Molecular Genetics

For Molecular Genetics and Molecular Pathology, we use a broad spectrum of techniques for mutational analysis. These include conventional methods such as Sanger sequencing, MLPA, and real-time PCR-based tumor mutation assays as well as state-of-the-art NGS-based gene panel and WES analysis.

Daily updated list of accredited analyses →

Single Gene Diagnostics

Single-gene diagnostics is primarily used for examinationof monogenic diseases with known etiology. The following methods are routinely used for diagnostics in our laboratory:

  1. Sanger sequencing: targeted DNA sequence analysis of individual genes/exons/nucleotide positions (e.g. in the case of familial or common mutations)
    The processing time is approx. 5 to 10 working days*.
  2. MLPA(Multiplex Ligation-dependent Probe Amplification): Analysis for large duplications or deletions within a gene
    The processing time is approx. 5 working days*.
  3. Methylation-sensitive MLPA: Analysis of the methylation pattern (imprinting effects) within a specific gene region
    The processing time is approx. 5 working days*.
  4. Microsatellite Length Analysis: Detection of triplet-repeat diseases (also repeat-expansion diseases), eg by means of fragment length analysis or repeat-primed PCR assays
    The processing time is approx. 5 to 10 working days*.
  5. Real time PCR: Detection of sequence variants using special mutation assays (especially in tumor diseases EGFR, BRAF, NRAS, KRAS, MSI)
    The processing time is approx. 5 working days*.
  6. melting curve analysis: Detection of specific sequence variants, which cause a slight shift in the melting temperature compared to a homozygous wild-type control sequence
    The processing time is approx. 5 working days*.
  7. Visual fragment analysis: Detection (presence/absence) of certain fragments by means of gel electrophoresis after gene-specific PCR amplification
    The processing time is approx. 5 working days*.

Gene panel diagnostics

Gene panel diagnostics is based on next generation sequencing (NGS) technology and is mainly used in cases of suspected heterogeneous disease (disease with multiple genetic etiologies). This method of high-throughput sequencing makes it possible to simultaneously sequence many genes and samples associated with a specific disease or phenotype of interest in one assay. Based on current knowledge and on our experience, we compile panels with all genes relevant for a particular disease and update and optimize these panels continuously. Additionally, for a given indication, we can customize gene panels according to the specifications of our clients. The processing time is approx. 10 to 20 working days*.
Note: The specification of a suspected diagnosis or a list of symptoms is an essential requirement for gene panel analysis and contributes significantly to arriving at or confirming the diagnosis.

Exome diagnostics

Exome diagnostics, or whole exome sequencing (WES), is also based on NGS technology. In contrast to gene panel diagnostics, WES is used to analyse the entire coding sequence of the human genome. This method is mainly applied for complex diseases (e.g. global developmental delay).
The processing time is approx. 10 to 20 working days*.

*The processing time may vary depending on the urgency of the submissions and the volume of samples.

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Approved Gene SymbolPhenotypesMIM Number
A2ML1{Otitis media, susceptibility to}, 166760610627
A4GALT[Blood group, P1Pk system, P(2) phenotype], 111400; NOR polyagglutination syndrome, 111400; [Blood group, P1Pk system, p phenotype], 111400607922
AA1Alopecia areata 1, 104000, Multifactorial104000
AA2Alopecia areata 2, 610753610753
AAA1Aortic aneurysm, familial abdominal 1, 100070100070
AAA2Aortic aneurysm, familial abdominal 2, 609782609782
AAA3{Aneurysm, familial abdominal 3}, 611891611891
AAA4Aortic aneurysm, familial abdominal 4, 614375614375
AAASAchalasia-addisonianism-alacrimia syndrome, 231550605378
AAGABKeratoderma, palmoplantar, punctate type IA, 148600614888
AARS1Developmental and epileptic encephalopathy 29, 616339; Charcot-Marie-Tooth disease, axonal, type 2N, 613287; ?Leukoencephalopathy, hereditary diffuse, with spheroids 2, 619661; Trichothiodystrophy 8, nonphotosensitive, 619691601065
AARS2Leukoencephalopathy, progressive, with ovarian failure, 615889; Combined oxidative phosphorylation deficiency 8, 614096612035
AASSHyperlysinemia, 238700605113
AAT1Aortic aneurysm, familial thoracic 1, 607086607086
AAT2Aortic aneurysm, familial thoracic 2, 607087607087
ABATGABA-transaminase deficiency, 613163137150
ABCA1Tangier disease, 205400; HDL deficiency, familial, 1, 604091600046
ABCA12Ichthyosis, congenital 4B (harlequin), 242500; Ichthyosis, congenital 4A, 601277607800
ABCA2Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808600047
ABCA3Surfactant metabolism dysfunction, pulmonary, 3, 610921601615
ABCA4Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; {Macular degeneration, age-related, 2}, 153800; Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Stargardt disease 1, 248200601691
ABCA5?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400612503
ABCA7{Alzheimer disease 9, susceptibility to}, 608907605414
ABCB1Encephalopathy, acute transient, 620950; {Inflammatory bowel disease 13}, 612244; {Colchicine resistance}, 120080171050
ABCB11Cholestasis, benign recurrent intrahepatic, 2, 605479; Cholestasis, progressive familial intrahepatic 2, 601847603201
ABCB4Gallbladder disease 1, 600803; Cholestasis, intrahepatic, of pregnancy, 3, 614972; Cholestasis, progressive familial intrahepatic 3, 602347171060
ABCB6Dyschromatosis universalis hereditaria 3, 615402; [Blood group, Langereis system], 111600; Pseudohyperkalemia, familial, 2, due to red cell leak, 609153; Microphthalmia/coloboma 7, 614497605452
ABCB7Anemia, sideroblastic, with ataxia, 301310, X-linked300135
ABCC1?Deafness 77, 618915158343
ABCC11[Axillary odor, variation in], 117800; [Earwax, wet/dry], 117800; [Colostrum secretion, variation in], 117800607040
ABCC2Dubin-Johnson syndrome, 237500601107
ABCC6Pseudoxanthoma elasticum, 264800; Arterial calcification, generalized, of infancy, 2, 614473; Pseudoxanthoma elasticum, forme fruste, 177850603234
ABCC8Diabetes mellitus, permanent neonatal 3, with or without neurologic features, 618857; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Hypoglycemia of infancy, leucine-sensitive, 240800; Hyperinsulinemic hypoglycemia, familial, 1, 256450600509
ABCC9Cardiomyopathy, dilated, 1O, 608569; Hypertrichotic osteochondrodysplasia (Cantu syndrome), 239850; ?Atrial fibrillation, familial, 12, 614050; Intellectual disability and myopathy syndrome, 619719601439
ABCD1Adrenoleukodystrophy, 300100, X-linked recessive; Adrenomyeloneuropathy, adult, 300100, X-linked recessive300371
ABCD3?Bile acid synthesis defect, congenital, 5, 616278170995
ABCD4Methylmalonic aciduria and homocystinuria, cblJ type, 614857603214
ABCG2[Junior blood group system], 614490; [Uric acid concentration, serum, QTL1], 138900, ?Autosomal dominant603756
ABCG5Sitosterolemia 2, 618666605459
ABCG8Sitosterolemia 1, 210250; {Gallbladder disease 4}, 611465605460
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674613599
ABHD16ASpastic paraplegia 86, 619735142620
ABHD5Chanarin-Dorfman syndrome, 275630604780
ABL1Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232, Somatic mutation; Congenital heart defects and skeletal malformations syndrome, 617602189980
ABO[Blood group, ABO system], 616093110300
ACACAAcetyl-CoA carboxylase deficiency, 613933200350
ACAD8Isobutyryl-CoA dehydrogenase deficiency, 611283604773
ACAD9Mitochondrial complex I deficiency, nuclear type 20, 611126611103
ACADMAcyl-CoA dehydrogenase, medium chain, deficiency of, 201450607008
ACADSAcyl-CoA dehydrogenase, short-chain, deficiency of, 201470606885
ACADSB2-methylbutyrylglycinuria, 610006600301
ACADVLVLCAD deficiency, 201475609575
ACAN?Spondyloepiphyseal dysplasia, Kimberley type, 608361; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813155760
ACAT1Alpha-methylacetoacetic aciduria, 203750607809
ACAT2?ACAT2 deficiency, 614055, Isolated cases100678
ACBD5Retinal dystrophy with leukodystrophy, 618863616618
ACBD6Neurodevelopmental disorder with progressive movement abnormalities, 620785616352
ACD?Dyskeratosis congenita 7, 616553; ?Dyskeratosis congenita 6, 616553609377
ACE{Stroke, hemorrhagic}, 614519; Renal tubular dysgenesis, 267430; {Myocardial infarction, susceptibility to}; {Microvascular complications of diabetes 3}, 612624; [Angiotensin I-converting enzyme, benign serum increase]; {SARS, progression of}106180
ACER3?Leukodystrophy, progressive, early childhood-onset, 617762617036
ACFCayler cardiofacial syndrome, 125520125520
ACHE[Blood group, Yt system], 112100100740
ACKR1[Blood group, Duffy system], 110700; [White blood cell count QTL], 611862; {Malaria, vivax, protection against}, 611162613665
ACKR3?Oculomotor-abducens synkinesis, 619215610376
ACO2Optic atrophy 9, 616289; Infantile cerebellar-retinal degeneration, 614559100850
ACOX1Mitchell syndrome, 618960; Peroxisomal acyl-CoA oxidase deficiency, 264470609751
ACOX2Bile acid synthesis defect, congenital, 6, 617308601641
ACP2?Lysosomal acid phosphatase deficiency, 200950171650
ACP4Amelogenesis imperfecta, type IJ, 617297606362
ACP5Spondyloenchondrodysplasia with immune dysregulation, 607944171640
ACR?Spermatogenic failure 87, 620500102480
ACRPSAcropectoral syndrome, 605967605967
ACRPVAcropectorovertebral dysplasia, 102510102510
ACSF3Combined malonic and methylmalonic aciduria, 614265614245
ACSL4Intellectual developmental disorder, X-linked 63, 300387, X-linked dominant300157
ACSL5?Diarrhea 13, 620357605677
ACSM3{?Hypertension, essential}145505
ACTA1Congenital myopathy 2B, severe infantile, 620265; ?Myopathy, scapulohumeroperoneal, 616852; Congenital myopathy 2C, severe infantile, 620278; Congenital myopathy 2A, typical, 161800102610
ACTA2Smooth muscle dysfunction syndrome, 613834; Aortic aneurysm, familial thoracic 6, 611788; Moyamoya disease 5, 614042102620
ACTBBaraitser-Winter syndrome 1, 243310; Becker nevus, syndromic or isolated, somatic mosaic, 604919; Thrombocytopenia 8, with dysmorphic features and developmental delay, 620475; Dystonia-deafness syndrome 1, 607371; Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic, 620479102630
ACTC1Left ventricular noncompaction 4, 613424; Cardiomyopathy, hypertrophic, 11, 612098; Atrial septal defect 5, 612794; Cardiomyopathy, dilated, 1R, 613424102540
ACTDDevelopmental dysplasia of the hip 1, 142700, Multifactorial142700
ACTG1Deafness 20/26, 604717; Baraitser-Winter syndrome 2, 614583102560
ACTG2Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, 619431; Visceral myopathy 1, 155310102545
ACTL6BDevelopmental and epileptic encephalopathy 76, 618468; Intellectual developmental disorder with severe speech and ambulation defects, 618470612458
ACTL7ASpermatogenic failure 86, 620499604303
ACTL9Spermatogenic failure 53, 619258619251
ACTN1Bleeding disorder, platelet-type, 15, 615193102575
ACTN2Myopathy, distal, 6, adult onset, 618655; Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158; Congenital myopathy 8, 618654; Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158102573
ACTN3[Sprinting performance], 617749; [Alpha-actinin-3 deficiency], 617749102574
ACTN4Glomerulosclerosis, focal segmental, 1, 603278604638
ACVR1Fibrodysplasia ossificans progressiva, 135100102576
ACVR1BPancreatic cancer, somatic, 260350601300
ACVR2BHeterotaxy, visceral, 4, autosomal, 613751602730
ACVRL1Telangiectasia, hereditary hemorrhagic, type 2, 600376601284
ACY1Aminoacylase 1 deficiency, 609924104620
AD10Alzheimer disease-10, 609636609636
AD11Alzheimer disease-11, 609790609790
AD12{Alzheimer disease 12}, 611073611073
AD13{Alzheimer disease-13}, 611152611152
AD14{Alzheimer disease-14}, 611154611154
AD15{Alzheimer disease-15}, 604154604154
AD16{Alzheimer disease 16}, 300756300756
AD5Alzheimer disease-5, 602096602096
AD6Alzheimer disease 6, 605526605526
AD7Alzheimer disease-7, 606187606187
AD8Alzheimer disease 8, 607116607116
ADAAdenosine deaminase deficiency, partial, 102700, Somatic mosaicism; Severe combined immunodeficiency due to ADA deficiency, 102700, Somatic mosaicism608958
ADA2Sneddon syndrome, 182410; Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688607575
ADAM10{Alzheimer disease 18, susceptibility to}, 615590; Reticulate acropigmentation of Kitamura, 615537602192
ADAM17?Inflammatory skin and bowel disease, neonatal, 1, 614328603639
ADAM22Developmental and epileptic encephalopathy 61, 617933603709
ADAM9Cone-rod dystrophy 9, 612775602713
ADAMTS10Weill-Marchesani syndrome 1, recessive, 277600608990
ADAMTS13Thrombotic thrombocytopenic purpura, hereditary, 274150604134
ADAMTS15Arthrogryposis, distal, type 12, 620545607509
ADAMTS17Weill-Marchesani 4 syndrome, recessive, 613195607511
ADAMTS18Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458607512
ADAMTS19Cardiac valvular dysplasia 2, 620067607513
ADAMTS2Ehlers-Danlos syndrome, dermatosparaxis type, 225410604539
ADAMTS3Hennekam lymphangiectasia-lymphedema syndrome 3, 618154605011
ADAMTSL2Geleophysic dysplasia 1, 231050612277
ADAMTSL4Ectopia lentis et pupillae, 225200; Ectopia lentis, isolated, 225100610113
ADARDyschromatosis symmetrica hereditaria, 127400; Aicardi-Goutieres syndrome 6, 615010146920
ADARB1Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862601218
ADAT3Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, 615286615302
ADCY1?Deafness 44, 610154103072
ADCY10{Hypercalciuria, absorptive, susceptibility to}, 143870605205
ADCY3{Obesity, susceptibility to, BMIQ19}, 617885600291
ADCY5Dyskinesia with orofacial involvement, 606703; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, 619651; Dyskinesia with orofacial involvement, 619647600293
ADCY6Lethal congenital contracture syndrome 8, 616287600294
ADD1{Hypertension, essential, salt-sensitive}, 145500, Multifactorial102680
ADD3Cerebral palsy, spastic quadriplegic, 3, 617008601568
ADFNAlbinism-deafness syndrome, 300700, X-linked300700
ADGRE2Vibratory urticaria, 125630606100
ADGRG1Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian), 615752; Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal), 606854604110
ADGRG2Congenital bilateral absence of vas deferens, X-linked, 300985, X-linked300572
ADGRG6Lethal congenital contracture syndrome 9, 616503612243
ADGRL1Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, 620065616416
ADGRV1Usher syndrome, type 2C, 605472, Digenic dominant; Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472, Digenic dominant; ?Febrile seizures, familial, 4, 604352602851
ADH1B{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780, Multifactorial; {Alcohol dependence, protection against}, 103780, Multifactorial103720
ADH1C{Alcohol dependence, protection against}, 103780, Multifactorial; {Parkinson disease, susceptibility to}, 168600, Multifactorial103730
ADH5AMED syndrome, digenic, 619151, Digenic recessive103710
ADHD1{Attention deficit-hyperactivity disorder, susceptibility to, 1}, 608903608903
ADHD2{Attention deficit-hyperactivity disorder, susceptibility to, 2}, 608904608904
ADHD3{Attention deficit-hyperactivity disorder, susceptibility to, 3}, 608905608905
ADHD4{Attention deficit-hyperactivity disorder, susceptibility to, 4}, 608906608906
ADHD5{Attention deficit-hyperactivity disorder, susceptibility to, 5}, 612311612311
ADHD6{Attention deficit-hyperactivity disorder, susceptibility to, 6}, 612312612312
ADIPOQAdiponectin deficiency, 612556605441
ADIPQTL2{Adiponectin, serum level of, QTL2}, 606770606770
ADIPQTL3{Adiponectin, serum level of, QTL3}, 606771606771
ADIPQTL4{Adiponectin, serum level of, QTL4}, 612629612629
ADIPQTL5[Adiponectin, serum level of, QTL5], 613836613836
ADKHypermethioninemia due to adenosine kinase deficiency, 614300102750
ADNPHelsmoortel-van der Aa syndrome, 615873611386
ADPRSNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170610624
ADRA2A?Lipodystrophy, familial partial, type 8, 620679104210
ADRB1?[Short sleep, familial natural, 2], 618591; [Resting heart rate], 607276109630
ADRB2Beta-2-adrenoreceptor agonist, reduced response to109690
ADRB3{Obesity, susceptibility to}, 601665, Multifactorial109691
ADSLAdenylosuccinase deficiency, 103050608222
ADSS1Myopathy, distal, 5, 617030612498
AEBP1Ehlers-Danlos syndrome, classic-like, 2, 618000602981
AFA1Alopecia, androgenetic, 1, 109200109200
AFF2Intellectual developmental disorder, X-linked 109, 309548, X-linked recessive300806
AFF3KINSSHIP syndrome, 619297601464
AFF4CHOPS syndrome, 616368604417
AFG2ANeurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, 616577613940
AFG2BDeafness 119, 619615; Neurodevelopmental disorder with hearing loss and spasticity, 619616619578
AFG3L2Spastic ataxia 5, 614487; Optic atrophy 12, 618977; Spinocerebellar ataxia 28, 610246604581
AFP[Hereditary persistence of alpha-fetoprotein], 615970; Alpha-fetoprotein deficiency, 615969104150
AGAAspartylglucosaminuria, 208400613228
AGA2Alopecia, androgenetic, 2, 300710300710
AGA3Alopecia, androgenetic, 3, 612421612421
AGBL1Corneal dystrophy, Fuchs endothelial, 8, 615523615496
AGBL5Retinitis pigmentosa 75, 617023615900
AGKCataract 38, 614691; Sengers syndrome, 212350610345
AGLGlycogen storage disease IIIa, 232400; Glycogen storage disease IIIb, 232400610860
AGO1Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, 620292606228
AGO2Lessel-Kreienkamp syndrome, 619149606229
AGPAT2Lipodystrophy, congenital generalized, type 1, 608594603100
AGPSRhizomelic chondrodysplasia punctata, type 3, 600121603051
AGR2Respiratory infections, recurrent, and failure to thrive with or without diarrhea, 620233606358
AGRNMyasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120103320
AGRP{Leanness, inherited}, 601665, Multifactorial; {Obesity, late-onset}, 601665, Multifactorial602311
AGSPXAngio serpiginosum, 300652, X-linked dominant300652
AGTRenal tubular dysgenesis, 267430106150
AGTPBP1Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276606830
AGTR1{Hypertension, essential}, 145500, Multifactorial; Renal tubular dysgenesis, 267430106165
AGXTHyperoxaluria, primary, type 1, 259900604285
AGXT2[Beta-aminoisobutyric acid, urinary excretion of], 210100612471
AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752180960
AHDC1Xia-Gibbs syndrome, 615829615790
AHI1Joubert syndrome 3, 608629608894
AHRFoveal hypoplasia 3, 620958; ?Retinitis pigmentosa 85, 618345600253
AHSG?Alopecia-intellectual disability syndrome 1, 203650138680
AICAicardi syndrome, 304050, X-linked dominant304050
AICDAImmunodeficiency with hyper-IgM, type 2, 605258605257
AIFM1Combined oxidative phosphorylation deficiency 6, 300816, X-linked recessive; Cowchock syndrome, 310490, X-linked recessive; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232, X-linked recessive; Deafness, X-linked 5, 300614, X-linked recessive300169
AIH3?Amelogenesis imperfecta, type IE, X-linked 2, 301201, X-linked301201
AIMP1Leukodystrophy, hypomyelinating, 3, 260600603605
AIMP2Leukodystrophy, hypomyelinating, 17, 618006600859
AIPPituitary adenoma 1, multiple types, 102200, Somatic mutation; Pituitary adenoma predisposition, 102200, Somatic mutation605555
AIPL1Leber congenital amaurosis 4, 604393; Retinitis pigmentosa, juvenile, 604393; Cone-rod dystrophy, 604393604392
AIRAcute insulin response, 601676601676
AIREAutoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300607358
AIS2{Autoimmune disease, susceptibility to, 2}, 608391608391
AIS3{Autoimmune disease, susceptibility to, 3}, 608392608392
AIS4{Autoimmune disease, susceptibility to, 4}, 609400609400
AITD1{Autoimmune thyroid disease, susceptibility to, 1}, 608173608173
AITD2{Autoimmune thyroid disease, susceptibility to, 2}, 608174608174
AITD4{Autoimmune thyroid disease, susceptibility to, 4}, 608176608176
AK1Anemia, congenital, nonspherocytic hemolytic, 3, adenylate kinase deficient, 612631103000
AK2Reticular dysgenesis, 267500103020
AK7?Spermatogenic failure 27, 617965615364
AK9Spermatogenic failure 89, 620705615358
AKAP3Spermatogenic failure 82, 620353604689
AKAP9?Long QT syndrome 11, 611820604001
AKR1C246XY sex reversal 8, 614279600450
AKR1C4{46XY sex reversal 8, modifier of}, 614279600451
AKR1D1Bile acid synthesis defect, congenital, 2, 235555604741
AKT1Breast cancer, somatic, 114480; Cowden syndrome 6, 615109; Colorectal cancer, somatic, 114500; Proteus syndrome, somatic, 176920; Ovarian cancer, somatic, 167000164730
AKT2Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900164731
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937611223
ALADPorphyria, acute hepatic, 612740; {Lead poisoning, susceptibility to}, 612740125270
ALAS2Anemia, sideroblastic, 1, 300751, X-linked recessive; Protoporphyria, erythropoietic, X-linked, 300752, X-linked301300
ALB?[Dysalbuminemic hypertriiodothyroninemia], 615999; Analbuminemia, 616000; [Dysalbuminemic hyperthyroxinemia], 615999103600
ALDH18A1Spastic paraplegia 9A, 601162; Cutis laxa, type IIIA, 219150; Spastic paraplegia 9B, 616586; Cutis laxa 3, 616603138250
ALDH1A2Diaphragmatic hernia 4, with cardiovascular defects, 620025603687
ALDH1A3Microphthalmia, isolated 8, 615113600463
ALDH2{Esophageal cancer, alcohol-related, susceptibility to}; {Sublingual nitroglycerin, susceptibility to poor response to}; Alcohol sensitivity, acute, 610251; {Hangover, susceptibility to}, 610251100650
ALDH3A2Sjogren-Larsson syndrome, 270200609523
ALDH4A1Hyperprolinemia, type II, 239510606811
ALDH5A1Succinic semialdehyde dehydrogenase deficiency, 271980610045
ALDH6A1Methylmalonate semialdehyde dehydrogenase deficiency, 614105603178
ALDH7A1Epilepsy, early-onset, 4, vitamin B6-dependent, 266100107323
ALDOAGlycogen storage disease XII, 611881103850
ALDOBFructose intolerance, hereditary, 229600612724
ALG1Congenital disorder of glycosylation, type Ik, 608540605907
ALG10B{Long QT syndrome, acquired, reduced susceptibility to}, 613688603313
ALG11Congenital disorder of glycosylation, type Ip, 613661613666
ALG12Congenital disorder of glycosylation, type Ig, 607143607144
ALG13Developmental and epileptic encephalopathy 36, 300884, X-linked300776
ALG14Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies, 619031; Myopathy, epilepsy, and progressive cerebral atrophy, 619036; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227612866
ALG2Congenital disorder of glycosylation, type Ii, 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228607905
ALG3Congenital disorder of glycosylation, type Id, 601110608750
ALG5Polycystic kidney disease 7, 620056604565
ALG6Congenital disorder of glycosylation, type Ic, 603147604566
ALG8Congenital disorder of glycosylation, type Ih, 608104; Polycystic liver disease 3 with or without kidney cysts, 617874608103
ALG9Gillessen-Kaesbach-Nishimura syndrome, 263210; Congenital disorder of glycosylation, type Il, 608776606941
ALK{Neuroblastoma, susceptibility to, 3}, 613014105590
ALKBH8Intellectual developmental disorder 71, 618504613306
ALL1{Leukemia, acute lymphocytic, susceptibility to, 1}, 613065613065
ALL2{Leukemia, acute lymphoblastic, susceptibility to, 2}, 613067613067
ALMS1Alstrom syndrome, 203800606844
ALOX12BIchthyosis, congenital 2, 242100603741
ALOX5{Atherosclerosis, susceptibility to}; {Asthma, diminished response to antileukotriene treatment in}, 600807152390
ALOX5AP{Stroke, susceptibility to}, 601367, Multifactorial603700
ALOXE3Ichthyosis, congenital 3, 606545607206
ALPK1ROSAH syndrome, 614979607347
ALPK3Cardiomyopathy, familial hypertrophic 27, 618052617608
ALPLOdontohypophosphatasia, 146300; Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241510; Hypophosphatasia, adult, 146300171760
ALPQTL1{Alkaline phosphatase, plasma level of, QTL1}, 171720, ?Autosomal dominant171720
ALPQTL2{Alkaline phosphatase, plasma level of, QTL 2}, 612367612367
ALPQTL3{Alkaline phosphatase, plasma level of, QTL3}, 612368612368
ALPQTL4{Alkaline phosphatase, plasma level of, QTL4}, 612369612369
ALS2Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100606352
ALS3Amyotrophic lateral sclerosis 3, 606640606640
ALS7Amyotrophic lateral sclerosis 7, 608031608031
ALX1Frontonasal dysplasia 3, 613456601527
ALX3Frontonasal dysplasia 1, 136760606014
ALX4Parietal foramina 2, 609597; {Craniosynostosis 5, susceptibility to}, 615529; Frontonasal dysplasia 2, 613451605420
AMACRAlpha-methylacyl-CoA racemase deficiency, 614307; Bile acid synthesis defect, congenital, 4, 214950604489
AMBNAmelogenesis imperfecta, type IF, 616270601259
AMELXAmelogenesis imperfecta, type 1E, 301200, X-linked dominant300391
AMER1Osteopathia striata with cranial sclerosis, 300373, X-linked dominant300647
AMFRSpastic paraplegia 89, 620379603243
AMHPersistent Mullerian duct syndrome, type I, 261550600957
AMHR2Persistent Mullerian duct syndrome, type II, 261550600956
AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990, X-linked recessive300195
AMNImerslund-Grasbeck syndrome 2, 618882605799
AMPD1Myopathy due to myoadenylate deaminase deficiency, 615511102770
AMPD2Pontocerebellar hypoplasia, type 9, 615809; ?Spastic paraplegia 63, 615686102771
AMPD3[AMP deaminase deficiency, erythrocytic], 612874102772
AMTGlycine encephalopathy 2, 620398238310
AMTN?Amelogenesis imperfecta, type IIIB, 617607610912
ANAPC1Rothmund-Thomson syndrome, type 1, 618625608473
ANAPC7Ferguson-Bonni neurodevelopmental syndrome, 619699606949
ANBCAneurysmal bone cysts, 606179606179
ANC?Anal canal carcinoma, 105580105580
ANGAmyotrophic lateral sclerosis 9, 611895105850
ANGPT1?Angioedema, hereditary, 5, 619361601667
ANGPT2Lymphatic malformation 10, 619369601922
ANGPTL3Hypobetalipoproteinemia, familial, 2, 605019604774
ANGPTL4Plasma triglyceride level QTL, low, 615881605910
ANIB1Aneurysm, intracranial berry, 1, 105800105800
ANIB10{Aneurysm, intracranial berry, 10}, 612587612587
ANIB11Aneurysm, intracranial berry, 11, 614252614252
ANIB2Aneurysm, intracranial berry, 2, 608542608542
ANIB3Aneurysm, intracranial berry, 3, 609122609122
ANIB4Aneurysm, intracranial berry, 4, 610213610213
ANIB5Aneurysm, intracranial berry, 5, 300870300870
ANIB6{Aneurysm, intracranial berry, 6}, 611892611892
ANIB7Aneurysm, intracranial berry, 7, 612161612161
ANIB8Aneurysm, intracranial berry, 8, 612162612162
ANIB9{Aneurysm, intracranial berry, 9}, 612586612586
ANICAnosmia, isolated congenital, 107200107200
ANK1Spherocytosis, type 1, 182900612641
ANK2Long QT syndrome 4, 600919; Cardiac arrhythmia, ankyrin-B-related, 600919106410
ANK3Intellectual developmental disorder 37, 615493600465
ANKHChondrocalcinosis 2, 118600; Craniometaphyseal dysplasia, 123000605145
ANKLE2Microcephaly 16, primary, 616681616062
ANKRD11KBG syndrome, 148050611192
ANKRD17Chopra-Amiel-Gordon syndrome, 619504615929
ANKRD26Thrombocytopenia 2, 188000610855
ANKS6Nephronophthisis 16, 615382615370
ANLNFocal segmental glomerulosclerosis 8, 616032616027
ANMAAnisomastia, 605746605746
ANO1Moyamoya disease 7, 620687; ?Intestinal dysmotility syndrome, 620045610108
ANO10Spinocerebellar ataxia 10, 613728613726
ANO3Dystonia 24, 615034610110
ANO5Muscular dystrophy, limb-girdle 12, 611307; Miyoshi muscular dystrophy 3, 613319; Gnathodiaphyseal dysplasia, 166260608662
ANO6Scott syndrome, 262890608663
ANON1{Anorexia nervosa, susceptibility to, 1}, 606788606788
ANOS1Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700, X-linked recessive300836
ANTXR1GAPO syndrome, 230740; {?Hemangioma, capillary infantile, susceptibility to}, 602089606410
ANTXR2Hyaline fibromatosis syndrome, 228600608041
ANXA11Amyotrophic lateral sclerosis 23, 617839; Inclusion body myopathy and brain white matter abnormalities, 619733602572
ANXA5{Pregnancy loss, recurrent, susceptibility to, 3}, 614391131230
AOCHAcromegaloid features, overgrowth, cleft palate, and hernia, 606049606049
AOMS1Abdominal obesity-metabolic syndrome 1, 605552605552
AOMS2Abdominal obesity-metabolic syndrome, 605572605572
AOPEPDystonia 31, 619565619600
AP1B1Keratitis-ichthyosis-deafness syndrome, 242150600157
AP1G1Usmani-Riazuddin syndrome, 619548; Usmani-Riazuddin syndrome, 619467603533
AP1S1MEDNIK syndrome, 609313603531
AP1S2Pettigrew syndrome, 304340, X-linked recessive300629
AP1S3{Psoriasis 15, pustular, susceptibility to}, 616106615781
AP2M1Intellectual developmental disorder 60 with seizures, 618587601024
AP2S1Hypocalciuric hypercalcemia, type III, 600740602242
AP3B1Hermansky-Pudlak syndrome 2, 608233603401
AP3B2Developmental and epileptic encephalopathy 48, 617276602166
AP3D1?Hermansky-Pudlak syndrome 10, 617050607246
AP4B1Spastic paraplegia 47, 614066607245
AP4E1Stuttering, familial persistent, 1, 184450; Spastic paraplegia 51, 613744607244
AP4M1Spastic paraplegia 50, 612936602296
AP4S1Spastic paraplegia 52, 614067607243
AP5Z1Spastic paraplegia 48, 613647613653
APCColorectal cancer, somatic, 114500; Brain tumor-polyposis syndrome 2, 175100; Desmoid disease, hereditary, 135290; Adenoma, periampullary, somatic, 175100; Hepatoblastoma, somatic, 114550; Gastric cancer, somatic, 613659; Gastric adenocarcinoma and proximal polyposis of the stomach, 619182; Gardner syndrome, 175100; Adenomatous polyposis coli, 175100611731
APC2Cortical dysplasia, complex, with other brain malformations 10, 618677; Intellectual developmental disorder 74, 617169612034
APCDD1Hypotrichosis 1, 605389607479
APMR2Alopecia-intellectual disability syndrome 2, 610422610422
APMR3Alopecia-intellectual disability syndrome 3, 613930613930
APOA1Hypoalphalipoproteinemia, primary, 2, 618463; Amyloidosis, hereditary systemic 3, 620657; Hypoalphalipoproteinemia, primary, 2, intermediate, 619836107680
APOA2Apolipoprotein A-II deficiency; {Hypercholesterolemia, familial, modifier of}, 143890107670
APOA5Hyperchylomicronemia, late-onset, 144650; {Hypertriglyceridemia, susceptibility to}, 145750606368
APOBHypercholesterolemia, familial, 2, 144010; Hypobetalipoproteinemia, 615558107730
APOC2Hyperlipoproteinemia, type Ib, 207750608083
APOC3Apolipoprotein C-III deficiency, 614028107720
APOEAlzheimer disease 2, 104310; Sea-blue histiocyte disease, 269600; {?Alzheimer disease, protection against, due to APOE3-Christchurch}, 607822; {Coronary artery disease, severe, susceptibility to}, 617347; Lipoprotein glomerulopathy, 611771; {?Macular degeneration, age-related}, 603075; Hyperlipoproteinemia, type III, 617347107741
APOL1{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551603743
APOL2{Schizophrenia}, 181500607252
APOL4{Schizophrenia}, 181500607254
APOLD1?Bleeding disorder, vascular-type, 620715612456
APPCerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714; Alzheimer disease 1, familial, 104300104760
APPL1{Maturity-onset diabetes of the young, type 14}, 616511604299
APRTAdenine phosphoribosyltransferase deficiency, 614723102600
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920606350
AQP1[Aquaporin-1 deficiency], 110450; [Blood group, Colton], 110450107776
AQP2Diabetes insipidus, nephrogenic, 2, 125800107777
AQP3[Blood group GIL], 607457600170
AQP4?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting, 620448600308
AQP5Palmoplantar keratoderma, Bothnian type, 600231600442
AQP7[Glycerol quantitative trait locus], 614411602974
ARAndrogen insensitivity, partial, with or without breast cancer, 312300, X-linked recessive; Spinal and bulbar muscular atrophy, X-linked 1, 313200, X-linked recessive; {Prostate cancer, susceptibility to}, 301120, X-linked; Androgen insensitivity, 300068, X-linked recessive; Hypospadias 1, X-linked, 300633, X-linked recessive313700
ARCI7Ichthyosis, congenital 7, 615022615022
ARCN1Short stature-micrognathia syndrome, 617164600820
ARF1Periventricular nodular heterotopia 8, 618185103180
ARFGEF1Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, 619964604141
ARFGEF2Periventricular heterotopia with microcephaly, 608097605371
ARG1Argininemia, 207800608313
ARHGAP26Leukemia, juvenile myelomonocytic, somatic, 607785605370
ARHGAP31Adams-Oliver syndrome 1, 100300610911
ARHGDIANephrotic syndrome, type 8, 615244601925
ARHGEF1?Immunodeficiency 62, 618459601855
ARHGEF10?Slowed nerve conduction velocity, AD, 608236608136
ARHGEF18Retinitis pigmentosa 78, 617433616432
ARHGEF2?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523607560
ARHGEF9Developmental and epileptic encephalopathy 8, 300607, X-linked300429
ARHI1{Age-related hearing impairment 1}, 612448612448
ARHI2{Age-related hearing impairment 2}, 612976612976
ARID1ACoffin-Siris syndrome 2, 614607603024
ARID1BCoffin-Siris syndrome 1, 135900614556
ARID2Coffin-Siris syndrome 6, 617808609539
ARL13BJoubert syndrome 8, 612291608922
ARL2?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1, 619082601175
ARL2BPRetinitis pigmentosa 82 with or without situs inversus, 615434615407
ARL3Retinitis pigmentosa 83, 618173; Joubert syndrome 35, 618161604695
ARL6Retinitis pigmentosa 55, 613575; {Bardet-Biedl syndrome 1, modifier of}, 209900, Digenic recessive; Bardet-Biedl syndrome 3, 600151608845
ARL6IP1Spastic paraplegia 61, 615685607669
ARMC12Spermatogenic failure 90, 620744620377
ARMC2Spermatogenic failure 38, 618433618424
ARMC5ACTH-independent macronodular adrenal hyperplasia 2, 615954, Somatic mutation615549
ARMC9Joubert syndrome 30, 617622617612
ARMS2{Macular degeneration, age-related, 8}, 613778611313
ARNT2?Webb-Dattani syndrome, 615926606036
ARPC1BImmunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, 617718604223
ARPC4Developmental delay, language impairment, and ocular abnormalities, 620141604226
ARPC5Immunodeficiency 133 with autoimmunity and autoinflammation, 620565604227
ARR3Myopia 26, X-linked, female-limited, 301010, X-linked301770
ARSAMetachromatic leukodystrophy, 250100607574
ARSBMucopolysaccharidosis type VI (Maroteaux-Lamy), 253200611542
ARSGUsher syndrome, type IV, 618144610008
ARSKMucopolysaccharidosis, type X, 619698610011
ARSLChondrodysplasia punctata, X-linked recessive, 302950, X-linked recessive300180
ART4[Blood group, Dombrock], 616060110600
ARV1Developmental and epileptic encephalopathy 38, 617020611647
ARVD3Arrhythmogenic right ventricular dysplasia 3, 602086602086
ARVD4Arrhythmogenic right ventricular dysplasia 4, 602087602087
ARVD6Arrhythmogenic right ventricular dysplasia 6, 604401604401
ARXProud syndrome, 300004, X-linked; Hydranencephaly with abnormal genitalia, 300215, X-linked; Partington syndrome, 309510, X-linked recessive; Developmental and epileptic encephalopathy 1, 308350, X-linked recessive; Lissencephaly, X-linked 2, 300215, X-linked; Intellectual developmental disorder, X-linked 29, 300419, X-linked recessive300382
ASAH1Spinal muscular atrophy with progressive myoclonic epilepsy, 159950; Farber lipogranulomatosis, 228000613468
ASB10Glaucoma 1, open angle, F, 603383615054
ASCC1Spinal muscular atrophy with congenital bone fractures 2, 616867; Barrett esophagus/esophageal adenocarcinoma, 614266614215
ASCC3Intellectual developmental disorder 81, 620700614217
ASD1Atrial septal defect 1, 108800108800
ASH1LIntellectual developmental disorder 52, 617796607999
ASIP[Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742; [Skin/hair/eye pigmentation 9, dark/light hair], 611742600201
ASLArgininosuccinic aciduria, 207900608310
ASNSAsparagine synthetase deficiency, 615574108370
ASPACanavan disease, 271900608034
ASPG1{Asperger syndrome susceptibility 1}, 608638, Multifactorial, Isolated cases608638
ASPG2{Asperger syndrome susceptibility 2}, 608631, Multifactorial, Isolated cases608631
ASPG3{Asperger syndrome susceptibility 3}, 608781608781
ASPG4{Asperger syndrome susceptibility 4}, 609954609954
ASPHTraboulsi syndrome, 601552600582
ASPMMicrocephaly 5, primary, 608716605481
ASPN{Lumbar disc degeneration}, 603932; {Osteoarthritis susceptibility 3}, 607850608135
ASPRV1Ichthyosis, lamellar, 146750611765
ASPSCR1Alveolar soft-part sarcoma, 606243606236
ASRT3{Asthma-related traits, susceptibility to, 3}, 609958609958
ASRT4{Asthma-related traits, susceptibility to, 4}, 610906610906
ASRT6{Asthma-related traits, susceptibility to, 6}, 611403611403
ASRT8{Asthma-related traits, susceptibility to, 8}, 613207613207
ASS1Citrullinemia, 215700603470
ASTL?Oocyte/zygote/embryo maturation arrest 11, 619643608860
ASXL1Myelodysplastic syndrome, somatic, 614286; Bohring-Opitz syndrome, 605039612990
ASXL2Shashi-Pena syndrome, 617190612991
ASXL3Bainbridge-Ropers syndrome, 615485615115
ATAD1Hyperekplexia 4, 618011614452
ATAD3AHarel-Yoon syndrome, 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810612316
ATCAYAtaxia, cerebellar, Cayman type, 601238608179
ATDShort-rib thoracic dysplasia 1 with or without polydactyly, 208500208500
ATF6Achromatopsia 7, 616517605537
ATFB1Atrial fibrillation, familial, 1, 608583608583
ATFB2Atrial fibrillation, familial, 2, 608988608988
ATFB5{Atrial fibrillation, familial, 5}, 611494611494
ATG16L1{Inflammatory bowel disease (Crohn disease) 10}, 611081610767
ATG5?Spinocerebellar ataxia 25, 617584604261
ATG7Spinocerebellar ataxia 31, 619422608760
ATHS{Atherosclerosis, susceptibility to}, 108725108725
ATICAICA-ribosiduria due to ATIC deficiency, 608688601731
ATL1Spastic paraplegia 3A, 182600; Neuropathy, hereditary sensory, type ID, 613708606439
ATL3Neuropathy, hereditary sensory, type IF, 615632609369
ATMLymphoma, B-cell non-Hodgkin, somatic; Ataxia-telangiectasia, 208900; {Breast cancer, susceptibility to}, 114480, Somatic mutation; T-cell prolymphocytic leukemia, somatic; Lymphoma, mantle cell, somatic607585
ATN1Dentatorubral-pallidoluysian atrophy, 125370; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494607462
ATOD1{Dermatitis, atopic, susceptibility to, 1}, 603165603165
ATOD3{Dermatitis, atopic, susceptibility to, 3}, 605804605804
ATOD5{Dermatitis, atopic, susceptibility to, 5}, 605844605844
ATOD6{Dermatitis, atopic, susceptibility to, 6}, 605845605845
ATOD7{Dermatitis, atopic, susceptibility to, 7}, 613064613064
ATOD8{Dermatitis, atopic, susceptibility to, 8}, 613518613518
ATOD9{Dermatitis, atopic, susceptibility to, 9}, 613519613519
ATOH1?Deafness 89, 620284601461
ATOH7Persistent hyperplastic primary vitreous, 221900609875
ATP11A?Auditory neuropathy 2, 620384; ?Leukodystrophy, hypomyelinating, 24, 619851; Deafness 84, 619810605868
ATP11C?Hemolytic anemia, congenital, X-linked, 301015, X-linked recessive300516
ATP13A2Spastic paraplegia 78, 617225; Kufor-Rakeb syndrome, 606693610513
ATP13A3Pulmonary hypertension, primary, 5, 265400610232
ATP1A1Hypomagnesemia, seizures, and impaired intellectual development 2, 618314; Charcot-Marie-Tooth disease, axonal, type 2DD, 618036182310
ATP1A2Developmental and epileptic encephalopathy 98, 619605; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, 619602; Alternating hemiplegia of childhood 1, 104290; Migraine, familial basilar, 602481; Migraine, familial hemiplegic, 2, 602481182340
ATP1A3Alternating hemiplegia of childhood 2, 614820; Dystonia-12, 128235; CAPOS syndrome, 601338; Developmental and epileptic encephalopathy 99, 619606182350
ATP1B1[Blood pressure regulation QTL], 145500, Multifactorial182330
ATP2A1Brody myopathy, 601003108730
ATP2A2Acrokeratosis verruciformis, 101900; Darier disease, 124200108740
ATP2B1Intellectual developmental disorder 66, 619910108731
ATP2B2Deafness 82, 619804; {Deafness 12, modifier of}, 601386108733
ATP2B3?Spinocerebellar ataxia, X-linked 1, 302500, X-linked recessive300014
ATP2C1Hailey-Hailey disease, 169600604384
ATP5F1AMitochondrial complex V (ATP synthase) deficiency, nuclear type 4A, 620358; ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type, 615228164360
ATP5F1B?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, 620085102910
ATP5F1DMitochondrial complex V (ATP synthase) deficiency, 618120603150
ATP5F1EMitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053606153
ATP5MC3Dystonia, early-onset, and/or spastic paraplegia, 619681602736
ATP5MKMitochondrial complex V (ATP synthase) deficiency, nuclear type 6, 618683615204
ATP5POMitochondrial complex V (ATP synthase) deficiency, nuclear type 7, 620359600828
ATP6AP1Immunodeficiency 47, 300972, X-linked recessive300197
ATP6AP2Intellectual developmental disorder, X-linked syndromic, Hedera type, 300423, X-linked recessive; ?Parkinsonism with spasticity, X-linked, 300911, X-linked recessive; Congenital disorder of glycosylation, type IIr, 301045, X-linked recessive300556
ATP6V0A1Neurodevelopmental disorder with epilepsy and brain atrophy, 619971; Developmental and epileptic encephalopathy 104, 619970192130
ATP6V0A2Wrinkly skin syndrome, 278250; Cutis laxa, type IIA, 219200611716
ATP6V0A4Distal renal tubular acidosis 3, with or without sensorineural hearing loss, 602722605239
ATP6V0CEpilepsy, early-onset, 3, with or without developmental delay, 620465108745
ATP6V1ACutis laxa, type IID, 617403; Developmental and epileptic encephalopathy 93, 618012607027
ATP6V1B1Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, 267300192132
ATP6V1B2Zimmermann-Laband syndrome 2, 616455; Deafness, congenital, with onychodystrophy, 124480606939
ATP6V1E1Cutis laxa, type IIC, 617402108746
ATP7AOccipital horn syndrome, 304150, X-linked recessive; Neuronopathy, distal hereditary motor, X-linked, 300489, X-linked recessive; Menkes disease, 309400, X-linked recessive300011
ATP7BWilson disease, 277900606882
ATP8A2Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4, 615268605870
ATP8B1Cholestasis, progressive familial intrahepatic 1, 211600; Cholestasis, intrahepatic, of pregnancy, 1, 147480; Cholestasis, benign recurrent intrahepatic, 243300602397
ATP9ANeurodevelopmental disorder with poor growth and behavioral abnormalities, 620242609126
ATPAF2?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273608918
ATPLS?Antiphospholipid syndrome, familial, 107320107320
ATRSeckel syndrome 1, 210600; ?Cutaneous telangiectasia and cancer syndrome, familial, 614564601215
ATRXAlpha-thalassemia myelodysplasia syndrome, somatic, 300448; Intellectual disability-hypotonic facies syndrome, X-linked, 309580, X-linked recessive; Alpha-thalassemia/impaired intellectual development syndrome, 301040, X-linked dominant300032
ATXN1Spinocerebellar ataxia 1, 164400601556
ATXN10Spinocerebellar ataxia 10, 603516611150
ATXN2{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090; Spinocerebellar ataxia 2, 183090; {Parkinson disease, late-onset, susceptibility to}, 168600, Multifactorial601517
ATXN3{Parkinson disease, late-onset, susceptibility to}, 168600, Multifactorial; Machado-Joseph disease, 109150607047
ATXN7Spinocerebellar ataxia 7, 164500607640
ATXN8Spinocerebellar ataxia 8, 608768613289
ATXN8OS{Parkinson disease, susceptibility to}, 168600, Multifactorial; Spinocerebellar ataxia 8, 608768603680
AUH3-methylglutaconic aciduria, type I, 250950600529
AURKA{Colon cancer, susceptibility to}, 114500, Somatic mutation603072
AURKCSpermatogenic failure 5, 243060603495
AUTS1{Autism susceptibility 1}, 209850, Multifactorial, Isolated cases209850
AUTS11{Autism susceptibility 11}, 610836610836
AUTS12{Autism susceptibility 12}, 610838610838
AUTS13{Autism susceptibility 13}, 610908610908
AUTS2Intellectual developmental disorder 26, 615834607270
AUTS3{Autism susceptibility 3}, 608049, Multifactorial, Isolated cases608049
AUTS6{Autism susceptibility 6}, 609378609378
AUTS7{Autism susceptibility 7}, 610676610676
AUTS8{Autism susceptibility 8}, 607373, Multifactorial, Isolated cases607373
AVILNephrotic syndrome, type 21, 618594613397
AVPDiabetes insipidus, neurohypophyseal, 125700192340
AVPR2Diabetes insipidus, nephrogenic, 1, 304800, X-linked recessive; Nephrogenic syndrome of inappropriate antidiuresis, 300539, X-linked recessive300538
AVSD1{Atrioventricular septal defect, susceptibility to, 1}, 606215606215
AXIN1Hepatocellular carcinoma, somatic, 114550; Craniometadiaphyseal osteosclerosis with hip dysplasia, 620558; ?Caudal duplication anomaly, 607864603816
AXIN2Colorectal cancer, somatic, 114500; Oligodontia-colorectal cancer syndrome, 608615604025
B2MAmyloidosis, hereditary systemic 6, 620659; Immunodeficiency 43, 241600109700
B3GALNT1[Blood group, P1PK system, P(k) phenotype], 111400; [Blood group, globoside system], 615021603094
B3GALNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181610194
B3GALT6Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Al-Gazali syndrome, 609465615291
B3GAT3Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600606374
B3GLCTPeters-plus syndrome, 261540610308
B4GALNT1Spastic paraplegia 26, 609195601873
B4GALNT2[Blood group, Sid system], 615018; Sd(a) polyagglutination syndrome, 615018111730
B4GALT1Combined low LDL and fibrinogen, 620364; Congenital disorder of glycosylation, type IId, 607091137060
B4GALT7Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070604327
B4GAT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287605517
B6QTL1{Vitamin B6 plasma level QTL 1}, 612957612957
B9D1?Meckel syndrome 9, 614209; Joubert syndrome 27, 617120614144
B9D2?Meckel syndrome 10, 614175; Joubert syndrome 34, 614175611951
BAATBile acid conjugation defect 1, 619232602938
BACH2Immunodeficiency 60 and autoimmunity, 618394605394
BAG3Cardiomyopathy, dilated, 1HH, 613881; Myopathy, myofibrillar, 6, 612954603883
BAG5Cardiomyopathy, dilated, 2F, 619747603885
BANF1Nestor-Guillermo progeria syndrome, 614008603811
BAP1Kury-Isidor syndrome, 619762; Tumor predisposition syndrome 1, 614327; {Uveal melanoma, susceptibility to, 2}, 606661603089
BARD1{Breast cancer, susceptibility to}, 114480, Somatic mutation601593
BAXColorectal cancer, somatic, 114500; T-cell acute lymphoblastic leukemia, somatic, 613065600040
BBIP1Bardet-Biedl syndrome 18, 615995613605
BBS1Bardet-Biedl syndrome 1, 209900, Digenic recessive209901
BBS10Bardet-Biedl syndrome 10, 615987610148
BBS12Bardet-Biedl syndrome 12, 615989610683
BBS2Retinitis pigmentosa 74, 616562; Bardet-Biedl syndrome 2, 615981606151
BBS4Bardet-Biedl syndrome 4, 615982600374
BBS5Bardet-Biedl syndrome 5, 615983603650
BBS7Bardet-Biedl syndrome 7, 615984607590
BBS9Bardet-Biedl syndrome 9, 615986607968
BCAM[Blood group, Lutheran system], 111200; [Blood group, Auberger system], 111200; [Blood group, Lutheran null], 247420612773
BCAP31Deafness, dystonia, and cerebral hypomyelination, 300475, X-linked recessive300398
BCAS3Hengel-Maroofian-Schols syndrome, 619641607470
BCAT2Hypervalinemia and hyperleucine-isoleucinemia, 618850113530
BCC1{Basal cell carcinoma, susceptibility to, 1}, 605462605462
BCC2{Basal cell carcinoma, susceptibility to, 2}, 613058613058
BCC3{Basal cell carcinoma, susceptibility to, 3}, 613059613059
BCC4{Basal cell carcinoma, susceptibility to, 4}, 613061613061
BCC5{Basal cell carcinoma, susceptibility to, 5}, 613062613062
BCC6{Basal cell carcinoma, susceptibility to, 6}, 613063613063
BCHEButyrylcholinesterase deficiency, 617936; {Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936177400
BCKDHAMaple syrup urine disease, type Ia, 248600608348
BCKDHBMaple syrup urine disease, type Ib, 620698248611
BCKDKBranched-chain keto acid dehydrogenase kinase deficiency, 614923614901
BCL10{Lymphoma, follicular, somatic}, 605027; ?Immunodeficiency 37, 616098; {Sezary syndrome, somatic}; {Male germ cell tumor, somatic}, 273300; Lymphoma, MALT, somatic, 137245; {Mesothelioma, somatic}, 156240603517
BCL11ADias-Logan syndrome, 617101606557
BCL11BImmunodeficiency 49, severe combined, 617237; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092606558
BCL2Leukemia/lymphoma, B-cell, 2151430
BCL3Leukemia/lymphoma, B-cell, 3, 109560109560
BCO1?Hypercarotenemia and vitamin A deficiency, 115300605748
BCORMicrophthalmia, syndromic 2, 300166, X-linked dominant300485
BCORL1Shukla-Vernon syndrome, 301029, X-linked recessive300688
BCRLeukemia, chronic myeloid, Philadelphia chromosome positive, somatic, 608232; Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic, 613065151410
BCS1LGRACILE syndrome, 603358; Mitochondrial complex III deficiency, nuclear type 1, 124000; Bjornstad syndrome, 262000603647
BDA1BBrachydactyly, type A1, B, 607004607004
BDETBleeding disorder, east Texas type, 605913605913
BDP1?Deafness 112, 618257607012
BDPLT14Bleeding disorder, platelet-type, 14, 614158614158
BDPLT9Bleeding disorder, platelet-type, 9, 614200614200
BEAN1Spinocerebellar ataxia 31, 117210612051
BEDBornholm eye disease, 300843, X-linked recessive300843
BEST1Macular dystrophy, vitelliform, 2, 153700; ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, 193220; Retinitis pigmentosa-50, 613194; Retinitis pigmentosa, concentric, 613194; Vitreoretinochoroidopathy, 193220; Bestrophinopathy, 611809607854
BET1Muscular dystrophy, congenital, with rapid progression, 254100605456
BFIS1Seizures, benign familial infantile, 1, 601764601764
BFIS4Seizures, benign familial infantile, 4, 612627612627
BFSP1Cataract 33, multiple types, 611391603307
BFSP2Cataract 12, multiple types, 611597603212
BGNMeester-Loeys syndrome, 300989, X-linked; Spondyloepimetaphyseal dysplasia, X-linked, 300106, X-linked recessive301870
BHLHA9?Camptosynpolydactyly, complex, 607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432615416
BHLHE41[Short sleep, familial natural, 1], 612975606200
BICC1{Renal dysplasia, cystic, susceptibility to}, 601331614295
BICD2Spinal muscular atrophy, lower extremity-predominant, 2B, 618291; Spinal muscular atrophy, lower extremity-predominant, 2A, 615290609797
BICRACoffin-Siris syndrome 12, 619325605690
BIN1Centronuclear myopathy 2, 255200601248
BLKMaturity-onset diabetes of the young, type 11, 613375191305
BLMBloom syndrome, 210900604610
BLNK?Agammaglobulinemia 4, 613502604515
BLOC1S3Hermansky-Pudlak syndrome 8, 614077609762
BLOC1S5Hermansky-Pudlak syndrome 11, 619172607289
BLOC1S6Hermansky-Pudlak syndrome 9, 614171604310
BLTP1Alkuraya-Kucinskas syndrome, 617822611565
BLVRAHyperbiliverdinemia, 614156109750
BMIQ1[Body mass index QTL1], 606641606641
BMIQ13[Body mass index QTL13], 612459612459
BMIQ15[Body mass index QTL 15], 612967612967
BMIQ2[Body mass index QTL2], 606643606643
BMIQ3[Body mass index QTL3], 607446607446
BMIQ5[Body mass index QTL5], 608558608558
BMIQ6[Body mass index QTL6], 608559608559
BMIQ7{Obesity, susceptibility to, BMIQ7}, 608410608410
BMIQ8{Obesity, susceptibility to, BMIQ8}, 603188603188
BMND10[Bone mineral density QTL 10], 612113612113
BMND11[Bone mineral density QTL 11], 612114612114
BMND13[Bone mineral density QTL 13], 612727612727
BMND14[Bone mineral density QTL 14], 612728612728
BMND2[Bone mineral density QTL 2], 605833605833
BMND3[Bone mineral density QTL 3], 606928606928
BMND4[Bone mineral density QTL 4], 300536300536
BMND5[Bone mineral density QTL 5], 609354609354
BMND6[Bone mineral density QTL 6], 609876609876
BMND7{Osteoporosis}, 166710611738
BMND8{Osteoporosis}, 166710611739
BMND9[Bone mineral density QTL 9], 612110612110
BMP1Osteogenesis imperfecta, type XIII, 614856112264
BMP15Premature ovarian failure 4, 300510, X-linked; Ovarian dysgenesis 2, 300510, X-linked300247
BMP2Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, 617877; Brachydactyly, type A2, 112600; {HFE hemochromatosis, modifier of}, 235200112261
BMP4Orofacial cleft 11, 600625; Microphthalmia, syndromic 6, 607932112262
BMP6{Iron overload, susceptibility to}, 620121112266
BMPERDiaphanospondylodysostosis, 608022608699
BMPR1APolyposis syndrome, hereditary mixed, 2, 610069; Polyposis, juvenile intestinal, 174900601299
BMPR1BAcromesomelic dysplasia 3, 609441; Brachydactyly, type A2, 112600; Brachydactyly, type A1, D, 616849603248
BMPR2Pulmonary hypertension, familial primary, 1, with or without HHT, 178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600; Pulmonary venoocclusive disease 1, 265450600799
BMS1?Aplasia cutis congenita, nonsyndromic, 107600611448
BNC1?Premature ovarian failure 16, 618723601930
BNC2Lower urinary tract obstruction, congenital, 618612608669
BOLA3Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299613183
BOS2Branchiootic syndrome 2, 120502120502
BPGMErythrocytosis, familial, 8, 222800613896
BPNT2Chondrodysplasia with joint dislocations, GPAPP type, 614078614010
BPPVVestibulopathy, familial, 193007193007
BPTFNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755; {Kaposi sarcoma, susceptibility to}, 148000601819
BRAFMelanoma, malignant, somatic, 155600; LEOPARD syndrome 3, 613707; Cardiofaciocutaneous syndrome, 115150; Adenocarcinoma of lung, somatic, 211980; Noonan syndrome 7, 613706; Colorectal cancer, somatic, 114500; Nonsmall cell lung cancer, somatic, 211980164757
BRAT1Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056; Rigidity and multifocal seizure syndrome, lethal neonatal, 614498614506
BRCA1Fanconi anemia, complementation group S, 617883; {Breast-ovarian cancer, familial, 1}, 604370, Multifactorial; {Pancreatic cancer, susceptibility to, 4}, 614320113705
BRCA2Fanconi anemia, complementation group D1, 605724; {Glioblastoma 3}, 613029; {Medulloblastoma}, 155255, Somatic mutation; {Prostate cancer}, 176807, Somatic mutation; {Breast-ovarian cancer, familial, 2}, 612555; {Breast cancer, male, susceptibility to}, 114480, Somatic mutation; {Pancreatic cancer 2}, 613347; Wilms tumor, 194070, Somatic mutation600185
BRD4Cornelia de Lange syndrome 6, 620568608749
BRDT?Spermatogenic failure 21, 617644602144
BRF1Cerebellofaciodental syndrome, 616202604902
BRIP1Fanconi anemia, complementation group J, 609054; {Breast cancer, early-onset, susceptibility to}, 114480, Somatic mutation605882
BRPF1Intellectual developmental disorder with dysmorphic facies and ptosis, 617333602410
BRV2Vertigo, benign recurrent, 2, 613106613106
BRWD1Ciliary dyskinesia, primary, 51, 620438617824
BRWD3Intellectual developmental disorder, X-linked 93, 300659, X-linked recessive300553
BSCL2Lipodystrophy, congenital generalized, type 2, 269700; Neuronopathy, distal hereditary motor 13, 619112; Silver spastic paraplegia syndrome, 270685; Encephalopathy, progressive, with or without lipodystrophy, 615924606158
BSG[Blood group, OK], 111380109480
BSNDSensorineural deafness with mild renal dysfunction, 602522; Bartter syndrome, type 4a, 602522606412
BSZQTL{Bone size QTL}, 609656609656
BSZQTL2{Bone size QTL}, 609657609657
BSZQTL3[Bone size quantitative trait locus 3], 610649610649
BTDBiotinidase deficiency, 253260609019
BTG4Oocyte/zygote/embryo maturation arrest 8, 619009605673
BTKAgammaglobulinemia, X-linked 1, 300755, X-linked recessive; Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200, X-linked recessive300300
BTNL2{Sarcoidosis, susceptibility to, 2}, 612387606000
