Gene Map Search - 'heart failure (Search in: Entries with: Genemap; Retrieve: gene map)',,,,,,,,,,,,,
Downloaded:,"Oct 14, 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,,"CMM, MLM, DNS",Cutaneous malignant melanoma/dysplastic nevus,155600,,1243,,some linkage studies negative; see 9p,"{Melanoma, cutaneous malignant, 1}",155600,Autosomal dominant,2,
1p36,,"DEL1p36, C1DELp36",Chromosome 1p36 deletion syndrome,607872,,,,contiguous gene deletion syndrome,Chromosome 1p36 deletion syndrome,607872,Isolated cases,4,
1p36.33,1:975197-982092,"PERM1, C1orf170","PPARGC1-and ESRR-induced regulator, muscle, 1",615921,PERM1,84808,"ENSG00000187642,ENST00000433179.3",,,,,,
1p36.33,1:1020101-1056118,"AGRN, CMS8",Agrin,103320,AGRN,375790,"ENSG00000188157,ENST00000620552.4",,"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects",615120,Autosomal recessive,3,Agrn
1p36.33,1:1167103-1167197,"MIR200B, MIRN200B",Micro RNA 200B,612091,MIR200B,406984,"ENSG00000207730,ENST00000384997.3",,,,,,
1p36.33,1:1169004-1169086,"MIR429, MIRN429",Micro RNA 429,612094,MIR429,554210,"ENSG00000198976,ENST00000362106.1",,,,,,
1p36.33,1:1232236-1235040,"B3GALT6, SEMDJL1, EDSSPD2, ALGAZ","UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6",615291,B3GALT6,126792,"ENSG00000176022,ENST00000379198.5",,Al-Gazali syndrome,609465,,3,B3galt6
1p36.33,1:1232236-1235040,"B3GALT6, SEMDJL1, EDSSPD2, ALGAZ","UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6",615291,B3GALT6,126792,"ENSG00000176022,ENST00000379198.5",,"Ehlers-Danlos syndrome, spondylodysplastic type, 2",615349,Autosomal recessive,3,B3galt6
1p36.33,1:1232236-1235040,"B3GALT6, SEMDJL1, EDSSPD2, ALGAZ","UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6",615291,B3GALT6,126792,"ENSG00000176022,ENST00000379198.5",,"Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",271640,Autosomal recessive,3,B3galt6
1p36.33,1:1335277-1349417,"DVL1, DRS2",Dishevelled segment polarity protein 1,601365,DVL1,1855,"ENSG00000107404,ENST00000378888.10",,"Robinow syndrome, autosomal dominant 2",616331,Autosomal dominant,3,Dvl1
1p36.33,1:1373729-1375515,"AURKAIP1, AKIP, AIP",Aurora kinase A-interacting protein 1,609183,AURKAIP1,54998,"ENSG00000175756,ENST00000378853.3",,,,,Aurkaip1,
1p36.33,1:1385710-1399335,CCNL2,Cyclin L2,613482,CCNL2,81669,"ENSG00000221978,ENST00000408918.8",,,,,Ccnl2,
1p36.33,1:1471731-1509465,"ATAD3B, TOB3, KIAA1273","ATPase family, AAA domain-containing, member 3B",612317,ATAD3B,83858,"ENSG00000160072,ENST00000472194.6",,,,,,
1p36.33,1:1512142-1534685,"ATAD3A, HAYOS, PHRINL","ATPase family, AAA domain-containing, member 3A",612316,ATAD3A,55210,"ENSG00000197785,ENST00000378756.8",,Harel-Yoon syndrome,617183,Autosomal dominant; Autosomal recessive,3,Atad3a
1p36.33,1:1512142-1534685,"ATAD3A, HAYOS, PHRINL","ATPase family, AAA domain-containing, member 3A",612316,ATAD3A,55210,"ENSG00000197785,ENST00000378756.8",,"Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal",618810,Autosomal recessive,3,Atad3a
1p36.33,1:1613729-1630609,MIB2,Mindbomb E3 ubiquitin protein ligase 2,611141,MIB2,142678,"ENSG00000197530,ENST00000520777.5",,,,,Mib2,
1p36.33,1:1699938-1701807,"MMP23A, MMP21, MIFR",Matrix metalloproteinase 23A,603320,MMP23A,8511,"ENSG00000215914,ENST00000234610.5",,,,,,
1p36.33,1:1751231-1780508,NADK,NAD kinase,611616,NADK,65220,"ENSG00000008130,ENST00000341991.7",,,,,Nadk,
1p36.33,1:1785285-1891086,"GNB1, MRD42","Guanine nucleotide-binding protein, beta polypeptide-1",139380,GNB1,2782,"ENSG00000078369,ENST00000615252.4",,"Leukemia, acute lymphoblastic, somatic",613065,,3,Gnb1
1p36.33,1:1785285-1891086,"GNB1, MRD42","Guanine nucleotide-binding protein, beta polypeptide-1",139380,GNB1,2782,"ENSG00000078369,ENST00000615252.4",,"Mental retardation, autosomal dominant 42",616973,Autosomal dominant,3,Gnb1
1p36.33,1:1913750-1917295,"CALML6, CAGLP",Calmodulin-like 6,610171,CALML6,163688,"ENSG00000169885,ENST00000378604.3",,,,,,
1p36.33-p36.32,1:2228318-2310212,"SKI, SGS",SKI proto-oncogene,164780,SKI,6497,"ENSG00000157933,ENST00000378536.5",formerly mapped to 1q22-q24,Shprintzen-Goldberg syndrome,182212,Autosomal dominant,3,Ski
1p36.32,1:2403973-2413826,"PEX10, NALD, PBD6A, PBD6B",Peroxisome biogenesis factor 10,602859,PEX10,5192,"ENSG00000157911,ENST00000447513.6",,Peroxisome biogenesis disorder 6A (Zellweger),614870,Autosomal recessive,3,Pex10
1p36.32,1:2403973-2413826,"PEX10, NALD, PBD6A, PBD6B",Peroxisome biogenesis factor 10,602859,PEX10,5192,"ENSG00000157911,ENST00000447513.6",,Peroxisome biogenesis disorder 6B,614871,Autosomal recessive,3,Pex10
1p36.32,1:2528744-2530553,HES5,Hes family bHLH transcription factor 5,607348,HES5,388585,"ENSG00000197921,ENST00000378453.4",,,,,Hes5,
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
1p36.32,1:3625014-3630126,"TPRG1L, FAM79A",Tumor protein p63 regulated 1-like,611460,TPRG1L,127262,"ENSG00000158109,ENST00000378344.7",,,,,Tprgl,
1p36.32,1:3630766-3650102,WDR8,WD repeat-containing protein 8,606040,WRAP73,49856,"ENSG00000116213,ENST00000270708.12",,,,,Wrap73,
1p36.32,1:3652515-3736200,TP73,p53-related protein,601990,TP73,7161,"ENSG00000078900,ENST00000378288.8",imprinted,,,,Trp73,
1p36.32,1:3772748-3775955,"SMIM1, VEL",Small integral membrane protein 1,615242,SMIM1,388588,"ENSG00000235169,ENST00000444870.7",,"[Blood group, Vel system]",615264,Autosomal recessive,3,Smim1
1p36.31,1:5862809-5992424,"NPHP4, SLSN4",Nephrocystin 4,607215,NPHP4,261734,"ENSG00000131697,ENST00000478423.6",,Nephronophthisis 4,606966,Autosomal recessive,3,Nphp4
1p36.31,1:5862809-5992424,"NPHP4, SLSN4",Nephrocystin 4,607215,NPHP4,261734,"ENSG00000131697,ENST00000478423.6",,Senior-Loken syndrome 4,606996,Autosomal recessive,3,Nphp4
