 (MGI:2180001)
chrX	129779949	129795201	Xq26.1	Xq26.1	300441	SASH3, HACS2, CXorf9, SLY, IMD102	SAM and SH3 domain containing 3	SASH3	54440	ENSG00000122122		Immunodeficiency 102, 301082 (3), X-linked recessive	Sash3 (MGI:1921381)
chrX	129803288	129843886	Xq26.1	Xq26.1	300646	ZDHHC9, DHHC9, MRXSR	Zinc finger DHHC domain-containing protein 9	ZDHHC9	51114	ENSG00000188706		Intellectual developmental disorder, X-linked syndromic, Raymond type, 300799 (3), X-linked	Zdhhc9 (MGI:2444393)
chrX	129906164	129929752	Xq26.1	Xq26.1	300508	UTP14A	UTP14 small subunit processome component	UTP14A	10813	ENSG00000156697			Utp14a,Utp14b (MGI:1919804,MGI:2445092)
chrX	129980313	130058071	Xq25-q26.1	Xq26.1	300688	BCORL1, SHUVER	BCL6 corepressor-like 1	BCORL1	63035	ENSG00000085185		Shukla-Vernon syndrome, 301029 (3), X-linked recessive	Bcorl1 (MGI:2443910)
chrX	130063955	130111927	Xq26	Xq26.1	300775	ELF4, MEF, AIFBL2	E74-like ETS transcription factor 4	ELF4	2000	ENSG00000102034		Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, 301074 (3), X-linked recessive	Elf4 (MGI:1928377)
chrX	130129362	130165841	Xq26.1	Xq26.1	300169	AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5, SEMDHL	Apoptosis-inducing factor, mitochondrion-associated, 1	AIFM1	9131	ENSG00000156709		Combined oxidative phosphorylation deficiency 6, 300816 (3), X-linked recessive; Cowchock syndrome, 310490 (3), X-linked recessive; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 (3), X-linked recessive; Deafness, X-linked 5, 300614 (3), X-linked recessive	Aifm1 (MGI:1349419)
chrX	130110623	130184870	Chr.X	Xq26.1	300333	RAB33A	Ras-associated protein RAB33A	RAB33A	9363	ENSG00000134594			Rab33a (MGI:109493)
chrX	130339919	130373357	Xq24	Xq26.1	300242	SLC25A14, BMCP1	Solute carrier family 25 (mitochondrial carrier), member 14	SLC25A14	9016	ENSG00000102078			Slc25a14 (MGI:1330823)
chrX	130379449	130385674	Xq26.1	Xq26.1	300513	GPR119, GPCR2	G protein-coupled receptor 119	GPR119	139760	ENSG00000147262			Gpr119 (MGI:2668412)
chrX	130622325	130903209	Xq25-q26.2	Xq26.1	300282	ENOX2	ECTO-NOX disulfide-thiol exchanger 2	ENOX2	10495	ENSG00000165675			Enox2 (MGI:2384799)
chrX	131058346	131089885	Xq26.1	Xq26.1	300937	ARHGAP36	Rho GTPase-activating protein 36	ARHGAP36	158763	ENSG00000147256			Arhgap36 (MGI:1922654)
chrX	131273506	131289464	Xq25	Xq26.1	300137	IGSF1, IGDC1, CHTE	Immunoglobulin superfamily, member 1	IGSF1	3547	ENSG00000147255		Hypothyroidism, central, and testicular enlargement, 300888 (3), X-linked recessive	Igsf1 (MGI:2147913)
chrX	131691525	131830643	Xq26.1	Xq26.2	300999	FIRRE, LINC01200	Functional intergenic repeating RNA element	FIRRE	286467	ENSG00000213468			Firre (MGI:2147989)
chrX	132023302	132075943	Xq26	Xq26.2	300547	STK26, MASK, MST4	Serine/threonine kinase 26	STK26	51765	ENSG00000134602			Stk26 (MGI:1917665)
chrX	132076990	132128020	Xq26.2	Xq26.2	300628	FRMD7, NYS1, XIPAN	FERM domain-containing 7	FRMD7	90167	ENSG00000165694		Nystagmus, infantile periodic alternating, X-linked, 310700 (3), X-linked; Nystagmus 1, congenital, X-linked, 310700 (3), X-linked	Frmd7 (MGI:2686379)
chrX	132203025	132219447	Xq26.2	Xq26.2	301016	RAP2C	Ras-related protein 2C	RAP2C	57826	ENSG00000123728			Rap2c (MGI:1919315)
chrX	132369320	132490035	Xq26	Xq26.2	300413	MBNL3, MBXL	Muscleblind-like protein 3	MBNL3	55796	ENSG00000076770			Mbnl3 (MGI:2444912)
chrX	132626015	132961370	Xq26.2	Xq26.2	300545	HS6ST2, MRXSPM	Heparan sulfate 6-O-sulfotransferase 2	HS6ST2	90161	ENSG00000171004	mutation identified in 1 MRXSPM family	?Paganini-Miozzo syndrome, 301025 (3), X-linked recessive	Hs6st2 (MGI:1354959)
chrX	133023168	133097109	Xq26.2	Xq26.2	300309	USP26, SPGFX6	Ubiquitin-specific protease 26	USP26	83844	ENSG00000134588		Spermatogenic failure, X-linked, 6, 301101 (3), X-linked	Usp26 (MGI:1933247)
chrX	133216662	133218354	Xq26.2	Xq26.2	300772	TFDP3, HCA661, CT30, DP4	Transcription factor DP family, member 3	TFDP3	51270	ENSG00000183434			Tfdp1 (MGI:101934)
chrX	133300103	133415489	Xq26	Xq26.2	300168	GPC4, KPTS	Glypican 4	GPC4	2239	ENSG00000076716	centromeric to GPC3	Keipert syndrome, 301026 (3), X-linked recessive	Gpc4 (MGI:104902)
chrX	133535745	133985594	Xq26	Xq26.2	300037	GPC3, SDYS, SGBS1	Glypican 3	GPC3	2719	ENSG00000147257		Wilms tumor, somatic, 194070 (3); Simpson-Golabi-Behmel syndrome, type 1, 312870 (3), X-linked recessive	Gpc3 (MGI:104903)
chrX	134169538	134169612	Xq26.2	Xq26.2	301092	MIR92A2	Micro RNA 92A2	MIR92A2	407049	ENSG00000284538			Mir92-2 (MGI:3619438)
chrX	134169671	134169766	Xq26.2	Xq26.2	300722	MIR19B2, MIRN19B2	Micro RNA 19B2	MIR19B2	406981	ENSG00000284107			Mir19b-2 (MGI:2676868)
chrX	134169809	134169877	Xq26.2	Xq26.2	300950	MIR20B	Micro RNA 20B	MIR20B	574032	ENSG00000284043			Mir20b (MGI:3618748)
chrX	134170198	134170278	Xq26.2	Xq26.2	300792	MIR106A, MIRN106A	Micro RNA 106A	MIR106A	406899	ENSG00000284157			Mir106a (MGI:3619120)
chrX	134373312	134428790	Xq26.3	Xq26.2	300414	PHF6, BFLS	PHD finger protein 6	PHF6	84295	ENSG00000156531		Borjeson-Forssman-Lehmann syndrome, 301900 (3), X-linked recessive	Phf6 (MGI:1918248)
chrX	134460165	134500668	Xq26.2	Xq26.2-q26.3	308000	HPRT1, HPRT	Hypoxanthine phosphoribosyltransferase 1	HPRT1	3251	ENSG00000165704		Hyperuricemia, HRPT-related, 300323 (3), X-linked recessive; Lesch-Nyhan syndrome, 300322 (3), X-linked recessive	Hprt1 (MGI:96217)
chrX	134500001	138900000	Xq26.3		300795	CT45A4, CT45.4	Cancer/testis antigen family 45, member A4						
chrX	134500001	138900000	Xq26.3		300942	CXDUPq26.3, DUPXq26.3, XLAG	Chromosome Xq26.3 duplication syndrome					Chromosome Xq26.3 duplication syndrome, 300942 (4), X-linked dominant	
chrX	134500001	138900000	Xq26.3		300833	SRXX3	46XX sex reversal 3				due to deletion/duplication/rearrangement upstream of SOX3	46XX sex reversal 3, 300833 (4), X-linked dominant	
chrX	134546328	134546398	Xq26.3	Xq26.3	300865	MIR503	Micro RNA 503	MIR503	574506	ENSG00000208005			Mir503 (MGI:3619428)
chrX	134546614	134546711	Xq26.3	Xq26.3	300682	MIR424, MIRN424, MIR322	Micro RNA 424	MIR424	494336	ENSG00000284231			Mir322 (MGI:3619333)
chrX	134565838	134764322	Xq26	Xq26.3	300296	PLAC1	Placenta-specific gene 1	PLAC1	10761	ENSG00000170965			Plac1 (MGI:1926287)
chrX	134887632	134915257	Xq26.3	Xq26.3	300674	MOSPD1	Motile sperm domain-containing protein 1	MOSPD1	56180	ENSG00000101928			Mospd1 (MGI:1917630)
chrX	135032355	135033546	Xq26	Xq26.3	300213	RTL8C, CXX1	Retrotransposon GAG-like 8C	RTL8C	8933	ENSG00000134590			Rtl8a,Rtl8b,Rtl8c (MGI:1913408,MGI:1920115,MGI:3576504)
chrX	135156536	135171827	Xq26	Xq26.3	301105	CT55, SPGFX7	Cancer/Testis antigen 55	CT55	54967	ENSG00000169551	mutation identified in 1 SPGFX7 family	?Spermatogenic failure, X-linked, 7, 301106 (3), X-linked recessive	Ct55 (MGI:1922263)