BUB1Colorectal cancer with chromosomal instability, somatic, 114500; Microcephaly 30, primary, 620183602452
BUB1BColorectal cancer, somatic, 114500; [Premature chromatid separation trait], 176430; Mosaic variegated aneuploidy syndrome 1, 257300602860
BULN{Bulimia nervosa, susceptibility to}, 607499, Multifactorial607499
BWQTL2[Birth weight QTL 2], 613459613459
BWQTL4[Birth weight QTL4], 615192615192
C12orf57Temtamy syndrome, 218340615140
C14orf39Spermatogenic failure 52, 619202; ?Premature ovarian failure 18, 619203617307
C18orf32?Glycosylphosphatidylinositol biosynthesis defect 25, 619985619979
C19orf12Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, 615043614297
C1GALT1C1Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, 301110, X-linked recessive; Tn polyagglutination syndrome, somatic, 300622300611
C1QAC1q deficiency 1, 613652120550
C1QBC1q deficiency 2, 620321120570
C1QBPCombined oxidative phosphorylation deficiency 33, 617713601269
C1QCC1q deficiency 3, 620322120575
C1QTNF5Retinal degeneration, late-onset, 605670608752
C1REhlers-Danlos syndrome, periodontal type, 1, 130080613785
C1SC1s deficiency, 613783; Ehlers-Danlos syndrome, periodontal type, 2, 617174120580
C2C2 deficiency, 217000; {Macular degeneration, age-related, 14, reduced risk of}, 615489, Digenic dominant613927
C2CD3Orofaciodigital syndrome XIV, 615948615944
C2CD6?Spermatogenic failure 68, 619805619776
C2orf69Combined oxidative phosphorylation deficiency 53, 619423619219
C3C3 deficiency, 613779; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925; {Macular degeneration, age-related, 9}, 611378120700
C3orf52Hypotrichosis 15, 620177611956
C4A[Blood group, Rodgers], 614374; C4a deficiency, 614380120810
C4BC4B deficiency, 614379120820
C5C5 deficiency, 609536; [Eculizumab, poor response to], 615749120900
C6C6 deficiency, 612446217050
C7C7 deficiency, 610102217070
C8AC8 deficiency, type I, 613790120950
C8BC8 deficiency, type II, 613789120960
C9C9 deficiency, 613825; {Macular degeneration, age-related, 15, susceptibility to}, 615591120940
C9orf72Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550614260
CA12Hyperchlorhidrosis, isolated, 143860603263
CA2Osteopetrosis 3, with renal tubular acidosis, 259730611492
CA5AHyperammonemia due to carbonic anhydrase VA deficiency, 615751114761
CA8Spinocerebellar ataxia 34, 613227114815
CABP2Deafness 93, 614899607314
CABP4Cone-rod synaptic disorder, congenital nonprogressive, 610427608965
CACNA1ASpinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500; Developmental and epileptic encephalopathy 42, 617106; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; Migraine, familial hemiplegic, 1, 141500601011
CACNA1BNeurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497601012
CACNA1CTimothy syndrome, 601005; Long QT syndrome 8, 618447; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, 620029; Brugada syndrome 3, 611875114205
CACNA1DPrimary aldosteronism, seizures, and neurologic abnormalities, 615474; Sinoatrial node dysfunction and deafness, 614896114206
CACNA1EDevelopmental and epileptic encephalopathy 69, 618285601013
CACNA1FCone-rod dystrophy, X-linked, 3, 300476, X-linked recessive; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071, X-linked; Aland Island eye disease, 300600, X-linked300110
CACNA1GSpinocerebellar ataxia 42, 616795; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087604065
CACNA1H{Epilepsy, childhood absence, susceptibility to, 6}, 611942; Hyperaldosteronism, familial, type IV, 617027; {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942607904
CACNA1INeurodevelopmental disorder with speech impairment and with or without seizures, 620114608230
CACNA1S{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580; Congenital myopathy 18 due to dihydropyridine receptor defect, 620246; Hypokalemic periodic paralysis, type 1, 170400; {Malignant hyperthermia susceptibility 5}, 601887114208
CACNA2D1Developmental and epileptic encephalopathy 110, 620149114204
CACNA2D2Cerebellar atrophy with seizures and variable developmental delay, 618501607082
CACNA2D4Retinal cone dystrophy 4, 610478608171
CACNB2Brugada syndrome 4, 611876600003
CACNB4{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682; ?Episodic ataxia, type 5, 613855; {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682601949
CACNG2?Intellectual developmental disorder 10, 614256602911
CADDevelopmental and epileptic encephalopathy 50, 616457114010
CADM3Charcot-Marie-Tooth disease, axonal, type 2FF, 619519609743
CALCR{Osteoporosis, postmenopausal, susceptibility}, 166710114131
CALCRL?Lymphatic malformation 8, 618773114190
CALM1Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916; Long QT syndrome 14, 616247114180
CALM2Long QT syndrome 15, 616249114182
CALM3Long QT syndrome 16, 618782; ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782114183
CALRMyelofibrosis, somatic, 254450; Thrombocythemia, somatic, 187950109091
CAMK2AIntellectual developmental disorder 53, 617798; ?Intellectual developmental disorder 63, 618095114078
CAMK2BIntellectual developmental disorder 54, 617799607707
CAMK2GIntellectual developmental disorder 59, 618522602123
CAMLG?Congenital disorder of glycosylation, type IIz, 620201601118
CAMPD1Camptodactyly 1, 114200114200
CAMSAP1Cortical dysplasia, complex, with other brain malformations 12, 620316613774
CAMTA1Cerebellar dysfunction with variable cognitive and behavioral abnormalities, 614756611501
CANDF1Candidiasis, familial, 1, 114580114580
CANDN1Candidiasis, familial, 3, 607644607644
CANT1Desbuquois dysplasia 1, 251450; Epiphyseal dysplasia, multiple, 7, 617719613165
CAP2Cardiomyopathy, dilated, 2I, 620462618385
CAPN1Spastic paraplegia 76, 616907114220
CAPN10{Diabetes mellitus, noninsulin-dependent 1}, 601283605286
CAPN15Oculogastrointestinal neurodevelopmental syndrome, 619318603267
CAPN3Muscular dystrophy, limb-girdle 1, 253600; Muscular dystrophy, limb-girdle 4, 618129114240
CAPN5Vitreoretinopathy, neovascular inflammatory, 193235602537
CAPNS1Pulmonary hypertension, primary, 6, 620777114170
CAPRIN1Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, 620782; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, 620636601178
CARD10?Immunodeficiency 89 and autoimmunity, 619632607209
CARD11B-cell expansion with NFKB and T-cell anergy, 616452; Immunodeficiency 11B with atopic dermatitis, 617638; Immunodeficiency 11A, 615206607210
CARD14Psoriasis 2, 602723; Pityriasis rubra pilaris, 173200607211
CARD8?Inflammatory bowel disease (Crohn disease) 30, 619079609051
CARD9Immunodeficiency 103, susceptibility to fungal infection, 212050607212
CARMIL2Immunodeficiency 58, 618131610859
CARS1Microcephaly, developmental delay, and brittle hair syndrome, 618891123859
CARS2Combined oxidative phosphorylation deficiency 27, 616672612800
CARTPT{?Obesity, susceptibility to}, 601665, Multifactorial602606
CASKIntellectual developmental disorder, with or without nystagmus, 300422, X-linked recessive; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, 300749, X-linked; FG syndrome 4, 300422, X-linked recessive300172
CASP10Autoimmune lymphoproliferative syndrome, type II, 603909; Gastric cancer, somatic, 613659; Lymphoma, non-Hodgkin, somatic, 605027601762
CASP12{Sepsis, susceptibility to}608633
CASP14Ichthyosis, congenital 12, 617320605848
CASP2Intellectual developmental disorder 80, with variant lissencephaly, 620653600639
CASP8{Breast cancer, protection against}, 114480, Somatic mutation; ?Caspase 8 lymphadenopathy syndrome, 607271; Hepatocellular carcinoma, somatic, 114550; {Lung cancer, protection against}, 211980, Somatic mutation601763
CASQ1Myopathy, vacuolar, with CASQ1 aggregates, 616231114250
CASQ2Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938114251
CASRHypocalcemia, with Bartter syndrome, 601198; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, 601198; Hypocalciuric hypercalcemia, type I, 145980; {?Epilepsy idiopathic generalized, susceptibility to, 8}, 612899601199
CASTPeeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295114090
CATAcatalasemia, 614097115500
CATIP?Spermatogenic failure 54, 619379619387
CATSPER1Spermatogenic failure 7, 612997606389
CAV1Lipodystrophy, congenital generalized, type 3, 612526; Pulmonary hypertension, primary, 3, 615343; Lipodystrophy, familial partial, type 7, 606721601047
CAV3Myopathy, distal, Tateyama type, 614321; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600, Digenic dominant; Rippling muscle disease 2, 606072; Long QT syndrome 9, 611818601253
CAVIN1Lipodystrophy, congenital generalized, type 4, 613327603198
CBFBCleidocranial dysplasia 2, 620099121360
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563; ?Juvenile myelomonocytic leukemia, 607785, Somatic mutation165360
CBLBAutoimmune disease, multisystem, infantile-onset, 3, 620430604491
CBLIFIntrinsic factor deficiency, 261000609342
CBSThrombosis, hyperhomocysteinemic, 236200; Homocystinuria, B6-responsive and nonresponsive types, 236200613381
CBX2?46XY sex reversal 5, 613080602770
CC2D1AIntellectual developmental disorder 3, 608443610055
CC2D2ACOACH syndrome 2, 619111; Retinitis pigmentosa 93, 619845; Meckel syndrome 6, 612284; Joubert syndrome 9, 612285612013
CCA1Cataract 7, 115660115660
CCAL1Chondrocalcinosis with early-onset osteoarthritis, 600668600668
CCBE1Hennekam lymphangiectasia-lymphedema syndrome 1, 235510612753
CCCSXCerebral-cerebellar-coloboma syndrome, X-linked, 300864, X-linked recessive300864
CCDC103Ciliary dyskinesia, primary, 17, 614679614677
CCDC115Congenital disorder of glycosylation, type IIo, 616828613734
CCDC134Osteogenesis imperfecta, type XXII, 619795618788
CCDC146Spermatogenic failure 94, 620850619829
CCDC174Hypotonia, infantile, with psychomotor retardation, 616816616735
CCDC22Ritscher-Schinzel syndrome 2, 300963, X-linked recessive300859
CCDC26{Glioma susceptibility 7}, 613032613040
CCDC28B{Bardet-Biedl syndrome 1, modifier of}, 209900, Digenic recessive610162
CCDC32Cardiofacioneurodevelopmental syndrome, 619123618941
CCDC34Spermatogenic failure 76, 620084612324
CCDC39Ciliary dyskinesia, primary, 14, 613807613798
CCDC40Ciliary dyskinesia, primary, 15, 613808613799
CCDC47Trichohepatoneurodevelopmental syndrome, 618268618260
CCDC50?Deafness 44, 607453611051
CCDC62?Spermatogenic failure 67, 619803613481
CCDC65Ciliary dyskinesia, primary, 27, 615504611088
CCDC78?Centronuclear myopathy 4, 614807614666
CCDC83-M syndrome 3, 614205614145
CCDC88A?PEHO syndrome-like, 617507609736
CCDC88C?Spinocerebellar ataxia 40, 616053; Hydrocephalus, congenital, 1, 236600611204
CCINSpermatogenic failure 91, 620838603960
CCL11{Asthma, susceptibility to}, 600807; {HIV1, resistance to}, 609423601156
CCL2{Mycobacterium tuberculosis, susceptibility to}, 607948; {HIV-1, resistance to}, 609423; {Coronary artery disease, modifier of}; {Spina bifida, susceptibility to}, 182940158105
CCL3{HIV infection, resistance to}, 609423182283
CCL3L1{HIV/AIDS, susceptibility to}, 609423601395
CCL5{HIV-1 disease, rapid progression of}, 609423; {HIV-1 disease, delayed progression of}, 609423187011
CCM2Cerebral cavernous malformations-2, 603284607929
CCN6Progressive pseudorheumatoid dysplasia, 208230603400
CCND1{von Hippel-Lindau syndrome, modifier of}, 193300; {Colorectal cancer, susceptibility to}, 114500, Somatic mutation; {Multiple myeloma, susceptibility to}, 254500, Somatic mutation168461
CCND2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938123833
CCNFFrontotemporal dementia and/or amyotrophic lateral sclerosis 5, 619141600227
CCNK?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147603544
CCNOCiliary dyskinesia, primary, 29, 615872607752
CCNQSTAR syndrome, 300707, X-linked dominant300708
CCR2{HIV infection, susceptibility/resistance to}, 609423; Polycystic lung disease, 219600601267
CCR5{HIV infection, susceptibility/resistance to}, 609423; {Diabetes mellitus, insulin-dependent, 22}, 612522; {Hepatitis C virus, resistance to}, 609532; {West nile virus, susceptibility to}, 610379601373
CCT5?Neuropathy, hereditary sensory, with spastic paraplegia, 256840610150
CCVCataract 8, multiple types, 115665115665
CD151[Blood group, Raph], 179620; Epidermolysis bullosa simplex 7, with nephropathy and deafness, 609057602243
CD164?Deafness 66, 616969603356
CD19Immunodeficiency, common variable, 3, 613493107265
CD207[?Birbeck granule deficiency], 613393604862
CD209{HIV type 1, susceptibility to}, 609423; {Mycobacterium tuberculosis, susceptibility to}, 607948; {Dengue fever, protection against}, 614371604672
CD244{Rheumatoid arthritis, susceptibility to}, 180300605554
CD247?Immunodeficiency 25, 610163186780
CD27Lymphoproliferative syndrome 2, 615122186711
CD28?Immunodeficiency 123 with HPV-related verrucosis, 620901186760
CD2APGlomerulosclerosis, focal segmental, 3, 607832604241
CD320Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646606475
CD36Platelet glycoprotein IV deficiency, 608404; {Coronary heart disease, susceptibility to, 7}, 610938; {Malaria, cerebral, susceptibility to}, 611162; {Malaria, cerebral, reduced risk of}, 611162173510
CD3DImmunodeficiency 19, severe combined, 615617186790
CD3EImmunodeficiency 18, 615615; Immunodeficiency 18, SCID variant, 615615186830
CD3GImmunodeficiency 17, CD3 gamma deficient, 615607186740
CD4Immunodeficiency 79, 619238; OKT4 epitope deficiency, 613949186940
CD40Immunodeficiency with hyper-IgM, type 3, 606843109535
CD40LGImmunodeficiency, X-linked, with hyper-IgM, 308230, X-linked recessive300386
CD44[Blood group, Indian system], 609027107269
CD46{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922120920
CD55[Blood group Cromer], 613793; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300125240
CD59Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300107271
CD70Lymphoproliferative syndrome 3, 618261602840
CD79AAgammaglobulinemia 3, 613501112205
CD79BAgammaglobulinemia 6, 612692147245
CD81Immunodeficiency, common variable, 6, 613496186845
CD8AImmunodeficiency 116, 608957186910
CD96C syndrome, 211750606037
CDAN1Dyserythropoietic anemia, congenital, type Ia, 224120607465
CDC14ADeafness 32, with or without immotile sperm, 608653603504
CDC20Oocyte/zygote/embryo maturation arrest 14, 620276603618
CDC40?Pontocerebellar hypoplasia, type 15, 619302605585
CDC42Takenouchi-Kosaki syndrome, 616737116952
CDC42BPBChilton-Okur-Chung neurodevelopmental syndrome, 619841614062
CDC45Meier-Gorlin syndrome 7, 617063603465
CDC6?Meier-Gorlin syndrome 5, 613805602627
CDC73Hyperparathyroidism, familial primary, 145000; Parathyroid adenoma with cystic changes, 145001; Parathyroid carcinoma, 608266; Hyperparathyroidism-jaw tumor syndrome, 145001607393
CDCA7Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910609937
CDH1Ovarian cancer, somatic, 167000; Blepharocheilodontic syndrome 1, 119580; Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, 137215; Endometrial carcinoma, somatic, 608089; Breast cancer, lobular, somatic, 114480192090
CDH11Teebi hypertelorism syndrome 2, 619736; Elsahy-Waters syndrome, 211380600023
CDH15Intellectual developmental disorder 3, 612580114019
CDH2Arrhythmogenic right ventricular dysplasia 14, 618920; ?Attention deficit-hyperactivity disorder 8, 619957; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, 618929114020
CDH23Usher syndrome, type 1D, 601067, Digenic recessive; {Pituitary adenoma 5, multiple types}, 617540; Usher syndrome, type 1D/F digenic, 601067, Digenic recessive; Deafness 12, 601386605516
CDH3Hypotrichosis, congenital, with juvenile macular dystrophy, 601553; Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280114021
CDHR1Macular dystrophy, retinal, 613660; Cone-rod dystrophy 15, 613660; Retinitis pigmentosa 65, 613660609502
CDIN1Dyserythropoietic anemia, congenital, type Ib, 615631615626
CDK10Al Kaissi syndrome, 617694603464
CDK13Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360603309
CDK19Developmental and epileptic encephalopathy 87, 618916614720
CDK4{Melanoma, cutaneous malignant, 3}, 609048123829
CDK5?Lissencephaly 7 with cerebellar hypoplasia, 616342123831
CDK5RAP2Microcephaly 3, primary, 604804608201
CDK6?Microcephaly 12, primary, 616080603368
CDK8Intellectual developmental disorder with hypotonia and behavioral abnormalities, 618748603184
CDKL5Developmental and epileptic encephalopathy 2, 300672, X-linked dominant300203
CDKN1BMultiple endocrine neoplasia, type IV, 610755600778
CDKN1CIMAGE syndrome, 614732; Beckwith-Wiedemann syndrome, 130650600856
CDKN2A{Melanoma and neural system tumor syndrome}, 155755; {Melanoma, cutaneous malignant, 2}, 155601; {Melanoma-pancreatic cancer syndrome}, 606719600160
CDONHoloprosencephaly 11, 614226608707
CDSNHypotrichosis 2, 146520; Peeling skin syndrome 1, 270300602593
CDT1Meier-Gorlin syndrome 4, 613804605525
CEACAM16Deafness 4B, 614614; Deafness 113, 618410614591
CEBPALeukemia, acute myeloid, somatic, 601626; ?Leukemia, acute myeloid, 601626, Somatic mutation116897
CEBPE?Immunodeficiency 108 with autoinflammation, 260570; Specific granule deficiency, 245480600749
CELMaturity-onset diabetes of the young, type VIII, 609812114840
CELA2AAbdominal obesity-metabolic syndrome 4, 618620609443
CELF2Developmental and epileptic encephalopathy 97, 619561602538
CELIAC10{Celiac disease, susceptibility to, 10}, 612008612008
CELIAC11{Celiac disease, susceptibility to, 11}, 612009612009
CELIAC12{Celiac disease, susceptibility to, 12}, 612010612010
CELIAC13{Celiac disease, susceptibility to, 13}, 612011612011
CELIAC2{Celiac disease, susceptibility to, 2}, 609754609754
CELIAC5{Celiac disease, susceptibility to, 5}, 607202607202
CELIAC6{Autoimmune disease, susceptibility to, 5}, 611598; {Celiac disease, susceptibility to, 6}, 611598611598
CELIAC7{Celiac disease, susceptibility to, 7}, 612005612005
CELIAC8{Celiac disease, susceptibility to, 8}, 612006612006
CELIAC9{Celiac disease, susceptibility to, 9}, 612007612007
CELSR1Lymphatic malformation 9, 619319604523
CENATAC?Mosaic variegated aneuploidy syndrome 4, 620153620142
CENPE?Microcephaly 13, primary, 616051117143
CENPFStromme syndrome, 243605600236
CENPJMicrocephaly 6, primary, 608393; ?Seckel syndrome 4, 613676609279
CENPT?Short stature and microcephaly with genital anomalies, 618702611510
CEP104Joubert syndrome 25, 616781; Intellectual developmental disorder 77, 619988616690
CEP112Spermatogenic failure 44, 619044618980
CEP120Short-rib thoracic dysplasia 13 with or without polydactyly, 616300; Joubert syndrome 31, 617761613446
CEP135Microcephaly 8, primary, 614673611423
CEP152Microcephaly 9, primary, 614852; Seckel syndrome 5, 613823613529
CEP164Nephronophthisis 15, 614845614848
CEP19Morbid obesity and spermatogenic failure, 615703615586
CEP250Cone-rod dystrophy and hearing loss 2, 618358609689
CEP290Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Meckel syndrome 4, 611134610142
CEP295Seckel syndrome 11, 620767617728
CEP41Joubert syndrome 15, 614464610523
CEP43Myeloproliferative disorder, 605392605392
CEP55Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500610000
CEP57Mosaic variegated aneuploidy syndrome 2, 614114607951
CEP63?Seckel syndrome 6, 614728614724
CEP78Cone-rod dystrophy and hearing loss, 617236617110
CEP83Nephronophthisis 18, 615862615847
CEP85LLissencephaly 10, 618873618865
CERKLRetinitis pigmentosa 26, 608380608381
CERS1Epilepsy, progressive myoclonic, 8, 616230606919
CERS3Ichthyosis, congenital 9, 615023615276
CERT1Intellectual developmental disorder 34, 616351604677
CES1Drug metabolism, altered, CES1-related, 618057114835
CETP[High density lipoprotein cholesterol level QTL 10], 143470; Hyperalphalipoproteinemia, 143470118470
CFAP251Spermatogenic failure 33, 618152618146
CFAP298Ciliary dyskinesia, primary, 26, 615500615494
CFAP300Ciliary dyskinesia, primary, 38, 618063618058
CFAP410Retinal dystrophy with macular staphyloma, 617547; Spondylometaphyseal dysplasia, axial, 602271603191
CFAP418Retinitis pigmentosa 64, 614500; Cone-rod dystrophy 16, 614500; Bardet-Biedl syndrome 21, 617406614477
CFAP43Hydrocephalus, normal pressure, 1, 236690; Spermatogenic failure 19, 617592617558
CFAP44Spermatogenic failure 20, 617593617559
CFAP45Heterotaxy, visceral, 11, autosomal, with male infertility, 619608605152
CFAP47Spermatogenic failure, X-linked 3, 301059, X-linked recessive301057
CFAP52Heterotaxy, visceral, 10, autosomal, with male infertility, 619607609804
CFAP53Heterotaxy, visceral, 6, 614779614759
CFAP57Spermatogenic failure 95, 620917614259
CFAP58Spermatogenic failure 49, 619144619129
CFAP61Spermatogenic failure 84, 620409620381
CFAP65Spermatogenic failure 40, 618664614270
CFAP69Spermatogenic failure 24, 617959617949
CFAP70?Spermatogenic failure 41, 618670618661
CFAP74Ciliary dyskinesia, primary, 49, without situs inversus, 620197620187
CFAP91Spermatogenic failure 51, 619177609910
CFB?Complement factor B deficiency, 615561; {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924; {Macular degeneration, age-related, 14, reduced risk of}, 615489, Digenic dominant138470
CFC1Heterotaxy, visceral, 2, autosomal, 605376605194
CFDComplement factor D deficiency, 613912134350
CFH{Macular degeneration, age-related, 4}, 610698; Basal laminar drusen, 126700; Complement factor H deficiency, 609814; {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400134370
CFHR1{Macular degeneration, age-related, reduced risk of}, 603075; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400134371
CFHR3{Macular degeneration, age-related, reduced risk of}, 603075; {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400605336
CFHR5Nephropathy due to CFHR5 deficiency, 614809608593
CFI{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923; {Macular degeneration, age-related, 13, susceptibility to}, 615439; Complement factor I deficiency, 610984217030
CFL2Nemaline myopathy 7, 610687601443
CFM1{Meconium ileus in cystic fibrosis, susceptibility to}, 603855603855
CFPProperdin deficiency, X-linked, 312060, X-linked recessive300383
CFSS?Craniofacioskeletal syndrome, 300712, X-linked dominant, X-linked recessive300712
CFTDXMyopathy, congenital, with fiber-type disproportion, X-linked, 300580, X-linked dominant300580
CFTRCystic fibrosis, 219700; Sweat chloride elevation without CF; Congenital bilateral absence of vas deferens, 277180; {Pancreatitis, hereditary}, 167800; {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400; {Hypertrypsinemia, neonatal}602421
CGF1[Social cognition], 300082, X-linked300082
CHAMP1Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, 616579616327
CHATMyasthenic syndrome, congenital, 6, presynaptic, 254210118490
CHCHD10?Myopathy, isolated mitochondrial, 616209; Spinal muscular atrophy, Jokela type, 615048; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911615903
CHCHD2Parkinson disease 22, 616710616244
CHD1Pilarowski-Bjornsson syndrome, 617682602118
CHD2Developmental and epileptic encephalopathy 94, 615369602119
CHD3Snijders Blok-Campeau syndrome, 618205602120
CHD4Sifrim-Hitz-Weiss syndrome, 617159603277
CHD5Parenti-Mignot neurodevelopmental syndrome, 619873610771
CHD7Hypogonadotropic hypogonadism 5 with or without anosmia, 612370; CHARGE syndrome, 214800608892
CHD8Intellectual developmental disorder with autism and macrocephaly, 615032610528
CHDS1{Coronary heart disease, susceptibility to}, 607339607339
CHDS2{Coronary heart disease, susceptibility to, 2}, 608316608316
CHDS3{Coronary heart disease, susceptibility to, 3}, 300464300464
CHDS4{Coronary heart disease, susceptibility to, 4}, 608318608318
CHDS8{Coronary heart disease, susceptibility to, 8}, 611139611139
CHDS9{Coronary heart disease, susceptibility to, 9}, 612030612030
CHDT3Congenital heart defects, multiple types, 3, 614954614954
CHEK1Oocyte/zygote/embryo maturation arrest 21, 620610603078
CHEK2Prostate cancer, somatic, 176807; Osteosarcoma, somatic, 259500; Tumor predisposition syndrome 4, breast/prostate/colorectal, 609265604373
CHI3L1{Asthma-related traits, susceptibility to, 7}, 611960; {Schizophrenia, susceptibility to}, 181500601525
CHIC2{Leukemia, acute myeloid}, 601626, Somatic mutation604332
CHIT1[Chitotriosidase deficiency], 614122600031
CHKANeurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, 620023118491
CHKBMuscular dystrophy, congenital, megaconial type, 602541612395
CHMChoroideremia, 303100, X-linked300390
CHMP1APontocerebellar hypoplasia, type 8, 614961164010
CHMP2BFrontotemporal dementia and/or amyotrophic lateral sclerosis 7, 600795609512
CHMP4BCataract 31, multiple types, 605387610897
CHN1Duane retraction syndrome 2, 604356118423
CHP1?Spastic ataxia 9, 618438606988
CHRDL1Megalocornea 1, X-linked, 309300, X-linked recessive300350
CHRM3Prune belly syndrome, 100100118494
CHRNA1Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Multiple pterygium syndrome, lethal type, 253290100690
CHRNA2Epilepsy, nocturnal frontal lobe, type 4, 610353118502
CHRNA3{Lung cancer susceptibility 2}, 612052; Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800118503
CHRNA4{Nicotine addiction, susceptibility to}, 188890; Epilepsy, nocturnal frontal lobe, 1, 600513118504
CHRNA5{Nicotine dependence, susceptibility to}, 612052; {Lung cancer susceptibility 2}, 612052118505
CHRNB1?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313100710
CHRNB2Epilepsy, nocturnal frontal lobe, 3, 605375118507
CHRND?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 3B, fast-channel, 616322; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321100720
CHRNEMyasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, congenital, 4B, fast-channel, 616324100725
CHRNGMultiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000100730
CHST11?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, 618167610128
CHST14Ehlers-Danlos syndrome, musculocontractural type 1, 601776608429
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095603799
CHST6Macular corneal dystrophy, 217800605294
CHSY1Temtamy preaxial brachydactyly syndrome, 605282608183
CHUK?Popliteal pterygium syndrome, Bartsocas-Papas type 2, 619339; ?Cocoon syndrome, 613630600664
CIAO1Multiple mitochondrial dysfunctions syndrome 10, 620960604333
CIB1{Epidermodysplasia verruciformis, susceptibility to, 3}, 618267602293
CIB2Deafness 48, 609439; Usher syndrome, type IJ, 614869605564
CIBAR1?Polydactyly, postaxial, type A9, 618219617273
CICIntellectual developmental disorder 45, 617600612082
CIDEC?Lipodystrophy, familial partial, type 5, 615238612120
CIHL{?Hearing loss, cisplatin-induced, susceptibility to}, 613290613290
CIITA{Rheumatoid arthritis, susceptibility to}, 180300; MHC class II deficiency 1, 209920600005
CILD4Ciliary dyskinesia, primary, 4, 608646608646
CILD8Ciliary dyskinesia, primary, 8, 612274612274
CILK1{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924; Endocrine-cerebroosteodysplasia, 612651612325
CILP{Lumbar disc disease, susceptibility to}, 603932603489
CIMTCarotid intimal medial thickness, 608447608447
CINN[Cinnamon odor, pleasantness of], 611109611109
CIROPHeterotaxy, visceral, 12, autosomal, 619702619703
CISD2Wolfram syndrome 2, 604928611507
CISH{Malaria, susceptibility to}, 611162; {Bacteremia, susceptibility to}, 614383; {Tuberculosis, susceptibility to}, 607948602441
CITMicrocephaly 17, primary, 617090605629
CITED2Atrial septal defect 8, 614433; Ventricular septal defect 2, 614431602937
CKAP2LFilippi syndrome, 272440616174
CKBE[Creatine kinase, brain type, ectopic expression of], 123270123270
CLA3Spinocerebellar ataxia 6, 608029608029
CLCC1Retinitis pigmentosa 32, 609913617539
CLCF1Cold-induced sweating syndrome 2, 610313607672
CLCN1Myotonia congenita, recessive, 255700; Myotonia congenita, dominant, 160800; Myotonia levior, 160800118425
CLCN2Leukoencephalopathy with ataxia, 615651; Hyperaldosteronism, familial, type II, 605635; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628600570
CLCN3Neurodevelopmental disorder with seizures and brain abnormalities, 619517; Neurodevelopmental disorder with hypotonia and brain abnormalities, 619512600580
CLCN4Raynaud-Claes syndrome, 300114, X-linked dominant302910
CLCN5Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990, X-linked recessive; Hypophosphatemic rickets, 300554, X-linked recessive; Dent disease 1, 300009, X-linked recessive; Nephrolithiasis, type I, 310468, X-linked recessive300008
CLCN6Ceroid lipofuscinosis, neuronal, 15, 619173602726
CLCN7Hypopigmentation, organomegaly, and delayed myelination and development, 618541; Osteopetrosis 4, 611490; Osteopetrosis 2, 166600602727
CLCNKABartter syndrome, type 4b, digenic, 613090, Digenic recessive602024
CLCNKBBartter syndrome, type 3, 607364; Bartter syndrome, type 4b, digenic, 613090, Digenic recessive602023
CLDN1Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626603718
CLDN10HELIX syndrome, 617671617579
CLDN11Leukodystrophy, hypomyelinating, 22, 619328601326
CLDN14Deafness 29, 614035605608
CLDN16Hypomagnesemia 3, renal, 248250603959
CLDN19Hypomagnesemia 5, renal, with ocular involvement, 248190610036
CLDN2?Azoospermia, obstructive, with nephrolithiasis, 301060, X-linked recessive300520
CLDN9Deafness 116, 619093615799
CLEC1A{Aspergillosis, susceptibility to}, 614079606782
CLEC3BMacular dystrophy, retinal, 4, 619977187520
CLEC7ACandidiasis, familial, 4, 613108; {Aspergillosis, susceptibility to}, 614079606264
CLIC5?Deafness 103, 616042607293
CLLS1{Leukemia, chronic lymphocytic, susceptibility to, 1}, 609630609630
CLLS2{Leukemia, chronic lymphocytic, susceptibility to, 2}, 109543109543
CLLS3{Leukemia, chronic lymphocytic, susceptibility to, 3}, 612557612557
CLLS4{Leukemia, chronic lymphocytic susceptibility to, 4}, 612558612558
CLLS5{Leukemia, chronic lymphocytic susceptibility to, 5}, 612559612559
CLMPCongenital short bowel syndrome, 615237611693
CLN3Ceroid lipofuscinosis, neuronal, 3, 204200607042
CLN5Ceroid lipofuscinosis, neuronal, 5, 256731608102
CLN6Ceroid lipofuscinosis, neuronal, 6B (Kufs type), 204300; Ceroid lipofuscinosis, neuronal, 6A, 601780606725
CLN8Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; Ceroid lipofuscinosis, neuronal, 8, 600143607837
CLP1Pontocerebellar hypoplasia, type 10, 615803608757
CLPBNeutropenia, severe congenital, 9, 619813; 3-methylglutaconic aciduria, type VIIB, 616271; 3-methylglutaconic aciduria, type VIIA, 619835616254
CLPPPerrault syndrome 3, 614129601119
CLPX?Protoporphyria, erythropoietic, 2, 618015615611
CLQTL1[Cholesterol level QTL 1], 604595604595
CLQTL2[Cholesterol level QTL 2], 610760610760
CLRN1Usher syndrome, type 3A, 276902; Retinitis pigmentosa 61, 614180606397
CLRN2Deafness 117, 619174618988
CLTCIntellectual developmental disorder 56, 617854118955
CLXNCiliary dyskinesia, primary, 53, 620642619564
CMD1BCardiomyopathy, dilated 1B, 600884600884
CMD1HCardiomyopathy, dilated, 1H, 604288604288
CMD1KCardiomyopathy, dilated, 1K, 605582605582
CMD1QCardiomyopathy, dilated, 1Q, 609915609915
CMH21Cardiomyopathy, hypertrophic, 21, 614676614676
CMM{Melanoma, cutaneous malignant, 1}, 155600155600
CMM4{Melanoma, cutaneous malignant, 4}, 608035608035
CMM7{Melanoma, cutaneous malignant, 7}, 612263612263
CMT2HCharcot-Marie-Tooth disease, axonal, type 2H, 607731607731
CMTD1ACharcot-Marie-Tooth disease, dominant intermediate A, 620378620378
CMTS{Chronic mountain sickness, susceptibility to}, 616182616182
CMTX2Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, 302801, X-linked recessive302801
CNA1Cornea plana 1, 121400121400
CNBPMyotonic dystrophy 2, 602668116955
CNC2Carney complex, type II, 605244605244
CNDDermoids of cornea, 304730, X-linked304730
CNGA1Retinitis pigmentosa 49, 613756123825
CNGA3Achromatopsia 2, 216900600053
CNGB1Retinitis pigmentosa 45, 613767600724
CNGB3Achromatopsia 3, 262300605080
CNKSR2Intellectual developmental disorder, X-linked syndromic, Houge type, 301008, X-linked300724
CNNM2Hypomagnesemia 6, renal, 613882; Hypomagnesemia, seizures, and impaired intellectual development 1, 616418607803
CNNM4Jalili syndrome, 217080607805
CNOT1Vissers-Bodmer syndrome, 619033; Holoprosencephaly 12, with or without pancreatic agenesis, 618500604917
CNOT2Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608604909
CNOT3Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672604910
CNP?Leukodystrophy, hypomyelinating, 20, 619071123830
CNPY3Developmental and epileptic encephalopathy 60, 617929610774
CNSNCarnosinemia, 212200212200
CNTN1Congenital myopathy 12, 612540600016
CNTN2Epilepsy, early-onset, 5, with or without developmental delay, 615400190197
CNTNAP1Lethal congenital contracture syndrome 7, 616286; Hypomyelinating neuropathy, congenital, 3, 618186602346
CNTNAP2Pitt-Hopkins like syndrome 1, 610042; {Autism susceptibility 15}, 612100604569
COA3?Mitochondrial complex IV deficiency, nuclear type 14, 619058614775
COA5?Mitochondrial complex IV, deficiency, nuclear type 9, 616500613920
COA6Mitochondrial complex IV deficiency, nuclear type 13, 616501614772
COA7Spinocerebellar ataxia, with axonal neuropathy 3, 618387615623
COA8Mitochondrial complex IV deficiency, nuclear type 17, 619061616003
COASYPontocerebellar hypoplasia, type 12, 618266; Neurodegeneration with brain iron accumulation 6, 615643609855
COCHDeafness 9, 601369; ?Deafness 110, 618094603196
COD2Cone dystrophy, progressive X-linked, 2, 300085, X-linked300085
COG1Congenital disorder of glycosylation, type IIg, 611209606973
COG2?Congenital disorder of glycosylation, type IIq, 617395606974
COG3Congenital disorder of glycosylation, type IIbb, 620546606975
COG4Congenital disorder of glycosylation, type IIj, 613489; Saul-Wilson syndrome, 618150606976
COG5Congenital disorder of glycosylation, type IIi, 613612606821
COG6Shaheen syndrome, 615328; Congenital disorder of glycosylation, type IIl, 614576606977
COG7Congenital disorder of glycosylation, type IIe, 608779606978
COG8Congenital disorder of glycosylation, type IIh, 611182606979
COL10A1Metaphyseal chondrodysplasia, Schmid type, 156500120110
COL11A1Fibrochondrogenesis 1, 228520; Stickler syndrome, type II, 604841; Marshall syndrome, 154780; Deafness 37, 618533; {Lumbar disc herniation, susceptibility to}, 603932120280
COL11A2Deafness 13, 601868; Otospondylomegaepiphyseal dysplasia, 215150; Fibrochondrogenesis 2, 614524; Deafness 53, 609706; Otospondylomegaepiphyseal dysplasia, 184840120290
COL12A1Bethlem myopathy 2, 616471; ?Ullrich congenital muscular dystrophy 2, 616470120320
COL13A1Myasthenic syndrome, congenital, 19, 616720120350
COL17A1Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional 4, intermediate, 619787113811
COL18A1Knobloch syndrome, type 1, 267750; Glaucoma, primary closed-angle, 618880120328
COL1A1Osteogenesis imperfecta, type II, 166210; Caffey disease, 114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; {Bone mineral density variation QTL, osteoporosis}, 166710; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, 619115; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type III, 259420120150
COL1A2Osteogenesis imperfecta, type III, 259420; {Osteoporosis, postmenopausal}, 166710; Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, 619120; Ehlers-Danlos syndrome, cardiac valvular type, 225320; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type II, 166210120160
COL25A1Fibrosis of extraocular muscles, congenital, 5, 616219610004
COL27A1Steel syndrome, 615155608461
COL2A1?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248; Czech dysplasia, 609162; Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; ?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; SED congenita, 183900; Kniest dysplasia, 156550; Stickler syndrome, type I, nonsyndromic ocular, 609508; Osteoarthritis with mild chondrodysplasia, 604864; Stickler syndrome, type I, 108300; Platyspondylic skeletal dysplasia, Torrance type, 151210; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Avascular necrosis of the femoral head, 608805; Legg-Calve-Perthes disease, 150600120140
COL3A1Ehlers-Danlos syndrome, vascular type, 130050; Polymicrogyria with or without vascular-type EDS, 618343120180
COL4A1?Retinal arteries, tortuosity of, 180000; {Hemorrhage, intracerebral, susceptibility to}, 614519; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, 618564; Brain small vessel disease with or without ocular anomalies, 175780120130
COL4A2Brain small vessel disease 2, 614483; {Hemorrhage, intracerebral, susceptibility to}, 614519120090
COL4A3Alport syndrome 3A, 104200; Hematuria, benign familial, 2, 620320; Alport syndrome 3B, 620536120070
COL4A4Hematuria, familial benign, 1, 141200; Alport syndrome 2, 203780120131
COL4A5Alport syndrome 1, X-linked, 301050, X-linked dominant303630
COL4A6?Deafness, X-linked 6, 300914, X-linked recessive303631
COL5A1Ehlers-Danlos syndrome, classic type, 1, 130000; Fibromuscular dysplasia, multifocal, 619329120215
COL5A2Ehlers-Danlos syndrome, classic type, 2, 130010120190
COL6A1Ullrich congenital muscular dystrophy 1A, 254090; Bethlem myopathy 1A, 158810120220
COL6A2?Myosclerosis, congenital, 255600; Ullrich congenital muscular dystrophy 1B, 620727; Bethlem myopathy 1B, 620725120240
COL6A3Bethlem myopathy 1C, 620726; Ullrich congenital muscular dystrophy 1C, 620728; Dystonia 27, 616411120250
COL7A1Nail disorder, nonsyndromic congenital, 8, 607523; Epidermolysis bullosa dystrophica, Bart type, 132000; Epidermolysis bullosa dystrophica inversa, 226600; Epidermolysis bullosa dystrophica, 226600; Epidermolysis bullosa, pretibial, 131850; Epidermolysis bullosa dystrophica, 131750; Transient bullous of the newborn, 131705; Epidermolysis bullosa pruriginosa, 604129; Epidermolysis bullosa dystrophica, localisata variant, 226600120120
COL8A2Corneal dystrophy, posterior polymorphous 2, 609140; Corneal dystrophy, Fuchs endothelial, 1, 136800120252
COL9A1Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135120210
COL9A2Epiphyseal dysplasia, multiple, 2, 600204; ?Stickler syndrome, type V, 614284120260
COL9A3{Intervertebral disc disease, susceptibility to}, 603932; Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969; Stickler syndrome, type VI, 620022120270
COLEC103MC syndrome 3, 248340607620
COLEC113MC syndrome 2, 265050612502
COLGALT1Brain small vessel disease 3, 618360617531
COLQMyasthenic syndrome, congenital, 5, 603034603033
COMAOculomotor apraxia, congenital, Cogan-type, 257550257550
COMPPseudoachondroplasia, 177170; Carpal tunnel syndrome 2, 619161; Epiphyseal dysplasia, multiple, 1, 132400600310
COMT{Schizophrenia, susceptibility to}, 181500; {Panic disorder, susceptibility to}, 167870, ?Autosomal dominant116790
COPA{Autoimmune interstitial lung, joint, and kidney disease}, 616414601924
COPB1Baralle-Macken syndrome, 619255600959
COPB2Osteoporosis, childhood- or juvenile-onset, with developmental delay, 619884; ?Microcephaly 19, primary, 617800606990
COPDPulmonary disease, chronic obstructive, severe early-onset, 606963606963
COQ2{Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency, primary, 1, 607426609825
COQ4Coenzyme Q10 deficiency, primary, 7, 616276; Spastic ataxia 10, 620666612898
COQ5?Coenzyme Q10 deficiency, primary, 9, 619028616359
COQ6Coenzyme Q10 deficiency, primary, 6, 614650614647
COQ7Coenzyme Q10 deficiency, primary, 8, 616733; Neuronopathy, distal hereditary motor 9, 620402601683
COQ8ACoenzyme Q10 deficiency, primary, 4, 612016606980
COQ8BNephrotic syndrome, type 9, 615573615567
COQ9Coenzyme Q10 deficiency, primary, 5, 614654612837
CORD1Cone-rod retinal dystrophy-1, 600624600624
CORD17Cone-rod dystrophy 17, 615163615163
CORD8Cone-rod dystrophy 8, 605549605549
CORIN?Cardiomyopathy, familial hypertrophic, 30, atrial, 620734; Preeclampsia/eclampsia 5, 614595605236
CORO1AImmunodeficiency 8, 615401605000
COX10Mitochondrial complex IV deficiency, nuclear type 3, 619046602125
COX11Mitochondrial complex IV deficiency, nuclear type 23, 620275603648
COX14?Mitochondrial complex IV deficiency, nuclear type 10, 619053614478
COX15Mitochondrial complex IV deficiency, nuclear type 6, 615119603646
COX16Mitochondrial complex IV deficiency, nuclear type 22, 619355618064
COX20Mitochondrial complex IV deficiency, nuclear type 11, 619054614698
COX4I1Mitochondrial complex IV deficiency, nuclear type 16, 619060123864
COX4I2Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714607976
COX5AMitochondrial complex IV deficiency, nuclear type 20, 619064603773
COX6A1Charcot-Marie-Tooth disease, recessive intermediate D, 616039602072
COX6A2Mitochondrial complex IV deficiency, nuclear type 18, 619062602009
COX6B1Mitochondrial complex IV deficiency, nuclear type 7, 619051124089
COX7BLinear skin defects with multiple congenital anomalies 2, 300887, X-linked dominant300885
COX8A?Mitochondrial complex IV deficiency, nuclear type 15, 619059123870
CPAceruloplasminemia, 604290117700
CPA6Febrile seizures, familial, 11, 614418; Epilepsy, familial temporal lobe, 5, 614417609562
CPAMD8Anterior segment dysgenesis 8, 617319608841
CPAT1Cerebral palsy, ataxic, 605388605388
CPEBDV syndrome, 619326114855
CPLANE1Orofaciodigital syndrome VI, 277170; Joubert syndrome 17, 614615614571
CPLX1Developmental and epileptic encephalopathy 63, 617976605032
CPN1Carboxypeptidase N deficiency, 212070603103
CPOXCoproporphyria, 121300; Harderoporphyria, 618892612732
CPROTQ[C-reactive protein QTL], 611920611920
CPS1Carbamoylphosphate synthetase I deficiency, 237300; {Pulmonary hypertension, neonatal, susceptibility to}, 615371608307
CPSF1Myopia 27, 618827606027
CPSF3Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, 619876606029
CPT1ACPT deficiency, hepatic, type IA, 255120600528
CPT1C?Spastic paraplegia 73, 616282608846
CPT2{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212; CPT II deficiency, infantile, 600649; CPT II deficiency, lethal neonatal, 608836; CPT II deficiency, myopathic, stress-induced, 255110600650
CR1[Blood group, Knops system], 607486; {Malaria, severe, resistance to}, 611162120620
CR2{Systemic lupus erythematosus, susceptibility to, 9}, 610927; ?Immunodeficiency, common variable, 7, 614699120650
CRADDIntellectual developmental disorder 34, with variant lissencephaly, 614499603454
CRAT?Neurodegeneration with brain iron accumulation 8, 617917600184
CRB1Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, 600105; Pigmented paravenous chorioretinal atrophy, 172870604210
CRB2Focal segmental glomerulosclerosis 9, 616220; Ventriculomegaly with cystic kidney disease, 219730609720
CRBNIntellectual developmental disorder 2, 607417609262
CRCLCreatinine clearance QTL, 607135607135
CRCS11{Colorectal cancer, susceptibility to, 11}, 612592612592
CRCS2{Colorectal cancer, susceptibility to, 2}, 611469611469
CRCS5{Colorectal cancer, susceptibility to, 5}, 612230612230
CRCS6{Colorectal cancer, susceptibility to, 6}, 612231612231
CRCS7{Colorectal cancer, susceptibility to, 7}, 612232612232
CRCS8{Colorectal cancer, susceptibility to, 8}, 612589612589
CRCS9{Colorectal cancer, susceptibility to, 9}, 612590612590
CREB1Histiocytoma, angiomatoid fibrous, somatic, 612160123810
CREB3L1Osteogenesis imperfecta, type XVI, 616229616215
CREB3L3Hypertriglyceridemia 2, 619324611998
CREBBPMenke-Hennekam syndrome 1, 618332; Rubinstein-Taybi syndrome 1, 180849600140
CRELD1Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217; Jeffries-Lakhani neurodevelopmental syndrome, 620771; {Atrioventricular septal defect, susceptibility to, 2}, 606217607170
CRIPTRothmund-Thomson syndrome, type 3, 615789604594
CRLF1Cold-induced sweating syndrome 1, 272430604237
CRLS1Combined oxidative phosphorylation deficiency 57, 620167608188
CRPPAMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643614631
CRSACraniosynostosis, Adelaide type, 600593, ?Autosomal dominant600593
CRTAPOsteogenesis imperfecta, type VII, 610682605497
CRTC1Mucoepidermoid salivary gland carcinoma607536
CRXLeber congenital amaurosis 7, 613829; Cone-rod retinal dystrophy-2, 120970602225
CRY1{Delayed sleep phase disorder, susceptibility to}, 614163601933
CRYAACataract 9, multiple types, 604219123580
CRYABMyopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869; Myopathy, myofibrillar, 2, 608810; Cataract 16, multiple types, 613763; Cardiomyopathy, dilated, 1II, 615184123590
CRYBA1Cataract 10, multiple types, 600881123610
CRYBA2?Cataract 42, 115900600836
CRYBA4Cataract 23, 610425123631
CRYBB1Cataract 17, multiple types, 611544600929
CRYBB2Cataract 3, multiple types, 601547123620
CRYBB3Cataract 22, 609741123630
CRYGBCataract 39, multiple types, 615188123670
CRYGCCataract 2, multiple types, 604307123680
CRYGDCataract 4, multiple types, 115700123690
CRYGSCataract 20, multiple types, 116100123730
CRYMDeafness 40, 616357123740
CSF1RBrain abnormalities, neurodegeneration, and dysosteosclerosis, 618476; Leukoencephalopathy, diffuse hereditary, with spheroids 1, 221820164770
CSF2RASurfactant metabolism dysfunction, pulmonary, 4, 300770, Pseudoautosomal recessive306250
CSF2RBSurfactant metabolism dysfunction, pulmonary, 5, 614370138981
CSF3RNeutropenia, severe congenital, 7, 617014; ?Neutrophilia, hereditary, 162830138971
CSGALNACT1Skeletal dysplasia, mild, with joint laxity and advanced bone age, 618870616615
CSH1[Placental lactogen deficiency]150200
CSNK1DAdvanced sleep-phase syndrome, familial, 2, 615224600864
CSNK2A1Okur-Chung neurodevelopmental syndrome, 617062115440
CSNK2BPoirier-Bienvenu neurodevelopmental syndrome, 618732115441
CSPP1Joubert syndrome 21, 615636611654
CSRP3?Cardiomyopathy, dilated, 1M, 607482; Cardiomyopathy, hypertrophic, 12, 612124600824
CST3{Macular degeneration, age-related, 11}, 611953; Cerebral amyloid angiopathy, 105150604312
CST6?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535601891
CSTAPeeling skin syndrome 4, 607936184600
CSTBEpilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800601145
CSTF2?Intellectual developmental disorder, X-linked 113, 301116, X-linked recessive300907
CT55?Spermatogenic failure, X-linked, 7, 301106, X-linked recessive301105
CTAA1Cataract 32, multiple types, 115650115650
CTAA2Cataract 24, anterior polar, 601202601202
CTBP1Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915602618
CTC1Cerebroretinal microangiopathy with calcifications and cysts, 612199613129
CTCFIntellectual developmental disorder 21, 615502604167
CTDP1Congenital cataracts, facial dysmorphism, and neuropathy, 604168604927
CTEPH1{Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}, 612862612862
CTHCystathioninuria, 219500607657
CTHRC1Barrett esophagus/esophageal adenocarcinoma, 614266610635
CTLA4Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, 616100; {Diabetes mellitus, insulin-dependent, 12}, 601388; {Celiac disease, susceptibility to, 3}, 609755; {Hashimoto thyroiditis}, 140300; {Systemic lupus erythematosus, susceptibility to}, 152700123890
CTNNA1Macular dystrophy, patterned, 2, 608970116805
CTNNA2Cortical dysplasia, complex, with other brain malformations 9, 618174114025
CTNNA3Arrhythmogenic right ventricular dysplasia 13, 615616607667
CTNNB1Exudative vitreoretinopathy 7, 617572; Pilomatricoma, somatic, 132600; Colorectal cancer, somatic, 114500; Neurodevelopmental disorder with spastic diplegia and visual defects, 615075; Medulloblastoma, somatic, 155255; Ovarian cancer, somatic, 167000; Hepatocellular carcinoma, somatic, 114550116806
CTNNBL1?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, 619846611537
CTNND1Blepharocheilodontic syndrome 2, 617681601045
CTNSCystinosis, nephropathic, 219800; Cystinosis, ocular nonnephropathic, 219750; Cystinosis, late-onset juvenile or adolescent nephropathic, 219900; Cystinosis, atypical nephropathic, 219800606272
CTPL1Cataract 26, multiple types, 605749605749
CTPS1Immunodeficiency 24, 615897123860
CTRC{Pancreatitis, chronic, susceptibility to}, 167800601405
CTRCT25Cataract 25, 605728605728
CTRCT27Cataract 27, nuclear progressive, 607304607304
CTRCT28{Cataract 28, age-related cortical, susceptibility to}, 609026609026
CTRCT29Cataract 29, coralliform, 115800115800
CTRCT35Cataract 35, congenital nuclear, 609376609376
CTRCT37Cataract 37, 614422614422
CTSAGalactosialidosis, 256540613111
CTSBKeratolytic winter erythema, 148370116810
CTSCPeriodontitis 1, juvenile, 170650; Haim-Munk syndrome, 245010; Papillon-Lefevre syndrome, 245000602365
CTSDCeroid lipofuscinosis, neuronal, 10, 610127116840
CTSFCeroid lipofuscinosis, neuronal, 13 (Kufs type), 615362603539
CTSKPycnodysostosis, 265800601105
CTU2Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142617057
CUBN[Proteinuria, chronic benign], 618884; Imerslund-Grasbeck syndrome 1, 261100602997
CUL3Neurodevelopmental disorder with or without autism or seizures, 619239; Pseudohypoaldosteronism, type IIE, 614496603136
CUL4BIntellectual developmental disorder, X-linked syndromic, Cabezas type, 300354, X-linked recessive300304
CUL73-M syndrome 1, 273750609577
CUX1Global developmental delay with or without impaired intellectual development, 618330116896
CUX2Developmental and epileptic encephalopathy 67, 618141610648
CVMRFCubitus valgus with impaired intellectual development and unusual facies, 300471, X-linked recessive300471
CWC27Retinitis pigmentosa with or without skeletal anomalies, 250410617170
CWF19L1Spinocerebellar ataxia 17, 616127616120
CX3CR1{Rapid progression to AIDS from HIV1 infection}, 609423; {Macular degeneration, age-related, 12}, 613784; {Coronary artery disease, resistance to}, 607339601470
CXCL12{AIDS, resistance to}, 609423600835
CXCR1{AIDS, slow progression to}, 609423146929
CXCR2?WHIM syndrome 2, 619407146928
CXCR4WHIM syndrome 1, 193670; Myelokathexis, isolated, 193670162643
CYB561Orthostatic hypotension 2, 618182600019
CYB5AMethemoglobinemia and ambiguous genitalia, 250790613218
CYB5R3Methemoglobinemia, type I, 250800; Methemoglobinemia, type II, 250800613213
CYBAChronic granulomatous disease 4, 233690608508
CYBBImmunodeficiency 34, mycobacteriosis, X-linked, 300645, X-linked recessive; Chronic granulomatous disease, X-linked, 306400, X-linked recessive300481
CYBC1Chronic granulomatous disease 5, 618935618334
CYC1Mitochondrial complex III deficiency, nuclear type 6, 615453123980
CYCSThrombocytopenia 4, 612004123970
CYFIP2Developmental and epileptic encephalopathy 65, 618008606323
CYLC1{Spermatogenic failure, X-linked, 8, susceptibility to}, 301119, X-linked300768
CYLDBrooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; ?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, 619132605018
CYMDMacular dystrophy, dominant cystoid, 153880153880
CYP11A1Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743118485
CYP11B1Aldosteronism, glucocorticoid-remediable, 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010610613
CYP11B2Hypoaldosteronism, congenital, due to CMO I deficiency, 203400; Aldosterone to renin ratio raised; {Low renin hypertension, susceptibility to}; Hypoaldosteronism, congenital, due to CMO II deficiency, 610600124080
CYP17A117,20-lyase deficiency, isolated, 202110; 17-alpha-hydroxylase/17,20-lyase deficiency, 202110609300
CYP19A1Aromatase deficiency, 613546; Aromatase excess syndrome, 139300107910
CYP1B1Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Anterior segment dysgenesis 6, multiple subtypes, 617315601771
CYP21A2Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910613815
CYP24A1Hypercalcemia, infantile, 1, 143880126065
CYP26B1Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416605207
CYP26C1Focal facial dermal dysplasia 4, 614974608428
CYP27A1Cerebrotendinous xanthomatosis, 213700606530
CYP27B1Vitamin D-dependent rickets, type I, 264700609506
CYP2A6{Lung cancer, resistance to}, 211980, Somatic mutation; Coumarin resistance, 122700; {Nicotine addiction, protection from}, 188890122720
CYP2B6{Efavirenz central nervous system toxicity, susceptibility to}, 614546; Efavirenz, poor metabolism of, 614546123930
CYP2C19Proguanil poor metabolizer, 609535; Mephenytoin poor metabolizer, 609535; Clopidogrel, impaired responsiveness to, 609535; Omeprazole poor metabolizer, 609535124020
CYP2C8{Drug metabolism, altered, CYP2C8-related}, 618018601129
CYP2C9Warfarin sensitivity, 122700; Tolbutamide poor metabolizer601130
CYP2D6{Codeine sensitivity}, 608902; {Debrisoquine sensitivity}, 608902124030
CYP2R1Rickets due to defect in vitamin D 25-hydroxylation deficiency, 600081608713
CYP2U1Spastic paraplegia 56, 615030610670
CYP3A4Vitamin D-dependent rickets, type 3, 619073124010
CYP3A5{Hypertension, salt-sensitive essential, susceptibility to}, 145500, Multifactorial605325
CYP4F22Ichthyosis, congenital 5, 604777611495
CYP4V2Bietti crystalline corneoretinal dystrophy, 210370608614
CYP7B1Spastic paraplegia 5A, 270800; Bile acid synthesis defect, congenital, 3, 613812603711
D2HGDHD-2-hydroxyglutaric aciduria, 600721609186
DAAM2Nephrotic syndrome, type 24, 619263606627
DAB1Spinocerebellar ataxia 37, 615945603448
DACT1Townes-Brocks syndrome 2, 617466607861
DAG1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818128239
DAGLANeuroocular syndrome 2, paroxysmal type, 168885614015
DALRD3?Developmental and epileptic encephalopathy 86, 618910618904
DAOA{Schizophrenia}, 181500607408
DARS1Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281603084
DARS2Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105610956
DAW1Ciliary dyskinesia, primary, 52, 620570620279
DAZL{Spermatogenic failure, susceptibility to}601486
DBA2Diamond-Blackfan anemia 2, 606129606129
DBHOrthostatic hypotension 1, due to DBH deficiency, 223360609312
DBR1Xerosis and growth failure with immune and pulmonary dysfunction syndrome, 620510; {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, 619441607024
DBTMaple syrup urine disease, type II, 620699248610
DCAF17Woodhouse-Sakati syndrome, 241080612515
DCAF8?Giant axonal neuropathy 2, 610100615820
DCCMirror movements 1 and/or agenesis of the corpus callosum, 157600; Esophageal carcinoma, somatic, 133239; Colorectal cancer, somatic, 114500; Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542120470
DCDC2Nephronophthisis 19, 616217; ?Deafness 66, 610212; Sclerosing cholangitis, neonatal, 617394605755
DCHS1Mitral valve prolapse 2, 607829; Van Maldergem syndrome 1, 601390603057
DCLRE1BDyskeratosis congenita 8, 620133609683
DCLRE1CSevere combined immunodeficiency, Athabascan type, 602450; Omenn syndrome, 603554605988
DCNCorneal dystrophy, congenital stromal, 610048125255
DCPSAl-Raqad syndrome, 616459610534
DCTOculocutaneous albinism, type VIII, 619165191275
DCTN1Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuronopathy, distal hereditary motor 14, 607641601143