1p36.31,1:6206003-6221298,"RNF207, C1orf188",RING finger protein 207,616923,RNF207,388591,"ENSG00000158286,ENST00000377939.5",,,,,Rnf207,
1p36.31,1:6460785-6466172,"TNFRSF25, TNFRSF12, DR3, LARD","Tumor necrosis factor receptor superfamily, member 25",603366,TNFRSF25,8718,"ENSG00000215788,ENST00000453341.1",,,,,Tnfrsf25,
1p36.31,1:6466091-6520091,"PLEKHG5, KIAA0720, DSMA4, CMTRIC",Pleckstrin homology domain- and RhoGEF domain-containing protein G5,611101,PLEKHG5,57449,"ENSG00000171680,ENST00000400915.7",,"Charcot-Marie-Tooth disease, recessive intermediate C",615376,Autosomal recessive,3,Plekhg5
1p36.31,1:6466091-6520091,"PLEKHG5, KIAA0720, DSMA4, CMTRIC",Pleckstrin homology domain- and RhoGEF domain-containing protein G5,611101,PLEKHG5,57449,"ENSG00000171680,ENST00000400915.7",,"Spinal muscular atrophy, distal, autosomal recessive, 4",611067,Autosomal recessive,3,Plekhg5
1p36.31,1:6590723-6602868,"KLHL21, KIAA0469",Kelch-like 21,616262,KLHL21,9903,"ENSG00000162413,ENST00000377663.3",,,,,Klhl21,
1p36.2,1:7100000-15900000,SCZD12,Schizophrenia 12,608543,,619488,,max lod at D1S1612,{Schizophrenia 12},181500,Autosomal dominant,2,
1p36.23,1:7846344-7913614,UTS2,Urotensin II,604097,UTS2,10911,"ENSG00000049247,ENST00000361696.9",,,,,Uts2,
1p36.23,1:7961710-7985504,"DJ1, PARK7",Oncogene DJ-1,602533,PARK7,11315,"ENSG00000116288,ENST00000493678.5",,"Parkinson disease 7, autosomal recessive early-onset",606324,Autosomal recessive,3,Park7
1p36.23,1:8318113-8344166,"SLC45A1, DNB5, IDDNPF","Solute carrier family 45, member 1",605763,SLC45A1,50651,"ENSG00000162426,ENST00000471889.5",,Intellectual developmental disorder with neuropsychiatric features,617532,Autosomal recessive,3,Slc45a1
1p36.23,1:8352403-8817639,"RERE, NEDBEH",RE repeats-encoding gene,605226,RERE,473,"ENSG00000142599,ENST00000400908.7",,"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart",616975,Autosomal dominant,3,Rere
1p36.22,1:9151667-9151776,"MIR34A, MIRN34A",Micro RNA 34A,611172,MIR34A,407040,"ENSG00000284357,ENST00000385130.1",,,,,,
1p36.22,1:9234766-9271336,"H6PD, GDH, G6PDH, CORTRD1",Hexose-6-phosphate dehydrogenase,138090,H6PD,9563,"ENSG00000049239,ENST00000602477.1",digenic triallelic mutations with HSD11B1,Cortisone reductase deficiency 1,604931,Autosomal recessive,3,H6pd
1p36.22,1:9539464-9585172,SLC25A33,"Solute carrier family 25 (mitochondrial carrier), member 33",610816,SLC25A33,84275,"ENSG00000171612,ENST00000302692.7",,,,,Slc25a33,
1p36.22,1:9629888-9729113,"PIK3CD, APDS, IMD14","Phosphatidylinositol 3-kinase, catalytic, 110kD, delta",602839,PIK3CD,5293,"ENSG00000171608,ENST00000377346.9",,Immunodeficiency 14,615513,Autosomal dominant,3,Pik3cd
1p36.22,1:9728925-9824525,"CLSTN1, KIAA0911",Calsyntenin 1,611321,CLSTN1,22883,"ENSG00000171603,ENST00000377298.9",,,,,Clstn1,
1p36.22,1:9848275-9910321,"CTNNBIP1, ICAT","Catenin, beta-interacting protein 1",607758,CTNNBIP1,56998,"ENSG00000178585,ENST00000400904.7",,,,,Ctnnbip1,
1p36.22,1:9942922-9996883,"NMNAT1, NMNAT, PNAT1, LCA9",Nicotinamide nucleotide adenylyltransferase 1,608700,NMNAT1,64802,"ENSG00000173614,ENST00000403197.5",,Leber congenital amaurosis 9,608553,Autosomal recessive,3,Nmnat1
1p36.22,1:10210569-10381602,"KIF1B, CMT2A, CMT2A1, NBLST1",Kinesin family member 1B,605995,KIF1B,23095,"ENSG00000054523,ENST00000676179.1",mutation identified in 1 CMT2A1 family,"?Charcot-Marie-Tooth disease, type 2A1",118210,Autosomal dominant,3,Kif1b
1p36.22,1:10210569-10381602,"KIF1B, CMT2A, CMT2A1, NBLST1",Kinesin family member 1B,605995,KIF1B,23095,"ENSG00000054523,ENST00000676179.1",mutation identified in 1 CMT2A1 family,"{Neuroblastoma, susceptibility to, 1}",256700,Autosomal dominant; Somatic mutation,3,Kif1b
1p36.22,1:10210569-10381602,"KIF1B, CMT2A, CMT2A1, NBLST1",Kinesin family member 1B,605995,KIF1B,23095,"ENSG00000054523,ENST00000676179.1",mutation identified in 1 CMT2A1 family,Pheochromocytoma,171300,Autosomal dominant,3,Kif1b
1p36.22,1:10636603-10796649,"CASZ1, SRG",Castor zinc finger protein 1,609895,CASZ1,54897,"ENSG00000130940,ENST00000377022.8",,,,,Casz1,
1p36.22,1:11012653-11030527,"TARDBP, TDP43, ALS10",TAR DNA-binding protein,605078,TARDBP,23435,"ENSG00000120948,ENST00000240185.7","pseudogenes on 2, 6, 8, 13, 20","Amyotrophic lateral sclerosis 10, with or without FTD",612069,Autosomal dominant,3,Tardbp
1p36.22,1:11012653-11030527,"TARDBP, TDP43, ALS10",TAR DNA-binding protein,605078,TARDBP,23435,"ENSG00000120948,ENST00000240185.7","pseudogenes on 2, 6, 8, 13, 20","Frontotemporal lobar degeneration, TARDBP-related",612069,Autosomal dominant,3,Tardbp
1p36.22,1:11106534-11273496,"MTOR, FRAP1, SKS",Mechanistic target of rapamycin,601231,MTOR,2475,"ENSG00000198793,ENST00000361445.9",,"Focal cortical dysplasia, type II, somatic",607341,,3,Mtor
1p36.22,1:11106534-11273496,"MTOR, FRAP1, SKS",Mechanistic target of rapamycin,601231,MTOR,2475,"ENSG00000198793,ENST00000361445.9",,Smith-Kingsmore syndrome,616638,Autosomal dominant,3,Mtor
1p36.22,1:11654374-11663326,"FBXO44, FBX44, FBX6A, FBG3",F-box protein 44,609111,FBXO44,93611,"ENSG00000132879,ENST00000376770.5",,,,,Fbxo44,
1p36.22,1:11674479-11691558,"MAD2L2, MAD2B, FANCV",Mitotic arrest-deficient 2 like 2,604094,MAD2L2,10459,"ENSG00000116670,ENST00000376667.7",mutation identified in 1 FANCV patient; pseudogene on 14q21-q23,"?Fanconi anemia, complementation group V",617243,Autosomal recessive,3,Mad2l2
1p36.22,1:11785722-11806102,MTHFR,Methylenetetrahydrofolate reductase,607093,MTHFR,4524,"ENSG00000177000,ENST00000376583.7",,"{Neural tube defects, susceptibility to}",601634,Autosomal recessive,3,Mthfr
