GeneChromosomeCyto LocationPhenotypes
AAASchr1212q13Achalasia-addisonianism-alacrimia syndrome, 231550 (3), Autosomal recessive
AARSchr1616q22.1Developmental and epileptic encephalopathy 29
AARS2chr66p21.1Combined oxidative phosphorylation deficiency 8, 614096 (3), Autosomal recessive; Leukoencephalopathy, progressive, with ovarian failure, 615889 (3), Autosomal recessive
AASSchr77q31.3Hyperlysinemia, 238700 (3), Autosomal recessive
ABATchr1616p13.3GABA-transaminase deficiency, 613163 (3), Autosomal recessive
ABCA1chr99q22-q31HDL deficiency, familial, 1, 604091 (3); Tangier disease, 205400 (3), Autosomal recessive
ABCA12chr22q34Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3), Autosomal recessive; Ichthyosis, congenital, autosomal recessive 4A, 601277 (3), Autosomal recessive
ABCA2chr99q34Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 (3), Autosomal recessive
ABCA3chr1616p13.3Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3), Autosomal recessive
ABCA4chr11p22.1Retinal dystrophy, early-onset severe, 248200 (3), Autosomal recessive; Stargardt disease 1, 248200 (3), Autosomal recessive; Fundus flavimaculatus, 248200 (3), Autosomal recessive; {Macular degeneration, age-related, 2}, 153800 (3), Autosomal dominant; Cone-rod dystrophy 3, 604116 (3); Retinitis pigmentosa 19, 601718 (3), Autosomal recessive
ABCA5chr1717q24.2?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3), Autosomal recessive
ABCB11chr22q24Cholestasis, progressive familial intrahepatic 2, 601847 (3), Autosomal recessive; Cholestasis, benign recurrent intrahepatic, 2, 605479 (3), Autosomal recessive
ABCB4chr77q21.1Gallbladder disease 1, 600803 (3), Autosomal recessive, Autosomal dominant; Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3), Autosomal recessive, Autosomal dominant; Cholestasis, progressive familial intrahepatic 3, 602347 (3), Autosomal recessive
ABCB7chrXXq13.1-q13.3Anemia, sideroblastic, with ataxia, 301310 (3), X-linked recessive
ABCC2chr1010q24Dubin-Johnson syndrome, 237500 (3), Autosomal recessive
ABCC6chr1616p13.1Pseudoxanthoma elasticum, 264800 (3), Autosomal recessive; Pseudoxanthoma elasticum, forme fruste, 177850 (3), Autosomal dominant; Arterial calcification, generalized, of infancy, 2, 614473 (3), Autosomal recessive
ABCC8chr1111p15.1Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, 618857 (3), Autosomal recessive, Autosomal dominant; Diabetes mellitus, transient neonatal 2, 610374 (3); Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3), Autosomal recessive, Autosomal dominant; Hypoglycemia of infancy, leucine-sensitive, 240800 (3), Autosomal dominant
ABCD1chrXXq28Adrenomyeloneuropathy, adult, 300100 (3), X-linked recessive; Adrenoleukodystrophy, 300100 (3), X-linked recessive
ABCD3chr11p22-p21?Bile acid synthesis defect, congenital, 5, 616278 (3), Autosomal recessive
ABCD4chr1414q24.3Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3), Autosomal recessive
ABCG5chr2
ABCG8chr22p21{Gallbladder disease 4}, 611465 (3); Sitosterolemia 1, 210250 (3), Autosomal recessive
ABHD12chr2020p11.21Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3), Autosomal recessive
ABHD5chr33p21Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive
ACACAchr1717q21Acetyl-CoA carboxylase deficiency, 613933 (1), Autosomal recessive
ACAD8chr1111q25Isobutyryl-CoA dehydrogenase deficiency, 611283 (3), Autosomal recessive
ACAD9chr33q26Mitochondrial complex I deficiency, nuclear type 20, 611126 (3), Autosomal recessive
ACADLchr2
ACADMchr11p31Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3), Autosomal recessive
ACADSchr1212q22-qterAcyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3), Autosomal recessive
ACADSBchr1010q25-q262-methylbutyrylglycinuria, 610006 (3), Autosomal recessive
ACADVLchr1717p13VLCAD deficiency, 201475 (3), Autosomal recessive
ACANchr1515q26.1Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3), Autosomal recessive; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3), Autosomal dominant
ACAT1chr1111q22.3-q23.1Alpha-methylacetoacetic aciduria, 203750 (3), Autosomal recessive
ACBD5chr1010p12.1Retinal dystrophy with leukodystrophy, 618863 (3), Autosomal recessive
ACEchr1717q23Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Myocardial infarction, susceptibility to} (3); {Microvascular complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3); {SARS, progression of} (3); {Stroke, hemorrhagic}, 614519 (3)
ACO2chr2222q13.2Infantile cerebellar-retinal degeneration, 614559 (3), Autosomal recessive; ?Optic atrophy 9, 616289 (3), Autosomal recessive
ACOX1chr1717q25.1Mitchell syndrome, 618960 (3); Peroxisomal acyl-CoA oxidase deficiency, 264470 (3), Autosomal recessive
ACP2chr1111p11.2?Lysosomal acid phosphatase deficiency, 200950 (1), Autosomal recessive
ACP5chr1919p13.3-p13.1Spondyloenchondrodysplasia with immune dysregulation, 607944 (3), Autosomal recessive
ACSF3chr1616q24.3Acyl-CoA synthetase family member 3
ACSL4chrXXq22.3Mental retardation, X-linked 63, 300387 (3), X-linked dominant
ACTA1chr11q42.1Myopathy, actin, congenital, with cores, 161800 (3), Autosomal recessive, Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion 1, 255310 (3), Autosomal recessive, Autosomal dominant; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal recessive, Autosomal dominant; ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant
ACY1chr33p21.1Aminoacylase 1 deficiency, 609924 (3), Autosomal recessive
ADAchr2020q13.11Adenosine deaminase deficiency, partial, 102700 (3), Somatic mosaicism, Autosomal recessive; Severe combined immunodeficiency due to ADA deficiency, 102700 (3), Somatic mosaicism, Autosomal recessive
ADA2chr2222q11.2Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 (3), Autosomal recessive; ?Sneddon syndrome, 182410 (3), Autosomal recessive
ADAM17chr22p25?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3), Autosomal recessive
ADAM22chr77q21?Epileptic encephalopathy, early infantile, 61, 617933 (3), Autosomal recessive
ADAM9chr88p11.23Cone-rod dystrophy 9, 612775 (3), Autosomal recessive
ADAMTS10chr1919p13.3-p13.2Weill-Marchesani syndrome 1, recessive, 277600 (3), Autosomal recessive
ADAMTS13chr99q34Thrombotic thrombocytopenic purpura, hereditary, 274150 (3), Autosomal recessive
ADAMTS17chr1515q24Weill-Marchesani 4 syndrome, recessive, 613195 (3), Autosomal recessive
ADAMTS18chr1616q23Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3), Autosomal recessive
ADAMTS2chr55q23Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3), Autosomal recessive
ADAMTSL2chr99q34.2Geleophysic dysplasia 1, 231050 (3), Autosomal recessive
ADAMTSL4chr11q21Ectopia lentis et pupillae, 225200 (3), Autosomal recessive; Ectopia lentis, isolated, autosomal recessive, 225100 (3), Autosomal recessive
ADARchr11q21.3Dyschromatosis symmetrica hereditaria, 127400 (3), Autosomal dominant; Aicardi-Goutieres syndrome 6, 615010 (3), Autosomal recessive
ADARB1chr2121q22.3Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 (3), Autosomal recessive
ADCY1chr77p13-p12?Deafness, autosomal recessive 44, 610154 (3), Autosomal recessive
ADCY3chr22p24-p22{Obesity, susceptibility to, BMIQ19}, 617885 (3), Autosomal recessive
ADCY6chr1212q12-q13?Lethal congenital contracture syndrome 8, 616287 (3), Autosomal recessive
ADGRG1chr1616q13Polymicrogyria, bilateral perisylvian, 615752 (3); Polymicrogyria, bilateral frontoparietal, 606854 (3), Autosomal recessive
ADGRV1chr55q14.3Usher syndrome, type 2C, 605472 (3), Digenic dominant, Autosomal recessive; ?Febrile seizures, familial, 4, 604352 (3), Autosomal dominant; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3), Digenic dominant, Autosomal recessive
ADKchr1010q11-q24Hypermethioninemia due to adenosine kinase deficiency, 614300 (3), Autosomal recessive
ADRB2chr55q32-q34{Asthma, nocturnal, susceptibility to}, 600807 (3), Autosomal dominant; {Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Beta-2-adrenoreceptor agonist, reduced response to (3)
ADRB3chr88p12-p11.2{Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant
ADSLchr2222q13.1Adenylosuccinase deficiency, 103050 (3), Autosomal recessive
AEBP1chr77p13Ehlers-Danlos syndrome, classic-like, 2, 618000 (3), Autosomal recessive
AFF2chrXXq28Mental retardation, X-linked, FRAXE type, 309548 (3), X-linked recessive
AFG3L2chr1818p11Spastic ataxia 5, autosomal recessive, 614487 (3), Autosomal recessive; Optic atrophy 12, 618977 (3); Spinocerebellar ataxia 28, 610246 (3), Autosomal dominant
AFPchr44q11-q13Alpha-fetoprotein deficiency, 615969 (3), Autosomal recessive; [Hereditary persistence of alpha-fetoprotein], 615970 (3), Autosomal dominant
AGAchr44q32-q33Aspartylglucosaminuria, 208400 (3), Autosomal recessive
AGKchr77q34Sengers syndrome, 212350 (3), Autosomal recessive; Cataract 38, autosomal recessive, 614691 (3), Autosomal recessive
AGLchr11p21Glycogen storage disease IIIb, 232400 (3), Autosomal recessive; Glycogen storage disease IIIa, 232400 (3), Autosomal recessive
AGPAT2chr99q34.3Lipodystrophy, congenital generalized, type 1, 608594 (3), Autosomal recessive
AGPSchr22q31Rhizomelic chondrodysplasia punctata, type 3, 600121 (3), Autosomal recessive
AGRNchr11pter-p32Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3), Autosomal recessive
AGRPchr1616q22{Obesity, late-onset}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; {Leanness, inherited}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant
AGTchr11q42-q43{Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial
AGTPBP1chr99q21.33Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3), Autosomal recessive
AGTR1chr33q21-q25Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Hypertension, essential}, 145500 (3), Multifactorial
AGTR2chrXXq23
AGXTchr22q36-q37Hyperoxaluria, primary, type 1, 259900 (3), Autosomal recessive
AGXT2chr55p13[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3), Autosomal recessive
AHCYchr2020cen-q13.1Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3), Autosomal recessive
AHI1chr66q23.3Joubert syndrome 3, 608629 (3), Autosomal recessive
AHRchr77p15?Retinitis pigmentosa 85, 618345 (3), Autosomal recessive
AHSGchr33q27?Alopecia-mental retardation syndrome 1, 203650 (3), Autosomal recessive
AICDAchr1212p13Immunodeficiency with hyper-IgM, type 2, 605258 (3), Autosomal recessive
AIFM1chrXXq26.1Cowchock syndrome, 310490 (3), X-linked recessive; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 (3), X-linked recessive; Combined oxidative phosphorylation deficiency 6, 300816 (3), X-linked recessive; Deafness, X-linked 5, 300614 (3), X-linked recessive
AIMP1chr44q24Leukodystrophy, hypomyelinating, 3, 260600 (3), Autosomal recessive
AIPL1chr1717p13.1Leber congenital amaurosis 4, 604393 (3), Autosomal recessive, Autosomal dominant; Retinitis pigmentosa, juvenile, 604393 (3), Autosomal recessive, Autosomal dominant; Cone-rod dystrophy, 604393 (3), Autosomal recessive, Autosomal dominant
AIREchr2121q22.3Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3), Autosomal recessive, Autosomal dominant
AK1chr99q34.1Hemolytic anemia due to adenylate kinase deficiency, 612631 (3), Autosomal recessive
AK2chr11p34Reticular dysgenesis, 267500 (3), Autosomal recessive
AK7chr1414q32.2?Spermatogenic failure 27, 617965 (3), Autosomal recessive
AKR1C2chr1010p15-p1446XY sex reversal 8, 614279 (3), Autosomal recessive
AKR1C4chr1010p15-p14{46XY sex reversal 8, modifier of}, 614279 (3), Autosomal recessive
AKR1D1chr77q32-q33Bile acid synthesis defect, congenital, 2, 235555 (3), Autosomal recessive
ALADchr99q34Porphyria, acute hepatic, 612740 (3), Autosomal recessive; {Lead poisoning, susceptibility to}, 612740 (3), Autosomal recessive
ALAS2chrXXp11.21Protoporphyria, erythropoietic, X-linked, 300752 (3), X-linked; Anemia, sideroblastic, 1, 300751 (3), X-linked recessive
ALDH18A1chr1010q24.3Cutis laxa, autosomal recessive, type IIIA, 219150 (3), Autosomal recessive; Cutis laxa, autosomal dominant 3, 616603 (3), Autosomal dominant; Spastic paraplegia 9B, autosomal recessive, 616586 (3), Autosomal recessive; Spastic paraplegia 9A, autosomal dominant, 601162 (3), Autosomal dominant
ALDH1A3chr1515q26Microphthalmia, isolated 8, 615113 (3), Autosomal recessive
ALDH3A2chr1717p11.2Sjogren-Larsson syndrome, 270200 (3), Autosomal recessive
ALDH4A1chr11p36Hyperprolinemia, type II, 239510 (3), Autosomal recessive
ALDH5A1chr66p22Succinic semialdehyde dehydrogenase deficiency, 271980 (3), Autosomal recessive
ALDH6A1chr1414q24.3Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3), Autosomal recessive
ALDH7A1chr55q31Epilepsy, pyridoxine-dependent, 266100 (3), Autosomal recessive
ALDOAchr1616p11.2Glycogen storage disease XII, 611881 (3), Autosomal recessive
ALDOBchr99q22.3Fructose intolerance, hereditary, 229600 (3), Autosomal recessive
ALG1chr1616p13.3Congenital disorder of glycosylation, type Ik, 608540 (3), Autosomal recessive
ALG11chr1313q14.3Congenital disorder of glycosylation, type Ip, 613661 (3), Autosomal recessive
ALG12chr2222q13.33Congenital disorder of glycosylation, type Ig, 607143 (3), Autosomal recessive
ALG14chr11p21.3?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3), Autosomal recessive
ALG2chr99q22Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3), Autosomal recessive; ?Congenital disorder of glycosylation, type Ii, 607906 (3), Autosomal recessive
ALG3chr33q27Congenital disorder of glycosylation, type Id, 601110 (3), Autosomal recessive
ALG6chr11p22.3Congenital disorder of glycosylation, type Ic, 603147 (3), Autosomal recessive
ALG8chr1111pter-p15.5Congenital disorder of glycosylation, type Ih, 608104 (3), Autosomal recessive; Polycystic liver disease 3 with or without kidney cysts, 617874 (3), Autosomal dominant
ALG9chr1111q23Gillessen-Kaesbach- Nishimura syndrome, 263210 (3), Autosomal recessive; Congenital disorder of glycosylation, type Il, 608776 (3), Autosomal recessive
ALMS1chr22p13Alstrom syndrome, 203800 (3), Autosomal recessive
ALOX12Bchr1717p13.1Ichthyosis, congenital, autosomal recessive 2, 242100 (3), Autosomal recessive
ALOXE3chr1717p13.1Ichthyosis, congenital, autosomal recessive 3, 606545 (3), Autosomal recessive
ALPLchr11p36.1-p34Hypophosphatasia, adult, 146300 (3), Autosomal recessive, Autosomal dominant; Odontohypophosphatasia, 146300 (3), Autosomal recessive, Autosomal dominant; Hypophosphatasia, childhood, 241510 (3), Autosomal recessive; Hypophosphatasia, infantile, 241500 (3), Autosomal recessive
ALS2chr22q33Primary lateral sclerosis, juvenile, 606353 (3), Autosomal recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100 (3), Autosomal recessive; Spastic paralysis, infantile onset ascending, 607225 (3), Autosomal recessive
ALX1chr1212q21.3-q22Frontonasal dysplasia 3, 613456 (3), Autosomal recessive
ALX3chr11p21-p13Frontonasal dysplasia 1, 136760 (3), Autosomal recessive
ALX4chr1111p11.2Frontonasal dysplasia 2, 613451 (3), Autosomal recessive; Parietal foramina 2, 609597 (3), Autosomal dominant; {Craniosynostosis 5, susceptibility to}, 615529 (3), Autosomal dominant
AMACRchr55p13.2-q11.1Bile acid synthesis defect, congenital, 4, 214950 (3), Autosomal recessive; Alpha-methylacyl-CoA racemase deficiency, 614307 (3), Autosomal recessive
AMBNchr44q21Amelogenesis imperfecta, type IF, 616270 (3), Autosomal recessive
AMHchr1919p13.3-p13.2Persistent Mullerian duct syndrome, type I, 261550 (3), Autosomal recessive
AMHR2chr1212q13Persistent Mullerian duct syndrome, type II, 261550 (3), Autosomal recessive
AMNchr1414q32Imerslund-Grasbeck syndrome 2, 618882 (3), Autosomal recessive
AMPD1chr11p21-p13Myopathy due to myoadenylate deaminase deficiency, 615511 (3), Autosomal recessive
AMPD2chr11p13.3?Spastic paraplegia 63, 615686 (3), Autosomal recessive; Pontocerebellar hypoplasia, type 9, 615809 (3), Autosomal recessive
AMPD3chr1111pter-p13[AMP deaminase deficiency, erythrocytic], 612874 (3), Autosomal recessive
AMTchr33p21.2-p21.1Glycine encephalopathy, 605899 (3), Autosomal recessive
ANAPC1chr22q13Rothmund-Thomson syndrome, type 1, 618625 (3), Autosomal recessive
ANGPTL3chr11p31Hypobetalipoproteinemia, familial, 2, 605019 (3), Autosomal recessive
ANK1chr88p11.2Spherocytosis, type 1, 182900 (3), Autosomal recessive, Autosomal dominant
ANK3chr1010q21Mental retardation, autosomal recessive, 37, 615493 (3), Autosomal recessive
ANKLE2chr1212q24.33Microcephaly 16, primary, autosomal recessive, 616681 (3), Autosomal recessive
ANKS6chr99q22.33Nephronophthisis 16, 615382 (3), Autosomal recessive
ANO10chr33p22.1Spinocerebellar ataxia, autosomal recessive 10, 613728 (3), Autosomal recessive
ANO5chr1111p14.3Miyoshi muscular dystrophy 3, 613319 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3), Autosomal recessive; Gnathodiaphyseal dysplasia, 166260 (3), Autosomal dominant
ANO6chr1212q12Scott syndrome, 262890 (3), Autosomal recessive
ANOS1chrXXp22.31Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3), X-linked recessive
ANTXR1chr22p13.1GAPO syndrome, 230740 (3), Autosomal recessive; {?Hemangioma, capillary infantile, susceptibility to}, 602089 (3), Autosomal dominant
ANTXR2chr44q21Hyaline fibromatosis syndrome, 228600 (3), Autosomal recessive
AP1S1chr77q22.1MEDNIK syndrome, 609313 (3), Autosomal recessive
AP1S2chrXXp22Mental retardation, X-linked syndromic 5, 304340 (3), X-linked recessive
AP3B1chr55q14.1Hermansky-Pudlak syndrome 2, 608233 (3), Autosomal recessive
AP3B2chr1515q25.2Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive
AP3D1chr1919p13.3?Hermansky-Pudlak syndrome 10, 617050 (3), Autosomal recessive
AP4B1chr11p13.2Spastic paraplegia 47, autosomal recessive, 614066 (3), Autosomal recessive
AP4E1chr1515q21.2Stuttering, familial persistent, 1, 184450 (3), Autosomal dominant; Spastic paraplegia 51, autosomal recessive, 613744 (3), Autosomal recessive
AP4M1chr77q22.1Spastic paraplegia 50, autosomal recessive, 612936 (3), Autosomal recessive
AP4S1chr1414q12Spastic paraplegia 52, autosomal recessive, 614067 (3), Autosomal recessive
AP5Z1chr77p22.1Spastic paraplegia 48, autosomal recessive, 613647 (3), Autosomal recessive
APC2chr1919p13.3?Sotos syndrome 3, 617169 (3), Autosomal recessive; Cortical dysplasia, complex, with other brain malformations 10, 618677 (3), Autosomal recessive
APOBchr22p24Hypobetalipoproteinemia, 615558 (3), Autosomal recessive; Hypercholesterolemia, familial, 2, 144010 (3), Autosomal dominant
APOC2chr1919q13.2Hyperlipoproteinemia, type Ib, 207750 (3), Autosomal recessive
APOEchr1919q13.2Hyperlipoproteinemia, type III, 617347 (3); {Coronary artery disease, severe, susceptibility to}, 617347 (3); {?Alzheimer disease, protection against, due to APOE3-Christchurch}, 607822 (3), Autosomal dominant; Lipoprotein glomerulopathy, 611771 (3); Sea-blue histiocyte disease, 269600 (3), Autosomal recessive; {?Macular degeneration, age-related}, 603075 (3), Autosomal dominant; Alzheimer disease 2, 104310 (3), Autosomal dominant
APOPT1chr1414q32.33Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive
APRTchr1616q24.3Adenine phosphoribosyltransferase deficiency, 614723 (3), Autosomal recessive
APTXchr99p13.3Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3), Autosomal recessive
AQP2chr1212q13Diabetes insipidus, nephrogenic, 125800 (3), Autosomal recessive, Autosomal dominant
AQP7chr99p13[Glycerol quantitative trait locus], 614411 (3), Autosomal recessive
ARchrXXq11-q12Hypospadias 1, X-linked, 300633 (3), X-linked recessive; Androgen insensitivity, 300068 (3), X-linked recessive; {Prostate cancer, susceptibility to}, 176807 (3), Somatic mutation, Autosomal dominant; Androgen insensitivity, partial, with or without breast cancer, 312300 (3), X-linked recessive; Spinal and bulbar muscular atrophy of Kennedy, 313200 (3), X-linked recessive
ARFGEF2chr2020q13.13Periventricular heterotopia with microcephaly, 608097 (3), Autosomal recessive
ARG1chr66q23Argininemia, 207800 (3), Autosomal recessive
ARHGDIAchr1717q25.3Nephrotic syndrome, type 8, 615244 (3), Autosomal recessive
ARHGEF6chrXXq26.3
ARHGEF9chrXXq22.1Epileptic encephalopathy, early infantile, 8, 300607 (3), X-linked recessive
ARL13Bchr33q11.2Joubert syndrome 8, 612291 (3), Autosomal recessive
ARL2BPchr1616q13Retinitis pigmentosa with or without situs inversus, 615434 (3), Autosomal recessive
ARL3chr1010q23.3Joubert syndrome 35, 618161 (3), Autosomal recessive; Retinitis pigmentosa 83, 618173 (3), Autosomal dominant
ARL6chr33p12-q13?Retinitis pigmentosa 55, 613575 (3); Bardet-Biedl syndrome 3, 600151 (3), Autosomal recessive; {Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Digenic recessive, Autosomal recessive
ARL6IP1chr1616p12-p11.2?Spastic paraplegia 61, autosomal recessive, 615685 (3), Autosomal recessive
ARMC4chr1010p12.1Ciliary dyskinesia, primary, 23, 615451 (3), Autosomal recessive
ARNT2chr1515q24?Webb-Dattani syndrome, 615926 (3), Autosomal recessive
ARSAchr2222q13.31-qterMetachromatic leukodystrophy, 250100 (3), Autosomal recessive
ARSBchr55q11-q13Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3), Autosomal recessive
ARSEchrX
ARV1chr11q42.2Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive
ARXchrXXp22.13Epileptic encephalopathy, early infantile, 1, 308350 (3), X-linked recessive; Lissencephaly, X-linked 2, 300215 (3), X-linked; Proud syndrome, 300004 (3), X-linked; Mental retardation, X-linked 29 and others, 300419 (3), X-linked recessive; Partington syndrome, 309510 (3), X-linked recessive; Hydranencephaly with abnormal genitalia, 300215 (3), X-linked
ASAH1chr88p22-p21.3Farber lipogranulomatosis, 228000 (3), Autosomal recessive; Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3), Autosomal recessive
ASCC1chr1010q22.1Spinal muscular atrophy with congenital bone fractures 2, 616867 (3), Autosomal recessive; Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
ASLchr77cen-q11.2Argininosuccinic aciduria, 207900 (3), Autosomal recessive
ASNSchr77q21-q31Asparagine synthetase deficiency, 615574 (3), Autosomal recessive
ASPAchr1717pter-p13Canavan disease, 271900 (3), Autosomal recessive
ASPHchr88q12.1Traboulsi syndrome, 601552 (3), Autosomal recessive
ASPMchr11q31Microcephaly 5, primary, autosomal recessive, 608716 (3), Autosomal recessive
ASS1chr99q34.1Citrullinemia, 215700 (3), Autosomal recessive
ATAD3Achr11p36.33Harel-Yoon syndrome, 617183 (3), Autosomal recessive, Autosomal dominant; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3), Autosomal recessive
ATCAYchr1919p13.3Ataxia, cerebellar, Cayman type, 601238 (3), Autosomal recessive
ATF6chr11q22-q23Achromatopsia 7, 616517 (3), Autosomal recessive
ATICchr22q35AICA-ribosiduria due to ATIC deficiency, 608688 (3), Autosomal recessive
ATMchr1111q22.3Lymphoma, mantle cell, somatic (3); Lymphoma, B-cell non-Hodgkin, somatic (3); Ataxia-telangiectasia, 208900 (3), Autosomal recessive; {Breast cancer, susceptibility to}, 114480 (3), Somatic mutation, Autosomal dominant; T-cell prolymphocytic leukemia, somatic (3)
ATOH7chr1010q21.3-q22.1Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3), Autosomal recessive
ATP13A2chr11p36Kufor-Rakeb syndrome, 606693 (3), Autosomal recessive; Spastic paraplegia 78, autosomal recessive, 617225 (3), Autosomal recessive
ATP2A1chr1616p12Brody myopathy, 601003 (3), Autosomal recessive
ATP2B2chr33p26-p25{Deafness, autosomal recessive 12, modifier of}, 601386 (3), Autosomal recessive
ATP2B3chrXXq28?Spinocerebellar ataxia, X-linked 1, 302500 (3), X-linked recessive
ATP6AP2chrXXp11.4Congenital disorder of glycosylation, type IIr, 301045 (3), X-linked recessive; Mental retardation, X-linked, syndromic, Hedera type, 300423 (3), X-linked recessive; ?Parkinsonism with spasticity, X-linked, 300911 (3), X-linked recessive
ATP6V0A2chr1212q24.3Wrinkly skin syndrome, 278250 (3), Autosomal recessive; Cutis laxa, autosomal recessive, type IIA, 219200 (3), Autosomal recessive
ATP6V0A4chr77q33-q34Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
ATP6V1B1chr22cen-q13Renal tubular acidosis with deafness, 267300 (3), Autosomal recessive
ATP7AchrXXq12-q13Occipital horn syndrome, 304150 (3), X-linked recessive; Menkes disease, 309400 (3), X-linked recessive; Spinal muscular atrophy, distal, X-linked 3, 300489 (3), X-linked recessive
ATP7Bchr1313q14.3-q21.1Wilson disease, 277900 (3), Autosomal recessive
ATP8A2chr1313q12?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3), Autosomal recessive
ATP8B1chr1818q21Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3), Autosomal dominant; Cholestasis, progressive familial intrahepatic 1, 211600 (3), Autosomal recessive; Cholestasis, benign recurrent intrahepatic, 243300 (3), Autosomal recessive
ATPAF2chr1717p11.2?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3), Autosomal recessive
ATRchr33q22-q24Seckel syndrome 1, 210600 (3), Autosomal recessive; ?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3), Autosomal dominant
ATRXchrXXq13Alpha-thalassemia/mental retardation syndrome, 301040 (3), X-linked dominant; Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3), X-linked recessive
AUHchr99q22.313-methylglutaconic aciduria, type I, 250950 (3), Autosomal recessive
AURKCchr1919q13.43Spermatogenic failure 5, 243060 (3), Autosomal recessive
AVPR2chrXXq28Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3), X-linked recessive; Diabetes insipidus, nephrogenic, 304800 (3), X-linked recessive
B2Mchr1515q21-q22Immunodeficiency 43, 241600 (3), Autosomal recessive; ?Amyloidosis, familial visceral, 105200 (3), Autosomal dominant
B3GALNT2chr11q42.3Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3), Autosomal recessive
B3GALT6chr11p36.3Al-Gazali syndrome, 609465 (3); Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3), Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3), Autosomal recessive
B3GAT3chr1111q12-q13Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3), Autosomal recessive
B3GLCTchr1313q12.3Peters-plus syndrome, 261540 (3), Autosomal recessive
B4GALNT1chr1212q13.3Spastic paraplegia 26, autosomal recessive, 609195 (3), Autosomal recessive
B4GALT1chr99p13Congenital disorder of glycosylation, type IId, 607091 (3), Autosomal recessive
B4GALT7chr55q35.2-q35.3Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3), Autosomal recessive
B4GAT1chr1111q13.2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3), Autosomal recessive
B9D1chr1717p11.2?Meckel syndrome 9, 614209 (3), Autosomal recessive; Joubert syndrome 27, 617120 (3), Autosomal recessive
B9D2chr1919q13.2Joubert syndrome 34, 614175 (3), Autosomal recessive; ?Meckel syndrome 10, 614175 (3), Autosomal recessive
BAATchr99q22.3Hypercholanemia, familial, 607748 (3), Autosomal recessive
BANF1chr1111q13.1Nestor-Guillermo progeria syndrome, 614008 (3), Autosomal recessive
BBIP1chr1010q25.2?Bardet-Biedl syndrome 18, 615995 (3), Autosomal recessive
BBS1chr1111q13Bardet-Biedl syndrome 1, 209900 (3), Digenic recessive, Autosomal recessive
BBS10chr1212q21.2Bardet-Biedl syndrome 10, 615987 (3), Autosomal recessive
BBS12chr44q27Bardet-Biedl syndrome 12, 615989 (3), Autosomal recessive
BBS2chr1616q21Bardet-Biedl syndrome 2, 615981 (3), Autosomal recessive; Retinitis pigmentosa 74, 616562 (3), Autosomal recessive
BBS4chr1515q22.3-q23Bardet-Biedl syndrome 4, 615982 (3), Autosomal recessive
BBS5chr22q31Bardet-Biedl syndrome 5, 615983 (3), Autosomal recessive
BBS7chr44q27Bardet-Biedl syndrome 7, 615984 (3), Autosomal recessive
BBS9chr77p14Bardet-Biedl syndrome 9, 615986 (3), Autosomal recessive
BCAMchr1919q13.2[Blood group, Lutheran null], 247420 (3), Autosomal recessive; [Blood group, Lutheran system], 111200 (3); [Blood group, Auberger system], 111200 (3)
BCAP31chrXXq28Deafness, dystonia, and cerebral hypomyelination, 300475 (3), X-linked recessive
BCAT2chr1919q13?Hypervalinemia or hyperleucine-isoleucinemia, 618850 (3), Autosomal recessive
BCHEchr33q26.1-q26.2{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3); Butyrylcholinesterase deficiency, 617936 (3)
BCKDHAchr1919q13.1-q13.2Maple syrup urine disease, type Ia, 248600 (3), Autosomal recessive
BCKDHBchr66q14Maple syrup urine disease, type Ib, 248600 (3), Autosomal recessive
BCL10chr11p22?Immunodeficiency 37, 616098 (3), Autosomal recessive; {Male germ cell tumor, somatic}, 273300 (3); Lymphoma, MALT, somatic, 137245 (3); {Sezary syndrome, somatic} (3); {Lymphoma, follicular, somatic}, 605027 (3); {Mesothelioma, somatic}, 156240 (3)
BCORchrXXp11.4Microphthalmia, syndromic 2, 300166 (3), X-linked dominant
BCORL1chrXXq25-q26.1Shukla-Vernon syndrome, 301029 (3), X-linked recessive
BCS1Lchr22q33Leigh syndrome, 256000 (3), Mitochondrial, Autosomal recessive; GRACILE syndrome, 603358 (3), Autosomal recessive; Bjornstad syndrome, 262000 (3), Autosomal recessive; Mitochondrial complex III deficiency, nuclear type 1, 124000 (3), Autosomal recessive
BDP1chr55q13?Deafness, autosomal recessive 112, 618257 (3), Autosomal recessive
BEST1chr1111q13Retinitis pigmentosa-50, 613194 (3); Bestrophinopathy, autosomal recessive, 611809 (3); Retinitis pigmentosa, concentric, 613194 (3); Vitreoretinochoroidopathy, 193220 (3), Autosomal dominant; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3), Autosomal dominant; Macular dystrophy, vitelliform, 2, 153700 (3), Autosomal dominant
BFSP1chr2020p12.1-p11.23Cataract 33, multiple types, 611391 (3), Autosomal recessive, Autosomal dominant
BGNchrXXq28Meester-Loeys syndrome, 300989 (3), X-linked; Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3), X-linked recessive
BHLHA9chr1717p13.3Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3), Autosomal recessive; ?Camptosynpolydactyly, complex, 607539 (3), Autosomal recessive
BIN1chr22q14Centronuclear myopathy 2, 255200 (3), Autosomal recessive
BLMchr1515q26.1Bloom syndrome, 210900 (3), Autosomal recessive
BLNKchr1010q23.2?Agammaglobulinemia 4, 613502 (3), Autosomal recessive
BLOC1S3chr1919q13Hermansky-Pudlak syndrome 8, 614077 (3), Autosomal recessive
BLOC1S6chr1515q15?Hermansky-pudlak syndrome 9, 614171 (3), Autosomal recessive
BLVRAchr77p13Hyperbiliverdinemia, 614156 (3), Autosomal recessive, Autosomal dominant
BMP1chr88p21Osteogenesis imperfecta, type XIII, 614856 (3), Autosomal recessive
BMP2chr2020p12Brachydactyly, type A2, 112600 (3), Autosomal dominant; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3), Autosomal dominant; {HFE hemochromatosis, modifier of}, 235200 (3), Autosomal recessive
BMPERchr77p14.3Diaphanospondylodysostosis, 608022 (3), Autosomal recessive
BMPR1Bchr44q23-q24Brachydactyly, type A2, 112600 (3), Autosomal dominant; Brachydactyly, type A1, D, 616849 (3), Autosomal dominant; Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive
BOLA3chr22p13.1Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3), Autosomal recessive
BPGMchr77q31-q34Erythrocytosis, familial, 8, 222800 (3), Autosomal recessive
BRAT1chr77p22.3Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3), Autosomal recessive; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3), Autosomal recessive
BRF1chr1414q32.33Cerebellofaciodental syndrome, 616202 (3), Autosomal recessive
BRWD3chrXXq13Mental retardation, X-linked 93, 300659 (3), X-linked recessive
BSCL2chr1111q13Lipodystrophy, congenital generalized, type 2, 269700 (3), Autosomal recessive; Silver spastic paraplegia syndrome, 270685 (3), Autosomal dominant; Neuropathy, distal hereditary motor, type VA, 600794 (3), Autosomal dominant; Encephalopathy, progressive, with or without lipodystrophy, 615924 (3), Autosomal recessive
BSNDchr11p31Sensorineural deafness with mild renal dysfunction, 602522 (3), Autosomal recessive; Bartter syndrome, type 4a, 602522 (3), Autosomal recessive
BTDchr33p25Biotinidase deficiency, 253260 (3), Autosomal recessive
BTKchrXXq21.3-q22Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3), X-linked recessive; Agammaglobulinemia, X-linked 1, 300755 (3), X-linked recessive
BUB1Bchr1515q15Colorectal cancer, somatic, 114500 (3); [Premature chromatid separation trait], 176430 (3), Autosomal dominant; Mosaic variegated aneuploidy syndrome 1, 257300 (3), Autosomal recessive
BVESchr66q21Muscular dystrophy, limb-girdle, autosomal recessive 25, 616812 (3), Autosomal recessive
C12orf4chr1212p13.3Mental retardation, autosomal recessive 66, 618221 (3), Autosomal recessive
C12orf57chr1212p13Temtamy syndrome, 218340 (3), Autosomal recessive
C12orf65chr1212q24.31Spastic paraplegia 55, autosomal recessive, 615035 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 7, 613559 (3), Autosomal recessive
C19orf12chr1919q12Neurodegeneration with brain iron accumulation 4, 614298 (3), Autosomal recessive, Autosomal dominant; ?Spastic paraplegia 43, autosomal recessive, 615043 (3), Autosomal recessive
C1QAchr11p36.3-p34.1C1q deficiency, 613652 (3), Autosomal recessive
C1QBchr11p36.3-p34.1C1q deficiency, 613652 (3), Autosomal recessive
C1QCchr11p36.3-p34.1C1q deficiency, 613652 (3), Autosomal recessive
C2chr66p21.3C2 deficiency, 217000 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
C2CD3chr1111q13.4Orofaciodigital syndrome XIV, 615948 (3), Autosomal recessive
C3chr1919p13.3-p13.2{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3), Autosomal dominant; C3 deficiency, 613779 (3), Autosomal recessive; {Macular degeneration, age-related, 9}, 611378 (3)
C4Achr66p21.3C4a deficiency, 614380 (3), Autosomal recessive; [Blood group, Rodgers], 614374 (3)
C8Achr11p32C8 deficiency, type I, 613790 (3), Autosomal recessive
C8Bchr11p32C8 deficiency, type II, 613789 (3), Autosomal recessive
C8orf37chr88q22.1Retinitis pigmentosa 64, 614500 (3), Autosomal recessive; Bardet-Biedl syndrome 21, 617406 (3), Autosomal recessive; Cone-rod dystrophy 16, 614500 (3), Autosomal recessive
CA12chr1515q22Hyperchlorhidrosis, isolated, 143860 (3), Autosomal recessive
CA2chr88q22Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3), Autosomal recessive
CA5Achr1616q24.3Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3), Autosomal recessive
CA8chr88q11-q12Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3), Autosomal recessive
CABP2chr1111q13.1Deafness, autosomal recessive 93, 614899 (3), Autosomal recessive
CABP4chr1111q13.1Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3), Autosomal recessive
CACNA1Bchr99q34Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 (3), Autosomal recessive
CACNA1Dchr33p21.1Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3), Autosomal dominant; Sinoatrial node dysfunction and deafness, 614896 (3), Autosomal recessive
CACNA1FchrXXp11.23Cone-rod dystrophy, X-linked, 3, 300476 (3), X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3), X-linked; Aland Island eye disease, 300600 (3), X-linked
CACNA2D2chr33p21.3Cerebellar atrophy with seizures and variable developmental delay, 618501 (3), Autosomal recessive
CACNA2D4chr1212p13.3Retinal cone dystrophy 4, 610478 (3), Autosomal recessive
CALCRLchr22q31-q32?Lymphatic malformation 8, 618773 (3), Autosomal recessive
CANT1chr1717q25.3Desbuquois dysplasia 1, 251450 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 7, 617719 (3), Autosomal recessive
CAPN1chr1111q13Spastic paraplegia 76, autosomal recessive, 616907 (3), Autosomal recessive
CAPN3chr1515q15.1-q21.1Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3), Autosomal dominant
CARD11chr77p22Immunodeficiency 11B with atopic dermatitis, 617638 (3), Autosomal dominant; B-cell expansion with NFKB and T-cell anergy, 616452 (3), Autosomal dominant; Immunodeficiency 11A, 615206 (3), Autosomal recessive
CARD9chr99q34.3Candidiasis, familial, 2, autosomal recessive, 212050 (3), Autosomal recessive
CARS2chr1313q34Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive
CARTPTchr55q13.2{?Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant
CASKchrXXp11.4Mental retardation, with or without nystagmus, 300422 (3); Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3), X-linked dominant; FG syndrome 4, 300422 (3)
CASP10chr22q33-q34Lymphoma, non-Hodgkin, somatic, 605027 (3); Gastric cancer, somatic, 613659 (3); Autoimmune lymphoproliferative syndrome, type II, 603909 (3), Autosomal dominant
CASP8chr22q33{Lung cancer, protection against}, 211980 (3), Somatic mutation, Autosomal dominant; ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3), Autosomal recessive; Hepatocellular carcinoma, somatic, 114550 (3); {Breast cancer, protection against}, 114480 (3), Somatic mutation, Autosomal dominant
CASQ2chr11p13.3-p11Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3), Autosomal recessive