DCXSubcortical laminal heterotopia, X-linked, 300067, X-linked; Lissencephaly, X-linked, 300067, X-linked300121
DCXR[Pentosuria], 260800608347
DDB1White-Kernohan syndrome, 619426600045
DDB2Xeroderma pigmentosum, group E, DDB-negative subtype, 278740600811
DDCAromatic L-amino acid decarboxylase deficiency, 608643107930
DDD3Dowling-Degos disease 3, 615674615674
DDH2Developmental dysplasia of the hip 2, 615612615612
DDHD1Spastic paraplegia 28, 609340614603
DDHD2Spastic paraplegia 54, 615033615003
DDOSTCongenital disorder of glycosylation, type Ir, 614507602202
DDR2Warburg-Cinotti syndrome, 618175; Spondylometaepiphyseal dysplasia, short limb-hand type, 271665191311
DDRGK1Spondyloepimetaphyseal dysplasia, Shohat type, 602557616177
DDX11Warsaw breakage syndrome, 613398601150
DDX3XIntellectual developmental disorder, X-linked syndromic, Snijders Blok type, 300958, X-linked dominant, X-linked recessive300160
DDX41{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871608170
DDX59Orofaciodigital syndrome V, 174300615464
DDX6Intellectual developmental disorder with impaired language and dysmorphic facies, 618653600326
DEAF1Vulto-van Silfout-de Vries syndrome, 615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, 617171602635
DEF6Immunodeficiency 87 and autoimmunity, 619573610094
DEGS1Leukodystrophy, hypomyelinating, 18, 618404615843
DEKLeukemia, acute nonlymphocytic, 125264125264
DENND5ADevelopmental and epileptic encephalopathy 49, 617281617278
DEPDC5Epilepsy, familial focal, with variable foci 1, 604364; Developmental and epileptic encephalopathy 111, 620504614191
DESScapuloperoneal syndrome, neurogenic, Kaeser type, 181400; Cardiomyopathy, dilated, 1I, 604765; Myopathy, myofibrillar, 1, 601419125660
DFCTRPSDeafness, cataract, retinitis pigmentosa, and sperm abnormalities, 300719, X-linked recessive300719
DFNA16Deafness 16, 603964603964
DFNA18Deafness 18, 606012606012
DFNA24Deafness 24, 606282606282
DFNA30Deafness 30, 606451606451
DFNA31Deafness 31, 608645608645
DFNA43Deafness 43, 608394608394
DFNA47Deafness 47, 608652608652
DFNA49Deafness 49, 608372608372
DFNA53Deafness 53, 609965609965
DFNA54Deafness 54, 615649615649
DFNA59Deafness 59, 612642612642
DFNB13Deafness 13, 603098603098
DFNB14Deafness 14, 603678603678
DFNB17Deafness 17, 603010603010
DFNB20Deafness 20, 604060604060
DFNB27Deafness 27, 605818605818
DFNB33Deafness 33, 607239607239
DFNB38Deafness 38, 608219608219
DFNB40Deafness 40, 608264608264
DFNB45Deafness 45, 612433612433
DFNB46Deafness 46, 609647609647
DFNB47Deafness, neurosensory 47, 609946609946
DFNB5Deafness 5, 600792600792
DFNB51Deafness 51, 609941609941
DFNB55Deafness 55, 609952609952
DFNB62Deafness 62, 610143610143
DFNB65Deafness 65, 610248610248
DFNB71Deafness 71, 612789612789
DFNB83Deafness 83, 613685613685
DFNB85Deafness 85, 613392613392
DFNB96Deafness 96, 614414614414
DFNX3Deafness, X-linked 3, 300030, X-linked300030
DFNY1Deafness, Y-linked 1, 400043, Y-linked400043
DGAT1Diarrhea 7, protein-losing enteropathy type, 615863604900
DGKE{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008; Nephrotic syndrome, type 7, 615008601440
DGS2DiGeorge syndrome/velocardiofacial syndrome complex-2, 601362601362
DGUOKPortal hypertension, noncirrhotic, 1, 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions 4, 617070; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880601465
DHCR24Desmosterolosis, 602398606418
DHCR7Smith-Lemli-Opitz syndrome, 270400602858
DHDDSDevelopmental delay and seizures with or without movement abnormalities, 617836; ?Congenital disorder of glycosylation, type 1bb, 613861; Retinitis pigmentosa 59, 613861608172
DHFRMegaloblastic anemia due to dihydrofolate reductase deficiency, 613839126060
DHH46XY gonadal dysgenesis with minifascicular neuropathy, 607080; 46XY sex reversal 7, 233420605423
DHODHMiller syndrome, 263750126064
DHPSNeurodevelopmental disorder with seizures and speech and walking impairment, 618480600944
DHTKD1?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025; Alpha-aminoadipic and alpha-ketoadipic aciduria, 204750614984
DHX16Neuromuscular disease and ocular or auditory anomalies with or without seizures, 618733603405
DHX30Neurodevelopmental disorder with variable motor and speech impairment, 617804616423
DHX37Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731; 46XY sex reversal 11, 273250617362
DHX38Retinitis pigmentosa 84, 618220605584
DIABLODeafness 64, 614152605219
DIAPH1Deafness 1, with or without thrombocytopenia, 124900; Seizures, cortical blindness, microcephaly syndrome, 616632602121
DIAPH2?Premature ovarian failure 2A, 300511, X-linked dominant300108
DIAPH3Auditory neuropathy 1, 609129614567
DICER1Pleuropulmonary blastoma, 601200; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800; GLOW syndrome, somatic mosaic, 618272; Rhabdomyosarcoma, embryonal, 2, 180295606241
DIH1Diaphragmatic hernia 1, 142340, Multifactorial142340
DIH2Diaphragmatic hernia 2, 222400222400
DIO1Thyroid hormone metabolism, abnormal, 2, 619855147892
DIP2BIntellectual developmental disorder, FRA12A type, 136630611379
DIS3L2Perlman syndrome, 267000614184
DISC1{Schizophrenia 9, susceptibility to}, 604906605210
DISC2Schizophrenia, 181500606271
DKBIDyskeratosis, hereditary benign intraepithelial, 127600127600
DKC1?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1, 301108, X-linked dominant; Dyskeratosis congenita, X-linked, 305000, X-linked recessive300126
DLATPyruvate dehydrogenase E2 deficiency, 245348608770
DLC1Colorectal cancer, somatic, 114500604258
DLDDihydrolipoamide dehydrogenase deficiency, 246900238331
DLG3Intellectual developmental disorder, X-linked 90, 300850, X-linked recessive300189
DLG4Intellectual developmental disorder 62, 618793602887
DLG5Yuksel-Vogel-Bauser syndrome, 620703604090
DLL1Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, 618709606582
DLL3Spondylocostal dysostosis 1, 277300602768
DLL4Adams-Oliver syndrome 6, 616589605185
DLSTPheochromocytoma/paraganglioma syndrome 7, 618475126063
DLX3Trichodontoosseous syndrome, 190320; Amelogenesis imperfecta, type IV, 104510600525
DLX4?Orofacial cleft 15, 616788601911
DLX5Split-hand/foot malformation 1, 183600; ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600600028
DMDBecker muscular dystrophy, 300376, X-linked recessive; Cardiomyopathy, dilated, 3B, 302045, X-linked; Duchenne muscular dystrophy, 310200, X-linked recessive300377
DMGDHDimethylglycine dehydrogenase deficiency, 605850605849
DMP1Hypophosphatemic rickets, AR, 241520600980
DMPKMyotonic dystrophy 1, 160900605377
DMXL2Developmental and epileptic encephalopathy 81, 618663; ?Deafness 71, 617605; ?Polyendocrine-polyneuropathy syndrome, 616113612186
DNA2Progressive external ophthalmoplegia with mitochondrial DNA deletions 6, 615156; Rothmund-Thomson syndrome, type 4, 620819; Seckel syndrome 8, 615807601810
DNAAF1Ciliary dyskinesia, primary, 13, 613193613190
DNAAF11Ciliary dyskinesia, primary, 19, 614935614930
DNAAF2Ciliary dyskinesia, primary, 10, 612518612517
DNAAF3Ciliary dyskinesia, primary, 2, 606763614566
DNAAF4{Dyslexia, susceptibility to, 1}, 127700; Ciliary dyskinesia, primary, 25, 615482608706
DNAAF5Ciliary dyskinesia, primary, 18, 614874614864
DNAAF6Ciliary dyskinesia, primary, 36, X-linked, 300991, X-linked recessive300933
DNAH1Spermatogenic failure 18, 617576; Ciliary dyskinesia, primary, 37, 617577603332
DNAH10Spermatogenic failure 56, 619515605884
DNAH11Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884603339
DNAH17Spermatogenic failure 39, 618643610063
DNAH2Spermatogenic failure 45, 619094603333
DNAH5Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644603335
DNAH7Ciliary dyskinesia, primary, 50, 620356610061
DNAH8Spermatogenic failure 46, 619095603337
DNAH9Ciliary dyskinesia, primary, 40, 618300603330
DNAI1Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400604366
DNAI2Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444605483
DNAJB11Polycystic kidney disease 6 with or without polycystic liver disease, 618061611341
DNAJB13Ciliary dyskinesia, primary, 34, 617091610263
DNAJB2Neuronopathy, distal hereditary motor 5, 614881604139
DNAJB4Congenital myopathy 21 with early respiratory failure, 620326611327
DNAJB6Muscular dystrophy, limb-girdle 1, 603511611332
DNAJC12Hyperphenylalaninemia, mild, non-BH4-deficient, 617384606060
DNAJC193-methylglutaconic aciduria, type V, 610198608977
DNAJC21Bone marrow failure syndrome 3, 617052617048
DNAJC3Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192601184
DNAJC30Leber-like hereditary optic neuropathy 1, 619382618202
DNAJC5Ceroid lipofuscinosis, neuronal, 4 (Kufs type), 162350611203
DNAJC6Parkinson disease 19a, juvenile-onset, 615528; Parkinson disease 19b, early-onset, 615528608375
DNAL1Ciliary dyskinesia, primary, 16, 614017610062
DNAL4?Mirror movements 3, 616059610565
DNALI1Spermatogenic failure 83, 620354602135
DNASE1{Systemic lupus erythematosus, susceptibility to}, 152700125505
DNASE1L3Systemic lupus erythematosus 16, 614420602244
DNASE2Autoinflammatory-pancytopenia syndrome, 619858126350
DNHD1Spermatogenic failure 65, 619712617277
DNM1Developmental and epileptic encephalopathy 31B, 620352; Developmental and epileptic encephalopathy 31A, 616346602377
DNM1LOptic atrophy 5, 610708; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388603850
DNM2Centronuclear myopathy 1, 160150; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Lethal congenital contracture syndrome 5, 615368602378
DNMBPCataract 48, 618415611282
DNMT1Neuropathy, hereditary sensory, type IE, 614116; Cerebellar ataxia, deafness, and narcolepsy, 604121126375
DNMT3ATatton-Brown-Rahman syndrome, 615879; Acute myeloid leukemia, somatic, 601626; Heyn-Sproul-Jackson syndrome, 618724602769
DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860; Facioscapulohumeral muscular dystrophy 4, digenic, 619478, Digenic dominant602900
DOCK11Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, 301109, X-linked recessive300681
DOCK2Immunodeficiency 40, 616433603122
DOCK3Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292603123
DOCK6Adams-Oliver syndrome 2, 614219614194
DOCK7Developmental and epileptic encephalopathy 23, 615859615730
DOCK8Hyper-IgE syndrome 2, with recurrent infections, 243700611432
DOHHNeurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, 620066611262
DOK7Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300610285
DOLKCongenital disorder of glycosylation, type Im, 610768610746
DONSONMicrocephaly, short stature, and limb abnormalities, 617604; Microcephaly-micromelia syndrome, 251230611428
DPAGT1Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Congenital disorder of glycosylation, type Ij, 608093191350
DPF2Coffin-Siris syndrome 7, 618027601671
DPH1Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901603527
DPH2Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, 620062603456
DPH5Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, 620070611075
DPM1Congenital disorder of glycosylation, type Ie, 608799603503
DPM2Congenital disorder of glycosylation, type Iu, 615042603564
DPM3?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937605951
DPP6Intellectual developmental disorder 33, 616311; {Ventricular fibrillation, paroxysmal familial, 2}, 612956126141
DPP9Hatipoglu immunodeficiency syndrome, 620331608258
DPY19L2Spermatogenic failure 9, 613958613893
DPYDDihydropyrimidine dehydrogenase deficiency, 274270; 5-fluorouracil toxicity, 274270612779
DPYSDihydropyrimidinuria, 222748613326
DPYSL5Ritscher-Schinzel syndrome 4, 619435608383
DRAM2Cone-rod dystrophy 21, 616502613360
DRC1Spermatogenic failure 80, 620222; Ciliary dyskinesia, primary, 21, 615294615288
DRD3{Essential tremor, hereditary, 1}, 190300; {Schizophrenia, susceptibility to}, 181500126451
DRD4{Attention deficit-hyperactivity disorder}, 143465; Autonomic nervous system dysfunction126452
DRD5{Blepharospasm, primary benign}, 606798; {Attention deficit-hyperactivity disorder, susceptibility to}, 143465126453
DRG1Tan-Almurshedi syndrome, 620641603952
DSC2Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476; Arrhythmogenic right ventricular dysplasia 11, 610476125645
DSC3Hypotrichosis and recurrent skin vesicles, 613102600271
DSEEhlers-Danlos syndrome, musculocontractural type 2, 615539605942
DSG1Keratosis palmoplantaris striata I, AD, 148700; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508125670
DSG2Cardiomyopathy, dilated, 1BB, 612877; Arrhythmogenic right ventricular dysplasia 10, 610193125671
DSG3Blistering, acantholytic, of oral and laryngeal mucosa, 619226169615
DSG4Hypotrichosis 6, 607903607892
DSPArrhythmogenic right ventricular dysplasia 8, 607450; Epidermolysis bullosa, lethal acantholytic, 609638; Keratosis palmoplantaris striata II, 612908; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676125647
DSPPDentinogenesis imperfecta, Shields type III, 125500; Dentinogenesis imperfecta, Shields type II, 125490; Dentin dysplasia, type II, 125420; Deafness 39, with dentinogenesis, 605594125485
DSTNeuropathy, hereditary sensory and autonomic, type VI, 614653; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency, 615425113810
DSTYKSpastic paraplegia 23, 270750; Congenital anomalies of kidney and urinary tract 1, 610805612666
DTNALeft ventricular noncompaction 1, with or without congenital heart defects, 604169601239
DTNBP1Hermansky-Pudlak syndrome 7, 614076607145
DTYMKNeurodegeneration, childhood-onset, with progressive microcephaly, 619847188345
DUH2Dyschromatosis universalis hereditaria 2, 612715612715
DUOX2Thyroid dyshormonogenesis 6, 607200606759
DUOXA2Thyroid dyshormonogenesis 5, 274900612772
DUPC1Dupuytren contracture 1, 126900126900
DURS1Duane retraction syndrome 1, 126800126800
DUSP6Hypogonadotropic hypogonadism 19 with or without anosmia, 615269602748
DUTBone marrow failure and diabetes mellitus syndrome, 620044601266
DVL1Robinow syndrome 2, 616331601365
DVL3Robinow syndrome 3, 616894601368
DWSDandy-Walker syndrome, 220200, Isolated cases220200
DYMSmith-McCort dysplasia, 607326; Dyggve-Melchior-Clausen disease, 223800607461
DYNC1H1Charcot-Marie-Tooth disease, axonal, type 2O, 614228; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600; Cortical dysplasia, complex, with other brain malformations 13, 614563600112
DYNC1I2Neurodevelopmental disorder with microcephaly and structural brain anomalies, 618492603331
DYNC2H1Short-rib thoracic dysplasia 3 with or without polydactyly, 613091, Digenic recessive603297
DYNC2I1Short-rib thoracic dysplasia 8 with or without polydactyly, 615503615462
DYNC2I2Short-rib thoracic dysplasia 11 with or without polydactyly, 615633613363
DYNC2LI1Short-rib thoracic dysplasia 15 with polydactyly, 617088617083
DYNLT2BShort-rib thoracic dysplasia 17 with or without polydactyly, 617405617353
DYRK1AIntellectual developmental disorder 7, 614104600855
DYRK1BAbdominal obesity-metabolic syndrome 3, 615812604556
DYSFMuscular dystrophy, limb-girdle 2, 253601; Miyoshi muscular dystrophy 1, 254130; Myopathy, distal, with anterior tibial onset, 606768603009
DYT13Dystonia 13, torsion, 607671607671
DYT15Dystonia-15, myoclonic, 607488607488
DYT17Dystonia-17, primary torsion, 612406612406
DYT21Dystonia 21, 614588614588
DYT23Dystonia 23, 614860614860
DYT7Dystonia-7, torsion, 602124602124
DYX3{Dyslexia, susceptibility to, 3}, 604254604254
DYX5{Dyslexia, susceptibility to, 5}, 606896606896
DYX6{Dyslexia, susceptibility to, 6}, 606616606616
DYX8{Dyslexia, susceptibility to, 8}, 608995, Multifactorial608995
DYX9{Dyslexia, susceptibility to, 9}, 300509300509
DZIP1Spermatogenic failure 47, 619102; ?Mitral valve prolapse 3, 610840608671
DZIP1LPolycystic kidney disease 5, 617610617570
EA3Episodic ataxia, type 3, 606554606554
EA7Episodic ataxia, type 7, 611907611907
EA8Episodic ataxia, type 8, 616055616055
EARS2Combined oxidative phosphorylation deficiency 12, 614924612799
EBF3Hypotonia, ataxia, and delayed development syndrome, 617330607407
EBPMEND syndrome, 300960, X-linked recessive; Chondrodysplasia punctata, X-linked dominant, 302960, X-linked dominant300205
ECA1Epilepsy, childhood absence, 1, 600131600131
ECE1{Hypertension, essential, susceptibility to}, 145500, Multifactorial; ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870600423
ECEL1Arthrogryposis, distal, type 5D, 615065605896
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277602292
ECM1Urbach-Wiethe disease, 247100602201
ECTCentrotemporal epilepsy, 117100, Isolated cases117100
ECTD5Ectodermal dysplasia 5, hair/nail type, 614927614927
ECTD6Ectodermal dysplasia 6, hair/nail type, 614928614928
ECTD8Ectodermal dysplasia 8, hair/tooth/nail type, 602401602401
EDATooth agenesis, selective, X-linked 1, 313500, X-linked dominant; Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100, X-linked recessive300451
EDAR[Hair morphology 1, hair thickness], 612630; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, 129490; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, 224900604095
EDARADDEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, 614941; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940606603
EDC3?Intellectual developmental disorder 50, 616460609842
EDEM3Congenital disorder of glycosylation, type IIv, 619493610214
EDN1Question mark ears, isolated, 612798; Auriculocondylar syndrome 3, 615706131240
EDN3Waardenburg syndrome, type 4B, 613265; {Hirschsprung disease, susceptibility to, 4}, 613712131242
EDNRA{Migraine, resistance to}, 157300; Mandibulofacial dysostosis with alopecia, 616367131243
EDNRB{Hirschsprung disease, susceptibility to, 2}, 600155; ?ABCD syndrome, 600501; Waardenburg syndrome, type 4A, 277580131244
EDSS2Ectodermal dysplasia-syndactyly syndrome 2, 613576613576
EEC1?EEC syndrome-1, 129900129900
EEDCohen-Gibson syndrome, 617561605984
EEF1A2Developmental and epileptic encephalopathy 33, 616409; Intellectual developmental disorder 38, 616393602959
EEF2?Spinocerebellar ataxia 26, 609306130610
EEGV1Electroencephalographic variant pattern 1, 130180130180
EFEMP1Doyne honeycomb degeneration of retina, 126600; Cutis laxa, type ID, 620780; Glaucoma 1, open angle, H, 611276601548
EFEMP2Cutis laxa, type IB, 614437604633
EFHC1{Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770608815
EFL1Shwachman-Diamond syndrome 2, 617941617538
EFNB1Craniofrontonasal dysplasia, 304110, X-linked dominant300035
EFTUD2Mandibulofacial dysostosis, Guion-Almeida type, 610536603892
EGF?Hypomagnesemia 4, renal, 611718131530
EGFRNeonatal nephrocutaneous inflammatory syndrome, 616069; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980, Somatic mutation; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980, Somatic mutation; {Nonsmall cell lung cancer, susceptibility to}, 211980, Somatic mutation131550
EGI{Epilepsy, idiopathic generalized, susceptibility to, 1}, 600669600669
EGLN1Erythrocytosis, familial, 3, 609820; [Hemoglobin, high altitude adaptation], 609070606425
EGR2Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 1D, 607678; Hypomyelinating neuropathy, congenital, 1, 605253129010
EHBP1{Prostate cancer, hereditary, 12}, 611868609922
EHHADH?Fanconi renotubular syndrome 3, 615605607037
EHMT1Kleefstra syndrome 1, 610253607001
EIF2AK1?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome, 618878613635
EIF2AK2Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877; Dystonia 33, 619687176871
EIF2AK3Wolcott-Rallison syndrome, 226980604032
EIF2AK4Pulmonary venoocclusive disease 2, 234810609280
EIF2B1Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, 603896606686
EIF2B2Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, 620312606454
EIF2B3Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure, 620313606273
EIF2B4Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure, 620314606687
EIF2B5Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure, 620315603945
EIF2S3MEHMO syndrome, 300148, X-linked recessive300161
EIF3FIntellectual developmental disorder 67, 618295603914
EIF4A2Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, 620455601102
EIF4A3Robin sequence with cleft mandible and limb anomalies, 268305608546
EIF4E{Autism, susceptibility to, 19}, 615091133440
EIF4G1{Parkinson disease 18}, 614251600495
EIF5AFaundes-Banka syndrome, 619376600187
EIG2{Epilepsy, idiopathic generalized, susceptibility to, 2}, 606972606972
EIG3{Epilepsy, idiopathic generalized, susceptibility to, 3}, 608762608762
EIG4{Epilepsy, idiopathic generalized, susceptibility to 4}, 609750609750
EIG5{Epilepsy, idiopathic generalized, susceptibility to, 5}, 611934611934
EJM2{Epilepsy, idiopathic generalized, susceptibility to, 7}, 604827, Isolated cases; Epilepsy, juvenile myoclonic, 604827, Isolated cases604827
EJM3Epilepsy, juvenile myoclonic 3, 608816608816
EJM4Myoclonic epilepsy, juvenile, 4, 611364611364
EJM9{Epilepsy, juvenile myoclonic, susceptibility to, 9}, 614280614280
EKD2Episodic kinesigenic dyskinesia 2, 611031611031
ELAC2{Prostate cancer, hereditary, 2, susceptibility to}, 614731; Combined oxidative phosphorylation deficiency 17, 615440605367
ELANENeutropenia, cyclic, 162800; Neutropenia, severe congenital 1, 202700130130
ELF4Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, 301074, X-linked recessive300775
ELMO2Vascular malformation, primary intraosseous, 606893606421
ELMOD3?Deafness 88, 615429; ?Deafness 81, 619500615427
ELNCutis laxa, 123700; Supravalvar aortic stenosis, 185500130160
ELOVL1Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527611813
ELOVL4Spinocerebellar ataxia 34, 133190; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and impaired intellectual development, 614457605512
ELOVL5Spinocerebellar ataxia 38, 615957611805
ELP1{Medulloblastoma}, 155255, Somatic mutation; Dysautonomia, familial, 223900603722
ELP2Intellectual developmental disorder 58, 617270616054
ELP4?Aniridia 2, 617141606985
EMC1Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875616846
EMC10Neurodevelopmental disorder with dysmorphic facies and variable seizures, 619264614545
EMDEmery-Dreifuss muscular dystrophy 1, X-linked, 310300, X-linked recessive300384
EMG1Bowen-Conradi syndrome, 211180611531
EMILIN1Neuronopathy, distal hereditary motor 10, 620080; Arterial tortuosity-bone fragility syndrome, 620908130660
EML1Band heterotopia, 600348602033
EMP2Nephrotic syndrome, type 10, 615861602334
EMWXEpisodic muscle weakness, X-linked, 300211300211
EMX2Schizencephaly, 269160600035
EN1?ENDOVE syndrome, limb-brain type, 619218131290
ENAMAmelogenesis imperfecta, type IC, 204650; Amelogenesis imperfecta, type IB, 104500606585
ENDO1{Endometriosis, susceptibility to, 1}, 131200, Multifactorial131200
ENFL2Epilepsy, nocturnal frontal lobe, type 2, 603204603204
ENGTelangiectasia, hereditary hemorrhagic, type 1, 187300131195
ENO3Glycogen storage disease XIII, 612932131370
ENPP1{Obesity, susceptibility to}, 601665, Multifactorial; Hypophosphatemic rickets, 2, 613312; {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853; Arterial calcification, generalized, of infancy, 1, 208000; Cole disease, 615522173335
ENTPD1Spastic paraplegia 64, 615683601752
ENUR1Enuresis, nocturnal, 1, 600631600631
ENUR2Enuresis, nocturnal, 2, 600808600808
EOE1{Esophagitis, eosinophilic, 1}, 610247, Multifactorial610247
EOE2{Esophagitis, eosinophilic, 2}, 613412, Multifactorial613412
EOGTAdams-Oliver syndrome 4, 615297614789
EOSEosinophilia, familial, 131400131400
EP300Menke-Hennekam syndrome 2, 618333; Colorectal cancer, somatic, 114500; Rubinstein-Taybi syndrome 2, 613684602700
EPAS1Erythrocytosis, familial, 4, 611783603349
EPB41Elliptocytosis-1, 611804130500
EPB41L1?Intellectual developmental disorder 11, 614257602879
EPB42Spherocytosis, type 5, 612690177070
EPCAMDiarrhea 5, with tufting enteropathy, congenital, 613217; Lynch syndrome 8, 613244185535
EPG5Vici syndrome, 242840615068
EPHA10?Deafness 88, 620283611123
EPHA2Cataract 6, multiple types, 116600176946
EPHB2?Bleeding disorder, platelet-type, 22, 618462; {Prostate cancer/brain cancer susceptibility, somatic}, 603688600997
EPHB4Capillary malformation-arteriovenous malformation 2, 618196; Lymphatic malformation 7, 617300600011
EPHX2{Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890132811
EPM2AMyoclonic epilepsy of Lafora 1, 254780607566
EPO{Microvascular complications of diabetes 2}, 612623; Erythrocytosis, familial, 5, 617907; ?Diamond-Blackfan anemia-like, 617911133170
EPOR[Erythrocytosis, familial, 1], 133100133171
EPPSEpilepsy, partial, with pericentral spikes, 607221607221
EPRS1Leukodystrophy, hypomyelinating, 15, 617951138295
EPS8?Deafness 102, 615974600206
EPS8L2Deafness autosomal recessive 106, 617637614988
EPS8L3?Hypotrichosis 5, 612841614989
EPX[Eosinophil peroxidase deficiency], 261500131399
ERAL1Perrault syndrome 6, 617565607435
ERBB2Gastric cancer, somatic, 613659; Adenocarcinoma of lung, somatic, 211980; Ovarian cancer, somatic, 167000; ?Visceral neuropathy, familial, 2, 619465; Glioblastoma, somatic, 137800164870
ERBB3?Lethal congenital contractural syndrome 2, 607598; {?Erythroleukemia, familial, susceptibility to}, 133180; Visceral neuropathy, familial, 1, 243180190151
ERBB4Amyotrophic lateral sclerosis 19, 615515600543
ERCC1Cerebrooculofacioskeletal syndrome 4, 610758126380
ERCC2Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy 1, photosensitive, 601675; ?Cerebrooculofacioskeletal syndrome 2, 610756126340
ERCC3Trichothiodystrophy 2, photosensitive, 616390; Xeroderma pigmentosum, group B, 610651133510
ERCC4Xeroderma pigmentosum, type F/Cockayne syndrome, 278760; XFE progeroid syndrome, 610965; Xeroderma pigmentosum, group F, 278760; Fanconi anemia, complementation group Q, 615272133520
ERCC5Xeroderma pigmentosum, group G, 278780; Cerebrooculofacioskeletal syndrome 3, 616570; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780133530
ERCC6UV-sensitive syndrome 1, 600630; Cerebrooculofacioskeletal syndrome 1, 214150; ?De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; {Macular degeneration, age-related, susceptibility to, 5}, 613761; Premature ovarian failure 11, 616946; {Lung cancer, susceptibility to}, 211980, Somatic mutation609413
ERCC6L2Bone marrow failure syndrome 2, 615715615667
ERCC8UV-sensitive syndrome 2, 614621; Cockayne syndrome, type A, 216400609412
ERFCraniosynostosis 4, 600775; Chitayat syndrome, 617180611888
ERGLymphatic malformation 14, 620602165080
ERGIC1?Arthrogryposis multiplex congenita 2, neurogenic type, 208100617946
ERI1Hoxha-Aliu syndrome, 620662; Spondyloepimetaphyseal dysplasia, Guo-Campeau type, 620663608739
ERLIN1Spastic paraplegia 62, 615681611604
ERLIN2Spastic paraplegia 18A, 620512; Spastic paraplegia 18B, 611225611605
ERMAP[Blood group, Scianna system], 111750; [Blood group, Radin], 111620609017
ERMARD?Periventricular nodular heterotopia 6, 615544615532
ESAMNeurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, 620371614281
ESCO2Juberg-Hayward syndrome, 216100; Roberts-SC phocomelia syndrome, 268300609353
ESPNDeafness, neurosensory, without vestibular involvement, 609006; Deafness 36, 609006; ?Usher syndrome, type 1M, 618632606351
ESR1Breast cancer, somatic, 114480; {Migraine, susceptibility to}, 157300; Estrogen resistance, 615363; {Myocardial infarction, susceptibility to}, 608446133430
ESR2?Ovarian dysgenesis 8, 618187601663
ESRP1?Deafness 109, 618013612959
ESRRBDeafness 35, 608565602167
ETFAGlutaric acidemia IIA, 231680608053
ETFBGlutaric acidemia IIB, 231680130410
ETFDHGlutaric acidemia IIC, 231680231675
ETHE1Ethylmalonic encephalopathy, 602473608451
ETL2Epilepsy, familial temporal lobe, 2, 608096608096
ETL4Epilepsy, familial temporal lobe, 4, 611631611631
ETL6Epilepsy, familial temporal lobe, 6, 615697615697
ETM2Essential tremor, hereditary, 2, 602134602134
ETM3Essential tremor, hereditary, 3, 611456611456
ETV6Thrombocytopenia 5, 616216; Leukemia, acute myeloid, somatic, 601626600618
EVCEllis-van Creveld syndrome, 225500; ?Weyers acrofacial dysostosis, 193530604831
EVC2Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530607261
EVR3Exudative vitreoretinopathy 3, 605750605750
EWSR1Neuroepithelioma, 612219; Ewing sarcoma, 612219133450
EXOC2Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, 619306615329
EXOC3L2Brain malformation renal syndrome, 620943616927
EXOC6BSpondyloepimetaphyseal dysplasia with joint laxity, type 3, 618395607880
EXOC7Neurodevelopmental disorder with seizures and brain atrophy, 619072608163
EXOC8?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy, 619076615283
EXOSC1?Pontocerebellar hypoplasia, type 1F, 619304606493
EXOSC2Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763602238
EXOSC3Pontocerebellar hypoplasia, type 1B, 614678606489
EXOSC5Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, 619576606492
EXOSC8Pontocerebellar hypoplasia, type 1C, 616081606019
EXOSC9Pontocerebellar hypoplasia, type 1D, 618065606180
EXPH5Epidermolysis bullosa simplex 4, localized or generalized intermediate, 615028612878
EXT1Exostoses, multiple, type 1, 133700; Chondrosarcoma, 215300, Somatic mutation608177
EXT2Seizures, scoliosis, and macrocephaly syndrome, 616682; Exostoses, multiple, type 2, 133701608210
EXT3Exostoses, multiple, type 3, 600209600209
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425605744
EYA1Branchiootic syndrome 1, 602588; Branchiootorenal syndrome 1, with or without cataracts, 113650; Anterior segment anomalies with or without cataract, 602588; ?Otofaciocervical syndrome, 166780601653
EYA4?Cardiomyopathy, dilated, 1J, 605362; Deafness 10, 601316603550
EYSRetinitis pigmentosa 25, 602772612424
EZH2Weaver syndrome, 277590601573
F10Factor X deficiency, 227600613872
F11Factor XI deficiency, 612416; Factor XI deficiency, 612416264900
F12Angioedema, hereditary, 3, 610618; Factor XII deficiency, 234000610619
F13A1Factor XIIIA deficiency, 613225; {Myocardial infarction, protection against}, 608446; {Venous thrombosis, protection against}, 188050134570
F13BFactor XIIIB deficiency, 613235134580
F2Hypoprothrombinemia, 613679; {Pregnancy loss, recurrent, susceptibility to, 2}, 614390; Dysprothrombinemia, 613679; Thrombophilia 1 due to thrombin defect, 188050; {Stroke, ischemic, susceptibility to}, 601367, Multifactorial176930
F5Thrombophilia 2 due to activated protein C resistance, 188055; {Pregnancy loss, recurrent, susceptibility to, 1}, 614389; {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055; {Budd-Chiari syndrome}, 600880; {Stroke, ischemic, susceptibility to}, 601367, Multifactorial; Factor V deficiency, 227400612309
F7{Myocardial infarction, decreased susceptibility to}, 608446; Factor VII deficiency, 227500613878
F8Thrombophilia 13, X-linked, due to factor VIII defect, 301071; Hemophilia A, 306700, X-linked recessive300841
F9{Deep venous thrombosis, protection against}, 300807, X-linked recessive; Hemophilia B, 306900, X-linked recessive; Thrombophilia 8, X-linked, due to factor IX defect, 300807, X-linked recessive; {Warfarin sensitivity}, 301052, X-linked300746
FA2HSpastic paraplegia 35, 612319611026
FAAH{Drug addiction, susceptibility to}, 606581602935
FADDImmunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction, 613759602457
FAHTyrosinemia, type I, 276700613871
FAM111AKenny-Caffey syndrome, type 2, 127000; Gracile bone dysplasia, 602361615292
FAM111BPoikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704615584
FAM149B1Joubert syndrome 36, 618763618413
FAM161ARetinitis pigmentosa 28, 606068613596
FAM20AAmelogenesis imperfecta, type IG (enamel-renal syndrome), 204690611062
FAM20CRaine syndrome, 259775611061
FAM50AIntellectual developmental disorder, X-linked syndromic, Armfield type, 300261, X-linked recessive300453
FAM83HAmelogenesis imperfecta, type IIIA, 130900611927
FAN1Interstitial nephritis, karyomegalic, 614817613534
FANCAFanconi anemia, complementation group A, 227650607139
FANCBFanconi anemia, complementation group B, 300514, X-linked recessive300515
FANCCFanconi anemia, complementation group C, 227645613899
FANCD2Fanconi anemia, complementation group D2, 227646613984
FANCEFanconi anemia, complementation group E, 600901613976
FANCFFanconi anemia, complementation group F, 603467613897
FANCGFanconi anemia, complementation group G, 614082602956
FANCIFanconi anemia, complementation group I, 609053611360
FANCLFanconi anemia, complementation group L, 614083608111
FANCMPremature ovarian failure 15, 618096; Spermatogenic failure 28, 618086609644
FAR1Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154; Cataracts, spastic paraparesis, and speech delay, 619338616107
FARS2Combined oxidative phosphorylation deficiency 14, 614946; Spastic paraplegia 77, 617046611592
FARSA?Rajab interstitial lung disease with brain calcifications 2, 619013602918
FARSBRajab interstitial lung disease with brain calcifications 1, 613658609690
FASSquamous cell carcinoma, burn scar-related, somatic; Autoimmune lymphoproliferative syndrome, type IA, 601859; {Autoimmune lymphoproliferative syndrome}, 601859134637
FASLGAutoimmune lymphoproliferative syndrome, type IB, 601859; {Lung cancer, susceptibility to}, 211980, Somatic mutation134638
FASTKD2Combined oxidative phosphorylation deficiency 44, 618855612322
FAT2Spinocerebellar ataxia 45, 617769604269
FAT4Van Maldergem syndrome 2, 615546; Hennekam lymphangiectasia-lymphedema syndrome 2, 616006612411
FBLN1Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180135820
FBLN5Cutis laxa, type IA, 219100; Charcot-Marie-Tooth disease, demyelinating, type 1H, 619764; Macular degeneration, age-related, 3, 608895; ?Cutis laxa 2, 614434604580
FBN1Geleophysic dysplasia 2, 614185; Weill-Marchesani syndrome 2, dominant, 608328; Ectopia lentis, familial, 129600; MASS syndrome, 604308; Marfan lipodystrophy syndrome, 616914; Acromicric dysplasia, 102370; Marfan syndrome, 154700; Stiff skin syndrome, 184900134797
FBN2Macular degeneration, early-onset, 616118; Contractural arachnodactyly, congenital, 121050612570
FBP1Fructose-1,6-bisphosphatase deficiency, 229700611570
FBP2?Leukodystrophy, childhood-onset, remitting, 619864603027
FBXL3Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220605653
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471605654
FBXO11Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089607871
FBXO28Developmental and epileptic encephalopathy 100, 619777609100
FBXO31?Intellectual developmental disorder 45, 615979609102
FBXO38Neuronopathy, distal hereditary motor 6, 615575608533
FBXO43Spermatogenic failure 64, 619696; Oocyte/zygote/embryo maturation arrest 12, 619697609110
FBXO7Parkinson disease 15, 260300605648
FBXW11Neurodevelopmental, jaw, eye, and digital syndrome, 618914605651
FBXW7Developmental delay, hypotonia, and impaired language, 620012606278
FCGR1A[IgG receptor I, phagocytic, familial deficiency of]146760
FCGR2A{Malaria, severe, susceptibility to}, 611162; {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700; {Lupus nephritis, susceptibility to}, 152700146790
FCGR2B{Systemic lupus erythematosus, susceptibility to}, 152700; {Malaria, resistance to}, 611162604590
FCGR3AImmunodeficiency 20, 615707146740
FCHO1Immunodeficiency 76, 619164613437
FCN3Immunodeficiency due to ficolin 3 deficiency, 613860604973
FCP1Fetal hemoglobin quantitative trait locus 3, 305435, X-linked305435
FCSKCongenital disorder of glycosylation with defective fucosylation 2, 618324608675
FDFT1Squalene synthase deficiency, 618156184420
FDPSPorokeratosis 9, multiple types, 616631134629
FDX2Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900614585
FDXRMultiple mitochondrial dysfunctions syndrome 9B, 620887; Auditory neuropathy and optic atrophy, 617717103270
Feb-01Febrile seizures, familial, 1, 121210121210
Feb-10Febrile seizures, familial, 10, 612637612637
Feb-05Febrile seizures, familial, 5, 609255609255
Feb-06Febrile seizures, familial, 6, 609253609253
Feb-07Febrile seizures, familial, 7, 611515611515
Feb-09Febrile seizures, familial, 9, 611634611634
FECD2Corneal dystrophy, Fuchs endothelial, 2, 610158610158
FECD5Corneal dystrophy, Fuchs endothelial, 5, 613269613269
FECD7Corneal dystrophy, Fuchs endothelial, 7, 613271613271
FECHProtoporphyria, erythropoietic, 1, 177000612386
FERMT1Kindler syndrome, 173650607900
FERMT3Leukocyte adhesion deficiency, type III, 612840607901
FERRY3Intellectual developmental disorder 66, 618221616082
FEZF1Hypogonadotropic hypogonadism 22, with or without anosmia, 616030613301
FFAR4{Obesity, susceptibility to}, 607514609044
FGAAmyloidosis, hereditary systemic 2, 105200; Hypodysfibrinogenemia, congenital, 616004; Dysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400134820
FGBHypofibrinogenemia, congenital, 202400; Dysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400134830
FGD1Intellectual developmental disorder, X-linked syndromic 16, 305400, X-linked recessive; Aarskog-Scott syndrome, 305400, X-linked recessive300546
FGD4Charcot-Marie-Tooth disease, type 4H, 609311611104
FGF10LADD syndrome 3, 620193; Aplasia of lacrimal and salivary glands, 180920602115
FGF12Developmental and epileptic encephalopathy 47, 617166601513
FGF13Developmental and epileptic encephalopathy 90, 301058, X-linked dominant, X-linked recessive; Intellectual developmental disorder, X-linked 110, 301095, X-linked recessive300070
FGF14Spinocerebellar ataxia 27A, 193003; Spinocerebellar ataxia 27B, late-onset, 620174601515
FGF16Metacarpal 4-5 fusion, 309630, X-linked recessive300827
FGF17Hypogonadotropic hypogonadism 20 with or without anosmia, 615270603725
FGF20?Renal hypodysplasia/aplasia 2, 615721605558
FGF23Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993; Hypophosphatemic rickets, 193100605380
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706164950
FGF5Trichomegaly, 190330165190
FGF8Hypogonadotropic hypogonadism 6 with or without anosmia, 612702600483
FGF9Multiple synostoses syndrome 3, 612961600921
FGFR1Pfeiffer syndrome, 101600; Hypogonadotropic hypogonadism 2 with or without anosmia, 147950; Jackson-Weiss syndrome, 123150; Hartsfield syndrome, 615465; Trigonocephaly 1, 190440; Osteoglophonic dysplasia, 166250; Encephalocraniocutaneous lipomatosis, somatic mosaic, 613001136350
FGFR2Bent bone dysplasia syndrome, 614592; LADD syndrome 1, 149730; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410; Scaphocephaly and Axenfeld-Rieger anomaly; Jackson-Weiss syndrome, 123150; Gastric cancer, somatic, 613659; Craniofacial-skeletal-dermatologic dysplasia, 101600; Apert syndrome, 101200; Pfeiffer syndrome, 101600; Craniosynostosis, nonspecific; ?Scaphocephaly, maxillary retrusion, and impaired intellectual development, 609579; Beare-Stevenson cutis gyrata syndrome, 123790; Crouzon syndrome, 123500; Saethre-Chotzen syndrome, 101400176943
FGFR3Muenke syndrome, 602849; SADDAN, 616482; Hypochondroplasia, 146000; Thanatophoric dysplasia, type II, 187601; Nevus, epidermal, somatic, 162900; CATSHL syndrome, 610474; Thanatophoric dysplasia, type I, 187600; Spermatocytic seminoma, somatic, 273300; Bladder cancer, somatic, 109800; LADD syndrome 2, 620192; Achondroplasia, 100800; Cervical cancer, somatic, 603956; Colorectal cancer, somatic, 114500; Crouzon syndrome with acanthosis nigricans, 612247134934
FGFR4{Cancer progression/metastasis}134935
FGGDysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, 616004; Hypofibrinogenemia, congenital, 202400; Afibrinogenemia, congenital, 202400134850
FGQTL1[Fasting plasma glucose level QTL 1], 612108612108
FGQTL2[Fasting plasma glucose level QTL 2], 613219; [Birth weight QTL 1], 613219613219
FGQTL3[Fasting plasma glucose level QTL 3], 613233613233
FGQTL4[Fasting plasma glucose level QTL 4], 613462613462
FGQTL6[Birth weight QTL 3], 613460; [Fasting plasma glucose level QTL 6], 613460613460
FGS3FG syndrome 3, 300406, X-linked300406
FGS5FG syndrome 5, 300581, X-linked300581
FHLeiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812136850
FHL1Myopathy, X-linked, with postural muscle atrophy, 300696, X-linked recessive; Emery-Dreifuss muscular dystrophy 6, X-linked, 300696, X-linked recessive; ?Uruguay faciocardiomusculoskeletal syndrome, 300280, X-linked recessive; Scapuloperoneal myopathy, X-linked dominant, 300695, X-linked dominant; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718, X-linked; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717, X-linked dominant300163
FHOD3Cardiomyopathy, familial hypertrophic, 28, 619402609691
FIBPThauvin-Robinet-Faivre syndrome, 617107608296
FICDSpastic paraplegia 92, 620911620875
FIG4Yunis-Varon syndrome, 216340; ?Polymicrogyria, bilateral temporooccipital, 612691; Amyotrophic lateral sclerosis 11, 612577; Charcot-Marie-Tooth disease, type 4J, 611228609390
FIGLAPremature ovarian failure 6, 612310608697
FILIP1Neuromuscular disorder, congenital, with dysmorphic facies, 620775607307
FIQTL1[Fasting insulin level quantitative trait locus 1], 606035606035
FITM2Siddiqi syndrome, 618635612029
FKBP10Osteogenesis imperfecta, type XI, 610968; Bruck syndrome 1, 259450607063
FKBP14Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557614505
FKBP5{Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516602623
FKBP6Spermatogenic failure 77, 620103604839
FKRPMuscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153606596
FKTNMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800; Cardiomyopathy, dilated, 1X, 611615; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, 613152607440
FL1{Follicular lymphoma, susceptibility to, 1}, 613024613024
FLAD1Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100610595
FLCNBirt-Hogg-Dube syndrome, 135150; Colorectal cancer, somatic, 114500; Pneumothorax, primary spontaneous, 173600; Renal carcinoma, chromophobe, somatic, 144700607273
FLGIchthyosis vulgaris, 146700; {Dermatitis, atopic, susceptibility to, 2}, 605803135940
FLG2Peeling skin syndrome 6, 618084616284
FLI1Bleeding disorder, platelet-type, 21, 617443193067
FLIICardiomyopathy, dilated, 2J, 620635600362
FLNAOtopalatodigital syndrome, type II, 304120, X-linked dominant; Intestinal pseudoobstruction, neuronal, 300048, X-linked recessive; Cardiac valvular dysplasia, X-linked, 314400, X-linked; ?FG syndrome 2, 300321, X-linked; Melnick-Needles syndrome, 309350, X-linked dominant; Terminal osseous dysplasia, 300244, X-linked dominant; Congenital short bowel syndrome, 300048, X-linked recessive; Otopalatodigital syndrome, type I, 311300, X-linked dominant; Heterotopia, periventricular, 1, 300049, X-linked dominant; Frontometaphyseal dysplasia 1, 305620, X-linked recessive300017
FLNBLarsen syndrome, 150250; Atelosteogenesis, type I, 108720; Atelosteogenesis, type III, 108721; Spondylocarpotarsal synostosis syndrome, 272460; Boomerang dysplasia, 112310603381
FLNCCardiomyopathy, familial hypertrophic, 26, 617047; Arrhythmogenic right ventricular dysplasia, familial, 617047; Cardiomyopathy, familial restrictive 5, 617047; Myopathy, distal, 4, 614065; Myopathy, myofibrillar, 5, 609524102565
FLRT3Hypogonadotropic hypogonadism 21 with anosmia, 615271604808
FLT3Leukemia, acute lymphoblastic, somatic, 613065; Leukemia, acute myeloid, reduced survival in, somatic, 601626; Leukemia, acute myeloid, somatic, 601626136351
FLT3LG?Immunodeficiency 125, 620926600007
FLT4Hemangioma, capillary infantile, somatic, 602089; Lymphatic malformation 1, 153100; Congenital heart defects, multiple types, 7, 618780136352
FLVCR1Ataxia, posterior column, with retinitis pigmentosa, 609033609144
FLVCR2Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790610865
FMN2Intellectual developmental disorder 47, 616193606373
FMO3Trimethylaminuria, 602079136132
FMR1Fragile X tremor/ataxia syndrome, 300623, X-linked dominant; Fragile X syndrome, 300624, X-linked dominant; Premature ovarian failure 1, 311360, X-linked309550
FMTLEEpilepsy, familial temporal lobe, 3, 611630611630
FN1Spondylometaphyseal dysplasia, corner fracture type, 184255; Glomerulopathy with fibronectin deposits 2, 601894135600
FNIP1Immunodeficiency 93 and hypertrophic cardiomyopathy, 619705610594
FOCADLiver disease, severe congenital, 619991614606
FOLR1Neurodegeneration due to cerebral folate transport deficiency, 613068136430
FOSL2Aplasia cutis-enamel dysplasia syndrome, 620789601575
FOXC1Axenfeld-Rieger syndrome, type 3, 602482; Anterior segment dysgenesis 3, multiple subtypes, 601631601090
FOXC2Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400602402
FOXD3{Autoimmune disease, susceptibility to, 1}, 607836611539
FOXE1Bamforth-Lazarus syndrome, 241850; {Thyroid cancer, nonmedullary, 4}, 616534602617
FOXE3Anterior segment dysgenesis 2, multiple subtypes, 610256; {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349; Cataract 34, multiple types, 612968601094
FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380601089
FOXG1Rett syndrome, congenital variant, 613454164874
FOXI1Enlarged vestibular aqueduct, 600791601093
FOXI3Craniofacial microsomia 2, 620444612351
FOXJ1Ciliary dyskinesia, primary, 43, 618699602291
FOXL1Otosclerosis 11, 620576603252
FOXL2Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100; Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100; Premature ovarian failure 3, 608996605597
FOXN1T-cell lymphopenia, infantile, with or without nail dystrophy, 618806; T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705600838
FOXO1Rhabdomyosarcoma, alveolar, 268220, Somatic mutation136533
FOXP1Intellectual developmental disorder with language impairment with or without autistic features, 613670605515
FOXP2Speech-language disorder-1, 602081605317
FOXP3Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790, X-linked recessive300292
FOXRED1Mitochondrial complex I deficiency, nuclear type 19, 618241613622
FRA10AC1Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, 620113608866
FRAS1Fraser syndrome 1, 219000607830
FRDA2Friedreich ataxia 2, 601992601992
FREM1Manitoba oculotrichoanal syndrome, 248450; Bifid nose with or without anorectal and renal anomalies, 608980; Trigonocephaly 2, 614485608944
FREM2Fraser syndrome 2, 617666; Cryptophthalmos, unilateral or bilateral, isolated, 123570608945
FRMD4A?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819616305
FRMD5Neurodevelopmental disorder with eye movement abnormalities and ataxia, 620094616309
FRMD7Nystagmus, infantile periodic alternating, X-linked, 310700, X-linked; Nystagmus 1, congenital, X-linked, 310700, X-linked300628
FRMPD4Intellectual developmental disorder, X-linked 104, 300983, X-linked300838
FRRS1LDevelopmental and epileptic encephalopathy 37, 616981604574
FRZB{Osteoarthritis susceptibility 1}, 165720, Multifactorial605083
FSCN2Retinitis pigmentosa 30, 607921607643
FSHBHypogonadotropic hypogonadism 24 without anosmia, 229070136530
FSHROvarian hyperstimulation syndrome, 608115; Ovarian dysgenesis 1, 233300136435
FSIP2Spermatogenic failure 34, 618153615796
FTCDGlutamate formiminotransferase deficiency, 229100606806
FTH1Neurodegeneration with brain iron accumulation 9, 620669; ?Hemochromatosis, type 5, 615517134770
FTLHyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159134790
FTOGrowth retardation, developmental delay, facial dysmorphism, 612938; {Obesity, susceptibility to, BMIQ14}, 612460610966
FTSJ1Intellectual developmental disorder, X-linked 9, 309549, X-linked recessive300499
FUCA1Fucosidosis, 230000612280
FUSAmyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030; Essential tremor, hereditary, 4, 614782137070
FUT1[Bombay phenotype], 616754211100
FUT2{Norwalk virus infection, resistance to}; {Vitamin B12 plasma level QTL1}, 612542; [Bombay phenotype, digenic], 616754182100
FUT3[Blood group, Lewis], 618983111100
FUT6[Fucosyltransferase 6 deficiency], 613852136836
FUT8Congenital disorder of glycosylation with defective fucosylation 1, 618005602589
FUZ{Neural tube defects, susceptibility to}, 182940610622
FWSForsythe-Wakeling syndrome, 613606613606
FXNFriedreich ataxia with retained reflexes, 229300; Friedreich ataxia, 229300606829
FXR1Congenital myopathy 9B, proximal, with minicore lesions, 618823; ?Congenital myopathy 9A with respiratory insufficiency and bone fractures, 618822600819
FXYD2Hypomagnesemia 2, renal, 154020601814
FYB1Thrombocytopenia 3, 273900602731
FYCO1Cataract 18, 610019607182
FZD2Omodysplasia 2, 164745600667
FZD4Retinopathy of prematurity, 133780; Exudative vitreoretinopathy 1, 133780604579
FZD5Microphthalmia/coloboma 11, 620731601723
FZD6Nail disorder, nonsyndromic congenital, 1, 161050603409
FZR1Developmental and epileptic encephalopathy 109, 620145603619
G6PC1Glycogen storage disease Ia, 232200613742
G6PC3Dursun syndrome, 612541; Neutropenia, severe congenital 4, 612541611045
G6PDAnemia, congenital, nonspherocytic hemolytic, 1, G6PD deficient, 300908, X-linked; {Resistance to malaria due to G6PD deficiency}, 611162305900
GAAGlycogen storage disease II, 232300606800
GAB1?Deafness 26, 605428604439
GABBR1Neurodevelopmental disorder with language delay and variable cognitive abnormalities, 620502603540
GABBR2{Nicotine dependence, protection against}, 188890; {Nicotine dependence, susceptibility to}, 188890; Developmental and epileptic encephalopathy 59, 617904; Neurodevelopmental disorder with poor language and loss of hand skills, 617903607340
GABRA1{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136; Developmental and epileptic encephalopathy 19, 615744; {Epilepsy, childhood absence, susceptibility to, 4}, 611136137160
GABRA2Developmental and epileptic encephalopathy 78, 618557; {Alcohol dependence, susceptibility to}, 103780, Multifactorial137140
GABRA3Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, 301091, X-linked305660
GABRA5Developmental and epileptic encephalopathy 79, 618559137142
GABRB1Developmental and epileptic encephalopathy 45, 617153137190
GABRB2Developmental and epileptic encephalopathy 92, 617829600232
GABRB3{Epilepsy, childhood absence, susceptibility to, 5}, 612269; Developmental and epileptic encephalopathy 43, 617113137192
GABRD{?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, 613060137163
GABRG2Developmental and epileptic encephalopathy 74, 618396; Febrile seizures, familial, 8, 607681; Generalized epilepsy with febrile seizures plus, type 3, 607681137164
GAD1Developmental and epileptic encephalopathy 89, 619124605363
GAL?Epilepsy, familial temporal lobe, 8, 616461137035
GALCKrabbe disease, 245200606890
GALEThrombocytopenia 13, syndromic, 620776; Galactose epimerase deficiency, 230350606953
GALK1Galactokinase deficiency with cataracts, 230200604313
GALMGalactosemia IV, 618881137030
GALNSMucopolysaccharidosis IVA, 253000612222
GALNT12{Colorectal cancer, susceptibility to, 1}, 608812610290
GALNT2Congenital disorder of glycosylation, type IIt, 618885602274
GALNT3Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900601756
GALTGalactosemia, 230400606999
GAMTCerebral creatine deficiency syndrome 2, 612736601240
GANGiant axonal neuropathy-1, 256850605379
GANABPolycystic kidney disease 3, 600666104160
GARS1Spinal muscular atrophy, infantile, James type, 619042; Neuronopathy, distal hereditary motor 5, 600794; Charcot-Marie-Tooth disease, type 2D, 601472600287
GAS2?Deafness 125, 620877602835
GAS2L2?Ciliary dyskinesia, primary, 41, 618449611398
GAS8Ciliary dyskinesia, primary, 33, 616726605178
GATA1Anemia, congenital, nonspherocytic hemolytic, 9, 301083, X-linked recessive; Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 159595; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367, X-linked recessive; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835, X-linked recessive; Thrombocytopenia with beta-thalassemia, X-linked, 314050, X-linked recessive305371
GATA2{Leukemia, acute myeloid, susceptibility to}, 601626, Somatic mutation; Emberger syndrome, 614038; Immunodeficiency 21, 614172; {Myelodysplastic syndrome, susceptibility to}, 614286137295
GATA3Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255131320
GATA4Tetralogy of Fallot, 187500; Atrial septal defect 2, 607941; Ventricular septal defect 1, 614429; Atrioventricular septal defect 4, 614430; ?Testicular anomalies with or without congenital heart disease, 615542600576
GATA5Congenital heart defects, multiple types, 5, 617912611496
GATA6Atrial septal defect 9, 614475; Persistent truncus arteriosus, 217095; Pancreatic agenesis and congenital heart defects, 600001; Atrioventricular septal defect 5, 614474; Tetralogy of Fallot, 187500601656
GATAD1?Cardiomyopathy, dilated, 2B, 614672614518
GATAD2BGAND syndrome, 615074614998
GATB?Combined oxidative phosphorylation deficiency 41, 618838603645
GATCCombined oxidative phosphorylation deficiency 42, 618839617210
GATMCerebral creatine deficiency syndrome 3, 612718; Fanconi renotubular syndrome 1, 134600602360
GBA1{Lewy body dementia, susceptibility to}, 127750; Gaucher disease, type II, 230900; Gaucher disease, type IIIC, 231005; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, perinatal lethal, 608013; {Parkinson disease, late-onset, susceptibility to}, 168600, Multifactorial606463
GBA2Spastic paraplegia 46, 614409609471
GBD2Gallbladder disease 2, 609918609918
GBD3Gallbladder disease 3, 609919609919
GBE1Glycogen storage disease IV, 232500; Polyglucosan body disease, adult form, 263570607839
GBF1Charcot-Marie-Tooth disease, axonal, type 2GG, 606483603698
GCCD3Glucocorticoid deficiency 3, 609197609197
GCDHGlutaricaciduria, type I, 231670608801
GCGRMahvash disease, 619290138033
GCH1Dystonia, DOPA-responsive, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910600225
GCKMODY, type II, 125851; Diabetes mellitus, permanent neonatal 1, 606176; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Diabetes mellitus, noninsulin-dependent, late onset, 125853138079
GCKR[Fasting plasma glucose level QTL 5], 613463600842
GCLC{Myocardial infarction, susceptibility to}, 608446; Anemia, congenital, nonspherocytic hemolytic, 7, 230450606857
GCLM{Myocardial infarction, susceptibility to}, 608446601176
GCM2Hypoparathyroidism, familial isolated 2, 618883; Hyperparathyroidism 4, 617343603716
GCNASpermatogenic failure, X-linked, 4, 301077, X-linked300369
GCNT2[Blood group, Ii], 110800; Adult i phenotype without cataract, 110800; Cataract 13 with adult i phenotype, 116700600429
GCSHMultiple mitochondrial dysfunctions syndrome 7, 620423238330
GDAP1Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, 608340; Charcot-Marie-Tooth disease, axonal, type 2K, 607831; Charcot-Marie-Tooth disease, type 4A, 214400606598
GDAP2Spinocerebellar ataxia 27, 618369618128
GDF1Congenital heart defects, multiple types, 6, 613854; Right atrial isomerism (Ivemark), 208530602880