1p36.22,1:11785722-11806102,MTHFR,Methylenetetrahydrofolate reductase,607093,MTHFR,4524,"ENSG00000177000,ENST00000376583.7",,"{Schizophrenia, susceptibility to}",181500,Autosomal dominant,3,Mthfr
1p36.22,1:11785722-11806102,MTHFR,Methylenetetrahydrofolate reductase,607093,MTHFR,4524,"ENSG00000177000,ENST00000376583.7",,"{Thromboembolism, susceptibility to}",188050,Autosomal dominant,3,Mthfr
1p36.22,1:11785722-11806102,MTHFR,Methylenetetrahydrofolate reductase,607093,MTHFR,4524,"ENSG00000177000,ENST00000376583.7",,"{Vascular disease, susceptibility to}",,,3,Mthfr
1p36.22,1:11785722-11806102,MTHFR,Methylenetetrahydrofolate reductase,607093,MTHFR,4524,"ENSG00000177000,ENST00000376583.7",,Homocystinuria due to MTHFR deficiency,236250,Autosomal recessive,3,Mthfr
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
1p36.22,1:11857463-11858944,"NPPB, BNP",Natriuretic peptide precursor B,600295,NPPB,4879,"ENSG00000120937,ENST00000376468.4",,,,,,
1p36.22,1:11934716-11975536,"PLOD1, LH1, LLH, EDSKCL1","Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase)",153454,PLOD1,5351,"ENSG00000083444,ENST00000196061.5",,"Ehlers-Danlos syndrome, kyphoscoliotic type, 1",225400,Autosomal recessive,3,Plod1
1p36.22,1:11980214-12013507,"MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B",Mitofusin 2,608507,MFN2,9927,"ENSG00000116688,ENST00000674817.1",,"Charcot-Marie-Tooth disease, axonal, type 2A2A",609260,Autosomal dominant,3,Mfn2
1p36.22,1:11980214-12013507,"MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B",Mitofusin 2,608507,MFN2,9927,"ENSG00000116688,ENST00000674817.1",,"Charcot-Marie-Tooth disease, axonal, type 2A2B",617087,Autosomal recessive,3,Mfn2
1p36.22,1:11980214-12013507,"MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B",Mitofusin 2,608507,MFN2,9927,"ENSG00000116688,ENST00000674817.1",,Hereditary motor and sensory neuropathy VIA,601152,Autosomal dominant,3,Mfn2
1p36.22-p36.21,1:12230029-12512046,"VPS13D, SCAR4",Vacuolar protein sorting 13 homolog D,608877,VPS13D,55187,"ENSG00000048707,ENST00000620676.6",,"Spinocerebellar ataxia, autosomal recessive 4",607317,Autosomal recessive,3,Vps13d
1p36.21,1:12567909-12618209,"DHRS3, RETSDR1","Short-chain dehydrogenase/reductase family, member 3",612830,DHRS3,9249,"ENSG00000162496,ENST00000616661.5",,,,,Dhrs3,
1p36.21,1:13583756-13617956,"PDPN, TI1A, T1A2, GP36, OTS8, AGGRUS",Podoplanin,608863,PDPN,10630,"ENSG00000162493,ENST00000487038.5",,,,,Pdpn,
1p36.13,1:16014028-16019593,"HSPB7, CVHSP",Heat-shock 27kD protein 7,610692,HSPB7,27129,"ENSG00000173641,ENST00000375718.4",,,,,Hspb7,
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
1p36.13,1:16043781-16057325,CLCNKB,"Chloride channel, kidney, B",602023,CLCNKB,1188,"ENSG00000184908,ENST00000375679.8",unequal crossingover with CLCNKA,"Bartter syndrome, type 3",607364,Autosomal recessive,3,Clcnka
1p36.13,1:16043781-16057325,CLCNKB,"Chloride channel, kidney, B",602023,CLCNKB,1188,"ENSG00000184908,ENST00000375679.8",unequal crossingover with CLCNKA,"Bartter syndrome, type 4b, digenic",613090,Digenic recessive,3,Clcnka
1p36.13,1:16197853-16212699,"ARHGEF19, WGEF",RHO guanine nucleotide exchange factor 19,612496,ARHGEF19,128272,"ENSG00000142632,ENST00000270747.8",,,,,Arhgef19,
1p36.13,1:16246839-16352479,"FBXO42, FBX42, KIAA1332",F-box protein 42,609109,FBXO42,54455,"ENSG00000037637,ENST00000375592.8",,,,,Fbxo42,
1p36.13,1:17018721-17054031,"SDHB, SDH2, SDHIP, PGL4","Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)",185470,SDHB,6390,"ENSG00000117118,ENST00000375499.8",1 of 2 polypeptides,Gastrointestinal stromal tumor,606764,Autosomal dominant; Isolated cases,3,Sdhb
1p36.13,1:17018721-17054031,"SDHB, SDH2, SDHIP, PGL4","Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)",185470,SDHB,6390,"ENSG00000117118,ENST00000375499.8",1 of 2 polypeptides,Paraganglioma and gastric stromal sarcoma,606864,,3,Sdhb
1p36.13,1:17018721-17054031,"SDHB, SDH2, SDHIP, PGL4","Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)",185470,SDHB,6390,"ENSG00000117118,ENST00000375499.8",1 of 2 polypeptides,Paragangliomas 4,115310,Autosomal dominant,3,Sdhb
1p36.13,1:17018721-17054031,"SDHB, SDH2, SDHIP, PGL4","Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)",185470,SDHB,6390,"ENSG00000117118,ENST00000375499.8",1 of 2 polypeptides,Pheochromocytoma,171300,Autosomal dominant,3,Sdhb
1p36.13,1:17205124-17246006,PADI1,"Peptidylarginine deiminase, type I",607934,PADI1,29943,"ENSG00000142623,ENST00000375471.5",,,,,Padi1,
1p36.13,1:17249078-17284232,"PADI3, UHS1","Peptidylarginine deiminase, type III",606755,PADI3,51702,"ENSG00000142619,ENST00000375460.3",,Uncombable hair syndrome,191480,Autosomal recessive,3,Padi3
1p36.13,1:17372195-17401698,"PADI6, PREMBL2","Peptidylarginine deiminase, type VI",610363,PADI6,353238,"ENSG00000276747,ENST00000619609.1",,Preimplantation embryonic lethality 2,617234,Autosomal recessive,3,Padi6
1p36.13,1:17513441-17697874,"ARHGEF10L, GRINCHGEF, KIAA1626",RHO guanine nucleotide exchange factor 10-like protein,612494,ARHGEF10L,55160,"ENSG00000074964,ENST00000375415.5",,,,,Arhgef10l,
1p36.13,1:18630845-18748865,"PAX7, RMS2, MYOSCO",Paired box gene 7,167410,PAX7,5081,"ENSG00000009709,ENST00000420770.7",fused with FKHR in rhabdomyosarcoma,"Myopathy, congenital, progressive, with scoliosis",618578,Autosomal recessive,3,Pax7
1p36.13,1:18630845-18748865,"PAX7, RMS2, MYOSCO",Paired box gene 7,167410,PAX7,5081,"ENSG00000009709,ENST00000420770.7",fused with FKHR in rhabdomyosarcoma,"Rhabdomyosarcoma 2, alveolar",268220,Somatic mutation,3,Pax7
1p36.13,1:19596978-19629819,"MICOS10, MINOS1, MIO10, MIC10","Mitochondrial contact site and cristae organizing system, 10kD subunit",616574,MICOS10,440574,"ENSG00000173436,ENST00000322753.7",,,,,Micos10,
