Gene Map Search - 'Diabete (Search in: Entries with: Genemap; Retrieve: gene map)',,,,,,,,,,,,,
Downloaded:,"Nov 10, 2020",,,,,,,,,,,,
"Copyright (c) 1966-2020 Johns Hopkins University OMIM, data are provided for research purposes only.",,,,,,,,,,,,,
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Cytogenetic location,Genomic coordinates (From NCBI/GRCh38),Gene/Locus,Gene/Locus name,Gene/Locus MIM number,Approved Symbol,Entrez Gene ID,Ensembl Gene ID,Comments,Phenotype,Phenotype MIM number,Inheritance,Pheno map key,Mouse Gene (from MGI)
1p36,,"DEL1p36, C1DELp36",Chromosome 1p36 deletion syndrome,607872,,,,contiguous gene deletion syndrome,Chromosome 1p36 deletion syndrome,607872,Isolated cases,4,
1p36.32,1:3069202-3438620,"PRDM16, MEL1, LVNC8, CMD1LL",PR domain-containing protein 16,605557,PRDM16,63976,"ENSG00000142611,ENST00000270722.10",,"Cardiomyopathy, dilated, 1LL",615373,Autosomal dominant,3,Prdm16
1p36.32,1:3069202-3438620,"PRDM16, MEL1, LVNC8, CMD1LL",PR domain-containing protein 16,605557,PRDM16,63976,"ENSG00000142611,ENST00000270722.10",,Left ventricular noncompaction 8,615373,Autosomal dominant,3,Prdm16
1p36.32,1:3652515-3736200,TP73,p53-related protein,601990,TP73,7161,"ENSG00000078900,ENST00000378288.8",imprinted,,,,Trp73,
1p36.22,1:11845708-11847782,"NPPA, PND, ANP, ATFB6, ATRST2",Natriuretic peptide precursor A,108780,NPPA,4878,"ENSG00000175206,ENST00000376480.7",,"Atrial fibrillation, familial, 6",612201,Autosomal dominant,3,Nppa
1p36.22,1:11845708-11847782,"NPPA, PND, ANP, ATFB6, ATRST2",Natriuretic peptide precursor A,108780,NPPA,4878,"ENSG00000175206,ENST00000376480.7",,Atrial standstill 2,615745,Autosomal recessive,3,Nppa
1p36.22,1:12063302-12144212,"TNFRSF8, CD30, D1S166E","Tumor necrosis factor receptor superfamily, member 8 (CD30 antigen; Ki-1 antigen)",153243,TNFRSF8,943,"ENSG00000120949,ENST00000263932.7",,,,,Tnfrsf8,
1p36.21,1:15438441-15449246,"CTRC, CLCR",Chymotrypsin,601405,CTRC,11330,"ENSG00000162438,ENST00000375949.5",,"{Pancreatitis, chronic, susceptibility to}",167800,Autosomal dominant,3,Ctrc
1p36.21,1:15456731-15472090,"CELA2A, ELA2A, AOMS4","Chymotrypsin-like elastase family, member 2A",609443,CELA2A,63036,"ENSG00000142615,ENST00000359621.5",,Abdominal obesity-metabolic syndrome 4,618620,Autosomal dominant,3,Cela2a
1p36.13,1:16022035-16034049,CLCNKA,"Chloride channel, kidney, A",602024,CLCNKA,1187,"ENSG00000186510,ENST00000375692.5",11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB,"Bartter syndrome, type 4b, digenic",613090,Digenic recessive,3,Clcnkb
1p36.13,1:17308194-17364003,"PADI4, PADI5, PAD","Peptidylarginine deiminase, type IV",605347,PADI4,23569,"ENSG00000159339,ENST00000375448.4",,"{Rheumatoid arthritis, susceptibility to}",180300,,3,Padi4
1p36.12,1:20651776-20661368,"DDOST, OST, OST48, CDG1R",Dolichyl-diphosphooligosaccharide-protein glycosyltransferase,602202,DDOST,1650,"ENSG00000244038,ENST00000602624.6",mutation (cmpd het) identified in 1 CDG1R patient,"?Congenital disorder of glycosylation, type Ir",614507,Autosomal recessive,3,Ddost
1p36.12,1:21217249-21345503,ECE1,Endothelin converting enzyme 1,600423,ECE1,1889,"ENSG00000117298,ENST00000357071.8",mutation identified in 1 HCAD patient,"?Hirschsprung disease, cardiac defects, and autonomic dysfunction",613870,Autosomal dominant,3,Ece1
1p36.12,1:21217249-21345503,ECE1,Endothelin converting enzyme 1,600423,ECE1,1889,"ENSG00000117298,ENST00000357071.8",mutation identified in 1 HCAD patient,"{Hypertension, essential, susceptibility to}",145500,Multifactorial,3,Ece1
1p36.12,1:21977021-21989353,CELA3B,Chymotrypsin-like elastase 3A,618694,CELA3B,23436,"ENSG00000219073,ENST00000337107.11",distal to CELA3A,,,,Cela3b,
1p36.12,1:23505695-23531249,E2F2,E2F transcription factor 2,600426,E2F2,1870,"ENSG00000007968,ENST00000361729.3",,,,,E2f2,
1p36.11,1:25800192-25818220,"SELENON, SEPN1, SELN, RSMD1, CFTD",Selenoprotein N,606210,SELENON,57190,"ENSG00000162430,ENST00000361547.7",,"Muscular dystrophy, rigid spine, 1",602771,Autosomal recessive,3,Selenon
1p36.11,1:25800192-25818220,"SELENON, SEPN1, SELN, RSMD1, CFTD",Selenoprotein N,606210,SELENON,57190,"ENSG00000162430,ENST00000361547.7",,"Myopathy, congenital, with fiber-type disproportion",255310,Autosomal dominant; Autosomal recessive,3,Selenon
1p36.11,1:26911488-26914109,"NR0B2, SHP","Nuclear receptor subfamily 0, group B, member 2",604630,NR0B2,8431,"ENSG00000131910,ENST00000254227.4",,"Obesity, mild, early-onset",601665,Autosomal dominant; Autosomal recessive; Multifactorial,3,Nr0b2
1p35.2,1:30869465-30909734,"SDC3, SYND3, SDCN",Syndecan 3,186357,SDC3,9672,"ENSG00000162512,ENST00000339394.7",,"{Obesity, association with}",601665,Autosomal dominant; Autosomal recessive; Multifactorial,3,Sdc3
1p35.2,1:32200594-32205386,"CCDC28B, MGC1203",Coiled-coil domain-containing protein 28B,610162,CCDC28B,79140,"ENSG00000160050,ENST00000421922.6",,"{Bardet-Biedl syndrome 1, modifier of}",209900,Autosomal recessive; Digenic recessive,3,Ccdc28b
1p34.3,1:34792957-34795746,"GJA4, CX37","Gap junction protein, alpha-4, 37kD (connexin 37)",121012,GJA4,2701,"ENSG00000187513,ENST00000342280.5",,,,,Gja4,
1p34.2,1:39838109-39883510,"TRIT1, IPT, COXPD35",tRNA isopentenyltransferase 1,617840,TRIT1,54802,"ENSG00000043514,ENST00000372818.5",,Combined oxidative phosphorylation deficiency 35,617873,Autosomal recessive,3,Trit1
1p34.2,1:40258077-40294179,"ZMPSTE24, FACE1, STE24, MADB",Zinc metalloproteinase STE24,606480,ZMPSTE24,10269,"ENSG00000084073,ENST00000372759.4",,Mandibuloacral dysplasia with type B lipodystrophy,608612,Autosomal recessive,3,Zmpste24
1p34.2,1:40258077-40294179,"ZMPSTE24, FACE1, STE24, MADB",Zinc metalloproteinase STE24,606480,ZMPSTE24,10269,"ENSG00000084073,ENST00000372759.4",,"Restrictive dermopathy, lethal",275210,Autosomal recessive,3,Zmpste24
1p34.2,1:40477219-40496342,"ZFP69, ZNF642",Zinc finger protein 69,617939,ZFP69,339559,"ENSG00000187815,ENST00000372706.6",,,,,Zfp69,
1p34.2,1:42682417-42703804,"YBX1, NSEP1, YB1, DBPB","Y box binding protein 1 (major histocompatibility complex, class II, Y box-binding protein I)",154030,YBX1,4904,"ENSG00000065978,ENST00000321358.12",,,,,Ybx1,
1p34.2,1:42925352-42958867,"SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN","Solute carrier family 2 (facilitated glucose transporter), member 1",138140,SLC2A1,6513,"ENSG00000117394,ENST00000426263.9",probably in 1p33,"{Epilepsy, idiopathic generalized, susceptibility to, 12}",614847,Autosomal dominant,3,Slc2a1
1p34.2,1:42925352-42958867,"SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN","Solute carrier family 2 (facilitated glucose transporter), member 1",138140,SLC2A1,6513,"ENSG00000117394,ENST00000426263.9",probably in 1p33,Dystonia 9,601042,Autosomal dominant,3,Slc2a1
1p34.2,1:42925352-42958867,"SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN","Solute carrier family 2 (facilitated glucose transporter), member 1",138140,SLC2A1,6513,"ENSG00000117394,ENST00000426263.9",probably in 1p33,"GLUT1 deficiency syndrome 1, infantile onset, severe",606777,Autosomal dominant; Autosomal recessive,3,Slc2a1
1p34.2,1:42925352-42958867,"SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN","Solute carrier family 2 (facilitated glucose transporter), member 1",138140,SLC2A1,6513,"ENSG00000117394,ENST00000426263.9",probably in 1p33,"GLUT1 deficiency syndrome 2, childhood onset",612126,Autosomal dominant,3,Slc2a1
1p34.2,1:42925352-42958867,"SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN","Solute carrier family 2 (facilitated glucose transporter), member 1",138140,SLC2A1,6513,"ENSG00000117394,ENST00000426263.9",probably in 1p33,Stomatin-deficient cryohydrocytosis with neurologic defects,608885,Autosomal dominant,3,Slc2a1
1p33,1:46929176-46941475,CYP4A11,"Cytochrome P450, subfamily IVA, polypeptide 11",601310,CYP4A11,1579,"ENSG00000187048,ENST00000310638.9",,,,,"Cyp4a10,Cyp4a32,Cyp4a31",
1p31,1:60800000-84400000,AIR,Acute insulin response,601676,,7808,,,Acute insulin response,601676,,2,
1p31,1:60800000-84400000,PAOD1,Peripheral arterial occlusive disease 1,606787,,171513,,,Peripheral arterial occlusive disease 1,606787,,2,
1p31.3,1:62597519-62606312,"ANGPTL3, ANGPT5, FHBL2",Angiopoietin-like 3,604774,ANGPTL3,27329,"ENSG00000132855,ENST00000371129.4",,"Hypobetalipoproteinemia, familial, 2",605019,Autosomal recessive,3,Angptl3
1p31.3,1:65420651-65641558,"LEPR, OBR, LEPRD",Leptin receptor,601007,LEPR,3953,"ENSG00000116678,ENST00000371060.7",,"Obesity, morbid, due to leptin receptor deficiency",614963,Autosomal recessive,3,Lepr
1p31.3,1:65420667-65436006,"LEPROT, OBRGRP",Leptin receptor overlapping transcript,613461,LEPROT,54741,"ENSG00000213625,ENST00000613538.1",transcribed in same direction as LEPR,,,,Leprot,