GDF11?Vertebral hypersegmentation and orofacial anomalies, 619122603936
GDF15{Hyperemesis gravidarum, susceptibility to}, 620730605312
GDF2Telangiectasia, hereditary hemorrhagic, type 5, 615506605120
GDF3Klippel-Feil syndrome 3, 613702; Microphthalmia, isolated, with coloboma 6, 613703; Microphthalmia, isolated 7, 613704606522
GDF5Acromesomelic dysplasia 2A, 200700; Acromesomelic dysplasia 2B, 228900; Multiple synostoses syndrome 2, 610017; Symphalangism, proximal, 1B, 615298; Brachydactyly, type A2, 112600; ?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250; Brachydactyly, type C, 113100; {Osteoarthritis-5}, 612400; Brachydactyly, type A1, C, 615072601146
GDF6Microphthalmia with coloboma 6, digenic, 613703; Microphthalmia, isolated 4, 613094; Leber congenital amaurosis 17, 615360; Multiple synostoses syndrome 4, 617898; Klippel-Feil syndrome 1, 118100601147
GDF9Premature ovarian failure 14, 618014601918
GDI1Intellectual developmental disorder, X-linked 41, 300849, X-linked dominant300104
GDNF{Hirschsprung disease, susceptibility to, 3}, 613711600837
GEFSP4Generalized epilepsy with febrile seizures plus, type 4, 609800609800
GEFSP6Generalized epilepsy with febrile seizures plus, type 6, 612279612279
GEFSP7Generalized epilepsy with febrile seizures plus, type 7, 613863613863
GEFSP8Generalized epilepsy with febrile seizures plus, type 8, 613828613828
GEMIN4Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913606969
GEMIN5Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, 619333607005
GERGastroesophageal reflux, 109350109350
GET3?Cardiomyopathy, dilated, 2H, 620203601913
GET4?Congenital disorder of glycosylation, type IIy, 620200612056
GEVQ1{Gene expression, variation in, QTL}, 608875608875
GEVQ2{Gene expression, variation in, QTL}, 608878608878
GFAPAlexander disease, 203450137780
GFERMyopathy, mitochondrial progressive, with congenital cataract and developmental delay, 613076600924
GFI1?Neutropenia, nonimmune chronic idiopathic, of adults, 607847; Neutropenia, severe congenital 2, 613107600871
GFI1BBleeding disorder, platelet-type, 17, 187900604383
GFM1Combined oxidative phosphorylation deficiency 1, 609060606639
GFM2Combined oxidative phosphorylation deficiency 39, 618397606544
GFND1Glomerulopathy with fibronectin deposits 1, 137950137950
GFPT1Myasthenia, congenital, 12, with tubular aggregates, 610542138292
GFRA1Renal hypodysplasia/aplasia 4, 619887601496
GGCXVitamin K-dependent clotting factors, combined deficiency of, 1, 277450; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842137167
GGNSpermatogenic failure 69, 619826609966
GGPS1Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, 619518606982
GGT1?Glutathioninuria, 231950612346
GGT2P[Gamma-glutamyltransferase, familial high serum], 137181137181
GH1Kowarski syndrome, 262650; Growth hormone deficiency, isolated, type II, 173100; Growth hormone deficiency, isolated, type IB, 612781; Growth hormone deficiency, isolated, type IA, 262400139250
GHRLaron dwarfism, 262500; Increased responsiveness to growth hormone, 604271; Growth hormone insensitivity, partial, 604271; {Hypercholesterolemia, familial, modifier of}, 143890600946
GHRHGigantism due to GHRF hypersecretion; ?Isolated growth hormone deficiency due to defect in GHRF139190
GHRHRGrowth hormone deficiency, isolated, type IV, 618157139191
GHRL{Obesity, susceptibility to}, 601665, Multifactorial605353
GHSRGrowth hormone deficiency, isolated partial, 615925601898
GIGYF2{Parkinson disease 11}, 607688612003
GIMAP5Portal hypertension, noncirrhotic, 2, 619463608086
GINGF2Fibromatosis, gingival, 2, 605544605544
GINGF3Fibromatosis, gingival, 3, 609955609955
GINGF4Fibromatosis, gingival, 4, 611010611010
GINS1Immunodeficiency 55, 617827610608
GIPC1Oculopharyngodistal myopathy 2, 618940605072
GIPC3Deafness 15, 601869608792
GJA1Erythrokeratodermia variabilis et progressiva 3, 617525; Craniometaphyseal dysplasia, 218400; Oculodentodigital dysplasia, 164200; Palmoplantar keratoderma with congenital alopecia, 104100; Syndactyly, type III, 186100; Oculodentodigital dysplasia, 257850121014
GJA3Cataract 14, multiple types, 601885121015
GJA5Atrial fibrillation, familial, 11, 614049; Atrial standstill, digenic (GJA5/SCN5A), 108770121013
GJA8Cataract 1, multiple types, 116200600897
GJB1Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800, X-linked dominant304040
GJB2Keratoderma, palmoplantar, with deafness, 148350; Deafness 1A, 220290, Digenic dominant; Deafness 3A, 601544; Hystrix-like ichthyosis with deafness, 602540; Bart-Pumphrey syndrome, 149200; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500121011
GJB3Deafness, digenic, GJB2/GJB3, 220290, Digenic dominant; Erythrokeratodermia variabilis et progressiva 1, 133200; Deafness 2B, with or without peripheral neuropathy, 612644603324
GJB4Erythrokeratodermia variabilis et progressiva 2, 617524605425
GJB6Ectodermal dysplasia 2, Clouston type, 129500; Deafness 3B, 612643; Deafness 1B, 612645; Deafness, digenic GJB2/GJB6, 220290, Digenic dominant604418
GJC2Lymphatic malformation 3, 613480; ?Spastic paraplegia 44, 613206; Leukodystrophy, hypomyelinating, 2, 608804608803
GKGlycerol kinase deficiency, 307030, X-linked recessive300474
GLAFabry disease, cardiac variant, 301500, X-linked; Fabry disease, 301500, X-linked300644
GLB1GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type II, 230600611458
GLC1BGlaucoma 1B, primary open angle, adult onset, 606689606689
GLC1CGlaucoma 1C, primary open angle, 601682601682
GLC1DGlaucoma 1D, primary open angle, 602429602429
GLC1IGlaucoma 1, open angle, I, 609745609745
GLC1JGlaucoma, primary open angle, juvenile-onset, 2, 608695608695
GLC1KGlaucoma 1K, primary open angle, juvenile-onset, 608696608696
GLC1MGlaucoma 1, open angle, M, 610535610535
GLC1NGlaucoma 1, open angle, N, 611274611274
GLC3BGlaucoma 3, primary infantile, B, 600975600975
GLC3CGlaucoma 3, primary congenital, C, 613085613085
GLCCI1{Glucocorticoid therapy, response to}, 614400614283
GLDCGlycine encephalopathy1, 605899238300
GLDNLethal congenital contracture syndrome 11, 617194608603
GLE1Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890603371
GLI1Polydactyly, preaxial I, 174400; Polydactyly, postaxial, type A8, 618123165220
GLI2Culler-Jones syndrome, 615849; Holoprosencephaly 9, 610829165230
GLI3Greig cephalopolysyndactyly syndrome, 175700; Polydactyly, postaxial, types A1 and B, 174200; Pallister-Hall syndrome, 146510; Polydactyly, preaxial, type IV, 174700165240
GLIS2Nephronophthisis 7, 611498608539
GLIS3Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199610192
GLM4{Glioma susceptibility 4}, 607248607248
GLM5{Glioma susceptibility 5}, 613030613030
GLM6{Glioma susceptibility 6}, 613031613031
GLM8{Glioma susceptibility 8}, 613033613033
GLMNGlomuvenous malformations, 138000601749
GLRA1Hyperekplexia 1, 149400138491
GLRA2Intellectual developmental disorder, X-linked syndromic, Pilorge type, 301076, X-linked305990
GLRBHyperekplexia 2, 614619138492
GLRX5Anemia, sideroblastic, 3, pyridoxine-refractory, 616860; Spasticity, childhood-onset, with hyperglycinemia, 616859609588
GLSGlobal developmental delay, progressive ataxia, and elevated glutamine, 618412; ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339; Developmental and epileptic encephalopathy 71, 618328138280
GLUD1Hyperinsulinism-hyperammonemia syndrome, 606762138130
GLULGlutamine deficiency, congenital, 610015; Developmental and epileptic encephalopathy 116, 620806138290
GLYCTKD-glyceric aciduria, 220120610516
GM2AGM2-gangliosidosis, AB variant, 272750613109
GMNNMeier-Gorlin syndrome 6, 616835602842
GMPPAAlacrima, achalasia, and impaired intellectual development syndrome, 615510615495
GMPPBMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14, 615351; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350615320
GNA11Hypocalciuric hypercalcemia, type II, 145981; Hypocalcemia 2, 615361139313
GNAI1Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, 619854139310
GNAI2Ventricular tachycardia, idiopathic, 192605; Pituitary adenoma, ACTH-secreting, somatic139360
GNAI3Auriculocondylar syndrome 1, 602483139370
GNALDystonia 25, 615073139312
GNAO1Developmental and epileptic encephalopathy 17, 615473; Neurodevelopmental disorder with involuntary movements, 617493139311
GNAQCapillary malformations, congenital, 1, somatic, mosaic, 163000; Sturge-Weber syndrome, somatic, mosaic, 185300600998
GNASACTH-independent macronodular adrenal hyperplasia, 219080, Somatic mutation; Pituitary adenoma 3, multiple types, somatic, 617686; Pseudohypoparathyroidism Ic, 612462; Pseudohypoparathyroidism Ia, 103580; Osseous heteroplasia, progressive, 166350; Pseudohypoparathyroidism Ib, 603233; McCune-Albright syndrome, somatic, mosaic, 174800; Pseudopseudohypoparathyroidism, 612463139320
GNAS-AS1Pseudohypoparathyroidism Ib, 603233610540
GNAT1Night blindness, congenital stationary 3, 610444; Night blindness, congenital stationary, type 1G, 616389139330
GNAT2Achromatopsia 4, 613856139340
GNB1Myelodysplastic syndrome, somatic, 614286; Leukemia, acute lymphoblastic, somatic, 613065; Intellectual developmental disorder 42, 616973139380
GNB2Neurodevelopmental disorder with hypotonia and dysmorphic facies, 619503; ?Sick sinus syndrome 4, 619464139390
GNB3Night blindness, congenital stationary, type 1H, 617024; {Hypertension, essential, susceptibility to}, 145500, Multifactorial139130
GNB4Charcot-Marie-Tooth disease, dominant intermediate F, 615185610863
GNB5Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia, 617182; Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia, 617173604447
GNESialuria, 269921; Thrombocytopenia 12 with or without myopathy, 620757; Nonaka myopathy, 605820603824
GNMTGlycine N-methyltransferase deficiency, 606664606628
GNPATRhizomelic chondrodysplasia punctata, type 2, 222765602744
GNPNAT1?Rhizomelic dysplasia, Ain-Naz type, 616510616510
GNPTABMucolipidosis III alpha/beta, 252600; Mucolipidosis II alpha/beta, 252500607840
GNPTGMucolipidosis III gamma, 252605607838
GNRH1?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841152760
GNRHRHypogonadotropic hypogonadism 7 without anosmia, 146110138850
GNSMucopolysaccharidosis type IIID, 252940607664
GOLGA2Developmental delay with hypotonia, myopathy, and brain abnormalities, 620240602580
GON7Galloway-Mowat syndrome 9, 619603617436
GORABGeroderma osteodysplasticum, 231070607983
GOSR2Epilepsy, progressive myoclonic 6, 614018; Muscular dystrophy, congenital, with or without seizures, 620166604027
GOT1Aspartate aminotransferase, serum level of, QTL1, 614419138180
GOT2Developmental and epileptic encephalopathy 82, 618721138150
GP1BABernard-Soulier syndrome, type A1 (recessive), 231200; Bernard-Soulier syndrome, type A2 (dominant), 153670; von Willebrand disease, platelet-type, 177820; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660606672
GP1BBGiant platelet disorder, isolated, 231200; Bernard-Soulier syndrome, type B, 231200138720
GP6Bleeding disorder, platelet-type, 11, 614201605546
GP9Bernard-Soulier syndrome, type C, 231200173515
GPAA1Glycosylphosphatidylinositol biosynthesis defect 15, 617810603048
GPC3Wilms tumor, somatic, 194070; Simpson-Golabi-Behmel syndrome, type 1, 312870, X-linked recessive300037
GPC4Keipert syndrome, 301026, X-linked recessive300168
GPC6Omodysplasia 1, 258315604404
GPD1Hypertriglyceridemia, transient infantile, 614480138420
GPD1LBrugada syndrome 2, 611777611778
GPD2{Type 2 diabetes mellitus, susceptibility to}, 125853138430
GPDS1Ocular pigment dispersion with or without glaucoma, 600510600510
GPHNMolybdenum cofactor deficiency C, 615501603930
GPIAnemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient, 613470172400
GPIHBP1Hyperlipoproteinemia, type 1D, 615947612757
GPNMBAmyloidosis, primary localized cutaneous, 3, 617920604368
GPR101Pituitary adenoma 2, GH-secreting, 300943, X-linked300393
GPR143Ocular albinism, type I, Nettleship-Falls type, 300500, X-linked; Nystagmus 6, congenital, X-linked, 300814, X-linked recessive300808
GPR156Deafness 121, 620551610464
GPR161{Medulloblastoma predisposition syndrome}, 155255, Somatic mutation612250
GPR179Night blindness, congenital stationary (complete), 1E, 614565614515
GPR68Amelogenesis imperfecta, hypomaturation type, IIA6, 617217601404
GPR88?Chorea, childhood-onset, with psychomotor retardation, 616939607468
GPRASP2?Deafness, X-linked 7, 301018, X-linked recessive300969
GPRC5BMegalencephalic leukoencephalopathy with subcortical cysts 3, 620447605948
GPSM2Chudley-McCullough syndrome, 604213609245
GPT2Neurodevelopmental disorder with microcephaly and spastic paraplegia, 616281138210
GPX1Hemolytic anemia due to glutathione peroxidase deficiency, 614164138320
GPX4Spondylometaphyseal dysplasia, Sedaghatian type, 250220138322
GRAPDeafness 114, 618456604330
GRD1{Graves disease, susceptibility to, 1}, 275000275000
GRD2{Graves disease, susceptibility to, 2}, 603388603388
GRDX{Graves disease, susceptibility to, X-linked}, 300351300351
GREB1LDeafness 80, 619274; Renal hypodysplasia/aplasia 3, 617805617782
GREM2Tooth agenesis, selective, 9, 617275608832
GRHL2Deafness 28, 608641; Ectodermal dysplasia/short stature syndrome, 616029; Corneal dystrophy, posterior polymorphous, 4, 618031608576
GRHL3van der Woude syndrome 2, 606713608317
GRHPRHyperoxaluria, primary, type II, 260000604296
GRIA1?Intellectual developmental disorder 76, 619931; Intellectual developmental disorder 67, 619927138248
GRIA2Neurodevelopmental disorder with language impairment and behavioral abnormalities, 618917138247
GRIA3Intellectual developmental disorder, X-linked syndromic, Wu type, 300699, X-linked recessive305915
GRIA4Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864138246
GRID2Spinocerebellar ataxia 18, 616204602368
GRIK2Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, 619580; Intellectual developmental disorder 6, 611092138244
GRIN1Neurodevelopmental disorder with or without hyperkinetic movements and seizures, 617820; Developmental and epileptic encephalopathy 101, 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, 614254138249
GRIN2AEpilepsy, focal, with speech disorder and with or without impaired intellectual development, 245570138253
GRIN2BDevelopmental and epileptic encephalopathy 27, 616139; Intellectual developmental disorder 6, with or without seizures, 613970138252
GRIN2DDevelopmental and epileptic encephalopathy 46, 617162602717
GRIP1Fraser syndrome 3, 617667604597
GRK1Oguchi disease-2, 613411180381
GRM1Spinocerebellar ataxia 13, 614831; Spinocerebellar ataxia 44, 617691604473
GRM6Night blindness, congenital stationary (complete), 1B, 257270604096
GRM7Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, 618922604101
GRNFrontotemporal dementia 2, 607485; Aphasia, primary progressive, 607485; Ceroid lipofuscinosis, neuronal, 11, 614706138945
GRXCR1Deafness 25, 613285613283
GRXCR2?Deafness 101, 615837615762
GSCShort stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471138890
GSDMEDeafness 5, 600994608798
GSM1Geniospasm, 190100190100
GSNAmyloidosis, Finnish type, 105120137350
GSRAnemia, congenital, nonspherocytic hemolytic, 10, glutathione reductase deficient, 618660138300
GSSAnemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient, 266130; Glutathione synthetase deficiency, 266130601002
GSTZ1[Maleylacetoacetate isomerase deficiency], 617596603758
GSX2Diencephalic-mesencephalic junction dysplasia syndrome 2, 618646616253
GTF2E2Trichothiodystrophy 6, nonphotosensitive, 616943189964
GTF2H5Trichothiodystrophy 3, photosensitive, 616395608780
GTPBP1Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, 620888602245
GTPBP2Jaberi-Elahi syndrome, 617988607434
GTPBP3Combined oxidative phosphorylation deficiency 23, 616198608536
GUCA1ACone-rod dystrophy 14, 602093; Cone dystrophy-3, 602093600364
GUCA1BRetinitis pigmentosa 48, 613827602275
GUCY1A1Moyamoya 6 with achalasia, 615750139396
GUCY2CDiarrhea 6, 614616; Meconium ileus, 614665601330
GUCY2DCone-rod dystrophy 6, 601777; ?Choroidal dystrophy, central areolar 1, 215500; Leber congenital amaurosis 1, 204000; Night blindness, congenital stationary, type 1I, 618555600179
GUF1?Developmental and epileptic encephalopathy 40, 617065617064
GULOPScurvy240400
GUSBMucopolysaccharidosis VII, 253220611499
GYG1?Glycogen storage disease XV, 613507; Polyglucosan body myopathy 2, 616199603942
GYPA{Malaria, resistance to}, 611162; [Blood group, MNSs system], 111300617922
GYPB[Blood group, Ss], 111740; {Malaria, resistance to}, 611162617923
GYPC[Blood group, Gerbich], 616089; {Malaria, resistance to}, 611162110750
GYS1Glycogen storage disease 0, muscle, 611556138570
GYS2Glycogen storage disease 0, liver, 240600138571
GZF1Joint laxity, short stature, and myopia, 617662613842
H1-4Rahman syndrome, 617537142220
H3-3ABryant-Li-Bhoj neurodevelopmental syndrome 1, 619720601128
H3-3BBryant-Li-Bhoj neurodevelopmental syndrome 2, 619721601058
H4C11?Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2, 619759602826
H4C3Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1, 619758602827
H4C5Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3, 619950602830
H4C9Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 4, 619951602833
H6PDCortisone reductase deficiency 1, 604931138090
HAAOVertebral, cardiac, renal, and limb defects syndrome 1, 617660604521
HABP2{?Thyroid cancer, nonmedullary, 5}, 616535; {Venous thromboembolism, susceptibility to}, 188050603924
HACD1Congenital myopathy 11, 619967610467
HACE1Spastic paraplegia and psychomotor retardation with or without seizures, 616756610876
HADHHyperinsulinemic hypoglycemia, familial, 4, 609975; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530601609
HADHAHELLP syndrome, maternal, of pregnancy, 609016; LCHAD deficiency, 609016; Mitochondrial trifunctional protein deficiency 1, 609015; Fatty liver, acute, of pregnancy, 609016600890
HADHBMitochondrial trifunctional protein deficiency 2, 620300143450
HAGH[Glyoxalase II deficiency], 614033138760
HAL[Histidinemia], 235800609457
HAMPHemochromatosis, type 2B, 613313606464
HARS1Charcot-Marie-Tooth disease, axonal, type 2W, 616625; Usher syndrome type 3B, 614504142810
HARS2Perrault syndrome 2, 614926600783
HAVCR2T-cell lymphoma, subcutaneous panniculitis-like, 618398606652
HAX1Neutropenia, severe congenital 3, 610738605998
HBA1Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131; Heinz body anemias, alpha-, 140700; Methemoglobinemia, alpha type, 617973; Erythrocytosis, familial, 7, 617981141800
HBA2Heinz body anemia, 140700; Thalassemia, alpha-, 604131; Erythrocytosis, familial, 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978141850
HBBMethemoglobinemia, beta type, 617971; Thalassemia-beta, dominant inclusion-body, 603902; Sickle cell disease, 603903; Thalassemia, beta, 613985; Delta-beta thalassemia, 141749; {Malaria, resistance to}, 611162; Hereditary persistence of fetal hemoglobin, 141749; Erythrocytosis, familial, 6, 617980; Heinz body anemia, 140700141900
HBDThalassemia due to Hb Lepore; Thalassemia, delta-142000
HBEGF{Diphtheria, susceptibility to}126150
HBFQTL2Fetal hemoglobin quantitative trait locus 2, 142470142470
HBFQTL4Fetal hemoglobin quantitative trait locus 4, 606789606789
HBG1Fetal hemoglobin quantitative trait locus 1, 141749142200
HBG2Fetal hemoglobin quantitative trait locus 1, 141749; Cyanosis, transient neonatal, 613977142250
HCA1Hypercalciuria, absorptive, 607258607258
HCCSLinear skin defects with multiple congenital anomalies 1, 309801, X-linked dominant300056
HCFC1Methylmalonic aciduria and homocysteinemia, cblX type, 309541, X-linked recessive300019
HCHGQ1[Hematocrit/hemoglobin quantitative trait locus 1], 609319609319
HCHGQ2[Hematocrit/hemoglobin quantitative trait locus 2], 609320609320
HCHGQ3[Hematocrit/hemoglobin quantitative trait locus 3], 613284613284
HCKAutoinflammation with pulmonary and cutaneous vasculitis, 620296142370
HCN1Developmental and epileptic encephalopathy 24, 615871; Generalized epilepsy with febrile seizures plus, type 10, 618482602780
HCN2Febrile seizures, familial, 2, 602477; {Epilepsy, idiopathic generalized, susceptibility to, 17}, 602477; Generalized epilepsy with febrile seizures plus, type 11, 602477602781
HCN4Sick sinus syndrome 2, 163800; {Epilepsy, idiopathic generalized, susceptibility to, 18}, 619521; Brugada syndrome 8, 613123605206
HCRT?Narcolepsy 1, 161400602358
HCVS{Human coronavirus sensitivity}, 122460122460
HDAC4Neurodevelopmental disorder with central hypotonia and dysmorphic facies, 619797605314
HDAC6?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863, X-linked dominant300272
HDAC8Cornelia de Lange syndrome 5, 300882, X-linked dominant300269
HDAC9?Auriculocondylar syndrome 4, 620457606543
HDC{Gilles de la Tourette syndrome, susceptibility to}, 137580142704
HDCPH1?Hydrocephalus, 123155123155
HDL3Huntington disease-like 3, 604802604802
HDLC3{High density lipoprotein cholesterol, low serum, 3}, 607687607687
HDLCQ1[High density lipoprotein cholesterol level QTL 1], 606613606613
HDLCQ14High density lipoprotein cholesterol level QTL14, 605201605201
HDLCQ2[High density lipoprotein cholesterol level QTL 2], 607053607053
HDLCQ4[High density lipoprotein cholesterol level QTL 4], 610239610239
HDLCQ5[High density lipoprotein cholesterol level QTL 5], 610761610761
HDLCQ7[High density lipoprotein cholesterol level QTL7], 618979618979
HDPA{Hodgkin disease susceptibility, pseudoautosomal}, 300221300221
HEATR3Diamond-Blackfan anemia 21, 620072614951
HECTD4Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, 620250620209
HECW2Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268617245
HELLSImmunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911603946
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development, 613926611642
HEPHL1?Abnormal hair, joint laxity, and developmental delay, 261990618455
HERC1Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011605109
HERC2Intellectual developmental disorder 38, 615516; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220; [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220605837
HES7Spondylocostal dysostosis 4, 613686608059
HESX1Pituitary hormone deficiency, combined, 5, 182230; Septooptic dysplasia, 182230; Growth hormone deficiency with pituitary anomalies, 182230601802
HEXA[Hex A pseudodeficiency], 272800; GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800606869
HEXBSandhoff disease, infantile, juvenile, and adult forms, 268800606873
HEY?Hairy ears, Y-linked, 425500, Y-linked425500
HFEHemochromatosis, type 1, 235200613609
HFM1Premature ovarian failure 9, 615724615684
HGDAlkaptonuria, 203500607474
HGFDeafness 39, 608265142409
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis pigmentosa 73, 616544610453
HHATNivelon-Nivelon-Mabille syndrome, 600092605743
HHPPHyperhidrosis palmaris et plantaris, 144110144110
HHT3Telangiectasia, hereditary hemorrhagic, type 3, 601101601101
HHT4Telangiectasia, hereditary hemorrhagic, type 4, 610655610655
HHV8S{Human herpesvirus 8, susceptibility to}, 614836614836
HIBCH3-hydroxyisobutryl-CoA hydrolase deficiency, 250620610690
HID1Developmental and epileptic encephalopathy 105 with hypopituitarism, 619983605752
HIKESHILeukodystrophy, hypomyelinating, 13, 616881614908
HINT1Neuromyotonia and axonal neuropathy, 137200601314
HIVEP2Intellectual developmental disorder 43, 616977143054
HJVHemochromatosis, type 2A, 602390608374
HK1Anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient, 235700; Retinitis pigmentosa 79, 617460; Neuropathy, hereditary motor and sensory, Russe type, 605285; Neurodevelopmental disorder with visual defects and brain anomalies, 618547142600
HKDC1Retinitis pigmentosa 92, 619614617221
HLA-A{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579142800
HLA-B{Synovitis, chronic, susceptibility to}; {Abacavir hypersensitivity, susceptibility to}; {Spondyloarthropathy, susceptibility to, 1}, 106300, Multifactorial; {Stevens-Johnson syndrome, susceptibility to}, 608579; {Drug-induced liver injury due to flucloxacillin}; {Toxic epidermal necrolysis, susceptibility to}, 608579142830
HLA-C{Psoriasis susceptibility 1}, 177900, Multifactorial; {HIV-1 viremia, susceptibility to}, 609423142840
HLA-DPB1{Beryllium disease, chronic, susceptibility to}142858
HLA-DQA1{Celiac disease, susceptibility to}, 212750, Multifactorial146880
HLA-DQB1{Celiac disease, susceptibility to}, 212750, Multifactorial; {Multiple sclerosis, susceptibility to, 1}, 126200, Multifactorial; {Creutzfeldt-Jakob disease, variant, resistance to}, 123400604305
HLA-DRB1{Multiple sclerosis, susceptibility to, 1}, 126200, Multifactorial; {Sarcoidosis, susceptibility to, 1}, 181000142857
HLA-G{Asthma, susceptibility to}, 600807142871
HLCSHolocarboxylase synthetase deficiency, 253270609018
HMBSLeukoencephalopathy, porphyria-related, 620711; Encephalopathy, porphyria-related, 620704; Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000609806
HMCN1{Macular degeneration, age-related, 1}, 603075608548
HMGA1{Type 2 diabetes mellitus, susceptibility to}, 125853600701
HMGA2Silver-Russell syndrome 5, 618908600698
HMGB3?Microphthalmia, syndromic 13, 300915, X-linked300193
HMGCLHMG-CoA lyase deficiency, 246450613898
HMGCRMuscular dystrophy, limb-girdle 28, 620375; [Statins, response to], 620410; [Low density lipoprotein cholesterol level QTL 3], 620410142910
HMGCS2HMG-CoA synthase-2 deficiency, 605911600234
HMMR{Breast cancer, susceptibility to}, 114480, Somatic mutation600936
HMOX1Heme oxygenase-1 deficiency, 614034; {Pulmonary disease, chronic obstructive, susceptibility to}, 606963141250
HMSN5Hereditary motor and sensory neuropathy V, 600361600361
HMX1Oculoauricular syndrome, 612109142992
HNF1AHepatic adenoma, somatic, 142330; Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700142410
HNF1BType 2 diabetes mellitus, 125853; Renal cysts and diabetes syndrome, 137920; {Renal cell carcinoma}, 144700189907
HNF4AFanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026; {Diabetes mellitus, noninsulin-dependent}, 125853; MODY, type I, 125850600281
HNFJ3Hyperuricemic nephropathy, familial juvenile, 3, 614227614227
HNMTIntellectual developmental disorder 51, 616739; {Asthma, susceptibility to}, 600807605238
HNP1Hypertensive nephropathy, 608026608026
HNRNPA1?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424; ?Myopathy, distal, 3, 610099; Amyotrophic lateral sclerosis 20, 615426164017
HNRNPA2B1Oculopharyngeal muscular dystrophy 2, 620460; ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422600124
HNRNPCIntellectual developmental disorder 74, 620688164020
HNRNPDLMuscular dystrophy, limb-girdle 3, 609115607137
HNRNPH1Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, 620083601035
HNRNPH2Intellectual developmental disorder, X-linked syndromic, Bain type, 300986, X-linked dominant300610
HNRNPKAu-Kline syndrome, 616580600712
HNRNPRNeurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, 620073607201
HNRNPUDevelopmental and epileptic encephalopathy 54, 617391602869
HOGA1Hyperoxaluria, primary, type III, 613616613597
HOMER2?Deafness 68, 616707604799
HOXA1Bosley-Salih-Alorainy syndrome, 601536; Athabaskan brainstem dysgenesis syndrome, 601536142955
HOXA11Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432142958
HOXA13Hand-foot-genital syndrome, 140000; ?Guttmacher syndrome, 176305142959
HOXA2Microtia with or without hearing impairment (AD), 612290; ?Microtia, hearing impairment, and cleft palate (AR), 612290604685
HOXB1Facial paresis, hereditary congenital, 3, 614744142968
HOXB13{Prostate cancer, hereditary, 9}, 610997604607
HOXC13Ectodermal dysplasia 9, hair/nail type, 614931142976
HOXD10Vertical talus, congenital, 192950; Charcot-Marie-Tooth disease, foot deformity of, 192950142984
HOXD13Syndactyly, type V, 186300; Synpolydactyly 1, 186000; Brachydactyly, type E, 113300; Brachydactyly, type D, 113200; ?Brachydactyly-syndactyly syndrome, 610713142989
HP[Anhaptoglobinemia], 614081; [Hypohaptoglobinemia], 614081140100
HPC10{Prostate cancer, hereditary, 10}, 611100611100
HPC14{Prostate cancer, hereditary, 14}, 611958611958
HPC15{Prostate cancer, hereditary, 15}, 611959611959
HPC3{Prostate cancer, susceptibility to, 3}, 608656608656
HPC4{Prostate cancer, susceptibility to, 4}, 608658608658
HPC5{Prostate cancer, hereditary, 5}, 609299609299
HPC6{Prostate cancer, susceptibility to}, 609558609558
HPC7{Prostate cancer, hereditary, 7}, 610321610321
HPCADystonia 2, torsion, 224500142622
HPCQTL19{Prostate cancer aggressiveness QTL}, 607592607592
HPCX{Prostate cancer, hereditary, X-linked 1}, 300147300147
HPCX2{Prostate cancer, hereditary, X-linked 2}, 300704300704
HPDHawkinsinuria, 140350; Tyrosinemia, type III, 276710609695
HPDLNeurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, 619026; Spastic paraplegia 83, 619027618994
HPE1Holoprosencephaly 1, 236100, Isolated cases236100
HPE6Holoprosencephaly 6, 605934605934
HPE8Holoprosencephaly 8, 609408609408
HPFH2[Fetal hemoglobin QTL5], 142335142335
HPGD?Digital clubbing, isolated congenital, 119900; Hypertrophic osteoarthropathy, primary 1, 259100; Cranioosteoarthropathy, 259100601688
HPLH1Hemophagocytic lymphohistiocytosis, familial, 1, 267700267700
HPPDHypertelorism, preauricular sinus, punctal pits, and deafness, 614187614187
HPRHPHypophosphatemic rickets and hyperparathyroidism, 612089612089
HPRT1Hyperuricemia, HRPT-related, 300323, X-linked recessive; Lesch-Nyhan syndrome, 300322, X-linked recessive308000
HPS1Hermansky-Pudlak syndrome 1, 203300604982
HPS3Hermansky-Pudlak syndrome 3, 614072606118
HPS4Hermansky-Pudlak syndrome 4, 614073606682
HPS5Hermansky-Pudlak syndrome 5, 614074607521
HPS6Hermansky-Pudlak syndrome 6, 614075607522
HPSE2Urofacial syndrome 1, 236730613469
HRAtrichia with papular lesions, 209500; Alopecia universalis, 203655602302
HRASBladder cancer, somatic, 109800; Thyroid carcinoma, follicular, somatic, 188470; Congenital myopathy with excess of muscle spindles, 218040; Nevus sebaceous or woolly hair nevus, somatic, 162900; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Spitz nevus or nevus spilus, somatic, 137550; Costello syndrome, 218040190020
HRGThrombophilia 11 due to HRG deficiency, 613116142640
HRM2Hair, curly, 139450139450
HROBOvarian dysgenesis 11, 620897618611
HRPT3Hyperparathyroidism 3, 610071610071
HRURFHypotrichosis 4, 146550619257
HS2ST1Neurofacioskeletal syndrome with or without renal agenesis, 619194604844
HS3ST6?Angioedema, hereditary, 8, 619367619210
HS6ST1{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880604846
HS6ST2?Paganini-Miozzo syndrome, 301025, X-linked recessive300545
HSCB?Anemia, sideroblastic, 5, 619523608142
HSCR5{Hirschsprung disease, susceptibility to, 5}, 600156600156
HSCR6{Hirschsprung disease, susceptibility to, 6}, 606874606874
HSCR7{Hirschsprung disease, susceptibility to, 7}, 606875606875
HSCR8{Hirschsprung disease, susceptibility to, 8}, 608462608462
HSCR9{Hirschsprung disease, susceptibility to, 9}, 611644611644
HSD11B1Cortisone reductase deficiency 2, 614662600713
HSD11B2Apparent mineralocorticoid excess, 218030614232
HSD17B10HSD10 mitochondrial disease, 300438, X-linked dominant300256
HSD17B13{Fatty liver disease, protection from}, 620116612127
HSD17B3Pseudohermaphroditism, male, with gynecomastia, 264300605573
HSD17B4D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400601860
HSD3B2Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810613890
HSD3B7Bile acid synthesis defect, congenital, 1, 607765607764
HSF2BPPremature ovarian failure 19, 619245604554
HSF4Cataract 5, multiple types, 116800602438
HSN1BNeuropathy, hereditary sensory, type IB, 608088608088
HSPA9Even-plus syndrome, 616854; Anemia, sideroblastic, 4, 182170600548
HSPB1Charcot-Marie-Tooth disease, axonal, type 2F, 606595; Neuronopathy, distal hereditary motor 3, 608634602195
HSPB3?Neuronopathy, distal hereditary motor 4, 613376604624
HSPB8Neuronopathy, distal hereditary motor 2, 158590; Charcot-Marie-Tooth disease, axonal, type 2L, 608673608014
HSPD1Spastic paraplegia 13, 605280; Leukodystrophy, hypomyelinating, 4, 612233118190
HSPG2Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Schwartz-Jampel syndrome, type 1, 255800142461
HSR[Handedness], 139900139900
HTHashimoto thyroiditis, 140300140300
HTC1?Hypertrichosis universalis congenita, Ambras type, 145701145701
HTR1A?Periodic fever, menstrual cycle dependent, 614674109760
HTR2A{Major depressive disorder, response to citalopram therapy in}, 608516; {Obsessive-compulsive disorder, susceptibility to}, 164230; {Schizophrenia, susceptibility to}, 181500182135
HTRA1{Macular degeneration, age-related, neovascular type}, 610149; {Macular degeneration, age-related, 7}, 610149; CARASIL syndrome, 600142; Cerebral arteriopathy, with subcortical infarcts and leukoencephalopathy, type 2, 616779602194
HTRA2{Parkinson disease 13}, 610297; 3-methylglutaconic aciduria, type VIII, 617248606441
HTTLopes-Maciel-Rodan syndrome, 617435; Huntington disease, 143100613004
HTX3?Heterotaxy, visceral, 3, autosomal, 606325606325
HUWE1Intellectual developmental disorder, X-linked syndromic, Turner type, 309590, X-linked300697
HWE1Epilepsy, hot water, 1, 613339613339
HWE2Epilepsy, hot water, 2, 613340613340
HYAL1Mucopolysaccharidosis type IX, 601492607071
HYCC1Leukodystrophy, hypomyelinating, 5, 610532610531
HYD2Tooth agenesis, selective, 2, 602639602639
HYDINCiliary dyskinesia, primary, 5, 608647610812
HYLS1Hydrolethalus syndrome, 236680610693
HYOU1?Immunodeficiency 59 and hypoglycemia, 233600601746
HYP10Hypotrichosis 10, 614238614238
HYPLIP2Hyperlipidemia, combined, 2, 604499604499
HYPT9Hypotrichosis 9, 614237614237
HYSP3Hypospadias 3, autosomal, 146450, Multifactorial146450
HYSP4{Hypospadias 4, X-linked, susceptibility to}, 300856300856
HYT1{Hypertension, essential, susceptibility to, 1}, 145500, Multifactorial603918
HYT2{Hypertension, essential, susceptibility to, 2}, 145500, Multifactorial604329
HYT3{Hypertension, essential, susceptibility to, 3}, 145500, Multifactorial607329
HYT4{Hypertension, essential, susceptibility to, 4}, 145500, Multifactorial608742
HYT5{Hypertension, essential, susceptibility to, 5}, 145500, Multifactorial610261
HYT6{Hypertension, essential, susceptibility to, 6}, 145500, Multifactorial610262
HYT7{Hypertension, essential, susceptibility to, 7}, 610948610948
HYT8{Hypertension, essential, susceptibility to, 8}, 611014611014
IARS1Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093600709
IARS2Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007612801
IBA57Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, 616451615316
IBD11{Inflammatory bowel disease 11}, 191390, Multifactorial191390
IBD12{Inflammatory bowel disease 12}, 612241612241
IBD15{Inflammatory bowel disease 15}, 612255612255
IBD16{Inflammatory bowel disease 16}, 612259612259
IBD18{Inflammatory bowel disease 18}, 612262612262
IBD2{Inflammatory bowel disease 2}, 601458601458
IBD20{Inflammatory bowel disease 20}, 612288612288
IBD21{Inflammatory bowel disease 21}, 612354612354
IBD22{Inflammatory bowel disease 22}, 612380612380
IBD23{Inflammatory bowel disease 23}, 612381612381
IBD24{Inflammatory bowel disease 24}, 612566612566
IBD26{Inflammatory bowel disease 26}, 612639612639
IBD27{Inflammatory bowel disease 27}, 612796612796
IBD3{Inflammatory bowel disease 3}, 604519604519
IBD4{Inflammatory bowel disease 4}, 606675606675
IBD5{Inflammatory bowel disease 5}, 606348606348
IBD6{Inflammatory bowel disease 6}, 606674606674
IBD7{Inflammatory bowel disease 7}, 605225605225
IBD8{Inflammatory bowel disease 8}, 606668606668
IBD9{Inflammatory bowel disease 9}, 608448608448
ICAM1{Malaria, cerebral, susceptibility to}, 611162147840
ICAM4[Blood group, Landsteiner-Wiener], 111250614088
ICOSImmunodeficiency, common variable, 1, 607594604558
ICOSLG?Immunodeficiency 119, 620825605717
IDDM11{Diabetes mellitus, insulin-dependent, 11}, 601208601208
IDDM13{Diabetes mellitus, insulin-dependent, 13}, 601318601318
IDDM15{Diabetes mellitus, insulin-dependent, 15}, 601666601666
IDDM17{Diabetes mellitus, insulin-dependent, 17}, 603266603266
IDDM18{Diabetes mellitus, insulin-dependent, 18}, 605598605598
IDDM23{Diabetes mellitus, insulin-dependent, 23}, 612622612622
IDDM24{Diabetes mellitus, insulin-dependent, 24}, 613006613006
IDDM3{Diabetes mellitus, insulin-dependent, 3}, 600318600318
IDDM4{Diabetes mellitus, insulin-dependent, 4}, 600319600319
IDDM6{Diabetes mellitus, insulin-dependent, 6}, 601941601941
IDDM7{Diabetes mellitus, insulin-dependent, 7}, 600321600321
IDDM8{Diabetes mellitus, insulin-dependent, 8}, 600883600883
IDDMX{Diabetes mellitus, insulin-dependent, X-linked}, 300136300136
IDH1{Glioma, susceptibility to, somatic}, 137800147700
IDH2D-2-hydroxyglutaric aciduria 2, 613657147650
IDH3ARetinitis pigmentosa 90, 619007601149
IDH3BRetinitis pigmentosa 46, 612572604526
IDSMucopolysaccharidosis II, 309900, X-linked recessive300823
IDUAMucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Ih, 607014252800
IER3IP1Microcephaly, epilepsy, and diabetes syndrome, 614231609382
IFIH1Immunodeficiency 95, 619773; Aicardi-Goutieres syndrome 7, 615846; Singleton-Merten syndrome 1, 182250606951
IFITM3{Influenza, severe, susceptibility to}, 614680605579
IFITM5Osteogenesis imperfecta, type V, 610967614757
IFNA1Interferon, alpha, deficiency147660
IFNAR1Immunodeficiency 106, susceptibility to viral infections, 619935107450
IFNAR2{Hepatitis B virus, susceptibility to}, 610424; Immunodeficiency 45, 616669602376
IFNG{Hepatitis C virus, response to therapy of}, 609532; {TSC2 angiomyolipomas, renal, modifier of}, 613254; {Aplastic anemia}, 609135; ?Immunodeficiency 69, mycobacteriosis, 618963; {Tuberculosis, protection against}, 607948; {AIDS, rapid progression to}, 609423147570
IFNGR1{H. pylori infection, susceptibility to}, 600263; Immunodeficiency 27A, mycobacteriosis, AR, 209950; Immunodeficiency 27B, mycobacteriosis, AD, 615978; {Tuberculosis infection, protection against}, 607948; {Tuberculosis, susceptibility to}, 607948; {Hepatitis B virus infection, susceptibility to}, 610424107470
IFNGR2Immunodeficiency 28, mycobacteriosis, 614889147569
IFNL3{Hepatitis C virus infection, response to therapy of}, 609532607402
IFT122Cranioectodermal dysplasia 1, 218330606045
IFT140Short-rib thoracic dysplasia 9 with or without polydactyly, 266920; Retinitis pigmentosa 80, 617781614620
IFT172Retinitis pigmentosa 71, 616394; Bardet-Biedl syndrome 20, 619471; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630607386
IFT27Bardet-Biedl syndrome 19, 615996615870
IFT43?Cranioectodermal dysplasia 3, 614099; ?Retinitis pigmentosa 81, 617871; Short-rib thoracic dysplasia 18 with polydactyly, 617866614068
IFT52Short-rib thoracic dysplasia 16 with or without polydactyly, 617102617094
IFT56Biliary, renal, neurologic, and skeletal syndrome, 619534617453
IFT57?Orofaciodigital syndrome XVIII, 617927606621
IFT74Bardet-Biedl syndrome 22, 617119; Spermatogenic failure 58, 619585; Joubert syndrome 40, 619582608040
IFT80Short-rib thoracic dysplasia 2 with or without polydactyly, 611263611177
IFT81Short-rib thoracic dysplasia 19 with or without polydactyly, 617895605489
IGAD1Immunoglobulin A deficiency, 137100, Isolated cases137100
IGAN1{IgA nephropathy, susceptibility to, 1}, 161950, ?Autosomal dominant161950
IGAN2{IgA nephropathy, susceptibility to, 2}, 613944, ?Autosomal dominant613944
IGBP1?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, 300472, X-linked recessive300139
IGES{?Allergy and asthma susceptibility}, 147061147061
IGF1Insulin-like growth factor I deficiency, 608747147440
IGF1RInsulin-like growth factor I, resistance to, 270450147370
IGF2Silver-Russell syndrome 3, 616489147470
IGF2BP2{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853608289
IGF2RHepatocellular carcinoma, somatic, 114550147280
IGFALSAcid-labile subunit, deficiency of, 615961601489
IGFBP7Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224602867
IGHG2IgG2 deficiency, selective147110
IGHMAgammaglobulinemia 1, 601495147020
IGHMBP2Charcot-Marie-Tooth disease, axonal, type 2S, 616155; Neuronopathy, distal hereditary motor 1, 604320600502
IGKCKappa light chain deficiency, 614102147200
IGLL1Agammaglobulinemia 2, 613500146770
IGSF1Hypothyroidism, central, and testicular enlargement, 300888, X-linked recessive300137
IGSF3?Lacrimal duct defect, 149700603491
IHHemihypertrophy, 235000235000
IHHAcrocapitofemoral dysplasia, 607778; Brachydactyly, type A1, 112500600726
IHPS2Pyloric stenosis, infantile hypertrophic, 2, 610260610260
IHPS3Pyloric stenosis, infantile hypertrophic, 3, 612017612017
IHPS4Pyloric stenosis, infantile hypertrophic, 4, 300711300711
IHPS5Pyloric stenosis, infantile hypertrophic, 5, 612525612525
IKBKBImmunodeficiency 15B, 615592; Immunodeficiency 15A, 618204603258
IKBKGIncontinentia pigmenti, 308300, X-linked dominant; Ectodermal dysplasia and immunodeficiency 1, 300291, X-linked recessive; Immunodeficiency 33, 300636, X-linked recessive; Autoinflammatory disease, systemic, X-linked, 301081, X-linked300248
IKZF1Immunodeficiency, common variable, 13, 616873603023
IKZF3?Immunodeficiency 84, 619437606221
IKZF5Thrombocytopenia, 7, 619130606238
IL10{Rheumatoid arthritis, progression of}, 180300; {Graft-versus-host disease, protection against}, 614395; {HIV-1, susceptibility to}, 609423124092
IL10RAInflammatory bowel disease 28, early onset, 613148146933
IL10RB{Hepatitis B virus, susceptibility to}, 610424; Inflammatory bowel disease 25, early onset, 612567123889
IL11RACraniosynostosis and dental anomalies, 614188600939
IL12BImmunodeficiency 29, mycobacteriosis, 614890161561
IL12RB1Immunodeficiency 30, 614891601604
IL13{Asthma, susceptibility to}, 600807; {Allergic rhinitis, susceptibility to}, 607154147683
IL17F?Candidiasis, familial, 6, 613956606496
IL17RAImmunodeficiency 51, 613953605461
IL17RCCandidiasis, familial, 9, 616445610925
IL17RDHypogonadotropic hypogonadism 18 with or without anosmia, 615267, Digenic dominant606807
IL18BP{?Hepatitis, fulminant viral, susceptibility to}, 618549604113
IL1B{Gastric cancer risk after H. pylori infection}, 613659147720
IL1R1?Chronic recurrent multifocal osteomyelitis 3, 259680147810
IL1RAPL1Intellectual developmental disorder, X-linked 21, 300143, X-linked recessive300206
IL1RNChronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, 612852; {Gastric cancer risk after H. pylori infection}, 613659; {Microvascular complications of diabetes 4}, 612628; Interleukin 1 receptor antagonist deficiency, 612852147679
IL21?Immunodeficiency, common variable, 11, 615767605384
IL21RImmunodeficiency 56, 615207605383
IL23R{Inflammatory bowel disease 17, protection against}, 612261; {Psoriasis, protection against}, 605606607562
IL2RAImmunodeficiency 41 with lymphoproliferation and autoimmunity, 606367; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942147730
IL2RBImmunodeficiency 63 with lymphoproliferation and autoimmunity, 618495146710
IL2RGCombined immunodeficiency, X-linked, moderate, 312863, X-linked recessive; Severe combined immunodeficiency, X-linked, 300400, X-linked recessive308380
IL31RA?Amyloidosis, primary localized cutaneous, 2, 613955609510
IL36RNPsoriasis 14, pustular, 614204605507
IL37?Inflammatory bowel disease (infantile ulcerative colitis) 31, 619398605510
IL6{Type 2 diabetes mellitus}, 125853; {Rheumatoid arthritis, systemic juvenile}, 604302; {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010, Somatic mutation; {Type 1 diabetes mellitus}, 222100; {Kaposi sarcoma in HIV+, susceptibility to}, 148000; {Crohn disease-associated growth failure}, 266600, Multifactorial147620
IL6R[Interleukin 6, serum level of, QTL], 614752; Hyper-IgE syndrome 5, with recurrent infections, 618944; [Interleukin-6 receptor, soluble, serum level of, QTL], 614689147880
IL6STHyper-IgE syndrome 4A, with recurrent infections, 619752; Stuve-Wiedemann syndrome 2, 619751; Hyper-IgE syndrome 4B, with recurrent infections, 618523; ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, 619750600694
IL7{?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309146660
IL7RImmunodeficiency 104, severe combined, 608971146661
ILDR1Deafness 42, 609646609739
IMPA1Intellectual developmental disorder 59, 617323602064
IMPDH1Retinitis pigmentosa 10, 180105; Leber congenital amaurosis 11, 613837146690
IMPDH2[IMPDH2 enzyme activity, variation in], 617995146691
IMPG1Macular dystrophy, vitelliform, 4, 616151; Retinitis pigmentosa 91, 153870602870
IMPG2Retinitis pigmentosa 56, 613581; Macular dystrophy, vitelliform, 5, 616152607056
INAVA{Inflammatory bowel disease 29}, 618077618051
INDXWoods-Black-Norbury syndrome, 300076, X-linked dominant300076
INF2Glomerulosclerosis, focal segmental, 5, 613237; Charcot-Marie-Tooth disease, dominant intermediate E, 614455610982
ING1Squamous cell carcinoma, head and neck, somatic, 275355601566
INPP5EImpaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome, 610156; Joubert syndrome 1, 213300613037
INPP5KMuscular dystrophy, congenital, with cataracts and intellectual disability, 617404607875
INPPL1Opsismodysplasia, 258480600829
INSDiabetes mellitus, insulin-dependent, 2, 125852; Maturity-onset diabetes of the young, type 10, 613370; Hyperproinsulinemia, 616214; Diabetes mellitus, permanent neonatal 4, 618858176730
INSL3Cryptorchidism, 219050146738
INSRRabson-Mendenhall syndrome, 262190; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Donohue syndrome, 246200; Hyperinsulinemic hypoglycemia, familial, 5, 609968147670
INTLQ1{Intelligence QTL1}, 603783603783
INTLQ2{Intelligence QTL3}, 610295610295
INTLQ3{Intelligence QTL3}, 610294610294
INTS1Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571611345
INTS11Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, 620428611354
INTS8?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, 618572611351
INTU?Orofaciodigital syndrome XVII, 617926; ?Short-rib thoracic dysplasia 20 with polydactyly, 617925610621
INVSNephronophthisis 2, infantile, 602088243305
IPO8VISS syndrome, 619472605600
IQCB1Senior-Loken syndrome 5, 609254609237
IQCEPolydactyly, postaxial, type A7, 617642617631
IQCNSpermatogenic failure 78, 620170620160
IQSEC1Intellectual developmental disorder with short stature and behavioral abnormalities, 618687610166
IQSEC2Intellectual developmental disorder, X-linked 1, 309530, X-linked dominant300522
IRAK3{Asthma susceptibility 5}, 611064604459
IRAK4Immunodeficiency 67, 607676606883
IREB2Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, 618451147582
IRF1Nonsmall cell lung cancer, somatic, 211980; Gastric cancer, somatic, 613659; Immunodeficiency 117, mycobacteriosis, 620668147575
IRF2BP2?Immunodeficiency, common variable, 14, 617765615332
IRF2BPLNeurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088611720
IRF3{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532603734
IRF4[Skin/hair/eye pigmentation, variation in, 8], 611724601900
IRF5{Inflammatory bowel disease 14}, 612245; {Systemic lupus erythematosus, susceptibility to, 10}, 612251607218
IRF6{Orofacial cleft 6}, 608864; Popliteal pterygium syndrome 1, 119500; van der Woude syndrome 1, 119300607199
IRF7?Immunodeficiency 39, 616345605047
IRF8Immunodeficiency 32A, mycobacteriosis, 614893; Immunodeficiency 32B, monocyte and dendritic cell deficiency, 226990601565
IRF9Immunodeficiency 65, susceptibility to viral infections, 618648147574
IRGM{Mycobacterium tuberculosis, protection against}, 607948; {Inflammatory bowel disease (Crohn disease) 19}, 612278608212
IRS1{Type 2 diabetes mellitus, susceptibility to}, 125853147545
IRS2{Diabetes mellitus, noninsulin-dependent}, 125853600797
IRS4Hypothyroidism, congenital, nongoitrous, 9, 301035, X-linked recessive300904
IRX5Hamamy syndrome, 611174606195
IS1Scoliosis, idiopathic 1, 181800181800
IS2Scoliosis, idiopathic 2, 607354607354
IS4{Scoliosis, idiopathic, susceptibility to, 4}, 612238612238
IS5{Scoliosis, idiopathic, susceptibility to, 5}, 612239612239
ISCA1Multiple mitochondrial dysfunctions syndrome 5, 617613611006
ISCA2Multiple mitochondrial dysfunctions syndrome 4, 616370615317
ISCUMyopathy with lactic acidosis, hereditary, 255125611911
ISG15Immunodeficiency 38, 616126147571
ITCHAutoimmune disease, multisystem, with facial dysmorphism, 613385606409
ITGA2BThrombocytopenia, neonatal alloimmune, BAK antigen related; Glanzmann thrombasthenia 1, 273800; Bleeding disorder, platelet-type, 16, 187800607759
ITGA3Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, 614748605025
ITGA6Epidermolysis bullosa, junctional 6, with pyloric atresia, 619817147556
ITGA7Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204600536
ITGA8Renal hypodysplasia/aplasia 1, 191830604063
ITGB2Leukocyte adhesion deficiency, 116920600065
ITGB3Bleeding disorder, platelet-type, 24, 619271; Thrombocytopenia, neonatal alloimmune; Purpura, posttransfusion; {Myocardial infarction, susceptibility to}, 608446; Glanzmann thrombasthenia 2, 619267173470
ITGB4Epidermolysis bullosa, junctional 5B, with pyloric atresia, 226730; Epidermolysis bullosa, junctional 5A, intermediate, 619816147557
ITGB6Amelogenesis imperfecta, type IH, 616221147558
ITKLymphoproliferative syndrome 1, 613011186973
ITM2B?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079; Dementia, familial British, 176500; Dementia, familial Danish, 117300603904
ITPA[Inosine triphosphatase deficiency], 613850; Developmental and epileptic encephalopathy 35, 616647147520
ITPR1Gillespie syndrome, 206700; Spinocerebellar ataxia 29, congenital nonprogressive, 117360; Spinocerebellar ataxia 15, 606658147265
ITPR2?Anhidrosis, isolated, with normal sweat glands, 106190600144
ITPR3Charcot-Marie-Tooth disease, demyelinating, type 1J, 620111; {Diabetes, type 1, susceptibility to}, 222100147267
IVDIsovaleric acidemia, 243500607036
IVNS1ABPImmunodeficiency 70, 618969609209
IYDThyroid dyshormonogenesis 4, 274800612025
JAG1?Deafness, congenital heart defects, and posterior embryotoxon, 617992; Charcot-Marie-Tooth disease, axonal, type 2HH, 619574; Alagille syndrome 1, 118450; Tetralogy of Fallot, 187500601920
JAG2Muscular dystrophy, limb-girdle 27, 619566602570
JAGN1Neutropenia, severe congenital, 6, 616022616012
JAK1Autoinflammation, immune dysregulation, and eosinophilia, 618999147795
JAK2{Budd-Chiari syndrome, somatic}, 600880; Myelofibrosis, somatic, 254450; Erythrocytosis, somatic, 133100; Leukemia, acute myeloid, somatic, 601626; Thrombocythemia 3, 614521, Somatic mutation; Polycythemia vera, somatic, 263300147796
JAK3Severe combined immunodeficiency, T-negative/B-positive type, 600802600173
JAM2Basal ganglia calcification, idiopathic, 8, 618824606870
JAM3Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730606871
JARID2Developmental delay with variable intellectual disability and dysmorphic facies, 620098601594
JPH1Congenital myopathy 25, 620964; {?Charcot-Marie-Tooth disease, axonal, type 2K, modifier of}, 607831605266
JPH2Cardiomyopathy, dilated, 2E, 619492; Cardiomyopathy, hypertrophic, 17, 613873605267
JPH3Huntington disease-like 2, 606438605268
JUPNaxos disease, 601214; ?Arrhythmogenic right ventricular dysplasia 12, 611528173325
KANK1Cerebral palsy, spastic quadriplegic, 2, 612900607704
KANK2Nephrotic syndrome, type 16, 617783; Palmoplantar keratoderma and woolly hair, 616099614610
KANSL1Koolen-De Vries syndrome, 610443612452
KARS1Deafness 89, 613916; Leukoencephalopathy, progressive, infantile-onset, with or without deafness, 619147; ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641; Deafness, congenital, and adult-onset progressive leukoencephalopathy, 619196601421
KASH5Spermatogenic failure 88, 620547; Premature ovarian failure 22, 620548618125
KAT5Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities, 619103601409
KAT6AArboleda-Tham syndrome, 616268601408
KAT6BSBBYSS syndrome, 603736; Genitopatellar syndrome, 606170605880
KAT8Li-Ghorgani-Weisz-Hubshman syndrome, 618974609912
KATNB1Lissencephaly 6, with microcephaly, 616212602703
KATNIPJoubert syndrome 26, 616784616650
KAZA1{Kala-azar, susceptibility to, 1}, 608207608207
KAZA2{Kala-azar, susceptibility to, 2}, 611381611381
KAZA3{Kala-azar, susceptibility to, 3}, 611382611382
KBTBD13Nemaline myopathy 6, 609273613727
KCNA1Episodic ataxia/myokymia syndrome, 160120176260
KCNA2Developmental and epileptic encephalopathy 32, 616366176262
KCNA4Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284176266
KCNA5Atrial fibrillation, familial, 7, 612240176267
KCNB1Developmental and epileptic encephalopathy 26, 616056600397
KCNC1Epilepsy, progressive myoclonic 7, 616187176258
KCNC2Developmental and epileptic encephalopathy 103, 619913176256
KCNC3Spinocerebellar ataxia 13, 605259176264
KCND3Spinocerebellar ataxia 19, 607346; Brugada syndrome 9, 616399605411
KCNE1Jervell and Lange-Nielsen syndrome 2, 612347; Long QT syndrome 5, 613695176261
KCNE2Long QT syndrome 6, 613693; Atrial fibrillation, familial, 4, 611493603796
KCNE3?Brugada syndrome 6, 613119604433
KCNH1Zimmermann-Laband syndrome 1, 135500; Temple-Baraitser syndrome, 611816603305
KCNH2Short QT syndrome 1, 609620; Long QT syndrome 2, 613688152427
KCNH5Developmental and epileptic encephalopathy 112, 620537605716
KCNJ1Bartter syndrome, type 2, 241200600359
KCNJ10Enlarged vestibular aqueduct, digenic, 600791; SESAME syndrome, 612780602208
KCNJ11Diabetes, permanent neonatal 2, with or without neurologic features, 618856; {Diabetes mellitus, type 2, susceptibility to}, 125853; Maturity-onset diabetes of the young, type 13, 616329; Diabetes mellitus, transient neonatal 3, 610582; Hyperinsulinemic hypoglycemia, familial, 2, 601820600937
KCNJ13Snowflake vitreoretinal degeneration, 193230; Leber congenital amaurosis 16, 614186603208
KCNJ16Hypokalemic tubulopathy and deafness, 619406605722
KCNJ18{Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239613236
KCNJ2Atrial fibrillation, familial, 9, 613980; Andersen syndrome, 170390; Short QT syndrome 3, 609622600681
KCNJ5Long QT syndrome 13, 613485; Hyperaldosteronism, familial, type III, 613677600734
KCNJ6Keppen-Lubinsky syndrome, 614098600877
KCNK18{Migraine, with or without aura, susceptibility to, 13}, 613656613655
KCNK3Pulmonary hypertension, primary, 4, 615344603220
KCNK4Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381605720
KCNK9Birk-Barel syndrome, 612292605874
KCNMA1{Epilepsy, idiopathic generalized, susceptibility to, 16}, 618596; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643; Liang-Wang syndrome, 618729600150