CASRchr33q21.1Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3), Autosomal dominant; Hypocalciuric hypercalcemia, type I, 145980 (3), Autosomal dominant; {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypocalcemia, autosomal dominant, 601198 (3), Autosomal dominant; Hyperparathyroidism, neonatal, 239200 (3), Autosomal recessive, Autosomal dominant
CASTchr55q15-q21Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3), Autosomal recessive
CATSPER1chr1111q13.1Spermatogenic failure 7, 612997 (3), Autosomal recessive
CAV1chr77q31.1Lipodystrophy, familial partial, type 7, 606721 (3), Autosomal dominant; ?Lipodystrophy, congenital generalized, type 3, 612526 (3), Autosomal recessive; Pulmonary hypertension, primary, 3, 615343 (3), Autosomal dominant
CAVIN1chr1717q21Lipodystrophy, congenital generalized, type 4, 613327 (3), Autosomal recessive
CBSchr2121q22.3Homocystinuria, B6-responsive and nonresponsive types, 236200 (3), Autosomal recessive; Thrombosis, hyperhomocysteinemic, 236200 (3), Autosomal recessive
CBX2chr1717q25?46XY sex reversal 5, 613080 (3), Autosomal recessive
CC2D1Achr1919p13.12Mental retardation, autosomal recessive 3, 608443 (3), Autosomal recessive
CC2D2Achr44p15.3Meckel syndrome 6, 612284 (3), Autosomal recessive; Joubert syndrome 9, 612285 (3), Autosomal recessive; COACH syndrome, 216360 (3), Autosomal recessive
CCBE1chr1818q21.32Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3), Autosomal recessive
CCDC103chr1717q21.31Ciliary dyskinesia, primary, 17, 614679 (3), Autosomal recessive
CCDC114chr1919q13.3Ciliary dyskinesia, primary, 20, 615067 (3), Autosomal recessive
CCDC151chr1919p13.2Ciliary dyskinesia, primary, 30, 616037 (3), Autosomal recessive
CCDC22chrXXp11.23Ritscher-Schinzel syndrome 2, 300963 (3), X-linked recessive
CCDC28Bchr11p35.1{Bardet-Biedl syndrome 1, modifier of}, 209900 (3), Digenic recessive, Autosomal recessive
CCDC39chr33q26.33Ciliary dyskinesia, primary, 14, 613807 (3)
CCDC40chr1717q25.3Ciliary dyskinesia, primary, 15, 613808 (3)
CCDC65chr1212q13.12Ciliary dyskinesia, primary, 27, 615504 (3), Autosomal recessive
CCDC8chr1919q13.2-q13.323-M syndrome 3, 614205 (3), Autosomal recessive
CCDC88Cchr1414q32.11?Spinocerebellar ataxia 40, 616053 (3), Autosomal dominant; Hydrocephalus, congenital, 1, 236600 (3), Autosomal recessive
CCN6chr66q22-q23Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3), Autosomal recessive; Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3), Autosomal recessive
CCNOchr55q11.2Ciliary dyskinesia, primary, 29, 615872 (3), Autosomal recessive
CCT5chr55p15.2Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3), Autosomal recessive
CD19chr1616p11.2Immunodeficiency, common variable, 3, 613493 (3), Autosomal recessive
CD247chr11q22-q23?Immunodeficiency 25, 610163 (3), Autosomal recessive
CD27chr1212p13Lymphoproliferative syndrome 2, 615122 (3), Autosomal recessive
CD36chr77q21.11{Coronary heart disease, susceptibility to, 7}, 610938 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); Platelet glycoprotein IV deficiency, 608404 (3), Autosomal recessive; {Malaria, cerebral, reduced risk of}, 611162 (3)
CD3Dchr1111q23Immunodeficiency 19, 615617 (3), Autosomal recessive
CD3Echr1111q23Immunodeficiency 18, SCID variant, 615615 (3), Autosomal recessive; Immunodeficiency 18, 615615 (3), Autosomal recessive
CD3Gchr1111q23Immunodeficiency 17, CD3 gamma deficient, 615607 (3), Autosomal recessive
CD40chr2020q12-q13.2Immunodeficiency with hyper-IgM, type 3, 606843 (3), Autosomal recessive
CD40LGchrXXq26Immunodeficiency, X-linked, with hyper-IgM, 308230 (3), X-linked recessive
CD46chr11q32{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3), Autosomal recessive, Autosomal dominant
CD55chr11q32[Blood group Cromer], 613793 (3), Autosomal recessive; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive
CD59chr1111p13Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3), Autosomal recessive
CD79Achr1919q13.2Agammaglobulinemia 3, 613501 (3), Autosomal recessive
CD79Bchr1717q23Agammaglobulinemia 6, 612692 (3), Autosomal recessive
CD81chr1111pImmunodeficiency, common variable, 6, 613496 (3), Autosomal recessive
CD8Achr22p12CD8 deficiency, familial, 608957 (3), Autosomal recessive
CDAN1chr1515q15Dyserythropoietic anemia, congenital, type Ia, 224120 (3), Autosomal recessive
CDC6chr1717q21.2?Meier-Gorlin syndrome 5, 613805 (3), Autosomal recessive
CDH23chr1010q21-q22{Pituitary adenoma 5, multiple types}, 617540 (3), Autosomal dominant; Deafness, autosomal recessive 12, 601386 (3), Autosomal recessive; Usher syndrome, type 1D/F digenic, 601067 (3), Digenic recessive, Autosomal recessive; Usher syndrome, type 1D, 601067 (3), Digenic recessive, Autosomal recessive
CDH3chr1616q22.1Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3), Autosomal recessive; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3), Autosomal recessive
CDHR1chr1010q23.1Cone-rod dystrophy 15, 613660 (3), Autosomal recessive; Retinitis pigmentosa 65, 613660 (3), Autosomal recessive
CDK5chr77q36?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3), Autosomal recessive
CDK5RAP2chr99q33.3Microcephaly 3, primary, autosomal recessive, 604804 (3), Autosomal recessive
CDK6chr77q21-q22?Microcephaly 12, primary, autosomal recessive, 616080 (3), Autosomal recessive
CDKL5chrXXp22Epileptic encephalopathy, early infantile, 2, 300672 (3), X-linked dominant
CDSNchr66p21.3Hypotrichosis 2, 146520 (3), Autosomal dominant; Peeling skin syndrome 1, 270300 (3), Autosomal recessive
CDT1chr1616q24.3Meier-Gorlin syndrome 4, 613804 (3), Autosomal recessive
CEACAM16chr1919q13.31Deafness, autosomal recessive 113, 618410 (3), Autosomal recessive; Deafness, autosomal dominant 4B, 614614 (3), Autosomal dominant
CEBPEchr1414q11.2Specific granule deficiency, 245480 (3), Autosomal recessive
CENPEchr44q24-q25?Microcephaly 13, primary, autosomal recessive, 616051 (3), Autosomal recessive
CENPJchr1313q12.2Microcephaly 6, primary, autosomal recessive, 608393 (3), Autosomal recessive; ?Seckel syndrome 4, 613676 (3), Autosomal recessive
CEP120chr55q23.2Joubert syndrome 31, 617761 (3), Autosomal recessive; Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3), Autosomal recessive
CEP135chr44q12Microcephaly 8, primary, autosomal recessive, 614673 (3), Autosomal recessive
CEP152chr1515q21.1Microcephaly 9, primary, autosomal recessive, 614852 (3), Autosomal recessive; Seckel syndrome 5, 613823 (3), Autosomal recessive
CEP164chr1111q23.3Nephronophthisis 15, 614845 (3), Autosomal recessive
CEP19chr33q29Morbid obesity and spermatogenic failure, 615703 (3), Autosomal recessive
CEP250chr2020q11.2Cone-rod dystrophy and hearing loss 2, 618358 (3), Autosomal recessive
CEP290chr1212q21.3?Bardet-Biedl syndrome 14, 615991 (3), Autosomal recessive; Leber congenital amaurosis 10, 611755 (3); Senior-Loken syndrome 6, 610189 (3), Autosomal recessive; Meckel syndrome 4, 611134 (3), Autosomal recessive; Joubert syndrome 5, 610188 (3), Autosomal recessive
CEP41chr77q32Joubert syndrome 15, 614464 (3), Autosomal recessive
CEP57chr1111q21Mosaic variegated aneuploidy syndrome 2, 614114 (3), Autosomal recessive
CEP63chr33q22.2?Seckel syndrome 6, 614728 (3), Autosomal recessive
CEP83chr1212q22Nephronophthisis 18, 615862 (3), Autosomal recessive
CERKLchr22q31.3Retinitis pigmentosa 26, 608380 (3)
CERKLchr22q31.3Retinitis pigmentosa 26, 608380 (3)
CERS3chr1515q26.3Ichthyosis, congenital, autosomal recessive 9, 615023 (3), Autosomal recessive
CFAP53chr1818q21.1Heterotaxy, visceral, 6, autosomal recessive, 614779 (3), Autosomal recessive
CFBchr66p21.3?Complement factor B deficiency, 615561 (3), Autosomal recessive; {Macular degeneration, age-related, 14, reduced risk of}, 615489 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3), Autosomal dominant
CFDchr1919p13.3Complement factor D deficiency, 613912 (3), Autosomal recessive
CFHchr11q32Complement factor H deficiency, 609814 (3), Autosomal recessive, Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3), Autosomal recessive, Autosomal dominant; Basal laminar drusen, 126700 (3), Autosomal dominant; {Macular degeneration, age-related, 4}, 610698 (3)
CFHR1chr11q31-q32.1{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant; {Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant
CFHR3chr11q31-q32.1{Macular degeneration, age-related, reduced risk of}, 603075 (3), Autosomal dominant; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3), Autosomal recessive, Autosomal dominant
CFIchr44q25{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3), Autosomal dominant; Complement factor I deficiency, 610984 (3), Autosomal recessive; {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3), Autosomal dominant
CFL2chr1414q12Nemaline myopathy 7, autosomal recessive, 610687 (3), Autosomal recessive
CFPchrXXp11.4-p11.23Properdin deficiency, X-linked, 312060 (3), X-linked recessive
CFTRchr77q31.2{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3), Autosomal dominant; Sweat chloride elevation without CF (3); {Hypertrypsinemia, neonatal} (3); Cystic fibrosis, 219700 (3), Autosomal recessive; Congenital bilateral absence of vas deferens, 277180 (3), Autosomal recessive; {Pancreatitis, hereditary}, 167800 (3), Autosomal dominant
CHATchr1010q11.2Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3), Autosomal recessive
CHIT1chr11q31-q32[Chitotriosidase deficiency], 614122 (3), Autosomal recessive
CHKBchr2222q13Muscular dystrophy, congenital, megaconial type, 602541 (3), Autosomal recessive
CHMP1Achr1616q24.3Pontocerebellar hypoplasia, type 8, 614961 (3), Autosomal recessive
CHMP1Bchr1818p11
CHRDL1chrXXq22.1-q23Megalocornea 1, X-linked, 309300 (3), X-linked recessive
CHRM3chr11q43Prune belly syndrome, 100100 (3), Autosomal recessive
CHRNA1chr22q24-q32Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3), Autosomal dominant; Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3), Autosomal recessive, Autosomal dominant; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive
CHRNA3chr1515q25.1{Lung cancer susceptibility 2}, 612052 (3); Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 (3), Autosomal recessive
CHRNB1chr1717p12-p11?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3), Autosomal recessive; Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3), Autosomal dominant
CHRNDchr22q33-q34?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3), Autosomal recessive; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3), Autosomal dominant; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive
CHRNEchr1717p13-p12Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3), Autosomal recessive, Autosomal dominant; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3), Autosomal recessive; Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3), Autosomal recessive
CHRNGchr22q33-q34Escobar syndrome, 265000 (3), Autosomal recessive; Multiple pterygium syndrome, lethal type, 253290 (3), Autosomal recessive
CHST14chr1515q14Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3), Autosomal recessive
CHST3chr1010q22.1Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3), Autosomal recessive
CHST6chr1616q22Macular corneal dystrophy, 217800 (3), Autosomal recessive
CHST8chr1919q13.1?Peeling skin syndrome 3, 616265 (3), Autosomal recessive
CHSY1chr1515q26.3Temtamy preaxial brachydactyly syndrome, 605282 (3), Autosomal recessive
CHUKchr1010q24Cocoon syndrome, 613630 (3)
CIB2chr1515q24Deafness, autosomal recessive 48, 609439 (3), Autosomal recessive; Usher syndrome, type IJ, 614869 (3), Autosomal recessive
CIDECchr33p25?Lipodystrophy, familial partial, type 5, 615238 (3), Autosomal recessive
CIITAchr1616p13Bare lymphocyte syndrome, type II, complementation group A, 209920 (3), Autosomal recessive; {Rheumatoid arthritis, susceptibility to}, 180300 (3)
CISD2chr44q22-q24Wolfram syndrome 2, 604928 (3), Autosomal recessive
CKAP2Lchr22q13Filippi syndrome, 272440 (3), Autosomal recessive
CLCF1chr1111q13.3Cold-induced sweating syndrome 2, 610313 (3), Autosomal recessive
CLCN1chr77q35Myotonia congenita, dominant, 160800 (3), Autosomal dominant; Myotonia levior, recessive (3); Myotonia congenita, recessive, 255700 (3), Autosomal recessive
CLCN2chr33q26{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3), Autosomal dominant; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3), Autosomal dominant; Leukoencephalopathy with ataxia, 615651 (3), Autosomal recessive; Hyperaldosteronism, familial, type II, 605635 (3), Autosomal dominant
CLCN5chrXXp11.22Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3), X-linked recessive; Dent disease, 300009 (3), X-linked recessive; Hypophosphatemic rickets, 300554 (3), X-linked recessive; Nephrolithiasis, type I, 310468 (3), X-linked recessive
CLCN7chr1616p13Osteopetrosis, autosomal recessive 4, 611490 (3), Autosomal recessive; Osteopetrosis, autosomal dominant 2, 166600 (3), Autosomal dominant; Hypopigmentation, organomegaly, and delayed myelination and development, 618541 (3), Autosomal dominant
CLCNKAchr11p36Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive
CLCNKBchr11p36Bartter syndrome, type 3, 607364 (3), Autosomal recessive; Bartter syndrome, type 4b, digenic, 613090 (3), Digenic recessive
CLDN1chr33q28-q29Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3), Autosomal recessive
CLDN14chr2121q22.3Deafness, autosomal recessive 29, 614035 (3), Autosomal recessive
CLDN16chr33q27Hypomagnesemia 3, renal, 248250 (3), Autosomal recessive
CLDN19chr11p34.2Hypomagnesemia 5, renal, with ocular involvement, 248190 (3), Autosomal recessive
CLEC7Achr1212p13.2-p12.3{Aspergillosis, susceptibility to}, 614079 (3); Candidiasis, familial, 4, autosomal recessive, 613108 (3), Autosomal recessive
CLIC2chrXXq28?Mental retardation, X-linked, syndromic 32, 300886 (3), X-linked recessive
CLIC5chr66p21.1-p12.1?Deafness, autosomal recessive 103, 616042 (3), Autosomal recessive
CLMPchr1111q24.1Congenital short bowel syndrome, 615237 (3), Autosomal recessive
CLN3chr1616p12.1Ceroid lipofuscinosis, neuronal, 3, 204200 (3), Autosomal recessive
CLN5chr1313q22.3Ceroid lipofuscinosis, neuronal, 5, 256731 (3), Autosomal recessive
CLN6chr1515q21-q23Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 6, 601780 (3), Autosomal recessive
CLN8chr88p23Ceroid lipofuscinosis, neuronal, 8, 600143 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3), Autosomal recessive
CLP1chr1111q12.1Pontocerebellar hypoplasia, type 10, 615803 (3), Autosomal recessive
CLPBchr1111q13.43-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3), Autosomal recessive
CLPPchr1919p13.3Perrault syndrome 3, 614129 (3), Autosomal recessive
CLRN1chr33q21-q25Retinitis pigmentosa 61, 614180 (3); Usher syndrome, type 3A, 276902 (3), Autosomal recessive
CNGA1chr44p12-cen
CNGA3chr22q11Achromatopsia 2, 216900 (3), Autosomal recessive
CNGB1chr1616q21Retinitis pigmentosa 45, 613767 (3), Autosomal recessive
CNGB3chr88q21-q22Achromatopsia 3, 262300 (3), Autosomal recessive
CNNM2chr1010q24.33Hypomagnesemia 6, renal, 613882 (3), Autosomal dominant; Hypomagnesemia, seizures, and mental retardation, 616418 (3), Autosomal recessive, Autosomal dominant
CNNM4chr22q11.2Jalili syndrome, 217080 (3), Autosomal recessive
CNPY3chr66pter-p12Epileptic encephalopathy, early infantile, 60, 617929 (3), Autosomal recessive
CNTN1chr1212q11-q12?Myopathy, congenital, Compton-North, 612540 (3), Autosomal recessive
CNTN2chr11q32.1?Epilepsy, myoclonic, familial adult, 5, 615400 (3), Autosomal recessive
CNTNAP1chr1717q21Lethal congenital contracture syndrome 7, 616286 (3), Autosomal recessive; Hypomyelinating neuropathy, congenital, 3, 618186 (3), Autosomal recessive
CNTNAP2chr77q35-q36{Autism susceptibility 15}, 612100 (3); Pitt-Hopkins like syndrome 1, 610042 (3), Autosomal recessive; Cortical dysplasia-focal epilepsy syndrome, 610042 (3), Autosomal recessive
COA5chr22q11.2?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3), Autosomal recessive
COA6chr11q42.2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3), Autosomal recessive
COASYchr1717q12-q21Neurodegeneration with brain iron accumulation 6, 615643 (3), Autosomal recessive; Pontocerebellar hypoplasia, type 12, 618266 (3), Autosomal recessive
COCHchr1414q12-q13?Deafness, autosomal recessive 110, 618094 (3), Autosomal recessive; Deafness, autosomal dominant 9, 601369 (3), Autosomal dominant
COG1chr1717q25.1Congenital disorder of glycosylation, type IIg, 611209 (3), Autosomal recessive
COG2chr11q42.2?Congenital disorder of glycosylation, type IIq, 617395 (3), Autosomal recessive
COG4chr1616q22.1Saul-Wilson syndrome, 618150 (3), Autosomal dominant; Congenital disorder of glycosylation, type IIj, 613489 (3), Autosomal recessive
COG5chr77q31Congenital disorder of glycosylation, type IIi, 613612 (3), Autosomal recessive
COG6chr1313q13.3Congenital disorder of glycosylation, type IIl, 614576 (3), Autosomal recessive; Shaheen syndrome, 615328 (3), Autosomal recessive
COG7chr1616pCongenital disorder of glycosylation, type IIe, 608779 (3), Autosomal recessive
COG8chr1616q22.1Congenital disorder of glycosylation, type IIh, 611182 (3)
COL11A1chr11p21Stickler syndrome, type II, 604841 (3), Autosomal dominant; Marshall syndrome, 154780 (3), Autosomal dominant; ?Deafness, autosomal dominant 37, 618533 (3), Autosomal dominant; {Lumbar disc herniation, susceptibility to}, 603932 (3); Fibrochondrogenesis 1, 228520 (3), Autosomal recessive
COL11A2chr66p21.3Deafness, autosomal dominant 13, 601868 (3), Autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3), Autosomal recessive; Fibrochondrogenesis 2, 614524 (3), Autosomal recessive, Autosomal dominant; Deafness, autosomal recessive 53, 609706 (3), Autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3), Autosomal dominant
COL17A1chr1010q24.3Epithelial recurrent erosion dystrophy, 122400 (3), Autosomal dominant; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, localisata variant, 226650 (3), Autosomal recessive
COL18A1chr2121q22.3Knobloch syndrome, type 1, 267750 (3), Autosomal recessive; Glaucoma, primary closed-angle, 618880 (3), Autosomal dominant
COL1A1chr1717q21.31-q22Osteogenesis imperfecta, type I, 166200 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; {Bone mineral density variation QTL, osteoporosis}, 166710 (3), Autosomal dominant; Caffey disease, 114000 (3), Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant
COL1A2chr77q22.1{Osteoporosis, postmenopausal}, 166710 (3), Autosomal dominant; Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3), Autosomal recessive; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3), Autosomal dominant; Osteogenesis imperfecta, type II, 166210 (3), Autosomal dominant; Osteogenesis imperfecta, type IV, 166220 (3), Autosomal dominant; Osteogenesis imperfecta, type III, 259420 (3), Autosomal dominant
COL25A1chr44q25Fibrosis of extraocular muscles, congenital, 5, 616219 (3), Autosomal recessive
COL27A1chr99q32Steel syndrome, 615155 (3), Autosomal recessive
COL3A1chr22q32.2Ehlers-Danlos syndrome, vascular type, 130050 (3), Autosomal dominant; Polymicrogyria with or without vascular-type EDS, 618343 (3), Autosomal recessive
COL4A3chr22q36-q37Alport syndrome 2, autosomal recessive, 203780 (3), Autosomal recessive; Alport syndrome 3, autosomal dominant, 104200 (3), Autosomal dominant; Hematuria, benign familial, 141200 (3), Autosomal dominant
COL4A4chr22q36-q37Alport syndrome 2, autosomal recessive, 203780 (3), Autosomal recessive; Hematuria, familial benign, 141200 (3), Autosomal dominant
COL4A5chrXXq22.3Alport syndrome 1, X-linked, 301050 (3), X-linked dominant
COL4A6chrXXq22.3?Deafness, X-linked 6, 300914 (3), X-linked recessive
COL6A1chr2121q22.3Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant; Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant
COL6A2chr2121q22.3Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant; ?Myosclerosis, congenital, 255600 (3), Autosomal recessive
COL6A3chr22q37Bethlem myopathy 1, 158810 (3), Autosomal recessive, Autosomal dominant; Dystonia 27, 616411 (3), Autosomal recessive; Ullrich congenital muscular dystrophy 1, 254090 (3), Autosomal recessive, Autosomal dominant
COL7A1chr33p21.3EBD inversa, 226600 (3), Autosomal recessive; Epidermolysis bullosa dystrophica, AR, 226600 (3), Autosomal recessive; Toenail dystrophy, isolated, 607523 (3), Autosomal dominant; EBD, localisata variant (3); EBD, Bart type, 132000 (3), Autosomal dominant; Transient bullous of the newborn, 131705 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa dystrophica, AD, 131750 (3), Autosomal dominant; Epidermolysis bullosa pruriginosa, 604129 (3), Autosomal recessive, Autosomal dominant; Epidermolysis bullosa, pretibial, 131850 (3), Autosomal recessive, Autosomal dominant
COL9A2chr11p34.2?Stickler syndrome, type V, 614284 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 2, 600204 (3), Autosomal dominant
COLEC11chr22p25.33MC syndrome 2, 265050 (3), Autosomal recessive
COLQchr33p25Myasthenic syndrome, congenital, 5, 603034 (3), Autosomal recessive
COQ2chr44q21-q22{Multiple system atrophy, susceptibility to}, 146500 (3), Autosomal recessive, Autosomal dominant; Coenzyme Q10 deficiency, primary, 1, 607426 (3), Autosomal recessive
COQ4chr99q34.13Coenzyme Q10 deficiency, primary, 7, 616276 (3), Autosomal recessive
COQ6chr1414q24.3Coenzyme Q10 deficiency, primary, 6, 614650 (3), Autosomal recessive
COQ8Achr11q42.2Coenzyme Q10 deficiency, primary, 4, 612016 (3), Autosomal recessive
COQ8Bchr1919q13.1Nephrotic syndrome, type 9, 615573 (3), Autosomal recessive
COQ9chr1616q13Coenzyme Q10 deficiency, primary, 5, 614654 (3), Autosomal recessive
CORO1Achr1616p11.2Immunodeficiency 8, 615401 (3), Autosomal recessive
COX10chr1717p12-p11.2Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive; Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3), Mitochondrial, Autosomal recessive
COX14chr1212q13.12?Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive
COX15chr1010q24Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3), Autosomal recessive; Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3), Mitochondrial, Autosomal recessive
COX20chr11q44Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive
COX4I2chr2020q11.21Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3), Autosomal recessive
COX6A1chr1212q24.2Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3), Autosomal recessive
COX6B1chr1919q13.1Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive
CPchr33q23-q24[Hypoceruloplasminemia, hereditary], 604290 (3), Autosomal recessive; Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3), Autosomal recessive; Cerebellar ataxia, 604290 (3), Autosomal recessive
CPA6chr88q13Febrile seizures, familial, 11, 614418 (3), Autosomal recessive; Epilepsy, familial temporal lobe, 5, 614417 (3), Autosomal recessive, Autosomal dominant
CPN1chr1010q24.2Carboxypeptidase N deficiency, 212070 (3), Autosomal recessive
CPOXchr33q12Harderoporphyria, 618892 (3), Autosomal recessive; Coproporphyria, 121300 (3), Autosomal recessive, Autosomal dominant
CPS1chr22q35Carbamoylphosphate synthetase I deficiency, 237300 (3), Autosomal recessive; {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
CPT1Achr1111q13CPT deficiency, hepatic, type IA, 255120 (3), Autosomal recessive
CPT2chr11p32CPT II deficiency, myopathic, stress-induced, 255110 (3), Autosomal recessive, Autosomal dominant; CPT II deficiency, infantile, 600649 (3), Autosomal recessive; CPT II deficiency, lethal neonatal, 608836 (3), Autosomal recessive; {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3), Autosomal recessive, Autosomal dominant
CR2chr11q32{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3); Immunodeficiency, common variable, 7, 614699 (3), Autosomal recessive
CRADDchr1212q21.33-q23.1Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3), Autosomal recessive
CRATchr99q34.1?Neurodegeneration with brain iron accumulation 8, 617917 (3), Autosomal recessive
CRB1chr11q31-q32.1Pigmented paravenous chorioretinal atrophy, 172870 (3), Autosomal dominant; Retinitis pigmentosa-12, 600105 (3), Autosomal recessive; Leber congenital amaurosis 8, 613835 (3), Autosomal recessive
CRB2chr99q33.3Ventriculomegaly with cystic kidney disease, 219730 (3), Autosomal recessive; Focal segmental glomerulosclerosis 9, 616220 (3), Autosomal recessive
CRBNchr33p26.2Mental retardation, autosomal recessive 2, 607417 (3), Autosomal recessive
CREB3L1chr1111p11.2Osteogenesis imperfecta, type XVI, 616229 (3), Autosomal recessive
CRIPTchr22p21Short stature with microcephaly and distinctive facies, 615789 (3), Autosomal recessive
CRLF1chr1919p12Cold-induced sweating syndrome 1, 272430 (3), Autosomal recessive
CRTAPchr33p22Osteogenesis imperfecta, type VII, 610682 (3), Autosomal recessive
CRYAAchr2121q22.3Cataract 9, multiple types, 604219 (3), Autosomal recessive, Autosomal dominant
CRYABchr1111q22.3-q23.1Myopathy, myofibrillar, 2, 608810 (3), Autosomal dominant; Cardiomyopathy, dilated, 1II, 615184 (3), Autosomal dominant; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3), Autosomal recessive; Cataract 16, multiple types, 613763 (3), Autosomal recessive, Autosomal dominant
CRYBB1chr2222q11.2-q12.1Cataract 17, multiple types, 611544 (3), Autosomal recessive, Autosomal dominant
CRYBB3chr2222q11.2-q12.2Cataract 22, 609741 (3), Autosomal recessive, Autosomal dominant
CSF1Rchr55q32Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 (3), Autosomal recessive; Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3), Autosomal dominant
CSF2RBchr2222q12.2-q13.1Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3), Autosomal recessive
CSF3Rchr11p35-p34.3Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3), Autosomal recessive
CSGALNACT1chr88p21.3Skeletal dysplasia, mild, with joint laxity and advanced bone age, 618870 (3), Autosomal recessive
CSPP1chr88q13.2Joubert syndrome 21, 615636 (3), Autosomal recessive
CST6chr1111q13?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 (3), Autosomal recessive
CSTAchr33q21Peeling skin syndrome 4, 607936 (3), Autosomal recessive
CSTBchr2121q22.3Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3), Autosomal recessive
CTC1chr1717p13.1Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3), Autosomal recessive
CTDP1chr1818q23Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3), Autosomal recessive
CTHchr11p31.1Cystathioninuria, 219500 (3), Autosomal recessive
CTNNA2chr22p12-p11.1Cortical dysplasia, complex, with other brain malformations 9, 618174 (3), Autosomal recessive
CTNSchr1717p13Cystinosis, nephropathic, 219800 (3), Autosomal recessive; Cystinosis, ocular nonnephropathic, 219750 (3), Autosomal recessive; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3), Autosomal recessive; Cystinosis, atypical nephropathic, 219800 (3), Autosomal recessive
CTPS1chr11p34.1Immunodeficiency 24, 615897 (3), Autosomal recessive
CTSAchr2020q13.1Galactosialidosis, 256540 (3), Autosomal recessive
CTSCchr1111q14.1-q14.3Periodontitis 1, juvenile, 170650 (3), Autosomal recessive; Papillon-Lefevre syndrome, 245000 (3), Autosomal recessive; Haim-Munk syndrome, 245010 (3), Autosomal recessive
CTSDchr1111p15.5Ceroid lipofuscinosis, neuronal, 10, 610127 (3), Autosomal recessive
CTSFchr1111q13.1Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3), Autosomal recessive
CTSKchr11q21Pycnodysostosis, 265800 (3), Autosomal recessive
CUBNchr1010p12.1[Proteinuria, chronic benign], 618884 (3), Autosomal recessive; Imerslund-Grasbeck syndrome 1, 261100 (3), Autosomal recessive
CUL4BchrXXq23Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3), X-linked recessive
CUL7chr66p21.13-M syndrome 1, 273750 (3), Autosomal recessive
CWF19L1chr1010q24.31Spinocerebellar ataxia, autosomal recessive 17, 616127 (3), Autosomal recessive
CYB5Achr1818q23Methemoglobinemia and ambiguous genitalia, 250790 (3), Autosomal recessive
CYB5R3chr2222q13.31-qterMethemoglobinemia, type I, 250800 (3), Autosomal recessive; Methemoglobinemia, type II, 250800 (3), Autosomal recessive
CYBAchr1616q24Chronic granulomatous disease 4, autosomal recessive, 233690 (3), Autosomal recessive
CYBBchrXXp21.1Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3), X-linked recessive; Chronic granulomatous disease, X-linked, 306400 (3), X-linked recessive
CYC1chr88q24.3Mitochondrial complex III deficiency, nuclear type 6, 615453 (3), Autosomal recessive
CYP11A1chr1515q24.1Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
CYP11B1chr88q21Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3), Autosomal recessive; Aldosteronism, glucocorticoid-remediable, 103900 (3), Autosomal dominant
CYP11B2chr88q21Aldosterone to renin ratio raised (3); Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3), Autosomal recessive; {Low renin hypertension, susceptibility to} (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3), Autosomal recessive
CYP17A1chr1010q24.317-alpha- hydroxylase/17,20-lyase deficiency, 202110 (3), Autosomal recessive; 17,20-lyase deficiency, isolated, 202110 (3), Autosomal recessive
CYP1B1chr22p22-p21Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3), Autosomal recessive; Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)
CYP21A2chr66p21.3Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3), Autosomal recessive
CYP24A1chr2020q13.2-q13.3Hypercalcemia, infantile, 1, 143880 (3), Autosomal recessive
CYP26C1chr1010q23.3Focal facial dermal dysplasia 4, 614974 (3), Autosomal recessive
CYP27A1chr22q33-qterCerebrotendinous xanthomatosis, 213700 (3), Autosomal recessive
CYP27B1chr1212q13.1-q13.3Vitamin D-dependent rickets, type I, 264700 (3), Autosomal recessive
CYP2C19chr1010q24.1-q24.3Clopidogrel, impaired responsiveness to, 609535 (3), Autosomal recessive; Mephenytoin poor metabolizer, 609535 (3), Autosomal recessive; Proguanil poor metabolizer, 609535 (3), Autosomal recessive; Omeprazole poor metabolizer, 609535 (3), Autosomal recessive
CYP2D6chr2222q13.1{Debrisoquine sensitivity}, 608902 (3), Autosomal recessive; {Codeine sensitivity}, 608902 (3), Autosomal recessive
CYP2R1chr1111p15.2Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3), Autosomal recessive
CYP2U1chr44q25Spastic paraplegia 56, autosomal recessive, 615030 (3), Autosomal recessive
CYP4F22chr1919p13.12Ichthyosis, congenital, autosomal recessive 5, 604777 (3), Autosomal recessive
CYP4V2chr44q35.1Bietti crystalline corneoretinal dystrophy, 210370 (3), Autosomal recessive
CYP7B1chr88q21.3Spastic paraplegia 5A, autosomal recessive, 270800 (3), Autosomal recessive; Bile acid synthesis defect, congenital, 3, 613812 (3), Autosomal recessive
D2HGDHchr22q37.3D-2-hydroxyglutaric aciduria, 600721 (3), Autosomal recessive
DAG1chr33p21Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3), Autosomal recessive
DARS2chr11q25.1Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3), Autosomal recessive
DBHchr99q34Orthostatic hypotension 1, due to DBH deficiency, 223360 (3), Autosomal recessive
DBTchr11p31Maple syrup urine disease, type II, 248600 (3), Autosomal recessive
DCAF17chr22q22.3-q35Woodhouse-Sakati syndrome, 241080 (3), Autosomal recessive
DCCchr1818q21.3Esophageal carcinoma, somatic, 133239 (3); Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3), Autosomal recessive; Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3)
DCDC2chr66p22.1Sclerosing cholangitis, neonatal, 617394 (3), Autosomal recessive; Nephronophthisis 19, 616217 (3), Autosomal recessive; ?Deafness, autosomal recessive 66, 610212 (3), Autosomal recessive
DCHS1chr1111p15.4Mitral valve prolapse 2, 607829 (3), Autosomal dominant; Van Maldergem syndrome 1, 601390 (3), Autosomal recessive
DCLRE1Cchr1010pOmenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, Athabascan type, 602450 (3), Autosomal recessive
DCPSchr1111q24.2Al-Raqad syndrome, 616459 (3), Autosomal recessive
DCTN1chr22p13{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant; Perry syndrome, 168605 (3), Autosomal dominant; Neuronopathy, distal hereditary motor, type VIIB, 607641 (3), Autosomal dominant
DCXchrXXq22.3-q23Subcortical laminal heterotopia, X-linked, 300067 (3), X-linked; Lissencephaly, X-linked, 300067 (3), X-linked
DCXRchr1717q25.3[Pentosuria], 260800 (3), Autosomal recessive
DDB2chr1111p12-p11Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3), Autosomal recessive
DDCchr77p11Aromatic L-amino acid decarboxylase deficiency, 608643 (3), Autosomal recessive
DDHD1chr1414q22.1Spastic paraplegia 28, autosomal recessive, 609340 (3), Autosomal recessive
DDHD2chr88p11.23Spastic paraplegia 54, autosomal recessive, 615033 (3), Autosomal recessive
DDOSTchr11p36.1?Congenital disorder of glycosylation, type Ir, 614507 (3), Autosomal recessive
DDR2chr11q12-qterSpondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3), Autosomal recessive; Warburg-Cinotti syndrome, 618175 (3), Autosomal dominant
DDRGK1chr2020p13Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3), Autosomal recessive
DDX11chr1212p11Warsaw breakage syndrome, 613398 (3), Autosomal recessive
DDX3XchrXXp11.3-p11.23Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, 300958 (3), X-linked dominant, X-linked recessive
DDX59chr11q32.1Orofaciodigital syndrome V, 174300 (3), Autosomal recessive
DEAF1chr1111p15.5Vulto-van Silfout-de Vries syndrome, 615828 (3), Autosomal dominant; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, 617171 (3), Autosomal recessive
DENND5Achr1111p15.4Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive
DESchr22q35?Cardiomyopathy, dilated, 1I, 604765 (3), Autosomal dominant; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3), Autosomal dominant; Myopathy, myofibrillar, 1, 601419 (3), Autosomal recessive, Autosomal dominant
DGAT1chr88q24.3?Diarrhea 7, protein-losing enteropathy type, 615863 (3), Autosomal recessive
DGKEchr1717q22{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3), Autosomal recessive; Nephrotic syndrome, type 7, 615008 (3), Autosomal recessive
DGUOKchr22p13Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3), Autosomal recessive; Portal hypertension, noncirrhotic, 617068 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3), Autosomal recessive
DHCR24chr11p33-p31.1Desmosterolosis, 602398 (3), Autosomal recessive
DHCR7chr1111q12-q13Smith-Lemli-Opitz syndrome, 270400 (3), Autosomal recessive
DHDDSchr11p36.11Retinitis pigmentosa 59, 613861 (3), Autosomal recessive; Developmental delay and seizures with or without movement abnormalities, 617836 (3), Autosomal dominant; ?Congenital disorder of glycosylation, type 1bb, 613861 (3), Autosomal recessive
DHFRchr55q11.2-q13.2Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3), Autosomal recessive
DHHchr1212q13.146XY sex reversal 7, 233420 (3), Autosomal recessive; 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)
DHODHchr1616q22Miller syndrome, 263750 (3), Autosomal recessive
DHTKD1chr1010p142-aminoadipic 2-oxoadipic aciduria, 204750 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3), Autosomal dominant
DHX37chr1212q24.31Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3), Autosomal recessive; 46, XY sex reversal 11, 273250 (3), Autosomal dominant
DHX38chr1616q21-q22Retinitis pigmentosa 84, 618220 (3), Autosomal recessive
DIAPH1chr55q31Seizures, cortical blindness, microcephaly syndrome, 616632 (3), Autosomal recessive; Deafness, autosomal dominant 1, with or without thrombocytopenia, 124900 (3), Autosomal dominant
DIS3L2chr22q37.2Perlman syndrome, 267000 (3), Autosomal recessive
DKC1chrXXq28Dyskeratosis congenita, X-linked, 305000 (3), X-linked recessive
DLATchr1111q23.1Pyruvate dehydrogenase E2 deficiency, 245348 (3), Autosomal recessive
DLDchr77q31-q32Dihydrolipoamide dehydrogenase deficiency, 246900 (3), Autosomal recessive
DLG3chrXXq13.1Mental retardation, X-linked 90, 300850 (3), X-linked recessive
DLL3chr1919q13Spondylocostal dysostosis 1, autosomal recessive, 277300 (3), Autosomal recessive
DLX5chr77q22Split-hand/foot malformation 1, 183600 (3), Autosomal dominant; ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3), Autosomal recessive
DMDchrXXp21.2Cardiomyopathy, dilated, 3B, 302045 (3), X-linked; Becker muscular dystrophy, 300376 (3), X-linked recessive; Duchenne muscular dystrophy, 310200 (3), X-linked recessive
DMGDHchr55q12.2-q12.3Dimethylglycine dehydrogenase deficiency, 605850 (3), Autosomal recessive