1p31.3,1:66533360-66751138,SGIP1,SH3-domain GRB2-like (endophilin)-interacting protein 1,611540,SGIP1,84251,"ENSG00000118473,ENST00000371039.5",,,,,Sgip1,
1p31.1,1:75724708-75763678,"ACADM, MCAD","Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain",607008,ACADM,34,"ENSG00000117054,ENST00000370841.8",,"Acyl-CoA dehydrogenase, medium chain, deficiency of",201450,Autosomal recessive,3,Acadm
1p22,1:84400000-94300000,UOX,"Urate oxidase, pseudogene",191540,UOX,391051,,nonsense mutations responsible for absence of enzyme in man and hominoid primates,[Urate oxidase deficiency],,,1,
1p13.3,1:110059869-110070671,"ALX3, FND1",Aristaless-like homeobox 3,606014,ALX3,257,"ENSG00000156150,ENST00000647563.2",,Frontonasal dysplasia 1,136760,Autosomal recessive,3,Alx3
1p13.2,1:112911846-112956195,"SLC16A1, MCT1, HHF7, MCT1D","Solute carrier family 16 (monocarboxylic acid transporters), member 1",600682,SLC16A1,6566,"ENSG00000155380,ENST00000538576.5",,Erythrocyte lactate transporter defect,245340,Autosomal dominant,3,Slc16a1
1p13.2,1:112911846-112956195,"SLC16A1, MCT1, HHF7, MCT1D","Solute carrier family 16 (monocarboxylic acid transporters), member 1",600682,SLC16A1,6566,"ENSG00000155380,ENST00000538576.5",,"Hyperinsulinemic hypoglycemia, familial, 7",610021,Autosomal dominant,3,Slc16a1
1p13.2,1:112911846-112956195,"SLC16A1, MCT1, HHF7, MCT1D","Solute carrier family 16 (monocarboxylic acid transporters), member 1",600682,SLC16A1,6566,"ENSG00000155380,ENST00000538576.5",,Monocarboxylate transporter 1 deficiency,616095,Autosomal dominant; Autosomal recessive,3,Slc16a1
1p13.2,1:113813810-113871760,"PTPN22, PEP, PTPN8, LYP","Protein tyrosine phosphatase, nonreceptor-type 22",600716,PTPN22,26191,"ENSG00000134242,ENST00000538253.5",,"{Diabetes, type 1, susceptibility to}",222100,Autosomal recessive,3,Ptpn22
1p13.2,1:113813810-113871760,"PTPN22, PEP, PTPN8, LYP","Protein tyrosine phosphatase, nonreceptor-type 22",600716,PTPN22,26191,"ENSG00000134242,ENST00000538253.5",,"{Rheumatoid arthritis, susceptibility to}",180300,,3,Ptpn22
1p13.2,1:113813810-113871760,"PTPN22, PEP, PTPN8, LYP","Protein tyrosine phosphatase, nonreceptor-type 22",600716,PTPN22,26191,"ENSG00000134242,ENST00000538253.5",,{Systemic lupus erythematosus susceptibility to},152700,Autosomal dominant,3,Ptpn22
1p13.1,1:115641969-115698220,"VANGL1, STBM2",Vang-like 1,610132,VANGL1,81839,"ENSG00000173218,ENST00000369510.8",,"{Neural tube defects, susceptibility to}",182940,Autosomal dominant,3,Vangl1
1p13.1,1:115641969-115698220,"VANGL1, STBM2",Vang-like 1,610132,VANGL1,81839,"ENSG00000173218,ENST00000369510.8",,Caudal regression syndrome,600145,Autosomal dominant,3,Vangl1
1p12,1:119911552-120069661,"NOTCH2, AGS2, HJCYS",Notch receptor 2,600275,NOTCH2,4853,"ENSG00000134250,ENST00000256646.7",,Alagille syndrome 2,610205,Autosomal dominant,3,Notch2
1p12,1:119911552-120069661,"NOTCH2, AGS2, HJCYS",Notch receptor 2,600275,NOTCH2,4853,"ENSG00000134250,ENST00000256646.7",,Hajdu-Cheney syndrome,102500,Autosomal dominant,3,Notch2
1q21.1,1:146017469-146021734,"HJV, HFE2A",Hemojuvelin,608374,HJV,148738,"ENSG00000168509,ENST00000357836.5",between D1S442 and D1S2347,"Hemochromatosis, type 2A",602390,Autosomal recessive,3,Hjv
1q21.3,1:153947674-153958642,"CRTC2, TORC2",CREB-regulated transcription coactivator 2,608972,CRTC2,200186,"ENSG00000160741,ENST00000368633.2",,,,,Crtc2,
1q21.3,1:154155307-154192099,"TPM3, NEM1, CFTD, CAPM1",Tropomyosin 3,191030,TPM3,7170,"ENSG00000143549,ENST00000330188.13",TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd,CAP myopathy 1,609284,Autosomal dominant; Autosomal recessive,3,Tpm3
1q21.3,1:154155307-154192099,"TPM3, NEM1, CFTD, CAPM1",Tropomyosin 3,191030,TPM3,7170,"ENSG00000143549,ENST00000330188.13",TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd,"Myopathy, congenital, with fiber-type disproportion",255310,Autosomal dominant; Autosomal recessive,3,Tpm3
1q21.3,1:154155307-154192099,"TPM3, NEM1, CFTD, CAPM1",Tropomyosin 3,191030,TPM3,7170,"ENSG00000143549,ENST00000330188.13",TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd,"Nemaline myopathy 1, autosomal dominant or recessive",609284,Autosomal dominant; Autosomal recessive,3,Tpm3
1q21.3,1:154405342-154469449,"IL6R, IL6RQ, IL6QTL, HIES5",Interleukin-6 receptor,147880,IL6R,3570,"ENSG00000160712,ENST00000368485.8",IL6R-like gene on chr.9,"[Interleukin 6, serum level of, QTL]",614752,,3,Il6ra
1q21.3,1:154405342-154469449,"IL6R, IL6RQ, IL6QTL, HIES5",Interleukin-6 receptor,147880,IL6R,3570,"ENSG00000160712,ENST00000368485.8",IL6R-like gene on chr.9,"[Interleukin-6 receptor, soluble, serum level of, QTL]",614689,,3,Il6ra
1q21.3,1:154405342-154469449,"IL6R, IL6RQ, IL6QTL, HIES5",Interleukin-6 receptor,147880,IL6R,3570,"ENSG00000160712,ENST00000368485.8",IL6R-like gene on chr.9,"Hyper-IgE recurrent infection syndrome 5, autosomal recessive",618944,Autosomal recessive,3,Il6ra
1q21.3,1:154962297-154974491,SHC1,SHC (Src homology 2 domain-containing) transforming protein-1,600560,SHC1,6464,"ENSG00000160691,ENST00000448116.6",,,,,Shc1,
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,"Cardiomyopathy, dilated, 1A",115200,Autosomal dominant,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,"Charcot-Marie-Tooth disease, type 2B1",605588,Autosomal recessive,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,"Emery-Dreifuss muscular dystrophy 2, autosomal dominant",181350,Autosomal dominant,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,"Emery-Dreifuss muscular dystrophy 3, autosomal recessive",616516,Autosomal recessive,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,"Heart-hand syndrome, Slovenian type",610140,Autosomal dominant,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,Hutchinson-Gilford progeria,176670,Autosomal dominant; Autosomal recessive,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,"Lipodystrophy, familial partial, type 2",151660,Autosomal dominant,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,Malouf syndrome,212112,Autosomal dominant,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,Mandibuloacral dysplasia,248370,Autosomal recessive,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,"Muscular dystrophy, congenital",613205,Autosomal dominant,3,Lmna
1q22,1:156082572-156140080,"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS",Lamin A/C,150330,LMNA,4000,"ENSG00000160789,ENST00000448611.6",,"Restrictive dermopathy, lethal",275210,Autosomal recessive,3,Lmna
1q22,1:156242183-156243316,BGLAP,Bone gamma-carboxyglutamic acid protein,112260,BGLAP,632,"ENSG00000242252,ENST00000368272.5",,,,,"Bglap3,Bglap2,Bglap",
1q23.1,1:158178029-158186426,CD1D,Thymocyte antigen CD1D,188410,CD1D,912,"ENSG00000158473,ENST00000673623.1",,,,,Cd1d1,
1q23.2,1:159587825-159588864,"APCS, SAP","Amyloid P component, serum",104770,APCS,325,"ENSG00000132703,ENST00000255040.3",probably close to CRP,"{?Amyloidosis, secondary, susceptibility to}",,,1,Apcs
1q23.2,1:159712288-159714588,CRP,C-reactive protein,123260,CRP,1401,"ENSG00000132693,ENST00000255030.9",,,,,Crp,
1q23.2,1:160205383-160215375,"PEA15, HMAT1, PED","Phosphoprotein enriched in astrocytes, 15kD",603434,PEA15,8682,"ENSG00000162734,ENST00000368076.1",,,,,Pea15a,
1q23.2,1:160343327-160358948,NCSTN,Nicastrin,605254,NCSTN,23385,"ENSG00000162736,ENST00000294785.10",,"Acne inversa, familial, 1",142690,Autosomal dominant,3,Ncstn
1q23.3,1:160830159-160862891,"CD244, NAIL, NKR2B4, SLAMF4",CD244 antigen,605554,CD244,51744,"ENSG00000122223,ENST00000368033.7",,"{Rheumatoid arthritis, susceptibility to}",180300,,3,Cd244a
1q23.3,1:161039250-161045976,"USF1, HYPLIP1",Upstream transcription factor 1,191523,USF1,7391,"ENSG00000158773,ENST00000368020.5",,"{Hyperlipidemia, familial combined, susceptibility to}",602491,,3,Usf1
1q23.3,1:161303593-161309968,"MPZ, CMT1B, CMTDID, DSS, CHN2",Myelin protein zero,159440,MPZ,4359,"ENSG00000158887,ENST00000533357.5",,"Charcot-Marie-Tooth disease, dominant intermediate D",607791,Autosomal dominant,3,Mpz
1q23.3,1:161303593-161309968,"MPZ, CMT1B, CMTDID, DSS, CHN2",Myelin protein zero,159440,MPZ,4359,"ENSG00000158887,ENST00000533357.5",,"Charcot-Marie-Tooth disease, type 1B",118200,Autosomal dominant,3,Mpz
1q23.3,1:161303593-161309968,"MPZ, CMT1B, CMTDID, DSS, CHN2",Myelin protein zero,159440,MPZ,4359,"ENSG00000158887,ENST00000533357.5",,"Charcot-Marie-Tooth disease, type 2I",607677,Autosomal dominant,3,Mpz
1q23.3,1:161303593-161309968,"MPZ, CMT1B, CMTDID, DSS, CHN2",Myelin protein zero,159440,MPZ,4359,"ENSG00000158887,ENST00000533357.5",,"Charcot-Marie-Tooth disease, type 2J",607736,Autosomal dominant,3,Mpz