KCNMB1{Hypertension, diastolic, resistance to}, 608622603951
KCNN2?Dystonia 34, myoclonic, 619724; Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, 619725605879
KCNN3Zimmermann-Laband syndrome 3, 618658602983
KCNN4Dehydrated hereditary stomatocytosis 2, 616689602754
KCNQ1Short QT syndrome 2, 609621; Atrial fibrillation, familial, 3, 607554; Long QT syndrome 1, 192500; {Long QT syndrome 1, acquired, susceptibility to}, 192500; Jervell and Lange-Nielsen syndrome, 220400607542
KCNQ1OT1Beckwith-Wiedemann syndrome, 130650604115
KCNQ2Developmental and epileptic encephalopathy 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200602235
KCNQ3Seizures, benign neonatal, 2, 121201602232
KCNQ4Deafness 2A, 600101603537
KCNQ5Intellectual developmental disorder 46, 617601607357
KCNT1Developmental and epileptic encephalopathy 14, 614959; Epilepsy nocturnal frontal lobe, 5, 615005608167
KCNT2Developmental and epileptic encephalopathy 57, 617771610044
KCNU1Spermatogenic failure 79, 620196615215
KCNV2Retinal cone dystrophy 3B, 610356607604
KCTD1Scalp-ear-nipple syndrome, 181270613420
KCTD17Dystonia 26, myoclonic, 616398616386
KCTD7Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726611725
KDELR2Osteogenesis imperfecta, type XXI, 619131609024
KDF1?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337616758
KDM1ACleft palate, psychomotor retardation, and distinctive facial features, 616728609132
KDM3BDiets-Jongmans syndrome, 618846609373
KDM4BIntellectual developmental disorder 65, 619320609765
KDM5AEl Hayek-Chahrour neurodevelopmental syndrome, 620820180202
KDM5BIntellectual developmental disorder 65, 618109605393
KDM5CIntellectual developmental disorder, X-linked syndromic, Claes-Jensen type, 300534, X-linked recessive314690
KDM6AKabuki syndrome 2, 300867, X-linked dominant300128
KDM6BStolerman neurodevelopmental syndrome, 618505611577
KDR{Hemangioma, capillary infantile, susceptibility to}, 602089; Hemangioma, capillary infantile, somatic, 602089191306
KDSRErythrokeratodermia variabilis et progressiva 4, 617526136440
KEL[Blood group, Kell], 110900613883
KERACornea plana 2, 217300603288
KHDC3LHydatidiform mole, recurrent, 2, 614293611687
KHK?[Fructosuria, essential], 229800614058
KIAA0586Short-rib thoracic dysplasia 14 with polydactyly, 616546; Joubert syndrome 23, 616490610178
KIAA0753?Orofaciodigital syndrome XV, 617127; ?Joubert syndrome 38, 619476; Short-rib thoracic dysplasia 21 without polydactyly, 619479617112
KIAA0825Polydactyly, postaxial, type A10, 618498617266
KIAA1549Retinitis pigmentosa 86, 618613613344
KIDINS220Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296; Ventriculomegaly and arthrogryposis, 619501615759
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development, 152950148760
KIF12Cholestasis, progressive familial intrahepatic, 8, 619662611278
KIF14Microcephaly 20, primary, 617914; ?Meckel syndrome 12, 616258611279
KIF15?Braddock-Carey syndrome 2, 619981617569
KIF1ANESCAV syndrome, 614255; Neuropathy, hereditary sensory, type IIC, 614213; Spastic paraplegia 30, 610357; Spastic paraplegia 30, 620607601255
KIF1B{Neuroblastoma, susceptibility to, 1}, 256700, Somatic mutation; Charcot-Marie-Tooth disease, type 2A1, 118210605995
KIF1CSpastic ataxia 2, 611302603060
KIF20A?Cardiomyopathy, familial restrictive, 6, 619433605664
KIF21AFibrosis of extraocular muscles, congenital, 3B, 135700; Fibrosis of extraocular muscles, congenital, 1, 135700608283
KIF22Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546603213
KIF23Anemia, congenital dyserythropoietic, type IIIA, 105600605064
KIF26ACortical dysplasia, complex, with other brain malformations 11, 620156613231
KIF2ACortical dysplasia, complex, with other brain malformations 3, 615411602591
KIF3BRetinitis pigmentosa 89, 618955603754
KIF4ATaurodontism, microdontia, and dens invaginatus, 313490, X-linked recessive; Intellectual developmental disorder, X-linked 100, 300923, X-linked recessive300521
KIF5AMyoclonus, intractable, neonatal, 617235; {Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921; Spastic paraplegia 10, 604187602821
KIF5CCortical dysplasia, complex, with other brain malformations 2, 615282604593
KIF7Joubert syndrome 12, 200990; Acrocallosal syndrome, 200990; ?Hydrolethalus syndrome 2, 614120; ?Al-Gazali-Bakalinova syndrome, 607131611254
KIFBPGoldberg-Shprintzen megacolon syndrome, 609460609367
KIRREL1Nephrotic syndrome, type 23, 619201607428
KISS1?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842603286
KISS1RHypogonadotropic hypogonadism 8 with or without anosmia, 614837; ?Precocious puberty, central, 1, 176400604161
KITGastrointestinal stromal tumor, familial, 606764, Isolated cases; Mastocytosis, cutaneous, 154800; Piebaldism, 172800; Germ cell tumors, somatic, 273300; Mastocytosis, systemic, somatic, 154800; Leukemia, acute myeloid, somatic, 601626164920
KITLGHyperpigmentation with or without hypopigmentation, 145250; Waardenburg syndrome, type 2F, 619947; Deafness 69, unilateral or asymmetric, 616697; [Skin/hair/eye pigmentation 7, blond/brown hair], 611664184745
KIZRetinitis pigmentosa 69, 615780615757
KL?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994604824
KLC2Spastic paraplegia, optic atrophy, and neuropathy, 609541611729
KLF1Blood group--Lutheran inhibitor, 111150; [Hereditary persistence of fetal hemoglobin], 613566; Anemia, dyserythropoietic congenital, type IVa, 613673; Anemia, congenital dyserythropoietic, type IVb, 620969600599
KLF11Maturity-onset diabetes of the young, type VII, 610508603301
KLF6Gastric cancer, somatic, 613659; Prostate cancer, somatic, 176807602053
KLHDC8B{Hodgkin lymphoma, susceptibility to}, 236000613169
KLHL10Spermatogenic failure 11, 615081608778
KLHL15Intellectual developmental disorder, X-linked 103, 300982, X-linked recessive300980
KLHL24Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, 620236; Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, 617294611295
KLHL3Pseudohypoaldosteronism, type IID, 614495605775
KLHL40Nemaline myopathy 8, 615348615340
KLHL41Nemaline myopathy 9, 615731607701
KLHL7Retinitis pigmentosa 42, 612943; PERCHING syndrome, 617055611119
KLK1[Kallikrein, decreased urinary activity of], 615953147910
KLK11Ichthyosis with erythrokeratoderma, 620507604434
KLK4Amelogenesis imperfecta, type IIA1, 204700603767
KLKB1Fletcher factor (prekallikrein) deficiency, 612423229000
KLLNCowden syndrome 4, 615107612105
KMT2AWiedemann-Steiner syndrome, 605130159555
KMT2BIntellectual developmental disorder 68, 619934; Dystonia 28, childhood-onset, 617284606834
KMT2CKleefstra syndrome 2, 617768606833
KMT2DBranchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, 620186; Kabuki syndrome 1, 147920602113
KMT2EO'Donnell-Luria-Rodan syndrome, 618512608444
KMT5BIntellectual developmental disorder 51, 617788610881
KNG1[Kininogen deficiency], 228960; Angioedema, hereditary, 6, 619363; [High molecular weight kininogen deficiency], 228960612358
KNL1Microcephaly 4, primary, 604321609173
KNSTRN?Roifman-Chitayat syndrome, digenic, 613328, Digenic recessive614718
KONDSKondoh syndrome, 606242606242
KPNA3Spastic paraplegia 88, 620106601892
KPNA7Oocyte/zygote/embryo maturation arrest 17, 620319614107
KPTNIntellectual developmental disorder 41, 615637615620
KRASGastric cancer, somatic, 613659; Oculoectodermal syndrome, somatic, 600268; Breast cancer, somatic, 114480; Noonan syndrome 3, 609942; RAS-associated autoimmune leukoproliferative disorder, 614470; Arteriovenous malformation of the brain, somatic, 108010; Lung cancer, somatic, 211980; Pancreatic carcinoma, somatic, 260350; Leukemia, acute myeloid, somatic, 601626; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Cardiofaciocutaneous syndrome 2, 615278; Bladder cancer, somatic, 109800190070
KREMEN1Ectodermal dysplasia 13, hair/tooth type, 617392609898
KRIT1Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860604214
KRT1Ichthyosis, annular epidermolytic 2, 620148; Palmoplantar keratoderma, nonepidermolytic, 600962; Epidermolytic hyperkeratosis 1, 113800; Palmoplantar keratoderma, epidermolytic, 2, 620411; Keratosis palmoplantaris striata III, 607654; Ichthyosis histrix, Curth-Macklin type, 146590139350
KRT10Ichthyosis, annular epidermolytic 1, 607602; Epidermolytic hyperkeratosis 2B, 620707; Epidermolytic hyperkeratosis 2A, 620150; ?Ichthyosis histrix, Lambert type, 146600; Ichthyosis with confetti, 609165148080
KRT12Meesmann corneal dystrophy 1, 122100601687
KRT13White sponge nevus 2, 615785148065
KRT14Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, 601001; Epidermolysis bullosa simplex 1C, localized, 131800; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex 1A, generalized severe, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; Epidermolysis bullosa simplex 1B, generalized intermediate, 131900148066
KRT16Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia congenita 1, 167200148067
KRT17Steatocystoma multiplex, 184500; Pachyonychia congenita 2, 167210148069
KRT18Cirrhosis, cryptogenic, 215600; {Cirrhosis, noncryptogenic, susceptibility to}, 215600148070
KRT2Ichthyosis bullosa of Siemens, 146800600194
KRT25Woolly hair 3, 616760616646
KRT3Meesmann corneal dystrophy 2, 618767148043
KRT4White sponge nevus 1, 193900123940
KRT5Epidermolysis bullosa simplex 2A, generalized severe, 619555; Dowling-Degos disease 1, 179850; Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, 619599; Epidermolysis bullosa simplex 2B, generalized intermediate, 619588; Epidermolysis bullosa simplex 2C, localized, 619594; Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352148040
KRT6APachyonychia congenita 3, 615726148041
KRT6BPachyonychia congenita 4, 615728148042
KRT6CPalmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735612315
KRT71?Hypotrichosis 13, 615896608245
KRT74Woolly hair, 194300; ?Hypotrichosis 3, 613981; ?Ectodermal dysplasia 7, hair/nail type, 614929608248
KRT75{Pseudofolliculitis barbae, susceptibility to}, 612318609025
KRT81Monilethrix, 158000602153
KRT83Monilethrix, 158000; Erythrokeratodermia variabilis et progressiva 5, 617756602765
KRT85Ectodermal dysplasia 4, hair/nail type, 602032602767
KRT86Monilethrix, 158000601928
KRT9Palmoplantar keratoderma, epidermolytic, 1, 144200607606
KTCN2Keratoconus 2, 608932608932
KTCN3Keratoconus 3, 608586608586
KTCN4Keratoconus 4, 609271609271
KTCN5Keratoconus 5, 614622614622
KTCN6Keratoconus 6, 614623614623
KTCN7Keratoconus 7, 614629614629
KTCN8Keratoconus 8, 614628614628
KTWSKlippel-Trenaunay-Weber syndrome, 149000, Isolated cases149000
KYMyopathy, myofibrillar, 7, 617114605739
KYNU?Hydroxykynureninuria, 236800; Vertebral, cardiac, renal, and limb defects syndrome 2, 617661605197
KYPSC1Kyphoscoliosis 1, 610170610170
L1CAMMASA syndrome, 303350, X-linked recessive; Hydrocephalus, congenital, X-linked, 307000, X-linked recessive; ?Corpus callosum, partial agenesis of, 304100, X-linked recessive308840
L2HGDHL-2-hydroxyglutaric aciduria, 236792609584
LACC1Juvenile arthritis, 618795613409
LAGE3Galloway-Mowat syndrome 2, X-linked, 301006, X-linked recessive300060
LALLLeukemia, acute lymphoblastic, 247640247640
LAMA1Poretti-Boltshauser syndrome, 615960150320
LAMA2Muscular dystrophy, limb-girdle 23, 618138; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855156225
LAMA3Epidermolysis bullosa, junctional 2A, intermediate, 619783; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous, 245660; Epidermolysis bullosa, junctional 2B, severe, 619784600805
LAMA4Cardiomyopathy, dilated, 1JJ, 615235600133
LAMA5Nephrotic syndrome, type 26, 620049; ?Bent bone dysplasia syndrome 2, 620076601033
LAMB1Lissencephaly 5, 615191150240
LAMB2Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; Pierson syndrome, 609049150325
LAMB3Epidermolysis bullosa, junctional 1B, severe, 226700; Epidermolysis bullosa, junctional 1A, intermediate, 226650; Amelogenesis imperfecta, type IA, 104530150310
LAMC2Epidermolysis bullosa, junctional 3B, severe, 619786; Epidermolysis bullosa, junctional 3A, intermediate, 619785150292
LAMC3Cortical malformations, occipital, 614115604349
LAMP2Danon disease, 300257, X-linked dominant309060
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting protein, 610798610389
LAP?Laryngeal adductor paralysis, 150270150270
LARGE1Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, 608840; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154603590
LARP7Alazami syndrome, 615071612026
LARS1?Infantile liver failure syndrome 1, 615438151350
LARS2Perrault syndrome 4, 615300; Hydrops, lactic acidosis, and sideroblastic anemia, 617021604544
LAS1LWilson-Turner syndrome, 309585, X-linked recessive300964
LATImmunodeficiency 52, 617514602354
LBMQTL1[Lean body mass QTL 1], 612729612729
LBRPelger-Huet anomaly, 169400; ?Reynolds syndrome, 613471; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, 618019; Greenberg skeletal dysplasia, 215140600024
LBX1?Central hypoventilation syndrome, congenital, 3, 619483604255
LCA5Leber congenital amaurosis 5, 604537611408
LCATFish-eye disease, 136120; Norum disease, 245900606967
LCKImmunodeficiency 22, 615758153390
LCP2Immunodeficiency 81, 619374601603
LCS1Cholestasis-lymphedema syndrome, 214900214900
LCTLactase deficiency, congenital, 223000603202
LDB3Left ventricular noncompaction 3, 601493; Cardiomyopathy, hypertrophic, 24, 601493; Myopathy, myofibrillar, 4, 609452; Cardiomyopathy, dilated, 1C, with or without LVNC, 601493605906
LDHAGlycogen storage disease XI, 612933150000
LDHB[Lactate dehydrogenase-B deficiency], 614128150100
LDHDD-lactic aciduria with susceptibility to gout, 245450607490
LDLRLDL cholesterol level QTL2, 143890; Hypercholesterolemia, familial, 1, 143890606945
LDLRAP1Hypercholesterolemia, familial, 4, 603813605747
LEMD2Marbach-Rustad progeroid syndrome, 619322; Cataract 46, juvenile-onset, 212500616312
LEMD3Buschke-Ollendorff syndrome, 166700; Osteopoikilosis with or without melorheostosis, 166700607844
LEPObesity, morbid, due to leptin deficiency, 614962164160
LEPQTL1[Leptin serum levels QTL1], 601694601694
LEPRObesity, morbid, due to leptin receptor deficiency, 614963601007
LETM1Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, 620089604407
LFNGSpondylocostal dysostosis 3, 609813602576
LGALS2{Myocardial infarction, susceptibility to}, 608446150571
LGI1Epilepsy, familial temporal lobe, 1, 600512604619
LGI3Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, 620007608302
LGI4Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, 617468608303
LGMD1HMuscular dystrophy, limb-girdle, type 1H, 613530613530
LGR4Delayed puberty, self-limited, 619613; {Bone mineral density, low, susceptibility to}, 615311606666
LGV1[Longevity 1], 152430152430
LGV2[Longevity 2], 606460606460
LHBHypogonadotropic hypogonadism 23 with or without anosmia, 228300152780
LHCGRLeydig cell adenoma, somatic, with precocious puberty, 176410; Leydig cell hypoplasia with pseudohermaphroditism, 238320; Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320; Luteinizing hormone resistance, female, 238320; Precocious puberty, male, 176410152790
LHFPL5Deafness 67, 610265609427
LHX3Pituitary hormone deficiency, combined, 3, 221750600577
LHX4Pituitary hormone deficiency, combined, 4, 262700602146
LIASHyperglycinemia, lactic acidosis, and seizures, 614462607031
LIFRStuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559151443
LIG1Immunodeficiency 96, 619774126391
LIG3Mitochondrial DNA depletion syndrome 20 (MNGIE type), 619780600940
LIG4LIG4 syndrome, 606593; {Multiple myeloma, resistance to}, 254500, Somatic mutation601837
LIM2Cataract 19, multiple types, 615277154045
LIMA1[Low density lipoprotein cholesterol level QTL 8], 618079608364
LIMS2?Muscular dystrophy, with cardiomyopathy and triangular tongue, 616827607908
LINGO1Intellectual developmental disorder 64, 618103609791
LINS1Intellectual developmental disorder 27, 614340610350
LIPAWolman disease, 620151; Cholesteryl ester storage disease, 278000613497
LIPC{Diabetes mellitus, noninsulin-dependent}, 125853; Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12], 612797151670
LIPELipodystrophy, familial partial, type 6, 615980151750
LIPHHypotrichosis 7, 604379; Woolly hair 2 with or without hypotrichosis, 604379607365
LIPNIchthyosis, congenital 8, 613943613924
LIPT1Lipoyltransferase 1 deficiency, 616299610284
LIPT2Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668617659
LITAFCharcot-Marie-Tooth disease, type 1C, 601098603795
LMAN1Combined factor V and VIII deficiency, 227300601567
LMAN2L?Intellectual developmental disorder 69, 617863; ?Intellectual developmental disorder 52, 616887609552
LMBR1Syndactyly, type IV, 186200; Laurin-Sandrow syndrome, 135750; Acheiropody, 200500; Triphalangeal thumb-polysyndactyly syndrome, 190605605522
LMBRD1Methylmalonic aciduria and homocystinuria, cblF type, 277380612625
LMBRD2Developmental delay with variable neurologic and brain abnormalities, 619694619490
LMF1Lipase deficiency, combined, 246650611761
LMNAMandibuloacral dysplasia, 248370; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 3, 616516; Restrictive dermopathy 2, 619793; Charcot-Marie-Tooth disease, type 2B1, 605588; Emery-Dreifuss muscular dystrophy 2, 181350; Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Muscular dystrophy, congenital, 613205; Malouf syndrome, 212112150330
LMNB1Leukodystrophy, adult-onset, 169500; Microcephaly 26, primary, 619179150340
LMNB2Microcephaly 27, primary, 619180; ?Epilepsy, progressive myoclonic, 9, 616540; {Lipodystrophy, partial, acquired, susceptibility to}, 608709150341
LMO1Leukemia, T-cell acute lymphoblastic, 186921186921
LMO2Leukemia, acute T-cell, 180385180385
LMOD1?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, 619362602715
LMOD2Cardiomyopathy, dilated, 2G, 619897608006
LMOD3Nemaline myopathy 10, 616165616112
LMPH1BLymphatic malformation 2, 611944611944
LMX1ADeafness 7, 601412600298
LMX1BFocal segmental glomerulosclerosis 10, 256020; Nail-patella syndrome, 161200602575
LNCR1{Lung cancer susceptibility}, 608935608935
LNCR3{Lung cancer susceptibility 3}, 612571612571
LNCR4{Lung cancer susceptibility 4}, 612593612593
LNCR5{Lung cancer susceptibility 5}, 614210614210
LNPKNeurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090610236
LONP1CODAS syndrome, 600373605490
LORICRINVohwinkel syndrome with ichthyosis, 604117152445
LOXAortic aneurysm, familial thoracic 10, 617168153455
LOXHD1Deafness 77, 613079613072
LOXL1{Exfoliation syndrome, susceptibility to}, 177650153456
LOXL3Myopia 28, 619781607163
LPA[LPA deficiency, congenital], 618807; {Coronary artery disease, susceptibility to}, 618807152200
LPAR6Hypotrichosis 8, 278150; Woolly hair 1, with or without hypotrichosis, 278150609239
LPIN1Myoglobinuria, acute recurrent, 268200605518
LPIN2Majeed syndrome, 609628605519
LPLLipoprotein lipase deficiency, 238600; [High density lipoprotein cholesterol level QTL 11], 238600; Combined hyperlipidemia, familial, 144250609708
LPPLipoma; Leukemia, acute myeloid, 601626, Somatic mutation600700
LPRS{Leprosy, paucibacillary type, susceptibility to}, 609888609888
LPRS6{Leprosy, susceptibility to, 6}, 613407613407
LRATLeber congenital amaurosis 14, 613341; Retinal dystrophy, early-onset severe, 613341; Retinitis pigmentosa, juvenile, 613341604863
LRBAImmunodeficiency, common variable, 8, with autoimmunity, 614700606453
LRIF1?Facioscapulohumeral muscular dystrophy 3, digenic, 619477, Digenic recessive615354
LRIG2Urofacial syndrome 2, 615112608869
LRIT3Night blindness, congenital stationary (complete), 1F, 615058615004
LRMDAAlbinism, oculocutaneous, type VII, 615179614537
LRP1?Keratosis pilaris atrophicans, 604093; Developmental dysplasia of the hip 3, 620690107770
LRP12Oculopharyngodistal myopathy 1, 164310; Amyotrophic lateral sclerosis 28, 620452618299
LRP2Donnai-Barrow syndrome, 222448600073
LRP4?Myasthenic syndrome, congenital, 17, 616304; Sclerosteosis 2, 614305; Cenani-Lenz syndactyly syndrome, 212780604270
LRP5Osteopetrosis 1, 607634; [Bone mineral density variability 1], 601884; Polycystic liver disease 4 with or without kidney cysts, 617875; Endosteal hyperostosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Exudative vitreoretinopathy 4, 601813603506
LRP6{Coronary artery disease, 2}, 610947; Tooth agenesis, selective, 7, 616724603507
LRP8{Myocardial infarction, susceptibility to}, 608446602600
LRPAP1Myopia 23, 615431104225
LRPPRCMitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), 220111607544
LRRC23Spermatogenic failure 92, 620848620708
LRRC32Cleft palate, proliferative retinopathy, and developmental delay, 619074137207
LRRC56Ciliary dyskinesia, primary, 39, 618254618227
LRRC8A?Agammaglobulinemia 5, 613506608360
LRRK1Osteosclerotic metaphyseal dysplasia, 615198610986
LRRK2{Parkinson disease 8}, 607060609007
LRSAM1Charcot-Marie-Tooth disease, axonal, type 2P, 614436610933
LRSLLarsen-like syndrome, 608545, Isolated cases608545
LRTOMTDeafness 63, 611451612414
LSM11?Aicardi-Goutieres syndrome 8, 619486617910
LSSHypotrichosis 14, 618275; Cataract 44, 616509; Alopecia-intellectual disability syndrome 4, 618840600909
LTA{Psoriatic arthritis, susceptibility to}, 607507; {Myocardial infarction, susceptibility to}, 608446; {Leprosy, susceptibility to, 4}, 610988153440
LTBP1Cutis laxa, type IIE, 619451150390
LTBP2Glaucoma 3, primary congenital, D, 613086; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; ?Weill-Marchesani syndrome 3, recessive, 614819602091
LTBP3Dental anomalies and short stature, 601216; Geleophysic dysplasia 3, 617809602090
LTBP4Cutis laxa, type IC, 613177604710
LTC4SLeukotriene C4 synthase deficiency, 614037246530
LTV1Inflammatory poikiloderma with hair abnormalities and acral keratoses, 620199620074
LVNC2Left ventricular noncompaction 2, 609470609470
LYL1Leukemia, T-cell acute lymphoblastoid, 151440151440
LYNAutoinflammatory disease, systemic, with vasculitis, 620376165120
LYRM4?Combined oxidative phosphorylation deficiency 19, 615595613311
LYRM7Mitochondrial complex III deficiency, nuclear type 8, 615838615831
LYSETDysostosis multiplex, Ain-Naz type, 619345619332
LYSTChediak-Higashi syndrome, 214500606897
LYZAmyloidosis, hereditary systemic 5, 620658153450
LZTFL1Bardet-Biedl syndrome 17, 615994606568
LZTR1Noonan syndrome 2, 605275; Noonan syndrome 10, 616564; {Schwannomatosis-2, susceptibility to}, 615670600574
LZTS1Esophageal squamous cell carcinoma, somatic, 133239606551
M1APSpermatogenic failure 48, 619108619098
MAB21L1Cerebellar, ocular, craniofacial, and genital syndrome, 618479601280
MAB21L2Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877604357
MACF1Lissencephaly 9 with complex brainstem malformation, 618325608271
MACSTMacrostomia, 613545613545
MAD1L1Prostate cancer, somatic, 176807; Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, 620189; Lymphoma, B-cell, somatic602686
MAD2L2?Fanconi anemia, complementation group V, 617243604094
MADDNeurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005; DEEAH syndrome, 619004603584
MAFCataract 21, multiple types, 610202; Ayme-Gripp syndrome, 601088177075
MAFAInsulinomatosis and diabetes mellitus, 147630610303
MAFBDuane retraction syndrome 3, 617041; Multicentric carpotarsal osteolysis syndrome, 166300608968
MAFD1{Major affective disorder 1}, 125480125480
MAFD2{?Major affective disorder 2}, 309200, X-linked dominant309200
MAFD3{Major affective disorder 3, early onset}, 609633609633
MAFD4Major affective disorder 4, 611247611247
MAFD5{Major affective disorder 5}, 611535611535
MAFD6{Major affective disorder 6}, 611536611536
MAFD8{Major affective disorder-8, susceptibility to}, 612357612357
MAFD9{Major affective disorder-9, susceptibility to}, 612372612372
MAGSpastic paraplegia 75, 616680159460
MAGED2Bartter syndrome, type 5, antenatal, transient, 300971, X-linked recessive300470
MAGEL2Schaaf-Yang syndrome, 615547605283
MAGI2Nephrotic syndrome, type 15, 617609606382
MAGT1Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853, X-linked recessive; Congenital disorder of glycosylation, type Icc, 301031, X-linked recessive300715
MAKRetinitis pigmentosa 62, 614181154235
MAL?Leukodystrophy, hypomyelinating, 28, 620978188860
MALT1Immunodeficiency 12, 615468604860
MAML2Mucoepidermoid salivary gland carcinoma607537
MAMLD1Hypospadias 2, X-linked, 300758, X-linked recessive300120
MAN1B1Rafiq syndrome, 614202604346
MAN2B1Mannosidosis, alpha-, types I and II, 248500609458
MAN2C1Congenital disorder of deglycosylation 2, 619775154580
MANBAMannosidosis, beta, 248510609489
MANFDiabetes, deafness, developmental delay, and short stature syndrome, 620651601916
MAOABrunner syndrome, 300615, X-linked recessive309850
MAP1B?Deafness 83, 619808; Periventricular nodular heterotopia 9, 618918157129
MAP2K1Cardiofaciocutaneous syndrome 3, 615279; Melorheostosis, isolated, somatic mosaic, 155950176872
MAP2K2Cardiofaciocutaneous syndrome 4, 615280601263
MAP3K146XY sex reversal 6, 613762600982
MAP3K14Immunodeficiency 112, 620449604655
MAP3K20Centronuclear myopathy 6 with fiber-type disproportion, 617760; Split-foot malformation with mesoaxial polydactyly, 616890609479
MAP3K7Frontometaphyseal dysplasia 2, 617137; Cardiospondylocarpofacial syndrome, 157800602614
MAP3K8Lung cancer, somatic, 211980191195
MAPK1Noonan syndrome 13, 619087176948
MAPK8IP1{Diabetes mellitus, noninsulin-dependent}, 125853604641
MAPK8IP3Neurodevelopmental disorder with or without variable brain abnormalities, 618443605431
MAPKAPK3?Macular dystrophy, patterned, 3, 617111602130
MAPKAPK5Neurocardiofaciodigital syndrome, 619869606723
MAPKBP1Nephronophthisis 20, 617271616786
MAPRE2Symmetric circumferential skin creases, congenital, 2, 616734605789
MAPTSupranuclear palsy, progressive, 601104; Frontotemporal dementia 1, with or without parkinsonism, 600274; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600, Multifactorial; Pick disease, 172700157140
MARCHF6Epilepsy, familial adult myoclonic, 3, 613608613297
MARK3?Visual impairment and progressive phthisis bulbi, 618283602678
MARS1Spastic paraplegia 70, 620323; Interstitial lung and liver disease, 615486; ?Trichothiodystrophy 9, nonphotosensitive, 619692; Charcot-Marie-Tooth disease, axonal, type 2U, 616280156560
MARS2?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, 611390609728
MARVELD2Deafness 49, 610153610572
MASP13MC syndrome 1, 257920600521
MASP2MASP2 deficiency, 613791605102
MAST1Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273612256
MAST3Developmental and epileptic encephalopathy 108, 620115612258
MAT1AHypermethioninemia, persistent, due to methionine adenosyltransferase I/III deficiency, 250850; Methionine adenosyltransferase deficiency, 250850610550
MATN3{Osteoarthritis susceptibility 2}, 140600; Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, 608728; Epiphyseal dysplasia, multiple, 5, 607078602109
MATR3Amyotrophic lateral sclerosis 21, 606070164015
MAXPolydactyly-macrocephaly syndrome, 620712; {Pheochromocytoma, susceptibility to}, 171300154950
MBMyopathy, sarcoplasmic body, 620286160000
MBD4{Uveal melanoma, susceptibility to, 1}, 606660; Tumor predisposition syndrome 2, 619975603574
MBD5Intellectual developmental disorder 1, 156200611472
MBL2{Chronic infections, due to MBL deficiency}, 614372154545
MBNP{?Membranous nephropathy, susceptibility to}, 614692614692
MBOAT7Intellectual developmental disorder 57, 617188606048
MBS1?Moebius syndrome, 157900, Isolated cases157900
MBS2Facial paresis, hereditary congenital, 1, 601471601471
MBS3Facial paresis, hereditary congenital, 2, 604185604185
MBTPS1?Spondyloepiphyseal dysplasia, Kondo-Fu type, 618392603355
MBTPS2Keratosis follicularis spinulosa decalvans, X-linked, 308800, X-linked recessive; Osteogenesis imperfecta, type XIX, 301014, X-linked recessive; IFAP syndrome with or without BRESHECK syndrome, 308205, X-linked recessive; ?Olmsted syndrome, X-linked, 300918, X-linked recessive300294
MC1R[Analgesia from kappa-opioid receptor agonist, female-specific], 613098; [Skin/hair/eye pigmentation 2, red hair/fair skin], 266300; [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300; {Melanoma, cutaneous malignant, 5}, 613099; {Albinism, oculocutaneous, type II, modifier of}, 203200; {UV-induced skin damage}, 266300155555
MC2RGlucocorticoid deficiency, due to ACTH unresponsiveness, 202200607397
MC3R{Obesity, severe, susceptibility to, BMIQ9}, 602025155540
MC4RObesity (BMIQ20), 618406; {Obesity, resistance to (BMIQ20)}, 618406155541
MCATOptic atrophy 15, 620583614479
MCCColorectal cancer, somatic, 114500159350
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200609010
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210609014
MCEEMethylmalonyl-CoA epimerase deficiency, 251120608419
MCFD2Factor V and factor VIII, combined deficiency of, 613625607788
MCI2{Myocardial infarction, susceptibility to, 2}, 608557608557
MCIDASCiliary dyskinesia, primary, 42, 618695614086
MCM10Immunodeficiency 80 with or without cardiomyopathy, 619313609357
MCM2?Deafness 70, 616968116945
MCM3APPeripheral neuropathy, with or without impaired intellectual development, 618124603294
MCM4Immunodeficiency 54, 609981602638
MCM5?Meier-Gorlin syndrome 8, 617564602696
MCM6Lactase persistence/nonpersistence, 223100601806
MCM8?Premature ovarian failure 10, 612885608187
MCM9Ovarian dysgenesis 4, 616185610098
MCOLN1Lisch epithelial corneal dystrophy, 620763; Mucolipidosis IV, 252650605248
MCOP1Microphthalmia, isolated 1, 251600251600
MCOPCB1Microphthalmia with coloboma 1, 300345300345
MCOPCB2Microphthalmia/coloboma 2, 605738605738
MCOPCT1Microphthalmia with cataract 1, 156850156850
MCPH1Microcephaly 1, primary, 251200607117
MCTS1Immunodeficiency 118, mycobacteriosis, 301115, X-linked recessive300587
MDC1BMuscular dystrophy, congenital, 1B, 604801604801
MDD1Major depressive disorder 1, 608516608520
MDD2Major depressive disorder 2, 608516608691
MDFICLymphatic malformation 12, 620014614511
MDH1?Developmental and epileptic encephalopathy 88, 618959154200
MDH2Developmental and epileptic encephalopathy 51, 617339154100
MDM2{Accelerated tumor formation, susceptibility to}, 614401; ?Lessel-Kubisch syndrome, 618681164785
MDM4?Bone marrow failure syndrome 6, 618849602704
MDNSMammary-digital-nail syndrome, 613689613689
MECOMRadioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738165215
MECP2Rett syndrome, atypical, 312750, X-linked dominant; Encephalopathy, neonatal severe, 300673, X-linked recessive; Intellectual developmental disorder, X-linked syndromic, Lubs type, 300260, X-linked recessive; {Autism susceptibility, X-linked 3}, 300496, X-linked; Intellectual developmental disorder, X-linked syndromic 13, 300055, X-linked recessive; Rett syndrome, 312750, X-linked dominant; Rett syndrome, preserved speech variant, 312750, X-linked dominant300005
MECRDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282; Optic atrophy 16, 620629608205
MED11Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, 620327612383
MED12Lujan-Fryns syndrome, 309520, X-linked recessive; Ohdo syndrome, X-linked, 300895, X-linked recessive; Hardikar syndrome, 301068, X-linked dominant; Opitz-Kaveggia syndrome, 305450, X-linked recessive300188
MED12LNizon-Isidor syndrome, 618872611318
MED13Intellectual developmental disorder 61, 618009603808
MED13LImpaired intellectual development and distinctive facial features with or without cardiac defects, 616789608771
MED17Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668603810
MED23Intellectual developmental disorder 18, with or without epilepsy, 614249605042
MED25Basel-Vanagait-Smirin-Yosef syndrome, 616449610197
MED27Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, 619286605044
MEF2A{Coronary artery disease, 1}, 608320600660
MEF2CChromosome 5q14.3 deletion syndrome, 613443; Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language, 613443600662
MEFVNeutrophilic dermatosis, acute febrile, 608068; Familial Mediterranean fever, AR, 249100; Familial Mediterranean fever, AD, 134610608107
MEGF10Congenital myopathy 10A, severe variant, 614399; Congenital myopathy 10B, mild variant, 620249612453
MEGF8Carpenter syndrome 2, 614976604267
MEI1Hydatidiform mole, recurrent, 3, 618431608797
MEIOBPremature ovarian failure 23, 620686; Spermatogenic failure 22, 617706617670
MEIS2Cleft palate, cardiac defects, and impaired intellectual development, 600987601740
MEN1Lipoma, somatic; Angiofibroma, somatic; Multiple endocrine neoplasia 1, 131100; Carcinoid tumor of lung; Adrenal adenoma, somatic; Parathyroid adenoma, somatic613733
MENAQ1{Menarche, age at, QTL}, 610873610873
MENAQ2{Menarche, age at, QTL2}, 612882612882
MENAQ3{Menarche, age at, QTL3}, 612883612883
MENOQ1{Menopause, natural, age at, QTL1}, 300488, X-linked dominant300488
MENOQ2{Menopause, natural, age at, QTL2}, 612884612884
MENOQ4{Menopause, natural, age at, QTL4}, 612886612886
MEOX1Klippel-Feil syndrome 2, 214300600147
MERTKRetinitis pigmentosa 38, 613862604705
MESDOsteogenesis imperfecta, type XX, 618644607783
MESP2Spondylocostal dysostosis 2, 608681605195
METRenal cell carcinoma, papillary, 1, familial and somatic, 605074; ?Arthrogryposis, distal, type 11, 620019; Hepatocellular carcinoma, childhood type, somatic, 114550; {Osteofibrous dysplasia, susceptibility to}, 607278; ?Deafness 97, 616705164860
METTL13{?Deafness 26, modifier of}, 605429617987
METTL23Intellectual developmental disorder 44, 615942615262
METTL5Intellectual developmental disorder 72, 618665618628
MFAP5Aortic aneurysm, familial thoracic 9, 616166601103
MFFEncephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086614785
MFHAS1Malignant fibrous histiocytoma, 605352605352
MFN2Lipomatosis, multiple symmetric, with or without peripheral neuropathy, 151800; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087; Hereditary motor and sensory neuropathy VIA, 601152608507
MFRPMicrophthalmia, isolated 5, 611040; Nanophthalmos 2, 609549606227
MFSD2ANeurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities, 616486614397
MFSD8Macular dystrophy with central cone involvement, 616170; Ceroid lipofuscinosis, neuronal, 7, 610951611124
MFT2Trichoepithelioma, multiple familial, 2, 612099612099
MGAT2Congenital disorder of glycosylation, type IIa, 212066602616
MGME1Mitochondrial DNA depletion syndrome 11, 615084615076
MGPKeutel syndrome, 245150154870
MGR1{Migraine with or without aura, susceptibility to, 1}, 157300157300
MGR10{Migraine with or without aura, susceptibility to, 10}, 610208610208
MGR11{Migraine with or without aura, susceptibility to, 11}, 610209610209
MGR12{Migraine, with or without aura, susceptibility to, 12}, 611706611706
MGR2{Migraine, familial typical, susceptibility to, 2}, 300125, X-linked300125
MGR3{Migraine with or without aura, susceptibility to, 3}, 607498607498
MGR4{Migraine without aura, susceptibility to, 4}, 607501607501
MGR5{Migraine with or without aura, susceptibility to, 5}, 607508607508
MGR6{Migraine with or without aura, susceptibility to, 6}, 607516; {Migraine, familial hemiplegic, 4}, 607516607516
MGR7{Migraine with aura, susceptibility to, 7}, 609179609179
MGR8{Migraine, susceptibility to, 8}, 609570609570
MGR9{Migraine with aura, susceptibility to, 9}, 609670609670
MHS2{Malignant hyperthermia susceptibility 2}, 154275154275
MHS3{Malignant hyperthermia susceptibility 3}, 154276154276
MHS4{Malignant hyperthermia susceptibility 4}, 600467600467
MHS6{Malignant hyperthermia susceptibility 6}, 601888601888
MHW1{Mental health wellness-1}, 603663603663
MHW2{Mental health wellness-2}, 603664603664
MIA3?Ondontochondrodysplasia 2 with hearing loss and diabetes, 619269613455
MIAT{Myocardial infarction, susceptibility to}, 608446611082
MIB1Left ventricular noncompaction 7, 615092608677
MICOS13Combined oxidative phosphorylation deficiency 37, 618329616658
MICU1Myopathy with extrapyramidal signs, 615673605084
MID1Opitz GBBB syndrome, 300000, X-linked recessive300552
MID2?Intellectual developmental disorder, X-linked 101, 300928, X-linked recessive300204
MIEF1Optic atrophy 14, 620550615497
MIEF2?Combined oxidative phosphorylation deficiency 49, 619024615498
MIF{Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302153620
MINAR2Deafness 120, 620238620215
MINPP1{Thyroid carcinoma, follicular}, 188470, Somatic mutation; Pontocerebellar hypoplasia, type 16, 619527605391
MIPCataract 15, multiple types, 615274154050
MIPEPCombined oxidative phosphorylation deficiency 31, 617228602241
MIR140Spondyloepiphyseal dysplasia, Nishimura type, 618618611894
MIR184EDICT syndrome, 614303613146
MIR204Retinal dystrophy and iris coloboma with or without cataract, 616722610942
MIR2861[Bone mineral density QTL 15], 613418613405
MIR96Deafness 50, 613074611606
MITFWaardenburg syndrome, type 2A, 193510; {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456; Tietz albinism-deafness syndrome, 103500; COMMAD syndrome, 617306156845
MKKSMcKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231604896
MKRN3Precocious puberty, central, 2, 615346603856
MKS1Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000; Joubert syndrome 28, 617121609883
MLC1Megalencephalic leukoencephalopathy with subcortical cysts 1, 604004605908
MLH1Lynch syndrome 2, 609310; Muir-Torre syndrome, 158320; Mismatch repair cancer syndrome 1, 276300120436
MLH3{Endometrial cancer, susceptibility to}, 608089, Somatic mutation; Colorectal cancer, somatic, 114500; Colorectal cancer, hereditary nonpolyposis, type 7, 614385604395
MLIPMyopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, 620138614106
MLLT10Leukemia, acute myeloid, 601626, Somatic mutation602409
MLPHGriscelli syndrome, type 3, 609227606526
MLYCDMalonyl-CoA decarboxylase deficiency, 248360606761
MMAAMethylmalonic aciduria, vitamin B12-responsive, cblA type, 251100607481
MMABMethylmalonic aciduria, vitamin B12-responsive, cblB type, 251110607568
MMACHCMethylmalonic aciduria and homocystinuria, cblC type, 277400609831
MMADHCMethylmalonic aciduria and homocystinuria, cblD type, 277410; Methylmalonic aciduria, cblD type, 620953; Homocystinuria-megaloblastic anemia, cblD type, 620952611935
MMD2Miyoshi muscular dystrophy 2, 613318613318
MME?Spinocerebellar ataxia 43, 617018; Charcot-Marie-Tooth disease, axonal, type 2T, 617017120520
MMP13?Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal anadysplasia 1, 602111; Metaphyseal dysplasia, Spahr type, 250400600108
MMP14Winchester syndrome, 277950600754
MMP19Cavitary optic disc anomalies, 611543601807
MMP2Multicentric osteolysis, nodulosis, and arthropathy, 259600120360
MMP20Amelogenesis imperfecta, type IIA2, 612529604629
MMP21Heterotaxy, visceral, 7, autosomal, 616749608416
MMP3{Coronary heart disease, susceptibility to, 6}, 614466185250
MMP9Metaphyseal anadysplasia 2, 613073120361
MMUTMethylmalonic aciduria, mut(0) type, 251000609058
MMVP1Mitral valve prolapse, myxomatous 1, 157700157700
MN1CEBALID syndrome, 618774; Meningioma, 607174156100
MNDECMicrotia with nasolacrimal duct imperforation and eye coloboma, 611863611863
MNG2Goiter, multinodular, 2, 300273, X-linked dominant300273
MNG3Goiter, multinodular, 3, 606082606082
MNRIMeningioma, radiation-induced, 606190606190
MNS1Heterotaxy, visceral, 9, autosomal, with male infertility, 618948610766
MNX1Currarino syndrome, 176450142994
MOCOSXanthinuria, type II, 603592613274
MOCS1Molybdenum cofactor deficiency A, 252150603707
MOCS2Molybdenum cofactor deficiency B, 252160603708
MOG?Narcolepsy 7, 614250159465
MOGSCongenital disorder of glycosylation, type IIb, 606056601336
MORC2Charcot-Marie-Tooth disease, axonal, type 2Z, 616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, 619090616661
MOSOocyte/zygote/embryo maturation arrest 20, 620383190060
MOV10L1?Spermatogenic failure 73, 619878605794
MPC1Mitochondrial pyruvate carrier deficiency, 614741614738
MPDU1Congenital disorder of glycosylation, type If, 609180604041
MPDZHydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219603785
MPEG1Immunodeficiency 77, 619223610390
MPICongenital disorder of glycosylation, type Ib, 602579154550
MPIG6B?Thrombocytopenia, anemia, and myelofibrosis, 617441606520
MPLMyelofibrosis with myeloid metaplasia, somatic, 254450; Amegakaryocytic thrombocytopenia, congenital, 1, 604498; Thrombocythemia 2, 601977, Somatic mutation159530
MPLKIPTrichothiodystrophy 4, nonphotosensitive, 234050609188
MPO{Alzheimer disease, susceptibility to}, 104300; Myeloperoxidase deficiency, 254600; {Lung cancer, protection against, in smokers}606989
MPV17Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810137960
MPVQTL1[Mean platelet volume QTL1], 612573612573
MPVQTL2[Mean platelet volume QTL2], 612574612574
MPVQTL3[Mean platelet volume QTL3], 612575612575
MPVQTL4Mean platelet volume QTL4, 614644614644
MPVQTL5Mean platelet volume QTL5, 614645614645
MPVQTL6Mean platelet volume QTL6, 614646614646
MPZCharcot-Marie-Tooth disease, type 2I, 607677; Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 1B, 118200; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, dominant intermediate D, 607791; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, type 2J, 607736159440
MPZL2Deafness 111, 618145604873
MRAPGlucocorticoid deficiency 2, 607398609196
MRAP2{?Obesity, susceptibility to, BMIQ18}, 615457615410
MRASNoonan syndrome 11, 618499608435
MRD4Intellectual developmental disorder 4, 612581612581
MRE11Ataxia-telangiectasia-like disorder 1, 604391600814
MRM2Mitochondrial DNA depletion syndrome 17, 618567606906
MROS?Melkersson-Rosenthal syndrome, 155900155900
MRPL12?Combined oxidative phosphorylation deficiency 45, 618951602375
MRPL3Combined oxidative phosphorylation deficiency 9, 614582607118
MRPL39Combined oxidative phosphorylation deficiency 59, 620646611845
MRPL44Combined oxidative phosphorylation deficiency 16, 615395611849
MRPS14?Combined oxidative phosphorylation deficiency 38, 618378611978
MRPS16Combined oxidative phosphorylation deficiency 2, 610498609204
MRPS2Combined oxidative phosphorylation deficiency 36, 617950611971
MRPS22Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719605810
MRPS23?Combined oxidative phosphorylation deficiency 46, 618952611985
MRPS25?Combined oxidative phosphorylation deficiency 50, 619025611987
MRPS28?Combined oxidative phosphorylation deficiency 47, 618958611990
MRPS34Combined oxidative phosphorylation deficiency 32, 617664611994
MRPS7?Combined oxidative phosphorylation deficiency 34, 617872611974
MRSDIntellectual developmental disorder, X-linked, with skeletal dysplasia and abducens palsy, 309620, X-linked309620
MRSTImpaired intellectual development with spasticity and tapetoretinal degeneration, 602685602685
MRT10Intellectual developmental disorder 10/20, 611096611096
MRT11Intellectual developmental disorder 11, 611097611097
MRT16Intellectual developmental disorder 16, 614208614208
MRT19Intellectual developmental disorder 19, 614343614343
MRT23Intellectual developmental disorder 23, 614344614344
MRT24Intellectual developmental disorder 24, 614345614345
MRT25Intellectual developmental disorder 25, 614346614346
MRT28Intellectual developmental disorder 28, 614347614347
MRT29Intellectual developmental disorder 29, 614333614333
MRT30Intellectual developmental disorder 30, 614342614342
MRT31Intellectual developmental disorder 31, 614329614329
MRT33Intellectual developmental disorder 33, 614341614341
MRT35Intellectual developmental disorder 35, 615162615162
MRT4Intellectual developmental disorder 4, 611107611107
MRT9Intellectual developmental disorder 9/26, 611095611095
MRTFA?Immunodeficiency 66, 618847606078
MRX14Intellectual developmental disorder, X-linked 14, 300062, X-linked300062
MRX20Intellectual developmental disorder, X-linked 20, 300047, X-linked300047
MRX23Intellectual developmental disorder, X-linked 23, 300046, X-linked300046
MRX42Intellectual developmental disorder, X-linked 42, 300372300372
MRX53Intellectual developmental disorder, X-linked 53, 300324, X-linked recessive300324
MRX73Intellectual developmental disorder, X-linked 73, 300355, X-linked recessive300355
MRX77Intellectual developmental disorder, X-linked 77, 300454, X-linked recessive300454
MRX81Intellectual developmental disorder, X-linked 81, 300433, X-linked recessive300433
MRX82Intellectual developmental disorder, X-linked 82, 300518, X-linked recessive300518
MRX84Intellectual developmental disorder, X-linked 84, 300505, X-linked recessive300505
MRX88Intellectual developmental disorder, X-linked 88, 300852, X-linked300852
MRX92Intellectual developmental disorder, X-linked 92, 300851, X-linked recessive300851
MRX95Intellectual developmental disorder, X-linked 95, 300716, X-linked dominant300716
MRXS12?Intellectual developmental disorder, X-linked syndromic 12, 309545, X-linked309545
MRXS17Intellectual developmental disorder, X-linked syndromic 17, 300858, X-linked recessive300858
MRXS32Intellectual developmental disorder, X-linked, syndromic 32, 300886, X-linked recessive300886
MRXS7Intellectual developmental disorder, X-linked syndromic 7, 300218, X-linked300218
MRXSABIntellectual developmental disorder, X-linked syndromic, Abidi type, 300262, X-linked300262
MRXSCSIntellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type, 300861, X-linked recessive300861
MRXSMPMartin-Probst syndrome, 300519, X-linked recessive300519
MS2{Multiple sclerosis, susceptibility to, 2}, 612594612594
MS3{Multiple sclerosis, susceptibility to, 3}, 612595612595
MS4{Multiple sclerosis, susceptibility to, 4}, 612596612596
MS4A1?Immunodeficiency, common variable, 5, 613495112210
MSH2Lynch syndrome 1, 120435; Muir-Torre syndrome, 158320; Mismatch repair cancer syndrome 2, 619096609309
MSH3Familial adenomatous polyposis 4, 617100; Endometrial carcinoma, somatic, 608089600887
MSH4Premature ovarian failure 20, 619938; Spermatogenic failure 2, 108420602105
MSH5?Premature ovarian failure 13, 617442; Spermatogenic failure 74, 619937603382
MSH6Lynch syndrome 5, 614350; Mismatch repair cancer syndrome 3, 619097; {Endometrial cancer, familial}, 608089, Somatic mutation600678
MSL3Basilicata-Akhtar syndrome, 301032, X-linked dominant300609
MSMB{Prostate cancer, hereditary, 13}, 611928157145
MSMO1Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834607545
MSNImmunodeficiency 50, 300988, X-linked recessive309845
MSR1Barrett esophagus/esophageal adenocarcinoma, 614266153622
MSRB3Deafness 74, 613718613719
MST1R{Nasopharyngeal carcinoma, susceptibility to, 3}, 617075600168
MSTN?Muscle hypertrophy, 614160601788
MSTO1Myopathy, mitochondrial, and ataxia, 617675617619
MSX1Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874142983
MSX2Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis 2, 604757; Parietal foramina 1, 168500123101
MTAPDiaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250156540
MTBS1{Tuberculosis, susceptibility to}, 607949607949
MTBS2{Mycobacterium tuberculosis, susceptibility to, 2}, 611046611046
MTBS3{Mycobacterium tuberculosis, susceptibility to, 3}, 612929612929
MTBSX{Mycobacterium tuberculosis, susceptibility, X-linked}, 300259300259
MTFMTCombined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248611766
MTHFD1{Neural tube defects, folate-sensitive, susceptibility to}, 601634; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780172460
MTHFR{Vascular disease, susceptibility to}; Homocystinuria due to MTHFR deficiency, 236250; {Thromboembolism, susceptibility to}, 188050; {Schizophrenia, susceptibility to}, 181500; {Neural tube defects, susceptibility to}, 601634607093
MTHFSNeurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367604197
MTM1Myopathy, centronuclear, X-linked, 310400, X-linked recessive300415
MTMR14{Centronuclear myopathy, autosomal, modifier of}, 160150611089
MTMR2Charcot-Marie-Tooth disease, type 4B1, 601382603557
MTNR1B{Diabetes mellitus, type 2, susceptibility to}, 125853600804
MTO1Combined oxidative phosphorylation deficiency 10, 614702614667
MTORFocal cortical dysplasia, type II, somatic, 607341; Smith-Kingsmore syndrome, 616638601231
MTPAP?Spastic ataxia 4, 613672613669
MTR{Neural tube defects, folate-sensitive, susceptibility to}, 601634; Homocystinuria-megaloblastic anemia, cblG complementation type, 250940156570
MTRFRSpastic paraplegia 55, 615035; Combined oxidative phosphorylation deficiency 7, 613559613541
MTRRHomocystinuria-megaloblastic anemia, cbl E type, 236270; {Neural tube defects, folate-sensitive, susceptibility to}, 601634602568
MTSS2Intellectual developmental disorder with ocular anomalies and distinctive facial features, 620086616951
MTTPAbetalipoproteinemia, 200100157147
MTX2Mandibuloacral dysplasia progeroid syndrome, 619127608555
MUC1Tubulointerstitial kidney disease, 2, 174000158340
MUC5B{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500600770
MUC7{Asthma, protection against}, 600807158375
MUSKFetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325601296
MUSQTL1[Musical aptitude QTL 1], 612343612343
MUSTQTL1Muscle strength quantitative trait locus 1, 612083612083
MUTYHAdenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659604933
MVCD7{Microvascular complications of diabetes, susceptibility to, 7}, 612635612635
MVDPorokeratosis 7, multiple types, 614714603236
MVKHyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377251170
MXI1Prostate cancer, somatic, 176807; Neurofibrosarcoma, somatic600020
MYAS1Myasthenia gravis with thymus hyperplasia, 607085607085
MYB{T-cell acute lymphoblastic leukemia}189990
MYBPC1Congenital myopathy 16, 618524; Lethal congenital contracture syndrome 4, 614915; Arthrogryposis, distal, type 1B, 614335160794
MYBPC3Cardiomyopathy, hypertrophic, 4, 115197; Cardiomyopathy, dilated, 1MM, 615396; Left ventricular noncompaction 10, 615396600958
MYCBurkitt lymphoma, somatic, 113970190080
MYCNFeingold syndrome 1, 164280; Megalencephaly-polydactyly syndrome, 620748164840
MYD88Macroglobulinemia, Waldenstrom, somatic, 153600; Immunodeficiency 68, 612260602170
MYF5Ophthalmoplegia, external, with rib and vertebral anomalies, 618155159990
MYH11Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, 619351; Aortic aneurysm, familial thoracic 4, 132900; Visceral myopathy 2, 619350160745
MYH14?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness 4A, 600652608568
MYH2Congenital myopathy 6 with ophthalmoplegia, 605637160740
MYH3Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700160720
MYH6{Sick sinus syndrome 3}, 614090; Atrial septal defect 3, 614089; Cardiomyopathy, dilated, 1EE, 613252; Cardiomyopathy, hypertrophic, 14, 613251160710
MYH7Laing distal myopathy, 160500; Cardiomyopathy, hypertrophic, 1, 192600, Digenic dominant; Left ventricular noncompaction 5, 613426; Cardiomyopathy, dilated, 1S, 613426; Congenital myopathy 7B, myosin storage, 255160; Congenital myopathy 7A, myosin storage, 608358160760
MYH8Carney complex variant, 608837; Trismus-pseudocamptodactyly syndrome, 158300160741
MYH9Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness 17, 603622160775
MYL1Congenital myopathy 14, 618414160780
MYL11Arthrogryposis, distal, type 1C, 619110617378
MYL2Cardiomyopathy, hypertrophic, 10, 608758; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, 619424160781
MYL3Cardiomyopathy, hypertrophic, 8, 608751160790
MYL4?Atrial fibrillation, familial, 18, 617280160770
MYL9?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, 619365609905
MYLKMegacystis-microcolon-intestinal hypoperistalsis syndrome 1, 249210; Aortic aneurysm, familial thoracic 7, 613780600922
MYLK2Cardiomyopathy, hypertrophic, 1, digenic, 192600, Digenic dominant606566
MYMKCarey-Fineman-Ziter syndrome, 254940615345
MYMX?Carey-Fineman-Ziter syndrome 2, 619941619912
MYMY1Moyamoya disease, 252350252350
MYMY3Moyamoya disease 3, 608796608796
MYO15ADeafness 3, 600316602666
MYO18BKlippel-Feil syndrome 4, with myopathy and facial dysmorphism, 616549607295
MYO1EGlomerulosclerosis, focal segmental, 6, 614131601479
MYO1H?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, 619482614636
MYO3ADeafness 30, 607101; Deafness 90, 620722606808
MYO5AGriscelli syndrome, type 1, 214450160777
MYO5BDiarrhea 2, with microvillus atrophy, with or without cholestasis, 251850; Cholestasis, progressive familial intrahepatic, 10, 619868606540
MYO6Deafness 22, with hypertrophic cardiomyopathy, 606346; Deafness 22, 606346; Deafness 37, 607821600970
MYO7ADeafness 2, 600060; Usher syndrome, type 1B, 276900; Deafness 11, 601317276903
MYO9AMyasthenic syndrome, congenital, 24, presynaptic, 618198604875
MYOCGlaucoma 1A, primary open angle, 137750601652
MYOCDMegabladder, congenital, 618719606127
MYOD1Congenital myopathy 17, 618975159970
MYOF?Angioedema, hereditary, 7, 619366604603
MYORGBasal ganglia calcification, idiopathic, 7, 618317618255
MYOTMyopathy, myofibrillar, 3, 609200604103
MYOZ2Cardiomyopathy, hypertrophic, 16, 613838605602
MYP1Myopia-1, 310460, X-linked recessive310460
MYP10Myopia 10, 609259, Multifactorial609259
MYP11Myopia 11, 609994609994
MYP12Myopia 12, 609995609995
MYP13Myopia 13, 300613300613
MYP14Myopia 14, 610320610320
MYP15Myopia 15, 612717612717
MYP16Myopia 16, 612554612554
MYP17Myopia 17, 608367608367
MYP18Myopia 18, 255500255500
MYP19Myopia 19, 613969613969
MYP2Myopia 2, 160700160700
MYP20Myopia 20, 614166614166
MYP3Myopia-3, 603221603221
MYP5Myopia 5, 608474608474
MYP7Myopia 7, 609256, Multifactorial609256
MYP8Myopia 8, 609257, Multifactorial609257
MYP9Myopia 9, 609258, Multifactorial609258
MYPNCardiomyopathy, hypertrophic, 22, 615248; Congenital myopathy 24, 617336; Cardiomyopathy, familial restrictive, 4, 615248; Cardiomyopathy, dilated, 1KK, 615248608517
MYRFEncephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113; Cardiac-urogenital syndrome, 618280608329
MYSM1Bone marrow failure syndrome 4, 618116612176
MYT1LIntellectual developmental disorder 39, 616521613084
MYZAPCardiomyopathy, dilated, 2K, 620894614071
NAA10Microphthalmia, syndromic 1, 309800, X-linked; Ogden syndrome, 300855, X-linked dominant, X-linked recessive300013
NAA15Intellectual developmental disorder 50, with behavioral abnormalities, 617787608000
NAA20Intellectual developmental disorder 73, 619717610833
NAA60Basal ganglia calcification, idiopathic, 9, 620786614246
NAA80?Auroneurodental syndrome, 620830607073
NACC1Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393610672
NADK22,4-dienoyl-CoA reductase deficiency, 616034615787
NADSYN1Vertebral, cardiac, renal, and limb defects syndrome 3, 618845608285
NAE1Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, 620210603385
NAF1Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, 620365617868