DMP1chr44q21Hypophosphatemic rickets, AR, 241520 (3), Autosomal recessive
DMXL2chr1515q21.2?Deafness, autosomal dominant 71, 617605 (3), Autosomal dominant; ?Polyendocrine-polyneuropathy syndrome, 616113 (3), Autosomal recessive; Epileptic encephalopathy, early infantile, 81, 618663 (3), Autosomal recessive
DNA2chr1010q21.3-q22.1Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3), Autosomal dominant; ?Seckel syndrome 8, 615807 (3), Autosomal recessive
DNAAF1chr1616q24.1Ciliary dyskinesia, primary, 13, 613193 (3), Autosomal recessive
DNAAF2chr1414q21.3Ciliary dyskinesia, primary, 10, 612518 (3)
DNAAF3chr1919q13.4Ciliary dyskinesia, primary, 2, 606763 (3), Autosomal recessive
DNAAF4chr1515q21{Dyslexia, susceptibility to, 1}, 127700 (3), Autosomal dominant; Ciliary dyskinesia, primary, 25, 615482 (3), Autosomal recessive
DNAAF5chr77p22.3Ciliary dyskinesia, primary, 18, 614874 (3), Autosomal recessive
DNAH1chr33p21.3?Ciliary dyskinesia, primary, 37, 617577 (3), Autosomal recessive; Spermatogenic failure 18, 617576 (3), Autosomal recessive
DNAH11chr77p21Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3), Autosomal recessive
DNAH5chr55p15-p14Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAH9chr1717p12Ciliary dyskinesia, primary, 40, 618300 (3), Autosomal recessive
DNAI1chr99p13.3Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3), Autosomal recessive
DNAI2chr1717q25Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DNAJB2chr22q35Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3), Autosomal recessive
DNAJC19chr33q26.33-methylglutaconic aciduria, type V, 610198 (3), Autosomal recessive
DNAJC3chr1313q32?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3), Autosomal recessive
DNAJC6chr11p32.1-p31.3Parkinson disease 19b, early-onset, 615528 (3), Autosomal recessive; Parkinson disease 19a, juvenile-onset, 615528 (3), Autosomal recessive
DNAL1chr1414q24.3Ciliary dyskinesia, primary, 16, 614017 (3), Autosomal recessive
DNAL4chr2222q13.1?Mirror movements 3, 616059 (3), Autosomal recessive
DNASE1L3chr33p21.1-p14.3Systemic lupus erythematosus 16, 614420 (3), Autosomal recessive
DNM1Lchr1212p11.21Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3), Autosomal recessive, Autosomal dominant; Optic atrophy 5, 610708 (3), Autosomal dominant
DNM2chr1919p13.2Lethal congenital contracture syndrome 5, 615368 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3), Autosomal dominant; Centronuclear myopathy 1, 160150 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3), Autosomal dominant
DNMT3Bchr2020q11.2Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3), Autosomal recessive
DOCK3chr33p14Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 (3), Autosomal recessive
DOCK6chr1919p13.2Adams-Oliver syndrome 2, 614219 (3), Autosomal recessive
DOCK7chr11p31.3Epileptic encephalopathy, early infantile, 23, 615859 (3), Autosomal recessive
DOCK8chr99p24Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3), Autosomal recessive
DOK7chr44p16.2Fetal akinesia deformation sequence 3, 618389 (3), Autosomal recessive; Myasthenic syndrome, congenital, 10, 254300 (3), Autosomal recessive
DOLKchr99q34.11Congenital disorder of glycosylation, type Im, 610768 (3), Autosomal recessive
DPAGT1chr1111q23.3Congenital disorder of glycosylation, type Ij, 608093 (3), Autosomal recessive; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3), Autosomal recessive
DPH1chr1717p13.3Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 (3), Autosomal recessive
DPM1chr2020q13.13Congenital disorder of glycosylation, type Ie, 608799 (3), Autosomal recessive
DPM2chr99q34.11Congenital disorder of glycosylation, type Iu, 615042 (3), Autosomal recessive
DPM3chr11q12-q21Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3), Autosomal recessive
DPY19L2chr1212q14.2Spermatogenic failure 9, 613958 (3), Autosomal recessive
DPYDchr11p22Dihydropyrimidine dehydrogenase deficiency, 274270 (3), Autosomal recessive; 5-fluorouracil toxicity, 274270 (3), Autosomal recessive
DPYSchr88q22Dihydropyrimidinuria, 222748 (3), Autosomal recessive
DRC1chr22p23.3Ciliary dyskinesia, primary, 21, 615294 (3), Autosomal recessive
DSC2chr1818q12.1Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3), Autosomal recessive, Autosomal dominant; Arrhythmogenic right ventricular dysplasia 11, 610476 (3), Autosomal recessive, Autosomal dominant
DSC3chr1818q12.1?Hypotrichosis and recurrent skin vesicles, 613102 (3), Autosomal recessive
DSEchr66q22Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3), Autosomal recessive
DSG1chr1818q12.1-q12.2Keratosis palmoplantaris striata I, AD, 148700 (3), Autosomal dominant; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3), Autosomal recessive
DSG4chr1818q12Hypotrichosis 6, 607903 (3), Autosomal recessive
DSPchr66p24Keratosis palmoplantaris striata II, 612908 (3), Autosomal dominant; Arrhythmogenic right ventricular dysplasia 8, 607450 (3), Autosomal dominant; Epidermolysis bullosa, lethal acantholytic, 609638 (3), Autosomal recessive; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3), Autosomal recessive; Skin fragility-woolly hair syndrome, 607655 (3), Autosomal recessive; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3), Autosomal dominant
DSTchr66p12-p11?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3), Autosomal recessive; Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3), Autosomal recessive
DSTYKchr11q32.1Congenital anomalies of kidney and urinary tract 1, 610805 (3), Autosomal dominant; Spastic paraplegia 23, 270750 (3), Autosomal recessive
DTNBP1chr66p22.3Hermansky-Pudlak syndrome 7, 614076 (3), Autosomal recessive
DUOX2chr1515q15.3Thyroid dyshormonogenesis 6, 607200 (3), Autosomal recessive
DUOXA2chr1515q15Thyroid dyshormonogenesis 5, 274900 (3), Autosomal recessive
DYMchr1818q12-q21.1Smith-McCort dysplasia, 607326 (3), Autosomal recessive; Dyggve-Melchior-Clausen disease, 223800 (3), Autosomal recessive
DYNC2H1chr1111q22.3Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3), Digenic recessive, Autosomal recessive
DYSFchr22p13.3-p13.1Miyoshi muscular dystrophy 1, 254130 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3), Autosomal recessive; Myopathy, distal, with anterior tibial onset, 606768 (3), Autosomal recessive
EARS2chr1616p13.1-p11.2Combined oxidative phosphorylation deficiency 12, 614924 (3), Autosomal recessive
EBPchrXXp11.23-p11.22Chondrodysplasia punctata, X-linked dominant, 302960 (3), X-linked dominant; MEND syndrome, 300960 (3), X-linked recessive
ECEL1chr22q36-q37Arthrogryposis, distal, type 5D, 615065 (3), Autosomal recessive
ECHS1chr1010q26.2-q26.3Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3), Autosomal recessive
ECM1chr11q21Urbach-Wiethe disease, 247100 (3), Autosomal recessive
EDAchrXXq12-q13.1Tooth agenesis, selective, X-linked 1, 313500 (3), X-linked dominant; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3), X-linked recessive
EDARchr22q11-q13Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3), Autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3), Autosomal recessive; [Hair morphology 1, hair thickness], 612630 (3)
EDARADDchr11q42.2-q43Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3), Autosomal recessive; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3), Autosomal dominant
EDN1chr66p24-p23Auriculocondylar syndrome 3, 615706 (3), Autosomal recessive; {High density lipoprotein cholesterol level QTL 7} (3); Question mark ears, isolated, 612798 (3), Autosomal dominant
EDN3chr2020q13.2-q13.3Waardenburg syndrome, type 4B, 613265 (3), Autosomal recessive, Autosomal dominant; Central hypoventilation syndrome, congenital, 209880 (3), Autosomal dominant; {Hirschsprung disease, susceptibility to, 4}, 613712 (3), Autosomal dominant
EDNRBchr1313q22{Hirschsprung disease, susceptibility to, 2}, 600155 (3), Autosomal dominant; Waardenburg syndrome, type 4A, 277580 (3), Autosomal recessive, Autosomal dominant; ABCD syndrome, 600501 (3), Autosomal recessive
EFEMP2chr1111q13Cutis laxa, autosomal recessive, type IB, 614437 (3), Autosomal recessive
EFNB1chrXXq12Craniofrontonasal dysplasia, 304110 (3), X-linked dominant
EGFRchr77p12.3-p12.1?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3), Autosomal recessive; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3), Somatic mutation, Autosomal dominant; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3), Somatic mutation, Autosomal dominant; {Nonsmall cell lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant
EGR2chr1010q21.1-q22.1Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Hypomyelinating neuropathy, congenital, 1, 605253 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, type 1D, 607678 (3), Autosomal dominant
EIF2AK3chr22p12Wolcott-Rallison syndrome, 226980 (3), Autosomal recessive
EIF2AK4chr1515q15.1Pulmonary venoocclusive disease 2, 234810 (3), Autosomal recessive
EIF2B1chr1212q24.31Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive
EIF2B2chr1414q24Ovarioleukodystrophy, 603896 (3), Autosomal recessive; Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive
EIF2B3chr11p34.1Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive
EIF2B4chr22p23.3Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive
EIF2B5chr33q27Leukoencephalopathy with vanishing white matter, 603896 (3), Autosomal recessive; Ovarioleukodystrophy, 603896 (3), Autosomal recessive
EIF2S3chrXXp22.2-p22.1MEHMO syndrome, 300148 (3), X-linked recessive
EIF4A3chr1717q25.3Robin sequence with cleft mandible and limb anomalies, 268305 (3), Autosomal recessive
ELAC2chr1717p11Combined oxidative phosphorylation deficiency 17, 615440 (3), Autosomal recessive; {Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
ELMOD3chr22p11.3?Deafness, autosomal recessive 88, 615429 (3), Autosomal recessive
ELOVL4chr66q14Spinocerebellar ataxia 34, 133190 (3), Autosomal dominant; Stargardt disease 3, 600110 (3), Autosomal dominant; Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3), Autosomal recessive
ELP1chr99q31Dysautonomia, familial, 223900 (3), Autosomal recessive
ELP2chr1818q12.2Mental retardation, autosomal recessive 58, 617270 (3), Autosomal recessive
EMC1chr11p36.13Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3), Autosomal recessive
EMDchrXXq28Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3), X-linked recessive
EMG1chr1212p13Bowen-Conradi syndrome, 211180 (3), Autosomal recessive
EML1chr1414q32Band heterotopia, 600348 (3), Autosomal recessive
EMP2chr1616p13.2Nephrotic syndrome, type 10, 615861 (3), Autosomal recessive
ENAMchr44q21Amelogenesis imperfecta, type IC, 204650 (3), Autosomal recessive; Amelogenesis imperfecta, type IB, 104500 (3), Autosomal dominant
ENO3chr1717pter-p12?Glycogen storage disease XIII, 612932 (3), Autosomal recessive
ENPP1chr66q22-q23Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3), Autosomal recessive; Cole disease, 615522 (3), Autosomal dominant; {Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Arterial calcification, generalized, of infancy, 1, 208000 (3), Autosomal recessive; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3), Autosomal dominant
ENTPD1chr1010q24Spastic paraplegia 64, autosomal recessive, 615683 (3), Autosomal recessive
EOGTchr33p14.1Adams-Oliver syndrome 4, 615297 (3), Autosomal recessive
EPB41chr11p36.2-p34Elliptocytosis-1, 611804 (3), Autosomal recessive, Autosomal dominant
EPB42chr1515q15Spherocytosis, type 5, 612690 (3)
EPCAMchr22p21Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3); Diarrhea 5, with tufting enteropathy, congenital, 613217 (3), Autosomal recessive
EPG5chr1818q12.3-q21.1Vici syndrome, 242840 (3), Autosomal recessive
EPHB2chr11p36.1-p35{Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3); ?Bleeding disorder, platelet-type, 22, 618462 (3), Autosomal recessive
EPHX1chr11q42.1?Hypercholanemia, familial, 607748 (3), Autosomal recessive
EPM2Achr66q24Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3), Autosomal recessive
EPOchr77q21Erythrocytosis, familial, 5, 617907 (3), Autosomal dominant; {Microvascular complications of diabetes 2}, 612623 (3); ?Diamond-Blackfan anemia-like, 617911 (3), Autosomal recessive
EPS8chr1212p12.3?Deafness, autosomal recessive 102, 615974 (3), Autosomal recessive
EPXchr1717q23.1[Eosinophil peroxidase deficiency], 261500 (3), Autosomal recessive
ERBB3chr1212q13{?Erythroleukemia, familial, susceptibility to}, 133180 (3), Autosomal dominant; ?Lethal congenital contractural syndrome 2, 607598 (3), Autosomal recessive
ERCC1chr1919q13.2-q13.3Cerebrooculofacioskeletal syndrome 4, 610758 (3), Autosomal recessive
ERCC2chr1919q13.2-q13.3Trichothiodystrophy 1, photosensitive, 601675 (3), Autosomal recessive; ?Cerebrooculofacioskeletal syndrome 2, 610756 (3), Autosomal recessive; Xeroderma pigmentosum, group D, 278730 (3), Autosomal recessive
ERCC3chr22q21Xeroderma pigmentosum, group B, 610651 (3), Autosomal recessive; Trichothiodystrophy 2, photosensitive, 616390 (3), Autosomal recessive
ERCC4chr1616p13.3-p13.13Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3), Autosomal recessive; Fanconi anemia, complementation group Q, 615272 (3), Autosomal recessive; XFE progeroid syndrome, 610965 (3), Autosomal recessive; Xeroderma pigmentosum, group F, 278760 (3), Autosomal recessive
ERCC5chr1313q33Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3), Autosomal recessive; Xeroderma pigmentosum, group G, 278780 (3), Autosomal recessive; Cerebrooculofacioskeletal syndrome 3, 616570 (3), Autosomal recessive
ERCC6chr1010q11{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3); {Lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant; Cerebrooculofacioskeletal syndrome 1, 214150 (3), Autosomal recessive; Cockayne syndrome, type B, 133540 (3), Autosomal recessive; Premature ovarian failure 11, 616946 (3), Autosomal dominant; UV-sensitive syndrome 1, 600630 (3), Autosomal recessive; De Sanctis-Cacchione syndrome, 278800 (3), Autosomal recessive
ERCC6L2chr99q22.32Bone marrow failure syndrome 2, 615715 (3), Autosomal recessive
ERCC8chr55q12Cockayne syndrome, type A, 216400 (3), Autosomal recessive; UV-sensitive syndrome 2, 614621 (3), Autosomal recessive
ERLIN1chr1010q24.31Spastic paraplegia 62, 615681 (3), Autosomal recessive
ERLIN2chr88p11.2Spastic paraplegia 18, autosomal recessive, 611225 (3), Autosomal recessive
ESCO2chr88p21.1Roberts syndrome, 268300 (3), Autosomal recessive; SC phocomelia syndrome, 269000 (3), Autosomal recessive
ESPNchr11p36.3-p36.1?Usher syndrome, type 1M, 618632 (3), Autosomal recessive; Deafness, autosomal recessive 36, 609006 (3), Autosomal recessive; Deafness, neurosensory, without vestibular involvement, autosomal dominant, 609006 (3), Autosomal recessive
ESR1chr66q25.1{Myocardial infarction, susceptibility to}, 608446 (3); Estrogen resistance, 615363 (3), Autosomal recessive; Breast cancer, somatic, 114480 (3); {Migraine, susceptibility to}, 157300 (3), Autosomal dominant
ESRRBchr1414q24.3Deafness, autosomal recessive 35, 608565 (3), Autosomal recessive
ETFAchr1515q23-q25Glutaric acidemia IIA, 231680 (3), Autosomal recessive
ETFBchr1919q13.3Glutaric acidemia IIB, 231680 (3), Autosomal recessive
ETFDHchr44q32-qterGlutaric acidemia IIC, 231680 (3), Autosomal recessive
ETHE1chr1919q13.32Ethylmalonic encephalopathy, 602473 (3), Autosomal recessive
EVCchr44p16Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive; ?Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant
EVC2chr44p16Weyers acrofacial dysostosis, 193530 (3), Autosomal dominant; Ellis-van Creveld syndrome, 225500 (3), Autosomal recessive
EXOC6Bchr22p13.2Spondyloepimetaphyseal dysplasia with joint laxity, type 3, 618395 (3), Autosomal recessive
EXOSC3chr99p13.2Pontocerebellar hypoplasia, type 1B, 614678 (3), Autosomal recessive
EXOSC8chr1313q13.1Pontocerebellar hypoplasia, type 1C, 616081 (3), Autosomal recessive
EXPH5chr1111q22.3Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3), Autosomal recessive
EXT2chr1111p12-p11Seizures, scoliosis, and macrocephaly syndrome, 616682 (3), Autosomal recessive; Exostoses, multiple, type 2, 133701 (3), Autosomal dominant
EXTL3chr88p21Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive
EYSchr66q12Retinitis pigmentosa 25, 602772 (3), Autosomal recessive
F10chr1313q34Factor X deficiency, 227600 (3), Autosomal recessive
F11chr44q35Factor XI deficiency, autosomal dominant, 612416 (3); Factor XI deficiency, autosomal recessive, 612416 (3)
F12chr55q33-qterFactor XII deficiency, 234000 (3), Autosomal recessive; Angioedema, hereditary, type III, 610618 (3), Autosomal dominant
F13A1chr66p25-p24{Myocardial infarction, protection against}, 608446 (3); Factor XIIIA deficiency, 613225 (3), Autosomal recessive; {Venous thrombosis, protection against}, 188050 (3), Autosomal dominant
F13Bchr11q31-q32.1Factor XIIIB deficiency, 613235 (3), Autosomal recessive
F2chr1111p11-q12{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3), Autosomal dominant; Hypoprothrombinemia, 613679 (3), Autosomal recessive; Dysprothrombinemia, 613679 (3), Autosomal recessive; Thrombophilia due to thrombin defect, 188050 (3), Autosomal dominant; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial
F5chr11q23{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3), Autosomal dominant; Thrombophilia due to activated protein C resistance, 188055 (3), Autosomal dominant; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3), Autosomal dominant; Factor V deficiency, 227400 (3), Autosomal recessive; {Budd-Chiari syndrome}, 600880 (3), Autosomal recessive; {Stroke, ischemic, susceptibility to}, 601367 (3), Multifactorial
F7chr1313q34{Myocardial infarction, decreased susceptibility to}, 608446 (3); Factor VII deficiency, 227500 (3), Autosomal recessive
F8chrXXq28Hemophilia A, 306700 (3), X-linked recessive
F9chrXXq27.1-q27.2Thrombophilia, X-linked, due to factor IX defect, 300807 (3); {Deep venous thrombosis, protection against}, 300807 (3); Hemophilia B, 306900 (3), X-linked recessive; {Warfarin sensitivity}, 301052 (3), X-linked
FA2Hchr1616q23Spastic paraplegia 35, autosomal recessive, 612319 (3), Autosomal recessive
FADDchr1111q13.3Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3), Autosomal recessive
FAHchr1515q23-q25Tyrosinemia, type I, 276700 (3), Autosomal recessive
FAM126Achr77p15.3Leukodystrophy, hypomyelinating, 5, 610532 (3), Autosomal recessive
FAM161Achr22p15Retinitis pigmentosa 28, 606068 (3)
FAM20Achr1717q24.2Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3), Autosomal recessive
FAM20Cchr77p22Raine syndrome, 259775 (3), Autosomal recessive
FAN1chr1515q13.2-q13.3Interstitial nephritis, karyomegalic, 614817 (3), Autosomal recessive
FANCAchr1616q24.3Fanconi anemia, complementation group A, 227650 (3), Autosomal recessive
FANCBchrXXp22.31Fanconi anemia, complementation group B, 300514 (3), X-linked recessive
FANCCchr99q22.3Fanconi anemia, complementation group C, 227645 (3), Autosomal recessive
FANCD2chr33p25.3Fanconi anemia, complementation group D2, 227646 (3), Autosomal recessive
FANCEchr66p22-p21Fanconi anemia, complementation group E, 600901 (3), Autosomal recessive
FANCFchr1111p14.3Fanconi anemia, complementation group F, 603467 (3)
FANCGchr99p13.3Fanconi anemia, complementation group G, 614082 (3)
FANCIchr1515q25-q26Fanconi anemia, complementation group I, 609053 (3), Autosomal recessive
FANCLchr22p16.1Fanconi anemia, complementation group L, 614083 (3), Autosomal recessive
FANCMchr1414q21.3Spermatogenic failure 28, 618086 (3), Autosomal recessive; ?Premature ovarian failure 15, 618096 (3), Autosomal recessive
FAR1chr1111p15.2Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3), Autosomal recessive
FARS2chr66p25.1Spastic paraplegia 77, autosomal recessive, 617046 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 14, 614946 (3), Autosomal recessive
FASchr1010q24.1Autoimmune lymphoproliferative syndrome, type IA, 601859 (3), Autosomal dominant; Squamous cell carcinoma, burn scar-related, somatic (3); {Autoimmune lymphoproliferative syndrome}, 601859 (3), Autosomal dominant
FASLGchr11q23Autoimmune lymphoproliferative syndrome, type IB, 601859 (3), Autosomal dominant; {Lung cancer, susceptibility to}, 211980 (3), Somatic mutation, Autosomal dominant
FASTKD2chr22q33.3Combined oxidative phosphorylation deficiency 44, 618855 (3), Autosomal recessive
FAT4chr44q28.1Van Maldergem syndrome 2, 615546 (3), Autosomal recessive; Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3), Autosomal recessive
FBLN5chr1414q32.1Macular degeneration, age-related, 3, 608895 (3), Autosomal dominant; ?Cutis laxa, autosomal dominant 2, 614434 (3), Autosomal dominant; Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3), Autosomal dominant; Cutis laxa, autosomal recessive, type IA, 219100 (3), Autosomal recessive
FBP1chr99q22.2-q22.3Fructose-1,6-bisphosphatase deficiency, 229700 (3), Autosomal recessive
FBXL4chr66q16.1-q16.3Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3), Autosomal recessive
FBXO31chr1616q24.3?Mental retardation, autosomal recessive 45, 615979 (3), Autosomal recessive
FBXO7chr2222q12-q13Parkinson disease 15, autosomal recessive, 260300 (3), Autosomal recessive
FCGR2Achr11q21-q23{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3), Autosomal recessive; {Lupus nephritis, susceptibility to}, 152700 (3), Autosomal dominant; {Malaria, severe, susceptibility to}, 611162 (3)
FCGR3Achr11q23Immunodeficiency 20, 615707 (3), Autosomal recessive
FCN3chr11p36.11Immunodeficiency due to ficolin 3 deficiency, 613860 (3), Autosomal recessive
FDFT1chr88p23.1-p22Squalene synthase deficiency, 618156 (3), Autosomal recessive
FECHchr1818q21.3Protoporphyria, erythropoietic, 1, 177000 (3), Autosomal recessive
FERMT1chr2020p13Kindler syndrome, 173650 (3), Autosomal recessive
FERMT3chr1111q12Leukocyte adhesion deficiency, type III, 612840 (3), Autosomal recessive
FEZF1chr77q31.32Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3), Autosomal recessive
FGAchr44q28Dysfibrinogenemia, congenital, 616004 (3); Amyloidosis, familial visceral, 105200 (3), Autosomal dominant; Hypodysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3), Autosomal recessive
FGBchr44q28Dysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3), Autosomal recessive; Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive
FGD1chrXXp11.21Mental retardation, X-linked syndromic 16, 305400 (3), X-linked recessive; Aarskog-Scott syndrome, 305400 (3), X-linked recessive
FGD4chr1212p11.2Charcot-Marie-Tooth disease, type 4H, 609311 (3), Autosomal recessive
FGF16chrXXq21.1Metacarpal 4-5 fusion, 309630 (3), X-linked recessive
FGF20chr88p22-p21.3?Renal hypodysplasia/aplasia 2, 615721 (3), Autosomal recessive
FGF23chr1212p13.3Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3), Autosomal recessive; Hypophosphatemic rickets, autosomal dominant, 193100 (3), Autosomal dominant
FGF3chr1111q13Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3), Autosomal recessive
FGF5chr44q21Trichomegaly, 190330 (3), Autosomal recessive
FGFR3chr44p16.3Muenke syndrome, 602849 (3), Autosomal dominant; Nevus, epidermal, somatic, 162900 (3); Thanatophoric dysplasia, type II, 187601 (3), Autosomal dominant; Bladder cancer, somatic, 109800 (3); CATSHL syndrome, 610474 (3), Autosomal recessive, Autosomal dominant; Crouzon syndrome with acanthosis nigricans, 612247 (3), Autosomal dominant; Hypochondroplasia, 146000 (3), Autosomal dominant; LADD syndrome, 149730 (3), Autosomal dominant; Achondroplasia, 100800 (3), Autosomal dominant; Thanatophoric dysplasia, type I, 187600 (3), Autosomal dominant; Colorectal cancer, somatic, 114500 (3); Spermatocytic seminoma, somatic, 273300 (3); Cervical cancer, somatic, 603956 (3); SADDAN, 616482 (3), Autosomal dominant
FGGchr44q28Hypofibrinogenemia, congenital, 202400 (3), Autosomal recessive; Hypodysfibrinogenemia, 616004 (3); Dysfibrinogenemia, congenital, 616004 (3); Afibrinogenemia, congenital, 202400 (3), Autosomal recessive
FHchr11q42.1Fumarase deficiency, 606812 (3), Autosomal recessive; Leiomyomatosis and renal cell cancer, 150800 (3), Autosomal dominant
FIG4chr66q21Yunis-Varon syndrome, 216340 (3), Autosomal recessive; ?Polymicrogyria, bilateral temporooccipital, 612691 (3), Autosomal recessive; Charcot-Marie-Tooth disease, type 4J, 611228 (3), Autosomal recessive; Amyotrophic lateral sclerosis 11, 612577 (3), Autosomal dominant
FKBP10chr1717q21.2Bruck syndrome 1, 259450 (3), Autosomal recessive; Osteogenesis imperfecta, type XI, 610968 (3), Autosomal recessive
FKBP14chr77p15.1Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3), Autosomal recessive
FKRPchr1919q13.3Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3), Autosomal recessive
FKTNchr99q31Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3), Autosomal recessive; Cardiomyopathy, dilated, 1X, 611615 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3), Autosomal recessive
FLGchr11q21{Dermatitis, atopic, susceptibility to, 2}, 605803 (3); Ichthyosis vulgaris, 146700 (3), Autosomal recessive, Autosomal dominant
FLI1chr1111q24Bleeding disorder, platelet-type, 21, 617443 (3), Autosomal recessive, Autosomal dominant
FLNAchrXXq28Otopalatodigital syndrome, type I, 311300 (3), X-linked dominant; Congenital short bowel syndrome, 300048 (3), X-linked recessive; Otopalatodigital syndrome, type II, 304120 (3), X-linked dominant; Intestinal pseudoobstruction, neuronal, 300048 (3), X-linked recessive; Melnick-Needles syndrome, 309350 (3), X-linked dominant; Cardiac valvular dysplasia, X-linked, 314400 (3), X-linked; ?FG syndrome 2, 300321 (3), X-linked; Heterotopia, periventricular, 1, 300049 (3), X-linked dominant; Terminal osseous dysplasia, 300244 (3), X-linked dominant; Frontometaphyseal dysplasia 1, 305620 (3), X-linked recessive
FLNBchr33p14.3Larsen syndrome, 150250 (3), Autosomal dominant; Atelosteogenesis, type I, 108720 (3), Autosomal dominant; Boomerang dysplasia, 112310 (3), Autosomal dominant; Spondylocarpotarsal synostosis syndrome, 272460 (3), Autosomal recessive; Atelosteogenesis, type III, 108721 (3), Autosomal dominant
FLVCR1chr11q31.3Ataxia, posterior column, with retinitis pigmentosa, 609033 (3), Autosomal recessive
FLVCR2chr1414q24.3Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3), Autosomal recessive
FMN2chr11q43Mental retardation, autosomal recessive 47, 616193 (3), Autosomal recessive
FMO3chr11q23-q25Trimethylaminuria, 602079 (3), Autosomal recessive
FMR1chrXXq27.3Premature ovarian failure 1, 311360 (3), X-linked; Fragile X tremor/ataxia syndrome, 300623 (3), X-linked dominant; Fragile X syndrome, 300624 (3), X-linked dominant
FOLR1chr1111q13.3-q13.5Neurodegeneration due to cerebral folate transport deficiency, 613068 (3), Autosomal recessive
FOXE1chr99q22Bamforth-Lazarus syndrome, 241850 (3), Autosomal recessive; {Thyroid cancer, nonmedullary, 4}, 616534 (3), Autosomal dominant
FOXE3chr11p32Cataract 34, multiple types, 612968 (3); Anterior segment dysgenesis 2, multiple subtypes, 610256 (3), Autosomal recessive; {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3), Autosomal dominant
FOXG1chr1414q13Rett syndrome, congenital variant, 613454 (3), Autosomal dominant
FOXI1chr55q34Enlarged vestibular aqueduct, 600791 (3), Autosomal recessive
FOXL2chr33q23Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3), Autosomal recessive, Autosomal dominant; Premature ovarian failure 3, 608996 (3), Autosomal dominant; Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3), Autosomal recessive, Autosomal dominant
FOXN1chr1717q11-q12T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, 618806 (3); T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3), Autosomal recessive
FOXP3chrXXp11.23-q13.3Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3), X-linked recessive
FOXRED1chr1111q24.2Mitochondrial complex I deficiency, nuclear type 19, 618241 (3), Autosomal recessive
FRAS1chr44q21Fraser syndrome 1, 219000 (3), Autosomal recessive
FREM1chr99p22.3Manitoba oculotrichoanal syndrome, 248450 (3), Autosomal recessive; Trigonocephaly 2, 614485 (3), Autosomal dominant; Bifid nose with or without anorectal and renal anomalies, 608980 (3)
FREM2chr1313q13.3Fraser syndrome 2, 617666 (3), Autosomal recessive; Cryptophthalmos, unilateral or bilateral, isolated, 123570 (3), Autosomal recessive
FRMPD4chrXXp22.2Mental retardation, X-linked 104, 300983 (3), X-linked
FRRS1Lchr99q31.3Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive
FSHBchr1111p13Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3), Autosomal recessive
FSHRchr22p21-p16Ovarian hyperstimulation syndrome, 608115 (3), Autosomal dominant; Ovarian dysgenesis 1, 233300 (3), Autosomal recessive; Ovarian response to FSH stimulation, 276400 (3), Autosomal recessive
FTCDchr2121q22.3Glutamate formiminotransferase deficiency, 229100 (3), Autosomal recessive
FTLchr1919q13.3-q13.4Hyperferritinemia- cataract syndrome, 600886 (3), Autosomal dominant; Neurodegeneration with brain iron accumulation 3, 606159 (3), Autosomal dominant; L-ferritin deficiency, dominant and recessive, 615604 (3), Autosomal recessive, Autosomal dominant
FTOchr1616q12.2Growth retardation, developmental delay, facial dysmorphism, 612938 (3), Autosomal recessive; {Obesity, susceptibility to, BMIQ14}, 612460 (3), Autosomal recessive
FTSJ1chrXXp11.23Mental retardation, X-linked 9/44, 309549 (3), X-linked recessive
FUCA1chr11p34Fucosidosis, 230000 (3), Autosomal recessive
FUT1chr1919q13.3[Bombay phenotype], 616754 (3), Autosomal recessive
FUT2chr1919q13.3{Vitamin B12 plasma level QTL1}, 612542 (3); [Bombay phenotype, digenic], 616754 (3), Autosomal recessive; {Norwalk virus infection, resistance to} (3)
FUT8chr1414q23Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3), Autosomal recessive
FXNchr99q13Friedreich ataxia with retained reflexes, 229300 (3), Autosomal recessive; Friedreich ataxia, 229300 (3), Autosomal recessive
FYCO1chr33p21.3Cataract 18, autosomal recessive, 610019 (3), Autosomal recessive
FZD6chr88q22.3-q23.1Nail disorder, nonsyndromic congenital, 1, 161050 (3), Autosomal recessive
G6PCchr1717q21Glycogen storage disease Ia, 232200 (3), Autosomal recessive
G6PC3chr1717q21Dursun syndrome, 612541 (3), Autosomal recessive; Neutropenia, severe congenital 4, autosomal recessive, 612541 (3), Autosomal recessive
G6PDchrXXq28Hemolytic anemia, G6PD deficient (favism), 300908 (3), X-linked dominant; {Resistance to malaria due to G6PD deficiency}, 611162 (3)
GAAchr1717q25.2-q25.3Glycogen storage disease II, 232300 (3), Autosomal recessive
GAD1chr22q31?Cerebral palsy, spastic quadriplegic, 1, 603513 (3), Autosomal recessive
GALCchr1414q31Krabbe disease, 245200 (3), Autosomal recessive
GALEchr11p36-p35Galactose epimerase deficiency, 230350 (3), Autosomal recessive
GALK1chr1717q24Galactokinase deficiency with cataracts, 230200 (3), Autosomal recessive
GALNSchr1616q24.3Mucopolysaccharidosis IVA, 253000 (3), Autosomal recessive
GALNT2chr11q41-q42Congenital disorder of glycosylation, type IIt, 618885 (3), Autosomal recessive
GALNT3chr22q24-q31Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3), Autosomal recessive
GALTchr99p13Galactosemia, 230400 (3), Autosomal recessive
GAMTchr1919p13.3Cerebral creatine deficiency syndrome 2, 612736 (3), Autosomal recessive
GANchr1616q24.1Giant axonal neuropathy-1, 256850 (3), Autosomal recessive
GAS2L2chr1717q12?Ciliary dyskinesia, primary, 41, 618449 (3), Autosomal recessive
GATA1chrXXp11.23Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3), X-linked recessive; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3), X-linked recessive; Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3), X-linked recessive
GATA5chr2020q13.2-q13.3Congenital heart defects, multiple types, 5, 617912 (3), Autosomal recessive, Autosomal dominant
GATAD1chr77q21.2?Cardiomyopathy, dilated, 2B, 614672 (3), Autosomal recessive
GATMchr1515q21.1Cerebral creatine deficiency syndrome 3, 612718 (3), Autosomal recessive; Fanconi renotubular syndrome 1, 134600 (3), Autosomal dominant
GBAchr11q21Gaucher disease, type III, 231000 (3), Autosomal recessive; {Parkinson disease, late-onset, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant; Gaucher disease, type IIIC, 231005 (3), Autosomal recessive; Gaucher disease, type I, 230800 (3), Autosomal recessive; Gaucher disease, perinatal lethal, 608013 (3), Autosomal recessive; Gaucher disease, type II, 230900 (3), Autosomal recessive; {Lewy body dementia, susceptibility to}, 127750 (3), Autosomal dominant
GBA2chr99p13.3Spastic paraplegia 46, autosomal recessive, 614409 (3), Autosomal recessive
GBE1chr33p12Polyglucosan body disease, adult form, 263570 (3), Autosomal recessive; Glycogen storage disease IV, 232500 (3), Autosomal recessive
GCDHchr1919p13.2Glutaricaciduria, type I, 231670 (3), Autosomal recessive
GCH1chr1414q22.1-q22.2Hyperphenylalaninemia, BH4-deficient, B, 233910 (3), Autosomal recessive; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3), Autosomal recessive, Autosomal dominant
GCKchr77p15-p13Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3), Autosomal dominant; MODY, type II, 125851 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 1, 606176 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3), Autosomal dominant
GCLCchr66p12Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3), Autosomal recessive; {Myocardial infarction, susceptibility to}, 608446 (3)
GCNT2chr66p24-p23Adult i phenotype without cataract, 110800 (3), Autosomal dominant; Cataract 13 with adult i phenotype, 116700 (3), Autosomal recessive; [Blood group, Ii], 110800 (3), Autosomal dominant
GCSHchr1616q24?Glycine encephalopathy, 605899 (3), Autosomal recessive
GDAP1chr88q21.11Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3), Autosomal recessive; Charcot-Marie-Tooth disease, type 4A, 214400 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3), Autosomal recessive
GDF1chr1919p12Right atrial isomerism (Ivemark), 208530 (3), Autosomal recessive; Congenital heart defects, multiple types, 6, 613854 (3), Autosomal dominant
GDF5chr2020q11.2?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3), Autosomal recessive; Symphalangism, proximal, 1B, 615298 (3), Autosomal dominant; Brachydactyly, type A1, C, 615072 (3), Autosomal recessive, Autosomal dominant; Chondrodysplasia, Grebe type, 200700 (3), Autosomal recessive; Brachydactyly, type A2, 112600 (3), Autosomal dominant; Du Pan syndrome, 228900 (3), Autosomal recessive; {Osteoarthritis-5}, 612400 (3); Brachydactyly, type C, 113100 (3), Autosomal dominant; Multiple synostoses syndrome 2, 610017 (3), Autosomal dominant
GDF6chr88q22.1Leber congenital amaurosis 17, 615360 (3), Autosomal recessive; Klippel-Feil syndrome 1, autosomal dominant, 118100 (3), Autosomal dominant; Multiple synostoses syndrome 4, 617898 (3), Autosomal dominant; Microphthalmia with coloboma 6, digenic, 613703 (3), Autosomal dominant; Microphthalmia, isolated 4, 613094 (3)
GDF9chr55q31.1?Premature ovarian failure 14, 618014 (3), Autosomal recessive
GDI1chrXXq28Mental retardation, X-linked 41, 300849 (3), X-linked dominant
GEMIN4chr1717p13.3Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3), Autosomal recessive
GFI1Bchr99q34.13Bleeding disorder, platelet-type, 17, 187900 (3), Autosomal recessive, Autosomal dominant
GFM1chr33q25.32Combined oxidative phosphorylation deficiency 1, 609060 (3), Autosomal recessive
GFM2chr55q13Combined oxidative phosphorylation deficiency 39, 618397 (3), Autosomal recessive
GFPT1chr22p13Myasthenia, congenital, 12, with tubular aggregates, 610542 (3), Autosomal recessive
GGCXchr22p12Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3), Autosomal recessive; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)
GH1chr1717q22-q24Kowarski syndrome, 262650 (3), Autosomal recessive; Growth hormone deficiency, isolated, type IA, 262400 (3), Autosomal recessive; Growth hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type II, 173100 (3), Autosomal dominant
GHRchr55p13-p12{Hypercholesterolemia, familial, modifier of}, 143890 (3), Autosomal dominant; Increased responsiveness to growth hormone, 604271 (3), Autosomal dominant; Laron dwarfism, 262500 (3), Autosomal recessive; Growth hormone insensitivity, partial, 604271 (3), Autosomal dominant
GHRHRchr77p15-p14Growth hormone deficiency, isolated, type IV, 618157 (3), Autosomal recessive