chrX	135248589	135344109	Xq26	Xq26.3	314997	ZNF75D, ZNF75	Zinc finger protein-75D	ZNF75D	7626	ENSG00000186376	1Mb distal to HPRT		
chrX	135344796	135363413	Xq26.3	Xq26.3	300627	ZNF449, ZSCAN19	Zinc finger protein 449	ZNF449	203523	ENSG00000173275			Zfp449 (MGI:1925869)
chrX	135708398	135723228	Xq26.3	Xq26.3	300648	CT45A1, CT45	Cancer/testis antigen family 45, member A1	CT45A1	541466	ENSG00000268940			Ct45a (MGI:2685494)
chrX	135760044	135768191	Xq26.3	Xq26.3	300794	CT45A3, CT45.3	Cancer/testis antigen family 45, member A3	CT45A3	441519	ENSG00000269096			Ct45a (MGI:2685494)
chrX	135775852	135785503	Xq26.3	Xq26.3	300796	CT45A5, CT45.5	Cancer/testis antigen family 45, member A5	CT45A5	441521	ENSG00000228836			Ct45a (MGI:2685494)
chrX	135794685	135802787	Xq26.3	Xq26.3	300797	CT45A6, CT45.6	Cancer/testis antigen family 45, member A6	CT45A6	541465	ENSG00000278289			Ct45a (MGI:2685494)
chrX	135811668	135820066	Xq26.3	Xq26.3	300793	CT45A2, CT45.2	Cancer/testis antigen family 45, member A2	CT45A2	728911	ENSG00000271449			Ct45a (MGI:2685494)
chrX	135893716	135913062	Xq28	Xq26.3	300359	SAGE	Sarcoma antigen	SAGE1	55511	ENSG00000181433			
chrX	135960588	135973988	Xq26.3	Xq26.3	301098	MMGT1, EMC5	Membrane magnesium transporter 1	MMGT1	93380	ENSG00000169446			Mmgt1 (MGI:2384305)
chrX	135973837	136047269	Xq26.3	Xq26.3	300231	SLC9A6, NHE6, MRXSCH, NDPACX	Solute carrier family 9 (sodium/hydrogen exchanger), member 6	SLC9A6	10479	ENSG00000198689		Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, 301142 (3); Intellectual developmental disorder, X-linked syndromic, Christianson type, 300243 (3), X-linked	Slc9a6 (MGI:2443511)
chrX	136146702	136211359	Xq27.2	Xq26.3	300163	FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU	Four-and-a-half LIM domains 1	FHL1	2273	ENSG00000022267	mutation identified in 1 FCMSU family	Myopathy, X-linked, with postural muscle atrophy, 300696 (3), X-linked recessive; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3), X-linked recessive; ?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3), X-linked recessive; Scapuloperoneal myopathy, X-linked dominant, 300695 (3), X-linked dominant; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3), X-linked; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3), X-linked dominant	Fhl1 (MGI:1298387)
chrX	136213220	136256482	Xq26.3	Xq26.3	300930	MAP7D3, MDP3	MAP7 domain-containing protein 3	MAP7D3	79649	ENSG00000129680			Map7d3 (MGI:2445051)
chrX	136300963	136416890	Xq26.3	Xq26.3	301085	ADGRG4, GPR112	Adhesion G protein-coupled receptor G4	ADGRG4	139378	ENSG00000156920			Adgrg4 (MGI:2685213)
chrX	136487947	136493780	Xq26-q28	Xq26.3	300107	BRS3	Bombesin-like receptor 3	BRS3	680	ENSG00000102239			Brs3 (MGI:1100501)
chrX	136497229	136512346	Xq26.3	Xq26.3	300346	HTATSF1, TATSF1	HIV-1 TAT stimulatory factor 1	HTATSF1	27336	ENSG00000102241			Htatsf1 (MGI:1919709)
chrX	136532215	136556799	Xq26.1-q27.2	Xq26.3	300583	VGLL1, VGL1, TDU	Vestigial-like 1	VGLL1	51442	ENSG00000102243			Vgll1 (MGI:2655768)
chrX	136550878	136550960	Xq26.3	Xq26.3	301138	MIR934	Micro RNA 934	MIR934	100126324	ENSG00000216060			
chrX	136648158	136660390	Xq26	Xq26.3	300386	TNFSF5, CD40LG, HIGM1, IGM	Tumor necrosis factor ligand superfamily, member 5	CD40LG	959	ENSG00000102245	Between DSX144E and DSX300	Immunodeficiency, X-linked, with hyper-IgM, 308230 (3), X-linked recessive	Cd40lg (MGI:88337)
chrX	136665550	136780932	Xq26	Xq26.3	300267	ARHGEF6, COOL2	Rho guanine nucleotide exchange factor-6	ARHGEF6	9459	ENSG00000129675			Arhgef6 (MGI:1920591)
chrX	136869192	136880725	Xq26	Xq26.3	300199	RBMX, MRXS11, MRXSH, MRXSG	RNA-binding motif protein, X chromosome	RBMX	27316	ENSG00000147274	mutation identified in 1 MRXSSH family and 1 MRXSG family	?Intellectual developmental disorder, X-linked syndromic, Gustavson type, 309555 (3), X-linked recessive; ?Intellectual developmental disorder, X-linked syndromic, Shashi type, 300238 (3), X-linked recessive	Rbmx (MGI:1343044)
chrX	137023929	137033995	Xq26.3	Xq26.3	300393	GPR101, PAGH2, PITA2	G protein-coupled receptor 101	GPR101	83550	ENSG00000165370		Pituitary adenoma 2, GH-secreting, 300943 (3), X-linked	Gpr101 (MGI:2685211)
chrX	137566127	137577691	Xq26.2	Xq26.3	300265	ZIC3, HTX1, HTX, VACTERLX	Zic family, member 3	ZIC3	7547	ENSG00000156925		Congenital heart defects, nonsyndromic, multiple types, 1, X-linked, 306955 (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955 (3), X-linked recessive; VACTERL association, X-linked, 314390 (3), X-linked recessive	Zic3 (MGI:106676)
chrX	138614727	139205023	Xq26.3	Xq26.3-q27.1	300070	FGF13, FGF2, DEE90, XLID110	Fibroblast growth factor-13	FGF13	2258	ENSG00000129682		Developmental and epileptic encephalopathy 90, 301058 (3), X-linked recessive, X-linked dominant; Intellectual developmental disorder, X-linked 110, 301095 (3), X-linked recessive	Fgf13 (MGI:109178)
chrX	138712107	138716605	Xq26.3	Xq26.3	301087	FGF13AS1	FGF13 antisense RNA 1, noncoding	FGF13-AS1	100129662	ENSG00000226031			
chrX	138900001	148000000	Xq27		300536	BMND4	Bone mineral density QTL 4		554316			[Bone mineral density QTL 4], 300536 (2)	
chrX	138900001	143000000	Xq27.1-q27.2		302650	CDR1, CDR62A	Cerebellar degeneration-related protein-1, 34kD		1038		between HPRT and F9		Cdr1 (MGI:88359)
chrX	138900001	141200000	Xq27.1		300898	CDR1AS, CIRS7	CD$1 antisense RNA	CDR1-AS	103611090				
chrX	138900001	148000000	Xq27		300085	COD2	Cone dystrophy-2, X-linked		1275			Cone dystrophy, progressive X-linked, 2, 300085 (2), X-linked	
chrX	138900001	156040895	Xq27-q28		300147	HPCX1	Prostate cancer, hereditary, X-linked 1		9566		between D3S2390 and bG82i1.0	{Prostate cancer, hereditary, X-linked 1}, 300147 (2)	
chrX	138900001	141200000	Xq27.1		307700	HPT, HPTX, HYPX	Hypoparathyroidism				interstitial deletion/insertion on Xq27.1	Hypoparathyroidism, X-linked, 307700 (4), X-linked	
chrX	138900001	141200000	Xq27.1		307150	HTC2, HCG, CGH, CXINSq27.1	Hypertrichosis, congenital generalized				palindrome-mediated interchromosomal insertion at Xq27.1	Hypertrichosis, congenital generalized, 307150 (4), X-linked dominant	
chrX	138900001	148000000	Xq27		300228	TGCT1	Testicular germ cell tumor 1		50830			Testicular germ cell tumor, 300228 (2)	
chrX	139530739	139563459	Xq27.1-q27.2	Xq27.1	300746	F9, HEMB, THPH8	Coagulation factor IX (plasma thromboplastic component)	F9	2158	ENSG00000101981	distal to HPRT; proximal part of Xq27	{Deep venous thrombosis, protection against}, 300807 (3), X-linked recessive; Hemophilia B, 306900 (3), X-linked recessive; Thrombophilia 8, X-linked, due to factor IX defect, 300807 (3), X-linked recessive; {Warfarin sensitivity}, 301052 (3), X-linked	F9 (MGI:88384)
chrX	139581770	139708167	Xq27	Xq27.1	311030	MCF2, DBL	Oncogene MCF2 (oncogene DBL)	MCF2	4168	ENSG00000101977	~60kb telomeric to F9; 5' replacement by chr.15 segment		Mcf2 (MGI:96932)