NAFLD1{Fatty liver disease, susceptibility to, 1}, 613282, Multifactorial613282
NAFLD2{Fatty liver disease, susceptibility to, 2}, 613387, Multifactorial613387
NAGASchindler disease, type I, 609241; Kanzaki disease, 609242; Schindler disease, type III, 609241104170
NAGLU?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920609701
NAGSN-acetylglutamate synthase deficiency, 237310608300
NALCNCongenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419611549
NANOS1Spermatogenic failure 12, 615413608226
NANSSpondyloepimetaphyseal dysplasia, Genevieve type, 610442605202
NAPBDevelopmental and epileptic encephalopathy 107, 620033611270
NARS1Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, 619092; Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, 619091108410
NARS2Combined oxidative phosphorylation deficiency 24, 616239; ?Deafness 94, 618434612803
NAT2[Acetylation, slow], 243400612182
NAT8L?N-acetylaspartate deficiency, 614063610647
NAXDEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321615910
NAXEEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186608862
NBASShort stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800; Infantile liver failure syndrome 2, 616483608025
NBEANeurodevelopmental disorder with or without early-onset generalized epilepsy, 619157604889
NBEAL2Gray platelet syndrome, 139090614169
NBLST4{Neuroblastoma, susceptibility to, 4}, 613015613015
NBLST5{Neuroblastoma, susceptibility to, 5}, 613016613016
NBLST6{Neuroblastoma, susceptibility to, 6}, 613017613017
NBLST7{Neuroblastoma, susceptibility to, 7}, 616792616792
NBNLeukemia, acute lymphoblastic, 613065; Aplastic anemia, 609135; Nijmegen breakage syndrome, 251260602667
NCAPD2Microcephaly 21, primary, 617983615638
NCAPD3Microcephaly 22, primary, 617984609276
NCAPG2Khan-Khan-Katsanis syndrome, 618460608532
NCAPH?Microcephaly 23, primary, 617985602332
NCDNNeurodevelopmental disorder with infantile epileptic spasms, 619373608458
NCF1Chronic granulomatous disease 1, 233700608512
NCF2Chronic granulomatous disease 2, 233710608515
NCF4Chronic granulomatous disease 3, 613960601488
NCKAP1LImmunodeficiency 72 with autoinflammation, 618982141180
NCR3{Malaria, mild, susceptibility to}, 609148611550
NCSTNAcne inversa, familial, 1, 142690605254
NDE1Microhydranencephaly, 605013; Lissencephaly 4 (with microcephaly), 614019609449
NDICNail disorder, nonsyndromic congenital, 7, 605779605779
NDNC9Nail disorder, nonsyndromic congenital, 9, 614149614149
NDNFHypogonadotropic hypogonadism 25 with anosmia, 618841616506
NDPExudative vitreoretinopathy 2, X-linked, 305390, X-linked dominant, X-linked recessive; Norrie disease, 310600, X-linked recessive300658
NDRG1Charcot-Marie-Tooth disease, type 4D, 601455605262
NDST1Intellectual developmental disorder 46, 616116600853
NDUFA1Mitochondrial complex I deficiency, nuclear type 12, 301020, X-linked recessive300078
NDUFA10Mitochondrial complex I deficiency, nuclear type 22, 618243603835
NDUFA11Mitochondrial complex I deficiency, nuclear type 14, 618236612638
NDUFA12Mitochondrial complex I deficiency, nuclear type 23, 618244614530
NDUFA13{Thyroid carcinoma, Hurthle cell}, 607464; Mitochondrial complex I deficiency, nuclear type 28, 618249609435
NDUFA2Mitochondrial complex I deficiency, nuclear type 13, 618235602137
NDUFA4?Mitochondrial complex IV deficiency, nuclear type 21, 619065603833
NDUFA6Mitochondrial complex I deficiency, nuclear type 33, 618253602138
NDUFA8Mitochondrial complex I deficiency, nuclear type 37, 619272603359
NDUFA9Mitochondrial complex I deficiency, nuclear type 26, 618247603834
NDUFAF1Mitochondrial complex I deficiency, nuclear type 11, 618234606934
NDUFAF2Mitochondrial complex I deficiency, nuclear type 10, 618233609653
NDUFAF3Mitochondrial complex I deficiency, nuclear type 18, 618240612911
NDUFAF4Mitochondrial complex I deficiency, nuclear type 15, 618237611776
NDUFAF5Mitochondrial complex I deficiency, nuclear type 16, 618238612360
NDUFAF6Mitochondrial complex I deficiency, nuclear type 17, 618239; Fanconi renotubular syndrome 5, 618913612392
NDUFAF8Mitochondrial complex I deficiency, nuclear type 34, 618776618461
NDUFB10?Mitochondrial complex I deficiency, nuclear type 35, 619003603843
NDUFB11Linear skin defects with multiple congenital anomalies 3, 300952, X-linked dominant; ?Mitochondrial complex I deficiency, nuclear type 30, 301021, X-linked300403
NDUFB3Mitochondrial complex I deficiency, nuclear type 25, 618246603839
NDUFB7?Mitochondrial complex I deficiency, nuclear type 39, 620135603842
NDUFB8Mitochondrial complex I deficiency, nuclear type 32, 618252602140
NDUFB9?Mitochondrial complex I deficiency, nuclear type 24, 618245601445
NDUFC2Mitochondrial complex I deficiency, nuclear type 36, 619170603845
NDUFS1Mitochondrial complex I deficiency, nuclear type 5, 618226157655
NDUFS2?Leber-like hereditary optic neuropathy 2, 620569; Mitochondrial complex I deficiency, nuclear type 6, 618228602985
NDUFS3Mitochondrial complex I deficiency, nuclear type 8, 618230603846
NDUFS4Mitochondrial complex I deficiency, nuclear type 1, 252010602694
NDUFS6Mitochondrial complex I deficiency, nuclear type 9, 618232603848
NDUFS7Mitochondrial complex I deficiency, nuclear type 3, 618224601825
NDUFS8Mitochondrial complex I deficiency, nuclear type 2, 618222602141
NDUFV1Mitochondrial complex I deficiency, nuclear type 4, 618225161015
NDUFV2Mitochondrial complex I deficiency, nuclear type 7, 618229600532
NEBNemaline myopathy 2, 256030; Arthrogryposis multiplex congenita 6, 619334161650
NECAP1Developmental and epileptic encephalopathy 21, 615833611623
NECTIN1Cleft lip/palate-ectodermal dysplasia syndrome, 225060; Orofacial cleft 7, 225060600644
NECTIN4Ectodermal dysplasia-syndactyly syndrome 1, 613573609607
NEDD4LPeriventricular nodular heterotopia 7, 617201606384
NEDENephropathy, progressive, with deafness, 609469609469
NEFHCharcot-Marie-Tooth disease, axonal, type 2CC, 616924; {?Amyotrophic lateral sclerosis, susceptibility to}, 105400162230
NEFLCharcot-Marie-Tooth disease, type 1F, 607734; Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684162280
NEK1Short-rib thoracic dysplasia 6 with or without polydactyly, 263520, Digenic recessive; ?Orofaciodigital syndrome II, 252100; {Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892604588
NEK10Ciliary dyskinesia, primary, 44, 618781618726
NEK2?Retinitis pigmentosa 67, 615565604043
NEK8Renal-hepatic-pancreatic dysplasia 2, 615415; Polycystic kidney disease 8, 620903; ?Nephronophthisis 9, 613824609799
NEK9?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262; Nevus comedonicus, somatic, 617025; Lethal congenital contracture syndrome 10, 617022609798
NEMFIntellectual developmental disorder with speech delay and axonal peripheral neuropathy, 619099608378
NEPROAnauxetic dysplasia 3, 618853617089
NEU1Sialidosis, type II, 256550; Sialidosis, type I, 256550608272
NEUROD1{Type 2 diabetes mellitus, susceptibility to}, 125853; Maturity-onset diabetes of the young 6, 606394601724
NEUROD2Developmental and epileptic encephalopathy 72, 618374601725
NEUROG1Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, 620469601726
NEUROG3Diarrhea 4, malabsorptive, congenital, 610370604882
NEXMIFIntellectual developmental disorder, X-linked 98, 300912, X-linked dominant300524
NEXNCardiomyopathy, dilated, 1CC, 613122; Cardiomyopathy, hypertrophic, 20, 613876613121
NF1Watson syndrome, 193520; Leukemia, juvenile myelomonocytic, 607785, Somatic mutation; Neurofibromatosis, familial spinal, 162210; Neurofibromatosis, type 1, 162200; Neurofibromatosis-Noonan syndrome, 601321613113
NF2Meningioma, NF2-related, somatic, 607174; Schwannomatosis, vestibular, 101000; Schwannomatosis, somatic, 101000607379
NFASCNeurodevelopmental disorder with central and peripheral motor dysfunction, 618356609145
NFATC2?Joint contracture, osteochondromas, and B-cell lymphoma, 620232600490
NFE2L2Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744600492
NFIABrain malformations with or without urinary tract defects, 613735600727
NFIBMacrocephaly, acquired, with impaired intellectual development, 618286600728
NFIXMarshall-Smith syndrome, 602535; Malan syndrome, 614753164005
NFKB1Immunodeficiency, common variable, 12, 616576164011
NFKB2Immunodeficiency, common variable, 10, 615577164012
NFKBIAEctodermal dysplasia and immunodeficiency 2, 612132164008
NFKBIL1{Rheumatoid arthritis, susceptibility to}, 180300601022
NFS1Combined oxidative phosphorylation deficiency 52, 619386603485
NFU1Spastic paraplegia 93, 620938; Multiple mitochondrial dysfunctions syndrome 1, 605711608100
NGFNeuropathy, hereditary sensory and autonomic, type V, 608654162030
NGLY1Congenital disorder of deglycosylation 1, 615273610661
NHEJ1Microphthalmia/coloboma 13, 620968; Immunodeficiency 124, severe combined, 611291611290
NHERF1Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287604990
NHLH2?Hypogonadotropic hypogonadism 27 without anosmia, 619755162361
NHLRC1Myoclonic epilepsy of Lafora 2, 620681608072
NHLRC2FINCA syndrome, 618278618277
NHP2Dyskeratosis congenita 2, 613987606470
NHSCataract 40, X-linked, 302200, X-linked; Nance-Horan syndrome, 302350, X-linked dominant300457
NIDDM2Diabetes mellitus, noninsulin-dependent, 2, 601407601407
NIDDM3{Type 2 diabetes mellitus 3}, 603694603694
NIDDM4{Diabetes mellitus, noninsulin-dependent}, 125853608036
NIN?Seckel syndrome 7, 614851608684
NIPA1Spastic paraplegia 6, 600363608145
NIPAL4Ichthyosis, congenital 6, 612281609383
NIPBLCornelia de Lange syndrome 1, 122470608667
NKAPIntellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type, 301039, X-linked recessive300766
NKS1{Lysis by alloreactive natural killer cells, susceptibility to}, 272370272370
NKX2-1Chorea, hereditary benign, 118700; {Thyroid cancer, nonmedullary, 1}, 188550; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978600635
NKX2-5Hypoplastic left heart syndrome 2, 614435; Tetralogy of Fallot, 187500; Hypothyroidism, congenital nongoitrous, 5, 225250; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Atrial septal defect 7, with or without AV conduction defects, 108900600584
NKX2-6Persistent truncus arteriosus, 217095; Conotruncal heart malformations, 217095611770
NKX3-2Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330602183
NKX6-2Spastic ataxia 8, with hypomyelinating leukodystrophy, 617560605955
NLGN1{Autism, susceptibility to, 20}, 618830600568
NLGN3{Autism susceptibility, X-linked 1}, 300425, X-linked300336
NLGN4XIntellectual developmental disorder, X-linked, 300495, X-linked; {Autism susceptibility, X-linked 2}, 300495, X-linked300427
NLRC4?Familial cold autoinflammatory syndrome 4, 616115; Autoinflammation with infantile enterocolitis, 616050606831
NLRP1{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579; ?Respiratory papillomatosis, juvenile recurrent, congenital, 618803; Autoinflammation with arthritis and dyskeratosis, 617388; Palmoplantar carcinoma, multiple self-healing, 615225606636
NLRP12Familial cold autoinflammatory syndrome 2, 611762609648
NLRP2Oocyte/zygote/embryo maturation arrest 18, 620332609364
NLRP3CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Keratoendothelitis fugax hereditaria, 148200; Deafness 34, with or without inflammation, 617772; Muckle-Wells syndrome, 191900606416
NLRP5Oocyte/zygote/embryo maturation arrest 19, 620333609658
NLRP7Hydatidiform mole, recurrent, 1, 231090609661
NME5Ciliary dyskinesia, primary, 48, without situs inversus, 620032603575
NME8?Ciliary dyskinesia, primary, 6, 610852607421
NMNAT1Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis, 619260; Leber congenital amaurosis 9, 608553608700
NMTC3{Thyroid carcinoma, nonmedullary, 3}, 606240606240
NNMTHomocysteine plasma level, 600008600008
NNO1Nanophthalmos-1, 600165600165
NNO3Nanophthalmos 3, 611897611897
NNTGlucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736607878
NOBOXPremature ovarian failure 5, 611548610934
NOD2Blau syndrome, 186580; {Yao syndrome}, 617321, Multifactorial; {Inflammatory bowel disease 1, Crohn disease}, 266600, Multifactorial605956
NODALHeterotaxy, visceral, 5, 270100601265
NOGSymphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Tarsal-carpal coalition syndrome, 186570; Multiple synostoses syndrome 1, 186500602991
NOL3?Myoclonus, familial, 1, 614937605235
NONOIntellectual developmental disorder, X-linked syndromic 34, 300967, X-linked300084
NOP10?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, 620400; ?Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2, 620425; ?Dyskeratosis congenita 1, 224230606471
NOP56Spinocerebellar ataxia 36, 614153614154
NOS1APNephrotic syndrome, type 22, 619155605551
NOS2{Malaria, resistance to}, 611162163730
NOS3{Coronary artery spasm 1, susceptibility to}; {Hypertension, susceptibility to}, 145500, Multifactorial; {Placental abruption}; {Alzheimer disease, late-onset, susceptibility to}, 104300; {Hypertension, pregnancy-induced}, 189800; {Ischemic stroke, susceptibility to}, 601367, Multifactorial163729
NOTCH1Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730190198
NOTCH2Alagille syndrome 2, 610205; Hajdu-Cheney syndrome, 102500600275
NOTCH2NLCTremor, hereditary essential, 6, 618866; Oculopharyngodistal myopathy 3, 619473; Neuronal intranuclear inclusion disease, 603472618025
NOTCH3Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310600276
NOVA2Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, 618859601991
NPC1Niemann-Pick disease, type C1, 257220; Niemann-Pick disease, type D, 257220607623
NPC1L1[Ezetimibe, nonresponse to], 617966; [Low density lipoprotein cholesterol level QTL 7], 617966608010
NPC2Niemann-pick disease, type C2, 607625601015
NPCA1{Nasopharyngeal carcinoma 1}, 607107607107
NPCA2{Nasopharyngeal carcinoma, susceptibility to, 2}, 161550161550
NPHP1Joubert syndrome 4, 609583; Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900607100
NPHP3Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540; Meckel syndrome 7, 267010608002
NPHP4Senior-Loken syndrome 4, 606996; Nephronophthisis 4, 606966607215
NPHS1Nephrotic syndrome, type 1, 256300602716
NPHS2Nephrotic syndrome, type 2, 600995604766
NPM1Leukemia, acute myeloid, somatic, 601626164040
NPPAAtrial standstill 2, 615745; Atrial fibrillation, familial, 6, 612201108780
NPR2Epiphyseal chondrodysplasia, Miura type, 615923; Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia 1, Maroteaux type, 602875108961
NPR3Boudin-Mortier syndrome, 619543108962
NPRL2Epilepsy, familial focal, with variable foci 2, 617116607072
NPRL3Epilepsy, familial focal, with variable foci 3, 617118600928
NPSR1{Asthma, susceptibility to, 2}, 608584608595
NPTX1Spinocerebellar ataxia 50, 620158602367
NQO1{Breast cancer, poor survival after chemotherapy for}; {Leukemia, post-chemotherapy, susceptibility to}; {Benzene toxicity, susceptibility to}125860
NQO2{?Breast cancer susceptibility}, 114480, Somatic mutation160998
NR0B1Adrenal hypoplasia, congenital, 300200, X-linked recessive; 46XY sex reversal 2, dosage-sensitive, 300018, X-linked300473
NR0B2Obesity, mild, early-onset, 601665, Multifactorial604630
NR1H4Cholestasis, progressive familial intrahepatic, 5, 617049603826
NR2E3Retinitis pigmentosa 37, 611131; Enhanced S-cone syndrome, 268100604485
NR2F1Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722132890
NR2F246XX sex reversal 5, 618901; Congenital heart defects, multiple types, 4, 615779107773
NR3C1Glucocorticoid resistance, 615962138040
NR3C2Pseudohypoaldosteronism type I, 177735; Hypertension, early-onset, with exacerbation in pregnancy, 605115600983
NR4A2Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, 619911601828
NR4A3Chondrosarcoma, extraskeletal myxoid, 612237600542
NR5A146XX sex reversal 4, 617480; Premature ovarian failure 7, 612964; 46XY sex reversal 3, 612965; Adrenocortical insufficiency, 612964; Spermatogenic failure 8, 613957184757
NRASNoonan syndrome 6, 613224; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470; Melanocytic nevus syndrome, congenital, somatic, 137550; Epidermal nevus, somatic, 162900; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Thyroid carcinoma, follicular, somatic, 188470; Neurocutaneous melanosis, somatic, 249400; Colorectal cancer, somatic, 114500164790
NRCAMNeurodevelopmental disorder with neuromuscular and skeletal abnormalities, 619833601581
NRCLP2Narcolepsy 2, 605841605841
NRCLP3Narcolepsy 3, 609039609039
NRCLP4{Narcolepsy 4}, 612417612417
NRCLP5{Narcolepsy 5}, 612851612851
NRCLP6Narcolepsy 6, 614223614223
NRG1{?Schizophrenia, susceptibility to}, 603013142445
NRIP1?Congenital anomalies of kidney and urinary tract 3, 618270602490
NRLRetinitis pigmentosa 27, 613750; Retinal degeneration, clumped pigment type162080
NRROSSeizures, early-onset, with neurodegeneration and brain calcification, 618875615322
NRXN1Pitt-Hopkins-like syndrome 2, 614325; {Schizophrenia, susceptibility to, 17}, 614332600565
NSD1Sotos syndrome, 117550606681
NSD2Rauch-Steindl syndrome, 619695602952
NSDHLCK syndrome, 300831, X-linked recessive; CHILD syndrome, 308050, X-linked dominant300275
NSFDevelopmental and epileptic encephalopathy 96, 619340601633
NSMCE2Seckel syndrome 10, 617253617246
NSMCE3Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241608243
NSMFHypogonadotropic hypogonadism 9 with or without anosmia, 614838608137
NSRP1Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, 620001616173
NSUN2Intellectual developmental disorder 5, 611091610916
NSUN3Combined oxidative phosphorylation deficiency 48, 619012617491
NSUN6Intellectual developmental disorder 82, 620779617199
NT5C2Spastic paraplegia 45, 613162600417
NT5C3AAnemia, congenital, nonspherocytic hemolytic, 8, 266120606224
NT5ECalcification of joints and arteries, 211800129190
NTF4Glaucoma 1, open angle, 1O, 613100162662
NTHL1Familial adenomatous polyposis 3, 616415602656
NTN1Mirror movements 4, 618264601614
NTNG2Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, 618718618689
NTRK1Insensitivity to pain, congenital, with anhidrosis, 256800191315
NTRK2Developmental and epileptic encephalopathy 58, 617830; Obesity, hyperphagia, and developmental delay, 613886600456
NUAK2?Anencephaly 2, 619452608131
NUBPLMitochondrial complex I deficiency, nuclear type 21, 618242613621
NUDT15{Thiopurines, poor metabolism of, 2}, 616903615792
NUDT2Intellectual developmental disorder with or without peripheral neuropathy, 619844602852
NUP107?Ovarian dysgenesis 6, 618078; Galloway-Mowat syndrome 7, 618348; Nephrotic syndrome, type 11, 616730607617
NUP133?Galloway-Mowat syndrome 8, 618349; Nephrotic syndrome, type 18, 618177607613
NUP155?Atrial fibrillation 15, 615770606694
NUP160?Nephrotic syndrome, type 19, 618178607614
NUP188Sandestig-Stefanova syndrome, 618804615587
NUP205?Nephrotic syndrome, type 13, 616893614352
NUP214Leukemia, T-cell acute lymphoblastic, somatic, 613065; Leukemia, acute myeloid, somatic, 601626; {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426114350
NUP37?Microcephaly 24, primary, 618179609264
NUP54Dystonia 37, early-onset, with striatal lesions, 620427607607
NUP62Striatonigral degeneration, infantile, 271930605815
NUP85Nephrotic syndrome, type 17, 618176170285
NUP88Fetal akinesia deformation sequence 4, 618393602552
NUP93Nephrotic syndrome, type 12, 616892614351
NUS1Intellectual developmental disorder 55, with seizures, 617831; ?Congenital disorder of glycosylation, type 1aa, 617082610463
NUTM2B-AS1?Oculopharyngeal myopathy with leukoencephalopathy 1, 618637618639
NXNRobinow syndrome 2, 618529612895
NYS2Nystagmus 2, congenital, 164100164100
NYS3Nystagmus 3, congenital, 608345608345
NYS5Nystagmus 5, congenital, X-linked, 300589, X-linked dominant300589
NYXNight blindness, congenital stationary (complete), 1A, X-linked, 310500, X-linked recessive300278
OAS1Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, 618042164350
OASDOcular albinism with sensorineural deafness, 300650, X-linked300650
OATGyrate atrophy of choroid and retina with or without ornithinemia, 258870613349
OBSCN{Rhabdomyolysis, susceptibility to, 1}, 620235608616
OBSL13-M syndrome 2, 612921610991
OCA2[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220; [Skin/hair/eye pigmentation 1, blond/brown hair], 227220; Albinism, brown oculocutaneous, 203200; Albinism, oculocutaneous, type II, 203200611409
OCA5Albinism, oculocutaneous, type V, 615312615312
OCLNPseudo-TORCH syndrome 1, 251290602876
OCRLDent disease 2, 300555, X-linked recessive; Lowe syndrome, 309000, X-linked recessive300535
ODAD1Ciliary dyskinesia, primary, 20, 615067615038
ODAD2Ciliary dyskinesia, primary, 23, 615451615408
ODAD3Ciliary dyskinesia, primary, 30, 616037615956
ODAD4Ciliary dyskinesia, primary, 35, 617092617095
ODAPHAmelogenesis imperfecta, type IIA4, 614832614829
ODC1Bachmann-Bupp syndrome, 619075165640
ODS1{Opioid dependence, susceptibility to, 1}, 610064610064
OFC1Orofacial cleft-1, 119530119530
OFC12Orofacial cleft 12, 612858612858
OFC13Orofacial cleft 13, 613857613857
OFC14Orofacial cleft 14, 615892615892
OFC2Orofacial cleft 2, 602966602966
OFC3Orofacial cleft 3, 600757, ?Autosomal dominant600757
OFC4Orofacial cleft 4, 608371608371
OFC9Orofacial cleft 9, 610361610361
OFD1Simpson-Golabi-Behmel syndrome, type 2, 300209, X-linked recessive; ?Retinitis pigmentosa 23, 300424, X-linked recessive; Orofaciodigital syndrome I, 311200, X-linked dominant; Joubert syndrome 10, 300804, X-linked recessive300170
OGDHOxoglutarate dehydrogenase deficiency, 203740613022
OGDHLYoon-Bellen neurodevelopmental syndrome, 619701617513
OGG1Renal cell carcinoma, clear cell, somatic, 144700601982
OGTIntellectual developmental disorder, X-linked 106, 300997, X-linked recessive300255
OHDSOrthostatic hypotensive disorder of Streeten, 143850143850
OLR1{Myocardial infarction, susceptibility to}, 608446602601
OPA1Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to}, 606657; Optic atrophy 1, 165500; Behr syndrome, 210000; ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896605290
OPA2Optic atrophy 2, X-linked, 311050, X-linked311050
OPA33-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300606580
OPA4Optic atrophy 4, 605293605293
OPA6Optic atrophy 6, 258500258500
OPA8Optic atrophy 8, 616648616648
OPCMLOvarian cancer, somatic, 167000600632
OPHN1Intellectual developmental disorder, X-linked syndromic, Billuart type, 300486, X-linked recessive300127
OPLAH5-oxoprolinase deficiency, 260005614243
OPN1LWBlue cone monochromacy, 303700, X-linked recessive; Colorblindness, protan, 303900, X-linked300822
OPN1MWColorblindness, deutan, 303800, X-linked; Blue cone monochromacy, 303700, X-linked recessive300821
OPN1SWColorblindness, tritan, 190900613522
OPTNGlaucoma 1, open angle, E, 137760; Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, 613435; {Glaucoma, normal tension, susceptibility to}, 606657602432
OR2J3[C3HEX, ability to smell], 615082615016
ORAI1Immunodeficiency 9, 612782; Myopathy, tubular aggregate, 2, 615883610277
ORC1Meier-Gorlin syndrome 1, 224690601902
ORC4Meier-Gorlin syndrome 2, 613800603056
ORC6Meier-Gorlin syndrome 3, 613803607213
OS4{Osteoarthritis susceptibility 4}, 610839610839
OS6{Osteoarthritis susceptibility 6}, 612401612401
OSBPL2Deafness 67, 616340606731
OSGEPGalloway-Mowat syndrome 3, 617729610107
OSMRAmyloidosis, primary localized cutaneous, 1, 105250601743
OSTM1Osteopetrosis 5, 259720607649
OTCOrnithine transcarbamylase deficiency, 311250, X-linked300461
OTOADeafness 22, 607039607038
OTOFAuditory neuropathy, 1, 601071; Deafness 9, 601071603681
OTOGDeafness 18B, 614945604487
OTOGLDeafness 84B, 614944614925
OTSC1Otosclerosis 1, 166800166800
OTSC10Otosclerosis 10, 615589615589
OTSC2Otosclerosis 2, 605727605727
OTSC3Otosclerosis 3, 608244608244
OTSC4{Otosclerosis 4}, 611571611571
OTSC5Otosclerosis 5, 608787608787
OTSC7Otosclerosis 7, 611572611572
OTSC8Otosclerosis 8, 612096612096
OTUD5Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, 301056, X-linked recessive300713
OTUD6BIntellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452612021
OTUD7ANeurodevelopmental disorder with hypotonia and seizures, 620790612024
OTULINAutoinflammation, panniculitis, and dermatosis syndrome, 617099; {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, 619986615712
OTX2Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125; Pituitary hormone deficiency, combined, 6, 613986; Microphthalmia, syndromic 5, 610125600037
OVCAS1{Ovarian cancer, susceptibility to}, 607893607893
OVOL2Corneal dystrophy, posterior polymorphous, 1, 122000616441
OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050601424
OXGR1Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, 620374606922
OXR1Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, 213000605609
P2RX2Deafness 41, 608224600844
P2RY12Bleeding disorder, platelet-type, 8, 609821600515
P3H1Osteogenesis imperfecta, type VIII, 610915610339
P3H2Myopia, high, with cataract and vitreoretinal degeneration, 614292610341
P4HA2Myopia 25, 617238600608
P4HBCole-Carpenter syndrome 1, 112240176790
P4HTMHypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493614584
PABPN1Oculopharyngeal muscular dystrophy, 164300602279
PACS1Schuurs-Hoeijmakers syndrome, 615009607492
PACS2Developmental and epileptic encephalopathy 66, 618067610423
PADI3Uncombable hair syndrome, 191480606755
PADI6Oocyte/zygote/embryo maturation arrest 16, 617234610363
PAFAH1B1Subcortical laminar heterotopia, 607432; Lissencephaly 1, 607432601545
PAFC?Preauricular fistulae, congenital, 128700128700
PAH[Hyperphenylalaninemia, non-PKU mild], 261600; Phenylketonuria, 261600612349
PAICS?Phosphoribosylaminoimidazole carboxylase deficiency, 619859172439
PAK1Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158602590
PAK2?Knobloch syndrome 2, 618458605022
PAK3Intellectual developmental disorder, X-linked 30, 300558, X-linked recessive300142
PALB2{Breast-ovarian cancer, familial, susceptibility to, 5}, 620442; {Pancreatic cancer, susceptibility to, 3}, 613348; Fanconi anemia, complementation group N, 610832610355
PALLD{Pancreatic cancer, susceptibility to, 1}, 606856608092
PAM16Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320614336
PAND1Panic disorder syndrome 1, 167870, ?Autosomal dominant167870
PAND2Panic disorder 2, 607853607853
PAND3Panic disorder 3, 609985609985
PANK2Neurodegeneration with brain iron accumulation 1, 234200606157
PANK4?Cataract 49, 619593606162
PANX1Oocyte/zygote/embryo maturation arrest 7, 618550608420
PAOD1Peripheral arterial occlusive disease 1, 606787606787
PAPA2Postaxial polydactyly, type A2, 602085602085
PAPA3Polydactyly, postaxial, type A3, 607324607324
PAPA4Polydactyly, postaxial, type A4, 608562608562
PAPA5Polydactyly, postaxial, type A5, 263450263450
PAPPA2Short stature, Dauber-Argente type, 619489619485
PAPSS2Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847603005
PARK10{Parkinson disease 10}, 606852606852
PARK12{Parkinson disease 12}, 300557300557
PARK16{Parkinson disease 16}, 613164613164
PARK21Parkinson disease 21, 616361616361
PARK3{Parkinson disease 3}, 602404602404
PARK7Parkinson disease 7 early-onset, 606324602533
PARNDyskeratosis congenita 6, 616353; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4, 616371604212
PARS2Developmental and epileptic encephalopathy 75, 618437612036
PATL2Oocyte/zygote/embryo maturation arrest 4, 617743614661
PAURT1Preauricular tag, isolated, 1, 610420610420
PAX1Otofaciocervical syndrome 2 with T-cell deficiency, 615560167411
PAX2Glomerulosclerosis, focal segmental, 7, 616002; Papillorenal syndrome, 120330167409
PAX3Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 3, 148820; Waardenburg syndrome, type 1, 193500; Rhabdomyosarcoma 2, alveolar, 268220, Somatic mutation606597
PAX4{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227; Maturity-onset diabetes of the young, type IX, 612225; Diabetes mellitus, type 2, 125853167413
PAX5{Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545167414
PAX6Optic nerve hypoplasia, 165550; Cataract with late-onset corneal dystrophy, 106210; Microphthalmia/coloboma 12, 120200; ?Coloboma of optic nerve, 120430; Aniridia, 106210; Anterior segment dysgenesis 5, multiple subtypes, 604229; ?Morning glory disc anomaly, 120430; Foveal hypoplasia 1, 136520; Keratitis, 148190607108
PAX7Congenital myopathy 19, 618578; Rhabdomyosarcoma 2, alveolar, 268220, Somatic mutation167410
PAX8Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700167415
PAX9Tooth agenesis, selective, 3, 604625167416
PBC2{Biliary cirrhosis, primary, 2}, 613007613007
PBC3{Biliary cirrhosis, primary, 3}, 613008613008
PBC4Biliary cirrhosis, primary, 4, 614220614220
PBC5Biliary cirrhosis, primary, 5, 614221614221
PBCA?Diabetes mellitus, insulin-dependent, neonatal, 600089600089
PBRM1?Renal cell carcinoma, clear cell, 144700606083
PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641176310
PCPyruvate carboxylase deficiency, 266150608786
PCAP{Prostate cancer, susceptibility to}, 602759602759
PCARERetinitis pigmentosa 54, 613428613425
PCBD1Hyperphenylalaninemia, BH4-deficient, D, 264070126090
PCCAPropionicacidemia, 606054232000
PCCBPropionicacidemia, 606054232050
PCDH12Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280605622
PCDH15Usher syndrome, type 1D/F digenic, 601067, Digenic recessive; Deafness 23, 609533; Usher syndrome, type 1F, 602083605514
PCDH19Developmental and epileptic encephalopathy 9, 300088, X-linked300460
PCDHGC4Neurodevelopmental disorder with poor growth and skeletal anomalies, 619880606305
PCGF2Turnpenny-Fry syndrome, 618371600346
PCK1Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680614168
PCK2PEPCK deficiency, mitochondrial, 261650614095
PCLO?Pontocerebellar hypoplasia, type 3, 608027604918
PCNA?Ataxia-telangiectasia-like disorder 2, 615919176740
PCNTMicrocephalic osteodysplastic primordial dwarfism, type II, 210720605925
PCOS1Polycystic ovary syndrome 1, 184700184700
PCSK1{Obesity, susceptibility to, BMIQ12}, 612362; Endocrinopathy due to proprotein convertase 1/3 deficiency, 600955162150
PCSK9{Low density lipoprotein cholesterol level QTL 1}, 603776; Hypercholesterolemia, familial, 3, 603776607786
PCYT1ASpondylometaphyseal dysplasia with cone-rod dystrophy, 608940; Lipodystrophy, congenital generalized, type 5, 620680123695
PCYT2Spastic paraplegia 82, 618770602679
PDA1{Patent ductus arteriosus, susceptibility to}, 607411607411
PDB4Paget disease of bone 4, 606263606263
PDCD1{Multiple sclerosis, disease progression, modifier of}, 126200, Multifactorial; {Systemic lupus erythematosus, susceptibility to, 2}, 605218600244
PDCD10Cerebral cavernous malformations-3, 603285609118
PDCD6IP?Microcephaly 29, primary, 620047608074
PDCOS{Podoconiosis, susceptibility to}, 614590614590
PDE10AStriatal degeneration, 616922; Dyskinesia, limb and orofacial, infantile-onset, 616921610652
PDE11APigmented nodular adrenocortical disease, primary, 2, 610475604961
PDE1C?Deafness 74, 618140602987
PDE2AIntellectual developmental disorder with paroxysmal dyskinesia or seizures, 619150602658
PDE3AHypertension and brachydactyly syndrome, 112410123805
PDE4DAcrodysostosis 2, with or without hormone resistance, 614613600129
PDE6ARetinitis pigmentosa 43, 613810180071
PDE6BRetinitis pigmentosa-40, 613801; Night blindness, congenital stationary 2, 163500180072
PDE6CCone dystrophy 4, 613093600827
PDE6DJoubert syndrome 22, 615665602676
PDE6GRetinitis pigmentosa 57, 613582180073
PDE6HRetinal cone dystrophy 3, 610024; Achromatopsia 6, 610024601190
PDE8BPigmented nodular adrenocortical disease, primary, 3, 614190; Striatal degeneration, 609161603390
PDGFBMeningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907190040
PDGFRAGastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, 175510; Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685, Somatic mutation, Isolated cases173490
PDGFRBPremature aging syndrome, Penttinen type, 601812; Kosaki overgrowth syndrome, 616592; Myofibromatosis, infantile, 1, 228550; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440173410
PDGFRLHepatocellular cancer, somatic, 114550; Colorectal cancer, somatic, 114500604584
PDHA1Pyruvate dehydrogenase E1-alpha deficiency, 312170, X-linked dominant300502
PDHA2Spermatogenic failure 70, 619828179061
PDHBPyruvate dehydrogenase E1-beta deficiency, 614111179060
PDHXLacticacidemia due to PDX1 deficiency, 245349608769
PDK3?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905, X-linked dominant300906
PDLIM4{Osteoporosis, susceptibility to}, 166710603422
PDON2Periodontitis, aggressive, 2, 608526608526
PDP1Pyruvate dehydrogenase phosphatase deficiency, 608782605993
PDSS1Coenzyme Q10 deficiency, primary, 2, 614651607429
PDSS2Coenzyme Q10 deficiency, primary, 3, 614652610564
PDX1{Diabetes mellitus, type II, susceptibility to}, 125853; Pancreatic agenesis 1, 260370; MODY, type IV, 606392600733
PDXKNeuropathy, hereditary motor and sensory, type VIC, with optic atrophy, 618511179020
PDYNSpinocerebellar ataxia 23, 610245131340
PDZD7Deafness 57, 618003; {Retinal disease in Usher syndrome type IIA, modifier of}, 276901; Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472, Digenic dominant612971
PDZD8Intellectual developmental disorder with autism and dysmorphic facies, 620021614235
PEE1Preeclampsia/eclampsia 1, 189800189800
PEE2Preeclampsia/eclampsia 2, 609402609402
PEE3Preeclampsia/eclampsia 3, 609403609403
PEPDProlidase deficiency, 170100613230
PER2?Advanced sleep phase syndrome, familial, 1, 604348603426
PER3?Advanced sleep phase syndrome, familial, 3, 616882603427
PERCC1Diarrhea 11, malabsorptive, congenital, 618662618656
PERPErythrokeratodermia variabilis et progressiva 7, 619209; Olmsted syndrome 2, 619208609301
PET100Mitochondrial complex IV deficiency, nuclear type 12, 619055614770
PET117?Mitochondrial complex IV deficiency, nuclear type 19, 619063614771
PEX1Heimler syndrome 1, 234580; Peroxisome biogenesis disorder 1B (NALD/IRD), 601539; Peroxisome biogenesis disorder 1A (Zellweger), 214100602136
PEX10Peroxisome biogenesis disorder 6A (Zellweger), 614870; Peroxisome biogenesis disorder 6B, 614871602859
PEX11BPeroxisome biogenesis disorder 14B, 614920603867
PEX12Peroxisome biogenesis disorder 3B, 266510; Peroxisome biogenesis disorder 3A (Zellweger), 614859601758
PEX13Peroxisome biogenesis disorder 11A (Zellweger), 614883; Peroxisome biogenesis disorder 11B, 614885601789
PEX14Peroxisome biogenesis disorder 13A (Zellweger), 614887601791
PEX16Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A (Zellweger), 614876603360
PEX19Peroxisome biogenesis disorder 12A (Zellweger), 614886600279
PEX2Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867170993
PEX26Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872608666
PEX3Peroxisome biogenesis disorder 10A (Zellweger), 614882; ?Peroxisome biogenesis disorder 10B, 617370603164
PEX5Peroxisome biogenesis disorder 2B, 202370; Peroxisome biogenesis disorder 2A (Zellweger), 214110; Rhizomelic chondrodysplasia punctata, type 5, 616716600414
PEX6Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler syndrome 2, 616617601498
PEX7Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879601757
PFBI{Malaria, intensity of infection}, 248310248310
PFFE1{Plasmodium falciparum fever episodes QTL1}, 611384611384
PFHB2Progressive familial heart block, type II, 140400140400
PFKLHemolytic anemia due to phosphofructokinase deficiency171860
PFKMGlycogen storage disease VII, 232800610681
PFM3Parietal foramina 3, 609566609566
PFN1Amyotrophic lateral sclerosis 18, 614808176610
PGAM2Glycogen storage disease X, 261670612931
PGAP1Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, 615802611655
PGAP2Hyperphosphatasia with impaired intellectual development syndrome 3, 614207615187
PGAP3Hyperphosphatasia with impaired intellectual development syndrome 4, 615716611801
PGK1Phosphoglycerate kinase 1 deficiency, 300653, X-linked recessive311800
PGM1Congenital disorder of glycosylation, type It, 614921171900
PGM2L1Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, 620191611610
PGM3Immunodeficiency 23, 615816172100
PGR?Progesterone resistance, 264080607311
PHA2APseudohypoaldosteronism, type IIA, 145260145260
PHACTR1Developmental and epileptic encephalopathy 70, 618298608723
PHB1{Breast cancer, susceptibility to}, 114480, Somatic mutation176705
PHC1?Microcephaly 11, primary, 615414602978
PHEXHypophosphatemic rickets, X-linked dominant, 307800, X-linked dominant300550
PHF21AIntellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725608325
PHF6Borjeson-Forssman-Lehmann syndrome, 301900, X-linked recessive300414
PHF8Intellectual developmental disorder, X-linked syndromic, Siderius type, 300263, X-linked recessive300560
PHGDHNeu-Laxova syndrome 1, 256520; Phosphoglycerate dehydrogenase deficiency, 601815606879
PHIPChung-Jansen syndrome, 617991612870
PHKA1Muscle glycogenosis, 300559, X-linked recessive311870
PHKA2Glycogen storage disease, type IXa2, 306000, X-linked recessive; Glycogen storage disease, type IXa1, 306000, X-linked recessive300798
PHKBPhosphorylase kinase deficiency of liver and muscle, 261750172490
PHKG2Glycogen storage disease IXc, 613027172471
PHLDB1Osteogenesis imperfecta, type XXIII, 620639612834
PHOBSPhobia, specific, 608251608251
PHOX2AFibrosis of extraocular muscles, congenital, 2, 602078602753
PHOX2B{Neuroblastoma, susceptibility to, 2}, 613013; Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, 209880603851
PHYHRefsum disease, 266500602026
PHYKPL[?Phosphohydroxylysinuria], 615011614683
PI4K2ANeurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, 620732609763
PI4KASpastic paraplegia 84, 619621; Gastrointestinal defects and immunodeficiency syndrome 2, 619708; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531600286
PI4KBDeafness 87, 620281602758
PIBF1Joubert syndrome 33, 617767607532
PICALMLeukemia, acute myeloid, somatic, 601626603025
PIDD1Intellectual developmental disorder 75, with neuropsychiatric features and variant lissencephaly, 619827605247
PIEZO1[ER blood group system], 620207; Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380611184
PIEZO2Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146; Arthrogryposis, distal, type 3, 114300; ?Marden-Walker syndrome, 248700613629
PIGAParoxysmal nocturnal hemoglobinuria, somatic, 300818; Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868, X-linked recessive; Neurodevelopmental disorder with epilepsy and hemochromatosis, 301072, X-linked recessive311770
PIGBDevelopmental and epileptic encephalopathy 80, 618580604122
PIGCGlycosylphosphatidylinositol biosynthesis defect 16, 617816601730
PIGFOnychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, 619356600153
PIGG[Blood group, EMM system], 619812; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, 616917616918
PIGHGlycosylphosphatidylinositol biosynthesis defect 17, 618010600154
PIGKNeurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, 618879605087
PIGLCHIME syndrome, 280000605947
PIGMGlycosylphosphatidylinositol deficiency, 610293610273
PIGNMultiple congenital anomalies-hypotonia-seizures syndrome 1, 614080606097
PIGOHyperphosphatasia with impaired intellectual development syndrome 2, 614749614730
PIGPDevelopmental and epileptic encephalopathy 55, 617599605938
PIGQMultiple congenital anomalies-hypotonia-seizures syndrome 4, 618548605754
PIGSDevelopmental and epileptic encephalopathy 95, 618143610271
PIGT?Paroxysmal nocturnal hemoglobinuria 2, 615399, Somatic mutation; Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398610272
PIGUNeurodevelopmental disorder with brain anomalies, seizures, and scoliosis, 618590608528
PIGVHyperphosphatasia with impaired intellectual development syndrome 1, 239300610274
PIGWGlycosylphosphatidylinositol biosynthesis defect 11, 616025610275
PIGYHyperphosphatasia with impaired intellectual development syndrome 6, 616809610662
PIK3C2AOculoskeletodental syndrome, 618440603601
PIK3CAHemifacial myohyperplasia, somatic, 606773; CLOVE syndrome, somatic, 612918; Hepatocellular carcinoma, somatic, 114550; Breast cancer, somatic, 114480; Cerebral cavernous malformations 4, somatic, 619538; Ovarian cancer, somatic, 167000; Colorectal cancer, somatic, 114500; Macrodactyly, somatic, 155500; CLAPO syndrome, somatic, 613089; Keratosis, seborrheic, somatic, 182000; Nevus, epidermal, somatic, 162900; Gastric cancer, somatic, 613659; Nonsmall cell lung cancer, somatic, 211980; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; Cowden syndrome 5, 615108171834
PIK3CDImmunodeficiency 14A, 615513; Immunodeficiency 14B, 619281; ?Roifman-Chitayat syndrome, digenic, 613328, Digenic recessive602839
PIK3CGImmunodeficiency 97 with autoinflammation, 619802601232
PIK3R1Immunodeficiency 36, 616005; ?Agammaglobulinemia 7, 615214; SHORT syndrome, 269880171833
PIK3R2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387603157
PIK3R5Ataxia-oculomotor apraxia 3, 615217611317
PIKFYVECorneal fleck dystrophy, 121850609414
PINK1Parkinson disease 6, early onset, 605909608309
PIP5K1CLethal congenital contractural syndrome 3, 611369606102
PISDLiberfarb syndrome, 618889612770
PITPNM3Cone-rod dystrophy 5, 600977608921
PITRM1Spinocerebellar ataxia 30, 619405618211
PITX1Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800602149
PITX2Ring dermoid of cornea, 180550; Axenfeld-Rieger syndrome, type 1, 180500; Anterior segment dysgenesis 4, 137600601542
PITX3Cataract 11, multiple types, 610623; Anterior segment dysgenesis 1, multiple subtypes, 107250; Cataract 11, syndromic, 610623602669
PJVKDeafness 59, 610220610219
PKD1Polycystic kidney disease 1, 173900601313
PKD1L1Heterotaxy, visceral, 8, autosomal, 617205609721
PKD2Polycystic kidney disease 2, 613095173910
PKDCCRhizomelic limb shortening with dysmorphic features, 618821614150
PKHD1Polycystic kidney disease 4, with or without hepatic disease, 263200606702
PKHD1L1Deafness 124, 620794607843
PKLRAnemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient, 266200; [Adenosine triphosphate, elevated, of erythrocytes], 102900609712
PKP1Ectodermal dysplasia/skin fragility syndrome, 604536601975
PKP2Arrhythmogenic right ventricular dysplasia 9, 609040602861
PLA2G2A{?Colorectal cancer, susceptibility to}, 114500, Somatic mutation172411
PLA2G4AGastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372600522
PLA2G5[Fleck retina, familial benign], 228980601192
PLA2G6Parkinson disease 14, 612953; Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1, 256600603604
PLA2G7Platelet-activating factor acetylhydrolase deficiency, 614278601690
PLAANeurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527603873
PLAAT3Lipodystrophy, familial partial, type 9, 620683613867
PLAG1Adenomas, salivary gland pleomorphic, somatic, 181030; Silver-Russell syndrome 4, 618907603026
PLAUQuebec platelet disorder, 601709; {Alzheimer disease, late-onset, susceptibility to}, 104300191840
PLCB1Developmental and epileptic encephalopathy 12, 613722607120
PLCB2Platelet PLC beta-2 deficiency604114
PLCB3Spondylometaphyseal dysplasia with corneal dystrophy, 618961600230
PLCB4Auriculocondylar syndrome 2B, 620458; Auriculocondylar syndrome 2A, 614669600810
PLCD1Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600602142
PLCE1Nephrotic syndrome, type 3, 610725608414
PLCG1?Immune dysregulation, autoimmunity, and autoinflammation, 620514172420
PLCG2Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878; Familial cold autoinflammatory syndrome 3, 614468600220
PLCH1Holoprosencephaly 14, 619895612835
PLCZ1Spermatogenic failure 17, 617214608075
PLD1Cardiac valvular dysplasia 1, 212093602382
PLD3?Spinocerebellar ataxia 46, 617770615698
PLEC?Epidermolysis bullosa simplex 5D, generalized intermediate, 616487; Epidermolysis bullosa simplex 5B, with muscular dystrophy, 226670; Epidermolysis bullosa simplex 5C, with pyloric atresia, 612138; Epidermolysis bullosa simplex 5A, Ogna type, 131950; Muscular dystrophy, limb-girdle 17, 613723601282
PLEKHG2Leukodystrophy and acquired microcephaly with or without dystonia, 616763611893
PLEKHG5Neuronopathy, distal hereditary motor 4, 611067; Charcot-Marie-Tooth disease, recessive intermediate C, 615376611101
PLEKHM1?Osteopetrosis 6, 611497; Osteopetrosis 3, 618107611466
PLF{Pulmonary function}, 608852608852
PLGDysplasminogenemia, 217090; Angioedema, hereditary, 4, 619360; Plasminogen deficiency, type I, 217090173350
PLIN1Lipodystrophy, familial partial, type 4, 613877170290
PLIN4Myopathy with rimmed ubiquitin-positive autophagic vacuolation, 601846613247
PLK4Microcephaly and chorioretinopathy, 2, 616171605031
PLNCardiomyopathy, dilated, 1P, 609909; Cardiomyopathy, hypertrophic, 18, 613874172405
PLOD1Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400153454
PLOD2Bruck syndrome 2, 609220601865
PLOD3BCARD syndrome (lysyl hydroxylase 3 deficiency), 612394603066
PLP1Pelizaeus-Merzbacher disease, 312080, X-linked recessive; Spastic paraplegia 2, X-linked, 312920, X-linked recessive300401
PLPBPEpilepsy, early-onset, 1, vitamin B6-dependent, 617290604436
PLS1Deafness 76, 618787602734
PLS3Bone mineral density QTL18, osteoporosis, 300910, X-linked dominant; Diaphragmatic hernia 5, X-linked, 306950, X-linked300131
PLSA1Primary lateral sclerosis, adult, 1, 611637611637
PLVAPDiarrhea 10, protein-losing enteropathy type, 618183607647
PLXNA1Dworschak-Punetha neurodevelopmental syndrome, 619955601055
PLXND1Congenital heart defects, multiple types, 9, 620294604282
PMFBP1Spermatogenic failure 31, 618112618085
PMM2Congenital disorder of glycosylation, type Ia, 212065601785
PMP2Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279170715
PMP22Charcot-Marie-Tooth disease, type 1A, 118220; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393, ?Autosomal dominant; Neuropathy, recurrent, with pressure palsies, 162500; Dejerine-Sottas disease, 145900601097
PMPCASpinocerebellar ataxia 2, 213200613036
PMPCBMultiple mitochondrial dysfunctions syndrome 6, 617954603131
PMS2Lynch syndrome 4, 614337; Mismatch repair cancer syndrome 4, 619101600259
PMVKPorokeratosis 1, multiple types, 175800607622
PNKDParoxysmal nonkinesigenic dyskinesia 1, 118800609023
PNKD2Paroxysmal nonkinesigenic dyskinesia 2, 611147611147
PNKP?Charcot-Marie-Tooth disease, type 2B2, 605589; Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures, and developmental delay, 613402605610
PNLDC1Spermatogenic failure 57, 619528619529
PNLIP?Pancreatic lipase deficiency, 614338246600
PNPImmunodeficiency due to purine nucleoside phosphorylase deficiency, 613179164050
PNPLA1Ichthyosis, congenital 10, 615024612121
PNPLA2Neutral lipid storage disease with myopathy, 610717609059
PNPLA6Spastic paraplegia 39, 612020; Oliver-McFarlane syndrome, 275400; ?Laurence-Moon syndrome, 245800; Boucher-Neuhauser syndrome, 215470603197
PNPLA8?Mitochondrial myopathy with lactic acidosis, 251950612123
PNPOPyridoxamine 5'-phosphate oxidase deficiency, 610090603287
PNPT1Spinocerebellar ataxia 25, 608703; Deafness 70, with or without adult-onset neurodegeneration, 614934; Combined oxidative phosphorylation deficiency 13, 614932610316
POC1AShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813614783
POC1BCone-rod dystrophy 20, 615973614784
POF1B?Premature ovarian failure 2B, 300604, X-linked recessive300603
POFUT1Dowling-Degos disease 2, 615327607491
POGLUT1Dowling-Degos disease 4, 615696; Muscular dystrophy, limb-girdle 21, 617232615618
POGZWhite-Sutton syndrome, 616364614787
POLA1Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220, X-linked recessive; Van Esch-O'Driscoll syndrome, 301030, X-linked recessive312040
POLD1Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381; Immunodeficiency 120, 620836; {Colorectal cancer, susceptibility to, 10}, 612591174761
POLD3Immunodeficiency 122, 620869611415
POLE{Colorectal cancer, susceptibility to, 12}, 615083; FILS syndrome, 615139; IMAGE-I syndrome, 618336174762
POLGMitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia 1, 157640; Progressive external ophthalmoplegia 1, 258450174763
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletions 4, 610131; ?Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528; ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), 619425604983
POLHXeroderma pigmentosum, variant type, 278750603968
POLR1ALeukodystrophy, hypomyelinating, 27, 620675; Acrofacial dysostosis, Cincinnati type, 616462616404
POLR1BTreacher-Collins syndrome 4, 618939602000
POLR1CLeukodystrophy, hypomyelinating, 11, 616494; Treacher Collins syndrome 3, 248390610060
POLR1DTreacher Collins syndrome 2, 613717613715
POLR2ANeurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603180660
POLR3AWiedemann-Rautenstrauch syndrome, 264090; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694614258
POLR3BLeukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381; Charcot-Marie-Tooth disease, demyelinating, type 1I, 619742614366
POLR3F?Immunodeficiency 101 (varicella zoster virus-specific), 619872617455
POLR3GLShort stature, oligodontia, dysmorphic facies, and motor delay, 619234617457
POLR3KLeukodystrophy, hypomyelinating, 21, 619310606007
POLRMTCombined oxidative phosphorylation deficiency 55, 619743601778
POMC{Obesity, early-onset, susceptibility to}, 601665, Multifactorial; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734176830
POMGNT1Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3, 613151; Retinitis pigmentosa 76, 617123; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280606822
POMGNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135614828
POMK?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249615247
POMPProteasome-associated autoinflammatory syndrome 2, 618048; Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952613386
POMT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1, 613155607423
POMT2Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, 613156607439
PON1{Coronary artery spasm 2, susceptibility to}; {Organophosphate poisoning, sensitivity to}; {Coronary artery disease, susceptibility to}; {Microvascular complications of diabetes 5}, 612633168820
PON2{Coronary artery disease, susceptibility to}602447
POP1Anauxetic dysplasia 2, 617396602486
POPDC1Muscular dystrophy, limb-girdle 25, 616812604577
POPDC3Muscular dystrophy, limb-girdle 26, 618848605824
PORAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571124015
PORCNFocal dermal hypoplasia, 305600, X-linked dominant300651
POROK2Porokeratosis 2, palmar, plantar, and disseminated, 175850175850
POROK4Porokeratosis 4, disseminated superficial actinic, 607728607728
POROK5Porokeratosis 5, disseminated superficial actinic, 612293612293
POROK6Porokeratosis 6, multiple types, 612353612353
POT1Tumor predisposition syndrome 3, 615848; ?Cerebroretinal microangiopathy with calcifications and cysts 3, 620368; ?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8, 620367606478
POU1F1Pituitary hormone deficiency, combined or isolated, 1, 613038173110
POU3F3Snijders Blok-Fisher syndrome, 618604602480
POU3F4Deafness, X-linked 2, 304400, X-linked recessive300039
POU4F1Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, 619352601632
POU4F3Deafness 15/52, 602459602460
POU6F2{Wilms tumor susceptibility-5}, 601583, Somatic mutation609062
PPA2?Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222609988
PPARG{Diabetes, type 2}, 125853; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; [Obesity, resistance to]; Obesity, severe, 601665, Multifactorial; Carotid intimal medial thickness 1, 609338601487
PPCSCardiomyopathy, dilated, 2C, 618189609853
PPFIBP1Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, 620024603141
PPIBOsteogenesis imperfecta, type IX, 259440123841
PPIL1Pontocerebellar hypoplasia, type 14, 619301601301
PPIP5K2Deafness 100, 618422611648
PPKP1BKeratoderma, palmoplantar, punctate type IB, 614936614936
PPM1DBreast cancer, somatic, 114480; Jansen-de Vries syndrome, 617450605100
PPM1KMaple syrup urine disease, mild variant, 615135611065
PPOXVariegate porphyria, childhood-onset, 620483; Variegate porphyria, 176200600923
PPP1CBNoonan syndrome-like disorder with loose anagen hair 2, 617506600590
PPP1R12AGenitourinary and/or/brain malformation syndrome, 618820602021
PPP1R13LArrhythmogenic cardiomyopathy with variable ectodermal abnormalities, 620519607463
PPP1R15BMicrocephaly, short stature, and impaired glucose metabolism 2, 616817613257
PPP1R17{Hypercholesterolemia, susceptibility to}, 143890604088
PPP1R21Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, 619383618159
PPP1R3AInsulin resistance, severe, digenic, 125853600917
PPP2CAHouge-Janssens syndrome 3, 618354176915
PPP2R1AHouge-Janssens syndrome 2, 616362605983
PPP2R1BLung cancer, somatic, 211980603113
PPP2R2BSpinocerebellar ataxia 12, 604326604325
PPP2R3CSpermatogenic failure 36, 618420; Myoectodermal gonadal dysgenesis syndrome, 618419615902
PPP2R5DHouge-Janssens syndrome 1, 616355601646
PPP3CAArthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Developmental and epileptic encephalopathy 91, 617711114105
PPR1Photoparoxysmal response 1, 132100132100
PPR2Photoparoxysmal response 2, 609572609572
PPR3Photoparoxysmal response 3, 609573609573
PPT1Ceroid lipofuscinosis, neuronal, 1, 256730600722
PQBP1Renpenning syndrome, 309500, X-linked recessive300463
PRBNSPierre Robin syndrome, 261800261800
PRCCRenal cell carcinoma, papillary, 605074179755
PRCDRetinitis pigmentosa 36, 610599610598
PRDM10?Birt-Hogg-Dube syndrome 2, 620459618319
PRDM12Neuropathy, hereditary sensory and autonomic, type VIII, 616488616458
PRDM13Pontocerebellar hypoplasia, type 17, 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, 619761616741
PRDM16Left ventricular noncompaction 8, 615373; Cardiomyopathy, dilated, 1LL, 615373605557
PRDM5Brittle cornea syndrome 2, 614170614161
PRDM6Patent ductus arteriosus 3, 617039616982
PRDM8?Epilepsy, progressive myoclonic, 10, 616640616639
PRDX1Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400176763
PRDX3Spinocerebellar ataxia 32, 619862; Corneal dystrophy, punctiform and polychromatic pre-Descemet, 619871604769
PREPLMyasthenic syndrome, congenital, 22, 616224609557
PRF1Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Aplastic anemia, 609135; Lymphoma, non-Hodgkin, 605027170280
PRG4Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250604283
PRICKLE1Epilepsy, progressive myoclonic 1B, 612437608500
PRICKLE3{Leber hereditary optic neuropathy, modifier of}, 308905, X-linked dominant300111
PRIM1Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, 620005176635