GHRLchr33p26-p25{Obesity, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant
GHSRchr33q26.3Growth hormone deficiency, isolated partial, 615925 (3), Autosomal recessive, Autosomal dominant
GIPC3chr1919p13.3Deafness, autosomal recessive 15, 601869 (3), Autosomal recessive
GJA1chr65q22.31Erythrokeratodermia variabilis et progressiva 3, 617525 (3), Autosomal dominant; Craniometaphyseal dysplasia, autosomal recessive, 218400 (3), Autosomal recessive; Atrioventricular septal defect 3, 600309 (3), Autosomal dominant; Oculodentodigital dysplasia, 164200 (3), Autosomal dominant; Syndactyly, type III, 186100 (3), Autosomal dominant; Oculodentodigital dysplasia, autosomal recessive, 257850 (3), Autosomal recessive; Hypoplastic left heart syndrome 1, 241550 (3), Autosomal recessive; Palmoplantar keratoderma with congenital alopecia, 104100 (3), Autosomal dominant
GJB2chr1313q11-q12Deafness, autosomal dominant 3A, 601544 (3), Autosomal dominant; Deafness, autosomal recessive 1A, 220290 (3), Digenic dominant, Autosomal recessive; Bart-Pumphrey syndrome, 149200 (3), Autosomal dominant; Vohwinkel syndrome, 124500 (3), Autosomal dominant; Keratoderma, palmoplantar, with deafness, 148350 (3), Autosomal dominant; Keratitis-ichthyosis-deafness syndrome, 148210 (3), Autosomal dominant; Hystrix-like ichthyosis with deafness, 602540 (3), Autosomal dominant
GJB3chr11p35.1Deafness, autosomal dominant 2B, 612644 (3), Autosomal dominant; Deafness, autosomal recessive (3); Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, digenic, GJB2/GJB3, 220290 (3), Digenic dominant, Autosomal recessive; Erythrokeratodermia variabilis et progressiva 1, 133200 (3), Autosomal recessive, Autosomal dominant
GJB6chr1313q12Deafness, autosomal dominant 3B, 612643 (3), Autosomal dominant; Deafness, autosomal recessive 1B, 612645 (3), Autosomal recessive; Deafness, digenic GJB2/GJB6, 220290 (3), Digenic dominant, Autosomal recessive; Ectodermal dysplasia 2, Clouston type, 129500 (3), Autosomal dominant
GJC2chr11q42.13Spastic paraplegia 44, autosomal recessive, 613206 (3), Autosomal recessive; Lymphatic malformation 3, 613480 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 2, 608804 (3), Autosomal recessive
GKchrXXp21.3-p21.2Glycerol kinase deficiency, 307030 (3), X-linked recessive
GLAchrXXq22Fabry disease, 301500 (3), X-linked; Fabry disease, cardiac variant, 301500 (3), X-linked
GLB1chr33p21.33GM1-gangliosidosis, type III, 230650 (3), Autosomal recessive; GM1-gangliosidosis, type I, 230500 (3), Autosomal recessive; Mucopolysaccharidosis type IVB (Morquio), 253010 (3), Autosomal recessive; GM1-gangliosidosis, type II, 230600 (3), Autosomal recessive
GLDCchr99p22Glycine encephalopathy, 605899 (3), Autosomal recessive
GLE1chr99q34Congenital arthrogryposis with anterior horn cell disease, 611890 (3), Autosomal recessive; Lethal congenital contracture syndrome 1, 253310 (3), Autosomal recessive
GLI1chr1212q13.2-q13.3Polydactyly, postaxial, type A8, 618123 (3), Autosomal recessive; Polydactyly, preaxial I, 174400 (3), Autosomal recessive
GLIS2chr1616p13.3Nephronophthisis 7, 611498 (3)
GLIS3chr99p24.3-p23Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3), Autosomal recessive
GLRA1chr55q32Hyperekplexia 1, 149400 (3), Autosomal recessive, Autosomal dominant
GLRBchr44q31.3Hyperekplexia 2, 614619 (3), Autosomal recessive
GLRX5chr1414q32Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3), Autosomal recessive; Spasticity, childhood-onset, with hyperglycinemia, 616859 (3), Autosomal recessive
GLSchr22q32-q34?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339 (3), Autosomal dominant; Global developmental delay, progressive ataxia, and elevated glutamine, 618412 (3), Autosomal recessive; Epileptic encephalopathy, early infantile, 71, 618328 (3), Autosomal recessive
GLULchr11q31Glutamine deficiency, congenital, 610015 (3), Autosomal recessive
GLYCTKchr33p21D-glyceric aciduria, 220120 (3), Autosomal recessive
GM2Achr55q31.3-q33.1GM2-gangliosidosis, AB variant, 272750 (3), Autosomal recessive
GMPPAchr22q35Alacrima, achalasia, and mental retardation syndrome, 615510 (3), Autosomal recessive
GMPPBchr33p21.31Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3), Autosomal recessive
GNAT1chr33p21Night blindness, congenital stationary, type 1G, 616389 (3), Autosomal recessive; Night blindness, congenital stationary, autosomal dominant 3, 610444 (3), Autosomal dominant
GNB3chr1212p13{Hypertension, essential, susceptibility to}, 145500 (3), Multifactorial; Night blindness, congenital stationary, type 1H, 617024 (3), Autosomal recessive
GNB5chr1515q21.2Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3), Autosomal recessive
GNEchr99p13.3Sialuria, 269921 (3), Autosomal dominant; Nonaka myopathy, 605820 (3), Autosomal recessive
GNMTchr66p12Glycine N-methyltransferase deficiency, 606664 (3), Autosomal recessive
GNPATchr11q42Rhizomelic chondrodysplasia punctata, type 2, 222765 (3), Autosomal recessive
GNPTABchr1212q23.3Mucolipidosis II alpha/beta, 252500 (3), Autosomal recessive; Mucolipidosis III alpha/beta, 252600 (3), Autosomal recessive
GNPTGchr1616pMucolipidosis III gamma, 252605 (3), Autosomal recessive
GNRH1chr88p21-p11.2?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3), Autosomal recessive
GNRHRchr44q21.2Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3), Autosomal recessive
GNSchr1212q14Mucopolysaccharidosis type IIID, 252940 (3), Autosomal recessive
GORABchr11q24.2Geroderma osteodysplasticum, 231070 (3), Autosomal recessive
GOSR2chr1717q21Epilepsy, progressive myoclonic 6, 614018 (3), Autosomal recessive
GP1BAchr1717pter-p12Bernard-Soulier syndrome, type A1 (recessive), 231200 (3), Autosomal recessive; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3), Autosomal recessive; von Willebrand disease, platelet-type, 177820 (3), Autosomal dominant; Bernard-Soulier syndrome, type A2 (dominant), 153670 (3), Autosomal dominant
GP1BBchr2222q11.2Giant platelet disorder, isolated, 231200 (3), Autosomal recessive; Bernard-Soulier syndrome, type B, 231200 (3), Autosomal recessive
GP6chr1919q13.4Bleeding disorder, platelet-type, 11, 614201 (3), Autosomal recessive
GP9chr33q21Bernard-Soulier syndrome, type C, 231200 (3), Autosomal recessive
GPC3chrXXq26Simpson-Golabi-Behmel syndrome, type 1, 312870 (3), X-linked recessive; Wilms tumor, somatic, 194070 (3)
GPC4chrXXq26Keipert syndrome, 301026 (3), X-linked recessive
GPC6chr1313q32Omodysplasia 1, 258315 (3), Autosomal recessive
GPD1chr1212q12-q13Hypertriglyceridemia, transient infantile, 614480 (3), Autosomal recessive
GPHNchr1414q24Molybdenum cofactor deficiency C, 615501 (3), Autosomal recessive
GPIchr1919q13.1Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3), Autosomal recessive
GPIHBP1chr88q24.3Hyperlipoproteinemia, type 1D, 615947 (3), Autosomal recessive
GPNMBchr77p15.3Amyloidosis, primary localized cutaneous, 3, 617920 (3), Autosomal recessive
GPR143chrXXp22.3Ocular albinism, type I, Nettleship-Falls type, 300500 (3), X-linked; Nystagmus 6, congenital, X-linked, 300814 (3), X-linked recessive
GPR179chr1717q12Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3), Autosomal recessive
GPR68chr1414q31Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3), Autosomal recessive
GPSM2chr11p13.1Chudley-McCullough syndrome, 604213 (3), Autosomal recessive
GPT2chr1616q12.1Mental retardation, autosomal recessive 49, 616281 (3), Autosomal recessive
GPX1chr33p21.3Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1), Autosomal recessive
GPX4chr1919p13.3Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3), Autosomal recessive
GRHL2chr88q22Deafness, autosomal dominant 28, 608641 (3), Autosomal dominant; Corneal dystrophy, posterior polymorphous, 4, 618031 (3), Autosomal dominant; Ectodermal dysplasia/short stature syndrome, 616029 (3), Autosomal recessive
GRHPRchr99cenHyperoxaluria, primary, type II, 260000 (3), Autosomal recessive
GRIA3chrXXq25-q26Mental retardation, X-linked 94, 300699 (3), X-linked recessive
GRID2chr44q22Spinocerebellar ataxia, autosomal recessive 18, 616204 (3), Autosomal recessive
GRIK2chr66q21Mental retardation, autosomal recessive, 6, 611092 (3), Autosomal recessive
GRIN1chr99q34.3Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3), Autosomal recessive; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3), Autosomal dominant
GRIP1chr1212q14.3Fraser syndrome 3, 617667 (3), Autosomal recessive
GRM1chr66q24Spinocerebellar ataxia 44, 617691 (3), Autosomal dominant; Spinocerebellar ataxia, autosomal recessive 13, 614831 (3), Autosomal recessive
GRM6chr55q35Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3), Autosomal recessive
GRM7chr33p26.1Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities, 618922 (3), Autosomal recessive
GRNchr1717q21.32Ceroid lipofuscinosis, neuronal, 11, 614706 (3), Autosomal recessive; Aphasia, primary progressive, 607485 (3), Autosomal dominant; Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3), Autosomal dominant
GRXCR1chr44p13Deafness, autosomal recessive 25, 613285 (3), Autosomal recessive
GRXCR2chr55q32?Deafness, autosomal recessive 101, 615837 (3), Autosomal recessive
GSCchr1414q32.1Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3), Autosomal recessive
GSRchr88p21.1Hemolytic anemia due to glutathione reductase deficiency, 618660 (3), Autosomal recessive
GSSchr2020q11.2Glutathione synthetase deficiency, 266130 (3), Autosomal recessive; Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3), Autosomal recessive
GSTZ1chr1414q24.3[Maleylacetoacetate isomerase deficiency], 617596 (3), Autosomal recessive
GTF2H5chr66q25.3Trichothiodystrophy 3, photosensitive, 616395 (3)
GTPBP3chr1919p13.11Combined oxidative phosphorylation deficiency 23, 616198 (3), Autosomal recessive
GUCY2Cchr1212p12Diarrhea 6, 614616 (3), Autosomal dominant; Meconium ileus, 614665 (3), Autosomal recessive
GUCY2Dchr1717p13.1Cone-rod dystrophy 6, 601777 (3), Autosomal recessive, Autosomal dominant; Leber congenital amaurosis 1, 204000 (3), Autosomal recessive; Night blindness, congenital stationary, type 1I, 618555 (3), Autosomal recessive; ?Choroidal dystrophy, central areolar 1, 215500 (3), Autosomal dominant
GUSBchr77q21.11Mucopolysaccharidosis VII, 253220 (3), Autosomal recessive
GYG1chr33q24-q25.1?Glycogen storage disease XV, 613507 (3), Autosomal recessive; Polyglucosan body myopathy 2, 616199 (3), Autosomal recessive
GYS1chr1919q13.3Glycogen storage disease 0, muscle, 611556 (3), Autosomal recessive
GYS2chr1212p12.2Glycogen storage disease 0, liver, 240600 (3), Autosomal recessive
H6PDchr11p36Cortisone reductase deficiency 1, 604931 (3), Autosomal recessive
HACE1chr66q21Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive
HADHchr44q22-q263-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3), Autosomal recessive; Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3), Autosomal recessive
HADHAchr22p23LCHAD deficiency, 609016 (3), Autosomal recessive; HELLP syndrome, maternal, of pregnancy, 609016 (3), Autosomal recessive; Mitochondrial trifunctional protein deficiency, 609015 (3), Autosomal recessive; Fatty liver, acute, of pregnancy, 609016 (3), Autosomal recessive
HADHBchr22p23Trifunctional protein deficiency, 609015 (3), Autosomal recessive
HALchr1212q22-q23[Histidinemia], 235800 (3), Autosomal recessive, Autosomal dominant
HAMPchr1919q13Hemochromatosis, type 2B, 613313 (3), Autosomal recessive
HARSchr55q31.3?Perrault syndrome 2, 614926 (3), Autosomal recessive
HARS2chr55q31.3?Perrault syndrome 2, 614926 (3), Autosomal recessive
HAX1chr11q21.3Neutropenia, severe congenital 3, autosomal recessive, 610738 (3), Autosomal recessive
HBA1chr1616pter-p13.3Hemoglobin H disease, nondeletional, 613978 (3); Thalassemias, alpha-, 604131 (3); Erythrocytosis, 7, 617981 (3); Methemoglobinemia, alpha type, 617973 (3); Heinz body anemias, alpha-, 140700 (3), Autosomal dominant
HBA2chr1616pter-p13.3Thalassemia, alpha-, 604131 (3); Erythrocytosis 7, 617981 (3); Heinz body anemia, 140700 (3), Autosomal dominant; Hemoglobin H disease, deletional and nondeletional, 613978 (3)
HBBchr1111p15.5Thalassemia, beta, 613985 (3); Methmoglobinemia, beta type, 617971 (3); Erythrocytosis 6, 617980 (3); Heinz body anemia, 140700 (3), Autosomal dominant; Delta-beta thalassemia, 141749 (3), Autosomal dominant; Thalassemia-beta, dominant inclusion-body, 603902 (3); Hereditary persistence of fetal hemoglobin, 141749 (3), Autosomal dominant; {Malaria, resistance to}, 611162 (3); Sickle cell anemia, 603903 (3), Autosomal recessive
HCFC1chrXXq28Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3), X-linked recessive
HEPACAMchr1111q24Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3), Autosomal recessive; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3), Autosomal dominant
HERC1chr1515q22.31Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3), Autosomal recessive
HERC2chr1515q13.1[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive; Mental retardation, autosomal recessive 38, 615516 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive
HES7chr1717p13.2Spondylocostal dysostosis 4, autosomal recessive, 613686 (3), Autosomal recessive
HESX1chr33p21.2-p21.1Pituitary hormone deficiency, combined, 5, 182230 (3), Autosomal recessive, Autosomal dominant; Septooptic dysplasia, 182230 (3), Autosomal recessive, Autosomal dominant; Growth hormone deficiency with pituitary anomalies, 182230 (3), Autosomal recessive, Autosomal dominant
HEXAchr1515q23-q24GM2-gangliosidosis, several forms, 272800 (3), Autosomal recessive; Tay-Sachs disease, 272800 (3), Autosomal recessive; [Hex A pseudodeficiency], 272800 (3), Autosomal recessive
HEXBchr55q13Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3), Autosomal recessive
HFEchr66p21.3{Porphyria variegata, susceptibility to}, 176200 (3), Autosomal dominant; {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3), Autosomal recessive, Autosomal dominant; [Transferrin serum level QTL2], 614193 (3); {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant; Hemochromatosis, 235200 (3), Autosomal recessive
HFM1chr11p22.2Premature ovarian failure 9, 615724 (3), Autosomal recessive
HGDchr33q13.33Alkaptonuria, 203500 (3), Autosomal recessive
HGFchr77q21.1Deafness, autosomal recessive 39, 608265 (3), Autosomal recessive
HGSNATchr88p11.1Retinitis pigmentosa 73, 616544 (3), Autosomal recessive; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3), Autosomal recessive
HIBCHchr22q32.23-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3), Autosomal recessive
HINT1chr55q31.2Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3), Autosomal recessive
HJV/HFE2chr11q21.1Hemochromatosis, type 2A, 602390 (3), Autosomal recessive
HK1chr1010q22Hemolytic anemia due to hexokinase deficiency, 235700 (3), Autosomal recessive; Neuropathy, hereditary motor and sensory, Russe type, 605285 (3), Autosomal recessive; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 (3), Autosomal dominant; Retinitis pigmentosa 79, 617460 (3), Autosomal dominant
HLA-DQA1chr66p21.3{Celiac disease, susceptibility to}, 212750 (3), Multifactorial, Autosomal recessive
HLA-DQB1chr66p21.3{Multiple sclerosis, susceptibility to, 1}, 126200 (3), Multifactorial; {Celiac disease, susceptibility to}, 212750 (3), Multifactorial, Autosomal recessive; {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3), Autosomal dominant
HLCSchr2121q22.1Holocarboxylase synthetase deficiency, 253270 (3), Autosomal recessive
HMBSchr 1111q23.3

Encephalopathy, porphyria-related, 620704 (3), Autosomal recessive; Leukoencephalopathy, porphyria-related, 620711 (3) Autosomal recessive

HMGCLchr11pter-p33HMG-CoA lyase deficiency, 246450 (3), Autosomal recessive
HMGCS2chr11p13-p12HMG-CoA synthase-2 deficiency, 605911 (3), Autosomal recessive
HMX1chr44p16.1Oculoauricular syndrome, 612109 (3), Autosomal recessive
HNF1Achr1212q24.2{Diabetes mellitus, insulin-dependent}, 222100 (3), Autosomal recessive; MODY, type III, 600496 (3), Autosomal dominant; Hepatic adenoma, somatic, 142330 (3); Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 20, 612520 (3); {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3), Autosomal dominant
HNMTchr22q22{Asthma, susceptibility to}, 600807 (3), Autosomal dominant; Mental retardation, autosomal recessive 51, 616739 (3), Autosomal recessive
HOGA1chr1010q24.2Hyperoxaluria, primary, type III, 613616 (3), Autosomal recessive
HOXA1chr77p15.3Athabaskan brainstem dysgenesis syndrome, 601536 (3); Bosley-Salih-Alorainy syndrome, 601536 (3)
HOXA2chr77p15-p14Microtia with or without hearing impairment (AD), 612290 (3), Autosomal recessive, Autosomal dominant; ?Microtia, hearing impairment, and cleft palate (AR), 612290 (3), Autosomal recessive, Autosomal dominant
HOXB1chr1717q21-q22Facial paresis, hereditary congenital, 3, 614744 (3), Autosomal recessive
HOXC13chr1212q13Ectodermal dysplasia 9, hair/nail type, 614931 (3), Autosomal recessive
HPCAchr11p35-p34.2Dystonia 2, torsion, autosomal recessive, 224500 (3), Autosomal recessive
HPDchr1212q24-qterTyrosinemia, type III, 276710 (3), Autosomal recessive; Hawkinsinuria, 140350 (3), Autosomal dominant
HPGDchr44q34-q35Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3), Autosomal recessive; ?Digital clubbing, isolated congenital, 119900 (3), Autosomal recessive; Cranioosteoarthropathy, 259100 (3), Autosomal recessive
HPRT1chrXXq26.2HPRT-related gout, 300323 (3), X-linked recessive; Lesch-Nyhan syndrome, 300322 (3), X-linked recessive
HPS1chr1010q23.1Hermansky-Pudlak syndrome 1, 203300 (3), Autosomal recessive
HPS3chr33q24Hermansky-Pudlak syndrome 3, 614072 (3), Autosomal recessive
HPS4chr2222q11.2-q12.2Hermansky-Pudlak syndrome 4, 614073 (3), Autosomal recessive
HPS5chr1111p15-p13Hermansky-Pudlak syndrome 5, 614074 (3), Autosomal recessive
HPS6chr1010q24.32Hermansky-Pudlak syndrome 6, 614075 (3), Autosomal recessive
HPSE2chr1010q23-q24Urofacial syndrome 1, 236730 (3), Autosomal recessive
HRchr88p21.2Hypotrichosis 4, 146550 (3), Autosomal dominant; Alopecia universalis, 203655 (3), Autosomal recessive; Atrichia with papular lesions, 209500 (3), Autosomal recessive
HSD11B2chr1616q22Apparent mineralocorticoid excess, 218030 (3), Autosomal recessive
HSD17B10chrXXp11.2HSD10 mitochondrial disease, 300438 (3), X-linked dominant
HSD17B3chr99q22Pseudohermaphroditism, male, with gynecomastia, 264300 (3), Autosomal recessive
HSD17B4chr55q23.1D-bifunctional protein deficiency, 261515 (3), Autosomal recessive; Perrault syndrome 1, 233400 (3), Autosomal recessive
HSD3B2chr11p13.1Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3), Autosomal recessive
HSD3B7chr1616p12-p11.2Bile acid synthesis defect, congenital, 1, 607765 (3), Autosomal recessive
HSPA9chr55q31.2Even-plus syndrome, 616854 (3), Autosomal recessive; Anemia, sideroblastic, 4, 182170 (3), Autosomal dominant
HSPD1chr22q33.1Spastic paraplegia 13, autosomal dominant, 605280 (3), Autosomal dominant; Leukodystrophy, hypomyelinating, 4, 612233 (3), Autosomal recessive
HSPG2chr11p36.1Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3), Autosomal recessive; Schwartz-Jampel syndrome, type 1, 255800 (3), Autosomal recessive
HTRA1chr1010q25.3-q26.2{Macular degeneration, age-related, neovascular type}, 610149 (3); {Macular degeneration, age-related, 7}, 610149 (3); Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3), Autosomal dominant; CARASIL syndrome, 600142 (3), Autosomal recessive
HTRA2chr22p12{Parkinson disease 13}, 610297 (3); 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive
HTTchr44p16.3Huntington disease, 143100 (3), Autosomal dominant; Lopes-Maciel-Rodan syndrome, 617435 (3), Autosomal recessive
HUWE1chrXXp11.2Mental retardation, X-linked syndromic, Turner type, 309590 (3), X-linked
HYAL1chr33p21.3-p21.2?Mucopolysaccharidosis type IX, 601492 (3), Autosomal recessive
HYDINchr1616q22.2Ciliary dyskinesia, primary, 5, 608647 (3), Autosomal recessive
HYLS1chr1111q24.2Hydrolethalus syndrome, 236680 (3), Autosomal recessive
IARS2chr11q41?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3), Autosomal recessive
IBA57chr11q42.13?Spastic paraplegia 74, autosomal recessive, 616451 (3), Autosomal recessive; Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive
ICKchr66p12.1 Endocrine-cerebroosteodysplasia
ICOSchr22q33
IDH3Bchr2020p13Retinitis pigmentosa 46, 612572 (3)
IDSchrXXq28Mucopolysaccharidosis II, 309900 (3), X-linked recessive
IDUAchr44p16.3Mucopolysaccharidosis Ih/s, 607015 (3), Autosomal recessive; Mucopolysaccharidosis Ih, 607014 (3), Autosomal recessive; Mucopolysaccharidosis Is, 607016 (3), Autosomal recessive
IER3IP1chr1818q21.1Microcephaly, epilepsy, and diabetes syndrome, 614231 (3), Autosomal recessive
IFNAR2chr2121q22.1?Immunodeficiency 45, 616669 (3), Autosomal recessive; {Hepatitis B virus, susceptibility to}, 610424 (3)
IFNGchr1212q14?Immunodeficiency 69, mycobacteriosis, 618963 (3), Autosomal recessive; {AIDS, rapid progression to}, 609423 (3); {TSC2 angiomyolipomas, renal, modifier of}, 613254 (3), Autosomal dominant; {Hepatitis C virus, response to therapy of}, 609532 (3); {Aplastic anemia}, 609135 (3); {Tuberculosis, protection against}, 607948 (3)
IFNGR1chr66q23.3Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3), Autosomal recessive; {Tuberculosis infection, protection against}, 607948 (3); {Tuberculosis, susceptibility to}, 607948 (3); Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3), Autosomal dominant; {H. pylori infection, susceptibility to}, 600263 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3)
IFNGR2chr2121q22.1-q22.2Immunodeficiency 28, mycobacteriosis, 614889 (3), Autosomal recessive
IFT122chr33q21Cranioectodermal dysplasia 1, 218330 (3), Autosomal recessive
IFT140chr1616p13.3Retinitis pigmentosa 80, 617781 (3), Autosomal recessive; Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3), Autosomal recessive
IFT172chr22p23.3Retinitis pigmentosa 71, 616394 (3), Autosomal recessive; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3), Autosomal recessive
IFT27chr2222q12.3?Bardet-Biedl syndrome 19, 615996 (3), Autosomal recessive
IFT43chr1414q24.3?Cranioectodermal dysplasia 3, 614099 (3), Autosomal recessive; Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3), Autosomal recessive; ?Retinitis pigmentosa 81, 617871 (3), Autosomal recessive
IFT80chr33q25.33Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3), Autosomal recessive
IGBP1chrXXq13.1-q13.3Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3), X-linked recessive
IGF1chr1212q22-q24.1Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3), Autosomal recessive
IGF1Rchr1515q25-q26Insulin-like growth factor I, resistance to, 270450 (3), Autosomal recessive, Autosomal dominant
IGFALSchr1616p13.3Acid-labile subunit, deficiency of, 615961 (3)
IGFBP7chr44q12Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3), Autosomal recessive
IGHMchr1414q32.33Agammaglobulinemia 1, 601495 (3), Autosomal recessive
IGHMBP2chr1111q13.2-q13.4Neuronopathy, distal hereditary motor, type VI, 604320 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3), Autosomal recessive
IGLL1chr2222q11.21Agammaglobulinemia 2, 613500 (3), Autosomal recessive
IGSF1chrXXq25Hypothyroidism, central, and testicular enlargement, 300888 (3), X-linked recessive
IGSF3chr11p13?Lacrimal duct defect, 149700 (3), Autosomal recessive
IHHchr22q33-q35Acrocapitofemoral dysplasia, 607778 (3), Autosomal recessive; Brachydactyly, type A1, 112500 (3), Autosomal dominant
IKBKBchr88p11.2Immunodeficiency 15A, 618204 (3), Autosomal dominant; Immunodeficiency 15B, 615592 (3), Autosomal recessive
IKBKGchrXXq28Immunodeficiency 33, 300636 (3), X-linked recessive; Incontinentia pigmenti, 308300 (3), X-linked dominant; Ectodermal dysplasia and immunodeficiency 1, 300291 (3), X-linked recessive
IL10RAchr1111q23.3Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3), Autosomal recessive
IL10RBchr2121q22.1{Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3), Autosomal recessive
IL11RAchr99p13Craniosynostosis and dental anomalies, 614188 (3), Autosomal recessive
IL12Bchr55q33.3Immunodeficiency 29, mycobacteriosis, 614890 (3), Autosomal recessive
IL12RB1chr1919p13.1Immunodeficiency 30, 614891 (3), Autosomal recessive
IL17RAchr2222q11.22-q11.23Immunodeficiency 51, 613953 (3), Autosomal recessive
IL17RDchr33p14.3-p14.2Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3), Digenic dominant, Autosomal recessive, Autosomal dominant
IL1RAPL1chrXXp22.1-p21.3Mental retardation, X-linked 21/34, 300143 (3), X-linked recessive
IL1RNchr22q14.2{Gastric cancer risk after H. pylori infection}, 137215 (3), Autosomal dominant; {Microvascular complications of diabetes 4}, 612628 (3); Interleukin 1 receptor antagonist deficiency, 612852 (3), Autosomal recessive
IL21chr44q26-q27?Immunodeficiency, common variable, 11, 615767 (3), Autosomal recessive
IL21Rchr1616p11[IgE, elevated level of], 147050 (3), Autosomal dominant; Immunodeficiency 56, 615207 (3), Autosomal recessive
IL2RAchr1010p15.1Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3), Autosomal recessive; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
IL2RGchrXXq13Severe combined immunodeficiency, X-linked, 300400 (3), X-linked recessive; Combined immunodeficiency, X-linked, moderate, 312863 (3), X-linked recessive
IL36RNchr22q13Psoriasis 14, pustular, 614204 (3), Autosomal recessive
IL6chr77p21{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3), Somatic mutation; {Rheumatoid arthritis, systemic juvenile}, 604302 (3); {Diabetes, susceptibility to},, 222100 (3), Autosomal recessive; {Kaposi sarcoma, susceptibility to}, 148000 (3), Autosomal dominant; {Crohn disease-associated growth failure}, 266600 (3), Multifactorial
IL6Rchr11q21.3[Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3); [Interleukin 6, serum level of, QTL], 614752 (3); Hyper-IgE recurrent infection syndrome 5, autosomal recessive, 618944 (3), Autosomal recessive
IL6STchr55q11Hyper-IgE recurrent infection syndrome 4, autosomal recessive, 618523 (3), Autosomal recessive
IL7chr88q21.13{?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 (3), Autosomal recessive
IL7Rchr55p13Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3), Autosomal recessive
ILDR1chr33q21.1Deafness, autosomal recessive 42, 609646 (3), Autosomal recessive
IMPAD1chr88q12.1Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3), Autosomal recessive
IMPG2chr33q11.2Macular dystrophy, vitelliform, 5, 616152 (3), Autosomal dominant; Retinitis pigmentosa 56, 613581 (3), Autosomal recessive
INPP5Kchr1717p13.3Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
INPPL1chr1111q23Opsismodysplasia, 258480 (3), Autosomal recessive
INSchr1111p15.5Maturity-onset diabetes of the young, type 10, 613370 (3), Autosomal dominant; Hyperproinsulinemia, 616214 (3), Autosomal dominant; Diabetes mellitus, insulin-dependent, 2, 125852 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal, 618858 (3), Autosomal recessive, Autosomal dominant
INSRchr1919p13.2Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3), Autosomal dominant; Rabson-Mendenhall syndrome, 262190 (3), Autosomal recessive; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Leprechaunism, 246200 (3), Autosomal recessive
INTUchr44q28?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3), Autosomal recessive; ?Orofaciodigital syndrome XVII, 617926 (3), Autosomal recessive
INVSchr99q31Nephronophthisis 2, infantile, 602088 (3), Autosomal recessive
IQCB1chr33q13.33Senior-Loken syndrome 5, 609254 (3), Autosomal recessive
IQCEchr77p22.3?Polydactyly, postaxial, type A7, 617642 (3), Autosomal recessive
IRAK4chr1212q12Immunodeficiency 67, 607676 (3), Autosomal recessive
IRF7chr1111p15.5?Immunodeficiency 39, 616345 (3), Autosomal recessive
IRF8chr1616q24.1Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3), Autosomal recessive; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3), Autosomal dominant
IRF9chr1414q11.2Immunodeficiency 65, susceptibility to viral infections, 618648 (3), Autosomal recessive
IRS4chrXXq22.3Hypothyroidism, congenital, nongoitrous, 9, 301035 (3), X-linked recessive
IRX5chr1616q11.2-q13Hamamy syndrome, 611174 (3), Autosomal recessive
ISCA2chr1414q24.3Multiple mitochondrial dysfunctions syndrome 4, 616370 (3), Autosomal recessive
ISCUchr1212q24.1Myopathy with lactic acidosis, hereditary, 255125 (3), Autosomal recessive
ISG15chr11p36.33Immunodeficiency 38, 616126 (3), Autosomal recessive
ITCHchr2020q11.22-q11.23Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3), Autosomal recessive
ITGA2Bchr1717q21.32Glanzmann thrombasthenia, 273800 (3), Autosomal recessive; Thrombocytopenia, neonatal alloimmune, BAK antigen related (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant
ITGA3chr1717q21.33Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3), Autosomal recessive
ITGA6chr22q31.1Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3), Autosomal recessive
ITGA7chr1212q13Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3), Autosomal recessive
ITGA8chr1010p13Renal hypodysplasia/aplasia 1, 191830 (3), Autosomal recessive
ITGB2chr2121q22.3Leukocyte adhesion deficiency, 116920 (3), Autosomal recessive
ITGB3chr1717q21.32Purpura, posttransfusion (3); Thrombocytopenia, neonatal alloimmune (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3), Autosomal dominant; {Myocardial infarction, susceptibility to}, 608446 (3); Glanzmann thrombasthenia, 273800 (3), Autosomal recessive
ITGB4chr1717q11-qterEpidermolysis bullosa of hands and feet, 131800 (3), Autosomal dominant; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive
ITGB6chr22q24.2Amelogenesis imperfecta, type IH, 616221 (3), Autosomal recessive
ITKchr55q32Lymphoproliferative syndrome 1, 613011 (3), Autosomal recessive
ITPAchr2020p[Inosine triphosphatase deficiency], 613850 (3); Epileptic encephalopathy, early infantile, 35, 616647 (3), Autosomal recessive
ITPR1chr33p26.1Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3), Autosomal dominant; Spinocerebellar ataxia 15, 606658 (3), Autosomal dominant; Gillespie syndrome, 206700 (3), Autosomal recessive, Autosomal dominant
ITPR2chr1212p11?Anhidrosis, isolated, with normal sweat glands, 106190 (3), Autosomal recessive
ITPR3chr66pter-p21{Diabetes, type 1, susceptibility to}, 222100 (2), Autosomal recessive
IVDchr1515q14-q15Isovaleric acidemia, 243500 (3), Autosomal recessive
IYDchr66q24-q25Thyroid dyshormonogenesis 4, 274800 (3), Autosomal recessive
JAGN1chr33p25.3Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3), Autosomal recessive
JAK3chr1919p13.1SCID, autosomal recessive, T-negative/B-positive type, 600802 (3), Autosomal recessive
JAM3chr1111q25Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3), Autosomal recessive
JUPchr1717q21Arrhythmogenic right ventricular dysplasia 12, 611528 (3), Autosomal dominant; Naxos disease, 601214 (3), Autosomal recessive
KANK2chr1919p13.2Palmoplantar keratoderma and woolly hair, 616099 (3), Autosomal recessive; Nephrotic syndrome, type 16, 617783 (3), Autosomal recessive
KATNB1chr1616q21Lissencephaly 6, with microcephaly, 616212 (3), Autosomal recessive
KCNA4chr1111q13.4-q14.1Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3), Autosomal recessive
KCNE1chr2121q22.1-q22.2Long QT syndrome 5, 613695 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome 2, 612347 (3), Autosomal recessive
KCNJ1chr1111q24Bartter syndrome, type 2, 241200 (3), Autosomal recessive
KCNJ10chr11q23.2Enlarged vestibular aqueduct, digenic, 600791 (3), Autosomal recessive; SESAME syndrome, 612780 (3), Autosomal recessive
KCNJ11chr1111p15.1Maturity-onset diabetes of the young, type 13, 616329 (3), Autosomal dominant; {Diabetes mellitus, type 2, susceptibility to}, 125853 (3), Autosomal dominant; Diabetes, permanent neonatal 2, with or without neurologic features, 618856 (3), Autosomal dominant; Diabetes mellitus, transient neonatal, 3, 610582 (3), Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3), Autosomal recessive
KCNJ13chr22q37Leber congenital amaurosis 16, 614186 (3), Autosomal recessive; Snowflake vitreoretinal degeneration, 193230 (3), Autosomal dominant
KCNMA1chr1010q22.3Liang-Wang syndrome, 618729 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 16}, 618596 (3), Autosomal dominant; Cerebellar atrophy, developmental delay, and seizures, 617643 (3), Autosomal recessive; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3), Autosomal dominant
KCNQ1chr1111p15.5Long QT syndrome 1, 192500 (3), Autosomal dominant; Jervell and Lange-Nielsen syndrome, 220400 (3), Autosomal recessive; Short QT syndrome 2, 609621 (3), Autosomal dominant; {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3), Autosomal dominant; Atrial fibrillation, familial, 3, 607554 (3), Autosomal dominant
KCNV2chr99p24.2Retinal cone dystrophy 3B, 610356 (3), Autosomal recessive
KCTD7chr77q11.21Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3), Autosomal recessive
KDM5Bchr11q32Mental retardation, autosomal recessive 65, 618109 (3), Autosomal recessive
KDM5CchrXXp11.22-p11.21Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3), X-linked recessive
KDSRchr1818q21.3Erythrokeratodermia variabilis et progressiva 4, 617526 (3), Autosomal recessive
KERAchr1212q22Cornea plana 2, autosomal recessive, 217300 (3), Autosomal recessive
KHDC3Lchr66q13Hydatidiform mole, recurrent, 2, 614293 (3), Autosomal recessive
KHKchr22p23.3-p23.2[Fructosuria], 229800 (3), Autosomal recessive
KIAA0753 chr17 17p13.1 Short-rib thoracic dysplasia 21 without polydactyly, 619479 (3), Autosomal recessive
KIAA1109chr44q27Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive
KIAA1549chr77q34Retinitis pigmentosa 86, 618613 (3), Autosomal recessive
KIF14chr11q31Microcephaly 20, primary, autosomal recessive, 617914 (3), Autosomal recessive; ?Meckel syndrome 12, 616258 (3), Autosomal recessive
KIF1Achr22q37NESCAV syndrome, 614255 (3), Autosomal dominant; Spastic paraplegia 30, autosomal dominant, 610357 (3), Autosomal recessive, Autosomal dominant; Neuropathy, hereditary sensory, type IIC, 614213 (3), Autosomal recessive; Spastic paraplegia 30, autosomal recessive, 610357 (3), Autosomal recessive, Autosomal dominant
KIF1Cchr1717p13.2Spastic ataxia 2, autosomal recessive, 611302 (3), Autosomal recessive
KIF4AchrXXq13.1?Mental retardation, X-linked 100, 300923 (3), X-linked recessive
KIF7chr1515q26.1?Hydrolethalus syndrome 2, 614120 (3), Autosomal recessive; Acrocallosal syndrome, 200990 (3), Autosomal recessive; Joubert syndrome 12, 200990 (3), Autosomal recessive; ?Al-Gazali-Bakalinova syndrome, 607131 (3), Autosomal recessive
KISS1chr11q32?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3), Autosomal recessive
KISS1Rchr1919p13.3Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3), Autosomal recessive; ?Precocious puberty, central, 1, 176400 (3), Autosomal dominant
KIZchr2020p11.23Retinitis pigmentosa 69, 615780 (3), Autosomal recessive
KLchr1313q12?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3), Autosomal recessive
KLHDC8Bchr33p21.31{Hodgkin lymphoma, susceptibility to}, 236000 (3), Autosomal recessive
KLHL15chrXXp22.1Mental retardation, X-linked 103, 300982 (3), X-linked recessive
KLHL3chr55q31Pseudohypoaldosteronism, type IID, 614495 (3), Autosomal recessive, Autosomal dominant
KLHL40chr33p22.1Nemaline myopathy 8, autosomal recessive, 615348 (3), Autosomal recessive
KLHL41chr22q31.1Nemaline myopathy 9, 615731 (3), Autosomal recessive
KLHL7chr77p15.3Retinitis pigmentosa 42, 612943 (3), Autosomal dominant; PERCHING syndrome, 617055 (3), Autosomal recessive
KLK4chr1919q13.4Amelogenesis imperfecta, type IIA1, 204700 (3), Autosomal recessive
KLKB1chr44q35Fletcher factor (prekallikrein) deficiency, 612423 (3), Autosomal recessive
KNG1chr33q27[Kininogen deficiency], 228960 (3), Autosomal recessive; [High molecular weight kininogen deficiency], 228960 (3), Autosomal recessive
KNL1chr1515q15.1Microcephaly 4, primary, autosomal recessive, 604321 (3), Autosomal recessive
KPTNchr1919q13.4Mental retardation, autosomal recessive 41, 615637 (3), Autosomal recessive
KRT1chr1212q13Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant; Keratosis palmoplantaris striata III, 607654 (3); Palmoplantar keratoderma, epidermolytic, 144200 (3), Autosomal dominant; Palmoplantar keratoderma, nonepidermolytic, 600962 (3), Autosomal dominant; Ichthyosis histrix, Curth-Macklin type, 146590 (3), Autosomal dominant; Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant
KRT10chr1717q21-q22Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive, Autosomal dominant; Ichthyosis with confetti, 609165 (3), Autosomal dominant; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3), Autosomal dominant
KRT14chr1717q12-q21Naegeli- Franceschetti-Jadassohn syndrome, 161000 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Dermatopathia pigmentosa reticularis, 125595 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant
KRT18chr1212q13{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive; Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive
KRT5chr1212q13Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3), Autosomal dominant; Epidermolysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex-MP, 131960 (3), Autosomal dominant; Dowling-Degos disease 1, 179850 (3), Autosomal dominant; Epidermolysis bullosa simplex, Koebner type, 131900 (3), Autosomal dominant; Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3), Autosomal dominant; Epidermolysis bullosa simplex, recessive 1, 601001 (3), Autosomal recessive
KRT74chr1212q13?Ectodermal dysplasia 7, hair/nail type, 614929 (3), Autosomal recessive; Woolly hair, autosomal dominant, 194300 (3), Autosomal dominant; ?Hypotrichosis 3, 613981 (3), Autosomal dominant
KRT8chr1212q13{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3), Autosomal recessive; Cirrhosis, cryptogenic, 215600 (3), Autosomal recessive
KRT83chr1212q13Erythrokeratodermia variabilis et progressiva 5, 617756 (3), Autosomal recessive; Monilethrix, 158000 (3), Autosomal dominant
KRT85chr1212q13Ectodermal dysplasia 4, hair/nail type, 602032 (3), Autosomal recessive
KYNUchr22q22.2Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3), Autosomal recessive; ?Hydroxykynureninuria, 236800 (3), Autosomal recessive
L1CAMchrXXq28MASA syndrome, 303350 (3), X-linked recessive; Hydrocephalus with Hirschsprung disease, 307000 (3), X-linked recessive; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3), X-linked recessive; Corpus callosum, partial agenesis of, 304100 (3), X-linked recessive; CRASH syndrome, 303350 (3), X-linked recessive; Hydrocephalus due to aqueductal stenosis, 307000 (3), X-linked recessive
L2HGDHchr1414q22.1L-2-hydroxyglutaric aciduria, 236792 (3), Autosomal recessive
LAMA1chr1818p11.31Poretti-Boltshauser syndrome, 615960 (3), Autosomal recessive
LAMA2chr66q22-q23Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3), Autosomal recessive; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3), Autosomal recessive
LAMA3chr1818q11.2Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Laryngoonychocutaneous syndrome, 245660 (3), Autosomal recessive; Epidermolysis bullosa, generalized atrophic benign, 226650 (3), Autosomal recessive
LAMB1chr77q31.1-q31.3Lissencephaly 5, 615191 (3), Autosomal recessive
LAMB2chr33p21Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3); Pierson syndrome, 609049 (3), Autosomal recessive
LAMB3chr11q32Amelogenesis imperfecta, type IA, 104530 (3), Autosomal dominant; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive
LAMC2chr11q25-q31Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3), Autosomal recessive; Epidermolysis bullosa, junctional, Herlitz type, 226700 (3), Autosomal recessive
LAMC3chr99q33-q34Cortical malformations, occipital, 614115 (3), Autosomal recessive
LAMTOR2chr11q22Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3), Autosomal recessive
LARGE1chr2222q12.3-q13.1Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3), Autosomal recessive
LARP7chr44q25Alazami syndrome, 615071 (3), Autosomal recessive
LARS2chr33p21.3Perrault syndrome 4, 615300 (3), Autosomal recessive; ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3), Autosomal recessive
LAS1LchrXXq12Wilson-Turner syndrome, 309585 (3), X-linked recessive
LBRchr11q42.1Pelger-Huet anomaly, 169400 (3), Autosomal dominant; Greenberg skeletal dysplasia, 215140 (3), Autosomal recessive; ?Reynolds syndrome, 613471 (3), Autosomal dominant; Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3)
LCA5chr66q14.1Leber congenital amaurosis 5, 604537 (3), Autosomal recessive
LCATchr1616q22.1Norum disease, 245900 (3), Autosomal recessive; Fish-eye disease, 136120 (3), Autosomal recessive
LCKchr11p35-p34.3?Immunodeficiency 22, 615758 (3), Autosomal recessive
LCTchr22q21Lactase deficiency, congenital, 223000 (3), Autosomal recessive
LDHAchr1111p15.4Glycogen storage disease XI, 612933 (3), Autosomal recessive
LDLRAP1chr11p36-p35Hypercholesterolemia, familial, 4, 603813 (3), Autosomal recessive
LEPchr77q31.3Obesity, morbid, due to leptin deficiency, 614962 (3), Autosomal recessive
LEPRchr11p31Obesity, morbid, due to leptin receptor deficiency, 614963 (3), Autosomal recessive
LFNGchr77p22Spondylocostal dysostosis 3, autosomal recessive, 609813 (3), Autosomal recessive
LGI4chr1919q13.11Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, 617468 (3), Autosomal recessive
LHBchr1919q13.32Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3), Autosomal recessive
LHCGRchr22p21Leydig cell adenoma, somatic, with precocious puberty, 176410 (3); Precocious puberty, male, 176410 (3), Autosomal dominant; Luteinizing hormone resistance, female, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3), Autosomal recessive; Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3), Autosomal recessive
LHFPL5chr66p21.3Deafness, autosomal recessive 67, 610265 (3), Autosomal recessive
LHX3chr99q34.3Pituitary hormone deficiency, combined, 3, 221750 (3), Autosomal recessive
LIASchr44p14Hyperglycinemia, lactic acidosis, and seizures, 614462 (3), Autosomal recessive
LIFRchr55p13.1Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3), Autosomal recessive
LIG4chr1313q22-q34{Multiple myeloma, resistance to}, 254500 (3), Somatic mutation; LIG4 syndrome, 606593 (3), Autosomal recessive
LIM2chr1919q13.4Cataract 19, multiple types, 615277 (3), Autosomal recessive
LIMS2chr22q14.3?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3), Autosomal recessive
LINS1chr1515q26Mental retardation, autosomal recessive 27, 614340 (3), Autosomal recessive
LIPAchr1010q23.31Wolman disease, 278000 (3), Autosomal recessive; Cholesteryl ester storage disease, 278000 (3), Autosomal recessive
LIPCchr1515q21.3[High density lipoprotein cholesterol level QTL 12], 612797 (3); Hepatic lipase deficiency, 614025 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant
LIPEchr1919q13.1-q13.2Lipodystrophy, familial partial, type 6, 615980 (3), Autosomal recessive
LIPHchr33q27-q28Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3), Autosomal recessive; Hypotrichosis 7, 604379 (3), Autosomal recessive
LIPNchr1010q23.31Ichthyosis, congenital, autosomal recessive 8, 613943 (3), Autosomal recessive
LIPT1chr22q11.2Lipoyltransferase 1 deficiency, 616299 (3), Autosomal recessive
LMAN1chr1818q21.3-q22Combined factor V and VIII deficiency, 227300 (3), Autosomal recessive
LMAN2Lchr22q11.2?Mental retardation, autosomal recessive, 52, 616887 (3), Autosomal recessive
LMBR1chr77q36Triphalangeal thumb-polysyndactyly syndrome, 174500 (3), Autosomal dominant; Syndactyly, type IV, 186200 (3), Autosomal dominant; Triphalangeal thumb, type I, 174500 (3), Autosomal dominant; Acheiropody, 200500 (3), Autosomal recessive; Laurin-Sandrow syndrome, 135750 (3), Autosomal dominant; Hypoplastic or aplastic tibia with polydactyly, 188740 (3), Autosomal dominant; Polydactyly, preaxial type II, 174500 (3), Autosomal dominant
LMBRD1chr66q13Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3), Autosomal recessive
LMF1chr1616p13.3Lipase deficiency, combined, 246650 (3), Autosomal recessive
LMNAchr11q21.2Muscular dystrophy, congenital, 613205 (3), Autosomal dominant; Lipodystrophy, familial partial, type 2, 151660 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2B1, 605588 (3), Autosomal recessive; Cardiomyopathy, dilated, 1A, 115200 (3), Autosomal dominant; Heart-hand syndrome, Slovenian type, 610140 (3), Autosomal dominant; Hutchinson-Gilford progeria, 176670 (3), Autosomal recessive, Autosomal dominant; Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive; Mandibuloacral dysplasia, 248370 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3), Autosomal dominant; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3), Autosomal recessive; Malouf syndrome, 212112 (3), Autosomal dominant
LMNB2chr1919p13.3{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3), Autosomal dominant; ?Epilepsy, progressive myoclonic, 9, 616540 (3), Autosomal recessive
LMOD3chr33p14.1Nemaline myopathy 10, 616165 (3), Autosomal recessive
LONP1chr1919p13.2CODAS syndrome, 600373 (3), Autosomal recessive
LOXHD1chr1818q12-q21Deafness, autosomal recessive 77, 613079 (3), Autosomal recessive
LPAR6chr1313q14.12-q14.2Hypotrichosis 8, 278150 (3), Autosomal recessive; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3), Autosomal recessive
LPIN1chr22p21Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3), Autosomal recessive
LPIN2chr1818p11.31Majeed syndrome, 609628 (3)
LPLchr88p22Lipoprotein lipase deficiency, 238600 (3), Autosomal recessive; [High density lipoprotein cholesterol level QTL 11], 238600 (3), Autosomal recessive; Combined hyperlipidemia, familial, 144250 (3), Autosomal dominant
LRATchr44q31Retinal dystrophy, early-onset severe, 613341 (3), Autosomal recessive; Leber congenital amaurosis 14, 613341 (3), Autosomal recessive; Retinitis pigmentosa, juvenile, 613341 (3), Autosomal recessive
LRBAchr44q31.3Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3), Autosomal recessive
LRIG2chr11p13Urofacial syndrome 2, 615112 (3), Autosomal recessive
LRIT3chr44q25Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3), Autosomal recessive
LRMDAchr1010q22.3Albinism, oculocutaneous, type VII, 615179 (3), Autosomal recessive
LRP1chr1212q13.1-q13.3?Keratosis pilaris atrophicans, 604093 (3), Autosomal recessive
LRP2chr22q24-q31Donnai-Barrow syndrome, 222448 (3), Autosomal recessive
LRP4chr1111p12-p11.2?Myasthenic syndrome, congenital, 17, 616304 (3), Autosomal recessive; Sclerosteosis 2, 614305 (3), Autosomal recessive, Autosomal dominant; Cenani-Lenz syndactyly syndrome, 212780 (3), Autosomal recessive
LRP5chr1111q13.4van Buchem disease, type 2, 607636 (3), Autosomal dominant; Exudative vitreoretinopathy 4, 601813 (3), Autosomal recessive, Autosomal dominant; Hyperostosis, endosteal, 144750 (3), Autosomal dominant; Osteosclerosis, 144750 (3), Autosomal dominant; Polycystic liver disease 4 with or without kidney cysts, 617875 (3), Autosomal dominant; Osteoporosis-pseudoglioma syndrome, 259770 (3), Autosomal recessive; Osteopetrosis, autosomal dominant 1, 607634 (3), Autosomal dominant; {Osteoporosis}, 166710 (3), Autosomal dominant; [Bone mineral density variability 1], 601884 (3), Autosomal dominant
LRPAP1chr44p16.3Myopia 23, autosomal recessive, 615431 (3), Autosomal recessive
LRPPRCchr22p21Leigh syndrome, French-Canadian type, 220111 (3), Autosomal recessive
LRRC6chr88q24.22Ciliary dyskinesia, primary, 19, 614935 (3), Autosomal recessive
LRSAM1chr99q33.3-q34.11Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3), Autosomal recessive, Autosomal dominant
LRTOMTchr1111q13.3-q13.4Deafness, autosomal recessive 63, 611451 (3), Autosomal recessive
LTBP2chr1414q24Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3), Autosomal recessive; Glaucoma 3, primary congenital, D, 613086 (3); ?Weill-Marchesani syndrome 3, recessive, 614819 (3), Autosomal recessive
LTBP3chr1111q12Dental anomalies and short stature, 601216 (3), Autosomal recessive; Geleophysic dysplasia 3, 617809 (3), Autosomal dominant
LTBP4chr1919q13.1-q13.2Cutis laxa, autosomal recessive, type IC, 613177 (3), Autosomal recessive
LTC4Schr55q35Leukotriene C4 synthase deficiency, 614037 (1), Autosomal recessive
LYRM4chr66p25.1?Combined oxidative phosphorylation deficiency 19, 615595 (3), Autosomal recessive
LYRM7chr55q23.3Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
LYSTchr11q42.3Chediak-Higashi syndrome, 214500 (3), Autosomal recessive
LZTFL1chr33p21.3Bardet-Biedl syndrome 17, 615994 (3), Autosomal recessive
LZTR1chr2222q11.1-q11.2{Schwannomatosis-2, susceptibility to}, 615670 (3), Autosomal dominant; Noonan syndrome 2, 605275 (3), Autosomal recessive; Noonan syndrome 10, 616564 (3), Autosomal dominant
MAB21L2chr44q31.3Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3), Autosomal recessive, Autosomal dominant
MAGchr1919q13.1Spastic paraplegia 75, autosomal recessive, 616680 (3), Autosomal recessive
MAGI2chr77q21Nephrotic syndrome, type 15, 617609 (3), Autosomal recessive
MAGT1chrXXq13.1-q13.2Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3), X-linked recessive; Congenital disorder of glycosylation, type Icc, 301031 (3), X-linked recessive
MAKchr66p24.2Retinitis pigmentosa 62, 614181 (3), Autosomal recessive
MALT1chr1818q21Immunodeficiency 12, 615468 (3), Autosomal recessive
MAMLD1chrXXq28Hypospadias 2, X-linked, 300758 (3), X-linked recessive
MAN1B1chr99q34.3Mental retardation, autosomal recessive 15, 614202 (3), Autosomal recessive
MAN2B1chr1919cen-q12Mannosidosis, alpha-, types I and II, 248500 (3), Autosomal recessive
MANBAchr44q22-q25Mannosidosis, beta, 248510 (3), Autosomal recessive
MAOAchrXXp11.23Brunner syndrome, 300615 (3), X-linked recessive; {Antisocial behavior}, 300615 (3), X-linked recessive
MAPTchr1717q21.1Pick disease, 172700 (3), Autosomal dominant; Dementia, frontotemporal, with or without parkinsonism, 600274 (3), Autosomal dominant; {Parkinson disease, susceptibility to}, 168600 (3), Multifactorial, Autosomal dominant; Supranuclear palsy, progressive, 601104 (3), Autosomal dominant; Supranuclear palsy, progressive atypical, 260540 (3), Autosomal recessive
MARS2chr22q33.1Spastic ataxia 3, autosomal recessive, 611390 (3), Autosomal recessive; ?Combined oxidative phosphorylation deficiency 25, 616430 (3), Autosomal recessive
MARVELD2chr55q13.1Deafness, autosomal recessive 49, 610153 (3), Autosomal recessive
MASP1chr33q27-q283MC syndrome 1, 257920 (3), Autosomal recessive
MASP2chr11p36.3-p36.2MASP2 deficiency, 613791 (3), Autosomal recessive
MAT1Achr1010q22Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3), Autosomal recessive, Autosomal dominant; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3), Autosomal recessive, Autosomal dominant
MATN3chr22p24-p23{Osteoarthritis susceptibility 2}, 140600 (3), Autosomal dominant; ?Spondyloepimetaphyseal dysplasia, 608728 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 5, 607078 (3), Autosomal dominant
MBOAT7chr1919q13.4Mental retardation, autosomal recessive 57, 617188 (3), Autosomal recessive
MBTPS2chrXXp22.12-p22.11IFAP syndrome with or without BRESHECK syndrome, 308205 (3), X-linked recessive; Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3), X-linked recessive; Osteogenesis imperfecta, type XIX, 301014 (3), X-linked recessive; ?Olmsted syndrome, X-linked, 300918 (3), X-linked recessive
MC1Rchr1616q24.3[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3), Autosomal recessive; {Albinism, oculocutaneous, type II, modifier of}, 203200 (3), Autosomal recessive; {Melanoma, cutaneous malignant, 5}, 613099 (3); [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {UV-induced skin damage}, 266300 (3), Autosomal recessive; [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3), Autosomal recessive
MC2Rchr1818p11.2Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3), Autosomal recessive
MC4Rchr1818q22Obesity (BMIQ20), 618406 (3), Autosomal recessive, Autosomal dominant; {Obesity, resistance to (BMIQ20)}, 618306 (3)
MCCC1chr33q25-q273-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3), Autosomal recessive
MCCC2chr55q12-q133-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3), Autosomal recessive
MCEEchr22p13.3Methylmalonyl-CoA epimerase deficiency, 251120 (3), Autosomal recessive
MCM3APchr2121q22.3Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3), Autosomal recessive
MCM4chr88q11.2Immunodeficiency 54, 609981 (3), Autosomal recessive
MCM5chr2222q13.1?Meier-Gorlin syndrome 8, 617564 (3), Autosomal recessive
MCM8chr2020p13-p12.3?Premature ovarian failure 10, 612885 (3), Autosomal recessive
MCM9chr66q22.1-q22.33Ovarian dysgenesis 4, 616185 (3), Autosomal recessive
MCOLN1chr1919p13.3-p13.2Mucolipidosis IV, 252650 (3), Autosomal recessive
MCPH1chr88p23Microcephaly 1, primary, autosomal recessive, 251200 (3), Autosomal recessive
MDH2chr77q11.23Epileptic encephalopathy, early infantile, 51, 617339 (3), Autosomal recessive
MDM2chr1212q14.3-q15{Accelerated tumor formation, susceptibility to}, 614401 (3), Autosomal dominant; ?Lessel-Kubisch syndrome, 618681 (3), Autosomal recessive
MECP2chrXXq28Mental retardation, X-linked syndromic, Lubs type, 300260 (3), X-linked recessive; Encephalopathy, neonatal severe, 300673 (3), X-linked recessive; Mental retardation, X-linked, syndromic 13, 300055 (3), X-linked recessive; Rett syndrome, atypical, 312750 (3), X-linked dominant; {Autism susceptibility, X-linked 3}, 300496 (3), X-linked; Rett syndrome, 312750 (3), X-linked dominant; Rett syndrome, preserved speech variant, 312750 (3), X-linked dominant
MED12chrXXq13Ohdo syndrome, X-linked, 300895 (3), X-linked recessive; Lujan-Fryns syndrome, 309520 (3), X-linked recessive; Opitz-Kaveggia syndrome, 305450 (3), X-linked recessive
MED17chr1111q21Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3), Autosomal recessive
MED23chr66q23.2Mental retardation, autosomal recessive 18, 614249 (3), Autosomal recessive
MED25chr1919q13.3Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3), Autosomal recessive
MEFVchr1616p13Neutrophilic dermatosis, acute febrile, 608068 (3), Autosomal dominant; Familial Mediterranean fever, AR, 249100 (3), Autosomal recessive; Familial Mediterranean fever, AD, 134610 (3), Autosomal dominant
MEGF10chr55q23.2Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3), Autosomal recessive; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3), Autosomal recessive
MEGF8chr1919q12Carpenter syndrome 2, 614976 (3), Autosomal recessive
MEOX1chr1717q21Klippel-Feil syndrome 2, 214300 (3), Autosomal recessive
MERTKchr22q14.1Retinitis pigmentosa 38, 613862 (3), Autosomal recessive
MESDchr1515q25.1Osteogenesis imperfecta, type XX, 618644 (3), Autosomal recessive
MESP2chr1515q26.1Spondylocostal dysostosis 2, autosomal recessive, 608681 (3), Autosomal recessive
METchr77q31{Osteofibrous dysplasia, susceptibility to}, 607278 (3), Autosomal dominant; Hepatocellular carcinoma, childhood type, somatic, 114550 (3); ?Deafness, autosomal recessive 97, 616705 (3), Autosomal recessive; Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
METTL23chr1717q25.1Mental retardation, autosomal recessive 44, 615942 (3), Autosomal recessive
MFFchr22q36.3Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3), Autosomal recessive
MFN2chr11p36.2Hereditary motor and sensory neuropathy VIA, 601152 (3), Autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3), Autosomal dominant
MFRPchr1111q23Nanophthalmos 2, 609549 (3); Microphthalmia, isolated 5, 611040 (3), Autosomal recessive
MFSD2Achr11p34.2Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 (3), Autosomal recessive
MFSD8chr44q28.1-q28.2Macular dystrophy with central cone involvement, 616170 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 7, 610951 (3), Autosomal recessive
MGAT2chr1414q21Congenital disorder of glycosylation, type IIa, 212066 (3), Autosomal recessive
MGME1chr2020p11.23Mitochondrial DNA depletion syndrome 11, 615084 (3), Autosomal recessive
MGPchr1212p13.1-p12.3Keutel syndrome, 245150 (3), Autosomal recessive
MICU1chr1010q22.1Myopathy with extrapyramidal signs, 615673 (3), Autosomal recessive
MID1chrXXp22Opitz GBBB syndrome, type I, 300000 (3), X-linked recessive
MID2chrXXq22?Mental retardation, X-linked 101, 300928 (3), X-linked recessive
MIR2861chr99q34.11[Bone mineral density QTL 15], 613418 (3), Autosomal recessive, Autosomal dominant
MITFchr33p14.1-p12.3COMMAD syndrome, 617306 (3), Autosomal recessive; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3); Waardenburg syndrome, type 2A, 193510 (3), Autosomal dominant; Waardenburg syndrome/ocular albinism, digenic, 103470 (3); Tietz albinism-deafness syndrome, 103500 (3), Autosomal dominant
MKKSchr2020p12Bardet-Biedl syndrome 6, 605231 (3), Autosomal recessive; McKusick-Kaufman syndrome, 236700 (3), Autosomal recessive
MKS1chr1717q23Bardet-Biedl syndrome 13, 615990 (3), Autosomal recessive; Joubert syndrome 28, 617121 (3), Autosomal recessive; Meckel syndrome 1, 249000 (3), Autosomal recessive
MLC1chr2222q13.33Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3), Autosomal recessive
MLH1chr33p21.3Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3); Muir-Torre syndrome, 158320 (3), Autosomal dominant
MLPHchr22q37Griscelli syndrome, type 3, 609227 (3), Autosomal recessive
MLYCDchr1616q24Malonyl-CoA decarboxylase deficiency, 248360 (3), Autosomal recessive
MMAAchr44q31.1-q31.2Methylmalonic aciduria, vitamin B12-responsive, 251100 (3), Autosomal recessive
MMABchr1212q24Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3), Autosomal recessive
MMACHCchr11p34.1Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3), Autosomal recessive
MMADHCchr22q23.2Homocystinuria, cblD type, variant 1, 277410 (3), Autosomal recessive; Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3), Autosomal recessive; Methylmalonic aciduria, cblD type, variant 2, 277410 (3), Autosomal recessive
MMEchr33q21-q27Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3), Autosomal recessive, Autosomal dominant; ?Spinocerebellar ataxia 43, 617018 (3), Autosomal dominant
MMP1chr1111q22-q23COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3), Autosomal recessive
MMP13chr1111q22.3Metaphyseal dysplasia, Spahr type, 250400 (3), Autosomal recessive; Metaphyseal anadysplasia 1, 602111 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3), Autosomal dominant
MMP2chr1616q13Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3), Autosomal recessive
MMP20chr1111q22.3-q23Amelogenesis imperfecta, type IIA2, 612529 (3), Autosomal recessive
MMUTchr66p21Methylmalonic aciduria, mut(0) type, 251000 (3), Autosomal recessive
MOCOSchr1818q12.2Xanthinuria, type II, 603592 (3), Autosomal recessive
MOCS1chr66p21.3Molybdenum cofactor deficiency A, 252150 (3), Autosomal recessive
MOCS2chr55q11Molybdenum cofactor deficiency B, 252160 (3), Autosomal recessive
MOGSchr22p13.1Congenital disorder of glycosylation, type IIb, 606056 (3), Autosomal recessive
MPC1chr66q27Mitochondrial pyruvate carrier deficiency, 614741 (3), Autosomal recessive
MPDU1chr1717p13.1-p12Congenital disorder of glycosylation, type If, 609180 (3), Autosomal recessive
MPDZchr99p23Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3), Autosomal recessive
MPIchr1515q22-qterCongenital disorder of glycosylation, type Ib, 602579 (3), Autosomal recessive
MPLchr11p34Myelofibrosis with myeloid metaplasia, somatic, 254450 (3); Thrombocytopenia, congenital amegakaryocytic, 604498 (3), Autosomal recessive; Thrombocythemia 2, 601977 (3), Somatic mutation, Autosomal dominant
MPLKIPchr77p14Trichothiodystrophy 4, nonphotosensitive, 234050 (3), Autosomal recessive
MPOchr1717q23.1{Lung cancer, protection against, in smokers} (3); Myeloperoxidase deficiency, 254600 (3), Autosomal recessive; {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal dominant
MPV17chr22p23-p21Charcot-Marie-Tooth disease, axonal, type 2EE, 618400 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3), Autosomal recessive
MPZchr11q22Charcot-Marie-Tooth disease, type 2J, 607736 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1B, 118200 (3), Autosomal dominant; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; Hypomyelinating neuropathy, congenital, 2, 618184 (3), Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2I, 607677 (3), Autosomal dominant
MRAPchr2121q22.1Glucocorticoid deficiency 2, 607398 (3), Autosomal recessive
MRPL12chr1717q25-qter?Combined oxidative phosphorylation deficiency 45, 618951 (3), Autosomal recessive
MRPL3chr33q22.1Combined oxidative phosphorylation deficiency 9, 614582 (3), Autosomal recessive
MRPL44chr22q36?Combined oxidative phosphorylation deficiency 16, 615395 (3), Autosomal recessive
MRPS16chr1010q22.1Combined oxidative phosphorylation deficiency 2, 610498 (3), Autosomal recessive
MRPS2chr99q34Combined oxidative phosphorylation deficiency 36, 617950 (3), Autosomal recessive
MRPS22chr33q23Combined oxidative phosphorylation deficiency 5, 611719 (3), Autosomal recessive; Ovarian dysgenesis 7, 618117 (3), Autosomal recessive
MS4A1chr1111q13Immunodeficiency, common variable, 5, 613495 (3), Autosomal recessive
MSH2chr22p22-p21Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Muir-Torre syndrome, 158320 (3), Autosomal dominant; Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3), Autosomal dominant
MSH3chr55q11-q12Familial adenomatous polyposis 4, 617100 (3), Autosomal recessive; Endometrial carcinoma, somatic, 608089 (3)
MSH5chr66p21.33?Premature ovarian failure 13, 617442 (3), Autosomal recessive
MSH6chr22p16Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; {Endometrial cancer, familial}, 608089 (3), Somatic mutation, Autosomal dominant; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3), Autosomal dominant
MSMO1chr44q32-q34Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3), Autosomal recessive
MSRB3chr1212q14.3Deafness, autosomal recessive 74, 613718 (3), Autosomal recessive
MT3chr1616q13
MTFMTchr1515q22.31Combined oxidative phosphorylation deficiency 15, 614947 (3), Autosomal recessive; Mitochondrial complex I deficiency, nuclear type 27, 618248 (3), Autosomal recessive
MTHFD1chr1414q24Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive; {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive
MTHFRchr11p36.3{Vascular disease, susceptibility to} (3); {Schizophrenia, susceptibility to}, 181500 (3), Autosomal dominant; Homocystinuria due to MTHFR deficiency, 236250 (3), Autosomal recessive; {Neural tube defects, susceptibility to}, 601634 (3), Autosomal recessive; {Thromboembolism, susceptibility to}, 188050 (3), Autosomal dominant
MTHFSchr1515q25.1Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 (3), Autosomal recessive
MTM1chrXXq28Myotubular myopathy, X-linked, 310400 (3), X-linked recessive
MTMR2chr1111q22Charcot-Marie-Tooth disease, type 4B1, 601382 (3), Autosomal recessive
MTO1chr66q13Combined oxidative phosphorylation deficiency 10, 614702 (3), Autosomal recessive
MTPAPchr1010p11.23?Spastic ataxia 4, autosomal recessive, 613672 (3), Autosomal recessive
MTRchr11q43{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive; Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3), Autosomal recessive
MTRRchr55p15.3-p15.2{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3), Autosomal recessive; Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3), Autosomal recessive
MTTPchr44q22-q24Abetalipoproteinemia, 200100 (3), Autosomal recessive; {Metabolic syndrome, protection against}, 605552 (3), Autosomal dominant
MUSKchr99q31.3-q32Fetal akinesia deformation sequence 1, 208150 (3), Autosomal recessive; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3), Autosomal recessive
MUTYHchr11p34.3-p32.1Gastric cancer, somatic, 613659 (3); Adenomas, multiple colorectal, 608456 (3), Autosomal recessive
MVKchr1212q24Hyper-IgD syndrome, 260920 (3), Autosomal recessive; Porokeratosis 3, multiple types, 175900 (3), Autosomal dominant; Mevalonic aciduria, 610377 (3), Autosomal recessive
MYBPC1chr1212q23.2Arthrogryposis, distal, type 1B, 614335 (3), Autosomal dominant; Myopathy, congenital, with tremor, 618524 (3), Autosomal dominant; Lethal congenital contracture syndrome 4, 614915 (3), Autosomal recessive
MYBPC3chr1111p11.2Cardiomyopathy, hypertrophic, 4, 115197 (3), Autosomal recessive, Autosomal dominant; Cardiomyopathy, dilated, 1MM, 615396 (3), Autosomal dominant; Left ventricular noncompaction 10, 615396 (3), Autosomal dominant
MYD88chr33p22-p21.3Immunodeficiency 68, 612260 (3), Autosomal recessive; Macroglobulinemia, Waldenstrom, somatic, 153600 (3)
MYF5chr1212q21Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3), Autosomal recessive
MYH2chr1717p13.1Proximal myopathy and ophthalmoplegia, 605637 (3), Autosomal recessive, Autosomal dominant
MYH3chr1717p13.1Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, 618469 (3), Autosomal recessive; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 (3), Autosomal dominant; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 (3), Autosomal dominant; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, 178110 (3), Autosomal dominant
MYH7chr1414q12Myopathy, myosin storage, autosomal recessive, 255160 (3), Autosomal recessive; Left ventricular noncompaction 5, 613426 (3), Autosomal dominant; Laing distal myopathy, 160500 (3), Autosomal dominant; Myopathy, myosin storage, autosomal dominant, 608358 (3), Autosomal dominant; Cardiomyopathy, dilated, 1S, 613426 (3), Autosomal dominant; Scapuloperoneal syndrome, myopathic type, 181430 (3), Autosomal dominant; Cardiomyopathy, hypertrophic, 1, 192600 (3), Digenic dominant, Autosomal dominant
MYL1chr22q32.1-qterMyopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 (3), Autosomal recessive
MYL3chr33pCardiomyopathy, hypertrophic, 8, 608751 (3), Autosomal recessive, Autosomal dominant
MYLKchr33q21Aortic aneurysm, familial thoracic 7, 613780 (3), Autosomal dominant; Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210 (3), Autosomal recessive
MYO15Achr1717p11.2Deafness, autosomal recessive 3, 600316 (3), Autosomal recessive
MYO18Bchr2222q12.1Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3), Autosomal recessive
MYO1Echr1515q21-q22Glomerulosclerosis, focal segmental, 6, 614131 (3), Autosomal recessive
MYO3Achr1010p11.1Deafness, autosomal recessive 30, 607101 (3), Autosomal recessive
MYO5Achr1515q21Griscelli syndrome, type 1, 214450 (3), Autosomal recessive
MYO5Bchr1818q21Microvillus inclusion disease, 251850 (3), Autosomal recessive
MYO6chr66q13Deafness, autosomal recessive 37, 607821 (3), Autosomal recessive; Deafness, autosomal dominant 22, 606346 (3), Autosomal dominant; Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3), Autosomal dominant
MYO7Achr1111q13.5Deafness, autosomal recessive 2, 600060 (3), Autosomal recessive; Deafness, autosomal dominant 11, 601317 (3), Autosomal dominant; Usher syndrome, type 1B, 276900 (3), Autosomal recessive
MYPNchr1010q21.1Cardiomyopathy, dilated, 1KK, 615248 (3), Autosomal dominant; Cardiomyopathy, familial restrictive, 4, 615248 (3), Autosomal dominant; Nemaline myopathy 11, autosomal recessive, 617336 (3), Autosomal recessive; Cardiomyopathy, hypertrophic, 22, 615248 (3), Autosomal dominant
NAA10chrXXq28Ogden syndrome, 300855 (3), X-linked dominant, X-linked recessive; Microphthalmia, syndromic 1, 309800 (3), X-linked
NADK2chr55p13.22,4-dienoyl-CoA reductase deficiency, 616034 (3), Autosomal recessive
NAGAchr2222q11Kanzaki disease, 609242 (3), Autosomal recessive; Schindler disease, type I, 609241 (3), Autosomal recessive; Schindler disease, type III, 609241 (3), Autosomal recessive
NAGLUchr1717q21Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3), Autosomal dominant
NAGSchr1717q21.31N-acetylglutamate synthase deficiency, 237310 (3), Autosomal recessive
NALCNchr1313q33.11Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3), Autosomal recessive; Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3), Autosomal dominant
NARS2chr1111q14.1?Deafness, autosomal recessive 94, 618434 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 24, 616239 (3), Autosomal recessive
NAT2chr88p23.1-p21.3[Acetylation, slow], 243400 (3), Autosomal recessive
NAT8Lchr44p16.3?N-acetylaspartate deficiency, 614063 (3), Autosomal recessive
NBASchr22p24-p23Infantile liver failure syndrome 2, 616483 (3), Autosomal recessive; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3), Autosomal recessive
NBEAL2chr33p22.1-p21.1Gray platelet syndrome, 139090 (3), Autosomal recessive
NBNchr88q21Leukemia, acute lymphoblastic, 613065 (3); Nijmegen breakage syndrome, 251260 (3), Autosomal recessive; Aplastic anemia, 609135 (3)
NCAPD2chr1212p13.31?Microcephaly 21, primary, autosomal recessive, 617983 (3), Autosomal recessive
NCAPG2chr77q36.3Khan-Khan-Katsanis syndrome, 618460 (3), Autosomal recessive
NCF1chr77q11.23Chronic granulomatous disease 1, autosomal recessive, 233700 (3), Autosomal recessive
NCF2chr11q25Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3), Autosomal recessive
NCF4chr2222q13.1Chronic granulomatous disease 3, autosomal recessive, 613960 (3), Autosomal recessive
NDE1chr1616p13.1Lissencephaly 4 (with microcephaly), 614019 (3), Autosomal recessive; ?Microhydranencephaly, 605013 (3), Autosomal recessive
NDPchrXXp11.4Exudative vitreoretinopathy 2, X-linked, 305390 (3), X-linked dominant, X-linked recessive; Norrie disease, 310600 (3), X-linked recessive
NDRG1chr88q24.3Charcot-Marie-Tooth disease, type 4D, 601455 (3), Autosomal recessive
NDST1chr55q32-q33.3Mental retardation, autosomal recessive 46, 616116 (3), Autosomal recessive
NDUFA1chrXXq24Mitochondrial complex I deficiency, nuclear type 12, 301020 (3), X-linked recessive
NDUFA10chr22q37.3Mitochondrial complex I deficiency, nuclear type 22, 618243 (3), Autosomal recessive
NDUFA11chr1919p13.3Mitochondrial complex I deficiency, nuclear type 14, 618236 (3), Autosomal recessive
NDUFA12chr1212q22?Mitochondrial complex I deficiency, nuclear type 23, 618244 (3), Autosomal recessive
NDUFA13chr1919p13.2-p13.1? Mitochondrial complex I deficiency, nuclear type 28, 618249 (3), Autosomal recessive; {Thyroid carcinoma, Hurthle cell}, 607464 (3)
NDUFA2chr55q31.2?Mitochondrial complex I deficiency, nuclear type 13, 618235 (3), Autosomal recessive
NDUFA6chr2222q13.1Mitochondrial complex I deficiency, nuclear type 33, 618253 (3), Autosomal recessive
NDUFA7chr1919p13.2
NDUFA9chr1212pMitochondrial complex I deficiency, nuclear type 26, 618247 (3), Autosomal recessive
NDUFAF1chr1515q13.3Mitochondrial complex I deficiency, nuclear type 11, 618234 (3), Autosomal recessive
NDUFAF2chr55q12.1Mitochondrial complex I deficiency, nuclear type 10, 618233 (3), Autosomal recessive
NDUFAF3chr33p21.31Mitochondrial complex I deficiency, nuclear type 18, 618240 (3), Autosomal recessive
NDUFAF4chr66q16.1Mitochondrial complex I deficiency, nuclear type 15, 618237 (3), Autosomal recessive
NDUFAF5chr2020p12.1Mitochondrial complex I deficiency, nuclear type 16, 618238 (3), Autosomal recessive
NDUFAF6chr88q22.1Fanconi renotubular syndrome 5, 618913 (3), Autosomal recessive; Mitochondrial complex I deficiency, nuclear type 17, 618239 (3), Autosomal recessive
NDUFB3chr22q31.3Mitochondrial complex I deficiency, nuclear type 25, 618246 (3), Autosomal recessive
NDUFB8chr1010q23.2-q23.33Mitochondrial complex I deficiency, nuclear type 32, 618252 (3), Autosomal recessive
NDUFB9chr88q13.3?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3), Autosomal recessive
NDUFS1chr22q33-q34Mitochondrial complex I deficiency, nuclear type 5, 618226 (3), Autosomal recessive
NDUFS2chr11q23Mitochondrial complex I deficiency, nuclear type 6, 618228 (3), Autosomal recessive
NDUFS3chr1111p11.11Mitochondrial complex I deficiency, nuclear type 8, 618230 (3), Autosomal recessive
NDUFS4chr55q11.1Mitochondrial complex I deficiency, nuclear type 1, 252010 (3), Autosomal recessive
NDUFS5chr11p34.2-p33
NDUFS6chr55pter-p15.33Mitochondrial complex I deficiency, nuclear type 9, 618232 (3), Autosomal recessive
NDUFS7chr1919p13Mitochondrial complex I deficiency, nuclear type 3, 618224 (3), Autosomal recessive
NDUFS8chr1111q13Mitochondrial complex I deficiency, nuclear type 2, 618222 (3), Autosomal recessive
NDUFV1chr1111q13Mitochondrial complex I deficiency, nuclear type 4, 618225 (3), Autosomal recessive
NDUFV2chr1818p11.31-p11.2Mitochondrial complex I deficiency, nuclear type 7, 618229 (3), Autosomal recessive
NEBchr22q22Nemaline myopathy 2, autosomal recessive, 256030 (3), Autosomal recessive
NECAP1chr1212p13.31Epileptic encephalopathy, early infantile, 21, 615833 (3), Autosomal recessive
NECTIN1chr1111q23-q24Orofacial cleft 7, 225060 (3), Autosomal recessive; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3), Autosomal recessive