1p36.13,1:19920008-19923616,PLA2G2E,"Secretory phospholipase A2, group IIE",618320,PLA2G2E,30814,"ENSG00000188784,ENST00000375116.3",,,,,Pla2g2e,
1p36.13,1:20028348-20091910,"PLA2G5, FRFB","Phospholipase A2, group V",601192,PLA2G5,5322,"ENSG00000127472,ENST00000375108.4",,"[Fleck retina, familial benign]",228980,Autosomal recessive,3,Pla2g5
1p36.12,1:20139322-20150385,PLA2G2F,"Phospholipase A2, group IIf",616793,PLA2G2F,64600,"ENSG00000158786,ENST00000375102.3",,,,,Pla2g2f,
1p36.12,1:20183006-20196049,UBXN10,UBX domain protein 10,616783,UBXN10,127733,"ENSG00000162543,ENST00000375099.4",,,,,Ubxn10,
1p36.12,1:20499447-20508482,"MUL1, MULAN, C1orf166",Mitochondrial ubiquitin ligase activator of NFKB1,612037,MUL1,79594,"ENSG00000090432,ENST00000264198.5",,,,,Mul1,
1p36.12,1:20633457-20651510,"PINK1, PARK6",PTEN-induced putative kinase 1,608309,PINK1,65018,"ENSG00000158828,ENST00000321556.5",,"Parkinson disease 6, early onset",605909,Autosomal recessive,3,Pink1
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
1p36.12,1:21508983-21578411,"ALPL, HOPS, TNSALP","Alkaline phosphatase, liver/bone/kidney",171760,ALPL,249,"ENSG00000162551,ENST00000374840.8",,"Hypophosphatasia, adult",146300,Autosomal dominant; Autosomal recessive,3,Alpl
1p36.12,1:21508983-21578411,"ALPL, HOPS, TNSALP","Alkaline phosphatase, liver/bone/kidney",171760,ALPL,249,"ENSG00000162551,ENST00000374840.8",,"Hypophosphatasia, childhood",241510,Autosomal recessive,3,Alpl
1p36.12,1:21508983-21578411,"ALPL, HOPS, TNSALP","Alkaline phosphatase, liver/bone/kidney",171760,ALPL,249,"ENSG00000162551,ENST00000374840.8",,"Hypophosphatasia, infantile",241500,Autosomal recessive,3,Alpl
1p36.12,1:21508983-21578411,"ALPL, HOPS, TNSALP","Alkaline phosphatase, liver/bone/kidney",171760,ALPL,249,"ENSG00000162551,ENST00000374840.8",,Odontohypophosphatasia,146300,Autosomal dominant; Autosomal recessive,3,Alpl
1p36.12,1:21822243-21937309,"HSPG2, PLC, SJS, SJA, SJS1",Heparan sulfate proteoglycan of basement membrane (perlecan),142461,HSPG2,3339,"ENSG00000142798,ENST00000374695.8",,"Dyssegmental dysplasia, Silverman-Handmaker type",224410,Autosomal recessive,3,Hspg2
1p36.12,1:21822243-21937309,"HSPG2, PLC, SJS, SJA, SJS1",Heparan sulfate proteoglycan of basement membrane (perlecan),142461,HSPG2,3339,"ENSG00000142798,ENST00000374695.8",,"Schwartz-Jampel syndrome, type 1",255800,Autosomal recessive,3,Hspg2
1p36.12,1:22117307-22143980,"WNT4, SERKAL","Wingless-type MMTV integration site family, member 4",603490,WNT4,54361,"ENSG00000162552,ENST00000290167.11",mutation identified in 1 SERKAL family,?SERKAL syndrome,611812,Autosomal recessive,3,Wnt4
1p36.12,1:22117307-22143980,"WNT4, SERKAL","Wingless-type MMTV integration site family, member 4",603490,WNT4,54361,"ENSG00000162552,ENST00000290167.11",mutation identified in 1 SERKAL family,Mullerian aplasia and hyperandrogenism,158330,Autosomal dominant,3,Wnt4
1p36.12,1:22636462-22639677,C1QA,"Complement component 1, q subcomponent, A chain",120550,C1QA,712,"ENSG00000173372,ENST00000402322.1",,C1q deficiency,613652,Autosomal recessive,3,C1qa
1p36.12,1:22643632-22648107,"C1QC, C1QG","Complement component 1, q subcomponent, C chain",120575,C1QC,714,"ENSG00000159189,ENST00000374639.7",,C1q deficiency,613652,Autosomal recessive,3,C1qc
1p36.12,1:22653235-22661636,C1QB,"Complement component 1, q subcomponent, B chain",120570,C1QB,713,"ENSG00000173369,ENST00000432749.6",,C1q deficiency,613652,Autosomal recessive,3,C1qb
1p36.12,1:22710769-22921499,"EPHB2, EPHT3, DRT, ERK, PCBC, CAPB, BDPLT22",eph tyrosine kinase 3 (ephrin receptor EphB2),600997,EPHB2,2048,"ENSG00000133216,ENST00000400191.7",mutation identified in 1 BDPLT22 family,"?Bleeding disorder, platelet-type, 22",618462,Autosomal recessive,3,Ephb2
1p36.12,1:22710769-22921499,"EPHB2, EPHT3, DRT, ERK, PCBC, CAPB, BDPLT22",eph tyrosine kinase 3 (ephrin receptor EphB2),600997,EPHB2,2048,"ENSG00000133216,ENST00000400191.7",mutation identified in 1 BDPLT22 family,"{Prostate cancer/brain cancer susceptibility, somatic}",603688,,3,Ephb2
1p36.12,1:23359447-23369835,"ZNF436, KIAA1710",Zinc finger protein 436,611703,ZNF436,80818,"ENSG00000125945,ENST00000314011.9",,,,,Zfp46,
1p36.12,1:23557925-23559500,ID3,"Inhibitor of DNA binding 3, dominant negative, helix-loop-helix protein",600277,ID3,3399,"ENSG00000117318,ENST00000374561.6",,,,,Id3,
1p36.11,1:23691778-23696834,"RPL11, DBA7",Ribosomal protein L11,604175,RPL11,6135,"ENSG00000142676,ENST00000643754.2",,Diamond-Blackfan anemia 7,612562,Autosomal dominant,3,Rpl11
1p36.11,1:23795598-23800753,GALE,UDP galactose-4-epimerase,606953,GALE,2582,"ENSG00000117308,ENST00000374497.7",,Galactose epimerase deficiency,230350,Autosomal recessive,3,Gale
1p36.11,1:23959163-23963461,PNRC2,Proline-rich nuclear receptor coactivator 2,611882,PNRC2,55629,"ENSG00000189266,ENST00000334351.8",,,,,Pnrc2,
1p36.11,1:24056040-24112134,MYOM3,Myomesin 3,616832,MYOM3,127294,"ENSG00000142661,ENST00000374434.4",,,,,Myom3,
1p36.11,1:24154155-24187294,"IFNLR1, IL28RA","Interferon, lambda receptor 1",607404,IFNLR1,163702,"ENSG00000185436,ENST00000327535.6",,,,,Ifnlr1,
1p36.11,1:24319332-24364481,"GRHL3, SOM, TFCP2L4, VWS2",Grainyhead-like 3,608317,GRHL3,57822,"ENSG00000158055,ENST00000356046.6",,Van der Woude syndrome 2,606713,Autosomal dominant,3,Grhl3
1p36.11,1:24502343-24541039,"RCAN3, DSCR1L2, MCIP3",Regulator of calcineurin 3,605860,RCAN3,11123,"ENSG00000117602,ENST00000610732.4",,,,,Rcan3,
1p36.11,1:24745446-24844320,"CLIC4, MTCLIC",Chloride intracellular channel 4,606536,CLIC4,25932,"ENSG00000169504,ENST00000374379.9",,,,,Clic4,