PRIMPOLMyopia 22, 615420615421
PRKACACushing syndrome, ACTH-independent adrenal, somatic, 615830; Cardioacrofacial dysplasia 1, 619142601639
PRKACBCardioacrofacial dysplasia 2, 619143, Somatic mosaicism176892
PRKACG?Bleeding disorder, platelet-type, 19, 616176176893
PRKAG2Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200; Cardiomyopathy, hypertrophic 6, 600858602743
PRKAG3[Skeletal muscle glycogen content and metabolism QTL], 619030604976
PRKAR1APigmented nodular adrenocortical disease, primary, 1, 610489; Acrodysostosis 1, with or without hormone resistance, 101800; Adrenocortical tumor, somatic; Carney complex, type 1, 160980; Myxoma, intracardiac, 255960188830
PRKAR1BMarbach-Schaaf neurodevelopmental syndrome, 619680176911
PRKCAPituitary tumor, invasive176960
PRKCDAutoimmune lymphoproliferative syndrome, type III, 615559176977
PRKCGSpinocerebellar ataxia 14, 605361176980
PRKCH{Cerebral infarction, susceptibility to}, 601367, Multifactorial605437
PRKCSHPolycystic liver disease 1, 174050177060
PRKD1Congenital heart defects and ectodermal dysplasia, 617364605435
PRKDCImmunodeficiency 26, with or without neurologic abnormalities, 615966600899
PRKG1Aortic aneurysm, familial thoracic 8, 615436176894
PRKG2Spondylometaphyseal dysplasia, Pagnamenta type, 619638; Acromesomelic dysplasia 4, 619636601591
PRKNAdenocarcinoma of lung, somatic, 211980; Parkinson disease, juvenile, type 2, 600116; Ovarian cancer, somatic, 167000602544
PRKRADystonia 16, 612067603424
PRLRMultiple fibroadenomas of the breast, 615554; Hyperprolactinemia, 615555176761
PRMT7Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157610087
PRNPSpongiform encephalopathy with neuropsychiatric features, 606688; Gerstmann-Straussler disease, 137440; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; {Kuru, susceptibility to}, 245300; Cerebral amyloid angiopathy, PRNP-related, 137440; Creutzfeldt-Jakob disease, 123400176640
PROCThrombophilia 3 due to protein C deficiency, 176860; Thrombophilia 3 due to protein C deficiency, 612304612283
PRODH{Schizophrenia, susceptibility to, 4}, 600850; Hyperprolinemia, type I, 239500606810
PROK2Hypogonadotropic hypogonadism 4 with or without anosmia, 610628607002
PROKR2Hypogonadotropic hypogonadism 3 with or without anosmia, 244200607123
PROM1Macular dystrophy, retinal, 2, 608051; Retinitis pigmentosa 41, 612095; Stargardt disease 4, 603786; Cone-rod dystrophy 12, 612657604365
PROP1Pituitary hormone deficiency, combined, 2, 262600601538
PRORPCombined oxidative phosphorylation deficiency 54, 619737609947
PROS1Thrombophilia 5 due to protein S deficiency, 614514; Thrombophilia 5 due to protein S deficiency, 612336176880
PROZ[Protein Z deficiency], 614024176895
PRPF3Retinitis pigmentosa 18, 601414607301
PRPF31Retinitis pigmentosa 11, 600138606419
PRPF4Retinitis pigmentosa 70, 615922607795
PRPF6Retinitis pigmentosa 60, 613983613979
PRPF8Retinitis pigmentosa 13, 600059607300
PRPH{Amyotrophic lateral sclerosis, susceptibility to}, 105400170710
PRPH2Macular dystrophy, patterned, 1, 169150; Choroidal dystrophy, central areolar 2, 613105; Retinitis punctata albescens, 136880; Leber congenital amaurosis 18, 608133, Digenic dominant; Macular dystrophy, vitelliform, 3, 608161; Retinitis pigmentosa 7 and digenic form, 608133, Digenic dominant179605
PRPS1Arts syndrome, 301835, X-linked recessive; Phosphoribosylpyrophosphate synthetase superactivity, 300661, X-linked recessive; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070, X-linked recessive; Deafness, X-linked 1, 304500, X-linked; Gout, PRPS-related, 300661, X-linked recessive311850
PRR12Neuroocular syndrome, 619539616633
PRRT2Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751; Episodic kinesigenic dyskinesia 1, 128200614386
PRRX1Agnathia-otocephaly complex, 202650167420
PRSS1Pancreatitis, hereditary, 167800276000
PRSS12Intellectual developmental disorder 1, 249500606709
PRSS2{Pancreatitis, chronic, protection against}, 167800601564
PRSS56Microphthalmia, isolated 6, 613517613858
PRUNE1Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481617413
PRXCharcot-Marie-Tooth disease, type 4F, 614895; Dejerine-Sottas disease, 145900605725
PSAPCombined SAP deficiency, 611721; Krabbe disease, atypical, 611722; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; {Parkinson disease 24, susceptibility to}, 619491176801
PSAT1Neu-Laxova syndrome 2, 616038; Phosphoserine aminotransferase deficiency, 610992610936
PSCCholangitis, primary sclerosing, 613806613806
PSEN1Pick disease, 172700; Dementia, frontotemporal, 600274; ?Acne inversa, familial, 3, 613737; ?Cardiomyopathy, dilated, 1U, 613694; Alzheimer disease, type 3, with or without spastic paraparesis, 607822104311
PSEN2Alzheimer disease-4, 606889; Cardiomyopathy, dilated, 1V, 613697600759
PSENENAcne inversa, familial, 2, with or without Dowling-Degos disease, 613736607632
PSKH1Cholestasis, progressive familial intrahepatic, 13, 620962177015
PSMA6{Myocardial infarction, susceptibility to}, 608446602855
PSMB1?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language, 620038602017
PSMB10Immunodeficiency 121 with autoinflammation, 620807; Proteasome-associated autoinflammatory syndrome 5, 619175176847
PSMB4?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591602177
PSMB8Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040177046
PSMB9Proteasome-associated autoinflammatory syndrome 6, 620796177045
PSMC1?Birk-Aharoni syndrome, 620071602706
PSMC3?Deafness, cataract, impaired intellectual development, and polyneuropathy, 619354186852
PSMC3IPOvarian dysgenesis 3, 614324608665
PSMD12Stankiewicz-Isidor syndrome, 617516604450
PSMG2?Proteasome-associated autoinflammatory syndrome 4, 619183609702
PSMNSWParasomnia, sleepwalking type, 613938, Multifactorial613938
PSNP2Supranuclear palsy, progressive, 2, 609454609454
PSNP3Supranuclear palsy, progressive, 3, 610898610898
PSORS10{Psoriasis susceptibility 10}, 612410612410
PSORS11{Psoriasis susceptibility 11}, 612599612599
PSORS3{Psoriasis susceptibility 3}, 601454601454
PSORS4{Psoriasis susceptibility 4}, 603935603935
PSORS5{Psoriasis susceptibility 5}, 604316604316
PSORS6{Psoriasis susceptibility 6}, 605364605364
PSORS8{Psoriasis susceptibility 8}, 610707610707
PSORS9{Psoriasis susceptibility 9}, 607857607857
PSPHPhosphoserine phosphatase deficiency, 614023172480
PSS3Peeling skin syndrome 3, 616265616265
PSTPIP1Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, 601979; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416606347
PTCD3Combined oxidative phosphorylation deficiency 51, 619057614918
PTCH1Basal cell nevus syndrome 1, 109400; Basal cell carcinoma, somatic, 605462; Holoprosencephaly 7, 610828601309
PTCH2Medulloblastoma, somatic, 155255; Basal cell carcinoma, somatic, 605462603673
PTCHD1{Autism, susceptibility to, X-linked 4}, 300830, X-linked recessive300828
PTCPRNThyroid carcinoma, papillary, with papillary renal neoplasia, 605642605642
PTCRAImmunodeficiency 126, 620931606817
PTDSS1Lenz-Majewski hyperostotic dwarfism, 151050612792
PTEN{Glioma susceptibility 2}, 613028; {Meningioma}, 607174; Cowden syndrome 1, 158350; Lhermitte-Duclos disease, 158350; Prostate cancer, somatic, 176807; Macrocephaly/autism syndrome, 605309601728
PTF1APancreatic and cerebellar agenesis, 609069; Pancreatic agenesis 2, 615935607194
PTGDR{Asthma, susceptibility to, 1}, 607277604687
PTGER2{Asthma, aspirin-induced, susceptibility to}, 208550176804
PTGISHypertension, essential, 145500, Multifactorial601699
PTHHypoparathyroidism, familial isolated 1, 146200168450
PTH1RMetaphyseal chondrodysplasia, Murk Jansen type, 156400; Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350; Chondrodysplasia, Blomstrand type, 215045168468
PTHLHBrachydactyly, type E2, 613382168470
PTLAHPatella aplasia or hypoplasia, 168860168860
PTOS1Ptosis, hereditary congenital, 1, 178300178300
PTOS2Ptosis, hereditary congenital 2, 300245, X-linked dominant300245
PTPAParkinson disease 25 early-onset, with impaired intellectual development, 620482600756
PTPN1{Insulin resistance, susceptibility to}, 125853176885
PTPN11Noonan syndrome 1, 163950; LEOPARD syndrome 1, 151100; Metachondromatosis, 156250; Leukemia, juvenile myelomonocytic, somatic, 607785176876
PTPN12Colon cancer, somatic, 114500600079
PTPN14Choanal atresia and lymphedema, 613611603155
PTPN22{Rheumatoid arthritis, susceptibility to}, 180300; {Systemic lupus erythematosus susceptibility to}, 152700; {Diabetes, type 1, susceptibility to}, 222100600716
PTPN23Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, 618890606584
PTPRCImmunodeficiency 105, severe combined, 619924151460
PTPRF?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001179590
PTPRJColon cancer, somatic, 114500; Thrombocytopenia 10, 620484600925
PTPRONephrotic syndrome, type 6, 614196600579
PTPRQDeafness 73, 617663; Deafness 84A, 613391603317
PTRH2Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263608625
PTRHD1Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, 620747617342
PTSHyperphenylalaninemia, BH4-deficient, A, 261640612719
PUF60Verheij syndrome, 615583604819
PUM1Spinocerebellar ataxia 47, 617931; Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, 620719607204
PURANeurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, 616158600473
PURAQTL1[Polyunsaturated fatty acids plasma level QTL1], 612795612795
PUS1Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462608109
PUS3Neurodevelopmental disorder with microcephaly and gray sclerae, 617051616283
PUS7Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342616261
PVNH3Periventricular nodular heterotopia 3, 608098608098
PVOP1{Pelvic organ prolapse, susceptibility to, 1}, 176780176780
PVOP2{Pelvic organ prolapse, susceptibility to, 2}, 613088613088
PXDNAnterior segment dysgenesis 7, with sclerocornea, 269400605158
PYCR1Cutis laxa, type IIIB, 614438; Cutis laxa, type IIB, 612940179035
PYCR2Leukodystrophy, hypomyelinating, 10, 616420616406
PYGLGlycogen storage disease VI, 232700613741
PYGMMcArdle disease, 232600608455
PYROXD1Myopathy, myofibrillar, 8, 617258617220
QARS1Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760603727
QDPRHyperphenylalaninemia, BH4-deficient, C, 261630612676
QRICH1Ververi-Brady syndrome, 617982617387
QRICH2Spermatogenic failure 35, 618341618304
QRSL1Combined oxidative phosphorylation deficiency 40, 618835617209
QTV[QT interval, variation in], 610141610141
RAB11BNeurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807604198
RAB18Warburg micro syndrome 3, 614222602207
RAB23Carpenter syndrome, 201000606144
RAB27AGriscelli syndrome, type 2, 607624603868
RAB28Cone-rod dystrophy 18, 615374612994
RAB32{Parkinson disease 26, susceptibility to}, 620923612906
RAB33BSmith-McCort dysplasia 2, 615222605950
RAB34Orofaciodigital syndrome XX, 620718610917
RAB39BIntellectual developmental disorder, X-linked 72, 300271, X-linked recessive; Waisman syndrome, 311510, X-linked recessive300774
RAB3GAP1Martsolf syndrome 2, 619420; Warburg micro syndrome 1, 600118602536
RAB3GAP2Martsolf syndrome 1, 212720; Warburg micro syndrome 2, 614225609275
RAB5IF?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, 616994619960
RAB7ACharcot-Marie-Tooth disease, type 2B, 600882602298
RABL3{?Pancreatic cancer, susceptibility to, 5}, 618680618542
RAC1Intellectual developmental disorder 48, 617751602048
RAC2Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis, 608203; ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia, 618987; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia, 618986602049
RAC3Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577602050
RACGAP1Anemia, congenital dyserythropoietic, type IIIb, 619789604980
RAD21Cornelia de Lange syndrome 4, 614701; ?Mungan syndrome, 611376606462
RAD50Nijmegen breakage syndrome-like disorder, 613078604040
RAD51Mirror movements 2, 614508; {Breast cancer, susceptibility to}, 114480, Somatic mutation; Fanconi anemia, complementation group R, 617244179617
RAD51C{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399; Fanconi anemia, complementation group O, 613390602774
RAD51D{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291602954
RAD54BColon cancer, somatic, 114500; Lymphoma, non-Hodgkin, somatic, 605027604289
RAD54L{Breast cancer, invasive ductal}, 114480, Somatic mutation; Adenocarcinoma, colonic, somatic; Lymphoma, non-Hodgkin, somatic, 605027603615
RAF1Cardiomyopathy, dilated, 1NN, 615916; Noonan syndrome 5, 611553; LEOPARD syndrome 2, 611554164760
RAG1Omenn syndrome, 603554; Severe combined immunodeficiency, B cell-negative, 601457; Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889179615
RAG2Severe combined immunodeficiency, B cell-negative, 601457; Combined cellular and humoral immune defects with granulomas, 233650; Omenn syndrome, 603554179616
RAI1Smith-Magenis syndrome, 182290, Isolated cases607642
RALAHiatt-Neu-Cooper neurodevelopmental syndrome, 619311179550
RALGAPA1Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, 618797608884
RANBP2{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033601181
RAP1BThrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, 620654179530
RAP1GDS1Alfadhel syndrome, 620655179502
RAPGEF2?Epilepsy, familial adult myoclonic, 7, 618075609530
RAPSNFetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326601592
RARALeukemia, acute promyelocytic, 612376180240
RARBMicrophthalmia, syndromic 12, 615524180220
RARS1Leukodystrophy, hypomyelinating, 9, 616140107820
RARS2Pontocerebellar hypoplasia, type 6, 611523611524
RASA1Capillary malformation-arteriovenous malformation 1, 608354; Basal cell carcinoma, somatic, 605462139150
RASGRP1Immunodeficiency 64, 618534603962
RASGRP2?Bleeding disorder, platelet-type, 18, 615888605577
RAXMicrophthalmia, syndromic 16, 611038601881
RAX2Retinitis pigmentosa 95, 620102; Cone-rod dystrophy 11, 610381; ?Macular degeneration, age-related, 6, 613757610362
RB1Small cell cancer of the lung, somatic, 182280; Bladder cancer, somatic, 109800; Retinoblastoma, trilateral, 180200, Somatic mutation; Osteosarcoma, somatic, 259500; Retinoblastoma, 180200, Somatic mutation614041
RB1CC1Breast cancer, somatic, 114480606837
RBBP8Seckel syndrome 2, 606744; Jawad syndrome, 251255; Pancreatic carcinoma, somatic604124
RBCK1Polyglucosan body myopathy 1 with or without immunodeficiency, 615895610924
RBL2Brunet-Wagner neurodevelopmental syndrome, 619690180203
RBM10TARP syndrome, 311900, X-linked recessive300080
RBM12{Schizophrenia 19, susceptibility to}, 617629607179
RBM20Cardiomyopathy, dilated, 1DD, 613172613171
RBM28?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079612074
RBM8AThrombocytopenia-absent radius syndrome, 274000605313
RBMX?Intellectual developmental disorder, X-linked syndromic, Gustavson type, 309555, X-linked recessive; ?Intellectual developmental disorder, X-linked syndromic, Shashi type, 300238, X-linked recessive300199
RBP3?Retinitis pigmentosa 66, 615233180290
RBP4Microphthalmia/coloboma 10, 616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147180250
RBPJAdams-Oliver syndrome 3, 614814147183
RBSNMyelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, 620939; Kariminejad-Reversade neurodevelopmental syndrome, 620937609511
RC3H1?Immune dysregulation and systemic hyperinflammation syndrome, 618998609424
RCBTB1Retinal dystrophy with or without extraocular anomalies, 617175607867
RCD1?Retinal cone dystrophy-1, 180020180020
RCM2Cardiomyopathy, familial restrictive, 2, 609578609578
RD3Leber congenital amaurosis 12, 610612180040
RDH11?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108607849
RDH12Leber congenital amaurosis 13, 612712608830
RDH5Fundus albipunctatus, 136880601617
RDXDeafness 24, 611022179410
REC114Oocyte/zygote/embryo maturation arrest 10, 619176618421
RECQLRECON progeroid syndrome, 620370600537
RECQL4Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome, type 2, 268400; RAPADILINO syndrome, 266280603780
REEP1Neuronopathy, distal hereditary motor 6, 620011; Spastic paraplegia 31, 610250; ?Neuronopathy, distal hereditary motor 12, 614751609139
REEP2Spastic paraplegia 72A, 615625; ?Spastic paraplegia 72B, 620606609347
REEP6Retinitis pigmentosa 77, 617304609346
RELImmunodeficiency 92, 619652164910
RELAAutoinflammatory disease, familial, Behcet-like-3, 618287164014
RELB?Immunodeficiency 53, 617585604758
RELN{Epilepsy, familial temporal lobe, 7}, 616436; Lissencephaly 2 (Norman-Roberts type), 257320600514
RELTAmelogenesis imperfecta, type IIIC, 618386611211
RENRenal tubular dysgenesis, 267430; [Hyperproreninemia]; Tubulointerstitial kidney disease, 4, 613092179820
REPS1?Neurodegeneration with brain iron accumulation 7, 617916614825
RERENeurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975605226
RESTDeafness 27, 612431; {Wilms tumor 6, susceptibility to}, 616806; Fibromatosis, gingival, 5, 617626600571
RET{Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; {Hirschsprung disease, protection against}, 142623; Medullary thyroid carcinoma, 155240; Pheochromocytoma, 171300; Multiple endocrine neoplasia IIB, 162300164761
RETN{Hypertension, insulin resistance-related, susceptibility to}, 125853; {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853605565
RETREG1Neuropathy, hereditary sensory and autonomic, type IIB, 613115613114
RFC1Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575102579
RFH1Nephropathy-hypertension, 161900161900
RFT1Congenital disorder of glycosylation, type In, 612015611908
RFWD3?Fanconi anemia, complementation group W, 617784614151
RFX5?MHC class II deficiency 5, 620818; MHC class II deficiency 3, 620816601863
RFX6Mitchell-Riley syndrome, 615710612659
RFX7Intellectual developmental disorder 71, with behavioral abnormalities, 620330612660
RFXANKMHC class II deficiency 2, 620815603200
RFXAPMHC class II deficiency 4, 620817601861
RGRRetinitis pigmentosa 44, 613769600342
RGS5[Blood pressure regulation QTL], 145500, Multifactorial603276
RGS9Prolonged electroretinal response suppression 1, 608415604067
RGS9BPProlonged electroretinal response suppression 2, 620344607814
RHAGOverhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150180297
RHBDF2Tylosis with esophageal cancer, 148500614404
RHCERh-null disease, amorph type, 617970111700
RHD{Hemolytic disease of fetus and newborn, RH-induced}, 619462, Isolated cases; [Blood group, RH system], 111690111680
RHONight blindness, congenital stationary 1, 610445; Retinitis pigmentosa 4 or recessive, 613731; Retinitis punctata albescens, 136880180380
RHOAEctodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, 618727165390
RHOBTB2Developmental and epileptic encephalopathy 64, 618004607352
RHOH{?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307602037
RIC1CATIFA syndrome, 618761610354
RIEG2Rieger syndrome, type 2, 601499601499
RIGISingleton-Merten syndrome 2, 616298609631
RILPL1Oculopharyngodistal myopathy 4, 619790614092
RIMS2Cone-rod synaptic disorder syndrome, congenital nonprogressive, 618970606630
RIN2Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075610222
RINT1Infantile liver failure syndrome 3, 618641610089
RIPK1Immunodeficiency 57 with autoinflammation, 618108; Autoinflammation with episodic fever and lymphadenopathy, 618852603453
RIPK4CHAND syndrome, 214350; Popliteal pterygium syndrome, Bartsocas-Papas type 1, 263650605706
RIPOR2Deafness 21, 607017; ?Deafness 104, 616515611410
RIPPLY2?Spondylocostal dysostosis 6, 616566609891
RIT1Noonan syndrome 8, 615355609591
RLBP1Bothnia retinal dystrophy, 607475; Newfoundland rod-cone dystrophy, 607476; Retinitis punctata albescens, 136880; Fundus albipunctatus, 136880180090
RLIMTonne-Kalscheuer syndrome, 300978, X-linked300379
RLS1{Restless legs syndrome 1}, 102300102300
RLS2{Restless legs syndrome 2}, 608831608831
RLS3{Restless legs syndrome 3}, 610438610438
RLS4{Restless legs syndrome 4}, 610439610439
RLS5{Restless legs syndrome 5}, 611242611242
RLS6{Restless legs syndrome 6}, 611185611185
RLS7{Restless legs syndrome 7}, 612853612853
RLS8{Restless legs syndrome 8}, 615197615197
RMD1Rippling muscle disease-1, 600332600332
RMND1Combined oxidative phosphorylation deficiency 11, 614922614917
RMRPAnauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250157660
RNASEH1Progressive external ophthalmoplegia with mitochondrial DNA deletions 2, 616479604123
RNASEH2AAicardi-Goutieres syndrome 4, 610333606034
RNASEH2BAicardi-Goutieres syndrome 2, 610181610326
RNASEH2CAicardi-Goutieres syndrome 3, 610329610330
RNASELProstate cancer 1, 601518180435
RNASET2Leukoencephalopathy, cystic, without megalencephaly, 612951612944
RNF113ATrichothiodystrophy 5, nonphotosensitive, 300953, X-linked300951
RNF125Tenorio syndrome, 616260610432
RNF13Developmental and epileptic encephalopathy 73, 618379609247
RNF139Renal cell carcinoma, 144700603046
RNF168RIDDLE syndrome, 611943612688
RNF170Ataxia, sensory, 1, 608984; Spastic paraplegia 85, 619686614649
RNF2Luo-Schoch-Yamamoto syndrome, 619460608985
RNF212?Spermatogenic failure 62, 619673; Recombination rate QTL 1, 612042612041
RNF213{Moyamoya disease 2, susceptibility to}, 607151613768
RNF216Cerebellar ataxia and hypogonadotropic hypogonadism, 212840609948
RNF220Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, 619688616136
RNF31Immunodeficiency 115 with autoinflammation, 620632612487
RNF43Sessile serrated polyposis cancer syndrome, 617108612482
RNF6Esophageal carcinoma, somatic, 133239604242
RNH1{Encephalopathy, acute, infection-induced, susceptibility to, 12}, 620461173320
RNPC3Pituitary hormone deficiency, combined or isolated, 7, 618160618016
RNU12CDAGS syndrome, 603116; ?Spinocerebellar ataxia 33, 620208620204
RNU4-2ReNU syndrome, 620851620823
RNU4ATACRoifman syndrome, 616651; Lowry-Wood syndrome, 226960; Microcephalic osteodysplastic primordial dwarfism, type I, 210710601428
RNU7-1Aicardi-Goutieres syndrome 9, 619487617876
ROBO1Pituitary hormone deficiency, combined or isolated, 8, 620303; Neurooculorenal syndrome, 620305; ?Nystagmus 8, congenital, 257400602430
ROBO2Vesicoureteral reflux 2, 610878602431
ROBO3Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313608630
ROBO4Aortic valve disease 3, 618496607528
ROGDIKohlschutter-Tonz syndrome, 226750614574
ROM1Retinitis pigmentosa 7, digenic form, 608133, Digenic dominant180721
ROR1?Deafness 108, 617654602336
ROR2Brachydactyly, type B1, 113000; Robinow syndrome, 268310602337
RORAIntellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060600825
RORB{Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357601972
RORCImmunodeficiency 42, 616622602943
RP1Retinitis pigmentosa 1, 180100603937
RP1L1Occult macular dystrophy, 613587; Retinitis pigmentosa 88, 618826608581
RP2Retinitis pigmentosa 2, 312600, X-linked300757
RP22Retinitis pigmentosa 22, 602594602594
RP24Retinitis pigmentosa 24, 300155300155
RP29Retinitis pigmentosa 29, 612165612165
RP34Retinitis pigmentosa 34, 300605300605
RP6?Retinitis pigmentosa, X-linked recessive, 6, 312612, X-linked312612
RP63Retinitis pigmentosa 63, 614494614494
RP9?Retinitis pigmentosa 9, 180104607331
RPA1Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6, 619767179835
RPE65Retinitis pigmentosa 20, 613794; Retinitis pigmentosa 87 with choroidal involvement, 618697; Leber congenital amaurosis 2, 204100180069
RPGRRetinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455, X-linked; Cone-rod dystrophy, X-linked, 1, 304020, X-linked recessive; Retinitis pigmentosa 3, 300029, X-linked; Macular degeneration, X-linked atrophic, 300834, X-linked recessive312610
RPGRIP1Cone-rod dystrophy 13, 608194; Leber congenital amaurosis 6, 613826605446
RPGRIP1LJoubert syndrome 7, 611560; Meckel syndrome 5, 611561; ?COACH syndrome 3, 619113610937
RPIARibose 5-phosphate isomerase deficiency, 608611180430
RPL10{Autism, susceptibility to, X-linked 5}, 300847; Intellectual developmental disorder, X-linked syndromic 35, 300998, X-linked recessive312173
RPL10L?Spermatogenic failure 63, 619689619655
RPL11Diamond-Blackfan anemia 7, 612562604175
RPL13Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, 618728113703
RPL15Diamond-Blackfan anemia 12, 615550604174
RPL18?Diamond-Blackfan anemia 18, 618310604179
RPL21Hypotrichosis 12, 615885603636
RPL26?Diamond-Blackfan anemia 11, 614900603704
RPL27?Diamond-Blackfan anemia 16, 617408607526
RPL35?Diamond-Blackfan anemia 19, 618312618315
RPL35ADiamond-Blackfan anemia 5, 612528180468
RPL3LCardiomyopathy, dilated, 2D, 619371617416
RPL5Diamond-Blackfan anemia 6, 612561603634
RPS10Diamond-Blackfan anemia 9, 613308603632
RPS14Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550130620
RPS15A?Diamond-Blackfan anemia 20, 618313603674
RPS17Diamond-Blackfan anemia 4, 612527180472
RPS19Diamond-Blackfan anemia 1, 105650603474
RPS23Brachycephaly, trichomegaly, and developmental delay, 617412603683
RPS24Diamond-blackfan anemia 3, 610629602412
RPS26Diamond-Blackfan anemia 10, 613309603701
RPS27?Diamond-Blackfan anemia 17, 617409603702
RPS28Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164603685
RPS29Diamond-Blackfan anemia 13, 615909603633
RPS6KA3Intellectual developmental disorder, X-linked 19, 300844, X-linked dominant; Coffin-Lowry syndrome, 303600, X-linked dominant300075
RPS7Diamond-Blackfan anemia 8, 612563603658
RPSAAsplenia, isolated congenital, 271400150370
RPYRetinitis pigmentosa, Y-linked, 400004, Y-linked400004
RRAGCLong-Olsen-Distelmaier syndrome, 620609608267
RRAGDHypomagnesemia 7, renal, with or without dilated cardiomyopathy, 620152608268
RRAS2Ovarian carcinoma; Noonan syndrome 12, 618624600098
RRDXRadial ray deficiency, 300378300378
RRIS[Respiratory rhythmicity in sleep], 609116609116
RRM1Progressive external ophthalmoplegia with mitochondrial DNA deletions 6, 620647180410
RRM2BMitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, 268315; Progressive external ophthalmoplegia with mitochondrial DNA deletions 5, 613077604712
RRP7A?Microcephaly 28, primary, 619453619449
RS1Retinoschisis, 312700, X-linked recessive300839
RSCISRadiation sensitivity/chromosome instability syndrome605463
RSPH1Ciliary dyskinesia, primary, 24, 615481609314
RSPH3Ciliary dyskinesia, primary, 32, 616481615876
RSPH4ACiliary dyskinesia, primary, 11, 612649612647
RSPH9Ciliary dyskinesia, primary, 12, 612650612648
RSPO1Palmoplantar hyperkeratosis and true hermaphroditism, 610644; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644609595
RSPO2?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022; Tetraamelia syndrome 2, 618021610575
RSPO4Anonychia congenita, 206800610573
RSPRY1Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723616585
RSRC1Intellectual developmental disorder 70, 618402613352
RTEL1Dyskeratosis congenita 4, 615190; Dyskeratosis congenita 5, 615190; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, 616373608833
RTN2Neuronopathy, distal hereditary motor 11, with spasticity, 620854; Spastic paraplegia 12, 604805603183
RTN4IP1Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures, 616732610502
RTN4R{Schizophrenia, susceptibility to}, 181500605566
RTTNMicrocephaly, short stature, and polymicrogyria with seizures, 614833610436
RUBCNSpinocerebellar ataxia 15, 615705613516
RUNX1Platelet disorder, familial, with associated myeloid malignancy, 601399; Leukemia, acute myeloid, 601626, Somatic mutation151385
RUNX2Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, 119600600211
RUSC2Intellectual developmental disorder 61, 617773611053
RWS?Ragweed sensitivity, 179450179450
RXYLT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041605862
RYR1Congenital myopathy 1B, 255320; Congenital myopathy 1A, with susceptibility to malignant hyperthermia, 117000; King-Denborough syndrome, 619542; {Malignant hyperthermia susceptibility 1}, 145600180901
RYR2Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, 115000180902
RYR3Congenital myopathy 20, 620310180903
S1PR2Deafness 68, 610419605111
SACSSpastic ataxia, Charlevoix-Saguenay type, 270550604490
SAGRetinitis pigmentosa 47, 613758; Retinitis pigmentosa 96, 620228; Oguchi disease-1, 258100181031
SALL1Townes-Brocks syndrome 1, 107480; Townes-Brocks branchiootorenal-like syndrome, 107480602218
SALL2?Coloboma, ocular, 216820602219
SALL4?IVIC syndrome, 147750; Duane-radial ray syndrome, 607323607343
SAMD12Epilepsy, familial adult myoclonic, 1, 601068618073
SAMD7Macular dystrophy with or without cone dysfunction, 620762620493
SAMD9Tumoral calcinosis, familial, normophosphatemic, 610455; Monosomy 7 myelodysplasia and leukemia syndrome 2, 619041; MIRAGE syndrome, 617053610456
SAMD9LAtaxia-pancytopenia syndrome, 159550; ?Spinocerebellar ataxia 49, 619806; Monosomy 7 myelodysplasia and leukemia syndrome 1, 252270611170
SAMHD1?Chilblain lupus 2, 614415; Aicardi-Goutieres syndrome 5, 612952606754
SAR1BChylomicron retention disease, 246700607690
SARDH[Sarcosinemia], 268900604455
SARS1Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709607529
SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845612804
SASH1Dyschromatosis universalis hereditaria 1, 127500; ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373607955
SASH3Immunodeficiency 102, 301082, X-linked recessive300441
SASS6Microcephaly 14, primary, 616402609321
SATB1den Hoed-de Boer-Voisin syndrome, 619229; Developmental delay with dysmorphic facies and dental anomalies, 619228602075
SATB2Glass syndrome, 612313608148
SBDS{Aplastic anemia, susceptibility to}, 609135; Shwachman-Diamond syndrome 1, 260400607444
SBF1Charcot-Marie-Tooth disease, type 4B3, 615284603560
SBF2Charcot-Marie-Tooth disease, type 4B2, 604563607697
SC5DLathosterolosis, 607330602286
SCA18Spinocerebellar ataxia 18, 607458607458
SCA30?Spinocerebellar ataxia 30, 613371613371
SCAF4Fliedner-Zweier syndrome, 620511616023
SCAPERIntellectual developmental disorder and retinitis pigmentosa, 618195611611
SCAR3Spinocerebellar ataxia 3, 271250271250
SCARB1[High density lipoprotein cholesterol level QTL6], 610762601040
SCARB2Epilepsy, progressive myoclonic 4, with or without renal failure, 254900602257
SCARF2Van den Ende-Gupta syndrome, 600920613619
SCAX5Spinocerebellar ataxia, X-linked 5, 300703, X-linked recessive300703
SCD5?Deafness 79, 619086608370
SCGB3A2{Asthma, susceptibility to}, 600807606531
SCLC1Small-cell cancer of lung, 182280182280
SCN10AEpisodic pain syndrome, familial, 2, 615551604427
SCN11AEpisodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548604385
SCN1ADevelopmental and epileptic encephalopathy 6B, non-Dravet, 619317; Migraine, familial hemiplegic, 3, 609634; Dravet syndrome, 607208; Febrile seizures, familial, 3A, 604403; Generalized epilepsy with febrile seizures plus, type 2, 604403182389
SCN1BGeneralized epilepsy with febrile seizures plus, type 1, 604233; Developmental and epileptic encephalopathy 52, 617350; Cardiac conduction defect, nonspecific, 612838; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838600235
SCN2ASeizures, benign familial infantile, 3, 607745; Developmental and epileptic encephalopathy 11, 613721; Episodic ataxia, type 9, 618924182390
SCN2BAtrial fibrillation, familial, 14, 615378601327
SCN3AEpilepsy, familial focal, with variable foci 4, 617935; Developmental and epileptic encephalopathy 62, 617938182391
SCN3BAtrial fibrillation, familial, 16, 613120; Brugada syndrome 7, 613120608214
SCN4AParamyotonia congenita, 168300; Hyperkalemic periodic paralysis, 170500; Congenital myopathy 22B, severe fetal, 620369; Hypokalemic periodic paralysis, type 2, 613345; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Myasthenic syndrome, congenital, 16, 614198; Congenital myopathy 22A, classic, 620351603967
SCN4BAtrial fibrillation, familial, 17, 611819; Long QT syndrome 10, 611819608256
SCN5AVentricular fibrillation, familial, 1, 603829; Heart block, progressive, type IA, 113900; Cardiomyopathy, dilated, 1E, 601154; Heart block, nonprogressive, 113900; Long QT syndrome 3, 603830; Sick sinus syndrome 1, 608567; Brugada syndrome 1, 601144; Atrial fibrillation, familial, 10, 614022; {Sudden infant death syndrome, susceptibility to}, 272120600163
SCN8A?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306; Developmental and epileptic encephalopathy 13, 614558600702
SCN9AErythermalgia, primary, 133020; Insensitivity to pain, congenital, 243000; Small fiber neuropathy, 133020; Paroxysmal extreme pain disorder, 167400; Neuropathy, hereditary sensory and autonomic, type IID, 243000603415
SCNM1Orofaciodigital syndrome XIX, 620107608095
SCNN1APseudohypoaldosteronism, type IB1, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021600228
SCNN1BBronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type IB2, 620125; Liddle syndrome 1, 177200600760
SCNN1GBronchiectasis with or without elevated sweat chloride 3, 613071; Pseudohypoaldosteronism, type IB3, 620126; Liddle syndrome 2, 618114600761
SCO1Mitochondrial complex IV deficiency, nuclear type 4, 619048603644
SCO2Myopia 6, 608908; Mitochondrial complex IV deficiency, nuclear type 2, 604377604272
SCP2?Leukoencephalopathy with dystonia and motor neuropathy, 613724184755
SCUBE3Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 619184614708
SCYL1Spinocerebellar ataxia 21, 616719607982
SCYL2Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766616365
SCZD1{Schizophrenia}, 181500181510
SCZD10{Schizophrenia 10}, 605419605419
SCZD11{Schizophrenia}, 181500608078
SCZD12{Schizophrenia 12}, 181500608543
SCZD13{Schizophrenia, susceptibility to, 13}, 613025613025
SCZD14{Schizophrenia, susceptibility to, 14}, 612361612361
SCZD2{?Schizophrenia}, 181500603342
SCZD3{Schizophrenia}, 181500600511
SCZD6{Schizophrenia}, 181500603013
SCZD7{Schizophrenia}, 181500603176
SCZD8{Schizophrenia}, 181500603206
SDC3{Obesity, association with}, 601665, Multifactorial186357
SDCCAG8Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993613524
SDHACardiomyopathy, dilated, 1GG, 613642; Mitochondrial complex II deficiency, nuclear type 1, 252011; Neurodegeneration with ataxia and late-onset optic atrophy, 619259; Pheochromocytoma/paraganglioma syndrome 5, 614165600857
SDHAF1Mitochondrial complex II deficiency, nuclear type 2, 619166612848
SDHAF2Pheochromocytoma/paraganglioma syndrome 2, 601650613019
SDHBPheochromocytoma/paraganglioma syndrome 4, 115310; Mitochondrial complex II deficiency, nuclear type 4, 619224; Gastrointestinal stromal tumor, 606764, Isolated cases; Paraganglioma and gastric stromal sarcoma, 606864185470
SDHCPheochromocytoma/paraganglioma syndrome 3, 605373; Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764, Isolated cases602413
SDHDPheochromocytoma/paraganglioma syndrome 1, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Mitochondrial complex II deficiency, nuclear type 3, 619167602690
SDR9C7Ichthyosis, congenital 13, 617574609769
SEC23ACraniolenticulosutural dysplasia, 607812610511
SEC23B?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100610512
SEC24DCole-Carpenter syndrome 2, 616294607186
SEC31A?Halperin-Birk syndrome, 618651610257
SEC61A1Immunodeficiency, common variable, 15, 620670; ?Neutropenia, severe congenital, 11, 620674; Tubulointerstitial kidney disease, 5, 617056609213
SEC63Polycystic liver disease 2, 617004608648
SECISBP2Thyroid hormone metabolism, abnormal, 1, 609698607693
SELENBP1Extraoral halitosis due to MTO deficiency, 618148604188
SELENOISpastic paraplegia 81, 618768607915
SELENONCongenital myopathy 3 with rigid spine, 602771606210
SEMA3A{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897603961
SEMA4ARetinitis pigmentosa 35, 610282; Cone-rod dystrophy 10, 610283607292
SEMA6BEpilepsy, progressive myoclonic, 11, 618876608873
SEMA7A?Cholestasis, progressive familial intrahepatic, 11, 619874; [Blood group, John-Milton-Hagen system], 614745607961
SEPSECSPontocerebellar hypoplasia type 2D, 613811613009
SEPTIN12Spermatogenic failure 10, 614822611562
SEPTIN9Amyotrophy, hereditary neuralgic, 162100604061
SERAC13-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739614725
SERPINA1Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490; Emphysema due to AAT deficiency, 613490; Emphysema-cirrhosis, due to AAT deficiency, 613490107400
SERPINA3Alpha-1-antichymotrypsin deficiency; Cerebrovascular disease, occlusive107280
SERPINA6Corticosteroid-binding globulin deficiency, 611489122500
SERPINA7[Thyroxine-binding globulin QTL], 300932, X-linked314200
SERPINB6?Deafness 91, 613453173321
SERPINB7Palmoplantar keratoderma, Nagashima type, 615598603357
SERPINB8Peeling skin syndrome 5, 617115601697
SERPINC1Thrombophilia 7 due to antithrombin III deficiency, 613118107300
SERPIND1Thrombophilia 10 due to heparin cofactor II deficiency, 612356142360
SERPINE1Plasminogen activator inhibitor-1 deficiency, 613329; {Transcription of plasminogen activator inhibitor, modulator of}173360
SERPINF1Osteogenesis imperfecta, type VI, 613982172860
SERPINF2Alpha-2-plasmin inhibitor deficiency, 262850613168
SERPING1Angioedema, hereditary, 1 and 2, 106100; Complement component 4, partial deficiency of, 120790606860
SERPINH1{Preterm premature rupture of the membranes, susceptibility to}, 610504, Multifactorial; Osteogenesis imperfecta, type X, 613848600943
SERPINI1Encephalopathy, familial, with neuroserpin inclusion bodies, 604218602445
SETIntellectual developmental disorder 58, 618106600960
SETBP1Schinzel-Giedion midface retraction syndrome, 269150; Intellectual developmental disorder 29, 616078611060
SETD1AEpilepsy, early-onset, 2, with or without developmental delay, 618832; Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056611052
SETD1BIntellectual developmental disorder with seizures and language delay, 619000611055
SETD2Luscan-Lumish syndrome, 616831; Intellectual developmental disorder 70, 620157; Rabin-Pappas syndrome, 620155612778
SETD5Intellectual developmental disorder 23, 615761615743
SETXSpinocerebellar ataxia, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433608465
SF[Blood group, Stoltzfus system], 111800111800
SF3B1Myelodysplastic syndrome, somatic, 614286605590
SF3B2Craniofacial microsomia, 164210605591
SF3B4Acrofacial dysostosis 1, Nager type, 154400605593
SFRP4Pyle disease, 265900606570
SFTPA1Interstitial lung disease 1, 619611178630
SFTPA2Interstitial lung disease 2, 178500178642
SFTPBSurfactant metabolism dysfunction, pulmonary, 1, 265120178640
SFTPCSurfactant metabolism dysfunction, pulmonary, 2, 610913178620
SFXN4Combined oxidative phosphorylation deficiency 18, 615578615564
SGCAMuscular dystrophy, limb-girdle 3, 608099600119
SGCBMuscular dystrophy, limb-girdle 4, 604286600900
SGCDCardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle 6, 601287601411
SGCEDystonia-11, myoclonic, 159900604149
SGCGMuscular dystrophy, limb-girdle 5, 253700608896
SGMS2Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, 126550611574
SGO1Chronic atrial and intestinal dysrhythmia, 616201609168
SGPL1RENI syndrome, 617575603729
SGSHMucopolysaccharidosis type IIIA (Sanfilippo A), 252900605270
SH2B3Thrombocythemia, somatic, 187950; Myelofibrosis, somatic, 254450; Erythrocytosis, somatic, 133100605093
SH2D1ALymphoproliferative syndrome, X-linked, 1, 308240, X-linked recessive300490
SH3BP2Cherubism, 118400602104
SH3GL1Leukemia, acute myeloid, 601626, Somatic mutation601768
SH3KBP1?Immunodeficiency 61, 300310, X-linked recessive300374
SH3PXD2BFrank-ter Haar syndrome, 249420613293
SH3TC2Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353608206
SHANK2{Autism susceptibility 17}, 613436603290
SHANK3Phelan-McDermid syndrome, 606232; {Schizophrenia 15}, 613950606230
SHARPINAutoinflammation with episodic fever and immune dysregulation, 620795611885
SHFL1Split-hand/foot malformation with long bone deficiency 1, 119100119100
SHFLD2Split-hand/foot malformation with long bone deficiency 2, 610685610685
SHFM2Split hand/foot malformation 2, 313350, X-linked313350
SHFM5Split-hand/foot malformation 5, 606708606708
SHHSingle median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia/coloboma 5, 611638600725
SHMT2Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121138450
SHOC1Spermatogenic failure 75, 619949618038
SHOC2Noonan syndrome-like with loose anagen hair 1, 607721602775
SHOXShort stature, idiopathic familial, 300582; Leri-Weill dyschondrosteosis, 127300, Pseudoautosomal dominant; Langer mesomelic dysplasia, 249700, Pseudoautosomal recessive312865
SHOXShort stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700, Pseudoautosomal recessive; Leri-Weill dyschondrosteosis, 127300, Pseudoautosomal dominant400020
SHPK[Sedoheptulokinase deficiency], 617213605060
SHQ1Neurodevelopmental disorder with dystonia and seizures, 619922; ?Dystonia 35, childhood-onset, 619921613663
SISucrase-isomaltase deficiency, congenital, 222900609845
SIAE{Autoimmune disease, susceptibility to, 6}, 613551610079
SIAH1Buratti-Harel syndrome, 619314602212
SIGMAR1?Neuronopathy, distal hereditary motor 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373601978
SIK1Developmental and epileptic encephalopathy 30, 616341605705
SIK3?Spondyloepimetaphyseal dysplasia, Krakow type, 618162614776
SIL1Marinesco-Sjogren syndrome, 248800608005
SIN3AWitteveen-Kolk syndrome, 613406607776
SIPA1L3?Cataract 45, 616851616655
SIX1Deafness 23, 605192; Branchiootic syndrome 3, 608389601205
SIX3Schizencephaly, 269160; Holoprosencephaly 2, 157170603714
SIX5Branchiootorenal syndrome 2, 610896600963
SIX6Optic disc anomalies with retinal and/or macular dystrophy, 212550606326
SKIShprintzen-Goldberg syndrome, 182212164780
SKIC2Trichohepatoenteric syndrome 2, 614602600478
SKIC3Trichohepatoenteric syndrome 1, 222470614589
SLC10A1Hypercholanemia, familial 2, 619256182396
SLC10A2?Bile acid malabsorption, primary, 1, 613291601295
SLC10A7Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363611459
SLC11A1{Mycobacterium tuberculosis, susceptibility to infection by}, 607948; {Buruli ulcer, susceptibility to}, 610446600266
SLC11A2Anemia, hypochromic microcytic, with iron overload 1, 206100600523
SLC12A1Bartter syndrome, type 1, 601678600839
SLC12A2Kilquist syndrome, 619080; Delpire-McNeill syndrome, 619083; Deafness 78, 619081600840
SLC12A3Gitelman syndrome, 263800600968
SLC12A5{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685; Developmental and epileptic encephalopathy 34, 616645606726
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy, 218000; Charcot-Marie-Tooth disease, axonal, type 2II, 620068604878
SLC13A3Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, 618384606411
SLC13A5Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta, 615905608305
SLC14A1[Blood group, Kidd], 111000613868
SLC16A1Hyperinsulinemic hypoglycemia, familial, 7, 610021; Erythrocyte lactate transporter defect, 245340; Monocarboxylate transporter 1 deficiency, 616095600682
SLC16A12Cataract 47, juvenile, with microcornea, 612018611910
SLC16A2Allan-Herndon-Dudley syndrome, 300523, X-linked300095
SLC17A3[Uric acid concentration, serum, QTL4], 612671; {Gout susceptibility 4}, 612671611034
SLC17A5Salla disease, 604369; Sialic acid storage disorder, infantile, 269920604322
SLC17A8Deafness 25, 605583607557
SLC17A9Porokeratosis 8, disseminated superficial actinic type, 616063612107
SLC18A2Parkinsonism-dystonia, infantile, 2, 618049193001
SLC18A3Myasthenic syndrome, congenital, 21, presynaptic, 617239600336
SLC19A1Immunodeficiency 114, folate-responsive, 620603; ?Megaloblastic anemia, folate-responsive, 601775600424
SLC19A2Thiamine-responsive megaloblastic anemia syndrome, 249270603941
SLC19A3Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type), 607483606152
SLC1A1Dicarboxylic aminoaciduria, 222730; {?Schizophrenia susceptibility 18}, 615232133550
SLC1A2Developmental and epileptic encephalopathy 41, 617105600300
SLC1A3Episodic ataxia, type 6, 612656600111
SLC1A4Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657600229
SLC20A2Basal ganglia calcification, idiopathic, 1, 213600158378
SLC22A12Hypouricemia, renal, 220150607096
SLC22A18Breast cancer, somatic, 114480; Lung cancer, somatic, 211980; Rhabdomyosarcoma, somatic, 268210602631
SLC22A4{Rheumatoid arthritis, susceptibility to}, 180300604190
SLC22A5Carnitine deficiency, systemic primary, 212140603377
SLC24A1Night blindness, congenital stationary (complete), 1D, 613830603617
SLC24A4[Skin/hair/eye pigmentation 6, blond/brown hair], 210750; Amelogenesis imperfecta, type IIA5, 615887; [Skin/hair/eye pigmentation 6, blue/green eyes], 210750609840
SLC24A5[Skin/hair/eye pigmentation 4, fair/dark skin], 113750; Albinism, oculocutaneous, type VI, 113750609802
SLC25A1Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Myasthenic syndrome, congenital, 23, presynaptic, 618197190315
SLC25A10?Mitochondrial DNA depletion syndrome 19, 618972606794
SLC25A11Pheochromocytoma/paraganglioma syndrome 6, 618464604165
SLC25A12Developmental and epileptic encephalopathy 39, 612949603667
SLC25A13Citrullinemia, type II, neonatal-onset, 605814; Citrullinemia, adult-onset type II, 603471603859
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970603861
SLC25A19Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710606521
SLC25A20Carnitine-acylcarnitine translocase deficiency, 212138613698
SLC25A21?Mitochondrial DNA depletion syndrome 18, 618811607571
SLC25A22Developmental and epileptic encephalopathy 3, 609304609302
SLC25A24Fontaine progeroid syndrome, 612289608744
SLC25A26Combined oxidative phosphorylation deficiency 28, 616794611037
SLC25A3Mitochondrial phosphate carrier deficiency, 610773600370
SLC25A32?Exercise intolerance, riboflavin-responsive, 616839138480
SLC25A36Hyperinsulinemic hypoglycemia, familial, 8, 620211616149
SLC25A38Anemia, sideroblastic, 2, pyridoxine-refractory, 205950610819
SLC25A4Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184103220
SLC25A42Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416610823
SLC25A46Neuropathy, hereditary motor and sensory, type VIB, 616505; Pontocerebellar hypoplasia, type 1E, 619303610826
SLC26A1?Hypersulfaturia, 620372; ?Nephrolithiasis, calcium oxalate, 1, 167030610130
SLC26A2Epiphyseal dysplasia, multiple, 4, 226900; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, 222600; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Achondrogenesis Ib, 600972; Atelosteogenesis, type II, 256050606718
SLC26A3Diarrhea 1, secretory chloride, congenital, 214700126650
SLC26A4Deafness 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600605646
SLC26A5?Deafness 61, 613865604943
SLC26A8Spermatogenic failure 3, 606766608480
SLC27A4Ichthyosis prematurity syndrome, 608649604194
SLC28A1[Uridine-cytidineuria], 618477606207
SLC29A3Histiocytosis-lymphadenopathy plus syndrome, 602782612373
SLC2A1Dystonia 9, 601042; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; GLUT1 deficiency syndrome 2, childhood onset, 612126138140
SLC2A10Arterial tortuosity syndrome, 208050606145
SLC2A2Fanconi-Bickel syndrome, 227810; {Diabetes mellitus, noninsulin-dependent}, 125853138160
SLC2A9{Uric acid concentration, serum, QTL 2}, 612076; Hypouricemia, renal, 2, 612076606142
SLC30A10Hypermanganesemia with dystonia 1, 613280611146
SLC30A2Zinc deficiency, transient neonatal, 608118609617
SLC30A7Ziegler-Huang syndrome, 620501611149
SLC30A8{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853611145
SLC30A9Birk-Landau-Perez syndrome, 617595604604
SLC31A1Neurodegeneration and seizures due to copper transport defect, 620306603085
SLC32A1Generalized epilepsy with febrile seizures plus, type 12, 620755; Developmental and epileptic encephalopathy 114, 620774616440
SLC33A1Spastic paraplegia 42, 612539; Huppke-Brendel syndrome, 614482603690
SLC34A1?Fanconi renotubular syndrome 2, 613388; Hypercalcemia, infantile, 2, 616963; Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286182309
SLC34A2Pulmonary alveolar microlithiasis, 265100604217
SLC34A3Hypophosphatemic rickets with hypercalciuria, 241530609826
SLC35A1Congenital disorder of glycosylation, type IIf, 603585605634
SLC35A2Congenital disorder of glycosylation, type IIm, 300896, Somatic mosaicism, X-linked dominant314375
SLC35A3Arthrogryposis, impaired intellectual development, and seizures, 615553605632
SLC35B2Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, 620269610788
SLC35C1Congenital disorder of glycosylation, type IIc, 266265605881
SLC35D1Schneckenbecken dysplasia, 269250610804
SLC36A2[Iminoglycinuria], 242600, Digenic recessive; [Hyperglycinuria], 138500608331
SLC37A4Glycogen storage disease Ib, 232220; Congenital disorder of glycosylation, type IIw, 619525; Glycogen storage disease Ic, 232240602671
SLC38A3Developmental and epileptic encephalopathy 102, 619881604437
SLC38A8Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218615585
SLC39A13Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350608735
SLC39A14?Hyperostosis cranalis interna, 144755; Hypermanganesemia with dystonia 2, 617013608736
SLC39A4Acrodermatitis enteropathica, 201100607059
SLC39A5Myopia 24, 615946608730
SLC39A7Agammaglobulinemia 9, 619693601416
SLC39A8Congenital disorder of glycosylation, type IIn, 616721608732
SLC3A1Cystinuria, 220100104614
SLC40A1Hemochromatosis, type 4, 606069604653
SLC41A1?Nephronophthisis-like nephropathy 2, 619468610801
SLC44A1Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, 618868606105
SLC44A4?Deafness 72, 617606606107
SLC45A1Intellectual developmental disorder with neuropsychiatric features, 617532605763
SLC45A2[Skin/hair/eye pigmentation 5, dark/light eyes], 227240; [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240; Albinism, oculocutaneous, type IV, 606574; [Skin/hair/eye pigmentation 5, dark/fair skin], 227240606202
SLC46A1Folate malabsorption, hereditary, 229050611672
SLC4A1[Blood group, Swann], 601550; [Blood group, Wright], 112050; Distal renal tubular acidosis 1, 179800; [Blood group, Waldner], 112010; Spherocytosis, type 4, 612653; [Blood group, Froese], 601551; Distal renal tubular acidosis 4 with hemolytic anemia, 611590; {Malaria, resistance to}, 611162; Cryohydrocytosis, 185020; Ovalocytosis, SA type, 166900; [Blood group, Diego], 110500109270
SLC4A10Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, 620746605556
SLC4A11Corneal endothelial dystrophy, 217700; Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy and perceptive deafness, 217400610206
SLC4A2?Osteopetrosis 9, 620366109280
SLC4A3Short QT syndrome 7, 620231106195
SLC4A4Proximal renal tubular acidosis-ocular anomaly syndrome, 604278603345
SLC51A?Cholestasis, progressive familial intrahepatic, 6, 619484612084
SLC51B?Bile acid malabsorption, primary, 2, 619481612085
SLC52A1Riboflavin deficiency, 615026607883
SLC52A2Brown-Vialetto-Van Laere syndrome 2, 614707607882
SLC52A3?Fazio-Londe disease, 211500; Brown-Vialetto-Van Laere syndrome 1, 211530613350
SLC5A1Glucose/galactose malabsorption, 606824182380
SLC5A2Renal glucosuria, 233100182381
SLC5A5Thyroid dyshormonogenesis 1, 274400601843
SLC5A6Sodium-dependent multivitamin transporter deficiency, 618973; Peripheral motor neuropathy, childhood-onset, biotin-responsive, 619903604024
SLC5A7Neuronopathy, distal hereditary motor 7, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143608761
SLC6A1Myoclonic-atonic epilepsy, 616421137165
SLC6A17Intellectual developmental disorder 48, 616269610299
SLC6A19Hartnup disorder, 234500608893
SLC6A2?Orthostatic intolerance, 604715163970
SLC6A3Parkinsonism-dystonia, infantile, 1, 613135; {Nicotine dependence, protection against}, 188890126455
SLC6A4{Obsessive-compulsive disorder}, 164230; {Anxiety-related personality traits}, 607834182138
SLC6A5Hyperekplexia 3, 614618604159
SLC6A6Hypotaurinemic retinal degeneration and cardiomyopathy, 145350186854
SLC6A8Cerebral creatine deficiency syndrome 1, 300352, X-linked recessive300036
SLC6A9Glycine encephalopathy with normal serum glycine, 617301601019
SLC7A14Retinitis pigmentosa 68, 615725615720
SLC7A6OSEpilepsy, progressive myoclonic, 12, 619191619192
SLC7A7Lysinuric protein intolerance, 222700603593
SLC7A9Cystinuria, 220100604144
SLC9A1Lichtenstein-Knorr syndrome, 616291107310
SLC9A3Diarrhea 8, secretory sodium, congenital, 616868182307
SLC9A6Intellectual developmental disorder, X-linked syndromic, Christianson type, 300243, X-linked300231
SLC9A7Intellectual developmental disorder, X-linked 108, 301024, X-linked recessive300368
SLC9A9{?Autism susceptibility 16}, 613410608396
SLCO1B1Hyperbilirubinemia, Rotor type, digenic, 237450, Digenic recessive604843
SLCO1B3Hyperbilirubinemia, Rotor type, digenic, 237450, Digenic recessive605495
SLCO2A1Hypertrophic osteoarthropathy, primary, 167100; PHOAR2-enteropathy syndrome, 614441601460
SLEB12{Systemic lupus erythematosus, susceptibility to, 12}, 612254612254
SLEB13{Systemic lupus erythematosus, susceptibility to, 13}, 612378612378
SLEB14{Systemic lupus erythematosus, susceptibility to, 14}, 613145613145
SLEB15{Systemic lupus erythematosus, susceptibility to, 15}, 300809300809
SLEB3{Systemic lupus erythematosus, susceptibility to, 3}, 605480605480
SLEB4{Systemic lupus erythematosus, susceptibility to, 4}, 608437608437
SLEB5{Systemic lupus erythematosus, susceptibility to, 5}, 609903609903
SLEB7{Systemic lupus erythematosus, susceptibility to, 7}, 610065610065
SLEB8{Systemic lupus erythematosus, susceptibility to, 8}, 610066610066
SLEH1{Systemic lupus erythematosus with hemolytic anemia}, 607279607279
SLEN1{Systemic lupus erythematosus with nephritis, susceptibility to, 1}, 607965607965
SLEN2{Systemic lupus erythematosus with nephritis, susceptibility to, 2}, 607966607966
SLEN3{Systemic lupus erythematosus with nephritis, susceptibility to, 3}, 607967607967
SLF2Atelis syndrome 1, 620184610348
SLFN14Bleeding disorder, platelet-type, 20, 616913614958
SLI1Specific language impairment QTL, 1, 606711, Multifactorial606711
SLI2Specific language impairment QTL, 2, 606712, Multifactorial606712
SLI3Specific language impairment QTL, 3, 607134607134
SLI4{Specific language impairment 4}, 612514612514
SLITRK1Tourette syndrome, 137580; ?Trichotillomania, 613229, Multifactorial609678
SLITRK2Intellectual developmental disorder, X-linked 111, 301107, X-linked300561
SLITRK6Deafness and myopia, 221200609681
SLSN3Senior-Loken syndrome 3, 606995606995
SLURP1Meleda disease, 248300606119
SLX4Fanconi anemia, complementation group P, 613951613278
SM1{Schistosoma mansoni infection, susceptibility/resistance to}, 181460181460
SM2{Hepatic fibrosis susceptibility due to Schistosoma mansoni infection}, 604201604201
SMAD2Loeys-Dietz syndrome 6, 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, 619657601366