1q23.3,1:161303593-161309968,"MPZ, CMT1B, CMTDID, DSS, CHN2",Myelin protein zero,159440,MPZ,4359,"ENSG00000158887,ENST00000533357.5",,Dejerine-Sottas disease,145900,Autosomal dominant; Autosomal recessive,3,Mpz
1q23.3,1:161303593-161309968,"MPZ, CMT1B, CMTDID, DSS, CHN2",Myelin protein zero,159440,MPZ,4359,"ENSG00000158887,ENST00000533357.5",,"Hypomyelinating neuropathy, congenital, 2",618184,Autosomal dominant,3,Mpz
1q23.3,1:161303593-161309968,"MPZ, CMT1B, CMTDID, DSS, CHN2",Myelin protein zero,159440,MPZ,4359,"ENSG00000158887,ENST00000533357.5",,Roussy-Levy syndrome,180800,Autosomal dominant,3,Mpz
1q23.3,1:161766319-161964069,"ATF6, ACHM7",Activating transcription factor-6,605537,ATF6,22926,"ENSG00000118217,ENST00000367942.4",,Achromatopsia 7,616517,Autosomal recessive,3,Atf6
1q23.3,1:163142298-163321734,RGS5,Regulator of G protein signaling-5,603276,RGS5,8490,"ENSG00000143248,ENST00000527988.1",,[Blood pressure regulation QTL],145500,Multifactorial,2,Rgs5
1q23.3,1:164559183-164886046,"PBX1, CAKUHED",Pre-B cell leukemia transcription factor-1,176310,PBX1,5087,"ENSG00000185630,ENST00000367897.5",pseudogene PBXP1 on chr.3,"Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",617641,Autosomal dominant,3,Pbx1
1q24.1,1:165631233-165656135,MGST3,"Glutatione S-transferase, microsomal, 3",604564,MGST3,4259,"ENSG00000143198,ENST00000367889.8",,,,,Mgst3,
1q24.1,1:166908186-166975539,ILDR2,Immunoglobulin-like domain-containing receptor 2,618081,ILDR2,387597,"ENSG00000143195,ENST00000271417.8",,,,,Ildr2,
1q24.2,1:168079541-168137666,GPR161,G protein-coupled receptor 161,612250,GPR161,23432,"ENSG00000143147,ENST00000537209.5",,,,,Gpr161,
1q24.2,1:169106689-169132718,ATP1B1,"ATPase, Na+K+ transporting, beta-1 polypeptide",182330,ATP1B1,481,"ENSG00000143153,ENST00000367815.9",,[Blood pressure regulation QTL],145500,Multifactorial,2,Atp1b1
1q24.2,1:169463908-169485969,"SLC19A2, THTR1, TRMA, THMD1","Solute carrier family 19 (thiamine transporter), member 2",603941,SLC19A2,10560,"ENSG00000117479,ENST00000367804.4",,Thiamine-responsive megaloblastic anemia syndrome,249270,Autosomal recessive,3,Slc19a2
1q24.2,1:169511950-169586629,"F5, THPH2, RPRGL1","Coagulation factor V (proaccelerin, labile factor)",612309,F5,2153,"ENSG00000198734,ENST00000367797.9",Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment,{Budd-Chiari syndrome},600880,Autosomal recessive,3,F5
1q24.2,1:169511950-169586629,"F5, THPH2, RPRGL1","Coagulation factor V (proaccelerin, labile factor)",612309,F5,2153,"ENSG00000198734,ENST00000367797.9",Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment,"{Pregnancy loss, recurrent, susceptibility to, 1}",614389,Autosomal dominant,3,F5
1q24.2,1:169511950-169586629,"F5, THPH2, RPRGL1","Coagulation factor V (proaccelerin, labile factor)",612309,F5,2153,"ENSG00000198734,ENST00000367797.9",Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment,"{Stroke, ischemic, susceptibility to}",601367,Multifactorial,3,F5
1q24.2,1:169511950-169586629,"F5, THPH2, RPRGL1","Coagulation factor V (proaccelerin, labile factor)",612309,F5,2153,"ENSG00000198734,ENST00000367797.9",Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment,"{Thrombophilia, susceptibility to, due to factor V Leiden}",188055,Autosomal dominant,3,F5
1q24.2,1:169511950-169586629,"F5, THPH2, RPRGL1","Coagulation factor V (proaccelerin, labile factor)",612309,F5,2153,"ENSG00000198734,ENST00000367797.9",Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment,Factor V deficiency,227400,Autosomal recessive,3,F5
1q24.2,1:169511950-169586629,"F5, THPH2, RPRGL1","Coagulation factor V (proaccelerin, labile factor)",612309,F5,2153,"ENSG00000198734,ENST00000367797.9",Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment,Thrombophilia due to activated protein C resistance,188055,Autosomal dominant,3,F5
1q24.2,1:169588848-169630124,"SELP, GRMP","Selectin P (granulocyte membrane protein, 140kD; antigen CD62)",173610,SELP,6403,"ENSG00000174175,ENST00000263686.11","in same 300kb segment as LYAM1, ELAM1",,,,Selp,
1q24.2,1:169722639-169734078,"SELE, ELAM1",Selectin E (endothelial leukocyte adhesion molecule-1),131210,SELE,6401,"ENSG00000007908,ENST00000333360.12",,,,,Sele,
1q25.1,1:173931083-174022356,"RC3H1, KIAA2025, IMDSHY",Roquin,609424,RC3H1,149041,"ENSG00000135870,ENST00000367694.2",mutation identified in 1 IMDSHY patient,?Immune dysregulation and systemic hyperinflammation syndrome,618998,,3,Rc3h1
1q25.3-q31.1,1:185734390-186190948,"HMCN1, FBLN6, FIBL6, ARMD1",Hemicentin (fibulin 6),608548,HMCN1,83872,"ENSG00000143341,ENST00000271588.9",,"{Macular degeneration, age-related, 1}",603075,Autosomal dominant,3,Hmcn1
1q31.3,1:196774815-196795406,"CFHR3, FHR3, HLF4, CFHL3",Complement factor H-related 3,605336,CFHR3,10878,"ENSG00000116785,ENST00000391985.7",,"{Hemolytic uremic syndrome, atypical, susceptibility to}",235400,Autosomal dominant; Autosomal recessive,3,
1q31.3,1:196774815-196795406,"CFHR3, FHR3, HLF4, CFHL3",Complement factor H-related 3,605336,CFHR3,10878,"ENSG00000116785,ENST00000391985.7",,"{Macular degeneration, age-related, reduced risk of}",603075,Autosomal dominant,3,
1q31.3,1:196819730-196832188,"CFHR1, FHR1, HFL1, CFHL1",Complement factor H-related 1,134371,CFHR1,3078,"ENSG00000244414,ENST00000320493.9",,"{Hemolytic uremic syndrome, atypical, susceptibility to}",235400,Autosomal dominant; Autosomal recessive,3,Cfhr1
1q31.3,1:196819730-196832188,"CFHR1, FHR1, HFL1, CFHL1",Complement factor H-related 1,134371,CFHR1,3078,"ENSG00000244414,ENST00000320493.9",,"{Macular degeneration, age-related, reduced risk of}",603075,Autosomal dominant,3,Cfhr1
1q31.3-q32.1,1:198639024-198757475,"PTPRC, CD45, LCA","Protein tyrosine phosphatase, receptor type, c polypeptide",151460,PTPRC,5788,"ENSG00000081237,ENST00000413409.6",,"{Hepatitis C virus, susceptibility to}",609532,,3,Ptprc
1q31.3-q32.1,1:198639024-198757475,"PTPRC, CD45, LCA","Protein tyrosine phosphatase, receptor type, c polypeptide",151460,PTPRC,5788,"ENSG00000081237,ENST00000413409.6",,"Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive",608971,Autosomal recessive,3,Ptprc
1q32.1,1:202940824-202958571,"ADIPOR1, CGI45",Adiponectin receptor 1,607945,ADIPOR1,51094,"ENSG00000159346,ENST00000340990.10",,,,,Adipor1,
1q32.1,1:204073095-204127742,"SOX13, ICA12",SRY-box 13,604748,SOX13,9580,"ENSG00000143842,ENST00000367204.6",,,,,Sox13,
1q32.1,1:204398683-204412453,"PPP1R15B, CREP, MSSGM2","Protein phosphatase 1, regulatory subunit 15B",613257,PPP1R15B,84919,"ENSG00000158615,ENST00000367188.5",,"Microcephaly, short stature, and impaired glucose metabolism 2",616817,Autosomal recessive,3,Ppp1r15b
1q32.1,1:206106935-206117387,"AVPR1B, AVPR3",Arginine vasopressin receptor-1B,600264,AVPR1B,553,"ENSG00000198049,ENST00000367126.5",,,,,Avpr1b,
1q32.1,1:206767601-206772493,"IL10, CSIF, GVHDS",Interleukin-10,124092,IL10,3586,"ENSG00000136634,ENST00000423557.1",,"{Graft-versus-host disease, protection against}",614395,,3,Il10
1q32.1,1:206767601-206772493,"IL10, CSIF, GVHDS",Interleukin-10,124092,IL10,3586,"ENSG00000136634,ENST00000423557.1",,"{HIV-1, susceptibility to}",609423,,3,Il10
1q32.1,1:206767601-206772493,"IL10, CSIF, GVHDS",Interleukin-10,124092,IL10,3586,"ENSG00000136634,ENST00000423557.1",,"{Rheumatoid arthritis, progression of}",180300,,3,Il10
1q32.2,1:209686178-209734928,"HSD11B1, HSD11, HSD11L, CORTRD2","Hydroxysteroid, 11-beta, dehydrogenase 1",600713,HSD11B1,3290,"ENSG00000117594,ENST00000367028.6",digenic triallelic mutations with H6PD,Cortisone reductase deficiency 2,614662,Autosomal dominant,3,Hsd11b1
1q32.2,1:210678313-211134147,"KCNH1, EAG, TMBTS, ZLS1","Potassium voltage-gated channel, subfamily H, member 1 (ether-a-go-go, drosophila, homolog of)",603305,KCNH1,3756,"ENSG00000143473,ENST00000639952.1",,Temple-Baraitser syndrome,611816,Autosomal dominant,3,Kcnh1
1q32.2,1:210678313-211134147,"KCNH1, EAG, TMBTS, ZLS1","Potassium voltage-gated channel, subfamily H, member 1 (ether-a-go-go, drosophila, homolog of)",603305,KCNH1,3756,"ENSG00000143473,ENST00000639952.1",,Zimmermann-Laband syndrome 1,135500,Autosomal dominant,3,Kcnh1
1q42.12,1:226360690-226408092,"PARP1, ADPRT, PPOL, PARP",Poly(ADP-ribose) polymerase 1,173870,PARP1,142,"ENSG00000143799,ENST00000366794.10",?processed pseudogenes on chr.13 and 14,,,,Parp1,
1q42.13,1:226939338-226987543,"ADCK3, COQ8, CABC1, SCAR9, ARCA2, COQ10D4",AARF domain-containing kinase 3,606980,COQ8A,56997,"ENSG00000163050,ENST00000366777.4",,"Coenzyme Q10 deficiency, primary, 4",612016,Autosomal recessive,3,Coq8a
1q42.13,1:229431244-229434093,"ACTA1, ASMA, NEM3, CFTD1, SHPM","Actin, alpha-1, skeletal muscle",102610,ACTA1,58,"ENSG00000143632,ENST00000366684.7",mutation identified in 1 SHPM family,"?Myopathy, scapulohumeroperoneal",616852,Autosomal dominant,3,Acta1