chrX	139726348	139936903	Xq27	Xq27.1	300516	ATP11C, ATPIQ, ATPIG, HACXL	ATPase, class VI, type 11C	ATP11C	286410	ENSG00000101974	mutation identified in 1 HACXL patient	?Hemolytic anemia, congenital, X-linked, 301015 (3), X-linked recessive	Atp11c (MGI:1859661)
chrX	139924148	139924231	Xq27.1	Xq27.1	301053	MIR505	Micro RNA 505	MIR505	574508	ENSG00000207633			Mir505 (MGI:3629955)
chrX	140502985	140505069	Xq26.3	Xq27.1	313430	SOX3, MRGH	SRY (sex determining region Y)-box 3	SOX3	6658	ENSG00000134595	P mutant in BFLS	Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3), X-linked	Sox3 (MGI:98365)
chrX	141002594	141003706	Xq27.1-q27.3	Xq27.1	300669	SPANXB1, SPANXB	SPANX family, member B1	SPANXB1	728695	ENSG00000227234			
chrX	141173235	141177129	Xq27	Xq27.1	300402	LDOC1	Leucine zipper downregulated in cancer 1	LDOC1	23641	ENSG00000182195			Ldoc1 (MGI:2685212)
chrX	141200001	156040895	Xq27.2-q28		300388	BPP, PMGX, CBPS	Polymicrogyria, bilateral perisylvian				possible genetic heterogeneity	Polymicrogyria, bilateral perisylvian, 300388 (2), X-linked dominant	
chrX	141241463	141242517	Xq26.3-q27.1	Xq27.2	300330	SPANXC, CTP11	Sperm protein associated with the nucleus, X chromosome, family member C	SPANXC	64663	ENSG00000198573			
chrX	141583674	141584738	Xq27.1	Xq27.2	300305	SPANXA1, SPANX	Sperm protein associated with the nucleus, X chromosome, family member A1	SPANXA1	30014	ENSG00000198021			
chrX	141589708	141590762	Xq27.2	Xq27.2	300493	SPANXA2	Sperm protein associated with the nucleus, X chromosome, family member A2	SPANXA2	728712	ENSG00000203926			
chrX	141697411	141698739	Xq27.1	Xq27.2	300670	SPANXD	SPANX family, member D	SPANXD	64648	ENSG00000196406			
chrX	141838316	141897832	Xq27	Xq27.2	300469	MAGEC3	Melanoma antigen, family C, 3	MAGEC3	139081	ENSG00000165509			
chrX	141903894	141909374	Xq26	Xq27.2	300223	MAGEC1	Melanoma antigen, family C, 1	MAGEC1	9947	ENSG00000155495			Magec2 (MGI:1921687)
chrX	142202342	142205290	Xq27	Xq27.2	300468	MAGEC2, MAGEE1, CT10, HCA587	Melanoma antigen, family C, 2	MAGEC2	51438	ENSG00000046774			Magec2 (MGI:1921687)
chrX	143000001	156040895	Xq27.3-q28		300869	DUPXq27.3q28, CXDUPq27.3q28	Chromosome Xq27.3-q28 duplication syndrome					Chromosome Xq27.3-q28 duplication syndrome, 300869 (4), X-linked recessive	
chrX	143000001	148000000	Xq27.3		300509	DYX9	Dyslexia, susceptibility to, 9		474159		max lod at DXS8043	{Dyslexia, susceptibility to, 9}, 300509 (2)	
chrX	143000001	156040895	Xq27.3-qter		302000	EBM	Epidermolysis bullosa, macular type		1881				
chrX	143025928	143038637	Xq27	Xq27.3	300667	SPANXN4	SPANX family, member N4	SPANXN4	441525	ENSG00000189326			
chrX	143508735	143517475	Xq27	Xq27.3	300666	SPANXN3	SPANX family, member N3	SPANXN3	139067	ENSG00000189252			
chrX	143622790	143636101	Xq27	Xq27.3	300562	SLITRK4	SLIT- and NTRK-like family, member 4	SLITRK4	139065	ENSG00000179542			Slitrk4 (MGI:2442509)
chrX	143711955	143720752	Xq27	Xq27.3	300665	SPANXN2	SPANX family, member N2	SPANXN2	494119	ENSG00000268988			
chrX	145247503	145256208	Xq27	Xq27.3	300664	SPANXN1	SPANX family, member N1	SPANXN1	494118	ENSG00000203923			
chrX	145817829	145829856	Xq27	Xq27.3	300561	SLITRK2, KIAA1854, CXorf1, CXorf2, XLID111	SLIT- and NTRK-like family, member 2	SLITRK2	84631	ENSG00000185985		Intellectual developmental disorder, X-linked 111, 301107 (3), X-linked	Slitrk2 (MGI:2679449)
chrX	147230720	147230843	Xq27.3	Xq27.3	300877	MIR506	Micro RNA 506	MIR506	574511	ENSG00000207731			
chrX	147236913	147237027	Xq27.3	Xq27.3	300874	MIR508	Micro RNA 508	MIR508	574513	ENSG00000207589			
chrX	147259652	147259726	Xq27.3	Xq27.3	300876	MIR509-3	Micro RNA 509-3	MIR509-3	100126337	ENSG00000212014			
chrX	147260532	147260625	Xq27.3	Xq27.3	300875	MIR509-1	Micro RNA 509-2	MIR509-1	574514	ENSG00000208000			
chrX	147272335	147272408	Xq27.3	Xq27.3	300866	MIR510	Micro RNA 510	MIR510	574515	ENSG00000207641			
chrX	147909431	147911817	Xq27	Xq27.3	300805	FMR1AS1, ASFMR1	FMR1 antisense RNA 1	FMR1-AS1	100126270	ENSG00000268066			
chrX	147911919	147951125	Xq27.3	Xq27.3	309550	FMR1, FRAXA, POF1	Fragile X messenger ribonucleoprotein 1	FMR1	2332	ENSG00000102081	8-8.7Mb from telomere	Fragile X tremor/ataxia syndrome, 300623 (3), X-linked dominant; Fragile X syndrome, 300624 (3), X-linked dominant; Premature ovarian failure 1, 311360 (3), X-linked	Fmr1 (MGI:95564)
chrX	148000001	156040895	Xq28		300843	BED	Bornholm eye disease		100653365		linked to F8	Bornholm eye disease, 300843 (2), X-linked recessive	
chrX	148000001	156040895	Xq28		300815	DUPXq28, CXq28	Chromosome Xq28 duplication syndrome					Chromosome Xq28 duplication syndrome, 300815 (4)	
chrX	148000001	156040895	Xq28		305424	F8B, DXS522E	Factor VIII F8B				alternative F8 transcript		
chrX	148000001	156040895	Xq28		306995	HMS1, GAY1	Homosexuality, male					[?Homosexuality, male], 306995 (2), X-linked	
chrX	148000001	156040895	Xq28		309200	MAFD2, MDX	Major affective disorder 2		4096		linkage to G6PD,CB in non-Ashkenazi Jews	{?Major affective disorder 2}, 309200 (2), X-linked dominant	
chrX	148000001	156040895	Xq28		309620	MRSD, CHRS	Intellectual developmental disorder, X-linked, with skeletal dysplasia and abducens palsy		4364			Intellectual developmental disorder, X-linked, with skeletal dysplasia and abducens palsy, 309620 (2), X-linked	
chrX	148000001	156040895	Xq28		300845	MYMY4, CXDELq38	Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism and facial dysmorphism				contiguous gene deletion syndrome (3.4kb)	Moyamoya disease 4, 300845 (4), X-linked recessive	
chrX	148000001	156040895	Xq28		310460	MYP1	Myopia 1, X-linked		4657			Myopia-1, 310460 (2), X-linked recessive	
chrX	148000001	156040895	Xq28		300605	RP34	Retinitis pigmentosa 34		777642			Retinitis pigmentosa 34, 300605 (2)	
chrX	148000001	156040895	Xq28		300809	SLEB15	Systemic lupus erythematosus, susceptibility to, 15		100379200		associated with rs17435	{Systemic lupus erythematosus, susceptibility to, 15}, 300809 (2)	
chrX	148000001	156040895	Xq28		314300	TKCR, TKC	Torticollis, keloids, cryptorchidism and renal dysplasia		7085		distal to G6PD	Goeminne TKCR syndrome, 314300 (2), X-linked	
chrX	148000001	156040895	Xq28		314900	XM	Xm		7506		linked to DCB, PCB		
chrX	148500617	149000663	Xq28	Xq28	300806	AFF2, FMR2, FRAXE, XLID109	AF4/FMR2 family, member 2 (fragile site, X-linked, E)	AFF2	2334	ENSG00000155966		Intellectual developmental disorder, X-linked 109, 309548 (3), X-linked recessive	Aff2 (MGI:1202294)
chrX	149476988	149505306	Xq28	Xq28	300823	IDS, MPS2, SIDS	Iduronate 2-sulfatase (Hunter syndrome)	IDS	3423	ENSG00000010404	telomeric IDS2 source of inversion in IDS	Mucopolysaccharidosis II, 309900 (3), X-linked recessive	Ids (MGI:96417)