1p36.11,1:25222275-25232501,"SYF2, P29",SYF2 pre-mRNA splicing factor,607090,SYF2,25949,"ENSG00000117614,ENST00000236273.9",,,,,Syf2,
1p36.11,1:25360658-25430192,"RHCE, RHNA",Rhesus system C and E polypeptides,111700,RHCE,6006,"ENSG00000188672,ENST00000413854.5",?order: C-E-D,"[Blood group, Rhesus]",,,3,Rhd
1p36.11,1:25360658-25430192,"RHCE, RHNA",Rhesus system C and E polypeptides,111700,RHCE,6006,"ENSG00000188672,ENST00000413854.5",?order: C-E-D,"Rh-null disease, amorph type",617970,,3,Rhd
1p36.11,1:25430896-25500208,"TMEM57, FLJ10747",Transmembrane protein 57,610301,MACO1,55219,"ENSG00000204178,ENST00000399766.7",,,,,Maco1,
1p36.11,1:25543587-25590399,"LDLRAP1, ARH, FHCB2, FHCB1, FHCL4",Low density lipoprotein receptor adaptor protein 1,605747,LDLRAP1,26119,"ENSG00000157978,ENST00000374338.5",,"Hypercholesterolemia, familial, 4",603813,Autosomal recessive,3,Ldlrap1
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
1p36.11,1:26051300-26067632,"TRIM63, RNF28, SMRZ, MURF1",Tripartite motif containing 63,606131,TRIM63,84676,"ENSG00000158022,ENST00000374272.3",,,,,Trim63,
1p36.11,1:26109130-26125554,PDIK1L,PDLIM1-interacting kinase 1-like,610785,PDIK1L,149420,"ENSG00000175087,ENST00000619836.4",,,,,Pdik1l,
1p36.11,1:26432320-26471305,"DHDDS, HDS, RP59, DEDSM",Dehydrodolichyl diphosphate synthase,608172,DHDDS,79947,"ENSG00000117682,ENST00000525682.6",mutation identified in 1 CDG1BB patient,"?Congenital disorder of glycosylation, type 1bb",613861,Autosomal recessive,3,Dhdds
1p36.11,1:26432320-26471305,"DHDDS, HDS, RP59, DEDSM",Dehydrodolichyl diphosphate synthase,608172,DHDDS,79947,"ENSG00000117682,ENST00000525682.6",mutation identified in 1 CDG1BB patient,Developmental delay and seizures with or without movement abnormalities,617836,Autosomal dominant,3,Dhdds
1p36.11,1:26432320-26471305,"DHDDS, HDS, RP59, DEDSM",Dehydrodolichyl diphosphate synthase,608172,DHDDS,79947,"ENSG00000117682,ENST00000525682.6",mutation identified in 1 CDG1BB patient,Retinitis pigmentosa 59,613861,Autosomal recessive,3,Dhdds
1p36.11,1:26696014-26782103,"ARID1A, C1orf4, B120, SMARCF1, MRD14, CSS2","AT rich interactive domain 1A, SWI-like",603024,ARID1A,8289,"ENSG00000117713,ENST00000324856.13",,Coffin-Siris syndrome 2,614607,Autosomal dominant,3,Arid1a
1p36.11,1:26863148-26864455,SFN,Stratifin,601290,SFN,2810,"ENSG00000175793,ENST00000339276.6",,,,,Sfn,
1p36.11,1:26900568-26946870,NUDC,"Nuclear distribution C, dynein complex regulator",610325,NUDC,10726,"ENSG00000090273,ENST00000321265.10",,,,,Nudc,
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
1p36.11,1:27355178-27368036,"MAP3K6, MAPKKK6, ASK2",Mitogen-activated protein kinase kinase kinase 6,604468,MAP3K6,9064,"ENSG00000142733,ENST00000374040.7",,,,,Map3k6,
1p36.1-p35.3,1:27534244-27604177,"AHDC1, XIGIS, MRD25",AT-hook DNA-binding motif-containing protein 1,615790,AHDC1,27245,"ENSG00000126705,ENST00000374011.6",,Xia-Gibbs syndrome,615829,Autosomal dominant,3,Ahdc1
1p35.3,1:28147165-28193855,PTAFR,Platelet-activating factor receptor,173393,PTAFR,5724,"ENSG00000169403,ENST00000373857.8",,,,,Ptafr,
1p35.3,1:28236123-28238099,"ATP1F1, IF1",ATPase inhibitory factor 1,614981,ATP5IF1,93974,"ENSG00000130770,ENST00000335514.10",,,,,Atpif1,
1p35.3,1:28369739-28500363,PHACTR4,Phosphatase and actin regulator 4,608726,PHACTR4,65979,"ENSG00000204138,ENST00000373839.8",,,,,Phactr4,
1p35.3,1:28736623-28769774,YTHDF2,YTH N6-methyladenosine RNA-binding protein 2,610640,YTHDF2,51441,"ENSG00000198492,ENST00000541996.5",fused with AML1 in t(1;21),,,,Ythdf2,
1p35.3,1:29192656-29230947,"MECR, NRBF1, DYTOABG",Mitochondrial trans-2-enoyl-CoA reductase,608205,MECR,51102,"ENSG00000116353,ENST00000373791.7",,"Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",617282,Autosomal recessive,3,Mecr
1p35.3,1:29236521-29326801,"PTPRU, GLEPP1, PTPU2","Protein tyrosine phosphatase, receptor type, U",602454,PTPRU,10076,"ENSG00000060656,ENST00000428026.6",,,,,Ptpru,
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
1p35.2,1:31359594-31373617,FABP3,"Fatty acid-binding protein 3, muscle",134651,FABP3,2170,"ENSG00000121769,ENST00000373713.7",,,,,Fabp3,
1p35.2,1:31409776-31434677,SERINC2,Serine incorporator 2,614549,SERINC2,347735,"ENSG00000168528,ENST00000536859.5",,,,,Serinc2,
1p35.2,1:31576383-31587685,"TINAGL1, TINAGRP",Tubulointerstitial nephritis antigen-like protein 1,616064,TINAGL1,64129,"ENSG00000142910,ENST00000457433.6",,,,,Tinagl1,
1p35.2,1:32013867-32060849,"KHDRBS1, SAM68","KH domain-containing, RNA-binding, signal transduction-associated protein 1",602489,KHDRBS1,10657,"ENSG00000121774,ENST00000492989.1",,,,,Khdrbs1,
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
1p35.2,1:32251264-32286164,"LCK, IMD22",Lymphocyte-specific protein tyrosine kinase,153390,LCK,3932,"ENSG00000182866,ENST00000619559.4",LCK/TCRB fusion in leukemia; mutation identified in 1 IMD22 patient,?Immunodeficiency 22,615758,Autosomal recessive,3,Lck
1p35.1,1:32679905-32703595,SYNC1,Syncoilin 1,611750,SYNC,81493,"ENSG00000162520,ENST00000373484.4",,,,,Sync,
1p35.1,1:32775237-32818031,"YARS1, YARS, CMTDIC, TYRRS, YTS, YRS",Tyrosyl-tRNA synthetase 1,603623,YARS1,8565,"ENSG00000134684,ENST00000373477.8",,"Charcot-Marie-Tooth disease, dominant intermediate C",608323,Autosomal dominant,3,Yars
1p35.1,1:32862267-32872483,"FNDC5, FRCP2",Fibronectin type III domain-containing protein 5,611906,FNDC5,252995,"ENSG00000160097,ENST00000496770.1",,,,,Fndc5,
1p35.1,1:33007939-33036882,AK2,"Adenylate kinase-2, mitochondrial",103020,AK2,204,"ENSG00000004455,ENST00000467905.5",,Reticular dysgenesis,267500,Autosomal recessive,3,Ak2