1q42.13,1:229431244-229434093,"ACTA1, ASMA, NEM3, CFTD1, SHPM","Actin, alpha-1, skeletal muscle",102610,ACTA1,58,"ENSG00000143632,ENST00000366684.7",mutation identified in 1 SHPM family,"Myopathy, actin, congenital, with cores",161800,Autosomal dominant; Autosomal recessive,3,Acta1
1q42.13,1:229431244-229434093,"ACTA1, ASMA, NEM3, CFTD1, SHPM","Actin, alpha-1, skeletal muscle",102610,ACTA1,58,"ENSG00000143632,ENST00000366684.7",mutation identified in 1 SHPM family,"Myopathy, actin, congenital, with excess of thin myofilaments",161800,Autosomal dominant; Autosomal recessive,3,Acta1
1q42.13,1:229431244-229434093,"ACTA1, ASMA, NEM3, CFTD1, SHPM","Actin, alpha-1, skeletal muscle",102610,ACTA1,58,"ENSG00000143632,ENST00000366684.7",mutation identified in 1 SHPM family,"Myopathy, congenital, with fiber-type disproportion 1",255310,Autosomal dominant; Autosomal recessive,3,Acta1
1q42.13,1:229431244-229434093,"ACTA1, ASMA, NEM3, CFTD1, SHPM","Actin, alpha-1, skeletal muscle",102610,ACTA1,58,"ENSG00000143632,ENST00000366684.7",mutation identified in 1 SHPM family,"Nemaline myopathy 3, autosomal dominant or recessive",161800,Autosomal dominant; Autosomal recessive,3,Acta1
1q42.2,1:230702522-230745582,"AGT, SERPINA8",Angiotensinogen,106150,AGT,183,"ENSG00000135744,ENST00000366667.5",,"{Hypertension, essential, susceptibility to}",145500,Multifactorial,3,Agt
1q42.2,1:230702522-230745582,"AGT, SERPINA8",Angiotensinogen,106150,AGT,183,"ENSG00000135744,ENST00000366667.5",,"{Preeclampsia, susceptibility to}",,,3,Agt
1q42.2,1:230702522-230745582,"AGT, SERPINA8",Angiotensinogen,106150,AGT,183,"ENSG00000135744,ENST00000366667.5",,Renal tubular dysgenesis,267430,Autosomal recessive,3,Agt
1q42.2,1:230979081-231000732,"ARV1, DEE38","ARV1 homolog, fatty acid homeostasis modulator",611647,ARV1,64801,"ENSG00000173409,ENST00000435927.5",,Developmental and epileptic encephalopathy 38,617020,Autosomal recessive,3,Arv1
1q42.3,1:234604268-234610177,"IRF2BP2, CVID14",Interferon regulatory factor 2-binding protein 2,615332,IRF2BP2,359948,"ENSG00000168264,ENST00000366610.7",mutation identified in 1 CVID14 family,"?Immunodeficiency, common variable, 14",617765,Autosomal dominant,3,Irf2bp2
1q44,1:247416162-247448822,"NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH","NLR family, pyrin domain containing 3",606416,NLRP3,114548,"ENSG00000162711,ENST00000391828.7",,CINCA syndrome,607115,Autosomal dominant,3,Nlrp3
1q44,1:247416162-247448822,"NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH","NLR family, pyrin domain containing 3",606416,NLRP3,114548,"ENSG00000162711,ENST00000391828.7",,"Deafness, autosomal dominant 34, with or without inflammation",617772,Autosomal dominant,3,Nlrp3
1q44,1:247416162-247448822,"NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH","NLR family, pyrin domain containing 3",606416,NLRP3,114548,"ENSG00000162711,ENST00000391828.7",,Familial cold inflammatory syndrome 1,120100,Autosomal dominant,3,Nlrp3
1q44,1:247416162-247448822,"NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH","NLR family, pyrin domain containing 3",606416,NLRP3,114548,"ENSG00000162711,ENST00000391828.7",,Keratoendothelitis fugax hereditaria,148200,Autosomal dominant,3,Nlrp3
1q44,1:247416162-247448822,"NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH","NLR family, pyrin domain containing 3",606416,NLRP3,114548,"ENSG00000162711,ENST00000391828.7",,Muckle-Wells syndrome,191900,Autosomal dominant,3,Nlrp3
2p25-p24,,HYT3,"Hypertension, essential, susceptibility to, 3",607329,,387575,,,"{Hypertension, essential, susceptibility to, 3}",145500,Multifactorial,2,
2p25.1,2:10043549-10054835,"KLF11, TIEG2, FKLF1, FKLF, MODY7",Kruppel-like factor 11,603301,KLF11,8462,"ENSG00000172059,ENST00000540845.5",,"Maturity-onset diabetes of the young, type VII",610508,,3,Klf11
2p25.1,2:11677543-11827408,LPIN1,Lipin 1,605518,LPIN1,23175,"ENSG00000134324,ENST00000425416.6",related to LSL,"Myoglobinuria, acute recurrent, autosomal recessive",268200,Autosomal recessive,3,Lpin1
2p23.3,2:24819168-24920236,"ADCY3, BMIQ19",Adenylate cyclase-3,600291,ADCY3,109,"ENSG00000138031,ENST00000405392.5",,"{Obesity, susceptibility to, BMIQ19}",617885,Autosomal recessive,3,Adcy3
2p23.3,2:25160859-25168579,"POMC, OBAIRH",Proopiomelanocortin (adrenocorticotropin/beta-lipotropin),176830,POMC,5443,"ENSG00000115138,ENST00000395826.7",,"{Obesity, early-onset, susceptibility to}",601665,Autosomal dominant; Autosomal recessive; Multifactorial,3,Pomc
2p23.3,2:25160859-25168579,"POMC, OBAIRH",Proopiomelanocortin (adrenocorticotropin/beta-lipotropin),176830,POMC,5443,"ENSG00000115138,ENST00000395826.7",,"Obesity, adrenal insufficiency, and red hair due to POMC deficiency",609734,Autosomal recessive,3,Pomc
2p23.3,2:25227873-25342589,"DNMT3A, TBRS, HESJAS",DNA methyltransferase 3A,602769,DNMT3A,1788,"ENSG00000119772,ENST00000402667.1",,"Acute myeloid leukemia, somatic",601626,,3,Dnmt3a
2p23.3,2:25227873-25342589,"DNMT3A, TBRS, HESJAS",DNA methyltransferase 3A,602769,DNMT3A,1788,"ENSG00000119772,ENST00000402667.1",,Heyn-Sproul-Jackson syndrome,618724,Autosomal dominant,3,Dnmt3a
2p23.3,2:25227873-25342589,"DNMT3A, TBRS, HESJAS",DNA methyltransferase 3A,602769,DNMT3A,1788,"ENSG00000119772,ENST00000402667.1",,Tatton-Brown-Rahman syndrome,615879,Autosomal dominant,3,Dnmt3a
2p23.3,2:27086759-27100761,KHK,Ketohexokinase (fructokinase),614058,KHK,3795,"ENSG00000138030,ENST00000260599.10",,[Fructosuria],229800,Autosomal recessive,3,Khk
2p23.3,2:27307399-27308444,"UCN, UROC",Urocortin,600945,UCN,7349,"ENSG00000163794,ENST00000296099.2",,,,,Ucn,
2p23.3,2:27496838-27523688,"GCKR, GKRP, FGQTL5",Glucokinase (hexokinase 4) regulatory protein,600842,GCKR,2646,"ENSG00000084734,ENST00000264717.7",,[Fasting plasma glucose level QTL 5],613463,,3,Gckr
2p21,2:41500000-47500000,"LEPQTL1, LSL",Leptin serum levels quantitative trait locus 1,601694,,7839,,,[Leptin serum levels QTL1],601694,,2,
2p21,2:43230850-43596045,"THADA, KIAA1767",Thyroid adenoma-associated gene,611800,THADA,63892,"ENSG00000115970,ENST00000405006.8",,,,,Thada,
2p21,2:44941701-44946070,"SIX3, HPE2",SIX homeobox 3,603714,SIX3,6496,"ENSG00000138083,ENST00000260653.5",,Holoprosencephaly 2,157170,Autosomal dominant,3,Six3
2p21,2:44941701-44946070,"SIX3, HPE2",SIX homeobox 3,603714,SIX3,6496,"ENSG00000138083,ENST00000260653.5",,Schizencephaly,269160,,3,Six3
2p21,2:46915865-47076122,"TTC7A, TTC7, KIAA1140, MINAT, GIDID",Tetratricopeptide repeat domain 7A,609332,TTC7A,57217,"ENSG00000068724,ENST00000394850.6",,Gastrointestinal defects and immunodeficiency syndrome,243150,Autosomal recessive,3,Ttc7
2p16.3,2:47783144-47806953,"MSH6, GTBP, HNPCC5",mutS homolog 6,600678,MSH6,2956,"ENSG00000116062,ENST00000234420.10",0.5 Mb from MSH2,"{Endometrial cancer, familial}",608089,Autosomal dominant; Somatic mutation,3,Msh6
2p16.3,2:47783144-47806953,"MSH6, GTBP, HNPCC5",mutS homolog 6,600678,MSH6,2956,"ENSG00000116062,ENST00000234420.10",0.5 Mb from MSH2,"Colorectal cancer, hereditary nonpolyposis, type 5",614350,Autosomal dominant,3,Msh6
2p16.3,2:47783144-47806953,"MSH6, GTBP, HNPCC5",mutS homolog 6,600678,MSH6,2956,"ENSG00000116062,ENST00000234420.10",0.5 Mb from MSH2,Mismatch repair cancer syndrome,276300,Autosomal recessive,3,Msh6
2p14,2:68178856-68252531,"PPP3R1, CALNB1","Protein phosphatase-3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)",601302,PPP3R1,5534,"ENSG00000221823,ENST00000234310.8",,,,,Ppp3r1,
2p13.1,2:73385757-73609918,"ALMS1, ALSS, KIAA0328",ALMS1 centrosome and basal body associated protein,606844,ALMS1,7840,"ENSG00000116127,ENST00000613296.5",,Alstrom syndrome,203800,Autosomal recessive,3,Alms1
2p13.1,2:73640722-73642421,"NAT8, TSC510",N-acetyltransferase 8,606716,NAT8,9027,"ENSG00000144035,ENST00000272425.4",,,,,Nat8,
2p13.1,2:73926826-73958960,"DGUOK, DGK, MTDPS3, PEOB4, NCPH","Deoxyguanosine kinase, mitochondrial",601465,DGUOK,1716,"ENSG00000114956,ENST00000264093.9",,Mitochondrial DNA depletion syndrome 3 (hepatocerebral type),251880,Autosomal recessive,3,Dguok
2p13.1,2:73926826-73958960,"DGUOK, DGK, MTDPS3, PEOB4, NCPH","Deoxyguanosine kinase, mitochondrial",601465,DGUOK,1716,"ENSG00000114956,ENST00000264093.9",,"Portal hypertension, noncirrhotic",617068,Autosomal recessive,3,Dguok
2p13.1,2:73926826-73958960,"DGUOK, DGK, MTDPS3, PEOB4, NCPH","Deoxyguanosine kinase, mitochondrial",601465,DGUOK,1716,"ENSG00000114956,ENST00000264093.9",,"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",617070,Autosomal recessive,3,Dguok
2p13.1,2:73982035-74135393,"TET3, KIAA0401, BEFAHRS","TET oncogene family, member 3",613555,TET3,200424,"ENSG00000187605,ENST00000409262.7",,Beck-Fahrner syndrome,618798,Autosomal dominant; Autosomal recessive,3,Tet3