chrX	149540601	149555345	Xq27	Xq28	300954	EOLA1, CXorf40A	Endothelium- and lymphocyte-associated ASCH domain 1	EOLA1	91966	ENSG00000197620			Eola1 (MGI:1915868)
chrX	149581653	149587511	Xq28	Xq28	300764	MAGEA9B	Melanoma antigen, family A, 9B	MAGEA9B	728269	ENSG00000267978			Magea3,Magea5,Magea8,Magea9 (MGI:1333827,MGI:1333832,MGI:1333838,MGI:1917946)
chrX	149596556	149631792	Xq28	Xq28	300031	FAM11A, FRAXF	Family with sequence similarity 11, member A	TMEM185A	84548	ENSG00000269556			Tmem185a (MGI:2448555)
chrX	149688193	149717268	Xq28	Xq28	300344	MAGEA11, MAGE11	Melanoma antigen, family A, 11	MAGEA11	4110	ENSG00000185247			Magea3,Magea4,Magea5,Magea8 (MGI:1333827,MGI:1333832,MGI:1333838,MGI:1333839)
chrX	149781877	149787737	Xq28	Xq28	300342	MAGEA9, MAGE9	Melanoma antigen, family A, 9	MAGEA9	4108	ENSG00000123584			Magea3,Magea5,Magea8,Magea9 (MGI:1333827,MGI:1333832,MGI:1333838,MGI:1917946)
chrX	149825708	149879799	Xq28	Xq28	300892	LINC00850, KUCG1	Long intergenic noncoding RNA 850	LINC00850	101241891	ENSG00000280752			
chrX	149881183	149885825	Xq28	Xq28	300341	MAGEA8, MAGE8	Melanoma antigen, family A, 8	MAGEA8	4107	ENSG00000156009			Magea10,Magea2,Magea3,Magea4,Magea5 (MGI:1333793,MGI:1333832,MGI:1333838,MGI:1333839,MGI:3588211)
chrX	150361572	150514173	Xq28	Xq28	300120	MAMLD1, CXorf6, F18, HYSP2	Mastermind-like domain containing 1	MAMLD1	10046	ENSG00000013619	near MTM1 in microdeletion	Hypospadias 2, X-linked, 300758 (3), X-linked recessive	Mamld1 (MGI:3045303)
chrX	150562653	150673143	Xq28	Xq28	300415	MTM1, MTMX, CNMX	Myotubularin	MTM1	4534	ENSG00000171100	close to F8	Myopathy, centronuclear, X-linked, 310400 (3), X-linked recessive	Mtm1 (MGI:1099452)
chrX	150692962	150765108	Xq28	Xq28	300171	MTMR1	Myotubularin-related protein-1	MTMR1	8776	ENSG00000063601			Mtmr1 (MGI:1858271)
chrX	150766336	150898668	Xq28	Xq28	300846	CD99L2, CD99B	CD99 antigen-like 2	CD99L2	83692	ENSG00000102181			Cd99l2 (MGI:2177151)
chrX	150980507	150990771	Xq28	Xq28	300193	HMGB3, HMG4, HMG2A, MCOPS13	High-mobility group box 3 (high mobility group protein 4)	HMGB3	3149	ENSG00000029993	mutation identified in 1 MCOPS13 family	?Microphthalmia, syndromic 13, 300915 (3), X-linked	Hmgb3 (MGI:1098219)
chrX	151176584	151182856	Xq28	Xq28	300207	GPR50	G protein-coupled receptor 50	GPR50	9248	ENSG00000102195			Gpr50 (MGI:1333877)
chrX	151396595	151409364	Xq28	Xq28	300913	VMA21, XMEA	Vma21, S. cerevisiae, homolog of	VMA21	203547	ENSG00000160131		Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive	Vma21 (MGI:1914298)
chrX	151563675	151676739	Xq28	Xq28	300993	PASD1, CT64, OXTES1	PAS domain-containing repressor 1	PASD1	139135	ENSG00000166049			Pasd1 (MGI:2685987)
chrX	151694607	151705924	Xq28	Xq28	300685	PRRG3, PRGP3, TMG3	Proline-rich gamma-carboxyglutamic acid protein 3	PRRG3	79057	ENSG00000130032			Prrg3 (MGI:2685214)
chrX	151716035	151723194	Xq28	Xq28	300450	FATE1	Fetal and adult testis-expressed gene 1	FATE1	89885	ENSG00000147378			Fate1 (MGI:1925155)
chrX	151734746	151745564	Xq27	Xq28	300338	CNGA2, CNG2, OCNC1	Cyclic nucleotide-gated channel, alpha-2	CNGA2	1260	ENSG00000183862			Cnga2 (MGI:108040)
chrX	151912474	151925170	Xq28	Xq28	300175	MAGEA4, MAGE4A, MAGE4B	Melanoma antigen, family A, 4	MAGEA4	4103	ENSG00000147381			Magea1,Magea10,Magea2,Magea3,Magea4,Magea5,Magea6,Magea8 (MGI:1333793,MGI:1333827,MGI:1333832,MGI:1333834,MGI:1333837,MGI:1333838,MGI:1333839,MGI:3588211)
chrX	151953124	151974676	Xq28	Xq28	300093	GABRE	Gamma-aminobutyric acid (GABA) A receptor, epsilon	GABRE	2564	ENSG00000102287			Gabre (MGI:1330235)
chrX	151958578	151958658	Xq28	Xq28	300769	MIR224, MIRN224	Micro RNA 224	MIR224	407009	ENSG00000284363			Mir224 (MGI:3619129)
chrX	152114049	152117939	Xq28	Xq28	300340	MAGEA5, MAGE5	Melanoma antigen, family A, 5	MAGEA5P	4104				
chrX	152133310	152138577	Xq28	Xq28	300343	MAGEA10, MAGE10	Melanoma antigen, family A, 10	MAGEA10	4109	ENSG00000124260			Magea1,Magea10,Magea14,Magea2,Magea3,Magea4,Magea5,Magea6,Magea8,Magea9 (MGI:1333793,MGI:1333827,MGI:1333832,MGI:1333834,MGI:1333837,MGI:1333838,MGI:1333839,MGI:1917946,MGI:1921529,MGI:3588211)
chrX	152166234	152451315	Xq28	Xq28	305660	GABRA3, EPILX2	Gamma-aminobutyric acid (GABA) A receptor, alpha-3	GABRA3	2556	ENSG00000011677	4Mb from telomere	Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, 301091 (3), X-linked	Gabra3 (MGI:95615)
chrX	152392219	152392299	Xq28	Xq28	300811	MIR105-1, MIRN105-1	Micro RNA 105-1	MIR105-1	406897	ENSG00000207957			Mir105 (MGI:3718453)
chrX	152394412	152394492	Xq28	Xq28	300812	MIR105-2, MIRN105-2	Micro RNA 105-2	MIR105-2	406898	ENSG00000207818			Mir105 (MGI:3718453)
chrX	152637895	152658965	Xq28	Xq28	300349	GABRQ	Gamma-aminobutyric acid receptor, theta	GABRQ	55879	ENSG00000268089			Gabrq (MGI:1888498)
chrX	152698794	152702347	Xq28	Xq28	300174	MAGEA3, MAGE3	Melanoma antigen, family A, 3	MAGEA3	4102	ENSG00000221867			Magea3,Magea5,Magea8,Magea9 (MGI:1333827,MGI:1333832,MGI:1333838,MGI:1917946)
chrX	152708261	152709391	Xq28	Xq28	301096	CSAG2, TRAG3	CSAG family, member 2	CSAG2	102723547	ENSG00000268902			
chrX	152714586	152718607	Xq28	Xq28	300549	MAGEA2B	Melanoma antigen, family A, 2B	MAGEA2B	266740	ENSG00000183305			Magea10,Magea2,Magea3,Magea4,Magea5 (MGI:1333793,MGI:1333832,MGI:1333838,MGI:1333839,MGI:3588211)
chrX	152727484	152733721	Xq28	Xq28	300944	CSAG1, CSAGE	CSAG family, member 1 `	CSAG1	158511	ENSG00000198930			
chrX	152733757	152737669	Xq28	Xq28	300177	MAGEA12, MAGE12	Melanoma antigen, family A, 12	MAGEA12	4111	ENSG00000213401			Magea10,Magea2,Magea3,Magea4,Magea5 (MGI:1333793,MGI:1333832,MGI:1333838,MGI:1333839,MGI:3588211)
chrX	152749863	152753884	Xq28	Xq28	300173	MAGEA2, MAGE2	Melanoma antigen, family A, 2	MAGEA2	4101	ENSG00000268606			Magea10,Magea2,Magea3,Magea4,Magea5 (MGI:1333793,MGI:1333832,MGI:1333838,MGI:1333839,MGI:3588211)
chrX	152753921	152760219	Xq28	Xq28	301097	CSAG3	CSAG family, member 3	CSAG3	389903	ENSG00000268916			
chrX	152766136	152769689	Xq28	Xq28	300176	MAGEA6, MAGE6	Melanoma antigen, family A, 6	MAGEA6	4105	ENSG00000197172			Magea3,Magea5,Magea8,Magea9 (MGI:1333827,MGI:1333832,MGI:1333838,MGI:1917946)
chrX	152826994	152830757	Xq28	Xq28	300006	CETN2, CALT	Centrin, EF-hand protein, 2 (caltractin)	CETN2	1069	ENSG00000147400			Cetn2 (MGI:1347085)
chrX	152831063	152869729	Xq28	Xq28	300275	NSDHL	NAD(P)H steroid dehydrogenase-like protein	NSDHL	50814	ENSG00000147383		CK syndrome, 300831 (3), X-linked recessive; CHILD syndrome, 308050 (3), X-linked dominant	Nsdhl (MGI:1099438)
chrX	152898067	152973481	Xq28	Xq28	300381	ZNF185	Zinc finger protein 185	ZNF185	7739	ENSG00000147394			Zfp185 (MGI:108095)
chrX	152988824	152994116	Xq28	Xq28	300916	PNMA5, KIAA1934	Paraneoplastic MA antigen family, member 5	PNMA5	114824	ENSG00000198883			Pnma5 (MGI:2180566)