NECTIN4chr11q23.3Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3), Autosomal recessive
NEFHchr2222q12.2Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3), Autosomal dominant; ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant
NEFLchr88p21Charcot-Marie-Tooth disease, type 1F, 607734 (3), Autosomal recessive, Autosomal dominant; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 2E, 607684 (3), Autosomal dominant
NEK1chr44q33{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3), Autosomal dominant; Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3), Digenic recessive, Autosomal recessive
NEK2chr11q32.2-q41?Retinitis pigmentosa 67, 615565 (3), Autosomal recessive
NEK8chr1717q11.1?Nephronophthisis 9, 613824 (3); Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
NEU1chr66p21.3Sialidosis, type II, 256550 (3), Autosomal recessive; Sialidosis, type I, 256550 (3), Autosomal recessive
NEUROG3chr1010q21.3Diarrhea 4, malabsorptive, congenital, 610370 (3), Autosomal recessive
NFU1chr22p15-p13Multiple mitochondrial dysfunctions syndrome 1, 605711 (3), Autosomal recessive
NGFchr11p13.1Neuropathy, hereditary sensory and autonomic, type V, 608654 (3), Autosomal recessive
NGLY1chr33p24Congenital disorder of deglycosylation, 615273 (3), Autosomal recessive
NHEJ1chr22q35Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
NHLRC1chr66p22.3Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3), Autosomal recessive
NHP2chr55q35.3Dyskeratosis congenita, autosomal recessive 2, 613987 (3), Autosomal recessive
NHSchrXXp22.13Nance-Horan syndrome, 302350 (3), X-linked dominant; Cataract 40, X-linked, 302200 (3), X-linked
NINchr1414q22.1?Seckel syndrome 7, 614851 (3), Autosomal recessive
NIPAL4chr55q33Ichthyosis, congenital, autosomal recessive 6, 612281 (3), Autosomal recessive
NKX2-6chr88p21.2Persistent truncus arteriosus, 217095 (3); Conotruncal heart malformations, 217095 (3)
NKX3-2chr44p16.1Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
NLGN4XchrXXp22.33Mental retardation, X-linked, 300495 (3), Isolated cases, Multifactorial, X-linked; {Asperger syndrome susceptibility, X-linked 2}, 300497 (3), X-linked; {Autism susceptibility, X-linked 2}, 300495 (3), Isolated cases, Multifactorial, X-linked
NLRP1chr1717p13Palmoplantar carcinoma, multiple self-healing, 615225 (3), Autosomal dominant; Autoinflammation with arthritis and dyskeratosis, 617388 (3), Autosomal recessive, Autosomal dominant; {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3); ?Respiratory papillomatosis, juvenile recurrent, congenital, 618803 (3), Autosomal recessive
NLRP7chr1919q13.4Hydatidiform mole, recurrent, 1, 231090 (3), Autosomal recessive
NME8chr77p14.1Ciliary dyskinesia, primary, 6, 610852 (3), Autosomal recessive
NMNAT1chr11p36.22Leber congenital amaurosis 9, 608553 (3), Autosomal recessive
NNTchr55p12Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3), Autosomal recessive
NOP10chr1515q14-q15Dyskeratosis congenita, autosomal recessive 1, 224230 (3), Autosomal recessive
NPC1chr1818q11-q12Niemann-Pick disease, type D, 257220 (3), Autosomal recessive; Niemann-Pick disease, type C1, 257220 (3), Autosomal recessive
NPC2chr1414q24.3Niemann-pick disease, type C2, 607625 (3), Autosomal recessive
NPHP1chr22q13Nephronophthisis 1, juvenile, 256100 (3), Autosomal recessive; Senior-Loken syndrome-1, 266900 (3), Autosomal recessive; Joubert syndrome 4, 609583 (3), Autosomal recessive
NPHP3chr33q22Meckel syndrome 7, 267010 (3), Autosomal recessive; Renal-hepatic-pancreatic dysplasia 1, 208540 (3), Autosomal recessive; Nephronophthisis 3, 604387 (3), Autosomal recessive
NPHP4chr11p36Nephronophthisis 4, 606966 (3), Autosomal recessive; Senior-Loken syndrome 4, 606996 (3), Autosomal recessive
NPHS1chr1919q13.1Nephrotic syndrome, type 1, 256300 (3), Autosomal recessive
NPHS2chr11q25-q31Nephrotic syndrome, type 2, 600995 (3), Autosomal recessive
NPPAchr11p36.2Atrial standstill 2, 615745 (3), Autosomal recessive; Atrial fibrillation, familial, 6, 612201 (3), Autosomal dominant
NPR2chr99p21-p12Short stature with nonspecific skeletal abnormalities, 616255 (3), Autosomal dominant; Epiphyseal chondrodysplasia, Miura type, 615923 (3), Autosomal dominant; Acromesomelic dysplasia, Maroteaux type, 602875 (3), Autosomal recessive
NR0B1chrXXp21.3-p21.2Adrenal hypoplasia, congenital, 300200 (3), X-linked recessive; 46XY sex reversal 2, dosage-sensitive, 300018 (3), X-linked
NR0B2chr11p36.1Obesity, mild, early-onset, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant
NR1H4chr1212q23.1Cholestasis, progressive familial intrahepatic, 5, 617049 (3), Autosomal recessive
NR2E3chr1515q23Enhanced S-cone syndrome, 268100 (3), Autosomal recessive; Retinitis pigmentosa 37, 611131 (3), Autosomal recessive, Autosomal dominant
NR5A1chr99q33Adrenocortical insufficiency, 612964 (3), Autosomal dominant; 46, XX sex reversal 4, 617480 (3), Autosomal dominant; Premature ovarian failure 7, 612964 (3), Autosomal dominant; Spermatogenic failure 8, 613957 (3), Autosomal dominant; 46XY sex reversal 3, 612965 (3), Autosomal dominant
NRLchr1414q11.1-q11.2Retinitis pigmentosa 27, 613750 (3), Autosomal dominant; Retinal degeneration, autosomal recessive, clumped pigment type (3)
NRXN1chr22p16.3Pitt-Hopkins-like syndrome 2, 614325 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 17}, 614332 (3)
NSD1chr55q35Sotos syndrome 1, 117550 (3), Autosomal dominant
NSDHLchrXXq28CHILD syndrome, 308050 (3), X-linked dominant; CK syndrome, 300831 (3), X-linked recessive
NSMCE3chr1515q13.1Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3), Autosomal recessive
NSUN2chr55p15.31Mental retardation, autosomal recessive 5, 611091 (3), Autosomal recessive
NT5C2chr1010q24.3Spastic paraplegia 45, autosomal recessive, 613162 (3), Autosomal recessive
NT5C3Achr77p15-p14Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3), Autosomal recessive
NT5Echr66q14-q21Calcification of joints and arteries, 211800 (3), Autosomal recessive
NTHL1chr1616p13.3-p13.2Familial adenomatous polyposis 3, 616415 (3), Autosomal recessive
NTRK1chr11q21-q22Insensitivity to pain, congenital, with anhidrosis, 256800 (3), Autosomal recessive
NUBPLchr1414q12Mitochondrial complex I deficiency, nuclear type 21, 618242 (3), Autosomal recessive
NUP107chr1212q15Galloway-Mowat syndrome 7, 618348 (3), Autosomal recessive; ?Ovarian dysgenesis 6, 618078 (3), Autosomal recessive; Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive
NUP155chr55p13?Atrial fibrillation 15, 615770 (3), Autosomal recessive
NUP214chr99q34.1Leukemia, acute myeloid, somatic, 601626 (3); {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426 (3), Autosomal recessive; Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
NUP62chr1919q13.33Striatonigral degeneration, infantile, 271930 (3), Autosomal recessive
NXF5chrXXq22.10
NXNchr1717p13.3Robinow syndrome, autosomal recessive 2, 618529 (3), Autosomal recessive
NYXchrXXp11.4Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3), X-linked recessive
OATchr1010q26Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3), Autosomal recessive
OBSL1chr22q353-M syndrome 2, 612921 (3), Autosomal recessive
OCA2chr1515q11.2-q12[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3), Autosomal recessive; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3), Autosomal recessive; Albinism, oculocutaneous, type II, 203200 (3), Autosomal recessive; Albinism, brown oculocutaneous, 203200 (3), Autosomal recessive
OCLNchr55q13.1Pseudo-TORCH syndrome 1, 251290 (3), Autosomal recessive
OCRLchrXXq26.1Lowe syndrome, 309000 (3), X-linked recessive; Dent disease 2, 300555 (3), X-linked recessive
ODAPHchr44q21.1Amelogenesis imperfecta, type IIA4, 614832 (3), Autosomal recessive
OFD1chrXXp22.3-p22.2Orofaciodigital syndrome I, 311200 (3), X-linked dominant; ?Retinitis pigmentosa 23, 300424 (3), X-linked recessive; Joubert syndrome 10, 300804 (3), X-linked recessive; Simpson-Golabi-Behmel syndrome, type 2, 300209 (3), X-linked recessive
OGDHchr77p14-p13Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1), Autosomal recessive
OGTchrXXq13Mental retardation, X-linked 106, 300997 (3), X-linked recessive
OPA1chr33q28-q29{Glaucoma, normal tension, susceptibility to}, 606657 (3); Behr syndrome, 210000 (3), Autosomal recessive; Optic atrophy 1, 165500 (3), Autosomal dominant; Optic atrophy plus syndrome, 125250 (3), Autosomal dominant; ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3), Autosomal recessive
OPA3chr1919q13.2-q13.33- methylglutaconic aciduria, type III, 258501 (3), Autosomal recessive; Optic atrophy 3 with cataract, 165300 (3), Autosomal dominant
OPHN1chrXXq12Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3), X-linked recessive
OPLAHchr88q24.35-oxoprolinase deficiency, 260005 (3), Autosomal recessive, Autosomal dominant
OPN1LWchrXXq28Blue cone monochromacy, 303700 (3), X-linked recessive; Colorblindness, protan, 303900 (3), X-linked
OPN1MWchrXXq28Colorblindness, deutan, 303800 (3), X-linked; Blue cone monochromacy, 303700 (3), X-linked recessive
ORAI1chr1212q24Myopathy, tubular aggregate, 2, 615883 (3), Autosomal dominant; Immunodeficiency 9, 612782 (3), Autosomal recessive
ORC1chr11p32Meier-Gorlin syndrome 1, 224690 (3), Autosomal recessive
ORC4chr22q22-q23Meier-Gorlin syndrome 2, 613800 (3), Autosomal recessive
ORC6chr1616q12Meier-Gorlin syndrome 3, 613803 (3), Autosomal recessive
OSTM1chr66q21Osteopetrosis, autosomal recessive 5, 259720 (3), Autosomal recessive
OTCchrXXp21.1Ornithine transcarbamylase deficiency, 311250 (3), X-linked recessive
OTOAchr1616p12.2Deafness, autosomal recessive 22, 607039 (3), Autosomal recessive
OTOFchr22p23-p22Auditory neuropathy, autosomal recessive, 1, 601071 (3), Autosomal recessive; Deafness, autosomal recessive 9, 601071 (3), Autosomal recessive
OTOGchr1111p14.3Deafness, autosomal recessive 18B, 614945 (3), Autosomal recessive
OTOGLchr1212q21.31Deafness, autosomal recessive 84B, 614944 (3), Autosomal recessive
OXCT1chr55p13Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
P2RY12chr33q24-q25Bleeding disorder, platelet-type, 8, 609821 (3), Autosomal recessive
P3H1chr11p34Osteogenesis imperfecta, type VIII, 610915 (3), Autosomal recessive
P3H2chr33q29Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3), Autosomal recessive
PADI6chr11p36.13Preimplantation embryonic lethality 2, 617234 (3), Autosomal recessive
PAHchr1212q24.1[Hyperphenylalaninemia, non-PKU mild], 261600 (3), Autosomal recessive; Phenylketonuria, 261600 (3), Autosomal recessive
PAK3chrXXq23Mental retardation, X-linked 30/47, 300558 (3), X-linked recessive
PAM16chr1616p13.3Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3), Autosomal recessive
PANK2chr2020p13-p12.3HARP syndrome, 607236 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 1, 234200 (3), Autosomal recessive
PAPSS2chr1010q22-q24Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3), Autosomal recessive
PARK7chr11p36Parkinson disease 7, autosomal recessive early-onset, 606324 (3), Autosomal recessive
PARNchr1616p13.12Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3), Autosomal dominant; Dyskeratosis congenita, autosomal recessive 6, 616353 (3), Autosomal recessive
PARS2chr11p32.2Epileptic encephalopathy, early infantile, 75, 618437 (3), Autosomal recessive
PAX1chr2020p11.2Otofaciocervical syndrome 2, 615560 (3), Autosomal recessive
PAX3chr22q36.1Craniofacial-deafness- hand syndrome, 122880 (3), Autosomal dominant; Rhabdomyosarcoma 2, alveolar, 268220 (3), Somatic mutation; Waardenburg syndrome, type 1, 193500 (3), Autosomal dominant; Waardenburg syndrome, type 3, 148820 (3), Autosomal recessive, Autosomal dominant
PAX4chr77q32Maturity-onset diabetes of the young, type IX, 612225 (3); Diabetes mellitus, type 2, 125853 (3), Autosomal dominant; {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3), Autosomal recessive, Autosomal dominant
PAX7chr11p36.2-p36.12Myopathy, congenital, progressive, with scoliosis, 618578 (3), Autosomal recessive; Rhabdomyosarcoma 2, alveolar, 268220 (3), Somatic mutation
PCchr1111q13.4-q13.5Pyruvate carboxylase deficiency, 266150 (3), Autosomal recessive
PCBD1chr1010q22Hyperphenylalaninemia, BH4-deficient, D, 264070 (3), Autosomal recessive
PCCAchr1313q32Propionicacidemia, 606054 (3), Autosomal recessive
PCCBchr33q21-q22Propionicacidemia, 606054 (3), Autosomal recessive
PCDH15chr1010q21-q22Usher syndrome, type 1D/F digenic, 601067 (3), Digenic recessive, Autosomal recessive; Usher syndrome, type 1F, 602083 (3), Autosomal recessive; Deafness, autosomal recessive 23, 609533 (3), Autosomal recessive
PCDH19chrXXq22Epileptic encephalopathy, early infantile, 9, 300088 (3), X-linked
PCK1chr2020q13.31?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3), Autosomal recessive
PCK2chr1414q11.2-q12PEPCK deficiency, mitochondrial, 261650 (1), Autosomal recessive
PCLOchr77q11.23-q21.1?Pontocerebellar hypoplasia, type 3, 608027 (3), Autosomal recessive
PCNAchr2020p12?Ataxia-telangiectasia-like disorder 2, 615919 (3), Autosomal recessive
PCNTchr2121q22.3Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3), Autosomal recessive
PCSK1chr55q15-q21{Obesity, susceptibility to, BMIQ12}, 612362 (3); Obesity with impaired prohormone processing, 600955 (3), Autosomal recessive
PCYT1Achr33q29Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3), Autosomal recessive
PDE10Achr66q27Dyskinesia, limb and orofacial, infantile-onset, 616921 (3), Autosomal recessive; Striatal degeneration, autosomal dominant, 616922 (3), Autosomal dominant
PDE6Achr55q31.2-q34
PDE6Bchr44p16.3Night blindness, congenital stationary, autosomal dominant 2, 163500 (3), Autosomal dominant; Retinitis pigmentosa-40, 613801 (3), Autosomal recessive
PDE6Cchr1010q24Cone dystrophy 4, 613093 (3), Autosomal recessive
PDE6Dchr22q36-q37?Joubert syndrome 22, 615665 (3), Autosomal recessive
PDE6Gchr1717q25Retinitis pigmentosa 57, 613582 (3), Autosomal recessive
PDE6Hchr1212p13Retinal cone dystrophy 3, 610024 (3), Autosomal recessive, Autosomal dominant; Achromatopsia 6, 610024 (3), Autosomal recessive, Autosomal dominant
PDHA1chrXXp22.2-p22.1Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3), X-linked dominant
PDHBchr33p13-q23
PDHXchr1111p13Lacticacidemia due to PDX1 deficiency, 245349 (3), Autosomal recessive
PDP1chr88q22.1Pyruvate dehydrogenase phosphatase deficiency, 608782 (3), Autosomal recessive
PDSS1chr1010p12.1Coenzyme Q10 deficiency, primary, 2, 614651 (3), Autosomal recessive
PDSS2chr66q21Coenzyme Q10 deficiency, primary, 3, 614652 (3), Autosomal recessive
PDX1chr1313q12.1{Diabetes mellitus, type II, susceptibility to}, 125853 (3), Autosomal dominant; Pancreatic agenesis 1, 260370 (3), Autosomal recessive; MODY, type IV, 606392 (3)
PDXKchr2121q22.3Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, 618511 (3), Autosomal recessive
PDZD7chr1010q24.3Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3), Digenic dominant, Autosomal recessive; Deafness, autosomal recessive 57, 618003 (3), Autosomal recessive; {Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3), Autosomal recessive
PEPDchr1919cen-q13.11Prolidase deficiency, 170100 (3), Autosomal recessive
PET100chr1919p13.2Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive
PEX1chr77q21-q22Heimler syndrome 1, 234580 (3), Autosomal recessive; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3), Autosomal recessive; Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3), Autosomal recessive
PEX10chr11p36.32Peroxisome biogenesis disorder 6B, 614871 (3), Autosomal recessive; Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3), Autosomal recessive
PEX11Bchr11q21.1?Peroxisome biogenesis disorder 14B, 614920 (3), Autosomal recessive
PEX12chr1717q12Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3), Autosomal recessive; Peroxisome biogenesis disorder 3B, 266510 (3), Autosomal recessive
PEX13chr22p15Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3), Autosomal recessive; Peroxisome biogenesis disorder 11B, 614885 (3), Autosomal recessive
PEX14chr11p36.2Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3), Autosomal recessive
PEX16chr1111p12-p11.2Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3), Autosomal recessive; Peroxisome biogenesis disorder 8B, 614877 (3), Autosomal recessive
PEX19chr11q22Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3), Autosomal recessive
PEX2chr88q21.1Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3), Autosomal recessive; Peroxisome biogenesis disorder 5B, 614867 (3), Autosomal recessive
PEX26chr2222q11.21Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3), Autosomal recessive; Peroxisome biogenesis disorder 7B, 614873 (3), Autosomal recessive
PEX3chr66q24.2Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3), Autosomal recessive; ?Peroxisome biogenesis disorder 10B, 617370 (3), Autosomal recessive
PEX5chr1212p13.3Peroxisome biogenesis disorder 2B, 202370 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 5, 616716 (3), Autosomal recessive; Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3), Autosomal recessive
PEX6chr66p21.1Peroxisome biogenesis disorder 4B, 614863 (3), Autosomal recessive, Autosomal dominant; Heimler syndrome 2, 616617 (3), Autosomal recessive; Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3), Autosomal recessive
PEX7chr66q23.3Peroxisome biogenesis disorder 9B, 614879 (3), Autosomal recessive; Rhizomelic chondrodysplasia punctata, type 1, 215100 (3), Autosomal recessive
PFKMchr1212q13.3Glycogen storage disease VII, 232800 (3), Autosomal recessive
PGAM2chr77p13-p12.3Glycogen storage disease X, 261670 (3), Autosomal recessive
PGAP1chr22q33.1Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive
PGAP2chr1111p15.5Hyperphosphatasia with mental retardation syndrome 3, 614207 (3), Autosomal recessive
PGAP3chr1717q12Hyperphosphatasia with mental retardation syndrome 4, 615716 (3), Autosomal recessive
PGK1chrXXq13Phosphoglycerate kinase 1 deficiency, 300653 (3), X-linked recessive
PGM1chr11p31Congenital disorder of glycosylation, type It, 614921 (3), Autosomal recessive
PGM3chr66q12Immunodeficiency 23, 615816 (3), Autosomal recessive
PGRchr1111q22?Progesterone resistance, 264080 (2), Autosomal recessive
PHC1chr1212p13.31?Microcephaly 11, primary, autosomal recessive, 615414 (3), Autosomal recessive
PHF6chrXXq26.3Borjeson-Forssman-Lehmann syndrome, 301900 (3), X-linked recessive
PHF8chrXXp11.2Mental retardation syndrome, X-linked, Siderius type, 300263 (3), X-linked recessive
PHGDHchr11p12Neu-Laxova syndrome 1, 256520 (3), Autosomal recessive; Phosphoglycerate dehydrogenase deficiency, 601815 (3), Autosomal recessive
PHKA1chrXXq13Muscle glycogenosis, 300559 (3), X-linked recessive
PHKA2chrXXp22.2-p22.1Glycogen storage disease, type IXa2, 306000 (3), X-linked recessive; Glycogen storage disease, type IXa1, 306000 (3), X-linked recessive
PHKBchr1616q12-q13Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3), Autosomal recessive
PHKG2chr1616p12.1-p11.2Glycogen storage disease IXc, 613027 (3), Autosomal recessive; Cirrhosis due to liver phosphorylase kinase deficiency (3)
PHOX2Achr1111q13.3-q13.4Fibrosis of extraocular muscles, congenital, 2, 602078 (3), Autosomal recessive
PHYHchr1010pter-p11.2Refsum disease, 266500 (3), Autosomal recessive
PI4KAchr2222q11.21Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3), Autosomal recessive
PIBF1chr1313q21-q22Joubert syndrome 33, 617767 (3), Autosomal recessive
PIEZO1chr1616q24.3Lymphatic malformation 6, 616843 (3), Autosomal recessive; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3), Autosomal dominant
PIEZO2chr1818p11.22Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive; Arthrogryposis, distal, type 5, 108145 (3), Autosomal dominant; ?Marden-Walker syndrome, 248700 (3), Autosomal dominant; Arthrogryposis, distal, type 3, 114300 (3), Autosomal dominant
PIGAchrXXp22.1Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3), X-linked recessive; Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)
PIGLchr1717p12-p11.2CHIME syndrome, 280000 (3), Autosomal recessive
PIGMchr11q23.2Glycosylphosphatidylinositol deficiency, 610293 (3), Autosomal recessive
PIGNchr1818q21.33Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3), Autosomal recessive
PIGOchr99p13Hyperphosphatasia with mental retardation syndrome 2, 614749 (3), Autosomal recessive
PIGQchr1616p13.3Epileptic encephalopathy, early infantile, 77, 618548 (3), Autosomal recessive
PIGTchr2020q13.12Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3), Autosomal recessive; ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3), Somatic mutation, Autosomal dominant
PIGVchr11p36.11Hyperphosphatasia with mental retardation syndrome 1, 239300 (3), Autosomal recessive
PIGWchr1717q12Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3), Autosomal recessive
PIK3R1chr55q13?Agammaglobulinemia 7, autosomal recessive, 615214 (3), Autosomal recessive; SHORT syndrome, 269880 (3), Autosomal dominant; Immunodeficiency 36, 616005 (3), Autosomal dominant
PIK3R5chr1717p13.1Ataxia-oculomotor apraxia 3, 615217 (3), Autosomal recessive
PINK1chr11p36Parkinson disease 6, early onset, 605909 (3), Autosomal recessive
PIP5K1Cchr1919p13.3Lethal congenital contractural syndrome 3, 611369 (3), Autosomal recessive
PITX3chr1010q25Anterior segment dysgenesis 1, multiple subtypes, 107250 (3), Autosomal dominant; Cataract 11, syndromic, autosomal recessive, 610623 (3), Autosomal recessive, Autosomal dominant; Cataract 11, multiple types, 610623 (3), Autosomal recessive, Autosomal dominant
PJVKchr22q31.2Deafness, autosomal recessive 59, 610220 (3), Autosomal recessive
PKD1L1chr77p13-p12Heterotaxy, visceral, 8, autosomal, 617205 (3), Autosomal recessive
PKHD1chr66p12.3-p12.2Polycystic kidney disease 4, with or without hepatic disease, 263200 (3), Autosomal recessive
PKLRchr11q21Pyruvate kinase deficiency, 266200 (3), Autosomal recessive; Adenosine triphosphate, elevated, of erythrocytes, 102900 (3), Autosomal dominant
PKP1chr11q32Ectodermal dysplasia/skin fragility syndrome, 604536 (3), Autosomal recessive
PLA2G4Achr11q25Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3), Autosomal recessive
PLA2G5chr11p36-p34[Fleck retina, familial benign], 228980 (3), Autosomal recessive
PLA2G6chr2222q13.1Infantile neuroaxonal dystrophy 1, 256600 (3), Autosomal recessive; Parkinson disease 14, autosomal recessive, 612953 (3), Autosomal recessive; Neurodegeneration with brain iron accumulation 2B, 610217 (3), Autosomal recessive
PLA2G7chr66p21.2-p12{Asthma, susceptibility to}, 600807 (3), Autosomal dominant; Platelet-activating factor acetylhydrolase deficiency, 614278 (3), Autosomal recessive; {Atopy, susceptibility to}, 147050 (3), Autosomal dominant
PLCB1chr2020p12Epileptic encephalopathy, early infantile, 12, 613722 (3), Autosomal recessive
PLCB4chr2020p12Auriculocondylar syndrome 2, 614669 (3), Autosomal recessive, Autosomal dominant
PLCD1chr33p22-p21.3Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3), Autosomal recessive, Autosomal dominant
PLCE1chr1010q23Nephrotic syndrome, type 3, 610725 (3), Autosomal recessive
PLCZ1chr1212p12.3?Spermatogenic failure 17, 617214 (3), Autosomal recessive
PLECchr88q24Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3), Autosomal recessive; Epidermolysis bullosa simplex with pyloric atresia, 612138 (3), Autosomal recessive; Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3), Autosomal recessive; ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3), Autosomal recessive; Epidermolysis bullosa simplex, Ogna type, 131950 (3), Autosomal dominant
PLEKHG5chr11p36Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3), Autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3), Autosomal recessive
PLEKHM1chr1717q21.3Osteopetrosis, autosomal dominant 3, 618107 (3), Autosomal dominant; ?Osteopetrosis, autosomal recessive 6, 611497 (3), Autosomal recessive
PLGchr66q26Dysplasminogenemia, 217090 (3), Autosomal recessive; Plasminogen deficiency, type I, 217090 (3), Autosomal recessive
PLK4chr44q27-q28Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3), Autosomal recessive
PLOD1chr11p36.3-p36.2Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3), Autosomal recessive
PLOD2chr33q23-q24Bruck syndrome 2, 609220 (3), Autosomal recessive
PLOD3chr77q22Lysyl hydroxylase 3 deficiency, 612394 (3), Autosomal recessive
PLP1chrXXq22Pelizaeus-Merzbacher disease, 312080 (3), X-linked recessive; Spastic paraplegia 2, X-linked, 312920 (3), X-linked recessive
PMM2chr1616p13.3-p13.2Congenital disorder of glycosylation, type Ia, 212065 (3), Autosomal recessive
PMP22chr1717p11.2Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant; ?Neuropathy, inflammatory demyelinating, 139393 (3), ?Autosomal dominant; Charcot-Marie-Tooth disease, type 1E, 118300 (3), Autosomal dominant; Roussy-Levy syndrome, 180800 (3), Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500 (3), Autosomal dominant; Charcot-Marie-Tooth disease, type 1A, 118220 (3), Autosomal dominant
PMPCAchr99q34.3Spinocerebellar ataxia, autosomal recessive 2, 213200 (3), Autosomal recessive
PMS2chr77p22Mismatch repair cancer syndrome, 276300 (3), Autosomal recessive; Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
PNKPchr1919q13.4Microcephaly, seizures, and developmental delay, 613402 (3), Autosomal recessive; Ataxia-oculomotor apraxia 4, 616267 (3), Autosomal recessive; ?Charcot-Marie-Tooth disease, type 2B2, 605589 (3), Autosomal recessive
PNLIPchr1010q26.1?Pancreatic lipase deficiency, 614338 (3), Autosomal recessive
PNPchr1414q13.1Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3), Autosomal recessive
PNPLA1chr66p21.31Ichthyosis, congenital, autosomal recessive 10, 615024 (3), Autosomal recessive
PNPLA2chr1111p15.5Neutral lipid storage disease with myopathy, 610717 (3), Autosomal recessive
PNPLA6chr1919p13.3Spastic paraplegia 39, autosomal recessive, 612020 (3), Autosomal recessive; Boucher-Neuhauser syndrome, 215470 (3), Autosomal recessive; Oliver-McFarlane syndrome, 275400 (3), Autosomal recessive; ?Laurence-Moon syndrome, 245800 (3), Autosomal recessive
PNPOchr1717q21.32Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3), Autosomal recessive
PNPT1chr22p16.1Deafness, autosomal recessive 70, 614934 (3), Autosomal recessive; Combined oxidative phosphorylation deficiency 13, 614932 (3), Autosomal recessive
POC1Achr33p21.2Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3), Autosomal recessive
POC1Bchr1212q21.33Cone-rod dystrophy 20, 615973 (3), Autosomal recessive
POF1BchrXXq21?Premature ovarian failure 2B, 300604 (3), X-linked recessive
POGLUT1chr33q13.33?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3), Autosomal recessive; Dowling-Degos disease 4, 615696 (3), Autosomal dominant
POLA1chrXXp22.3-p21.1Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive; Van Esch-O'Driscoll syndrome, 301030 (3), X-linked recessive
POLEchr1212q24.3FILS syndrome, 615139 (3), Autosomal recessive; IMAGE-I syndrome, 618336 (3), Autosomal recessive; {Colorectal cancer, susceptibility to, 12}, 615083 (3), Autosomal dominant
POLGchr1515q25Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3), Autosomal recessive; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3), Autosomal recessive; Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3), Autosomal recessive
POLG2chr1717q23-q24Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 (3), Autosomal recessive
POLHchr66p21.1-p12Xeroderma pigmentosum, variant type, 278750 (3), Autosomal recessive
POLR1Cchr66p22.3Treacher Collins syndrome 3, 248390 (3), Autosomal recessive; Leukodystrophy, hypomyelinating, 11, 616494 (3), Autosomal recessive
POLR1Dchr1313q12.2Treacher Collins syndrome 2, 613717 (3), Autosomal recessive, Autosomal dominant
POLR3Achr1010q22.3Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3), Autosomal recessive; Wiedemann-Rautenstrauch syndrome, 264090 (3), Autosomal recessive
POLR3Bchr1212q23.3Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3), Autosomal recessive
POMCchr22p23.3{Obesity, early-onset, susceptibility to}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3), Autosomal recessive
POMGNT1chr11p34-p33Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3), Autosomal recessive; Retinitis pigmentosa 76, 617123 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3), Autosomal recessive
POMGNT2chr33p22.1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3), Autosomal recessive
POMKchr88p11?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3), Autosomal recessive
POMPchr1313q12.3Proteasome-associated autoinflammatory syndrome 2, 618048 (3), Autosomal dominant; Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3), Autosomal recessive
POMT1chr99q34.1Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3), Autosomal recessive
POMT2chr1414q24.3Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3), Autosomal recessive; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3), Autosomal recessive
POP1chr88q22Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
PORchr77q11.2Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3); Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3), Autosomal recessive
POU1F1chr33p11Pituitary hormone deficiency, combined, 1, 613038 (3), Autosomal recessive, Autosomal dominant
POU3F4chrXXq21.1Deafness, X-linked 2, 304400 (3), X-linked recessive
PPARGchr33p25[Obesity, resistance to] (3); Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3), Autosomal dominant; Insulin resistance, severe, digenic, 604367 (3), Autosomal dominant; Obesity, severe, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant; Lipodystrophy, familial partial, type 3, 604367 (3), Autosomal dominant
PPIBchr1515q21-q22Osteogenesis imperfecta, type IX, 259440 (3), Autosomal recessive
PPP1R15Bchr11q32.1Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3), Autosomal recessive
PPT1chr11p32Ceroid lipofuscinosis, neuronal, 1, 256730 (3), Autosomal recessive
PQBP1chrXXp11.23Renpenning syndrome, 309500 (3), X-linked recessive
PRCDchr1717q25.1Retinitis pigmentosa 36, 610599 (3)
PRDM5chr44q27Brittle cornea syndrome 2, 614170 (3), Autosomal recessive
PREPLchr22p21Myasthenic syndrome, congenital, 22, 616224 (3), Autosomal recessive
PRF1chr1010q22Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3), Autosomal recessive; Aplastic anemia, 609135 (3); Lymphoma, non-Hodgkin, 605027 (3)
PRG4chr11q24-q25Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3), Autosomal recessive
PRICKLE1chr1212q12Epilepsy, progressive myoclonic 1B, 612437 (3), Autosomal recessive
PRKACGchr99q21.11?Bleeding disorder, platelet-type, 19, 616176 (3), Autosomal recessive
PRKCDchr33pAutoimmune lymphoproliferative syndrome, type III, 615559 (3), Autosomal recessive
PRKDCchr88q11Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3), Autosomal recessive
PRKNchr66q25.2-q27Parkinson disease, juvenile, type 2, 600116 (3), Autosomal recessive; Ovarian cancer, somatic, 167000 (3); Adenocarcinoma of lung, somatic, 211980 (3)
PRKRAchr22q31.3Dystonia 16, 612067 (3), Autosomal recessive
PRLRchr55p13.2Hyperprolactinemia, 615555 (3), Autosomal recessive, Autosomal dominant; Multiple fibroadenomas of the breast, 615554 (3), Autosomal dominant
PRMT7chr1616q22.1Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3), Autosomal recessive
PROCchr22q13-q14Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3), Autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3), Autosomal recessive
PRODHchr2222q11.2Hyperprolinemia, type I, 239500 (3), Autosomal recessive; {Schizophrenia, susceptibility to, 4}, 600850 (3), Autosomal dominant
PROM1chr44p15.3Retinitis pigmentosa 41, 612095 (3), Autosomal recessive; Stargardt disease 4, 603786 (3), Autosomal dominant; Cone-rod dystrophy 12, 612657 (3), Autosomal recessive, Autosomal dominant; Macular dystrophy, retinal, 2, 608051 (3), Autosomal dominant
PROP1chr55qPituitary hormone deficiency, combined, 2, 262600 (3), Autosomal recessive
PROS1chr33q11.2Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3), Autosomal recessive; Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3), Autosomal dominant
PRPHchr1212q12-q13{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3), Autosomal recessive, Autosomal dominant
PRPH2chr66p21.1-cenMacular dystrophy, patterned, 1, 169150 (3), Autosomal dominant; Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant; Choroidal dystrophy, central areolar 2, 613105 (3), Autosomal dominant; Retinitis pigmentosa 7 and digenic form, 608133 (3), Autosomal recessive, Autosomal dominant; Leber congenital amaurosis 18, 608133 (3), Autosomal recessive, Autosomal dominant; Macular dystrophy, vitelliform, 3, 608161 (3), Autosomal dominant
PRPS1chrXXq22-q24Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3), X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3), X-linked recessive; Deafness, X-linked 1, 304500 (3), X-linked; Arts syndrome, 301835 (3), X-linked recessive; Gout, PRPS-related, 300661 (3), X-linked recessive
PRRX1chr11q24Agnathia-otocephaly complex, 202650 (3), Autosomal recessive, Autosomal dominant
PRSS12chr44q25-q26Mental retardation, autosomal recessive 1, 249500 (3), Autosomal recessive
PRSS56chr22q37.1Microphthalmia, isolated 6, 613517 (3), Autosomal recessive
PRXchr1919q13.1-q13.2Charcot-Marie- Tooth disease, type 4F, 614895 (3), Autosomal recessive; Dejerine-Sottas disease, 145900 (3), Autosomal recessive, Autosomal dominant
PSAPchr1010q22.1Gaucher disease, atypical, 610539 (3); Krabbe disease, atypical, 611722 (3), Autosomal recessive; Combined SAP deficiency, 611721 (3), Autosomal recessive; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3), Autosomal recessive
PSAT1chr99q21.31Neu-Laxova syndrome 2, 616038 (3), Autosomal recessive; ?Phosphoserine aminotransferase deficiency, 610992 (3), Autosomal recessive
PSMB8chr66p21.3Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3), Autosomal recessive
PSMB9chr66p21.3?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3), Autosomal recessive
PSMC3IPchr1717q21.2Ovarian dysgenesis 3, 614324 (3), Autosomal recessive
PSPHchr77p11.2Phosphoserine phosphatase deficiency, 614023 (3), Autosomal recessive
PTCHD1chrXXp22.11{Autism, susceptibility to, X-linked 4}, 300830 (3), X-linked recessive
PTENchr1010q23.31Prostate cancer, somatic, 176807 (3); {Glioma susceptibility 2}, 613028 (3); Cowden syndrome 1, 158350 (3), Autosomal dominant; Lhermitte-Duclos syndrome, 158350 (3), Autosomal dominant; Macrocephaly/autism syndrome, 605309 (3), Autosomal dominant; {Meningioma}, 607174 (3), Autosomal dominant
PTF1Achr1010p12.3Pancreatic and cerebellar agenesis, 609069 (3), Autosomal recessive; Pancreatic agenesis 2, 615935 (3), Autosomal recessive
PTGER2chr1414q22{Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive
PTHchr1111p15.3-p15.1Hypoparathyroidism, familial isolated 1, 146200 (3), Autosomal recessive, Autosomal dominant
PTH1Rchr33p22-p21.1Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3), Autosomal dominant; Failure of tooth eruption, primary, 125350 (3), Autosomal dominant; Eiken syndrome, 600002 (3), Autosomal recessive; Chondrodysplasia, Blomstrand type, 215045 (3), Autosomal recessive
PTPN14chr11q32Choanal atresia and lymphedema, 613611 (3), Autosomal recessive
PTPN22chr11p13{Diabetes, type 1, susceptibility to}, 222100 (3), Autosomal recessive; {Systemic lupus erythematosus susceptibility to}, 152700 (3), Autosomal dominant; {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PTPN23chr33p21.3Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, 618890 (3), Autosomal recessive
PTPRCchr11q31-q32{Hepatitis C virus, susceptibility to}, 609532 (3); Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3), Autosomal recessive
PTPRFchr11p32?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3), Autosomal recessive
PTPROchr1212p13-p12Nephrotic syndrome, type 6, 614196 (3), Autosomal recessive
PTPRQchr1212q21.2Deafness, autosomal dominant 73, 617663 (3), Autosomal dominant; Deafness, autosomal recessive 84A, 613391 (3), Autosomal recessive
PTRH2chr1717q23.1Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3), Autosomal recessive
PTSchr1111q22.3-q23.3Hyperphenylalaninemia, BH4-deficient, A, 261640 (3), Autosomal recessive
PUS1chr1212q24.33Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3), Autosomal recessive