2p12,2:74834125-74893358,HK2,"Hexokinase-2, muscle",601125,HK2,3099,"ENSG00000159399,ENST00000290573.7",no recombination with TGFA,,,,Hk2,
2p12,2:79120487-79123408,"REG1A, PSPS1, REG","Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)",167770,REG1A,5967,"ENSG00000115386,ENST00000233735.2",,,,,Reg1,
2p11.2,2:85837119-85889033,"SIAT9, ST3GALV, SPDRS",Sialyltransferase 9,604402,ST3GAL5,8869,"ENSG00000115525,ENST00000393808.8",,Salt and pepper developmental regression syndrome,609056,Autosomal recessive,3,St3gal5
2p11.2,2:86784604-86808395,CD8A,"CD8 antigen, alpha polypeptide  (p32)",186910,CD8A,925,"ENSG00000153563,ENST00000409511.6",distal to IGK,"CD8 deficiency, familial",608957,Autosomal recessive,3,Cd8a
2p11.2,2:88556740-88627463,"EIF2AK3, PEK, PERK, WRS",Eukaryotic translation initiation factor 2-alpha kinase 3,604032,EIF2AK3,9451,"ENSG00000172071,ENST00000652736.1",,Wolcott-Rallison syndrome,226980,Autosomal recessive,3,Eif2ak3
2q11.2,2:96837911-96844020,"ANKRD23, DARP",Ankyrin repeat domain-containing protein 23,610736,ANKRD23,200539,"ENSG00000163126,ENST00000318357.9",,,,,Ankrd23,
2q11.2,2:98619105-98731131,MGAT4A,"Alpha-1,3-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A",604623,MGAT4A,11320,"ENSG00000071073,ENST00000414521.6",,,,,Mgat4a,
2q13,2:110123347-110205012,"NPHP1, NPH1, SLSN1, JBTS4",Nephrocystin,607100,NPHP1,4867,"ENSG00000144061,ENST00000316534.8",,Joubert syndrome 4,609583,Autosomal recessive,3,Nphp1
2q13,2:110123347-110205012,"NPHP1, NPH1, SLSN1, JBTS4",Nephrocystin,607100,NPHP1,4867,"ENSG00000144061,ENST00000316534.8",,"Nephronophthisis 1, juvenile",256100,Autosomal recessive,3,Nphp1
2q13,2:110123347-110205012,"NPHP1, NPH1, SLSN1, JBTS4",Nephrocystin,607100,NPHP1,4867,"ENSG00000144061,ENST00000316534.8",,Senior-Loken syndrome-1,266900,Autosomal recessive,3,Nphp1
2q14.1,2:112773924-112784492,IL1A,"Interleukin-1, alpha",147760,IL1A,3552,"ENSG00000115008,ENST00000263339.4","within 430kb of IL1B, IL1RN",,,,Il1a,
2q14.1,2:113099364-113134015,"IL1RN, MVCD4, DIRA",Interleukin-1 receptor antagonist,147679,IL1RN,3557,"ENSG00000136689,ENST00000354115.6",,{Gastric cancer risk after H. pylori infection},137215,Autosomal dominant,3,Il1rn
2q14.1,2:113099364-113134015,"IL1RN, MVCD4, DIRA",Interleukin-1 receptor antagonist,147679,IL1RN,3557,"ENSG00000136689,ENST00000354115.6",,{Microvascular complications of diabetes 4},612628,,3,Il1rn
2q14.1,2:113099364-113134015,"IL1RN, MVCD4, DIRA",Interleukin-1 receptor antagonist,147679,IL1RN,3557,"ENSG00000136689,ENST00000354115.6",,Interleukin 1 receptor antagonist deficiency,612852,Autosomal recessive,3,Il1rn
2q14.1-q14.2,2:118088470-118110996,INSIG2,Insulin-induced gene 2,608660,INSIG2,51141,"ENSG00000125629,ENST00000485520.5",,,,,Insig2,
2q14.2,2:119429911-119438506,TMEM37,Transmembrane protein 37,618831,TMEM37,140738,"ENSG00000171227,ENST00000306406.5",,,,,Tmem37,
2q14.2,2:120735867-120992652,"GLI2, HPE9, CJS",GLI-Kruppel family member GLI2 (oncogene GLI2),165230,GLI2,2736,"ENSG00000074047,ENST00000361492.9",,Culler-Jones syndrome,615849,Autosomal dominant,3,Gli2
2q14.2,2:120735867-120992652,"GLI2, HPE9, CJS",GLI-Kruppel family member GLI2 (oncogene GLI2),165230,GLI2,2736,"ENSG00000074047,ENST00000361492.9",,Holoprosencephaly 9,610829,Autosomal dominant,3,Gli2
2q14.2,2:121530879-121531008,"RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN, LWS","RNA, U4ATAC small nuclear",601428,RNU4ATAC,100151683,"ENSG00000264229,ENST00000580972.1",,Lowry-Wood syndrome,226960,Autosomal recessive,3,
2q14.2,2:121530879-121531008,"RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN, LWS","RNA, U4ATAC small nuclear",601428,RNU4ATAC,100151683,"ENSG00000264229,ENST00000580972.1",,"Microcephalic osteodysplastic primordial dwarfism, type I",210710,Autosomal recessive,3,
2q14.2,2:121530879-121531008,"RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN, LWS","RNA, U4ATAC small nuclear",601428,RNU4ATAC,100151683,"ENSG00000264229,ENST00000580972.1",,Roifman syndrome,616651,Autosomal recessive,3,
2q24-q32,2:154000000-196600000,FGQTL1,Fasting plasma glucose level QTL 1,612108,,100499165,,associated with rs560887,[Fasting plasma glucose level QTL 1],612108,,2,
2q24.1,2:156435289-156586402,GPD2,Glycerol-3-phosphate dehydrogenase 2 (mitochondrial),138430,GPD2,2820,"ENSG00000115159,ENST00000438166.7",pseudogene on 19,"{Type 2 diabetes mellitus, susceptibility to}",125853,Autosomal dominant,3,Gpd2
2q24.2,2:161992244-162074214,"DPP4, CD26, ADCP2",Dipeptidylpeptidase IV (CD26; adenosine deaminase complexing protein-2),102720,DPP4,1803,"ENSG00000197635,ENST00000360534.8",,,,,Dpp4,
2q24.2,2:162142881-162152246,GCG,Glucagon,138030,GCG,2641,"ENSG00000115263,ENST00000418842.7",,,,,,
2q24.2,2:162267073-162318683,"IFIH1, MDA5, AGS7, SGMRT1",Interferon induced with helicase C domain 1,606951,IFIH1,64135,"ENSG00000115267,ENST00000649979.2",,Aicardi-Goutieres syndrome 7,615846,Autosomal dominant,3,Ifih1
2q24.2,2:162267073-162318683,"IFIH1, MDA5, AGS7, SGMRT1",Interferon induced with helicase C domain 1,606951,IFIH1,64135,"ENSG00000115267,ENST00000649979.2",,Singleton-Merten syndrome 1,182250,Autosomal dominant,3,Ifih1
2q24.3,2:162900000-168900000,IDDM19,"Diabetes mellitus, insulin-dependent, 19",610155,,,,associated with rs1990760,"{Diabetes mellitus, insulin-dependent, 19}",610155,,2,
2q31,2:168900000-182100000,IDDM7,Insulin-dependent diabetes mellitus-7,600321,,3406,,,"{Diabetes mellitus, insulin-dependent, 7}",600321,,2,
2q31.1,2:168901222-168909999,"G6PC2, IGRP","Glucose-6-phosphatase, catalytic, 2",608058,G6PC2,57818,"ENSG00000152254,ENST00000429379.2",,,,,G6pc2,
2q31.1,2:170813209-170861150,"GAD1, SCP, CPSQ1","Glutamate decarboxylase-1, brain, 67kD",605363,GAD1,2571,"ENSG00000128683,ENST00000358196.8",mutation identified in 1 CPSQ1 family,"?Cerebral palsy, spastic quadriplegic, 1",603513,Autosomal recessive,3,Gad1
2q31.1,2:171434165-171491028,"DCAF17, C20orf37",DDB1- and CUL4-associated factor 17,612515,DCAF17,80067,"ENSG00000115827,ENST00000539783.5",,Woodhouse-Sakati syndrome,241080,Autosomal recessive,3,Dcaf17
2q31.3,2:181668294-181680516,"NEUROD1, T2D",Neurogenic differentiation 1,601724,NEUROD1,4760,"ENSG00000162992,ENST00000295108.3",,"{Type 2 diabetes mellitus, susceptibility to}",125853,Autosomal dominant,3,Neurod1
2q31.3,2:181668294-181680516,"NEUROD1, T2D",Neurogenic differentiation 1,601724,NEUROD1,4760,"ENSG00000162992,ENST00000295108.3",,Maturity-onset diabetes of the young 6,606394,,3,Neurod1
2q32.2,2:189560589-189580810,"SLC40A1, SLC11A3, FPN1, IREG1, HFE4","Solute carrier family 40 (iron-regulated transporter), member 1",604653,SLC40A1,30061,"ENSG00000138449,ENST00000261024.6",,"Hemochromatosis, type 4",606069,Autosomal dominant,3,Slc40a1
2q32.2,2:190055699-190062728,"GDF8, MSTN, MSLHP",Growth differentiation factor-8 (myostatin),601788,MSTN,2660,"ENSG00000138379,ENST00000260950.5",,Muscle hypertrophy,614160,,3,Mstn
2q32.2,2:190968988-191014196,"STAT1, CANDF7, IMD31A, IMD31B, IMD31C",Signal transducer and activator of transcription-1,600555,STAT1,6772,"ENSG00000115415,ENST00000673942.1",,"Immunodeficiency 31A, mycobacteriosis, autosomal dominant",614892,Autosomal dominant,3,Stat1
2q32.2,2:190968988-191014196,"STAT1, CANDF7, IMD31A, IMD31B, IMD31C",Signal transducer and activator of transcription-1,600555,STAT1,6772,"ENSG00000115415,ENST00000673942.1",,"Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive",613796,Autosomal recessive,3,Stat1
2q32.2,2:190968988-191014196,"STAT1, CANDF7, IMD31A, IMD31B, IMD31C",Signal transducer and activator of transcription-1,600555,STAT1,6772,"ENSG00000115415,ENST00000673942.1",,"Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant",614162,Autosomal dominant,3,Stat1
2q32.3,2:196133582-196176502,"STK17B, DRAK2",Serine/threonine protein kinase 17b,604727,STK17B,9262,"ENSG00000081320,ENST00000263955.9",,,,,Stk17b,
2q33.1,2:201116163-201176686,"CFLAR, FLIP, CASPER, FLAME1, CASH",CASP8- and FADD-like apoptosis regulator,603599,CFLAR,8837,"ENSG00000003402,ENST00000423241.6",,,,,Cflar,
2q33.2,2:203867770-203873964,"CTLA4, IDDM12, CELIAC3, ALPS5",Cytotoxic T-lymphocyte-associated serine esterase-4,123890,CTLA4,1493,"ENSG00000163599,ENST00000295854.10",,"{Celiac disease, susceptibility to, 3}",609755,,3,Ctla4
2q33.2,2:203867770-203873964,"CTLA4, IDDM12, CELIAC3, ALPS5",Cytotoxic T-lymphocyte-associated serine esterase-4,123890,CTLA4,1493,"ENSG00000163599,ENST00000295854.10",,"{Diabetes mellitus, insulin-dependent, 12}",601388,,3,Ctla4
2q33.2,2:203867770-203873964,"CTLA4, IDDM12, CELIAC3, ALPS5",Cytotoxic T-lymphocyte-associated serine esterase-4,123890,CTLA4,1493,"ENSG00000163599,ENST00000295854.10",,{Hashimoto thyroiditis},140300,Autosomal dominant,3,Ctla4