chrX	153056470	153060462	Xq28	Xq28	300675	PNMA3, MA3	Paraneoplastic MA antigen 3	PNMA3	29944	ENSG00000183837			Pnma3 (MGI:2180565)
chrX	153072454	153075019	Xq28	Xq28	300917	PNMA6A, PNMA6	Paraneoplastic MA antigen family, member 6A	PNMA6A	84968	ENSG00000235961			
chrX	153179284	153183880	Xq28	Xq28	300016	MAGE1	Melanoma antigen 1 (directs expression of antigen MZ2-E)	MAGEA1	4100	ENSG00000198681	cluster of 12 genes		Magea14,Magea3,Magea5,Magea8,Magea9 (MGI:1333827,MGI:1333832,MGI:1333838,MGI:1917946,MGI:1921529)
chrX	153411472	153426481	Xq28	Xq28	301139	ZFP92, ZNF897	Zinc finger protein 92	ZFP92	139735	ENSG00000189420			Zfp92 (MGI:108094)
chrX	153444473	153446056	Xq28	Xq28	300370	TREX2	3-prime repair exonuclease 2	TREX2	11219	ENSG00000183479			Trex2 (MGI:1346343)
chrX	153447668	153495465	Xq28	Xq28	300540	HAUS7, UCHL5IP, UIP1	HAUS augmin-like complex, subunit 7	HAUS7	55559	ENSG00000213397			Haus7 (MGI:1920988)
chrX	153494980	153509546	Xq28	Xq28	301870	BGN, SEMDX, MRLS	Biglycan	BGN	633	ENSG00000182492	proximal Xq28	Meester-Loeys syndrome, 300989 (3), X-linked; Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3), X-linked recessive	Bgn (MGI:88158)
chrX	153517642	153582929	Xq28	Xq28	300014	ATP2B3, PMCA3, SCAX1	ATPase, Ca++ transporting, plasma membrane, 3	ATP2B3	492	ENSG00000067842	mutation identified in 1 family	?Spinocerebellar ataxia, X-linked 1, 302500 (3), X-linked recessive	Atp2b3 (MGI:1347353)
chrX	153587925	153599139	Xq28	Xq28	300708	CCNQ, FAM58A, STAR	Cyclin Q	CCNQ	92002	ENSG00000262919		STAR syndrome, 300707 (3), X-linked dominant	Ccnq (MGI:1916359)
chrX	153642441	153651326	Xq28	Xq28	300134	DUSP9, MKP4	Dual-specificity phosphatase 9	DUSP9	1852	ENSG00000130829			Dusp9 (MGI:2387107)
chrX	153669733	153687771	Xq28	Xq28	300680	PNCK, CAMK1B, BSTK3	Pregnancy-upregulated, nonubiquitous, CAM kinase	PNCK	139728	ENSG00000130822			Pnck (MGI:1347357)
chrX	153687926	153696593	Xq28	Xq28	300036	SLC6A8, CRTR, CCDS1	Solute carrier family 6 (neurotransmitter transporter, creatine), member 8	SLC6A8	6535	ENSG00000130821	distal to G6PD	Cerebral creatine deficiency syndrome 1, 300352 (3), X-linked recessive	Slc6a8 (MGI:2147834)
chrX	153700492	153724387	Xq28	Xq28	300398	BCAP31, BAP31, DXS1357E, DDCH	B-cell receptor-associated protein 31	BCAP31	10134	ENSG00000185825		Deafness, dystonia, and cerebral hypomyelination, 300475 (3), X-linked recessive	Bcap31 (MGI:1350933)
chrX	153724856	153744755	Xq28	Xq28	300371	ABCD1, ALD, AMN	ATP-binding cassette, subfamily D, member 1	ABCD1	215	ENSG00000101986	about 650kb from GCP/RCP	Adrenoleukodystrophy, 300100 (3), X-linked recessive; Adrenomyeloneuropathy, adult, 300100 (3), X-linked recessive	Abcd1 (MGI:1349215)
chrX	153764249	153779341	Xq28	Xq28	300214	PLXNB3, PLXN6	Plexin B3	PLXNB3	5365	ENSG00000198753			Plxnb3 (MGI:2154240)
chrX	153781041	153785730	Xq28	Xq28	301002	SRPK3, STK23, MSSK1, XLID114	SRSF protein kinase 3	SRPK3	26576	ENSG00000184343		Intellectual developmental disorder, X-linked 114, 301134 (3), X-linked	Srpk3 (MGI:1891338)
chrX	153785768	153794375	Xq28	Xq28	300089	IDH3G	Isocitrate dehydrogenase (NAD+) 3, noncatalytic, gamma subunit	IDH3G	3421	ENSG00000067829			Idh3g (MGI:1099463)
chrX	153794159	153798512	Xq28	Xq28	300090	SSR4, TRAPD, CDG1Y	Signal sequence receptor, delta	SSR4	6748	ENSG00000180879		Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive	Ssr4 (MGI:1099464)
chrX	153802166	153830544	Xq28	Xq28	300634	PDZD4, PDZK4, PDZRN4L, KIAA1444, LU1	PDZ domain-containing 4	PDZD4	57595	ENSG00000067840			Pdzd4 (MGI:2443483)
chrX	153861514	153886173	Xq28	Xq28	308840	L1CAM, CAML1, HYCX, MASA, SPG1	L1 cell adhesion molecule	L1CAM	3897	ENSG00000198910	mutation identified in 1 PACCX family	MASA syndrome, 303350 (3), X-linked recessive; Hydrocephalus, congenital, X-linked, 307000 (3), X-linked recessive; ?Corpus callosum, partial agenesis of, 304100 (3), X-linked recessive	L1cam (MGI:96721)
chrX	153902625	153907166	Xq28	Xq28	300538	AVPR2, DIR, DI1, ADHR, NDI1	Arginine vasopressin receptor-2	AVPR2	554	ENSG00000126895		Diabetes insipidus, nephrogenic, 1, 304800 (3), X-linked recessive; Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3), X-linked recessive	Avpr2 (MGI:88123)
chrX	153907378	153926264	Xq28	Xq28	300023	RGC1	Rho-GAP hematopoietic protein C1	ARHGAP4	393	ENSG00000089820			Arhgap4 (MGI:2159577)
chrX	153929225	153935037	Xq28	Xq28	300013	NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1	N-alpha-acetyltransferase 10, NatA catalytic subunit	NAA10	8260	ENSG00000102030		Microphthalmia, syndromic 1, 309800 (3), X-linked; Ogden syndrome, 300855 (3), X-linked recessive, X-linked dominant	Naa10 (MGI:1915255)
chrX	153935269	153944643	Xq28	Xq28	312420	RENBP	Renin-binding protein	RENBP	5973	ENSG00000102032			Renbp (MGI:105940)
chrX	153947557	153971818	Xq28	Xq28	300019	HCFC1, HCF1, MAHCX, XLID3	Host cell factor C1 (VP16-accessory protein)	HCFC1	3054	ENSG00000172534	50kb distal to V2R	Methylmalonic aciduria and homocysteinemia, cblX type, 309541 (3), X-linked recessive	Hcfc1 (MGI:105942)
chrX	153972754	153983194	Xq28	Xq28	300059	TMEM187, CXorf12, DXS9878E, ITBA1 gene	Transmembrane protein 187	TMEM187	8269	ENSG00000177854			
chrX	154010507	154019902	Xq28	Xq28	300283	IRAK1	Interleukin 1 receptor-associated kinase 1	IRAK1	3654	ENSG00000184216			Irak1 (MGI:107420)
chrX	154019920	154019989	Xq28	Xq28	300929	MIR718	Micro RNA 718	MIR718	100313781	ENSG00000284286			Mir718 (MGI:3629956)
chrX	154021573	154097717	Xq28	Xq28	300005	MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13	Methyl-CpG-binding protein-2	MECP2	4204	ENSG00000169057	70kb centromeric of RCP/GCP	Rett syndrome, atypical, 312750 (3), X-linked dominant; Encephalopathy, neonatal severe, 300673 (3), X-linked recessive; Intellectual developmental disorder, X-linked syndromic, Lubs type, 300260 (3), X-linked recessive; {Autism susceptibility, X-linked 3}, 300496 (3), X-linked; Intellectual developmental disorder, X-linked syndromic 13, 300055 (3), X-linked recessive; Rett syndrome, 312750 (3), X-linked dominant; Rett syndrome, preserved speech variant, 312750 (3), X-linked dominant	Mecp2 (MGI:99918)
chrX	154137727	154144286	Xq28	Xq28	300824	OPN1C	OPN1LW and OPN1MW genes, controller of		107604627				
chrX	154144243	154159032	Xq28	Xq28	300822	OPN1LW, RCP, CBP, CBBM	Red cone pigment (opsin 1, long-wave-sensitive)	OPN1LW	5956	ENSG00000102076	5' to CBD	Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, protan, 303900 (3), X-linked	Opn1mw (MGI:1097692)
chrX	154182596	154196861	Xq28	Xq28	300821	OPN1MW, GCP, CBD, CBBM	Green cone pigment (opsin 1, medium-wave-sensitive)	OPN1MW	2652	ENSG00000268221	linked to G6PD; multiple genes	Colorblindness, deutan, 303800 (3), X-linked; Blue cone monochromacy, 303700 (3), X-linked recessive	Opn1mw (MGI:1097692)