1p35.1,1:33081151-33162287,"AZIN2, ODC1L, KIAA1945",Antizyme inhibitor 2,608353,AZIN2,113451,"ENSG00000142920,ENST00000373443.7",,,,,Azin2,
1p35.1,1:33145398-33184773,"TRIM62, DEAR1",Tripartite motif-containing protein 62,616755,TRIM62,55223,"ENSG00000116525,ENST00000543586.1",,,,,Trim62,
1p34-p32,1:34300000-60800000,MACST,Macrostomia,613545,,100529231,,max lod at D1S2797,Macrostomia,613545,,2,
1p34.3,1:34792957-34795746,"GJA4, CX37","Gap junction protein, alpha-4, 37kD (connexin 37)",121012,GJA4,2701,"ENSG00000187513,ENST00000342280.5",,,,,Gja4,
1p34.3,1:34986164-35031944,"ZMYM6, ZNF258","Zinc finger, MYM-type 6",613567,ZMYM6,9204,"ENSG00000163867,ENST00000357182.9",,,,,Zmym6,
1p34.3,1:35268693-35422057,"ZMYM4, ZNF262, KIAA0425","Zinc finger, MYM-type 4",613568,ZMYM4,9202,"ENSG00000146463,ENST00000457946.1",,,,,Zmym4,
1p34.3,1:36088884-36093931,"ADPRHL2, ARH3, CONDSIAS",ADP-ribosylhydrolase-like 2,610624,ADPRS,54936,"ENSG00000116863,ENST00000373178.5",,"Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",618170,Autosomal recessive,3,Adprhl2
1p34.3,1:36417905-36450484,NOR1,Oxidored-nitro domain-containing protein 1,608854,OSCP1,127700,"ENSG00000116885,ENST00000356637.9",,,,,Oscp1,
1p34.3,1:36466042-36483313,"CSF3R, GCSFR, SCN7",Colony-stimulating factor-3 receptor (granulocyte),138971,CSF3R,1441,"ENSG00000119535,ENST00000373106.5",,"Neutropenia, severe congenital, 7, autosomal recessive",617014,Autosomal recessive,3,Csf3r
1p34.3,1:37474517-37484376,"ZC3H12A, MCPIP, MCPIP1",Zinc finger CCCH domain-containing protein 12A,610562,ZC3H12A,80149,"ENSG00000163874,ENST00000373087.7",,,,,Zc3h12a,
1p34.3,1:37534448-37554292,"SNIP1, PMRED",SMAD nuclear interacting protein 1,608241,SNIP1,79753,"ENSG00000163877,ENST00000296215.8",,"Psychomotor retardation, epilepsy, and craniofacial dysmorphism",614501,Autosomal recessive,3,Snip1
1p34.3,1:37611349-37634905,"RSPO1, FLJ40906",R-spondin 1,609595,RSPO1,284654,"ENSG00000169218,ENST00000401068.1",,Palmoplantar hyperkeratosis and true hermaphroditism,610644,Autosomal recessive,3,Rspo1
1p34.3,1:37611349-37634905,"RSPO1, FLJ40906",R-spondin 1,609595,RSPO1,284654,"ENSG00000169218,ENST00000401068.1",,Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal,610644,Autosomal recessive,3,Rspo1
1p34.3,1:37996764-38005690,"FHL3, SLIM2",Four-and-a-half LIM domains-3,602790,FHL3,2275,"ENSG00000183386,ENST00000485803.5",,,,,Fhl3,
1p34.3,1:38862489-38873377,MYCBP,MYC-binding protein,606535,MYCBP,26292,"ENSG00000214114,ENST00000397572.5",,,,,Mycbp,
1p34.3,1:38874068-38881586,"GJA9, CX59","Gap junction protein, alpha-9",611923,GJA9,81025,"ENSG00000131233,ENST00000357771.5",,,,,,
1p34.3,1:39084166-39487137,"MACF1, ACF7, KIAA1251, LIS9",Microtubule-actin cross-linking factor 1,608271,MACF1,23499,"ENSG00000127603,ENST00000361689.6",,Lissencephaly 9 with complex brainstem malformation,618325,Autosomal dominant,3,
1p34.2,1:39659120-39672037,"NT5C1A, CN1A, CNI, CN1","5'-nucleotidase, cytosolic, IA",610525,NT5C1A,84618,"ENSG00000116981,ENST00000235628.1",,,,,Nt5c1a,
1p34.2,1:39757181-39788864,"BMP8B, OP2",Bone morphogenetic protein-8b (osteogenic protein 2),602284,BMP8B,656,"ENSG00000116985,ENST00000372827.8",,,,,,
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
1p34.2,1:40071460-40097251,"PPT1, CLN1",Palmitoyl-protein thioesterase 1,600722,PPT1,5538,"ENSG00000131238,ENST00000642050.1",,"Ceroid lipofuscinosis, neuronal, 1",256730,Autosomal recessive,3,Ppt1
1p34.2,1:40861053-40862362,CITED4,"CBP/P300-interacting transactivator, with glu/asp-rich carboxy terminal domain, 4",606815,CITED4,163732,"ENSG00000179862,ENST00000372638.4",,,,,Cited4,
1p34.2,1:41027198-41242305,SCMH1,Scm polycomb group protein homolog 1,616396,SCMH1,22955,"ENSG00000010803,ENST00000326197.11",,,,,Scmh1,
1p34.2,1:42153409-42155819,"GUCA2B, UGN",Guanylate cyclase activator 2B (uroguanylin),601271,GUCA2B,2981,"ENSG00000044012,ENST00000372581.2",,,,,Guca2b,
1p34.2,1:42456340-42473416,"PPCS, CMD2C",Phosphopantothenoylcysteine synthetase,609853,PPCS,79717,"ENSG00000127125,ENST00000372562.1",,"Cardiomyopathy, dilated, 2C",618189,Autosomal recessive,3,Ppcs
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,
1p34.2,1:42733092-42740235,"CLDN19, HOMG5",Claudin 19,610036,CLDN19,149461,"ENSG00000164007,ENST00000372539.3",,"Hypomagnesemia 5, renal, with ocular involvement",248190,Autosomal recessive,3,Cldn19
1p34.2,1:42746373-42767027,"P3H1, LEPRE1, GROS1, OI8",Prolyl 3-hydroxylase 1,610339,P3H1,64175,"ENSG00000117385,ENST00000397054.7",,"Osteogenesis imperfecta, type VIII",610915,Autosomal recessive,3,P3h1
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
1p34.2,1:43172329-43254357,WDR65,WD repeat-containing protein 65,614259,CFAP57,149465,"ENSG00000243710,ENST00000610710.4",,,,,Cfap57,
1p34.2,1:43336874-43354465,"MPL, TPOR, MPLV, THCYT2","MPL protooncogene, thrombopoietin receptor",159530,MPL,4352,"ENSG00000117400,ENST00000372470.9",,"Myelofibrosis with myeloid metaplasia, somatic",254450,,3,Mpl
1p34.2,1:43336874-43354465,"MPL, TPOR, MPLV, THCYT2","MPL protooncogene, thrombopoietin receptor",159530,MPL,4352,"ENSG00000117400,ENST00000372470.9",,Thrombocythemia 2,601977,Autosomal dominant; Somatic mutation,3,Mpl
1p34.2,1:43336874-43354465,"MPL, TPOR, MPLV, THCYT2","MPL protooncogene, thrombopoietin receptor",159530,MPL,4352,"ENSG00000117400,ENST00000372470.9",,"Thrombocytopenia, congenital amegakaryocytic",604498,Autosomal recessive,3,Mpl
1p34.2,1:43363400-43368010,"ELOVL1, SSC1, IKSHD",Elongation of very long chain fatty acids-like 1,611813,ELOVL1,64834,"ENSG00000066322,ENST00000621943.4",,"Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies",618527,Autosomal dominant,3,Elovl1