PXDNchr22p25.3Anterior segment dysgenesis 7, with sclerocornea, 269400 (3), Autosomal recessive
PYCR1chr1717q25.3Cutis laxa, autosomal recessive, type IIIB, 614438 (3); Cutis laxa, autosomal recessive, type IIB, 612940 (3), Autosomal recessive
PYCR2chr11q42.13Leukodystrophy, hypomyelinating, 10, 616420 (3), Autosomal recessive
PYGLchr1414q22.1Glycogen storage disease VI, 232700 (3), Autosomal recessive
PYGMchr1111q13McArdle disease, 232600 (3), Autosomal recessive
QDPRchr44p15.31Hyperphenylalaninemia, BH4-deficient, C, 261630 (3), Autosomal recessive
RAB18chr1010p12.1Warburg micro syndrome 3, 614222 (3), Autosomal recessive
RAB23chr66p11Carpenter syndrome, 201000 (3), Autosomal recessive
RAB27Achr1515q21Griscelli syndrome, type 2, 607624 (3), Autosomal recessive
RAB28chr44p15.33Cone-rod dystrophy 18, 615374 (3), Autosomal recessive
RAB33Bchr44q31.1Smith-McCort dysplasia 2, 615222 (3), Autosomal recessive
RAB39BchrXXq28Waisman syndrome, 311510 (3), X-linked recessive; Mental retardation, X-linked 72, 300271 (3), X-linked recessive
RAB3GAP1chr22q21.3Warburg micro syndrome 1, 600118 (3), Autosomal recessive
RAB3GAP2chr11q41Warburg micro syndrome 2, 614225 (3), Autosomal recessive; Martsolf syndrome, 212720 (3), Autosomal recessive
RAD21chr88q24?Mungan syndrome, 611376 (3), Autosomal recessive; Cornelia de Lange syndrome 4, 614701 (3), Autosomal dominant
RAD51Cchr1717q22{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3); Fanconi anemia, complementation group O, 613390 (3), Autosomal recessive
RAG1chr1111p13Omenn syndrome, 603554 (3), Autosomal recessive; Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive
RAG2chr1111p13Severe combined immunodeficiency, B cell-negative, 601457 (3), Autosomal recessive; Combined cellular and humoral immune defects with granulomas, 233650 (3), Autosomal recessive; Omenn syndrome, 603554 (3), Autosomal recessive
RALGAPA1chr1414q13.2Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, 618797 (3), Autosomal recessive
RAPSNchr1111p11.2-p11.1Fetal akinesia deformation sequence 2, 618388 (3), Autosomal recessive; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3), Autosomal recessive
RARBchr33p24Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive, Autosomal dominant
RARS2chr66q16.1Pontocerebellar hypoplasia, type 6, 611523 (3), Autosomal recessive
RASGRP1chr1515q15Immunodeficiency 64, 618534 (3), Autosomal recessive
RASGRP2chr1111q13?Bleeding disorder, platelet-type, 18, 615888 (3), Autosomal recessive
RAXchr1818q21.3Microphthalmia, isolated 3, 611038 (3), Autosomal recessive
RBBP8chr1818q11.2Jawad syndrome, 251255 (3), Autosomal recessive; Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3), Autosomal recessive
RBCK1chr2020p13Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3), Autosomal recessive
RBM10chrXXp11.23TARP syndrome, 311900 (3), X-linked recessive
RBM28chr77q32.1?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3), Autosomal recessive
RBM8Achr11q12Thrombocytopenia-absent radius syndrome, 274000 (3), Autosomal recessive
RBP3chr1010q11.2?Retinitis pigmentosa 66, 615233 (3), Autosomal recessive
RBP4chr1010q24Microphthalmia, isolated, with coloboma 10, 616428 (3), Autosomal dominant; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3), Autosomal recessive
RCBTB1chr1313q14Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
RD3chr11q32.3Leber congenital amaurosis 12, 610612 (3), Autosomal recessive
RDH11chr1414q23.3?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3), Autosomal recessive
RDH12chr1414q23.3Leber congenital amaurosis 13, 612712 (3), Autosomal recessive, Autosomal dominant
RDH5chr1212q13-q14Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant
RDXchr1111q23Deafness, autosomal recessive 24, 611022 (3), Autosomal recessive
RECQL4chr88q24.3RAPADILINO syndrome, 266280 (3), Autosomal recessive; Baller-Gerold syndrome, 218600 (3), Autosomal recessive; Rothmund-Thomson syndrome, type 2,, 268400 (3), Autosomal recessive
REEP2chr55q31?Spastic paraplegia 72, autosomal dominant, 615625 (3), Autosomal recessive, Autosomal dominant; ?Spastic paraplegia 72, autosomal recessive, 615625 (3), Autosomal recessive, Autosomal dominant
RELNchr77q22{Epilepsy, familial temporal lobe, 7}, 616436 (3), Autosomal dominant; Lissencephaly 2 (Norman-Roberts type), 257320 (3), Autosomal recessive
RENchr11q32[Hyperproreninemia] (3); Renal tubular dysgenesis, 267430 (3), Autosomal recessive; Hyperuricemic nephropathy, familial juvenile 2, 613092 (3), Autosomal dominant
RETREG1chr55p15.1Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3), Autosomal recessive
RFC1chr44p14-p13Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575 (3), Autosomal recessive
RFT1chr33p21.1Congenital disorder of glycosylation, type In, 612015 (3), Autosomal recessive
RFX5chr11q21.1-q21.3Bare lymphocyte syndrome, type II, complementation group C, 209920 (3), Autosomal recessive; Bare lymphocyte syndrome, type II, complementation group E, 209920 (3), Autosomal recessive
RFX6chr66q22.2Mitchell-Riley syndrome, 615710 (3), Autosomal recessive
RFXANKchr1919p12MHC class II deficiency, complementation group B, 209920 (3), Autosomal recessive
RFXAPchr1313q14Bare lymphocyte syndrome, type II, complementation group D, 209920 (3), Autosomal recessive
RGRchr1010q23Retinitis pigmentosa 44, 613769 (3)
RHOchr33q21-q24Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant; Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3), Autosomal recessive, Autosomal dominant
RHOHchr44p13{?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 (3), Autosomal recessive
RIC1chr99p24.1CATIFA syndrome, 618761 (3), Autosomal recessive
RIMS2chr88q22.3Cone-rod synaptic disorder syndrome, congenital nonprogressive, 618970 (3), Autosomal recessive
RIN2chr2020p11.22Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3), Autosomal recessive
RINT1chr77q22.3Infantile liver failure syndrome 3, 618641 (3), Autosomal recessive
RIPK4chr2121q22.3Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3), Autosomal recessive; CHAND syndrome, 214350 (3), Autosomal recessive
RIPOR2chr66p22.3-p21.32?Deafness, autosomal recessive 104, 616515 (3), Autosomal recessive
RLBP1chr1515q26Retinitis punctata albescens, 136880 (3), Autosomal recessive, Autosomal dominant; Bothnia retinal dystrophy, 607475 (3), Autosomal recessive; Newfoundland rod-cone dystrophy, 607476 (3); Fundus albipunctatus, 136880 (3), Autosomal recessive, Autosomal dominant
RMND1chr66q25Combined oxidative phosphorylation deficiency 11, 614922 (3), Autosomal recessive
RMRPchr99p21-p12Anauxetic dysplasia 1, 607095 (3), Autosomal recessive; Cartilage-hair hypoplasia, 250250 (3), Autosomal recessive; Metaphyseal dysplasia without hypotrichosis, 250460 (3), Autosomal recessive
RNASEH2Achr1919p13.13Aicardi-Goutieres syndrome 4, 610333 (3), Autosomal recessive
RNASEH2Bchr1313q14.1Aicardi-Goutieres syndrome 2, 610181 (3), Autosomal recessive
RNASEH2Cchr1111q13.2Aicardi-Goutieres syndrome 3, 610329 (3), Autosomal recessive
RNASET2chr66q27Leukoencephalopathy, cystic, without megalencephaly, 612951 (3), Autosomal recessive
RNF168chr33q29RIDDLE syndrome, 611943 (3), Autosomal recessive
RNF216chr77p22Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3), Autosomal recessive
RNU4ATACchr22q14.2Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3), Autosomal recessive; Roifman syndrome, 616651 (3), Autosomal recessive
ROBO3chr1111q23-q25Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3), Autosomal recessive
ROGDIchr1616p13.3Kohlschutter-Tonz syndrome, 226750 (3), Autosomal recessive
ROM1chr1111q13Retinitis pigmentosa 7, digenic form, 608133 (3), Autosomal recessive, Autosomal dominant
ROR2chr99q22Brachydactyly, type B1, 113000 (3), Autosomal dominant; Robinow syndrome, autosomal recessive, 268310 (3), Autosomal recessive
RORCchr11q21Immunodeficiency 42, 616622 (3), Autosomal recessive
RP1chr88q11-q13Retinitis pigmentosa 1, 180100 (3), Autosomal recessive, Autosomal dominant
RP1L1chr88p23Retinitis pigmentosa 88, 618826 (3), Autosomal recessive; Occult macular dystrophy, 613587 (3), Autosomal dominant
RPE65chr11p31Leber congenital amaurosis 2, 204100 (3), Autosomal recessive; Retinitis pigmentosa 87 with choroidal involvement, 618697 (3), Autosomal dominant; Retinitis pigmentosa 20, 613794 (3), Autosomal recessive
RPGRchrXXp11.4Cone-rod dystrophy, X-linked, 1, 304020 (3), X-linked; Retinitis pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3); Macular degeneration, X-linked atrophic, 300834 (3), X-linked recessive
RPGRIP1chr1414q11Cone-rod dystrophy 13, 608194 (3); Leber congenital amaurosis 6, 613826 (3), Autosomal recessive
RPGRIP1Lchr1616q12.2COACH syndrome, 216360 (3), Autosomal recessive; Meckel syndrome 5, 611561 (3), Autosomal recessive; Joubert syndrome 7, 611560 (3), Autosomal recessive
RPIAchr22p11.2Ribose 5-phosphate isomerase deficiency, 608611 (3), Autosomal recessive
RPL10chrXXq28Mental retardation, X-linked, syndromic, 35, 300998 (3), X-linked recessive; {Autism, susceptibility to, X-linked 5}, 300847 (3)
RPS6KA3chrXXp22.2-p22.1Mental retardation, X-linked 19, 300844 (3), X-linked dominant; Coffin-Lowry syndrome, 303600 (3), X-linked dominant
RRM2Bchr88q23.1Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3), Autosomal dominant; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3), Autosomal recessive
RS1chrXXp22.2-p22.1Retinoschisis, 312700 (3), X-linked recessive
RSPH1chr2121q22.3Ciliary dyskinesia, primary, 24, 615481 (3), Autosomal recessive
RSPH4Achr66q22.1Ciliary dyskinesia, primary, 11, 612649 (3)
RSPH9chr66p21.1Ciliary dyskinesia, primary, 12, 612650 (3)
RSPO1chr11p34.3Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3), Autosomal recessive; Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3), Autosomal recessive
RSPO4chr2020p13Anonychia congenita, 206800 (3), Autosomal recessive
RSRC1chr33q25.32Intellectual developmental disorder, autosomal recessive 70, 618402 (3), Autosomal recessive
RTEL1chr2020q13.3Dyskeratosis congenita, autosomal recessive 5, 615190 (3), Autosomal recessive, Autosomal dominant; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3), Autosomal dominant; Dyskeratosis congenita, autosomal dominant 4, 615190 (3), Autosomal recessive, Autosomal dominant
RTTNchr1818q22.2Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3), Autosomal recessive
RUBCNchr33q29?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3), Autosomal recessive
RYR1chr1919q13.1Central core disease, 117000 (3), Autosomal recessive, Autosomal dominant; King-Denborough syndrome, 145600 (3), Autosomal dominant; {Malignant hyperthermia susceptibility 1}, 145600 (3), Autosomal dominant; Minicore myopathy with external ophthalmoplegia, 255320 (3), Autosomal recessive; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3), Autosomal recessive, Autosomal dominant
SACSchr1313q12Spastic ataxia, Charlevoix-Saguenay type, 270550 (3), Autosomal recessive
SAGchr22q37.1Oguchi disease-1, 258100 (3), Autosomal recessive; Retinitis pigmentosa 47, 613758 (3)
SALL2chr1414q11.1-q12?Coloboma, ocular, autosomal recessive, 216820 (3), Autosomal recessive
SAMD9chr77q21MIRAGE syndrome, 617053 (3), Autosomal dominant; Tumoral calcinosis, familial, normophosphatemic, 610455 (3), Autosomal recessive
SAMHD1chr2020q11.2?Chilblain lupus 2, 614415 (3), Autosomal dominant; Aicardi-Goutieres syndrome 5, 612952 (3), Autosomal recessive
SAR1Bchr55q31.1Chylomicron retention disease, 246700 (3), Autosomal recessive
SARDHchr99q34.2[Sarcosinemia], 268900 (3), Autosomal recessive
SARS2chr1919q13.2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3), Autosomal recessive
SASH1chr66q24.3?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3), Autosomal recessive; Dyschromatosis universalis hereditaria 1, 127500 (3), Autosomal dominant
SASS6chr11p21.2?Microcephaly 14, primary, autosomal recessive, 616402 (3), Autosomal recessive
SBDSchr77q11{Aplastic anemia, susceptibility to}, 609135 (3); Shwachman-Diamond syndrome, 260400 (3), Autosomal recessive
SBF1chr2222q13.33Charcot-Marie-Tooth disease, type 4B3, 615284 (3), Autosomal recessive
SBF2chr1111p15Charcot-Marie-Tooth disease, type 4B2, 604563 (3), Autosomal recessive
SC5Dchr1111q23.3Lathosterolosis, 607330 (3), Autosomal recessive
SCAPERchr1515q24Intellectual developmental disorder and retinitis pigmentosa, 618195 (3), Autosomal recessive
SCARB2chr44q13-q21Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3), Autosomal recessive
SCARF2chr2222q11Van den Ende-Gupta syndrome, 600920 (3), Autosomal recessive
SCN1Bchr1919q13.1Epileptic encephalopathy, early infantile, 52, 617350 (3), Autosomal recessive; Atrial fibrillation, familial, 13, 615377 (3), Autosomal dominant; Cardiac conduction defect, nonspecific, 612838 (3); Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3), Autosomal dominant; Brugada syndrome 5, 612838 (3)
SCN4Achr1717q23.1-q25.3Hyperkalemic periodic paralysis, type 2, 170500 (3), Autosomal dominant; Paramyotonia congenita, 168300 (3), Autosomal dominant; Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3), Autosomal dominant; Myasthenic syndrome, congenital, 16, 614198 (3), Autosomal recessive; Hypokalemic periodic paralysis, type 2, 613345 (3), Autosomal dominant
SCN5Achr33p21Atrial fibrillation, familial, 10, 614022 (3), Autosomal dominant; Sick sinus syndrome 1, 608567 (3), Autosomal recessive; {Sudden infant death syndrome, susceptibility to}, 272120 (3), Autosomal recessive; Ventricular fibrillation, familial, 1, 603829 (3); Long QT syndrome 3, 603830 (3), Autosomal dominant; Heart block, nonprogressive, 113900 (3), Autosomal dominant; Cardiomyopathy, dilated, 1E, 601154 (3), Autosomal dominant; Brugada syndrome 1, 601144 (3), Autosomal dominant; Heart block, progressive, type IA, 113900 (3), Autosomal dominant
SCN9Achr22q24Neuropathy, hereditary sensory and autonomic, type IID, 243000 (3), Autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7, 613863 (3), Autosomal dominant; Small fiber neuropathy, 133020 (3), Autosomal dominant; Paroxysmal extreme pain disorder, 167400 (3), Autosomal dominant; Insensitivity to pain, congenital, 243000 (3), Autosomal recessive; Erythermalgia, primary, 133020 (3), Autosomal dominant; Febrile seizures, familial, 3B, 613863 (3), Autosomal dominant
SCNN1Achr1212p13Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive; ?Liddle syndrome 3, 618126 (3), Autosomal dominant; Bronchiectasis with or without elevated sweat chloride 2, 613021 (3), Autosomal dominant
SCNN1Bchr1616p13-p12Bronchiectasis with or without elevated sweat chloride 1, 211400 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive; Liddle syndrome 1, 177200 (3), Autosomal dominant
SCNN1Gchr1616p13-p12Bronchiectasis with or without elevated sweat chloride 3, 613071 (3), Autosomal dominant; Liddle syndrome 2, 618114 (3), Autosomal dominant; Pseudohypoaldosteronism, type I, 264350 (3), Autosomal recessive
SCO1chr1717p13-p12Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive
SCO2chr2222q13Myopia 6, 608908 (3), Autosomal dominant; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3), Autosomal recessive
SCP2chr11p32?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3), Autosomal recessive
SDC3chr11pter-p22.3{Obesity, association with}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant
SDCCAG8chr11q43-q44Bardet-Biedl syndrome 16, 615993 (3), Autosomal recessive; Senior-Loken syndrome 7, 613615 (3)
SDHAchr55p15Cardiomyopathy, dilated, 1GG, 613642 (3), Autosomal recessive; Leigh syndrome, 256000 (3), Mitochondrial, Autosomal recessive; Paragangliomas 5, 614165 (3), Autosomal dominant; Mitochondrial respiratory chain complex II deficiency, 252011 (3), Autosomal recessive
SDHAF1chr1919q12-q13.2Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive
SDHDchr1111q23Paragangliomas 1, with or without deafness, 168000 (3), Autosomal dominant; Mitochondrial complex II deficiency, 252011 (3), Autosomal recessive; Paraganglioma and gastric stromal sarcoma, 606864 (3); Pheochromocytoma, 171300 (3), Autosomal dominant
SEC23Achr1414q21.1Craniolenticulosutural dysplasia, 607812 (3), Autosomal recessive
SEC23Bchr2020p11.2?Cowden syndrome 7, 616858 (3), Autosomal dominant; Dyserythropoietic anemia, congenital, type II, 224100 (3), Autosomal recessive
SEC24Dchr44q26Cole-Carpenter syndrome 2, 616294 (3), Autosomal recessive
SECISBP2chr99q22.2Thyroid hormone metabolism, abnormal, 609698 (3), Autosomal recessive
SELENONchr11p36-p35Muscular dystrophy, rigid spine, 1, 602771 (3), Autosomal recessive; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant
SEMA4Achr11q22Cone-rod dystrophy 10, 610283 (3), Autosomal recessive; Retinitis pigmentosa 35, 610282 (3), Autosomal recessive, Autosomal dominant
SEPSECSchr44p15.2Pontocerebellar hypoplasia type 2D, 613811 (3), Autosomal recessive
SERAC1chr66q25.33-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3), Autosomal recessive
SERPINA1chr1414q32.1Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3), Autosomal recessive; Emphysema-cirrhosis, due to AAT deficiency, 613490 (3), Autosomal recessive; Emphysema due to AAT deficiency, 613490 (3), Autosomal recessive
SERPINA6chr1414q32.1Corticosteroid-binding globulin deficiency, 611489 (3), Autosomal recessive, Autosomal dominant
SERPINB6chr66p25?Deafness, autosomal recessive 91, 613453 (3), Autosomal recessive
SERPINB7chr1818q21.3Palmoplantar keratoderma, Nagashima type, 615598 (3), Autosomal recessive
SERPINC1chr11q23-q25Thrombophilia due to antithrombin III deficiency, 613118 (3), Autosomal recessive, Autosomal dominant
SERPINE1chr77q21.3-q22{Transcription of plasminogen activator inhibitor, modulator of} (3); Plasminogen activator inhibitor-1 deficiency, 613329 (3), Autosomal recessive, Autosomal dominant
SERPINF1chr1717p13.3Osteogenesis imperfecta, type VI, 613982 (3), Autosomal recessive
SERPINF2chr1717pter-p12Alpha-2-plasmin inhibitor deficiency, 262850 (3), Autosomal recessive
SERPING1chr1111q11-q13.1Angioedema, hereditary, types I and II, 106100 (3), Autosomal recessive, Autosomal dominant; Complement component 4, partial deficiency of, 120790 (3), Autosomal dominant
SERPINH1chr1111q13.5Osteogenesis imperfecta, type X, 613848 (3), Autosomal recessive; {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
SETXchr99q34Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 (3), Autosomal recessive; Amyotrophic lateral sclerosis 4, juvenile, 602433 (3), Autosomal dominant
SFTPBchr22p12-p11.2Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3), Autosomal recessive
SFTPCchr88p21Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3), Autosomal dominant
SFXN4chr1010q26.11Combined oxidative phosphorylation deficiency 18, 615578 (3), Autosomal recessive
SGCAchr1717q12-q21.33Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3), Autosomal recessive
SGCBchr44q12Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3), Autosomal recessive
SGCDchr55q33Cardiomyopathy, dilated, 1L, 606685 (3); Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3), Autosomal recessive
SGCGchr1313q12Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3), Autosomal recessive
SGO1chr33p24.3Chronic atrial and intestinal dysrhythmia, 616201 (3), Autosomal recessive
SGSHchr1717q25.3Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3), Autosomal recessive
SH2D1AchrXXq25Lymphoproliferative syndrome, X-linked, 1, 308240 (3), X-linked recessive
SH3PXD2Bchr55q35.1Frank-ter Haar syndrome, 249420 (3), Autosomal recessive
SH3TC2chr55q32Charcot-Marie-Tooth disease, type 4C, 601596 (3), Autosomal recessive; Mononeuropathy of the median nerve, mild, 613353 (3), Autosomal dominant
SHOXchrXXpter-p22.32Langer mesomelic dysplasia, 249700 (3), Pseudoautosomal recessive; Short stature, idiopathic familial, 300582 (3); Leri-Weill dyschondrosteosis, 127300 (3), Pseudoautosomal dominant
SHROOM4chrXXp11.2Stocco dos Santos X-linked mental retardation syndrome, 300434 (3), X-linked
SIchr33q25-q26Sucrase-isomaltase deficiency, congenital, 222900 (3), Autosomal recessive
SIGMAR1chr99p13?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3), Autosomal recessive; ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3), Autosomal recessive
SIK3chr1111q23.3?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3), Autosomal recessive
SIL1chr55q31Marinesco-Sjogren syndrome, 248800 (3), Autosomal recessive
SIX6chr1414q23Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3), Autosomal recessive
SKIV2Lchr66p21Trichohepatoenteric syndrome 2, 614602 (3), Autosomal recessive
SLC10A2chr1313q33Bile acid malabsorption, primary, 613291 (3), Autosomal recessive
SLC11A2chr1212q13Anemia, hypochromic microcytic, with iron overload 1, 206100 (3), Autosomal recessive
SLC12A1chr1515q15-q21.1Bartter syndrome, type 1, 601678 (3), Autosomal recessive
SLC12A3chr1616q13Gitelman syndrome, 263800 (3), Autosomal recessive
SLC12A5chr2020q12-q13.1Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive; {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3), Autosomal dominant
SLC12A6chr1515q13-q14Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3), Autosomal recessive
SLC13A5chr1717p13-p12Epileptic encephalopathy, early infantile, 25, 615905 (3), Autosomal recessive
SLC16A1chr11p13.2-p12Monocarboxylate transporter 1 deficiency, 616095 (3), Autosomal recessive, Autosomal dominant; Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3), Autosomal dominant; Erythrocyte lactate transporter defect, 245340 (3), Autosomal dominant
SLC16A2chrXXq13.2Allan-Herndon-Dudley syndrome, 300523 (3), X-linked
SLC17A5chr66q14-q15Sialic acid storage disorder, infantile, 269920 (3), Autosomal recessive; Salla disease, 604369 (3), Autosomal recessive
SLC19A2chr11q23.3Thiamine-responsive megaloblastic anemia syndrome, 249270 (3), Autosomal recessive
SLC19A3chr22q36.3Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3), Autosomal recessive
SLC1A1chr99p24{?Schizophrenia susceptibility 18}, 615232 (3); Dicarboxylic aminoaciduria, 222730 (3), Autosomal recessive
SLC22A12chr1111q13Hypouricemia, renal, 220150 (3), Autosomal recessive
SLC22A5chr55q31.1Carnitine deficiency, systemic primary, 212140 (3), Autosomal recessive
SLC24A1chr1515q22Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3), Autosomal recessive
SLC24A4chr1414q32[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3), Autosomal recessive; Amelogenesis imperfecta, type IIA5, 615887 (3), Autosomal recessive; [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3), Autosomal recessive
SLC24A5chr1515q21.1[Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3), Autosomal recessive; Albinism, oculocutaneous, type VI, 113750 (3), Autosomal recessive
SLC25A1chr2222q11Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3), Autosomal recessive; Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Autosomal recessive
SLC25A12chr22q24Epileptic encephalopathy, early infantile, 39, 612949 (3), Autosomal recessive
SLC25A13chr77q21.3Citrullinemia, adult-onset type II, 603471 (3), Autosomal recessive; Citrullinemia, type II, neonatal-onset, 605814 (3), Autosomal recessive
SLC25A15chr1313q14Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3), Autosomal recessive
SLC25A19chr1717q25.3Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3), Autosomal recessive; Microcephaly, Amish type, 607196 (3), Autosomal recessive
SLC25A20chr33p21.31Carnitine-acylcarnitine translocase deficiency, 212138 (3), Autosomal recessive
SLC25A21chr1414q11.2?Mitochondrial DNA depletion syndrome 18, 618811 (3), Autosomal recessive
SLC25A22chr1111p15.5Epileptic encephalopathy, early infantile, 3, 609304 (3), Autosomal recessive
SLC25A3chr33p22.1Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive
SLC25A38chr33p22.1Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3), Autosomal recessive
SLC25A4chr44q35Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3), Autosomal recessive; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3), Autosomal dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3), Autosomal dominant
SLC25A46chr55q22.1Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive
SLC26A1chr44p16.3?Nephrolithiasis, calcium oxalate, 167030 (3), Autosomal recessive
SLC26A2chr55q32-q33.1De la Chapelle dysplasia, 256050 (3), Autosomal recessive; Atelosteogenesis, type II, 256050 (3), Autosomal recessive; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3), Autosomal recessive; Diastrophic dysplasia, 222600 (3), Autosomal recessive; Achondrogenesis Ib, 600972 (3), Autosomal recessive; Epiphyseal dysplasia, multiple, 4, 226900 (3), Autosomal recessive
SLC26A3chr77q22-q31.1Diarrhea 1, secretory chloride, congenital, 214700 (3), Autosomal recessive
SLC26A4chr77q31Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3), Autosomal recessive; Pendred syndrome, 274600 (3), Autosomal recessive
SLC26A5chr77q22.1?Deafness, autosomal recessive 61, 613865 (3), Autosomal recessive
SLC27A4chr99q34Ichthyosis prematurity syndrome, 608649 (3)
SLC28A1chr1515q25-q26[Uridine-cytidineuria], 618477 (3), Autosomal recessive
SLC29A3chr1010q22.1Histiocytosis-lymphadenopathy plus syndrome, 602782 (3), Autosomal recessive
SLC2A1chr11p34.2Dystonia 9, 601042 (3), Autosomal dominant; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3), Autosomal recessive, Autosomal dominant; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3), Autosomal dominant; GLUT1 deficiency syndrome 2, childhood onset, 612126 (3), Autosomal dominant; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3), Autosomal dominant
SLC2A10chr2020q13.1Arterial tortuosity syndrome, 208050 (3), Autosomal recessive
SLC2A2chr33q26.1-q26.3Fanconi-Bickel syndrome, 227810 (3), Autosomal recessive; {Diabetes mellitus, noninsulin-dependent}, 125853 (3), Autosomal dominant
SLC2A9chr44p16-p15.3{Uric acid concentration, serum, QTL 2}, 612076 (3), Autosomal recessive, Autosomal dominant; Hypouricemia, renal, 2, 612076 (3), Autosomal recessive, Autosomal dominant
SLC30A10chr11q41Hypermanganesemia with dystonia 1, 613280 (3), Autosomal recessive
SLC33A1chr33q25.31Spastic paraplegia 42, autosomal dominant, 612539 (3), Autosomal dominant; Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3), Autosomal recessive
SLC34A1chr55q35Nephrolithiasis/ osteoporosis, hypophosphatemic, 1, 612286 (3), Autosomal dominant; Hypercalcemia, infantile, 2, 616963 (3), Autosomal recessive; ?Fanconi renotubular syndrome 2, 613388 (3), Autosomal recessive
SLC34A2chr44p15.31-p15.2Pulmonary alveolar microlithiasis, 265100 (3), Autosomal recessive
SLC34A3chr99q34Hypophosphatemic rickets with hypercalciuria, 241530 (3), Autosomal recessive
SLC35A1chr66q15Congenital disorder of glycosylation, type IIf, 603585 (3), Autosomal recessive
SLC35A3chr11p21?Arthrogryposis, mental retardation, and seizures, 615553 (3), Autosomal recessive
SLC35C1chr1111p11.2Congenital disorder of glycosylation, type IIc, 266265 (3), Autosomal recessive
SLC35D1chr11p32-p31Schneckenbecken dysplasia, 269250 (3), Autosomal recessive
SLC36A2chr55q33.1Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant
SLC37A4chr1111q23Glycogen storage disease Ic, 232240 (3), Autosomal recessive; Glycogen storage disease Ib, 232220 (3), Autosomal recessive
SLC38A8chr1616q23.3Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3), Autosomal recessive
SLC39A13chr1111p11.2Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3), Autosomal recessive
SLC39A4chr88q24.3Acrodermatitis enteropathica, 201100 (3), Autosomal recessive
SLC3A1chr22p16.3Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant
SLC45A2chr55p13.3[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3), Autosomal recessive; Albinism, oculocutaneous, type IV, 606574 (3), Autosomal recessive; [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3), Autosomal recessive
SLC46A1chr1717q11.1Folate malabsorption, hereditary, 229050 (3), Autosomal recessive
SLC4A1chr1717q21-q22Renal tubular acidosis, distal, AD, 179800 (3), Autosomal dominant; [Blood group, Swann], 601550 (3); [Blood group, Froese], 601551 (3); [Blood group, Waldner], 112010 (3); Renal tubular acidosis, distal, AR, 611590 (3), Autosomal recessive; Spherocytosis, type 4, 612653 (3), Autosomal dominant; Cryohydrocytosis, 185020 (3), Autosomal dominant; Ovalocytosis, SA type, 166900 (3), Autosomal dominant; [Malaria, resistance to], 611162 (3); [Blood group, Diego], 110500 (3); [Blood group, Wright], 112050 (3)
SLC4A11chr2020p13-p12Corneal endothelial dystrophy, autosomal recessive, 217700 (3), Autosomal recessive; Corneal dystrophy, Fuchs endothelial, 4, 613268 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3), Autosomal recessive
SLC4A4chr44q21Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3), Autosomal recessive
SLC52A2chr88q24.3Brown-Vialetto-Van Laere syndrome 2, 614707 (3), Autosomal recessive
SLC52A3chr2020p13Brown-Vialetto-Van Laere syndrome 1, 211530 (3), Autosomal recessive; ?Fazio-Londe disease, 211500 (3), Autosomal recessive
SLC5A1chr2222q13.1Glucose/galactose malabsorption, 606824 (3), Autosomal recessive
SLC5A2chr1616p11.2Renal glucosuria, 233100 (3), Autosomal recessive, Autosomal dominant
SLC5A5chr1919p13.2-p12Thyroid dyshormonogenesis 1, 274400 (3), Autosomal recessive
SLC5A7chr22q12.3Neuronopathy, distal hereditary motor, type VIIA, 158580 (3), Autosomal dominant; Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive
SLC6A17chr11p13.3Mental retardation, autosomal recessive 48, 616269 (3), Autosomal recessive
SLC6A19chr55p15.33Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hartnup disorder, 234500 (3), Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant
SLC6A20chr33p21.3Iminoglycinuria, digenic, 242600 (3), Digenic recessive, Autosomal recessive; Hyperglycinuria, 138500 (3), Autosomal dominant
SLC6A3chr55p15.3{Nicotine dependence, protection against}, 188890 (3); Parkinsonism-dystonia, infantile, 1, 613135 (3), Autosomal recessive
SLC6A5chr1111p15.2-p15.1Hyperekplexia 3, 614618 (3), Autosomal recessive, Autosomal dominant
SLC6A8chrXXq28Cerebral creatine deficiency syndrome 1, 300352 (3), X-linked recessive
SLC6A9chr11p33Glycine encephalopathy with normal serum glycine, 617301 (3), Autosomal recessive
SLC7A14chr33q26.2Retinitis pigmentosa 68, 615725 (3), Autosomal recessive
SLC7A7chr1414q11.2Lysinuric protein intolerance, 222700 (3), Autosomal recessive
SLC7A9chr1919q13.1Cystinuria, 220100 (3), Autosomal recessive, Autosomal dominant
SLC9A1chr11p36.1-p35?Lichtenstein-Knorr syndrome, 616291 (3), Autosomal recessive
SLC9A3chr55p15.3Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
SLC9A6chrXXq26.3Mental retardation, X-linked syndromic, Christianson type, 300243 (3), X-linked dominant
SLCO1B1chr1212p12Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive
SLCO1B3chr1212p12.2Hyperbilirubinemia, Rotor type, digenic, 237450 (3), Digenic recessive
SLCO2A1chr33q21Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3), Autosomal recessive
SLITRK6chr1313q31Deafness and myopia, 221200 (3), Autosomal recessive
SLURP1chr88qterMeleda disease, 248300 (3), Autosomal recessive
SLX4chr1616p13.3Fanconi anemia, complementation group P, 613951 (3), Autosomal recessive
SMARCAL1chr22q34-q36Schimke immunoosseous dysplasia, 242900 (3), Autosomal recessive
SMIM1chr11p36[Blood group, Vel system], 615264 (3), Autosomal recessive
SMN1chr55q12.2-q13.3Spinal muscular atrophy-2, 253550 (3), Autosomal recessive; Spinal muscular atrophy-3, 253400 (3), Autosomal recessive; Spinal muscular atrophy-1, 253300 (3), Autosomal recessive; Spinal muscular atrophy-4, 271150 (3), Autosomal recessive
SMN2chr55q12.2-q13.3{Spinal muscular atrophy, type III, modifier of}, 253400 (3), Autosomal recessive
SMOchr77q31-q32Curry-Jones syndrome, somatic mosaic, 601707 (3); Pallister-Hall-like syndrome, 241800 (3), Autosomal recessive; Basal cell carcinoma, somatic, 605462 (3)
SMOC1chr1414q24.1Microphthalmia with limb anomalies, 206920 (3), Autosomal recessive
SMOC2chr66q27Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3), Autosomal recessive
SMPD1chr1111p15.4-p15.1Niemann-Pick disease, type A, 257200 (3), Autosomal recessive; Niemann-Pick disease, type B, 607616 (3), Autosomal recessive
SMPXchrXXp22.1Deafness, X-linked 4, 300066 (3), X-linked dominant
SMSchrXXp22.1Mental retardation, X-linked, Snyder-Robinson type, 309583 (3), X-linked recessive
SNAI2chr88q11Waardenburg syndrome, type 2D, 608890 (3), Autosomal recessive; Piebaldism, 172800 (3), Autosomal dominant
SNAP29chr2222q11.2Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3), Autosomal recessive
SNIP1chr11p34.3Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3), Autosomal recessive
SNX10chr77p15.2Osteopetrosis, autosomal recessive 8, 615085 (3), Autosomal recessive
SNX14chr66q14.3Spinocerebellar ataxia, autosomal recessive 20, 616354 (3), Autosomal recessive
SOBPchr66q21Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3), Autosomal recessive
SOD1chr2121q22.1Spastic tetraplegia and axial hypotonia, progressive, 618598 (3), Autosomal recessive; Amyotrophic lateral sclerosis 1, 105400 (3), Autosomal recessive, Autosomal dominant
SOHLH1chr99q34.3Ovarian dysgenesis 5, 617690 (3), Autosomal recessive; Spermatogenic failure 32, 618115 (3), Autosomal dominant
SORDchr1515q15.3Sorbitol dehydrogenase deficiency with peripheral neuropathy, 618912 (3), Autosomal recessive
SOSTchr1717q12-q21Sclerosteosis 1, 269500 (3), Autosomal recessive; Van Buchem disease, 239100 (3), Autosomal recessive; Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3), Autosomal dominant
SOX18chr2020q13.33Hypotrichosis- lymphedema-telangiectasia-renal defect syndrome, 137940 (3), Autosomal dominant; Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3), Autosomal recessive
SOX3chrXXq26.3Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3), X-linked
SP110chr22q37.1{Mycobacterium tuberculosis, susceptibility to}, 607948 (3); Hepatic venoocclusive disease with immunodeficiency, 235550 (3), Autosomal recessive
SP7chr1212q13.13Osteogenesis imperfecta, type XII, 613849 (3), Autosomal recessive
SPAG1chr88q22Ciliary dyskinesia, primary, 28, 615505 (3), Autosomal recessive
SPARTchr1313q12.3Troyer syndrome, 275900 (3), Autosomal recessive
SPATA16chr33q26.3?Spermatogenic failure 6, 102530 (3), Autosomal recessive
SPATA5L1chr1515q21.1 Deafness, autosomal recessive 119
SPATA7chr1414q31.3Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3); Leber congenital amaurosis 3, 604232 (3)
SPEF2chr55p13.2Spermatogenic failure 43, 618751 (3), Autosomal recessive
SPEGchr22q35Centronuclear myopathy 5, 615959 (3), Autosomal recessive
SPG11chr1515q21.1Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3), Autosomal recessive; Spastic paraplegia 11, autosomal recessive, 604360 (3), Autosomal recessive; Amyotrophic lateral sclerosis 5, juvenile, 602099 (3), Autosomal recessive
SPG21chr1515q21-q22Mast syndrome, 248900 (3), Autosomal recessive
SPG7chr1616q24.3Spastic paraplegia 7, autosomal recessive, 607259 (3), Autosomal recessive, Autosomal dominant
SPINK1chr55q32{Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3), Autosomal recessive, Autosomal dominant; Pancreatitis, hereditary, 167800 (3), Autosomal dominant; Tropical calcific pancreatitis, 608189 (3), Autosomal recessive, Autosomal dominant
SPINK5chr55q32Netherton syndrome, 256500 (3), Autosomal recessive
SPINT2chr1919q13.1Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3), Autosomal recessive
SPRchr22p14-p12Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3), ?Autosomal dominant, Autosomal recessive
SPRTNchr11q42.2Ruijs-Aalfs syndrome, 616200 (3), Autosomal recessive
SPTA1chr11q21Pyropoikilocytosis, 266140 (3), Autosomal recessive; Elliptocytosis-2, 130600 (3), Autosomal dominant; Spherocytosis, type 3, 270970 (3), Autosomal recessive
SPTBN2chr1111q13Spinocerebellar ataxia, autosomal recessive 14, 615386 (3), Autosomal recessive; Spinocerebellar ataxia 5, 600224 (3), Autosomal dominant
SQSTM1chr55q35Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3), Autosomal dominant; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive; Myopathy, distal, with rimmed vacuoles, 617158 (3), Autosomal dominant; Paget disease of bone 3, 167250 (3), Autosomal dominant
SRD5A2chr22p23Pseudovaginal perineoscrotal hypospadias, 264600 (3), Autosomal recessive