chrX	154271265	154295211	Xq28	Xq28	300092	TEX28	Testis-expressed gene on Xq28	TEX28	1527	ENSG00000278057			Tex28 (MGI:2686384)
chrX	154295795	154330350	Xq28	Xq28	300044	TKTL1, TKT2, TKR	Transketolase-like 1	TKTL1	8277	ENSG00000007350	between GCP and FLN1		Tktl1 (MGI:1933244)
chrX	154348531	154374634	Xq28	Xq28	300017	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	Filamin A, alpha (actin-binding protein-280)	FLNA	2316	ENSG00000196924	mutation identified in 1 FGS2 patient	Otopalatodigital syndrome, type II, 304120 (3), X-linked dominant; Intestinal pseudoobstruction, neuronal, 300048 (3), X-linked recessive; Cardiac valvular dysplasia, X-linked, 314400 (3), X-linked; ?FG syndrome 2, 300321 (3), X-linked; Melnick-Needles syndrome, 309350 (3), X-linked dominant; Terminal osseous dysplasia, 300244 (3), X-linked dominant; Congenital short bowel syndrome, 300048 (3), X-linked recessive; Otopalatodigital syndrome, type I, 311300 (3), X-linked dominant; Heterotopia, periventricular, 1, 300049 (3), X-linked dominant; Frontometaphyseal dysplasia 1, 305620 (3), X-linked recessive	Flna (MGI:95556)
chrX	154379295	154381523	Xq28	Xq28	300384	EMD, EDMD, STA	Emerin	EMD	2010	ENSG00000102119	in distal Xq28	Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3), X-linked recessive	Emd (MGI:108117)
chrX	154398065	154402339	Xq28	Xq28	312173	RPL10, DXS648, QM, AUTSX5, MRXS35	Ribosomal protein L10	RPL10	6134	ENSG00000147403		{Autism, susceptibility to, X-linked 5}, 300847 (3); Intellectual developmental disorder, X-linked syndromic 35, 300998 (3), X-linked recessive	Rpl10,Rpl10-ps3 (MGI:105943,MGI:3704336)
chrX	154401236	154412101	Xq28	Xq28	300081	DNASE1L1, DNL1L	Deoxyribonuclease I-like 1	DNASE1L1	1774	ENSG00000013563	between QM and DXS1010E		Dnase1l1 (MGI:109628)
chrX	154411539	154421726	Xq28	Xq28	300394	TAFAZZIN, TAZ, EFE2, BTHS, CMD3A, LVNCX	Tafazzin	TAFAZZIN	6901	ENSG00000102125		Barth syndrome, 302060 (3), X-linked recessive	Tafazzin (MGI:109626)
chrX	154428677	154436516	Xq28	Xq28	300197	ATP6AP1, ATP6IP1, ATP6S1, VATPS1	ATPase, H+ transporting, lysosomal, accessory protein 1	ATP6AP1	537	ENSG00000071553		Immunodeficiency 47, 300972 (3), X-linked recessive	Atp6ap1 (MGI:109629)
chrX	154437154	154443467	Xq28	Xq28	300104	GDI1, RABGD1A, MRX41, MRX48, XLID41	GDP dissociation inhibitor 1	GDI1	2664	ENSG00000203879		Intellectual developmental disorder, X-linked 41, 300849 (3), X-linked dominant	Gdi1 (MGI:99846)
chrX	154444141	154450654	Xq28	Xq28	300453	FAM50A, DXS9928E, HXC26, MRXSA	Family with sequence similarity 50, member A	FAM50A	9130	ENSG00000071859		Intellectual developmental disorder, X-linked syndromic, Armfield type, 300261 (3), X-linked recessive	Fam50a (MGI:1351626)
chrX	154458281	154477779	Xq28	Xq28	300022	SEX	Sex chromosome X transmembrane protein of HGF receptor family 3	PLXNA3	55558	ENSG00000130827			Plxna3 (MGI:107683)
chrX	154477775	154479281	Xq28	Xq28	300060	LAGE3, ITBA2, GAMOS2	L antigen family member 3	LAGE3	8270	ENSG00000196976		Galloway-Mowat syndrome 2, X-linked, 301006 (3), X-linked recessive	Lage3 (MGI:1913442)
chrX	154483717	154486615	Xq28	Xq28	312070	UBL4A, GDX, UBL4, DX254E	Ubiquitin-like 4A	UBL4A	8266	ENSG00000102178	40kb 3' to G6PD		Gm44504,Ubl4a (MGI:5621304,MGI:95049)
chrX	154487311	154490629	Xq28	Xq28	312090	SLC10A3, P3	Solute carrier family 10 (sodium/bile acid cotransporter family) member 3 (protein p3)	SLC10A3	8273	ENSG00000126903	order: G6PD-3'-(7kb)-5'-P3-3'-(0.5kb)-5'-GDX		Slc10a3 (MGI:95048)
chrX	154506171	154516232	Xq28	Xq28	300492	FAM3A	Family with sequence similarity 3, member A	FAM3A	60343	ENSG00000071889			Fam3a (MGI:1913544)
chrX	154531390	154547569	Xq28	Xq28	305900	G6PD, G6PD1, CNSHA1	Glucose-6-phosphate dehydrogenase	G6PD	2539	ENSG00000160211		Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient, 300908 (3), X-linked; {Resistance to malaria due to G6PD deficiency}, 611162 (3)	G6pd2,G6pdx (MGI:105977,MGI:105979)
chrX	154541238	154565046	Xq28	Xq28	300248	IKBKG, NEMO, FIP3, IP, EDAID1, IMD33, SAIDX	Inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma	IKBKG	8517	ENSG00000269335		Incontinentia pigmenti, 308300 (3), X-linked dominant; Ectodermal dysplasia and immunodeficiency 1, 300291 (3), X-linked recessive; Immunodeficiency 33, 300636 (3), X-linked recessive; Autoinflammatory disease, systemic, X-linked, 301081 (3), X-linked	Ikbkg (MGI:1338074)
chrX	154585133	154586816	Xq28	Xq28	300657	CTAG1A, LAGE2A	Cancer/testis antigen 1A	CTAG1A	246100	ENSG00000268651			Ctag2l1 (MGI:3644285)
chrX	154617609	154619282	Xq28	Xq28	300156	CTAG1B, CTAG1	Cancer/testis antigen 1B	CTAG1B	1485	ENSG00000184033			Ctag2l1 (MGI:3644285)
chrX	154651977	154653579	Xq28	Xq28	300396	CTAG2, LAGE1, CAMEL	Cancer/testis antigen 2	CTAG2	30848	ENSG00000126890			
chrX	154675249	154751566	Xq28	Xq28	300482	GAB3	GRB2-associated binding protein 3	GAB3	139716	ENSG00000160219			Gab3 (MGI:2387324)
chrX	154762864	154777689	Xq28	Xq28	300126	DKC1, DKCX, CHINE1	Dyskerin	DKC1	1736	ENSG00000130826	mutation identified in 1 CHINE1 family	?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1, 301108 (3), X-linked dominant; Dyskeratosis congenita, X-linked, 305000 (3), X-linked recessive	Dkc1 (MGI:1861727)
chrX	154778684	154805485	Xq28	Xq28	305360	MPP1, PEMP, EMP55	Membrane protein, palmitoylated-1, 55kD	MPP1	4354	ENSG00000130830	~30kb 3' and centromeric to F8		Mpp1 (MGI:105941)
chrX	154835792	155022723	Xq28	Xq28	300841	F8, F8C, HEMA, THPH13	Coagulation factor VIII, procoagulant component	F8	2157	ENSG00000185010	cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere	Thrombophilia 13, X-linked, due to factor VIII defect, 301071 (3); Hemophilia A, 306700 (3), X-linked recessive	F8 (MGI:88383)
chrX	154884972	154885558	Xq28	Xq28	301037	H2AB1, H2AFB1	H2A.B variant histone 1	H2AB1	474382	ENSG00000274183			H2ab1,H2ab2,H2ab3 (MGI:3642445,MGI:3644875,MGI:3644980)
chrX	154886355	154888061	Xq28	Xq28	305423	F8A1, DXS522E, HAP40	Coagulation factor VIII associated 1	F8A1	8263	ENSG00000288722	3 copies, 1 in intron 22 of F8C		F8a (MGI:95474)
chrX	155026844	155060304	Xq28	Xq28	301042	FUNDC2, HCBP6, HCC3	FUN14 domain-containing protein 2	FUNDC2	65991	ENSG00000165775			Fundc2,Fundc2b (MGI:1914641,MGI:1920547)
chrX	155061622	155071136	Xq28	Xq28	301088	CMC4, MTCP1NB	C-X9-C mitif-containing protein 4	CMC4	100272147	ENSG00000182712			Cmc4,Mtcp1 (MGI:102699,MGI:5637812)
chrX	155064034	155071136	Xq28	Xq28	300116	MTCP1	Mature T-cell proliferation 1	MTCP1	4515	ENSG00000214827			Mtcp1 (MGI:102699)
chrX	155071508	155123077	Xq28	Xq28	300617	BRCC3, BRCC36	BRCA1/BRCA2-containing complex, subunit 3	BRCC3	79184	ENSG00000185515			Brcc3,Brcc3dc (MGI:2389572,MGI:3647286)
chrX	155197007	155239841	Xq28	Xq28	300133	VBP1	Von Hippel-Lindau binding protein-1	VBP1	7411	ENSG00000155959			Vbp1 (MGI:1333804)