1p34.2,1:43389883-43454246,"SZT2, KIAA0467, EIEE18",SZT2 subunit of KICSTOR complex,615463,SZT2,23334,"ENSG00000198198,ENST00000634258.3",,"Epileptic encephalopathy, early infantile, 18",615476,Autosomal recessive,3,Szt2
1p34.2,1:43522237-43623665,"PTPRF, LAR, BNAH2","Protein tyrosine phosphatase, receptor type, f polypeptide",179590,PTPRF,5792,"ENSG00000142949,ENST00000359947.9",mutation identified in 1 BNAH2 family,"?Breasts and/or nipples, aplasia or hypoplasia of, 2",616001,Autosomal recessive,3,Ptprf
1p34.1-p32,1:43700000-60800000,PTOS1,"Ptosis, congenital 1, autosomal dominant",178300,,5765,,,"Ptosis, hereditary congenital, 1",178300,Autosomal dominant,2,
1p34.1,1:43996482-44031461,"SLC6A9, GLYT1, GCENSG","Solute carrier family 6 (neurotransmitter transporter, glycine), member 9",601019,SLC6A9,6536,"ENSG00000196517,ENST00000372310.7",,Glycine encephalopathy with normal serum glycine,617301,Autosomal recessive,3,Slc6a9
1p34.1,1:44221069-44355297,"PRNPIP, PINT1",Prion protein-interacting protein,609917,ERI3,79033,"ENSG00000117419,ENST00000372257.7",,,,,Eri3,
1p34.1,1:44739703-44767766,"KIF2C, KNSL6, MCAK","Kinesin family, member 2C",604538,KIF2C,11004,"ENSG00000142945,ENST00000372217.5",,,,,Kif2c,
1p34.1,1:44819844-44843252,PTCH2,Patched 2,603673,PTCH2,8643,"ENSG00000117425,ENST00000447098.6",,"Basal cell carcinoma, somatic",605462,,3,Ptch2
1p34.1,1:44819844-44843252,PTCH2,Patched 2,603673,PTCH2,8643,"ENSG00000117425,ENST00000447098.6",,Basal cell nevus syndrome,109400,Autosomal dominant,3,Ptch2
1p34.1,1:44819844-44843252,PTCH2,Patched 2,603673,PTCH2,8643,"ENSG00000117425,ENST00000447098.6",,"Medulloblastoma, somatic",155255,,3,Ptch2
1p34.1,1:44850521-44986640,EIF2B3,"Eukaryotic translation initiation factor 2B, subunit 3",606273,EIF2B3,8891,"ENSG00000070785,ENST00000372183.7",,Leukoencephalopathy with vanishing white matter,603896,Autosomal recessive,3,Eif2b3
1p34.1,1:45012253-45015574,UROD,Uroporphyrinogen decarboxylase,613521,UROD,7389,"ENSG00000126088,ENST00000246337.9",,Porphyria cutanea tarda,176100,Autosomal dominant; Autosomal recessive,3,Urod
1p34.1,1:45012253-45015574,UROD,Uroporphyrinogen decarboxylase,613521,UROD,7389,"ENSG00000126088,ENST00000246337.9",,"Porphyria, hepatoerythropoietic",176100,Autosomal dominant; Autosomal recessive,3,Urod
1p34.1,1:45326894-45328678,"HPDL, NEDSWMA, SPG83",4-hydroxyphenylpyruvate dioxygenase-like,618994,HPDL,84842,"ENSG00000186603,ENST00000334815.5",,Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities,619026,,3,Hpdl
1p34.1,1:45326894-45328678,"HPDL, NEDSWMA, SPG83",4-hydroxyphenylpyruvate dioxygenase-like,618994,HPDL,84842,"ENSG00000186603,ENST00000334815.5",,"Spastic paraplegia 83, autosomal recessive",619027,,3,Hpdl
1p34.1,1:45500228-45513381,MMACHC,Metabolism of cobalamin associated C,609831,MMACHC,25974,"ENSG00000132763,ENST00000616135.1",,"Methylmalonic aciduria and homocystinuria, cblC type",277400,Autosomal recessive,3,Mmachc
1p34.1,1:45511050-45522889,"PRDX1, PRXI, PAGA, NKEFA",Peroxiredoxin 1,176763,PRDX1,5052,"ENSG00000117450,ENST00000424390.1",pseudogene PAGB on 9p22,"Methylmalonic aciduria and homocystinuria, cblC type, digenic",277400,Autosomal recessive,3,Prdx1
1p34.1,1:45786991-46036123,"MAST2, MAST205, KIAA0807",Microtubule-associated serine/threonine kinase 2,612257,MAST2,23139,"ENSG00000086015,ENST00000361297.7",,,,,Mast2,
1p34.1,1:46247687-46278476,"RAD54L, HR54, HRAD54",RAD54 like,603615,RAD54L,8438,"ENSG00000085999,ENST00000442598.5",,"{Breast cancer, invasive ductal}",114480,Autosomal dominant; Somatic mutation,3,Rad54l
1p34.1,1:46247687-46278476,"RAD54L, HR54, HRAD54",RAD54 like,603615,RAD54L,8438,"ENSG00000085999,ENST00000442598.5",,"Adenocarcinoma, colonic, somatic",,,3,Rad54l
1p34.1,1:46247687-46278476,"RAD54L, HR54, HRAD54",RAD54 like,603615,RAD54L,8438,"ENSG00000085999,ENST00000442598.5",,"Lymphoma, non-Hodgkin, somatic",605027,,3,Rad54l
1p34-p33,1:46277461-46303615,"LRRC41, MUF1",Leucine-rich repeat-containing protein 41,618753,LRRC41,10489,"ENSG00000132128,ENST00000617190.4",,,,,Lrrc41,
1p33,1:46303697-46316775,UQCRH,Ubiquinol-cytochrome c reductase hinge protein,613844,UQCRH,7388,"ENSG00000173660,ENST00000311672.10",pseudogene on 1p36,,,,Uqcrh-ps1,
1p33,1:46394316-46413844,FAAH,Fatty acid amide hydrolase,602935,FAAH,2166,"ENSG00000117480,ENST00000243167.9",,"{Drug addiction, susceptibility to}",606581,,3,Faah
1p33,1:46545640-46551646,"KNCN, KINO, L5",Kinocilin,611455,KNCN,148930,"ENSG00000162456,ENST00000396314.3",,,,,Kncn,
1p33,1:46799045-46819412,CYP4B1,"Cytochrome P450, subfamily IVB, polypeptide 1",124075,CYP4B1,1580,"ENSG00000142973,ENST00000271153.8",,,,,Cyp4b1,
1p33,1:46929176-46941475,CYP4A11,"Cytochrome P450, subfamily IVA, polypeptide 11",601310,CYP4A11,1579,"ENSG00000187048,ENST00000310638.9",,,,,"Cyp4a10,Cyp4a32,Cyp4a31",
1p33,1:47216289-47232388,"TAL1, TCL5, SCL",T-cell acute lymphocytic leukemia-1,187040,TAL1,6886,"ENSG00000162367,ENST00000371884.6",proximal to MYCL1,"Leukemia, T-cell acute lymphocytic, somatic",613065,,3,Tal1
1p33,1:47250138-47314895,"STIL, SIL, MCPH7",SCL/TAL1-interrupting locus,181590,STIL,6491,"ENSG00000123473,ENST00000371877.7",within about 250kb of SCL,"Microcephaly 7, primary, autosomal recessive",612703,Autosomal recessive,3,Stil
1p33,1:47416284-47418051,"FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11",Forkhead box E3,601094,FOXE3,2301,"ENSG00000186790,ENST00000335071.4",,"{Aortic aneurysm, familial thoracic 11, susceptibility to}",617349,Autosomal dominant,3,
1p33,1:47416284-47418051,"FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11",Forkhead box E3,601094,FOXE3,2301,"ENSG00000186790,ENST00000335071.4",,"Anterior segment dysgenesis 2, multiple subtypes",610256,Autosomal recessive,3,