2q33.2,2:203867770-203873964,"CTLA4, IDDM12, CELIAC3, ALPS5",Cytotoxic T-lymphocyte-associated serine esterase-4,123890,CTLA4,1493,"ENSG00000163599,ENST00000295854.10",,"{Systemic lupus erythematosus, susceptibility to}",152700,Autosomal dominant,3,Ctla4
2q33.2,2:203867770-203873964,"CTLA4, IDDM12, CELIAC3, ALPS5",Cytotoxic T-lymphocyte-associated serine esterase-4,123890,CTLA4,1493,"ENSG00000163599,ENST00000295854.10",,"Autoimmune lymphoproliferative syndrome, type V",616100,Autosomal dominant,3,Ctla4
2q33.3,2:206175315-206218046,GPR1,G protein-coupled receptor-1,600239,GPR1,2825,"ENSG00000183671,ENST00000437420.5",conflicting assignment to 15q21.6,,,,Gpr1,
2q33.3,2:207529942-207605987,CREB1,cAMP-response element-binding protein-1,123810,CREB1,1385,"ENSG00000118260,ENST00000430624.5",fusion gene with EWSR1,"Histiocytoma, angiomatoid fibrous, somatic",612160,,3,Creb1
2q34,2:208200000-214500000,IDDM13,Insulin-dependent diabetes mellitus-13,601318,,3412,,,"{Diabetes mellitus, insulin-dependent, 13}",601318,,2,
2q34,2:210477684-210679106,"CPS1, PHN","Carbamoyl-phosphate synthetase 1, mitochondrial",608307,CPS1,1373,"ENSG00000021826,ENST00000673711.1",urea cycle enzyme,"{Pulmonary hypertension, neonatal, susceptibility to}",615371,,3,Cps1
2q34,2:210477684-210679106,"CPS1, PHN","Carbamoyl-phosphate synthetase 1, mitochondrial",608307,CPS1,1373,"ENSG00000021826,ENST00000673711.1",urea cycle enzyme,Carbamoylphosphate synthetase I deficiency,237300,Autosomal recessive,3,Cps1
2q35,2:218381765-218396893,"NRAMP1, NRAMP, SLC11A1","Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1",600266,SLC11A1,6556,"ENSG00000018280,ENST00000233202.11",within 220 kb of VIL1,"{Buruli ulcer, susceptibility to}",610446,,3,Slc11a1
2q35,2:218381765-218396893,"NRAMP1, NRAMP, SLC11A1","Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1",600266,SLC11A1,6556,"ENSG00000018280,ENST00000233202.11",within 220 kb of VIL1,"{Mycobacterium tuberculosis, susceptibility to infection by}",607948,,3,Slc11a1
2q35,2:219001644-219001707,"MIR375, MIRN375",Micro RNA 375,611173,MIR375,494324,"ENSG00000198973,ENST00000362103.4",,,,,,
2q35,2:219289622-219309403,"PTPRN, IA2","Protein tyrosine phosphatase, receptor type N (islet cell antigen 2)",601773,PTPRN,5798,"ENSG00000054356,ENST00000409251.7",,,,,Ptprn,
2q35,2:219327406-219334534,RESP18,Regulated endocrine-specific protein 18,612721,RESP18,389075,"ENSG00000182698,ENST00000333527.6",,,,,Resp18,
2q36.3,2:226731311-226799819,IRS1,Insulin receptor substrate-1,147545,IRS1,3667,"ENSG00000169047,ENST00000305123.5",,"{Coronary artery disease, susceptibility to}",,,3,Irs1
2q36.3,2:226731311-226799819,IRS1,Insulin receptor substrate-1,147545,IRS1,3667,"ENSG00000169047,ENST00000305123.5",,"{Type 2 diabetes mellitus, susceptibility to}",125853,Autosomal dominant,3,Irs1
2q37.1,2:233354493-233472097,DGKD,"Diacylglycerol kinase, delta, 130kD",601826,DGKD,8527,"ENSG00000077044,ENST00000409813.7",,,,,Dgkd,
2q37.1,2:233760269-233773299,"UGT1A1, UGT1, GNT1, BILIQTL1","UDP glycosyltransferase 1 family, polypeptide A1",191740,UGT1A1,54658,"ENSG00000241635,ENST00000305208.10",,"[Bilirubin, serum level of, QTL1]",601816,,3,Ugt1a1
2q37.1,2:233760269-233773299,"UGT1A1, UGT1, GNT1, BILIQTL1","UDP glycosyltransferase 1 family, polypeptide A1",191740,UGT1A1,54658,"ENSG00000241635,ENST00000305208.10",,[Gilbert syndrome],143500,Autosomal recessive,3,Ugt1a1
2q37.1,2:233760269-233773299,"UGT1A1, UGT1, GNT1, BILIQTL1","UDP glycosyltransferase 1 family, polypeptide A1",191740,UGT1A1,54658,"ENSG00000241635,ENST00000305208.10",,"Crigler-Najjar syndrome, type I",218800,Autosomal recessive,3,Ugt1a1
2q37.1,2:233760269-233773299,"UGT1A1, UGT1, GNT1, BILIQTL1","UDP glycosyltransferase 1 family, polypeptide A1",191740,UGT1A1,54658,"ENSG00000241635,ENST00000305208.10",,"Crigler-Najjar syndrome, type II",606785,Autosomal recessive,3,Ugt1a1
2q37.1,2:233760269-233773299,"UGT1A1, UGT1, GNT1, BILIQTL1","UDP glycosyltransferase 1 family, polypeptide A1",191740,UGT1A1,54658,"ENSG00000241635,ENST00000305208.10",,"Hyperbilirubinemia, familial transient neonatal",237900,Autosomal recessive,3,Ugt1a1
2q37.3,2:240568483-240581371,RNPEPL1,Arginyl aminopeptidase-like 1 (aminopeptidase B-like),605287,RNPEPL1,57140,"ENSG00000142327,ENST00000270357.10",,,,,Rnpepl1,
2q37.3,2:240586733-240599103,"CAPN10, NIDDM1",Calpain-10,605286,CAPN10,11132,"ENSG00000142330,ENST00000391984.7",,"{Diabetes mellitus, noninsulin-dependent 1}",601283,,3,Capn10
2q37.3,2:240605429-240631252,GPR35,G protein-coupled receptor-35,602646,GPR35,2859,"ENSG00000178623,ENST00000430267.2",,,,,Gpr35,
3p26,,STQTL5,Stature quantitative trait locus 5,608982,,619479,,max lod between D3S1297 and D3S1304,{Stature QTL 5},608982,,2,
3p26.1,3:4493347-4847505,"ITPR1, SCA15, SCA16, SCA29","Inositol 1,4,5-triphosphate receptor, type 1",147265,ITPR1,3708,"ENSG00000150995,ENST00000357086.10",,Gillespie syndrome,206700,Autosomal dominant; Autosomal recessive,3,Itpr1
3p26.1,3:4493347-4847505,"ITPR1, SCA15, SCA16, SCA29","Inositol 1,4,5-triphosphate receptor, type 1",147265,ITPR1,3708,"ENSG00000150995,ENST00000357086.10",,Spinocerebellar ataxia 15,606658,Autosomal dominant,3,Itpr1
3p26.1,3:4493347-4847505,"ITPR1, SCA15, SCA16, SCA29","Inositol 1,4,5-triphosphate receptor, type 1",147265,ITPR1,3708,"ENSG00000150995,ENST00000357086.10",,"Spinocerebellar ataxia 29, congenital nonprogressive",117360,Autosomal dominant,3,Itpr1
3p25.3,3:8733801-8746757,"CAV3, LQT9, MPDT, RMD2",Caveolin-3,601253,CAV3,859,"ENSG00000182533,ENST00000397368.2",within 7-10kb of OXTR,"Cardiomyopathy, familial hypertrophic",192600,Autosomal dominant; Digenic dominant,3,Cav3
3p25.3,3:8733801-8746757,"CAV3, LQT9, MPDT, RMD2",Caveolin-3,601253,CAV3,859,"ENSG00000182533,ENST00000397368.2",within 7-10kb of OXTR,"Creatine phosphokinase, elevated serum",123320,Autosomal dominant,3,Cav3
3p25.3,3:8733801-8746757,"CAV3, LQT9, MPDT, RMD2",Caveolin-3,601253,CAV3,859,"ENSG00000182533,ENST00000397368.2",within 7-10kb of OXTR,Long QT syndrome 9,611818,Autosomal dominant,3,Cav3
3p25.3,3:8733801-8746757,"CAV3, LQT9, MPDT, RMD2",Caveolin-3,601253,CAV3,859,"ENSG00000182533,ENST00000397368.2",within 7-10kb of OXTR,"Myopathy, distal, Tateyama type",614321,Autosomal dominant,3,Cav3
3p25.3,3:8733801-8746757,"CAV3, LQT9, MPDT, RMD2",Caveolin-3,601253,CAV3,859,"ENSG00000182533,ENST00000397368.2",within 7-10kb of OXTR,Rippling muscle disease 2,606072,Autosomal dominant,3,Cav3
3p25.3,3:9866709-9880252,"CIDEC, FSP27, CIDE3, FPLD5",Cell death-inducing DFFA-like effector C,612120,CIDEC,63924,"ENSG00000187288,ENST00000618572.4",1 patient identified with mutation,"?Lipodystrophy, familial partial, type 5",615238,Autosomal recessive,3,Cidec
3p25.3,3:10285665-10292946,GHRL,Ghrelin,605353,GHRL,51738,"ENSG00000157017,ENST00000287656.11",,"{Obesity, susceptibility to}",601665,Autosomal dominant; Autosomal recessive; Multifactorial,3,Ghrl
3p25.2,3:12287367-12434343,"PPARG, PPARG1, PPARG2, CIMT1, GLM1","Peroxisome proliferator activated receptor, gamma",601487,PPARG,5468,"ENSG00000132170,ENST00000397000.6","PPARG1, PPARG2 from same gene","[Obesity, resistance to]",,,3,Pparg
3p25.2,3:12287367-12434343,"PPARG, PPARG1, PPARG2, CIMT1, GLM1","Peroxisome proliferator activated receptor, gamma",601487,PPARG,5468,"ENSG00000132170,ENST00000397000.6","PPARG1, PPARG2 from same gene","{Diabetes, type 2}",125853,Autosomal dominant,3,Pparg
3p25.2,3:12287367-12434343,"PPARG, PPARG1, PPARG2, CIMT1, GLM1","Peroxisome proliferator activated receptor, gamma",601487,PPARG,5468,"ENSG00000132170,ENST00000397000.6","PPARG1, PPARG2 from same gene",Carotid intimal medial thickness 1,609338,,3,Pparg
3p25.2,3:12287367-12434343,"PPARG, PPARG1, PPARG2, CIMT1, GLM1","Peroxisome proliferator activated receptor, gamma",601487,PPARG,5468,"ENSG00000132170,ENST00000397000.6","PPARG1, PPARG2 from same gene","Insulin resistance, severe, digenic",604367,Autosomal dominant,3,Pparg
3p25.2,3:12287367-12434343,"PPARG, PPARG1, PPARG2, CIMT1, GLM1","Peroxisome proliferator activated receptor, gamma",601487,PPARG,5468,"ENSG00000132170,ENST00000397000.6","PPARG1, PPARG2 from same gene","Lipodystrophy, familial partial, type 3",604367,Autosomal dominant,3,Pparg
3p25.2,3:12287367-12434343,"PPARG, PPARG1, PPARG2, CIMT1, GLM1","Peroxisome proliferator activated receptor, gamma",601487,PPARG,5468,"ENSG00000132170,ENST00000397000.6","PPARG1, PPARG2 from same gene","Obesity, severe",601665,Autosomal dominant; Autosomal recessive; Multifactorial,3,Pparg