chrX	155258235	155264491	Xq28	Xq28	300774	RAB39B, XLID72, WSMN, MRX72	RAB39B, member Ras oncogene family	RAB39B	116442	ENSG00000155961		Intellectual developmental disorder, X-linked 72, 300271 (3), X-linked recessive; Waisman syndrome, 311510 (3), X-linked recessive	Rab39b (MGI:1915040)
chrX	155276211	155334614	Xq28	Xq28	300138	CLIC2, XAP121	Chloride intracellular channel 2	CLIC2	1193	ENSG00000155962			
chrX	155380709	155381299	Xq28	Xq28	301038	H2AB2, H2AFB2	H2A.B variant histone 2	H2AB2	474381	ENSG00000277858			H2ab1,H2ab2,H2ab3 (MGI:3642445,MGI:3644875,MGI:3644980)
chrX	155459415	155460005	Xq28	Xq28	300445	H2AB3, H2AFB, H2ABBD	H2A.B variant histone 3	H2AB3	83740	ENSG00000277745			H2ab1,H2ab2,H2ab3 (MGI:3642445,MGI:3644875,MGI:3644980)
chrX	155489011	155612952	Xq28	Xq28	300777	TMLHE, BBOX2, TMLH, TMLHED, AUTSX6	Epsilon-trimethyllysine hydroxylase	TMLHE	55217	ENSG00000185973		{Autism, susceptibility to, X-linked 6}, 300872 (3), X-linked recessive	Tmlhe (MGI:2180203)
chrX	155612586	155782459	Xq28	Xq28	300531	SPRY3	Sprouty RTK signaling antagonist 3	SPRY3	10251	ENSG00000168939	in pseudoautosomal region PAR2		Spry3 (MGI:1345188)
chrX	155881345	155943769	Xq28	Xq28	300053	VAMP7, SYBL1, TIVAMP	Vesicle-associated membrane protein 7	VAMP7	6845	ENSG00000124333			Vamp7 (MGI:1096399)
chrX	155997696	156013020	Xq28	Xq28	300007	IL9R	Interleukin-9 receptor	IL9R	3581	ENSG00000124334	in PAR2 pseudoautosomal region		Il9r (MGI:96564)
chrX	1	156040895	Chr.X		300864	CCCSX	Cerebral-cerebellar-coloboma syndrome, X-linked		100820758			Cerebral-cerebellar-coloboma syndrome, X-linked, 300864 (2), X-linked recessive	
chrX	1	156040895	Chr.X		300471	CVMRF	Cubitus valgus with impaired intellectual development and unusual facies		494028			Cubitus valgus with impaired intellectual development and unusual facies, 300471 (2), X-linked recessive	
chrX	1	156040895	Chr.X		300719	DFCTRPS	Deafness, cataract, retinitis pigmentosa, and sperm abnormalities		100188774			Deafness, cataract, retinitis pigmentosa, and sperm abnormalities, 300719 (2), X-linked recessive	
chrX	1	156040895	Chr.X		300345	MCOPCB1	Microphthalmia, isolated, with coloboma 1		85503			Microphthalmia with coloboma 1, 300345 (2)	
chrX	1	156040895	Chr.X		300886	MRXS32	Intellectual developmental disorder, X-linked, syndromic 32		135933881			Intellectual developmental disorder, X-linked, syndromic 32, 300886 (2), X-linked recessive	
chrX	1	156040895	Chr.X		300484	OFD8	Orofaciodigital syndrome VIII					Orofaciodigital syndrome VIII, 300484 (2), X-linked recessive	
chrX	1	156040895	Chr.X		300716	XLID95, MRX95	Intellectual developmental disorder, X-linked 95		102775568			Intellectual developmental disorder, X-linked 95, 300716 (2), X-linked dominant	
chrY	1	300000	Yp11.32		400046	PLCXD1Y	Phospholipase C, phosphatidylinositol-specific, X domain-containing protein 1				in pseudoautosomal region		
chrY	1	10400000	Yp11		489500	XGR	XG regulator				in pseudoautosomal region		
chrY	600001	10300000	Yp11.2		400049	DHRSY, CDG1DD	Dehydrogenase/reductase, Y-linked		138637319		in pseudoautosomal region	Congenital disorder of glycosylation, type 1DD, 301133 (3), Pseudoautosomal recessive	
chrY	624344	659411	Ypter-p11.2	Yp11.2	400020	SHOXY	Short stature homeobox, Y-linked	SHOX	6473	ENSG00000185960	pseudoautosomal	Short stature, idiopathic familial, 300582 (3); Langer mesomelic dysplasia, 249700 (3), Pseudoautosomal recessive; Leri-Weill dyschondrosteosis, 127300 (3), Pseudoautosomal dominant	
chrY	1190490	1212649	Yp11.3	Yp11.2	400023	CRLF2Y	Cytokine receptor-like factor 2, Y-linked	CRLF2	64109	ENSG00000205755	pseudoautosomal		Crlf2 (MGI:1889506)
chrY	1268814	1325218	Yp11	Yp11.2	425000	CSF2RY	Granulocyte-macrophage colony-stimulating factor receptor, alpha subunit (Y chromosome)	CSF2RA	1438	ENSG00000198223	306250 = X homolog; distal to MIC2Y		Csf2ra (MGI:1339754)
chrY	1336785	1382689	Yp11.3	Yp11.2	430000	IL3RA, IL3RY, IL3RAY	Interleukin-3 receptor (Y chromosome)	IL3RA	3563	ENSG00000185291	308385 = X homolog; pseudoautosomal		Il3ra (MGI:96553)
chrY	1386152	1392113	Yp	Yp11.2	403000	ANT3Y	Adenine nucleotide translocator-3 (Y chromosome)	SLC25A6	293	ENSG00000169100	300151 = X homolog; proximal to CSF2RY		
chrY	1403139	1453756	Ypter-p11.2	Yp11.2	400011	ASMTLY	Acetylserotonin methyltransferase-like, Y-linked	ASMTL	8623	ENSG00000169093			
chrY	1591604	1602520	Ypter-p11.2	Yp11.2	465000	AKAP17A, SFRS17A, XE7Y	A kinase (PRKA) anchor protein 17A	AKAP17A	8227	ENSG00000197976	see 300015 locus		Akap17b (MGI:2443758)
chrY	1615059	1643081	Ypter-p11.2	Yp11.2	402500	ASMTY	Acetylserotonin methyltransferase (Y chromosome)	ASMT	438	ENSG00000196433	pseudoautosomal		Asmt (MGI:96090)
chrY	2691295	2741309	Ypter-p11.2	Yp11.2	450000	MIC2Y	Antigen identified by monoclonal 12E7, Y homolog	CD99	4267	ENSG00000002586	pseudoautosomal		Cd99 (MGI:1913728)
chrY	2786855	2787682	Yp11.3	Yp11.2	480000	SRY, TDF, TDY, SRXX1, SRXY1	Sex-determining region Y (testis determining factor)	SRY	6736	ENSG00000184895		46XY sex reversal 1, 400044 (3), Y-linked; 46XX sex reversal 1, 400045 (4), X-linked dominant	Sry (MGI:98660)
chrY	2841602	2867268	Yp11.3	Yp11.2	470000	RPS4Y1	Ribosomal protein S4, Y-linked, 1	RPS4Y1	6192	ENSG00000129824			Rps4x (MGI:98158)
chrY	2935381	2982506	Yp11.3	Yp11.2	490000	ZFY	Zinc finger protein, Y-linked	ZFY	7544	ENSG00000067646			Zfa-ps (MGI:99153)
chrY	3579067	3580041	Yp11.2	Yp11.2	400025	TGIF2LY, TGIFLY	Transforming growth factor-beta-induced factor 2-like, Y-linked	TGIF2LY	90655	ENSG00000176679			Tgif2lx1,Tgif2lx2 (MGI:2387796,MGI:3800824)
chrY	5000296	5742228	Yp11.2	Yp11.2	400022	PCDH11Y, PCDH22, PCDHY	Protocadherin 22	PCDH11Y	83259	ENSG00000099715			Pcdh11x (MGI:2442849)
chrY	6865918	6911752	Yp11	Yp11.2	410000	AMELY, AMGL	Amelogenin (Y chromosome)	AMELY	266	ENSG00000099721	301200 = X homolog		Amelx (MGI:88005)
chrY	6910697	7091683	Yp11.2	Yp11.2	400033	TBL1Y, DFNY2	Transducin-beta-like 1, Y-linked	TBL1Y	90665	ENSG00000092377	mutation identified in 1 DFNY2 family	?Deafness, Y-linked 2, 400047 (3), Y-linked	Tbl1x (MGI:1336172)
chrY	7273972	7381547	Yp11.2	Yp11.2	400008	PRKY	Protein kinase, Y-linked	PRKY	5616	ENSG00000293442			
chrY	9466955	9469749	Ypter-p11.2	Yp11.2	480100	TSPY1, TSPY	Testis-specific protein, Y-linked, 1	TSPY1	7258	ENSG00000258992			
chrY	10400001	26600000	Yq11		400042	DELYq11, CYDELq11, SPGFY1	Chromosome Yq11 interstitial deletion syndrome				contiguous gene deletion syndrome	Spermatogenic failure, Y-linked, 1, 400042 (4), Y-linked	
chrY	10400001	57227415	Yq		425500	HEY	Hairy ears, Y-linked		100188776			?Hairy ears, Y-linked, 425500 (2), Y-linked	