SRD5A3chr44q12Kahrizi syndrome, 612713 (3), Autosomal recessive; Congenital disorder of glycosylation, type Iq, 612379 (3), Autosomal recessive
SSR4chrXXq28Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive
ST14chr1111q24-q25Ichthyosis, congenital, autosomal recessive 11, 602400 (3), Autosomal recessive
ST3GAL3chr11p34.1Mental retardation, autosomal recessive 12, 611090 (3), Autosomal recessive; ?Epileptic encephalopathy, early infantile, 15, 615006 (3), Autosomal recessive
ST3GAL5chr22p11.2Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
STAC3chr1212q13.3Myopathy, congenital, Baily-Bloch, 255995 (3), Autosomal recessive
STAG2chrXXq25Mullegama-Klein-Martinez syndrome, 301022 (3), X-linked; Holoprosencephaly 13, X-linked, 301043 (3), X-linked dominant, X-linked recessive
STAG3chr77q22Premature ovarian failure 8, 615723 (3), Autosomal recessive
STAMBPchr22p13.1Microcephaly-capillary malformation syndrome, 614261 (3), Autosomal recessive
STARchr88p11.2Lipoid adrenal hyperplasia, 201710 (3), Autosomal recessive
STAT1chr22q32.2-q32.3Immunodeficiency 31C, autosomal dominant, 614162 (3), Autosomal dominant; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3), Autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3), Autosomal recessive
STAT2chr1212q13.2Immunodeficiency 44, 616636 (3), Autosomal recessive; Pseudo-TORCH syndrome 3, 618886 (3), Autosomal recessive
STAT5Bchr1717q11.2Leukemia, acute promyelocytic, somatic, 102578 (3); Growth hormone insensitivity with immunodeficiency, 245590 (3)
STILchr11p33Microcephaly 7, primary, autosomal recessive, 612703 (3), Autosomal recessive
STIM1chr1111p15.5Myopathy, tubular aggregate, 1, 160565 (3), Autosomal dominant; Immunodeficiency 10, 612783 (3), Autosomal recessive; Stormorken syndrome, 185070 (3), Autosomal dominant
STRA6chr1515q24.1Microphthalmia, isolated, with coloboma 8, 601186 (3), Autosomal recessive; Microphthalmia, syndromic 9, 601186 (3), Autosomal recessive
STRADAchr1717q23.3Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive
STRCchr1515q15Deafness, autosomal recessive 16, 603720 (3), Autosomal recessive
STSchrXXp22.32Ichthyosis, X-linked, 308100 (3), X-linked recessive
STT3Achr1111q23.3?Congenital disorder of glycosylation, type Iw, 615596 (3), Autosomal recessive
STT3Bchr33p23?Congenital disorder of glycosylation, type Ix, 615597 (3), Autosomal recessive
STUB1chr1616p13.3Spinocerebellar ataxia, autosomal recessive 16, 615768 (3), Autosomal recessive; ?Spinocerebellar ataxia 48, 618093 (3), Autosomal dominant
STX11chr66q24Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3), Autosomal recessive
STXBP2chr1919p13.3-p13.2Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SUCLA2chr1313q14.2Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3), Autosomal recessive
SUCLG1chr22p11.2Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3), Autosomal recessive
SUFUchr1010q24-q25Basal cell nevus syndrome, 109400 (3), Autosomal dominant; Medulloblastoma, desmoplastic, 155255 (3), Somatic mutation, Autosomal recessive, Autosomal dominant; {Meningioma, familial, susceptibility to}, 607174 (3), Autosomal dominant; Joubert syndrome 32, 617757 (3), Autosomal recessive
SUGCTchr77p14Glutaric aciduria III, 231690 (3), Autosomal recessive
SULT2B1chr1919q13.3Ichthyosis, congenital, autosomal recessive 14, 617571 (3), Autosomal recessive
SUMF1chr33p26Multiple sulfatase deficiency, 272200 (3), Autosomal recessive
SUOXchr12Chr.12Sulfite oxidase deficiency, 272300 (3), Autosomal recessive
SURF1chr99q34Leigh syndrome, due to COX IV deficiency, 256000 (3), Mitochondrial, Autosomal recessive; Charcot-Marie-Tooth disease, type 4K, 616684 (3), Autosomal recessive
SYN1chrXXp11.4-p11.2Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3), X-linked dominant, X-linked recessive
SYNE1chr66q25Arthrogryposis multiplex congenita 3, myogenic type, 618484 (3), Autosomal recessive; Spinocerebellar ataxia, autosomal recessive 8, 610743 (3), Autosomal recessive; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3), Autosomal dominant
SYNE4chr1919q13.12Deafness, autosomal recessive 76, 615540 (3), Autosomal recessive
SYNJ1chr2121q22.2Epileptic encephalopathy, early infantile, 53, 617389 (3), Autosomal recessive; Parkinson disease 20, early-onset, 615530 (3), Autosomal recessive
SYPchrXXp11.23-p11.22Mental retardation, X-linked 96, 300802 (3), X-linked recessive
SYT14chr11q32.2?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3), Autosomal recessive
SZT2chr11p34.2Epileptic encephalopathy, early infantile, 18, 615476 (3), Autosomal recessive
TAC3chr1212q13-q21Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3), Autosomal recessive
TACO1chr1717q22-q24.2Mitochondrial complex IV deficiency, 220110 (3), Mitochondrial, Autosomal recessive
TACR3chr44q25Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3), Autosomal recessive
TACSTD2chr11p32Corneal dystrophy, gelatinous drop-like, 204870 (3), Autosomal recessive
TAF1chrXXq13Dystonia-Parkinsonism, X-linked, 314250 (3), X-linked recessive; Mental retardation, X-linked, syndromic 33, 300966 (3), X-linked recessive
TAF2chr88q24.12Mental retardation, autosomal recessive 40, 615599 (3), Autosomal recessive
TAF4Bchr1818q11.2?Spermatogenic failure 13, 615841 (3), Autosomal recessive
TAF6chr77q22.1Alazami-Yuan syndrome, 617126 (3), Autosomal recessive
TALDO1chr1111p15.5-p15.4Transaldolase deficiency, 606003 (3), Autosomal recessive
TAP1chr66p21.3Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive
TAP2chr66p21.3Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3), Autosomal recessive
TAPBPchr66p21.3Bare lymphocyte syndrome, type I, 604571 (3), Autosomal recessive
TARS2chr11q21.2?Combined oxidative phosphorylation deficiency 21, 615918 (3), Autosomal recessive
TATchr1616q22.1-q22.3Tyrosinemia, type II, 276600 (3), Autosomal recessive
TAZchrXXq28Barth syndrome, 302060 (3), X-linked recessive
TBC1D20chr2020p13Warburg micro syndrome 4, 615663 (3), Autosomal recessive
TBC1D23chr33q12.1-q12.2Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
TBC1D24chr1616p13.3Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105 (3), Autosomal recessive; DOORS syndrome, 220500 (3), Autosomal recessive; Deafness, autosomal dominant 65, 616044 (3), Autosomal dominant; Epileptic encephalopathy, early infantile, 16, 615338 (3), Autosomal recessive; Myoclonic epilepsy, infantile, familial, 605021 (3), Autosomal recessive; Deafness , autosomal recessive 86, 614617 (3), Autosomal recessive
TBC1D7chr66p24.1Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3), Autosomal recessive
TBCEchr11q42-q43Kenny-Caffey syndrome, type 1, 244460 (3), Autosomal recessive; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3), Autosomal recessive; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3), Autosomal recessive
TBCKchr44q24Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive
TBX15chr11p13Cousin syndrome, 260660 (3), Autosomal recessive
TBX19chr11q23-q24Adrenocorticotropic hormone deficiency, 201400 (3), Autosomal recessive
TBX21chr1717q21.3{Asthma, aspirin-induced, susceptibility to}, 208550 (3), Autosomal recessive; Asthma and nasal polyps, 208550 (3), Autosomal recessive
TBX4chr1717q21-q22Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, 601360 (3), Autosomal recessive; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 (3), Autosomal dominant
TBX6chr1616p11.2Spondylocostal dysostosis 5, 122600 (3), Autosomal recessive, Autosomal dominant
TBXAS1chr77q34Ghosal hematodiaphyseal syndrome, 231095 (3), Autosomal recessive
TCAPchr1717q12Cardiomyopathy, hypertrophic, 25, 607487 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3), Autosomal recessive
TCF4chr1818q21.2Corneal dystrophy, Fuchs endothelial, 3, 613267 (3), Autosomal dominant; Pitt-Hopkins syndrome, 610954 (3), Autosomal dominant
TCIRG1chr1111q13.4-q13.5Osteopetrosis, autosomal recessive 1, 259700 (3), Autosomal recessive
TCN2chr2222q11.2-qterTranscobalamin II deficiency, 275350 (3), Autosomal recessive
TCTN1chr1212q24.1Joubert syndrome 13, 614173 (3), Autosomal recessive
TCTN2chr1212q24.31Joubert syndrome 24, 616654 (3), Autosomal recessive; ?Meckel syndrome 8, 613885 (3), Autosomal recessive
TCTN3chr1010q24.1Orofaciodigital syndrome IV, 258860 (3), Autosomal recessive; Joubert syndrome 18, 614815 (3), Autosomal recessive
TDO2chr44q31-q32[?Hypertryptophanemia], 600627 (3), Autosomal recessive
TDP1chr1414q31-q32?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, 607250 (3), Autosomal recessive
TDP2chr66p22.3-p22.1Spinocerebellar ataxia, autosomal recessive 23, 616949 (3), Autosomal recessive
TDRD7chr99q22.33Cataract 36, 613887 (3), Autosomal recessive
TECPR2chr1414q32.31Spastic paraplegia 49, autosomal recessive, 615031 (3), Autosomal recessive
TECRchr1919p13.12Mental retardation, autosomal recessive 14, 614020 (3), Autosomal recessive
TECTAchr1111q22-q24Deafness, autosomal dominant 8/12, 601543 (3), Autosomal dominant; Deafness, autosomal recessive 21, 603629 (3), Autosomal recessive
TELO2chr1616p13.3You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
TENM3chr44q35.1Microphthalmia, syndromic 15, 615145 (3), Autosomal recessive; ?Microphthalmia, isolated, with coloboma 9, 615145 (3), Autosomal recessive
TERTchr55p15.33{Melanoma, cutaneous malignant, 9}, 615134 (3); {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3), Autosomal dominant; {Leukemia, acute myeloid}, 601626 (3), Somatic mutation, Autosomal dominant; {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3), Autosomal recessive, Autosomal dominant; {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3), Autosomal recessive, Autosomal dominant
TEX14chr1717q22Spermatogenic failure 23, 617707 (3), Autosomal recessive
TFchr33q21Atransferrinemia, 209300 (3), Autosomal recessive
TFAMchr1010q21?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3), Autosomal recessive
TFGchr33q11-q12?Spastic paraplegia 57, autosomal recessive, 615658 (3), Autosomal recessive; Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3), Autosomal dominant
TFR2chr77q22Hemochromatosis, type 3, 604250 (3), Autosomal recessive
TFRCchr33q29Immunodeficiency 46, 616740 (3), Autosomal recessive
TGchr88q24.2-q24.3{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3); Thyroid dyshormonogenesis 3, 274700 (3), Autosomal recessive
TGDSchr1313q32.1Catel-Manzke syndrome, 616145 (3), Autosomal recessive
TGFB1chr1919q13.1{Cystic fibrosis lung disease, modifier of}, 219700 (3), Autosomal recessive; Camurati-Engelmann disease, 131300 (3), Autosomal dominant; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3), Autosomal recessive
TGM1chr1414q11.2Ichthyosis, congenital, autosomal recessive 1, 242300 (3), Autosomal recessive
TGM5chr1515q15.2Peeling skin syndrome 2, 609796 (3), Autosomal recessive
THchr1111p15.5Segawa syndrome, recessive, 605407 (3), Autosomal recessive
THOC2chrXXq25Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
THOC6chr1616p13.3Beaulieu-Boycott-Innes syndrome, 613680 (3), Autosomal recessive
THRBchr33p24.3Thyroid hormone resistance, 188570 (3), Autosomal dominant; Thyroid hormone resistance, selective pituitary, 145650 (3), Autosomal dominant; Thyroid hormone resistance, autosomal recessive, 274300 (3), Autosomal recessive
TIA1chr22p13Welander distal myopathy, 604454 (3), Autosomal recessive, Autosomal dominant
TICAM1chr1919p13.3{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3), Autosomal recessive, Autosomal dominant
TIMM8AchrXXq22Mohr-Tranebjaerg syndrome, 304700 (3), X-linked recessive
TJP2chr99q12-q13Cholestasis, progressive familial intrahepatic 4, 615878 (3), Autosomal recessive; Hypercholanemia, familial, 607748 (3), Autosomal recessive
TK2chr1616q22Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3), Autosomal recessive
TLE6chr1919p13.3Preimplantation embryonic lethality, 616814 (3), Autosomal recessive
TLR3chr44q35{HIV1 infection, resistance to}, 609423 (3); {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3), Autosomal recessive, Autosomal dominant
TMC1chr99q13-q21Deafness, autosomal recessive 7, 600974 (3), Autosomal recessive; Deafness, autosomal dominant 36, 606705 (3), Autosomal dominant
TMC6chr1717q25Epidermodysplasia verruciformis, 226400 (3), Autosomal recessive
TMC8chr1717q25Epidermodysplasia verruciformis 2, 618231 (3), Autosomal recessive
TMCO1chr11q24.1Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3), Autosomal recessive
TMEM126Achr1111q14.1-q21Optic atrophy 7, 612989 (3), Autosomal recessive
TMEM138chr1111q12.2Joubert syndrome 16, 614465 (3), Autosomal recessive
TMEM165chr44q12Congenital disorder of glycosylation, type IIk, 614727 (3), Autosomal recessive
TMEM216chr1111q12.2Meckel syndrome 2, 603194 (3), Autosomal recessive; Joubert syndrome 2, 608091 (3), Autosomal recessive
TMEM231chr1616q23.1Meckel syndrome 11, 615397 (3), Autosomal recessive; Joubert syndrome 20, 614970 (3), Autosomal recessive
TMEM237chr22q33.2Joubert syndrome 14, 614424 (3), Autosomal recessive
TMEM67chr88q21.13-q22.1Meckel syndrome 3, 607361 (3), Autosomal recessive; ?RHYNS syndrome, 602152 (3), Autosomal recessive; Nephronophthisis 11, 613550 (3), Autosomal recessive; {Bardet-Biedl syndrome 14, modifier of}, 615991 (3), Autosomal recessive; COACH syndrome, 216360 (3), Autosomal recessive; Joubert syndrome 6, 610688 (3), Autosomal recessive
TMEM70chr88q21.11Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3), Autosomal recessive
TMIEchr33p21Deafness, autosomal recessive 6, 600971 (3), Autosomal recessive
TMLHEchrXXq28{Autism, susceptibility to, X-linked 6}, 300872 (3), X-linked recessive
TMPRSS15chr2121q21Enterokinase deficiency, 226200 (3), Autosomal recessive
TMPRSS3chr2121q22.3Deafness, autosomal recessive 8/10, 601072 (3), Autosomal recessive
TMPRSS6chr2222q12-q13Iron-refractory iron deficiency anemia, 206200 (3), Autosomal recessive
TMTC3chr1212q21.32Lissencephaly 8, 617255 (3), Autosomal recessive
TNFRSF10Bchr88p22-p21Squamous cell carcinoma, head and neck, 275355 (3), Autosomal recessive
TNFRSF11Achr1818q22.1Osteolysis, familial expansile, 174810 (3), Autosomal dominant; {Paget disease of bone 2, early-onset}, 602080 (3), Autosomal dominant; Osteopetrosis, autosomal recessive 7, 612301 (3), Autosomal recessive
TNFRSF11Bchr88q24Paget disease of bone 5, juvenile-onset, 239000 (3), Autosomal recessive
TNFRSF13Bchr1717p11.2Immunoglobulin A deficiency 2, 609529 (3); Immunodeficiency, common variable, 2, 240500 (3), Autosomal recessive, Autosomal dominant
TNFRSF13Cchr2222q13.1-q13.31Immunodeficiency, common variable, 4, 613494 (3), Autosomal recessive
TNFRSF4chr11p36?Immunodeficiency 16, 615593 (3), Autosomal recessive
TNFSF11chr1313q14Osteopetrosis, autosomal recessive 2, 259710 (3), Autosomal recessive
TNNI3chr1919q13.4Cardiomyopathy, hypertrophic, 7, 613690 (3), Autosomal dominant; ?Cardiomyopathy, dilated, 2A, 611880 (3), Autosomal recessive; Cardiomyopathy, dilated, 1FF, 613286 (3); Cardiomyopathy, familial restrictive, 1, 115210 (3), Autosomal dominant
TNNT1chr1919q13.4Nemaline myopathy 5, Amish type, 605355 (3), Autosomal recessive
TNXBchr66p21.3Ehlers-Danlos syndrome, classic-like, 1, 606408 (3), Autosomal recessive; Vesicoureteral reflux 8, 615963 (3), Autosomal dominant
TOP3Achr1717p12-p11.2Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3), Autosomal recessive; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3), Autosomal recessive
TOR1AIP1chr11q24?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3), Autosomal recessive
TP53RKchr2020q13.12Galloway-Mowat syndrome 4, 617730 (3), Autosomal recessive
TPI1chr1212p13Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3), Autosomal recessive
TPK1chr77q34Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3), Autosomal recessive
TPM3chr11q22-q23CAP myopathy 1, 609284 (3), Autosomal recessive, Autosomal dominant; Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with fiber-type disproportion, 255310 (3), Autosomal recessive, Autosomal dominant
TPMTchr66p22.3{Thiopurines, poor metabolism of, 1}, 610460 (3), Autosomal recessive
TPOchr22p25Thyroid dyshormonogenesis 2A, 274500 (3), Autosomal recessive
TPP1chr1111p15.5Spinocerebellar ataxia, autosomal recessive 7, 609270 (3), Autosomal recessive; Ceroid lipofuscinosis, neuronal, 2, 204500 (3), Autosomal recessive
TPRNchr99q34.3Deafness, autosomal recessive 79, 613307 (3), Autosomal recessive
TRACchr1414q11.2Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3), Autosomal recessive
TRAF3IP1chr22q37.3Senior-Loken syndrome 9, 616629 (3), Autosomal recessive
TRAF3IP2chr66q21?Candidiasis, familial, 8, 615527 (3), Autosomal recessive; {Psoriasis susceptibility 13}, 614070 (3)
TRAK1chr33p25.3-p24.1Epileptic encephalopathy, early infantile, 68, 618201 (3), Autosomal recessive
TRAPPC11chr44q35.1Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3), Autosomal recessive
TRAPPC2chrXXp22.2-p22.1Spondyloepiphyseal dysplasia tarda, 313400 (3), X-linked recessive
TRAPPC9chr88q24.3Mental retardation, autosomal recessive 13, 613192 (3), Autosomal recessive
TRDNchr66q22-q23Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3), Autosomal recessive
TREHchr1111q23Trehalase deficiency, 612119 (3), Autosomal recessive
TREM2chr66p21.2Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 (3), Autosomal dominant
TREX1chr33p21.3-p21.2{Systemic lupus erythematosus, susceptibility to}, 152700 (3), Autosomal dominant; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3), Autosomal dominant; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3), Autosomal recessive, Autosomal dominant; Chilblain lupus, 610448 (3), Autosomal dominant
TRHchr33q13.3-q21Thyrotropin-releasing hormone deficiency, 275120 (1), Autosomal recessive
TRHRchr88q23Hypothyroidism, congenital, nongoitrous, 7, 618573 (3), Autosomal recessive
TRIM2chr44q31.3Charcot-Marie-Tooth disease, type 2R, 615490 (3), Autosomal recessive
TRIM32chr99q31-q34.1?Bardet-Biedl syndrome 11, 615988 (3), Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3), Autosomal recessive
TRIM37chr1717q22-q23Mulibrey nanism, 253250 (3), Autosomal recessive
TRIOBPchr2222q13.1Deafness, autosomal recessive 28, 609823 (3), Autosomal recessive
TRIP11chr1414q31-q32Osteochondrodysplasia, 184260 (3), Autosomal recessive; Achondrogenesis, type IA, 200600 (3), Autosomal recessive
TRIP13chr55p15.33Mosaic variegated aneuploidy syndrome 3, 617598 (3), Autosomal recessive
TRIT1chr11p34.2Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive
TRMT1chr1919p13.3Mental retardation, autosomal recessive 68, 618302 (3), Autosomal recessive
TRMT10Achr44q23Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3), Autosomal recessive
TRMUchr2222q13Liver failure, transient infantile, 613070 (3), Autosomal recessive; {Deafness, mitochondrial, modifier of}, 580000 (3), Mitochondrial
TRNT1chr33p25.1Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3), Autosomal recessive; Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3), Autosomal recessive
TRPM1chr1515q13-q14Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TRPM6chr99q22Hypomagnesemia 1, intestinal, 602014 (3), Autosomal recessive
TSEN15chr11q25Pontocerebellar hypoplasia, type 2F, 617026 (3), Autosomal recessive
TSEN2chr33p25.1Pontocerebellar hypoplasia type 2B, 612389 (3), Autosomal recessive
TSEN34chr1919q13.4?Pontocerebellar hypoplasia type 2C, 612390 (3), Autosomal recessive
TSEN54chr1717q25.1Pontocerebellar hypoplasia type 4, 225753 (3), Autosomal recessive; Pontocerebellar hypoplasia type 2A, 277470 (3), Autosomal recessive; ?Pontocerebellar hypoplasia type 5, 610204 (3), Autosomal recessive
TSFMchr1212q13-q14Combined oxidative phosphorylation deficiency 3, 610505 (3), Autosomal recessive
TSHBchr11p13Hypothyroidism, congenital, nongoitrous 4, 275100 (3), Autosomal recessive
TSHRchr1414q31Thyroid adenoma, hyperfunctioning, somatic (3); Thyroid carcinoma with thyrotoxicosis (3); Hyperthyroidism, nonautoimmune, 609152 (3), Autosomal dominant; Hypothyroidism, congenital, nongoitrous, 1, 275200 (3), Autosomal recessive; Hyperthyroidism, familial gestational, 603373 (3)
TSPAN7chrXXq11Mental retardation, X-linked 58, 300210 (3), X-linked recessive
TSPEARchr2121q22.3Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3), Autosomal recessive; ?Deafness, autosomal recessive 98, 614861 (3), Autosomal recessive
TSPYL1chr66q22-q23Sudden infant death with dysgenesis of the testes syndrome, 608800 (3), Autosomal recessive
TSR2chrXXp11.22?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3), X-linked recessive
TTC19chr1717p12Mitochondrial complex III deficiency, nuclear type 2, 615157 (3), Autosomal recessive
TTC21Bchr22q24.3Nephronophthisis 12, 613820 (3), Autosomal recessive, Autosomal dominant; Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3), Autosomal recessive
TTC37chr55q15Trichohepatoenteric syndrome 1, 222470 (3), Autosomal recessive
TTC7Achr22p21Gastrointestinal defects and immunodeficiency syndrome, 243150 (3), Autosomal recessive
TTC8chr1414q32.1Bardet-Biedl syndrome 8, 615985 (3), Autosomal recessive; ?Retinitis pigmentosa 51, 613464 (3), Autosomal recessive
TTI2chr88p12Mental retardation, autosomal recessive 39, 615541 (3), Autosomal recessive
TTLL5chr1414q24.3Cone-rod dystrophy 19, 615860 (3), Autosomal recessive
TTNchr22q31Myopathy, myofibrillar, 9, with early respiratory failure, 603689 (3), Autosomal dominant; Cardiomyopathy, familial hypertrophic, 9, 613765 (3), Autosomal dominant; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3), Autosomal recessive; Cardiomyopathy, dilated, 1G, 604145 (3); Tibial muscular dystrophy, tardive, 600334 (3), Autosomal dominant; Salih myopathy, 611705 (3), Autosomal recessive
TTPAchr88q13.1-q13.3Ataxia with isolated vitamin E deficiency, 277460 (3), Autosomal recessive
TUBchr1111p15.4?Retinal dystrophy and obesity, 616188 (3), Autosomal recessive
TUBA1Achr1212q12-q14Lissencephaly 3, 611603 (3), Autosomal dominant
TUBA8chr2222q11Cortical dysplasia, complex, with other brain malformations 8, 613180 (3), Autosomal recessive
TUBGCP4chr1515q15Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3), Autosomal recessive
TUBGCP6chr2222q13.33Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3), Autosomal recessive
TUFMchr1616p11.2Combined oxidative phosphorylation deficiency 4, 610678 (3), Autosomal recessive
TULP1chr66p21.3Retinitis pigmentosa 14, 600132 (3), Autosomal recessive; Leber congenital amaurosis 15, 613843 (3), Autosomal recessive
TUSC3chr88p22Mental retardation, autosomal recessive 7, 611093 (3), Autosomal recessive
TWIST2chr22q37.3Focal facial dermal dysplasia 3, Setleis type, 227260 (3), Autosomal recessive; Ablepharon-macrostomia syndrome, 200110 (3), Autosomal dominant; Barber-Say syndrome, 209885 (3), Autosomal dominant
TWNKchr1010q24Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3), Autosomal recessive; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3), Autosomal dominant; Perrault syndrome 5, 616138 (3), Autosomal recessive
TXN2chr2222q12.3?Combined oxidative phosphorylation deficiency 29, 616811 (3), Autosomal recessive
TXNL4Achr1818q23Burn-McKeown syndrome, 608572 (3), Autosomal recessive
TXNRD2chr2222q11.2?Glucocorticoid deficiency 5, 617825 (3), Autosomal recessive
TYK2chr1919p13.2Immunodeficiency 35, 611521 (3), Autosomal recessive
TYMPchr2222q13.32-qterMitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3), Autosomal recessive
TYRchr1111q14-q21Waardenburg syndrome/albinism, digenic, 103470 (3); Albinism, oculocutaneous, type IB, 606952 (3), Autosomal recessive; [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3), Autosomal dominant; {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3), Autosomal dominant; Albinism, oculocutaneous, type IA, 203100 (3), Autosomal recessive; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3), Autosomal dominant
TYROBPchr1919q13.1Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3), Autosomal recessive
TYRP1chr99p23[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3); Albinism, oculocutaneous, type III, 203290 (3), Autosomal recessive
UBA1chrXXp11.23Spinal muscular atrophy, X-linked 2, infantile, 301830 (3), X-linked recessive
UBE2AchrXXq24Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3), X-linked recessive
UBE2Tchr11q31Fanconi anemia, complementation group T, 616435 (3), Autosomal recessive
UBE3Achr1515q11-q13Angelman syndrome, 105830 (3), Autosomal dominant
UBE3Bchr1212q24.11Kaufman oculocerebrofacial syndrome, 244450 (3), Autosomal recessive
UBR1chr1515q15-q21.1Johanson-Blizzard syndrome, 243800 (3), Autosomal recessive
UCHL1chr44p14Spastic paraplegia 79, autosomal recessive, 615491 (3), Autosomal recessive; {?Parkinson disease 5, susceptibility to}, 613643 (3), Autosomal dominant
UCP3chr1111q13{Obesity, severe, and type II diabetes}, 601665 (3), Multifactorial, Autosomal recessive, Autosomal dominant
UGT1A1chr22q37[Gilbert syndrome], 143500 (3), Autosomal recessive; Hyperbilirubinemia, familial transient neonatal, 237900 (3), Autosomal recessive; Crigler-Najjar syndrome, type I, 218800 (3), Autosomal recessive; Crigler-Najjar syndrome, type II, 606785 (3), Autosomal recessive; [Bilirubin, serum level of, QTL1], 601816 (3)
UMPSchr33q13Orotic aciduria, 258900 (3), Autosomal recessive
UNC13Dchr1717q25.1Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3), Autosomal recessive
UNC80chr22q35Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive
UNC93B1chr1111q13{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
UNGchr1212q23-q24.1Immunodeficiency with hyper IgM, type 5, 608106 (3), Autosomal recessive
UPB1chr2222q11.2Beta-ureidopropionase deficiency, 613161 (3), Autosomal recessive
UPF3BchrXXq25-q26Mental retardation, X-linked, syndromic 14, 300676 (3), X-linked recessive
UQCRBchr88q22Mitochondrial complex III deficiency, nuclear type 3, 615158 (3), Autosomal recessive
UQCRC2chr1616p12Mitochondrial complex III deficiency, nuclear type 5, 615160 (3), Autosomal recessive
UQCRFS1chr1919q12Mitochondrial complex III deficiency, nuclear type 10, 618775 (3), Autosomal recessive
UQCRQchr55q31.1Mitochondrial complex III deficiency, nuclear type 4, 615159 (3), Autosomal recessive
UROC1chr33q21.3?Urocanase deficiency, 276880 (3), Autosomal recessive
URODchr11p34Porphyria, hepatoerythropoietic, 176100 (3), Autosomal recessive, Autosomal dominant; Porphyria cutanea tarda, 176100 (3), Autosomal recessive, Autosomal dominant
UROSchr1010q25.2-q26.3Porphyria, congenital erythropoietic, 263700 (3), Autosomal recessive
USB1chr1616q13Poikiloderma with neutropenia, 604173 (3), Autosomal recessive
USH1Cchr1111p15.1Deafness, autosomal recessive 18A, 602092 (3), Autosomal recessive; Usher syndrome, type 1C, 276904 (3), Autosomal recessive
USH1Gchr1717q24-q25Usher syndrome, type 1G, 606943 (3), Autosomal recessive
USH2Achr11q41Retinitis pigmentosa 39, 613809 (3); Usher syndrome, type 2A, 276901 (3), Autosomal recessive
USP27XchrXXp11.2Mental retardation, X-linked 105, 300984 (3), X-linked recessive
USP9XchrXXp11.4Mental retardation, X-linked 99, 300919 (3), X-linked recessive; Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3), X-linked dominant
UVSSAchr44p16.3UV-sensitive syndrome 3, 614640 (3), Autosomal recessive
VAMP1chr1212p13.31Spastic ataxia 1, autosomal dominant, 108600 (3), Autosomal dominant; Myasthenic syndrome, congenital, 25, 618323 (3), Autosomal recessive
VARS2chr66p21.3Combined oxidative phosphorylation deficiency 20, 615917 (3), Autosomal recessive
VAX1chr1010q26.1?Microphthalmia, syndromic 11, 614402 (3), Autosomal recessive
VDRchr1212q12-q14Rickets, vitamin D-resistant, type IIA, 277440 (3), Autosomal recessive
VHLchr33p26-p25Pheochromocytoma, 171300 (3), Autosomal dominant; Erythrocytosis, familial, 2, 263400 (3), Autosomal recessive; von Hippel-Lindau syndrome, 193300 (3), Autosomal dominant; Renal cell carcinoma, somatic, 144700 (3); Hemangioblastoma, cerebellar, somatic (3)
VIPAS39chr1414q24.3Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3), Autosomal recessive
VLDLRchr99p24Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3), Autosomal recessive
VMA21chrXXq28Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive
VPS13Achr99q21Choreoacanthocytosis, 200150 (3), Autosomal recessive
VPS13Bchr88q22-q23Cohen syndrome, 216550 (3), Autosomal recessive
VPS33Bchr1515q26.1Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3), Autosomal recessive
VPS37Achr88p23-p21Spastic paraplegia 53, autosomal recessive, 614898 (3), Autosomal recessive
VPS45chr11q21-q22Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3), Autosomal recessive
VPS53chr1717p13.3Pontocerebellar hypoplasia, type 2E, 615851 (3), Autosomal recessive
VRK1chr1414q32Pontocerebellar hypoplasia type 1A, 607596 (3), Autosomal recessive
VSX2chr1414q24.3Microphthalmia with coloboma 3, 610092 (3); Microphthalmia, isolated 2, 610093 (3)
VWA3Bchr22q11.2?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3), Autosomal recessive
VWFchr1212p13.3von Willebrand disease, type 1, 193400 (3), Autosomal dominant; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3), Autosomal recessive, Autosomal dominant; von Willibrand disease, type 3, 277480 (3), Autosomal recessive
WASchrXXp11.23-p11.22Thrombocytopenia, X-linked, intermittent, 313900 (3), X-linked recessive; Thrombocytopenia, X-linked, 313900 (3), X-linked recessive; Wiskott-Aldrich syndrome, 301000 (3), X-linked recessive; Neutropenia, severe congenital, X-linked, 300299 (3), X-linked recessive
WASHC4chr1212q23.3?Mental retardation, autosomal recessive 43, 615817 (3), Autosomal recessive
WASHC5chr88q24.13Ritscher-Schinzel syndrome 1, 220210 (3), Autosomal recessive; Spastic paraplegia 8, autosomal dominant, 603563 (3), Autosomal dominant
WDPCPchr22p15?Bardet-Biedl syndrome 15, 615992 (3), Autosomal recessive; ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3), Autosomal recessive
WDR19chr44p14-p11Nephronophthisis 13, 614377 (3), Autosomal recessive; Senior-Loken syndrome 8, 616307 (3), Autosomal recessive; ?Cranioectodermal dysplasia 4, 614378 (3), Autosomal recessive; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3), Autosomal recessive
WDR35chr22p24.1Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3), Autosomal recessive; Cranioectodermal dysplasia 2, 613610 (3), Autosomal recessive
WDR4chr2121q22.3Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3), Autosomal recessive; Galloway-Mowat syndrome 6, 618347 (3), Autosomal recessive
WDR45Bchr1717q25.3Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive
WDR62chr1919q13.12Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3), Autosomal recessive
WDR72chr1515q21.3Amelogenesis imperfecta, type IIA3, 613211 (3), Autosomal recessive
WDR73chr1515q25.2Galloway-Mowat syndrome 1, 251300 (3), Autosomal recessive
WDR81chr1717p13.3Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3), Autosomal recessive; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3), Autosomal recessive
WFS1chr44p16.1?Cataract 41, 116400 (3), Autosomal dominant; Deafness, autosomal dominant 6/14/38, 600965 (3), Autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3), Autosomal dominant; Wolfram-like syndrome, autosomal dominant, 614296 (3), Autosomal dominant; Wolfram syndrome 1, 222300 (3), Autosomal recessive
WHRNchr99q32-q34Deafness, autosomal recessive 31, 607084 (3), Autosomal recessive; Usher syndrome, type 2D, 611383 (3), Autosomal recessive
WNK1chr1212p13Pseudohypoaldosteronism, type IIC, 614492 (3), Autosomal dominant; Neuropathy, hereditary sensory and autonomic, type II, 201300 (3), Autosomal recessive
WNT1chr1212q12-q13{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3); Osteogenesis imperfecta, type XV, 615220 (3), Autosomal recessive
WNT10Achr22q35Schopf-Schulz-Passarge syndrome, 224750 (3), Autosomal recessive; Tooth agenesis, selective, 4, 150400 (3), Autosomal recessive, Autosomal dominant; Odontoonychodermal dysplasia, 257980 (3), Autosomal recessive
WNT10Bchr1212q13Split-hand/foot malformation 6, 225300 (3), Autosomal recessive; Tooth agenesis, selective, 8, 617073 (3), Autosomal dominant
WNT3chr1717q21?Tetra-amelia syndrome 1, 273395 (3), Autosomal recessive
WNT4chr11p35?SERKAL syndrome, 611812 (3), Autosomal recessive; Mullerian aplasia and hyperandrogenism, 158330 (3), Autosomal dominant
WNT7Achr33p25Fuhrmann syndrome, 228930 (3), Autosomal recessive; Ulna and fibula, absence of, with severe limb deficiency, 276820 (3), Autosomal recessive
WRAP53chr1717p13Dyskeratosis congenita, autosomal recessive 3, 613988 (3), Autosomal recessive
WRNchr88p12-p11.2Werner syndrome, 277700 (3), Autosomal recessive
WWOXchr1616q23.3-q24.1Spinocerebellar ataxia, autosomal recessive 12, 614322 (3), Autosomal recessive; Epileptic encephalopathy, early infantile, 28, 616211 (3), Autosomal recessive; Esophageal squamous cell carcinoma, somatic, 133239 (3)
XDHchr22p23-p22Xanthinuria, type I, 278300 (3), Autosomal recessive
XIAPchrXXq25Lymphoproliferative syndrome, X-linked, 2, 300635 (3), X-linked recessive
XPAchr99q22.3Xeroderma pigmentosum, group A, 278700 (3), Autosomal recessive
XPCchr33p25Xeroderma pigmentosum, group C, 278720 (3), Autosomal recessive
XPNPEP3chr2222q13.31-q13.33Nephronophthisis-like nephropathy 1, 613159 (3), Autosomal recessive
XRCC1chr1919q13.2?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3), Autosomal recessive
XRCC2chr77q36.1?Fanconi anemia, complementation group U, 617247 (3), Autosomal recessive
XRCC4chr55q13-q14Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive
XYLT1chr1616p13.1{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Desbuquois dysplasia 2, 615777 (3), Autosomal recessive
XYLT2chr1717q21.3-q22{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3), Autosomal recessive; Spondyloocular syndrome, 605822 (3), Autosomal recessive
YARS2chr1212p11.21Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3), Autosomal recessive
ZAP70chr22q12Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3), Autosomal recessive; Immunodeficiency 48, 269840 (3), Autosomal recessive
ZBTB11chr33q12.3Intellectual developmental disorder, autosomal recessive 69, 618383 (3), Autosomal recessive
ZBTB16chr1111q23.1Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3), Autosomal recessive; Leukemia, acute promyelocytic, PL2F/RARA type (3)
ZBTB24chr66q21Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3), Autosomal recessive
ZBTB42chr1414q32.33?Lethal congenital contracture syndrome 6, 616248 (3), Autosomal recessive
ZC3H14chr1414q31.3Mental retardation, autosomal recessive 56, 617125 (3), Autosomal recessive
ZC4H2chrXXq11.2Wieacker-Wolff syndrome, 314580 (3), X-linked recessive; Wieacker-Wolff syndrome, female-restricted, 301041 (3), X-linked dominant
ZDHHC9chrXXq26.1Mental retardation, X-linked syndromic, Raymond type, 300799 (3), X-linked
ZEB2chr22q22Mowat-Wilson syndrome, 235730 (3), Autosomal dominant
ZFYVE26chr1414q24.1Spastic paraplegia 15, autosomal recessive, 270700 (3), Autosomal recessive
ZIC3chrXXq26.2Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3), X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955 (3), X-linked recessive; VACTERL association, X-linked, 314390 (3), X-linked recessive
ZMPSTE24chr11p34Restrictive dermopathy, lethal, 275210 (3), Autosomal recessive; Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3), Autosomal recessive
ZMYND10chr33p21.3Ciliary dyskinesia, primary, 22, 615444 (3), Autosomal recessive
ZMYND15chr1717p13.2?Spermatogenic failure 14, 615842 (3), Autosomal recessive
ZNF141chr44p16.3?Polydactyly, postaxial, type A6, 615226 (3), Autosomal recessive
ZNF335chr2020q11.2-q13.1Microcephaly 10, primary, autosomal recessive, 615095 (3), Autosomal recessive
ZNF408chr1111p11.2?Exudative vitreoretinopathy 6, 616468 (3), Autosomal dominant; Retinitis pigmentosa 72, 616469 (3), Autosomal recessive
ZNF41chrXXp22.1-cen
ZNF423chr1616q12Nephronophthisis 14, 614844 (3), Autosomal recessive, Autosomal dominant; Joubert syndrome 19, 614844 (3), Autosomal recessive, Autosomal dominant
ZNF469chr1616q24Brittle cornea syndrome 1, 229200 (3), Autosomal recessive
ZNF513chr22p24.1-p22.3?Retinitis pigmentosa 58, 613617 (3), Autosomal recessive
ZNF674chrXXp11
ZNF711chrXXq21.1-q21.3Mental retardation, X-linked 97, 300803 (3), X-linked
ZP1chr1111q12.2Oocyte maturation defect 1, 615774 (3), Autosomal recessive