3p22.2,3:38007495-38029641,"PLCD1, NDNC3","Phospholipase C, delta-1",602142,PLCD1,5333,"ENSG00000187091,ENST00000463876.5",,"Nail disorder, nonsyndromic congenital, 3, (leukonychia)",151600,Autosomal dominant; Autosomal recessive,3,Plcd1
3p22.2,3:38138660-38143021,"MYD88, MYD88D, IMD68",MYD88 innate immune signal transduction adaptor,602170,MYD88,4615,"ENSG00000172936,ENST00000650112.1",,Immunodeficiency 68,612260,Autosomal recessive,3,Myd88
3p22.2,3:38138660-38143021,"MYD88, MYD88D, IMD68",MYD88 innate immune signal transduction adaptor,602170,MYD88,4615,"ENSG00000172936,ENST00000650112.1",,"Macroglobulinemia, Waldenstrom, somatic",153600,,3,Myd88
3p22.2,3:38696806-38816216,"SCN10A, FEPS2","Sodium voltage-gated channel, alpha subunit 10",604427,SCN10A,6336,"ENSG00000185313,ENST00000643924.1",,"Episodic pain syndrome, familial, 2",615551,Autosomal dominant,3,Scn10a
3p22.2,3:39263493-39281734,"CX3CR1, GPR13, V28",Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13),601470,CX3CR1,1524,"ENSG00000168329,ENST00000541347.5",,"{Coronary artery disease, resistance to}",607339,,3,Cx3cr1
3p22.2,3:39263493-39281734,"CX3CR1, GPR13, V28",Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13),601470,CX3CR1,1524,"ENSG00000168329,ENST00000541347.5",,"{Macular degeneration, age-related, 12}",613784,,3,Cx3cr1
3p22.2,3:39263493-39281734,"CX3CR1, GPR13, V28",Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13),601470,CX3CR1,1524,"ENSG00000168329,ENST00000541347.5",,{Rapid progression to AIDS from HIV1 infection},609423,,3,Cx3cr1
3p22.1,3:42257825-42266184,CCK,Cholecystokinin,118440,CCK,885,"ENSG00000187094,ENST00000396169.7",,,,,Cck,
3p21.31,3:45388563-45549406,"LARS2, PRLTS4, HLASA","Leucyl-tRNA synthetase, mitochondrial",604544,LARS2,23395,"ENSG00000011376,ENST00000650792.2",mutation identified in 1 HLASA patient,"?Hydrops, lactic acidosis, and sideroblastic anemia",617021,Autosomal recessive,3,Lars2
3p21.31,3:45388563-45549406,"LARS2, PRLTS4, HLASA","Leucyl-tRNA synthetase, mitochondrial",604544,LARS2,23395,"ENSG00000011376,ENST00000650792.2",mutation identified in 1 HLASA patient,Perrault syndrome 4,615300,Autosomal recessive,3,Lars2
3p21.31,3:46370141-46376205,"CCR5, CMKBR5, CCCKR5, IDDM22",Chemokine (C-C) receptor 5,601373,CCR5,1234,"ENSG00000160791,ENST00000292303.4",,"{Diabetes mellitus, insulin-dependent, 22}",612522,,3,Ccr5
3p21.31,3:46370141-46376205,"CCR5, CMKBR5, CCCKR5, IDDM22",Chemokine (C-C) receptor 5,601373,CCR5,1234,"ENSG00000160791,ENST00000292303.4",,"{Hepatitis C virus, resistance to}",609532,,3,Ccr5
3p21.31,3:46370141-46376205,"CCR5, CMKBR5, CCCKR5, IDDM22",Chemokine (C-C) receptor 5,601373,CCR5,1234,"ENSG00000160791,ENST00000292303.4",,"{HIV infection, susceptibility/resistance to}",,,3,Ccr5
3p21.31,3:46370141-46376205,"CCR5, CMKBR5, CCCKR5, IDDM22",Chemokine (C-C) receptor 5,601373,CCR5,1234,"ENSG00000160791,ENST00000292303.4",,"{West nile virus, susceptibility to}",610379,,3,Ccr5
3p21.31,3:49359144-49411975,"RHOA, ARHA, ARH12, RHOH12, EDFAOB","Ras homolog gene family, member A (oncogene RHO H12)",165390,RHOA,387,"ENSG00000067560,ENST00000422781.5",,"Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic",618727,,3,Rhoa
3p21.31,3:49724293-49786541,"IHPK1, IP6K1, KIAA0263",Inositol hexaphosphate kinase 1,606991,IP6K1,9807,"ENSG00000176095,ENST00000395238.5",,,,,Ip6k1,
3p21.2,3:52075225-52154422,"POC1A, PIX2, SOFT",POC1 centriolar protein A,614783,POC1A,25886,"ENSG00000164087,ENST00000394970.6",,"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis",614813,Autosomal recessive,3,Poc1a
3p14.3,3:57197837-57227642,"HESX1, RPX, CPHD5",Homeo box gene expressed in ES cells,601802,HESX1,8820,"ENSG00000163666,ENST00000647958.1",,Growth hormone deficiency with pituitary anomalies,182230,Autosomal dominant; Autosomal recessive,3,Hesx1
3p14.3,3:57197837-57227642,"HESX1, RPX, CPHD5",Homeo box gene expressed in ES cells,601802,HESX1,8820,"ENSG00000163666,ENST00000647958.1",,"Pituitary hormone deficiency, combined, 5",182230,Autosomal dominant; Autosomal recessive,3,Hesx1
3p14.3,3:57197837-57227642,"HESX1, RPX, CPHD5",Homeo box gene expressed in ES cells,601802,HESX1,8820,"ENSG00000163666,ENST00000647958.1",,Septooptic dysplasia,182230,Autosomal dominant; Autosomal recessive,3,Hesx1
3p14.3,3:57227728-57273470,"APPL1, APPL, MODY14","Adaptor protein containing PH domain, PTB domain, and leucine zipper motif 1",604299,APPL1,26060,"ENSG00000157500,ENST00000288266.8",,"{Maturity-onset diabetes of the young, type 14}",616511,Autosomal dominant,3,Appl1
3p13,3:71771654-71785147,"PROK2, PK2, BV8, HH4",Prokineticin 2,607002,PROK2,60675,"ENSG00000163421,ENST00000295619.4",,Hypogonadotropic hypogonadism 4 with or without anosmia,610628,Autosomal dominant,3,Prok2
3q11.1,3:93873050-93973895,"PROS1, THPH5, THPH6","Protein S, alpha",176880,PROS1,5627,"ENSG00000184500,ENST00000394236.9",pseudogene PROSP contiguous on chr.3,"Thrombophilia due to protein S deficiency, autosomal dominant",612336,Autosomal dominant,3,Pros1
3q11.1,3:93873050-93973895,"PROS1, THPH5, THPH6","Protein S, alpha",176880,PROS1,5627,"ENSG00000184500,ENST00000394236.9",pseudogene PROSP contiguous on chr.3,"Thrombophilia due to protein S deficiency, autosomal recessive",614514,Autosomal recessive,3,Pros1
3q11.2,3:97762580-97812584,"ARL6, BBS3, RP55",ADP-ribosylation factor-like 6,608845,ARL6,84100,"ENSG00000113966,ENST00000463745.6",,"{Bardet-Biedl syndrome 1, modifier of}",209900,Autosomal recessive; Digenic recessive,3,Arl6
3q11.2,3:97762580-97812584,"ARL6, BBS3, RP55",ADP-ribosylation factor-like 6,608845,ARL6,84100,"ENSG00000113966,ENST00000463745.6",,Bardet-Biedl syndrome 3,600151,Autosomal recessive,3,Arl6
3q11.2,3:97762580-97812584,"ARL6, BBS3, RP55",ADP-ribosylation factor-like 6,608845,ARL6,84100,"ENSG00000113966,ENST00000463745.6",,Retinitis pigmentosa 55,613575,,3,Arl6
3q12.2,3:100334756-100361634,NIT2,Nitrilase family member 2,616769,NIT2,56954,"ENSG00000114021,ENST00000394140.9",,,,,Nit2,
3q12.2,3:100709289-100748966,"TFG, HMSNP, SPG57",TRK-fused gene,602498,TFG,10342,"ENSG00000114354,ENST00000490574.5",fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family,"?Spastic paraplegia 57, autosomal recessive",615658,Autosomal recessive,3,Tfg
3q12.2,3:100709289-100748966,"TFG, HMSNP, SPG57",TRK-fused gene,602498,TFG,10342,"ENSG00000114354,ENST00000490574.5",fused with NR4A3 or NTRK1; mutation identified in 1 SPG57 family,"Hereditary motor and sensory neuropathy, Okinawa type",604484,Autosomal dominant,3,Tfg
3q13,3:103100000-122200000,CHDS5,"Coronary heart disease, susceptibility to, 5",608901,,,,,"{Coronary heart disease, susceptibility to, 5}",608901,,2,
3q13.11,3:105655460-105869551,CBLB,CAS-BR-M murine ecotropic retroviral transforming sequence B,604491,CBLB,868,"ENSG00000114423,ENST00000646825.1",,,,,Cblb,
3q13.31,3:113700000-117600000,"DEL3q13.31, C13DELq13.31",Chromosome 3q13.31 deletion syndrome,615433,,,,,Chromosome 3q13.31 deletion syndrome,615433,Autosomal dominant,4,
3q13.31,3:114314499-115147287,"ZBTB20, ZNF288, DPZF, PRIMS",Zinc finger and BTB-domain containing 20,606025,ZBTB20,26137,"ENSG00000181722,ENST00000474710.5",,Primrose syndrome,259050,Autosomal dominant,3,Zbtb20
3q13.33,3:119821320-120095822,GSK3B,Glycogen synthase kinase 3-beta,605004,GSK3B,2932,"ENSG00000082701,ENST00000264235.12",,,,,Gsk3b,
3q13.33,3:120392292-120450992,"FSTL1, FRP, MIR198",Follistatin-like 1,605547,FSTL1,11167,"ENSG00000163430,ENST00000295633.8",FSTL1 mRNA can encode a protein or produce an micoRNA,,,,Fstl1,
3q21,3:122200000-129500000,"FGQTL6, BWQTL3",Fasting plasma glucose level QTL 6; Birth weight QTL 3,613460,,100499168,,associated with rs11708067 and rs11708067,[Birth weight QTL 3],613460,,2,
3q21,3:122200000-129500000,"FGQTL6, BWQTL3",Fasting plasma glucose level QTL 6; Birth weight QTL 3,613460,,100499168,,associated with rs11708067 and rs11708067,[Fasting plasma glucose level QTL 6],613460,,2,
3q21.3,3:128052436-128071682,"SEC61A1, SEC61, HNFJ4","SEC61 translocon, alpha-1 subunit",609213,SEC61A1,29927,"ENSG00000058262,ENST00000243253.8",,"Hyperuricemic nephropathy, familial juvenile, 4",617056,Autosomal dominant,3,Sec61a1
3q21.3,3:128726182-128814797,"RAB7, CMT2B, PSN",Ras-associated protein RAB7,602298,RAB7A,7879,"ENSG00000075785,ENST00000265062.8",,"Charcot-Marie-Tooth disease, type 2B",600882,Autosomal dominant,3,Rab7
3q21.3,3:129167826-129183895,"CNBP, ZNF9, CNBP1, DM2, PROMM",CCHC-type zinc finger nucleic acid-binding protein,116955,CNBP,7555,"ENSG00000169714,ENST00000441626.6",,Myotonic dystrophy 2,602668,Autosomal dominant,3,Cnbp
3q22.1,3:132680608-132722408,"NPHP3, NPH3, RHPD1, MKS7",Nephrocystin 3,608002,NPHP3,27031,"ENSG00000113971,ENST00000337331.10",,Meckel syndrome 7,267010,Autosomal recessive,3,Nphp3