1p33,1:47416284-47418051,"FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11",Forkhead box E3,601094,FOXE3,2301,"ENSG00000186790,ENST00000335071.4",,"Cataract 34, multiple types",612968,,3,
1p32.3,1:50437027-50960266,"FAF1, HFAF1",Fas-associated factor 1,604460,FAF1,11124,"ENSG00000185104,ENST00000396153.7",,,,,Faf1,
1p32.3,1:51236272-51273446,RNF11,Ring finger protein 11,612598,RNF11,26994,"ENSG00000123091,ENST00000242719.4",,,,,Rnf11,
1p32.3,1:51617083-51789218,"OSBPL9, ORP9",Oxysterol-binding protein-like protein 9,606737,OSBPL9,114883,"ENSG00000117859,ENST00000531828.5",,,,,Osbpl9,
1p32.3,1:51789209-51878726,NRD1,Nardilysin (N-arginine dibasic convertase),602651,NRDC,4898,"ENSG00000078618,ENST00000352171.11",,,,,Nrd1,
1p32.3,1:52372828-52404445,"ORC1, ORC1L","Origin recognition complex, subunit 1",601902,ORC1,4998,"ENSG00000085840,ENST00000371566.1",,Meier-Gorlin syndrome 1,224690,Autosomal recessive,3,Orc1
1p32.3,1:53196823-53214196,"CPT2, IIAE4",Carnitine palmitoyltransferase II,600650,CPT2,1376,"ENSG00000157184,ENST00000371486.4",formerly at 1p13,"{Encephalopathy, acute, infection-induced, 4, susceptibility to}",614212,Autosomal dominant; Autosomal recessive,3,Cpt2
1p32.3,1:53196823-53214196,"CPT2, IIAE4",Carnitine palmitoyltransferase II,600650,CPT2,1376,"ENSG00000157184,ENST00000371486.4",formerly at 1p13,"CPT II deficiency, infantile",600649,Autosomal recessive,3,Cpt2
1p32.3,1:53196823-53214196,"CPT2, IIAE4",Carnitine palmitoyltransferase II,600650,CPT2,1376,"ENSG00000157184,ENST00000371486.4",formerly at 1p13,"CPT II deficiency, lethal neonatal",608836,Autosomal recessive,3,Cpt2
1p32.3,1:53196823-53214196,"CPT2, IIAE4",Carnitine palmitoyltransferase II,600650,CPT2,1376,"ENSG00000157184,ENST00000371486.4",formerly at 1p13,"CPT II deficiency, myopathic, stress-induced",255110,Autosomal dominant; Autosomal recessive,3,Cpt2
1p32.3,1:54548227-54639191,"ACOT11, THEA, BFIT, BFIT1, BFIT2, KIAA0707",Acyl-CoA thioesterase 11,606803,ACOT11,26027,"ENSG00000162390,ENST00000371316.3",,,,,Acot11,
1p32.3,1:54756897-54764522,"PARS2, EIEE75",Prolyl-tRNA synthetase 2,612036,PARS2,25973,"ENSG00000162396,ENST00000371279.4",,"Epileptic encephalopathy, early infantile, 75",618437,Autosomal recessive,3,Pars2
1p32.3,1:54849626-54887194,"DHCR24, KIAA0018",24-dehydrocholesterol reductase,606418,DHCR24,1718,"ENSG00000116133,ENST00000371269.9",,Desmosterolosis,602398,Autosomal recessive,3,Dhcr24
1p32.3,1:54998932-55017171,BSND,Barttin,606412,BSND,7809,"ENSG00000162399,ENST00000651561.1",,"Bartter syndrome, type 4a",602522,Autosomal recessive,3,Bsnd
1p32.3,1:54998932-55017171,BSND,Barttin,606412,BSND,7809,"ENSG00000162399,ENST00000651561.1",,Sensorineural deafness with mild renal dysfunction,602522,Autosomal recessive,3,Bsnd
1p32.3,1:55039547-55064851,"PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1, FHCL3","Proprotein convertase, subtilisin/kexin-type, 9",607786,PCSK9,255738,"ENSG00000169174,ENST00000302118.5",,{Low density lipoprotein cholesterol level QTL 1},603776,Autosomal dominant,3,Pcsk9
1p32.3,1:55039547-55064851,"PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1, FHCL3","Proprotein convertase, subtilisin/kexin-type, 9",607786,PCSK9,255738,"ENSG00000169174,ENST00000302118.5",,"Hypercholesterolemia, familial, 3",603776,Autosomal dominant,3,Pcsk9
1p32.3,1:55066358-55215373,"USP24, KIAA1057",Ubiquitin-specific protease 24,610569,USP24,23358,"ENSG00000162402,ENST00000294383.7",,,,,Usp24,
1p32.2,1:56718788-56831985,"FYB2, ARAP, C1orf168",FYN-binding protein 2,618478,FYB2,199920,"ENSG00000187889,ENST00000343433.7",,,,,Fyb2,
1p32.2-p32.1,1:56994777-58546725,"DAB1, SCA37",DAB adaptor protein 1,603448,DAB1,1600,"ENSG00000173406,ENST00000371236.6",,Spinocerebellar ataxia 37,615945,Autosomal dominant,3,Dab1
1p32.2-p32.1,1:58480718-58546725,"OMA1, MPRP1",OMA1 zinc metallopeptidase,617081,OMA1,115209,"ENSG00000162600,ENST00000371226.8",,,,,Oma1,
1p32.1,1:58654738-58700090,"MYSM1, 2ADUB, KIAA1915, BMFS4","MYB-like, SWIRM, and MPN domains-containing protein 1",612176,MYSM1,114803,"ENSG00000162601,ENST00000472487.6",,Bone marrow failure syndrome 4,618116,Autosomal recessive,3,Mysm1
1p32.1,1:59893307-59926772,CYP2J2,"Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase), polypeptide 2",601258,CYP2J2,1573,"ENSG00000134716,ENST00000371204.4",,,,,Cyp2j6,
1p31-p21,1:60800000-106700000,"AVSD1, AVCD","Atrioventricular septal defect, susceptibility to, 1",606215,,7446,,,"{Atrioventricular septal defect, susceptibility to, 1}",606215,,2,
1p31.3,1:61077226-61462787,"NFIA, BRMUTD",Nuclear factor I/A,600727,NFIA,4774,"ENSG00000162599,ENST00000403491.8",,Brain malformations with or without urinary tract defects,613735,Autosomal dominant,3,Nfia
1p31.3,1:61742476-62163914,"PATJ, INADL",PALS1-associated tight junction protein,603199,PATJ,10207,"ENSG00000132849,ENST00000642238.1",,,,,Patj,
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
1p31.3,1:63367626-63438552,"ALG6, CDG1C","ALG6 alpha-1,3-glucosyltransferase",604566,ALG6,29929,"ENSG00000088035,ENST00000263440.6",,"Congenital disorder of glycosylation, type Ic",603147,Autosomal recessive,3,Alg6
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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 5,792 entries which exceeded the maximum of 200 so the results were truncated",,,,,,,,,,,,,
"You can register for MIMmatch ( https://omim.org/mimmatch/ ) to raise this limit to 1,000",,,,,,,,,,,,,
You can register for downloads ( https://omim.org/downloads ) and/or the API ( https://omim.org/api ) for more search/download options,,,,,,,,,,,,,