chrY	12701231	12860839	Yq11.2	Yq11.221	400005	USP9Y, DFFRY, SPGFY2	Ubiquitin-specific protease-9, Y chromosome (Drosophila fat facets related, Y-linked)	USP9Y	8287	ENSG00000114374		Spermatogenic failure, Y-linked, 2, 415000 (3), Y-linked	Usp9y (MGI:1313274)
chrY	12903999	12920478	Yq11	Yq11.221	400010	DDX3Y, DBY	DEAD-box helicase 3, Y-linked	DDX3Y	8653	ENSG00000067048			Ddx3y (MGI:1349406)
chrY	13233895	13480670	Yq11	Yq11.221	400009	UTY	Ubiquitously transcribed TPR gene on Y chromosome	UTY	7404	ENSG00000183878			Uty (MGI:894810)
chrY	13703899	13706024	Yq11.221	Yq11.221	400017	TMSB4Y	Thymosin, beta-4, Y chromosome	TMSB4Y	9087	ENSG00000154620			Tmsb4x (MGI:99510)
chrY	13985772	13986473	Yq11.221	Yq11.221	400012	VCY, BPY1	Variably charged, Y chromosome	VCY	9084	ENSG00000129864			
chrY	14056227	14056958	Yq11.221	Yq11.221	400050	VCY1B, BPY1B	Variably charged, Y chromosome, 1B	VCY1B	353513	ENSG00000129862			
chrY	14522616	14845654	Yq11.2	Yq11.221	400028	NLGN4Y, KIAA0951	Neuroligin 4, Y-linked	NLGN4Y	22829	ENSG00000165246			Nlgn4l (MGI:3775191)
chrY	17768980	17770560	Yq11.222	Yq11.222	400015	XKRY	XK-related protein on Y chromosome	XKRY	9082	ENSG00000290724			
chrY	18025787	18027746	Yq11.221	Yq11.222	400018	CDY2	Chromodomain protein, Y chromosome, 2	CDY2A	9426	ENSG00000182415			
chrY	18529643	18588963	Yq11.2	Yq11.222	400029	HSFY	Heat shock transcription factor, Y-linked	HSFY1	86614	ENSG00000172468			Hsfy2 (MGI:1918316)
chrY	19567358	19607170	Yq11.222-q11.223	Yq11.222-q11.223	400031	TXLNGY, CYorf15A, CYorf15B	Taxilin gamma pseudogene, Y-linked	TXLNGY	246126	ENSG00000291033	transcribed pseudogene		
chrY	19703865	19744726	Yq11	Yq11.223	426000	KDM5D, JARID1D, SMCY, HYA	Lysine demethylase 5D	KDM5D	8284	ENSG00000012817	encodes H-Y epitope in mouse		Kdm5d (MGI:99780)
chrY	20575776	20593154	Yq11.223	Yq11.223	400014	EIF1AY	Eukaryotic translation initiation factor 1A, Y isoform	EIF1AY	9086	ENSG00000198692			Eif1ax (MGI:1913485)
chrY	20756108	20781032	Yq11.2	Yq11.223	400030	RPS4Y2	Ribosomal protein S4, Y-linked	RPS4Y2	140032	ENSG00000280969			
chrY	21534879	21559683	Yq11	Yq11.223	400006	RBMY1A1, RBM1, YRRM1, RBM2	RNA binding motif protein, Y chromosome, family 1, member A1	RBMY1A1	5940	ENSG00000234414			
chrY	22071706	22084875	Yq11.2	Yq11.223	400041	PRY2	PTPBL-related gene on Y, 2	PRY2	442862				
chrY	22296798	22298876	Yq11.223	Yq11.223	400038	TTTY5	Testis-specific transcript, Y-linked, 5	TTTY5	83863	ENSG00000215560			
chrY	22439593	22441459	Yq11.223	Yq11.223	400039	TTTY6	Testis-specific transcript, Y-linked, 6	TTTY6	84672				
chrY	22490397	22514637	Yq11.223	Yq11.223	400019	PRY	PTPN13-like, Y-linked	PRY	9081	ENSG00000169789			
chrY	22851584	22852715	Yq11.223	Yq11.223	400040	TTY17	Testis-specific transcript, Y-linked, 17	TTTY17A	252949	ENSG00000228240			
chrY	22936455	22973284	Yq11.223	Yq11.223	400037	TTTY4	Testis-specific transcript, Y-linked, 4	TTTY4	114761	ENSG00000226906			
chrY	22984263	23005465	Yq	Yq11.223	400013	BPY2	Basic protein on Y chromosome, 2	BPY2	9083	ENSG00000183753			
chrY	23129355	23199094	Yq11	Yq11.223	400003	DAZ1	Deleted in azoospermia 1	DAZ1	1617	ENSG00000188120			Dazl (MGI:1342328)
chrY	23219457	23291356	Yq11.2	Yq11.223	400026	DAZ2	Deleted in azoospermia 2	DAZ2	57055	ENSG00000205944			Dazl (MGI:1342328)
chrY	24209967	24214831	Yq11.23	Yq11.23	400035	GOLGA2P2Y, GOLGA2LY	GOLGA2 pseudogene 2, Y-linked	GOLGA2P2Y	84559	ENSG00000291016			
chrY	24763069	24813393	Yq11.2	Yq11.23	400027	DAZ3	Deleted in azoospermia 3	DAZ3	57054	ENSG00000187191			Dazl (MGI:1342328)
chrY	24833820	24907040	Yq11.2	Yq11.23	400048	DAZ4	Deleted in azoospermia 4	DAZ4	57135	ENSG00000205916			Dazl (MGI:1342328)
chrY	25482908	25486705	Yq11.23	Yq11.23	400034	CSPG4P1Y, CSPG4LY	Chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked	CSPG4P1Y	114758	ENSG00000240450			
chrY	25622115	25625511	Yq11.23	Yq11.23	400016	CDY1, CDY	Chromodomain protein, Y chromosome	CDY1	9085	ENSG00000172288			
chrY	25728490	25733388	Yq11.23	Yq11.23	400036	TTTY3	Testis-specific transcript, Y-linked, 3	TTTY3	114760	ENSG00000231141			
chrY	26600001	57227415	Yq12		475000	GCY, TSY, STA	Growth control, Y-chromosome influenced		2656				
chrY	1	57227415	Chr.Y		400043	DFNY1	Deafness, Y-linked 1		724074			Deafness, Y-linked 1, 400043 (2), Y-linked	
chrY	1	57227415	Chr.Y		400004	RPY	Retinitis pigmentosa, Y-linked		79051			Retinitis pigmentosa, Y-linked, 400004 (2), Y-linked	
#
#
#
#
# Source of data in fields are as follows:
# ----------------------------------------
#
# Chromosome (NCBI)
# Genomic position start * (NCBI)
# Genomic position end (NCBI)
# Cyto location (OMIM)
# Computed cyto location (UCSC)
# MIM Number for Gene/Locus (OMIM)
# Gene symbols (OMIM)
# Gene name (OMIM)
# Approved gene symbol (HGNC)
# Entrez gene ID (NCBI)
# Ensembl gene ID (Ensembl)
# Comments (OMIM)
# Phenotype(s) (OMIM)
# Mouse gene symbol & ID (MGI)
#
# * for phenotypes with mapping key of (2) or genes not found in NCBI
# data, genomic coordinates are derived from OMIM's cyto location mapped
# to genomic using UCSC table.
#
#
# OMIM Phenotype field is nested:
# -------------------------------
#
# Each Phenotype is followed by its MIM number, if different from
# that of the locus, preceded by a comma
# Phenotype mapping key in parentheses follows the phenotype MIM
# number (explanation below).
# Allelic disorders are separated by a semi-colon following the
# phenotype mapping key.
# Inheritance for the phenotype follows the phenotype mapping key
# preceded by a ,<space>
# Explanation of the symbols and question marks (?) in the Phenotype
# field is given in OMIM FAQ 1.6)
#
#
# Phenotype Mapping Method - Appears in parentheses after a disorder :
# --------------------------------------------------------------------
#
# 1 - the disorder is placed on the map based on its association with
# a gene, but the underlying defect is not known.
# 2 - the disorder has been placed on the map by linkage; no mutation has
# been found.
# 3 - the molecular basis for the disorder is known; a mutation has been
# found in the gene.
# 4 - a contiguous gene deletion or duplication syndrome, multiple genes
# are deleted or duplicated causing the phenotype.
#
#
# Genomic Coordinates - GRCh38 :
# ------------------------------
#
# The genomic coordinates for the genes are for GRCh38, if you need
# coordinates for for GRCh37, you can get them from this file and use
# the MIM number or the Entrez gene ID to map them:
#
#   https://ftp.ncbi.nlm.nih.gov/genomes/archive/old_refseq/H_sapiens/ARCHIVE/BUILD.37.3/GFF/ref_GRCh37.p5_top_level.gff3.gz
#
# You can also get this script which will handle that for you:
#
#   https://github.com/OMIM-org/hg19-generator
#
#
# Sample code to parse this file :
# --------------------------------
#
# You can find sample code in Python to parse this file here:
#
#   https://github.com/OMIM-org/genemap2-parser
#