3q22.1,3:132680608-132722408,"NPHP3, NPH3, RHPD1, MKS7",Nephrocystin 3,608002,NPHP3,27031,"ENSG00000113971,ENST00000337331.10",,Nephronophthisis 3,604387,Autosomal recessive,3,Nphp3
3q22.1,3:132680608-132722408,"NPHP3, NPH3, RHPD1, MKS7",Nephrocystin 3,608002,NPHP3,27031,"ENSG00000113971,ENST00000337331.10",,Renal-hepatic-pancreatic dysplasia 1,208540,Autosomal recessive,3,Nphp3
3q22.3,3:138652697-138834927,"PIK3CB, PI3KCB","Phosphatidylinositol 3-kinase, catalytic, beta",602925,PIK3CB,5291,"ENSG00000051382,ENST00000544716.5",,,,,Pik3cb,
3q23,3:139000000-143100000,STQTL10,Stature quantitative trait locus 10,612221,,100270794,,associated with rs6440003,{Stature QTL 10},612221,,2,
3q24,3:148697870-148743002,"AGTR1, AGTR1A, AT2R1",Angiotensin receptor 1,106165,AGTR1,185,"ENSG00000144891,ENST00000349243.7",,"{Hypertension, essential}",145500,Multifactorial,3,Agtr1a
3q24,3:148697870-148743002,"AGTR1, AGTR1A, AT2R1",Angiotensin receptor 1,106165,AGTR1,185,"ENSG00000144891,ENST00000349243.7",,Renal tubular dysgenesis,267430,Autosomal recessive,3,Agtr1a
3q24-q25,3:149162409-149222007,CP,Ceruloplasmin,117700,CP,1356,"ENSG00000047457,ENST00000264613.11",~15cM from TF,"[Hypoceruloplasminemia, hereditary]",604290,Autosomal recessive,3,Cp
3q24-q25,3:149162409-149222007,CP,Ceruloplasmin,117700,CP,1356,"ENSG00000047457,ENST00000264613.11",~15cM from TF,Cerebellar ataxia,604290,Autosomal recessive,3,Cp
3q24-q25,3:149162409-149222007,CP,Ceruloplasmin,117700,CP,1356,"ENSG00000047457,ENST00000264613.11",~15cM from TF,"Hemosiderosis, systemic, due to aceruloplasminemia",604290,Autosomal recessive,3,Cp
3q25.1,3:151336842-151384752,"P2RY12, P2Y12, BDPLT8","Purinergic receptor P2Y, G protein-coupled, 12",600515,P2RY12,64805,"ENSG00000169313,ENST00000302632.3",,"Bleeding disorder, platelet-type, 8",609821,Autosomal recessive,3,P2ry12
3q26.1,3:165772903-165837422,"BCHE, CHE1, BCHED",Butyrylcholinesterase,177400,BCHE,590,"ENSG00000114200,ENST00000264381.8","distal to CP, TF","{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}",617936,,3,Bche
3q26.1,3:165772903-165837422,"BCHE, CHE1, BCHED",Butyrylcholinesterase,177400,BCHE,590,"ENSG00000114200,ENST00000264381.8","distal to CP, TF",Butyrylcholinesterase deficiency,617936,,3,Bche
3q26.2,3:170996340-171026720,"SLC2A2, GLUT2","Solute carrier family 2 (facilitated glucose transporter), member 2",138160,SLC2A2,6514,"ENSG00000163581,ENST00000314251.8",,"{Diabetes mellitus, noninsulin-dependent}",125853,Autosomal dominant,3,Slc2a2
3q26.2,3:170996340-171026720,"SLC2A2, GLUT2","Solute carrier family 2 (facilitated glucose transporter), member 2",138160,SLC2A2,6514,"ENSG00000163581,ENST00000314251.8",,Fanconi-Bickel syndrome,227810,Autosomal recessive,3,Slc2a2
3q26.31,3:172505507-172523429,"TNFSF10, TRAIL, APO2L","Tumor necrosis factor ligand superfamily, member 10",603598,TNFSF10,8743,"ENSG00000121858,ENST00000420541.6",,,,,Tnfsf10,
3q27,3:183000000-188200000,"AOMS1, SYNX",Abdominal obesity-metabolic syndrome QTL1,605552,,65076,,epistatic gene on 17p12,Abdominal obesity-metabolic syndrome 1,605552,Autosomal dominant,2,
3q27.1,3:184276021-184293030,"ECE2, KIAA0604",Endothelin-converting enzyme 2,610145,ECE2,9718,"ENSG00000145194,ENST00000359140.8",,,,,Ece2,
3q27.2,3:185190623-185254048,"EHHADH, PBFE, LBFP, FRTS3","Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase",607037,EHHADH,1962,"ENSG00000113790,ENST00000456310.5",mutation identified in 1 family,?Fanconi renotubular syndrome 3,615605,Autosomal dominant,3,Ehhadh
3q27.2,3:185643129-185825045,"IGF2BP2, IMP2",Insulin-like growth factor 2 mRNA-binding protein 2,608289,IGF2BP2,10644,"ENSG00000073792,ENST00000346192.7",,"{Diabetes mellitus, noninsulin-dependent, susceptibility to}",125853,Autosomal dominant,3,Igf2bp2
3q27.3,3:186613059-186621317,"AHSG, APMR1",Alpha-2HS-glycoprotein,138680,AHSG,197,"ENSG00000145192,ENST00000273784.5",mutation identified in 1 APMR1 family,?Alopecia-mental retardation syndrome 1,203650,Autosomal recessive,3,Ahsg
3q27.3,3:186842709-186858462,"ADIPOQ, APM1, GBP28, ADIPQTL1","Adipocyte-, C1q-, and collagen domain-containing",605441,ADIPOQ,9370,"ENSG00000181092,ENST00000444204.2",,Adiponectin deficiency,612556,,3,Adipoq
3q28,3:189596745-189897275,"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8",Tumor protein p63 (tumor protein p73-like),603273,TP63,8626,"ENSG00000073282,ENST00000392460.7",,ADULT syndrome,103285,Autosomal dominant,3,Trp63
3q28,3:189596745-189897275,"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8",Tumor protein p63 (tumor protein p73-like),603273,TP63,8626,"ENSG00000073282,ENST00000392460.7",,"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3",604292,Autosomal dominant,3,Trp63
3q28,3:189596745-189897275,"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8",Tumor protein p63 (tumor protein p73-like),603273,TP63,8626,"ENSG00000073282,ENST00000392460.7",,Hay-Wells syndrome,106260,Autosomal dominant,3,Trp63
3q28,3:189596745-189897275,"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8",Tumor protein p63 (tumor protein p73-like),603273,TP63,8626,"ENSG00000073282,ENST00000392460.7",,Limb-mammary syndrome,603543,Autosomal dominant,3,Trp63
3q28,3:189596745-189897275,"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8",Tumor protein p63 (tumor protein p73-like),603273,TP63,8626,"ENSG00000073282,ENST00000392460.7",,Orofacial cleft 8,618149,,3,Trp63
3q28,3:189596745-189897275,"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8",Tumor protein p63 (tumor protein p73-like),603273,TP63,8626,"ENSG00000073282,ENST00000392460.7",,Rapp-Hodgkin syndrome,129400,Autosomal dominant,3,Trp63
3q28,3:189596745-189897275,"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8",Tumor protein p63 (tumor protein p73-like),603273,TP63,8626,"ENSG00000073282,ENST00000392460.7",,Split-hand/foot malformation 4,605289,Autosomal dominant,3,Trp63
3q29,3:195514427-195543347,"PPP1R2, IPP2","Protein phosphatase-1, regulatory (inhibitor) subunit 2",601792,PPP1R2,5504,"ENSG00000184203,ENST00000438848.5",pseudogenes on chr. 5 and 6,,,,Ppp1r2,
3q29,3:196706276-196712249,"CEP19, C3orf34, MOSPGF","Centrosomal protein, 19kD",615586,CEP19,84984,"ENSG00000174007,ENST00000399942.4",mutation identified in 1 family,Morbid obesity and spermatogenic failure,615703,Autosomal recessive,3,Cep19
4p16.3,4:2843843-2930064,ADD1,"Adducin-1, alpha",102680,ADD1,118,"ENSG00000087274,ENST00000398129.5",,"{Hypertension, essential, salt-sensitive}",145500,Multifactorial,3,Add1
4p16.3,4:3074680-3243959,"HTT, HD, IT15, LOMARS",Huntingtin,613004,HTT,3064,"ENSG00000197386,ENST00000355072.10",distal to D4S10,Huntington disease,143100,Autosomal dominant,3,Htt
4p16.3,4:3074680-3243959,"HTT, HD, IT15, LOMARS",Huntingtin,613004,HTT,3064,"ENSG00000197386,ENST00000355072.10",distal to D4S10,Lopes-Maciel-Rodan syndrome,617435,Autosomal recessive,3,Htt
4p16.1,4:6260367-6303264,"WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41",Wolframin,606201,WFS1,7466,"ENSG00000109501,ENST00000503569.5",mutation identified in 1 CTRCT41 family,?Cataract 41,116400,Autosomal dominant,3,Wfs1
4p16.1,4:6260367-6303264,"WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41",Wolframin,606201,WFS1,7466,"ENSG00000109501,ENST00000503569.5",mutation identified in 1 CTRCT41 family,"{Diabetes mellitus, noninsulin-dependent, association with}",125853,Autosomal dominant,3,Wfs1
4p16.1,4:6260367-6303264,"WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41",Wolframin,606201,WFS1,7466,"ENSG00000109501,ENST00000503569.5",mutation identified in 1 CTRCT41 family,"Deafness, autosomal dominant 6/14/38",600965,Autosomal dominant,3,Wfs1
4p16.1,4:6260367-6303264,"WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41",Wolframin,606201,WFS1,7466,"ENSG00000109501,ENST00000503569.5",mutation identified in 1 CTRCT41 family,Wolfram syndrome 1,222300,Autosomal recessive,3,Wfs1
4p16.1,4:6260367-6303264,"WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41",Wolframin,606201,WFS1,7466,"ENSG00000109501,ENST00000503569.5",mutation identified in 1 CTRCT41 family,"Wolfram-like syndrome, autosomal dominant",614296,Autosomal dominant,3,Wfs1
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Phenotype Mapping Key,,,,,,,,,,,,,
"1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known.",,,,,,,,,,,,,
2 - The disorder was placed on the map by statistical methods.,,,,,,,,,,,,,
3 - The molecular basis of the disorder is known.,,,,,,,,,,,,,
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved.,,,,,,,,,,,,,
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This search returned 811 entries which exceeded the maximum of 200 so the results were truncated,,,,,,,,,,,,,
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