SMAD3Loeys-Dietz syndrome 3, 613795603109
SMAD4Pancreatic cancer, somatic, 260350; Myhre syndrome, 139210; Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050600993
SMAD6Aortic valve disease 2, 614823; {Radioulnar synostosis, nonsyndromic}, 179300; {Craniosynostosis 7, susceptibility to}, 617439602931
SMAD7{Colorectal cancer, susceptibility to, 3}, 612229602932
SMAD9Pulmonary hypertension, primary, 2, 615342603295
SMARNeuronopathy, distal hereditary motor 3, 607088607088
SMARCA2Nicolaides-Baraitser syndrome, 601358; Blepharophimosis-impaired intellectual development syndrome, 619293600014
SMARCA4Coffin-Siris syndrome 4, 614609; {Rhabdoid tumor predisposition syndrome 2}, 613325; ?Otosclerosis 12, 620792603254
SMARCAD1Basan syndrome, 129200; Huriez syndrome, 181600; Adermatoglyphia, 136000612761
SMARCAL1Schimke immunoosseous dysplasia, 242900606622
SMARCB1Rhabdoid tumors, somatic, 609322; {Schwannomatosis-1, susceptibility to}, 162091; Coffin-Siris syndrome 3, 614608; {Rhabdoid tumor predisposition syndrome 1}, 609322601607
SMARCC1{Hydrocephalus, congenital, 5, susceptibility to}, 620241601732
SMARCC2Coffin-Siris syndrome 8, 618362601734
SMARCD1Coffin-Siris syndrome 11, 618779601735
SMARCD2Specific granule deficiency 2, 617475601736
SMARCE1{Meningioma, familial, susceptibility to}, 607174; Coffin-Siris syndrome 5, 616938603111
SMC1ACornelia de Lange syndrome 2, 300590, X-linked dominant; Developmental and epileptic encephalopathy 85, with or without midline brain defects, 301044, X-linked dominant300040
SMC3Cornelia de Lange syndrome 3, 610759606062
SMC5Atelis syndrome 2, 620185609386
SMCHD1Facioscapulohumeral muscular dystrophy 2, digenic, 158901, Digenic dominant; Bosma arhinia microphthalmia syndrome, 603457614982
SMG8Alzahrani-Kuwahara syndrome, 619268613175
SMG9Heart and brain malformation syndrome, 616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, 619995613176
SMIM1[Blood group, Vel system], 615264615242
SMN1Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-4, 271150; Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-1, 253300600354
SMN2{Spinal muscular atrophy, type III, modifier of}, 253400601627
SMOPallister-Hall-like syndrome, 241800; Basal cell carcinoma, somatic, 605462; Curry-Jones syndrome, somatic mosaic, 601707601500
SMOC1Microphthalmia with limb anomalies, 206920608488
SMOC2Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400607223
SMPD1Niemann-Pick disease, type B, 607616; Niemann-Pick disease, type A, 257200607608
SMPD4Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, 618622610457
SMPXMyopathy, distal, 7, adult-onset, X-linked, 301075, X-linked recessive; Deafness, X-linked 4, 300066, X-linked dominant300226
SMSIntellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, 309583, X-linked recessive300105
SNAP25?Myasthenic syndrome, congenital, 18, 616330600322
SNAP29Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528604202
SNAPC4Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, 620515602777
SNCADementia, Lewy body, 127750; Parkinson disease 1, 168601; Parkinson disease 4, 605543163890
SNCBDementia, Lewy body, 127750602569
SNF8Developmental and epileptic encephalopathy 115, 620783; Neurodevelopmental disorder plus optic atrophy, 620784610904
SNIP1Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures, 614501608241
SNORA31{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}, 619396619378
SNORD118Leukoencephalopathy, brain calcifications, and cysts, 614561616663
SNRNP200Retinitis pigmentosa 33, 610359601664
SNRPBCerebrocostomandibular syndrome, 117650182282
SNRPEHypotrichosis 11, 615059128260
SNTA1Long QT syndrome 12, 612955601017
SNUPNMuscular dystrophy, limb-girdle 29, 620793607902
SNX10Osteopetrosis 8, 615085614780
SNX14Spinocerebellar ataxia 20, 616354616105
SOBP?Impaired intellectual development, anterior maxillary protrusion, and strabismus, 613671613667
SOCS1Autoinflammatory syndrome, familial, with or without immunodeficiency, 619375603597
SOD1Spastic tetraplegia and axial hypotonia, progressive, 618598; Amyotrophic lateral sclerosis 1, 105400147450
SOD2{Microvascular complications of diabetes 6}, 612634147460
SOD3[Superoxide dismutase, elevated extracellular]185490
SOHLH1Ovarian dysgenesis 5, 617690; Spermatogenic failure 32, 618115610224
SONZTTK syndrome, 617140182465
SORDNeuronopathy, distal hereditary motor 8, 618912182500
SORT1[Low density lipoprotein cholesterol level QTL6], 613589602458
SOS1Noonan syndrome 4, 610733; ?Fibromatosis, gingival, 1, 135300182530
SOS2Noonan syndrome 9, 616559601247
SOSTSclerosteosis 1, 269500; Craniodiaphyseal dysplasia, 122860605740
SOX10Waardenburg syndrome, type 4C, 613266; PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584602229
SOX11Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, 615866600898
SOX17Vesicoureteral reflux 3, 613674610928
SOX18Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940601618
SOX2Optic nerve hypoplasia and abnormalities of the central nervous system, 206900; Microphthalmia, syndromic 3, 206900184429
SOX3Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000, X-linked313430
SOX4Coffin-Siris syndrome 10, 618506184430
SOX5Lamb-Shaffer syndrome, 616803604975
SOX6Tolchin-Le Caignec syndrome, 618971607257
SOX9Campomelic dysplasia with autosomal sex reversal, 114290; Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290608160
SP110{Mycobacterium tuberculosis, susceptibility to}, 607948; Hepatic venoocclusive disease with immunodeficiency, 235550604457
SP6Amelogenesis imperfecta, type IK, 620104608613
SP7Osteogenesis imperfecta, type XII, 613849606633
SPACA1?Spermatogenic failure 85, 620490612739
SPAG1Ciliary dyskinesia, primary, 28, 615505603395
SPAG17?Spermatogenic failure 55, 619380616554
SPARCOsteogenesis imperfecta, type XVII, 616507182120
SPARTTroyer syndrome, 275900607111
SPASTSpastic paraplegia 4, 182601604277
SPATA16?Spermatogenic failure 6, 102530609856
SPATA7Leber congenital amaurosis 3, 604232; Retinitis pigmentosa 94, variable age at onset, 604232609868
SPD3Synpolydactyly 3, 610234610234
SPDA2{Spondyloarthropathy, susceptibility to, 2}, 183840183840
SPDA3{Spondyloarthropathy, susceptibility to, 3}, 613238613238
SPDTSpondyloepiphyseal dysplasia tarda, 184100184100
SPECC1LTeebi hypertelorism syndrome 1, 145420; ?Facial clefting, oblique, 1, 600251614140
SPEF2Spermatogenic failure 43, 618751610172
SPEGCentronuclear myopathy 5, 615959615950
SPENRadio-Tartaglia syndrome, 619312613484
SPG11Amyotrophic lateral sclerosis 5, juvenile, 602099; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Spastic paraplegia 11, 604360610844
SPG14Spastic paraplegia 14, 605229605229
SPG16Spastic paraplegia 16, X-linked, complicated, 300266, X-linked recessive300266
SPG19Spastic paraplegia 19, 607152607152
SPG21Mast syndrome, 248900608181
SPG24Spastic paraplegia 24, 607584607584
SPG25Spastic paraplegia 25, 608220608220
SPG27Spastic paraplegia 27, 609041609041
SPG29Spastic paraplegia 29, 609727609727
SPG32Spastic paraplegia 32, 611252611252
SPG34Spastic paraplegia 34, X-linked, 300750, X-linked recessive300750
SPG36Spastic paraplegia 36, 613096613096
SPG37Spastic paraplegia 37, 611945611945
SPG38Spastic paraplegia 38, 612335612335
SPG41?Spastic paraplegia 41, 613364613364
SPG7Spastic paraplegia 7, 607259602783
SPI1Agammaglobulinemia 10, 619707165170
SPIDROvarian dysgenesis 9, 619665615384
SPIN4?Lui-Jee-Baron syndrome, 301114, X-linked301113
SPINK1Tropical calcific pancreatitis, 608189; Pancreatitis, hereditary, 167800; {Fibrocalculous pancreatic diabetes, susceptibility to}, 608189167790
SPINK2?Spermatogenic failure 29, 618091605753
SPINK5Netherton syndrome, 256500605010
SPINT2Diarrhea 3, secretory sodium, congenital, syndromic, 270420605124
SPNS2?Deafness 115, 618457612584
SPOPNabais Sa-de Vries syndrome, type 1, 618828; Nabais Sa-de Vries syndrome, type 2, 618829602650
SPPL2AImmunodeficiency 86, mycobacteriosis, 619549608238
SPRDystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, ?Autosomal dominant182125
SPRED1Legius syndrome, 611431609291
SPRED2Noonan syndrome 14, 619745609292
SPRTNRuijs-Aalfs syndrome, 616200616086
SPRY2{?IgA nephropathy, susceptibility to, 3}, 616818602466
SPRY4Hypogonadotropic hypogonadism 17 with or without anosmia, 615266607984
SPTA1Spherocytosis, type 3, 270970; Elliptocytosis-2, 130600; Pyropoikilocytosis, 266140182860
SPTAN1Developmental delay with or without epilepsy, 620540; Developmental and epileptic encephalopathy 5, 613477; Spastic paraplegia 91, with or without cerebellar ataxia, 620538; Neuronopathy, distal hereditary motor 11, 620528182810
SPTBAnemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948; Spherocytosis, type 2, 616649182870
SPTBN1Developmental delay, impaired speech, and behavioral abnormalities, 619475182790
SPTBN2Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia 14, 615386604985
SPTBN4Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519606214
SPTLC1Amyotrophic lateral sclerosis 27, juvenile, 620285; Neuropathy, hereditary sensory and autonomic, type IA, 162400605712
SPTLC2Neuropathy, hereditary sensory and autonomic, type IC, 613640605713
SPTSSASpastic paraplegia 90A, 620416; ?Spastic paraplegia 90B, 620417613540
SQORSulfide:quinone oxidoreductase deficiency, 619221617658
SQSTM1Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437; Myopathy, distal, with rimmed vacuoles, 617158; Paget disease of bone 3, 167250601530
SQTL1{Smoking as a quantitative trait locus 1}, 611003611003
SQTL2{Smoking as a quantitative trait locus 2}, 611004611004
SRC?Thrombocytopenia 6, 616937; Colon cancer, advanced, somatic, 114500190090
SRCAPDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, 619595; Floating-Harbor syndrome, 136140611421
SRD5A2Pseudovaginal perineoscrotal hypospadias, 264600607306
SRD5A3Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379611715
SREBF1Ichthyosis, follicular, with atrichia and photophobia syndrome 2, 619016; Mucoepithelial dysplasia, hereditary, 158310184756
SRGAP1{Thyroid cancer, nonmedullary, 2}, 188470, Somatic mutation606523
SRP54Neutropenia, severe congenital, 8, 618752604857
SRP68?Neutropenia, severe congenital, 10, 620534604858
SRP72Bone marrow failure syndrome 1, 614675602122
SRPX2?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, 300643300642
SRRM2Intellectual developmental disorder 72, 620439606032
SRSF1Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, 620489600812
SRY46XY sex reversal 1, 400044, Y-linked; 46XX sex reversal 1, 400045, X-linked dominant480000
SS18Sarcoma, synovial600192
SS3{Sarcoidosis, susceptibility to, 3}, 612388612388
SSBP1Optic atrophy 13 with retinal and foveal abnormalities, 165510600439
SSD{Speech-sound disorder}, 608445608445
SSR4Congenital disorder of glycosylation, type Iy, 300934, X-linked recessive300090
SSX1Spermatogenic failure, X-linked, 5, 301099, X-linked312820
SSX2?Sarcoma, synovial, 300813300192
ST14Ichthyosis, congenital 11, 602400606797
ST3Cervical carcinoma, 191181191181
ST3GAL3Developmental and epileptic encephalopathy 15, 615006; Intellectual developmental disorder 12, 611090606494
ST3GAL5Salt and pepper developmental regression syndrome, 609056604402
STAB1[Hyperferritinemia], 620729608560
STAC3Congenital myopathy 13, 255995615521
STAG1Intellectual developmental disorder 47, 617635604358
STAG2Holoprosencephaly 13, X-linked, 301043, X-linked dominant, X-linked recessive; Mullegama-Klein-Martinez syndrome, 301022, X-linked300826
STAG3Spermatogenic failure 61, 619672; Premature ovarian failure 8, 615723608489
STAMBPMicrocephaly-capillary malformation syndrome, 614261606247
STARLipoid adrenal hyperplasia, 201710600617
STARD7Epilepsy, familial adult myoclonic, 2, 607876616712
STAT1Immunodeficiency 31C, chronic mucocutaneous candidiasis, 614162; Immunodeficiency 31A, mycobacteriosis, 614892; Immunodeficiency 31B, mycobacterial and viral infections, 613796600555
STAT2Pseudo-TORCH syndrome 3, 618886; Immunodeficiency 44, 616636600556
STAT3Hyper-IgE syndrome 1, with recurrent infections, 147060; Autoimmune disease, multisystem, infantile-onset, 1, 615952102582
STAT4Disabling pansclerotic morphea of childhood, 620443; {Systemic lupus erythematosus, susceptibility to, 11}, 612253600558
STAT5BGrowth hormone insensitivity with immune dysregulation 1, 245590; Growth hormone insensitivity with immune dysregulation 2, 618985; Leukemia, acute promyelocytic, somatic, 102578604260
STAT6Hyper-IgE syndrome 6, with recurrent infections, 620532601512
STBMS1{Strabismus, susceptibility to, 1}, 185100185100
STEAP3?Anemia, hypochromic microcytic, with iron overload 2, 615234609671
STEEP1?Intellectual developmental disorder, X-linked 107, 301013, X-linked301012
STHAG5Tooth agenesis, selective, 5, 610926610926
STILMicrocephaly 7, primary, 612703181590
STIM1Myopathy, tubular aggregate, 1, 160565; Stormorken syndrome, 185070; Immunodeficiency 10, 612783605921
STING1STING-associated vasculopathy, infantile-onset, 615934612374
STK11Melanoma, malignant, somatic, 155600; Pancreatic cancer, somatic, 260350; Peutz-Jeghers syndrome, 175200; Testicular tumor, somatic, 273300602216
STK33?Spermatogenic failure 93, 620849607670
STK36?Ciliary dyskinesia, primary, 46, 619436607652
STK4T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868604965
STN1Cerebroretinal microangiopathy with calcifications and cysts 2, 617341613128
STOX1Preeclampsia/eclampsia 4, 609404609397
STQTL10{Stature QTL 10}, 612221612221
STQTL11{Stature QTL 11}, 612223612223
STQTL12{Stature QTL 12}, 612224612224
STQTL13{Stature QTL 13}, 612226612226
STQTL14{Stature QTL 14}, 612228612228
STQTL15{Stature QTL 15}, 612578612578
STQTL16{Stature QTL 16}, 612579612579
STQTL17{Stature QTL 17}, 612737612737
STQTL18{Stature QTL 18}, 612892612892
STQTL19{Stature QTL 19}, 612893612893
STQTL2{Stature QTL 2}, 606256606256
STQTL20{Stature QTL 20}, 612894612894
STQTL21{Stature QTL 21}, 613440613440
STQTL22{Stature QTL 22}, 613547613547
STQTL23{Stature QTL 23}, 613548613548
STQTL24{Stature QTL 24}, 613549613549
STQTL3{Stature QTL 3}, 606257606257
STQTL4{Stature QTL 4}, 606258606258
STQTL5{Stature QTL 5}, 608982608982
STQTL6{Stature QTL 6}, 300591300591
STQTL7{Stature QTL 7}, 609822609822
STQTL8{Stature QTL 8}, 610114610114
STRA6Microphthalmia, syndromic 9, 601186; Microphthalmia, isolated, with coloboma 8, 601186610745
STRADAPolyhydramnios, megalencephaly, and symptomatic epilepsy, 611087608626
STRCDeafness 16, 603720606440
STRTSHypothyroidism, congenital, nongoitrous, 3, 609893620900
STSIchthyosis, X-linked, 308100, X-linked recessive300747
STT3ACongenital disorder of glycosylation, type Iw, 619714; Congenital disorder of glycosylation, type Iw, 615596601134
STT3BCongenital disorder of glycosylation, type Ix, 615597608605
STUB1Spinocerebellar ataxia 48, 618093; Spinocerebellar ataxia 16, 615768607207
STUT2Stuttering, familial persistent, 2, 609261609261
STUT3Stuttering, familial persistent, 3, 614655614655
STUT4Stuttering, familial persistent, 4, 614668614668
STX11Hemophagocytic lymphohistiocytosis, familial, 4, 603552605014
STX16Pseudohypoparathyroidism Ib, 603233603666
STX1BGeneralized epilepsy with febrile seizures plus, type 9, 616172601485
STX3Retinal dystrophy and microvillus inclusion disease, 619446; Diarrhea 12, with microvillus atrophy, 619445600876
STX4?Deafness 123, 620745186591
STX5?Congenital disorder of glycosylation, type IIaa, 620454603189
STXBP1Developmental and epileptic encephalopathy 4, 612164602926
STXBP2Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease, 613101601717
SUCLA2Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073603921
SUCLG1Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400611224
SUFU{Meningioma, familial, susceptibility to}, 607174; Joubert syndrome 32, 617757; Basal cell nevus syndrome 2, 620343; {Medulloblastoma}, 155255, Somatic mutation607035
SUGCTGlutaric aciduria III, 231690609187
SULT2B1Ichthyosis, congenital 14, 617571604125
SUMF1Multiple sulfatase deficiency, 272200607939
SUMO1?Orofacial cleft 10, 613705, Isolated cases601912
SUMO4{Diabetes mellitus, insulin-dependent, 5}, 600320608829
SUN5Spermatogenic failure 16, 617187613942
SUOXSulfite oxidase deficiency, 272300606887
SUPT16HNeurodevelopmental disorder with dysmorphic facies and thin corpus callosum, 619480605012
SURF1Charcot-Marie-Tooth disease, type 4K, 616684; Mitochondrial complex IV deficiency, nuclear type 1, 220110185620
SUZ12Imagawa-Matsumoto syndrome, 618786606245
SV2ADevelopmental and epileptic encephalopathy 113, 620772185860
SVBPNeurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569617853
SVILMyofibrillar myopathy 10, 619040604126
SXGQTL1[Sex hormone-binding globulin circulating level QTL 1], 613498613498
SXI2X inactivation, familial skewed, 2, 300179300179
SYCE1?Spermatogenic failure 15, 616950; ?Premature ovarian failure 12, 616947611486
SYCP2Spermatogenic failure 1, 258150604105
SYCP2LPremature ovarian failure 24, 620840616799
SYCP3Pregnancy loss, recurrent, 4, 270960; Spermatogenic failure 4, 270960604759
SYKImmunodeficiency 82 with systemic inflammation, 619381600085
SYN1Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, 300491, X-linked; Intellectual developmental disorder, X-linked 50, 300115, X-linked313440
SYN2{Schizophrenia, susceptibility to}, 181500600755
SYNE1Arthrogryposis multiplex congenita 3, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, 612998; Spinocerebellar ataxia 8, 610743608441
SYNE2Emery-Dreifuss muscular dystrophy 5, 612999608442
SYNE4Deafness 76, 615540615535
SYNGAP1Intellectual developmental disorder 5, 612621603384
SYNJ1Parkinson disease 20, early-onset, 615530; Developmental and epileptic encephalopathy 53, 617389604297
SYNSTHSynesthesia, 612759612759
SYPIntellectual developmental disorder, X-linked 96, 300802, X-linked recessive313475
SYT1Baker-Gordon syndrome, 618218185605
SYT14?Spinocerebellar ataxia 11, 614229610949
SYT2Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, 616040; Myasthenic syndrome, congenital, 7B, presynaptic, 619461600104
SZT2Developmental and epileptic encephalopathy 18, 615476615463
TAB2Congenital heart defects, nonsyndromic, 2, 614980605101
TAC3Hypogonadotropic hypogonadism 10 with or without anosmia, 614839162330
TACO1Mitochondrial complex IV deficiency, nuclear type 8, 619052612958
TACR3Hypogonadotropic hypogonadism 11 with or without anosmia, 614840162332
TACSTD2Corneal dystrophy, gelatinous drop-like, 204870137290
TAF1Intellectual developmental disorder, X-linked syndromic 33, 300966, X-linked recessive; Dystonia-Parkinsonism, X-linked, 314250, X-linked recessive313650
TAF13Intellectual developmental disorder 60, 617432600774
TAF15Chondrosarcoma, extraskeletal myxoid, 612237601574
TAF2Intellectual developmental disorder 40, 615599604912
TAF4Intellectual developmental disorder 73, 620450601796
TAF4B?Spermatogenic failure 13, 615841601689
TAF6Alazami-Yuan syndrome, 617126602955
TAF8Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, 619972609514
TAFAZZINBarth syndrome, 302060, X-linked recessive300394
TAL1Leukemia, T-cell acute lymphocytic, somatic, 613065187040
TAL2Leukemia, T-cell acute lymphocytic, somatic, 613065186855
TALDO1Transaldolase deficiency, 606003602063
TAMLeukemia, transient, of Down syndrome, 159595159595
TAMM41Combined oxidative phosphorylation deficiency 56, 620139614948
TANC2Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906615047
TANGO2Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878616830
TAOK1Developmental delay with or without intellectual impairment or behavioral abnormalities, 619575610266
TAP1MHC class I deficiency 1, 604571170260
TAP2MHC class I deficiency 2, 620813170261
TAPBP?MHC class I deficiency 3, 620814601962
TAPT1Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897612758
TAPVR1Total anomalous pulmonary venous return, 106700106700
TARDBPFrontotemporal lobar degeneration, TARDBP-related, 612069; Amyotrophic lateral sclerosis 10, with or without FTD, 612069605078
TARS1Trichothiodystrophy 7, nonphotosensitive, 618546187790
TARS2Combined oxidative phosphorylation deficiency 21, 615918612805
TAS2R16{Alcohol dependence, susceptibility to}, 103780, Multifactorial; [Beta-glycopyranoside tasting], 617956604867
TAS2R38[Phenylthiocarbamide tasting], 171200607751
TASP1Suleiman-El-Hattab syndrome, 618950608270
TATTyrosinemia, type II, 276600613018
TBC1D20Warburg micro syndrome 4, 615663611663
TBC1D23Pontocerebellar hypoplasia, type 11, 617695617687
TBC1D24Deafness 86, 614617; Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021; Deafness 65, 616044; Developmental and epileptic encephalopathy 16, 615338; DOORS syndrome, 220500613577
TBC1D2BNeurodevelopmental disorder with seizures and gingival overgrowth, 619323619152
TBC1D4{Diabetes mellitus, noninsulin-dependent, 5}, 616087612465
TBC1D7Macrocephaly/megalencephaly syndrome, 248000612655
TBC1D8BNephrotic syndrome, type 20, 301028, X-linked301027
TBCDEncephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193604649
TBCEKenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207604934
TBCKHypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900616899
TBK1{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439; Autoinflammation with arthritis and vasculitis, 620880604834
TBL1XHypothyroidism, congenital, nongoitrous, 8, 301033, X-linked300196
TBL1XR1Intellectual developmental disorder 41, 616944; Pierpont syndrome, 602342608628
TBL1Y?Deafness, Y-linked 2, 400047, Y-linked400033
TBPSpinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600, Multifactorial600075
TBR1Intellectual developmental disorder with autism and speech delay, 606053604616
TBX1Tetralogy of Fallot, 187500; DiGeorge syndrome, 188400; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430602054
TBX15Cousin syndrome, 260660604127
TBX18Congenital anomalies of kidney and urinary tract 2, 143400604613
TBX19Adrenocorticotropic hormone deficiency, 201400604614
TBX2Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223600747
TBX20Atrial septal defect 4, 611363606061
TBX21Asthma and nasal polyps, 208550; ?Immunodeficiency 88, 619630; {Asthma, aspirin-induced, susceptibility to}, 208550604895
TBX22Cleft palate with ankyloglossia, 303400, X-linked; ?Abruzzo-Erickson syndrome, 302905, X-linked300307
TBX3Ulnar-mammary syndrome, 181450601621
TBX4Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, 601360601719
TBX5Holt-Oram syndrome, 142900601620
TBX6Spondylocostal dysostosis 5, 122600602427
TBXA2R{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009188070
TBXAS1Ghosal hematodiaphyseal syndrome, 231095274180
TBXTSacral agenesis with vertebral anomalies, 615709; {Neural tube defects, susceptibility to}, 182940601397
TCAPCardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle 7, 601954604488
TCEAL1Hijazi-Reis syndrome, 301094, X-linked dominant300237
TCF12Craniosynostosis 3, 615314; Hypogonadotropic hypogonadism 26 with or without anosmia, 619718600480
TCF20Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430603107
TCF3Agammaglobulinemia 8B, 619824; Agammaglobulinemia 8A, 616941147141
TCF4Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267602272
TCF7L2{Diabetes mellitus, type 2, susceptibility to}, 125853602228
TCHH?Uncombable hair syndrome 3, 617252190370
TCIRG1Osteopetrosis 1, 259700604592
TCL1ALeukemia/lymphoma, T-cell, 186960186960
TCL1BLeukemia/lymphoma, T-cell, 603769603769
TCN2Transcobalamin II deficiency, 275350613441
TCOThyroid carcinoma, nonmedullary, with cell oxyphilia, 603386603386
TCOF1Treacher Collins syndrome 1, 154500606847
TCTN1Joubert syndrome 13, 614173609863
TCTN2Joubert syndrome 24, 616654; ?Meckel syndrome 8, 613885613846
TCTN3Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860613847
TDO2[?Hypertryptophanemia], 600627191070
TDP1?Spinocerebellar ataxia, with axonal neuropathy 1, 607250607198
TDP2Spinocerebellar ataxia 23, 616949605764
TDRD7Cataract 36, 613887611258
TDRD9?Spermatogenic failure 30, 618110617963
TEAD1Sveinsson chorioretinal atrophy, 108985189967
TECTransient erythroblastopenia of childhood, 227050227050
TECPR2Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, 615031615000
TECRIntellectual developmental disorder 14, 614020610057
TECRLVentricular tachycardia, catecholaminergic polymorphic, 3, 614021617242
TECTADeafness 8/12, 601543; Deafness 21, 603629602574
TEFMCombined oxidative phosphorylation deficiency 58, 620451616422
TEKVenous malformations, multiple cutaneous and mucosal, 600195; Glaucoma 3, primary congenital, E, 617272600221
TEKT3Spermatogenic failure 81, 620277612683
TELAB1Telangiectasia, hereditary benign, 187260187260
TELM[Telomere length, mean leukocyte], 609113609113
TELO2You-Hoover-Fong syndrome, 616954611140
TENM3Microphthalmia, syndromic 15, 615145; ?Microphthalmia/coloboma 9, 615145610083
TENM4Essential tremor, hereditary, 5, 616736610084
TENT5AOsteogenesis imperfecta, type XVIII, 617952611357
TERB1Spermatogenic failure 60, 619646617332
TERB2?Spermatogenic failure 59, 619645617131
TERCPulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, 614743; Dyskeratosis congenita 1, 127550602322
TERTDyskeratosis congenita 2, 613989; Dyskeratosis congenita 4, 613989; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, 614742; {Melanoma, cutaneous malignant, 9}, 615134; {Leukemia, acute myeloid}, 601626, Somatic mutation187270
TET2Myelodysplastic syndrome, somatic, 614286; Immunodeficiency 75, 619126612839
TET3Beck-Fahrner syndrome, 618798613555
TEX11Spermatogenic failure, X-linked 2, 309120, X-linked recessive300311
TEX14Spermatogenic failure 23, 617707605792
TEX15Spermatogenic failure 25, 617960605795
TFAtransferrinemia, 209300190000
TFAM?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156600438
TFAP2ABranchiooculofacial syndrome, 113620107580
TFAP2BPatent ductus arteriosus 2, 617035; Char syndrome, 169100601601
TFE3Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies, 301066, X-linked; Renal cell carcinoma, papillary, 1, 300854314310
TFG?Spastic paraplegia 57, 615658; Hereditary motor and sensory neuropathy, Okinawa type, 604484602498
TFQTL2[Transferrin serum level quantitative trait locus 2], 614193614193
TFR2Hemochromatosis, type 3, 604250604720
TFRCImmunodeficiency 46, 616740190010
TG{Autoimmune thyroid disease, susceptibility to, 3}, 608175; Thyroid dyshormonogenesis 3, 274700188450
TGCT1Testicular germ cell tumor, 300228300228
TGDSCatel-Manzke syndrome, 616145616146
TGFB1Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213; Camurati-Engelmann disease, 131300; {Cystic fibrosis lung disease, modifier of}, 219700190180
TGFB2Loeys-Dietz syndrome 4, 614816190220
TGFB3Arrhythmogenic right ventricular dysplasia 1, 107970; Loeys-Dietz syndrome 5, 615582190230
TGFBICorneal dystrophy, Avellino type, 607541; Corneal dystrophy, Reis-Bucklers type, 608470; Corneal dystrophy, Thiel-Behnke type, 602082; Corneal dystrophy, Groenouw type I, 121900; Corneal dystrophy, epithelial basement membrane, 121820; Corneal dystrophy, lattice type I, 122200; Corneal dystrophy, lattice type IIIA, 608471601692
TGFBR1{Multiple self-healing squamous epithelioma, susceptibility to}, 132800; Loeys-Dietz syndrome 1, 609192190181
TGFBR2Loeys-Dietz syndrome 2, 610168; Colorectal cancer, hereditary nonpolyposis, type 6, 614331; Esophageal cancer, somatic, 133239190182
TGIF1Holoprosencephaly 4, 142946602630
TGM1Ichthyosis, congenital 1, 242300190195
TGM3?Uncombable hair syndrome 2, 617251600238
TGM5Peeling skin syndrome 2, 609796603805
TGM6Spinocerebellar ataxia 35, 613908613900
THSegawa syndrome, recessive, 605407191290
THAP1Dystonia 6, torsion, 602629609520
THAP11?Methylmalonic aciduria and homocystinuria, cblL type, 620940; Spinocerebellar ataxia 51, 620947609119
THASThoracoabdominal syndrome, 313850, X-linked313850
THBDThrombophilia 12 due to thrombomodulin defect, 614486; {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926188040
THBS2?Ehlers-Danlos syndrome, classic-like, 3, 620865; {Lumbar disc herniation, susceptibility to}, 603932188061
THG1LSpinocerebellar ataxia 28, 618800618802
THMA?Tibial hemimelia, 275220275220
THOC1?Deafness 86, 620280606930
THOC2Intellectual developmental disorder, X-linked 12, 300957, X-linked recessive300395
THOC6Beaulieu-Boycott-Innes syndrome, 613680615403
THPH9?Thrombophilia 9 due to decreased release of tissue plasminogen, 612348612348
THPOThrombocythemia 1, 187950; Thrombocytopenia 9, 620478; Amegakaryocytic thrombocytopenia, congenital, 2, 620481600044
THRAHypothyroidism, congenital, nongoitrous, 6, 614450190120
THRBThyroid hormone resistance, 274300; Thyroid hormone resistance, 188570; Thyroid hormone resistance, selective pituitary, 145650190160
THSD1?Aneurysm, intracranial berry, 12, 618734; Lymphatic malformation 13, 620244616821
THSD4Aortic aneurysm, familial thoracic 12, 619825614476
THUMPD1Neurodevelopmental disorder with speech delay and variable ocular anomalies, 619989616662
TIA1Welander distal myopathy, 604454; Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, 619133603518
TIAM1Neurodevelopmental disorder with language delay and seizures, 619908600687
TICAM1{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850607601
TIE1Lymphatic malformation 11, 619401600222
TIMELESS?Advance sleep phase syndrome, familial, 4, 620015603887
TIMM22?Combined oxidative phosphorylation deficiency 43, 618851607251
TIMM503-methylglutaconic aciduria, type IX, 617698607381
TIMM8AMohr-Tranebjaerg syndrome, 304700, X-linked recessive300356
TIMMDC1Mitochondrial complex I deficiency, nuclear type 31, 618251615534
TIMP3Sorsby fundus dystrophy, 136900188826
TINF2Dyskeratosis congenita 3, 613990; Revesz syndrome, 268130604319
TIRAP{Malaria, protection against}, 611162; {Tuberculosis, protection against}, 607948; {Bacteremia, protection against}, 614382606252
TJP2Hypercholanemia, familial 1, 607748; Cholestasis, progressive familial intrahepatic 4, 615878607709
TK2Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 617069188250
TKCRGoeminne TKCR syndrome, 314300, X-linked314300
TKFCTriokinase and FMN cyclase deficiency syndrome, 618805615844
TKTShort stature, developmental delay, and congenital heart defects, 617044606781
TLCD3BCone-rod dystrophy 22, 619531615175
TLE6Oocyte/zygote/embryo maturation arrest 15, 616814612399
TLK2Intellectual developmental disorder 57, 618050608439
TLL1Atrial septal defect 6, 613087606742
TLR1{Leprosy, susceptibility to, 5}, 613223; {Leprosy, protection against}, 613223601194
TLR2{Colorectal cancer, susceptibility to}, 114500, Somatic mutation; {Leprosy, susceptibility to}, 246300; {Mycobacterium tuberculosis, susceptibility to}, 607948603028
TLR3{HIV1 infection, resistance to}, 609423; {Immunodeficiency 83, susceptibility to viral infections}, 613002603029
TLR5{Melioidosis, susceptibility to}, 615557; {Systemic lupus erythematosus, susceptibility to, 1}, 601744; {Systemic lupus erythematosus, resistance to}, 601744; {Legionnaire disease, susceptibility to}, 608556603031
TLR7Immunodeficiency 74, COVID19-related, X-linked, 301051, X-linked recessive; Systemic lupus erythematosus 17, 301080, X-linked dominant300365
TLR8Immunodeficiency 98 with autoinflammation, X-linked, 301078, X-linked, Somatic mosaicism300366
TM4SF20{Specific language impairment 5}, 615432615404
TMC1Deafness 36, 606705; Deafness 7, 600974606706
TMC6{Epidermodysplasia verruciformis, susceptibility to, 1}, 226400605828
TMC8{Epidermodysplasia verruciformis, susceptibility to, 2}, 618231605829
TMCO1Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, 213980614123
TMEM106BLeukodystrophy, hypomyelinating, 16, 617964613413
TMEM107Orofaciodigital syndrome XVI, 617563; Meckel syndrome 13, 617562; ?Joubert syndrome 29, 617562616183
TMEM126AOptic atrophy 7, 612989612988
TMEM126BMitochondrial complex I deficiency, nuclear type 29, 618250615533
TMEM127{Pheochromocytoma, susceptibility to}, 171300613403
TMEM132EDeafness 99, 618481616178
TMEM138Joubert syndrome 16, 614465614459
TMEM147Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, 620075613585
TMEM151AEpisodic kinesigenic dyskinesia 3, 620245620108
TMEM163Leukodystrophy, hypomyelinating, 25, 620243618978
TMEM165Congenital disorder of glycosylation, type IIk, 614727614726
TMEM199Congenital disorder of glycosylation, type IIp, 616829616815
TMEM216Joubert syndrome 2, 608091; Meckel syndrome 2, 603194613277
TMEM218Joubert syndrome 39, 619562619285
TMEM222Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, 619470619469
TMEM231Joubert syndrome 20, 614970; Meckel syndrome 11, 615397614949
TMEM237Joubert syndrome 14, 614424614423
TMEM240Spinocerebellar ataxia 21, 607454616101
TMEM260Structural heart defects and renal anomalies syndrome, 617478617449
TMEM38BOsteogenesis imperfecta, type XIV, 615066611236
TMEM43Arrhythmogenic right ventricular dysplasia 5, 604400; Auditory neuropathy 3, 619832; Emery-Dreifuss muscular dystrophy 7, AD, 614302612048
TMEM53Craniotubular dysplasia, Ikegawa type, 619727619722
TMEM63ALeukodystrophy, hypomyelinating, 19, transient infantile, 618688618685
TMEM63CSpastic paraplegia 87, 619966619953
TMEM67Nephronophthisis 11, 613550; {Bardet-Biedl syndrome 14, modifier of}, 615991; Joubert syndrome 6, 610688; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; COACH syndrome 1, 216360609884
TMEM70Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052612418
TMEM94Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316618163
TMEM98Nanophthalmos 4, 615972615949
TMIEDeafness 6, 600971607237
TMLHE{Autism, susceptibility to, X-linked 6}, 300872, X-linked recessive300777
TMPRSS15Enterokinase deficiency, 226200606635
TMPRSS3Deafness 8/10, 601072605511
TMPRSS6Iron-refractory iron deficiency anemia, 206200609862
TMTC3Lissencephaly 8, 617255617218
TMTC4?Deafness 122, 620714618203
TMX2Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, 618730616715
TNCDeafness 56, 615629187380
TNF{Migraine without aura, susceptibility to}, 157300; {Dementia, vascular, susceptibility to}; {Asthma, susceptibility to}, 600807; {Septic shock, susceptibility to}; {Malaria, cerebral, susceptibility to}, 611162191160
TNFAIP3Autoinflammatory syndrome, familial, Behcet-like 1, 616744191163
TNFRSF10BSquamous cell carcinoma, head and neck, 275355603612
TNFRSF11AOsteopetrosis 7, 612301; {Paget disease of bone 2, early-onset}, 602080; Osteolysis, familial expansile, 174810603499
TNFRSF11BPaget disease of bone 5, juvenile-onset, 239000602643
TNFRSF13BImmunodeficiency, common variable, 2, 240500; Immunoglobulin A deficiency 2, 609529604907
TNFRSF13CImmunodeficiency, common variable, 4, 613494606269
TNFRSF1A{Multiple sclerosis, susceptibility to, 5}, 614810; Periodic fever, familial, 142680191190
TNFRSF4?Immunodeficiency 16, 615593600315
TNFRSF9Immunodeficiency 109 with lymphoproliferation, 620282602250
TNFSF11Osteopetrosis 2, 259710602642
TNFSF4{Myocardial infarction, susceptibility to}, 608446603594
TNIKIntellectual developmental disorder 54, 617028610005
TNNC1Cardiomyopathy, dilated, 1Z, 611879; Cardiomyopathy, hypertrophic, 13, 613243191040
TNNC2Congenital myopathy 15, 620161191039
TNNI2Arthrogryposis, distal, type 2B1, 601680191043
TNNI3?Cardiomyopathy, dilated, 2A, 611880; Cardiomyopathy, hypertrophic, 7, 613690; Cardiomyopathy, familial restrictive, 1, 115210; Cardiomyopathy, dilated, 1FF, 613286191044
TNNI3KCardiac conduction disease with or without dilated cardiomyopathy, 616117613932
TNNT1Nemaline myopathy 5C, 620389; Nemaline myopathy 5A, severe infantile, 605355; Nemaline myopathy 5B, childhood-onset, 620386191041
TNNT2Cardiomyopathy, dilated, 1D, 601494; Cardiomyopathy, hypertrophic, 2, 115195; Cardiomyopathy, familial restrictive, 3, 612422; Left ventricular noncompaction 6, 601494191045
TNNT3Arthrogryposis, distal, type 2B2, 618435600692
TNPO2Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, 619556603002
TNPO3Muscular dystrophy, limb-girdle 2, 608423610032
TNRNeurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, 619653601995
TNRC6A?Epilepsy, familial adult myoclonic, 6, 618074610739
TNRC6BGlobal developmental delay with speech and behavioral abnormalities, 619243610740
TNXBEhlers-Danlos syndrome, classic-like, 1, 606408; Vesicoureteral reflux 8, 615963600985
TOE1Pontocerebellar hypoplasia, type 7, 614969613931
TOGARAM1Joubert syndrome 37, 619185617618
TOM1?Immunodeficiency 85 and autoimmunity, 619510604700
TOMM7Garg-Mishra progeroid syndrome, 620601607980
TONSLSpondyloepimetaphyseal dysplasia, sponastrime type, 271510604546
TOP1DNA topoisomerase I, camptothecin-resistant126420
TOP2ADNA topoisomerase II, resistance to inhibition of, by amsacrine126430
TOP2BB-cell immunodeficiency, distal limb anomalies, and urogenital malformations, 609296126431
TOP3AMicrocephaly, growth restriction, and increased sister chromatid exchange 2, 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions 5, 618098601243
TOP6BLHydatidiform mole, recurrent, 4, 618432616109
TOPORSRetinitis pigmentosa 31, 609923609507
TOR1A{Dystonia-1, modifier of}; Arthrogryposis multiplex congenita 5, 618947; Dystonia-1, torsion, 128100605204
TOR1AIP1?Muscular dystrophy, with rigid spine and distal joint contractures, 617072614512
TP53{Basal cell carcinoma 7}, 614740; {Adrenocortical carcinoma, pediatric}, 202300; Hepatocellular carcinoma, somatic, 114550; Breast cancer, somatic, 114480; Li-Fraumeni syndrome, 151623; Pancreatic cancer, somatic, 260350; Nasopharyngeal carcinoma, somatic, 607107; {Osteosarcoma}, 259500, Somatic mutation; {Choroid plexus papilloma}, 260500; {Colorectal cancer}, 114500, Somatic mutation; {Glioma susceptibility 1}, 137800, Somatic mutation; Bone marrow failure syndrome 5, 618165191170
TP53RKGalloway-Mowat syndrome 4, 617730608679
TP63Premature ovarian failure 21, 620311; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; Orofacial cleft 8, 618149; Rapp-Hodgkin syndrome, 129400; ADULT syndrome, 103285; Limb-mammary syndrome, 603543603273
TP73Ciliary dyskinesia, primary, 47, and lissencephaly, 619466601990
TPCN2[Skin/hair/eye pigmentation 10, blond/brown hair], 612267612163
TPH2{?Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003; {Unipolar depression, susceptibility to}, 608516607478
TPI1Hemolytic anemia due to triosephosphate isomerase deficiency, 615512190450
TPK1Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458606370
TPM1Left ventricular noncompaction 9, 611878; Cardiomyopathy, hypertrophic, 3, 115196; Cardiomyopathy, dilated, 1Y, 611878191010
TPM2Arthrogryposis, distal, type 2B4, 108120; Arthrogryposis, distal, type 1A, 108120; Congenital myopathy 23, 609285190990
TPM3Congenital myopathy 4A, 255310; Congenital myopathy 4B, 609284191030
TPM4Bleeding disorder, platelet-type, 25, 620486600317
TPMT{Thiopurines, poor metabolism of, 1}, 610460187680
TPOThyroid dyshormonogenesis 2A, 274500606765
TPP1Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia 7, 609270607998
TPP2Immunodeficiency 78 with autoimmunity and developmental delay, 619220190470
TPR?Intellectual developmental disorder 79, 620393189940
TPRKBGalloway-Mowat syndrome 5, 617731608680
TPRNDeafness 79, 613307613354
TRACImmunodeficiency 7, TCR-alpha/beta deficient, 615387186880
TRAF3{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849601896
TRAF3IP1Senior-Loken syndrome 9, 616629607380
TRAF3IP2?Candidiasis, familial, 8, 615527; {Psoriasis susceptibility 13}, 614070607043
TRAF7Cardiac, facial, and digital anomalies with developmental delay, 618164606692
TRAIPSeckel syndrome 9, 616777605958
TRAK1Developmental and epileptic encephalopathy 68, 618201608112
TRAPPC10Neurodevelopmental disorder with microcephaly, short stature, and speech delay, 620027602103
TRAPPC11Muscular dystrophy, limb-girdle 18, 615356614138
TRAPPC12Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669614139
TRAPPC14?Microcephaly 25, primary, 618351618350
TRAPPC2Spondyloepiphyseal dysplasia tarda, 313400, X-linked recessive300202
TRAPPC2LEncephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331610970
TRAPPC4Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741610971
TRAPPC6BNeurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862610397
TRAPPC9Intellectual developmental disorder 13, 613192611966
TRDNCardiac arrhythmia syndrome, with or without skeletal muscle weakness, 615441603283
TREHTrehalase deficiency, 612119275360
TREM2{Alzhieimer disease 17, susceptibility to}, 615080; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193605086
TREX1Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; {Systemic lupus erythematosus, susceptibility to}, 152700; Chilblain lupus, 610448606609
TRHThyrotropin-releasing hormone deficiency, 275120613879
TRHRHypothyroidism, congenital, nongoitrous, 7, 618573188545
TRICY1Trichilemmal cyst 1, 609649609649
TRIM2Charcot-Marie-Tooth disease, type 2R, 615490614141
TRIM32?Bardet-Biedl syndrome 11, 615988; Muscular dystrophy, limb-girdle 8, 254110602290
TRIM36?Anencephaly 1, 206500609317
TRIM37Mulibrey nanism, 253250605073
TRIM44?Aniridia 3, 617142612298
TRIM71Hydrocephalus, congenital, 4, 618667618570
TRIM8Focal segmental glomerulosclerosis and neurodevelopmental syndrome, 619428606125
TRIOIntellectual developmental disorder 44, with microcephaly, 617061; Intellectual developmental disorder 63, with macrocephaly, 618825601893
TRIOBPDeafness 28, 609823609761
TRIP11Odontochondrodysplasia 1, 184260; Achondrogenesis, type IA, 200600604505
TRIP12Intellectual developmental disorder 49, 617752604506
TRIP13Oocyte/zygote/embryo maturation arrest 9, 619011; Mosaic variegated aneuploidy syndrome 3, 617598604507
TRIP4?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866604501
TRIT1Combined oxidative phosphorylation deficiency 35, 617873617840
TRMT1Intellectual developmental disorder 68, 618302611669
TRMT10AMicrocephaly, short stature, and impaired glucose metabolism 1, 616033616013
TRMT10CCombined oxidative phosphorylation deficiency 30, 616974615423
TRMT5Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, 616539611023
TRMU{Deafness, mitochondrial, modifier of}, 580000, Mitochondrial; Liver failure, transient infantile, 613070610230
TRNT1Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959612907
TRPA1?Episodic pain syndrome, familial, 1, 615040604775
TRPC3?Spinocerebellar ataxia 41, 616410602345
TRPC6Glomerulosclerosis, focal segmental, 2, 603965603652
TRPM1Night blindness, congenital stationary (complete), 1C, 613216603576
TRPM3?Cataract 50 with or without glaucoma, 620253; Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, 620224608961
TRPM4Progressive familial heart block, type IB, 604559; Erythrokeratodermia variabilis et progressiva 6, 618531606936
TRPM6Hypomagnesemia 1, intestinal, 602014607009
TRPM7{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500605692
TRPS1Trichorhinophalangeal syndrome, type III, 190351; Trichorhinophalangeal syndrome, type I, 190350604386
TRPV3?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome 1, 614594607066
TRPV4Neuronopathy, distal hereditary motor 8, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; Digital arthropathy-brachydactyly, familial, 606835; [Sodium serum level QTL 1], 613508; SED, Maroteaux type, 184095; Metatropic dysplasia, 156530; Scapuloperoneal spinal muscular atrophy, 181405; Hereditary motor and sensory neuropathy, type IIc, 606071; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400; Brachyolmia type 3, 113500605427
TRPV6Hyperparathyroidism, transient neonatal, 618188606680
TRRAP?Deafness 75, 618778; Developmental delay with or without dysmorphic facies and autism, 618454603015
TRU-TCA1-1Thyroid hormone metabolism, abnormal, 3, 620198165060
TSC1Focal cortical dysplasia, type II, somatic, 607341; Tuberous sclerosis-1, 191100; Lymphangioleiomyomatosis, 606690605284
TSC2Lymphangioleiomyomatosis, somatic, 606690; ?Focal cortical dysplasia, type II, somatic, 607341; Tuberous sclerosis-2, 613254191092
TSEN15Pontocerebellar hypoplasia, type 2F, 617026608756
TSEN2Pontocerebellar hypoplasia type 2B, 612389608753
TSEN34?Pontocerebellar hypoplasia type 2C, 612390608754
TSEN54Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753; ?Pontocerebellar hypoplasia type 5, 610204608755
TSFMCombined oxidative phosphorylation deficiency 3, 610505604723
TSG11{Nonsmall cell lung cancer}, 603040603040
TSGA10?Spermatogenic failure 26, 617961607166
TSHBHypothyroidism, congenital, nongoitrous 4, 275100188540
TSHQTL1[Thyroid-stimulating hormone level QTL 1], 612306612306
TSHRHyperthyroidism, familial gestational, 603373; Hyperthyroidism, nonautoimmune, 609152; Thyroid adenoma, hyperfunctioning, somatic, 609152; Hypothyroidism, congenital, nongoitrous, 1, 275200; Thyroid carcinoma with thyrotoxicosis, somatic, 609152603372
TSHZ1Aural atresia, congenital, 607842614427
TSPAN12Exudative vitreoretinopathy 5, 613310613138
TSPAN7Intellectual developmental disorder, X-linked 58, 300210, X-linked recessive300096
TSPEARTooth agenesis, selective, 10, 620173; ?Deafness 98, 614861; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180612920
TSPOAP1Dystonia 22, juvenile-onset, 620453; ?Dystonia 22, adult-onset, 620456610764
TSPYL1Sudden infant death with dysgenesis of the testes syndrome, 608800604714
TSR2?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946, X-linked recessive300945
TST1[Tuberculin skin test reactivity, absence of], 613636613636
TST2[Tuberculin skin test reactivity QTL], 613637613637
TTBK2Spinocerebellar ataxia 11, 604432611695
TTC12Ciliary dyskinesia, primary, 45, 618801610732
TTC19Mitochondrial complex III deficiency, nuclear type 2, 615157613814
TTC21ASpermatogenic failure 37, 618429611430
TTC21BShort-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820612014
TTC29Spermatogenic failure 42, 618745618735
TTC5Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, 619244619014
TTC7AGastrointestinal defects and immunodeficiency syndrome, 243150609332
TTC8Bardet-Biedl syndrome 8, 615985; ?Retinitis pigmentosa 51, 613464608132
TTI1Neurodevelopmental disorder with microcephaly and movement abnormalities, 620445614425
TTI2Intellectual developmental disorder 39, 615541614426
TTLL5Cone-rod dystrophy 19, 615860612268
TTNMuscular dystrophy, limb-girdle 10, 608807; Cardiomyopathy, familial hypertrophic, 9, 613765; Congenital myopathy 5 with cardiomyopathy, 611705; Tibial muscular dystrophy, tardive, 600334; Cardiomyopathy, dilated, 1G, 604145; Myopathy, myofibrillar, 9, with early respiratory failure, 603689188840
TTPAAtaxia with isolated vitamin E deficiency, 277460600415
TTPP3{Thyrotoxic periodic paralysis, susceptibility to, 3}, 614834614834
TTRAmyloidosis, hereditary, transthyretin-related, 105210; Carpal tunnel syndrome, familial, 115430; [Dystransthyretinemic hyperthyroxinemia], 145680176300
TUB?Retinal dystrophy and obesity, 616188601197
TUBA1ALissencephaly 3, 611603602529
TUBA3DKeratoconus 9, 617928617878
TUBA4AAmyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208191110
TUBA8Macrothrombocytopenia, isolated, 2, 619840605742
TUBBSymmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771191130
TUBB1Macrothrombocytopenia, isolated, 1, 613112612901
TUBB2ACortical dysplasia, complex, with other brain malformations 5, 615763615101
TUBB2BCortical dysplasia, complex, with other brain malformations 7, 610031612850
TUBB3Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039602661
TUBB4ADystonia 4, torsion, 128101; Leukodystrophy, hypomyelinating, 6, 612438602662
TUBB4BLeber congenital amaurosis with early-onset deafness, 617879602660
TUBB6?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction, 617732615103
TUBB8Oocyte/zygote/embryo maturation arrest 2, 616780616768
TUBG1Cortical dysplasia, complex, with other brain malformations 4, 615412191135
TUBGCP2Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737617817
TUBGCP4Microcephaly and chorioretinopathy, 3, 616335609610
TUBGCP6Microcephaly and chorioretinopathy, 1, 251270610053
TUFMCombined oxidative phosphorylation deficiency 4, 610678602389
TUFT1Woolly hair-skin fragility syndrome, 620415600087
TUKLSTukel syndrome, 609428609428
TULP1Leber congenital amaurosis 15, 613843; Retinitis pigmentosa 14, 600132602280
TULP3Hepatorenocardiac degenerative fibrosis, 619902604730
TUSC3Intellectual developmental disorder 7, 611093601385
TWIST1Craniosynostosis 1, 123100; Robinow-Sorauf syndrome, 180750; Sweeney-Cox syndrome, 617746; Saethre-Chotzen syndrome with or without eyelid anomalies, 101400601622
TWIST2Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885; Focal facial dermal dysplasia 3, Setleis type, 227260607556
TWNKMitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609286; Perrault syndrome 5, 616138606075
TXN2?Combined oxidative phosphorylation deficiency 29, 616811609063
TXNDC15Meckel syndrome 14, 619879617778
TXNL4ABurn-McKeown syndrome, 608572611595
TXNRD2?Glucocorticoid deficiency 5, 617825606448
TYK2Immunodeficiency 35, 611521176941
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type), 603041131222
TYMSDyskeratosis congenita, digenic, 620040, Digenic dominant188350
TYR[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; [Skin/hair/eye pigmentation 3, blue/green eyes], 601800; {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800; Albinism, oculocutaneous, type IB, 606952; Albinism, oculocutaneous, type IA, 203100606933
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770604142
TYRP1[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Albinism, oculocutaneous, type III, 203290115501
U2AF2Developmental delay, dysmorphic facies, and brain anomalies, 620535191318
UAQTL5[Uric acid concentration, serum, QTL5], 614746614746
UAQTL6[Uric acid concentration, serum, QTL6], 614747614747
UBA1Spinal muscular atrophy, X-linked 2, infantile, 301830, X-linked recessive; VEXAS syndrome, somatic, 301054314370
UBA2ACCES syndrome, 619959613295
UBA5?Spinocerebellar ataxia 24, 617133; Developmental and epileptic encephalopathy 44, 617132610552
UBAP1Spastic paraplegia 80, 618418609787
UBAP2LNeurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, 620494616472
UBE2AIntellectual developmental disorder, X-linked syndromic, Nascimento type, 300860, X-linked recessive312180
UBE2TFanconi anemia, complementation group T, 616435610538
UBE3AAngelman syndrome, 105830601623
UBE3BKaufman oculocerebrofacial syndrome, 244450608047
UBE3CNeurodevelopmental disorder with absent speech and movement and behavioral abnormalities, 620270614454
UBE4ANeurodevelopmental disorder with hypotonia and gross motor and speech delay, 619639603753
UBIAD1Corneal dystrophy, Schnyder type, 121800611632
UBQLN2Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857, X-linked dominant300264
UBR1Johanson-Blizzard syndrome, 243800605981
UBR7Li-Campeau syndrome, 619189613816
UBTFNeurodegeneration, childhood-onset, with brain atrophy, 617672600673
UCHL1{?Parkinson disease 5, susceptibility to}, 613643; Spastic paraplegia 79A, 620221; Spastic paraplegia 79B, 615491191342
UCP2{Obesity, susceptibility to, BMIQ4}, 607447601693
UCP3{Obesity, severe, and type II diabetes}, 601665, Multifactorial602044
UFC1Neurodevelopmental disorder with spasticity and poor growth, 618076610554
UFM1Leukodystrophy, hypomyelinating, 14, 617899610553
UFSP2?Hip dysplasia, Beukes type, 142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974; Developmental and epileptic encephalopathy 106, 620028611482
UGDHDevelopmental and epileptic encephalopathy 84, 618792603370
UGP2Developmental and epileptic encephalopathy 83, 618744191760
UGT1A1Crigler-Najjar syndrome, type I, 218800; [Bilirubin, serum level of, QTL1], 601816; Hyperbilirubinemia, familial transient neonatal, 237900; Crigler-Najjar syndrome, type II, 606785; [Gilbert syndrome], 143500191740
UGT2B17{Bone mineral density QTL 12, osteoporosis}, 612560601903
UMODTubulointerstitial kidney disease, 1, 162000191845
UMPSOrotic aciduria, 258900613891
UNC119Cone-rod dystrophy 24, 620342; ?Immunodeficiency 13, 615518604011
UNC13DHemophagocytic lymphohistiocytosis, familial, 3, 608898608897
UNC45AOsteootohepatoenteric syndrome, 619377611219
UNC45B?Cataract 43, 616279; Myofibrillar myopathy 11, 619178611220
UNC80Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801612636
UNC93B1{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551608204
UNGImmunodeficiency with hyper IgM, type 5, 608106191525
UOX[Urate oxidase deficiency]191540
UPB1Beta-ureidopropionase deficiency, 613161606673
UPF3BIntellectual developmental disorder, X-linked syndromic 14, 300676, X-linked recessive300298
UQCC2Mitochondrial complex III deficiency, nuclear type 7, 615824614461
UQCC3?Mitochondrial complex III deficiency, nuclear type 9, 616111616097
UQCRBMitochondrial complex III deficiency, nuclear type 3, 615158191330
UQCRC1Parkinsonism with polyneuropathy, 619279191328
UQCRC2Mitochondrial complex III deficiency, nuclear type 5, 615160191329
UQCRFS1Mitochondrial complex III deficiency, nuclear type 10, 618775191327
UQCRH?Mitochondrial complex III deficiency, nuclear type 11, 620137613844
UQCRQMitochondrial complex III deficiency, nuclear type 4, 615159612080
UROC1?Urocanase deficiency, 276880613012
URODPorphyria, hepatoerythropoietic, 176100; Porphyria cutanea tarda, 176100613521
UROSPorphyria, congenital erythropoietic, 263700606938
USB1Poikiloderma with neutropenia, 604173613276
USF1{Hyperlipidemia, familial combined, susceptibility to}, 602491191523
USH1CUsher syndrome, type 1C, 276904; Deafness 18A, 602092605242
USH1EUsher syndrome, type 1E, 602097602097
USH1GUsher syndrome, type 1G, 606943607696
USH1HUsher syndrome, type 1H, 612632612632
USH1KUsher syndrome, type IK, 614990614990
USH2AUsher syndrome, type 2A, 276901; Retinitis pigmentosa 39, 613809608400
USP18Pseudo-TORCH syndrome 2, 617397607057
USP26Spermatogenic failure, X-linked, 6, 301101, X-linked300309
USP27XIntellectual developmental disorder, X-linked 105, 300984, X-linked recessive300975
USP45?Leber congenital amaurosis 19, 618513618439
USP48Deafness 85, 620227617445
USP53Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, 619658617431
USP7Hao-Fountain syndrome, 616863602519
USP8Pituitary adenoma 4, ACTH-secreting, somatic, 219090603158
USP9XIntellectual developmental disorder, X-linked 99, 300919, X-linked recessive; Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, 300968, X-linked dominant300072
USP9YSpermatogenic failure, Y-linked, 2, 415000, Y-linked400005
UVSSAUV-sensitive syndrome 3, 614640614632
VAC14Striatonigral degeneration, childhood-onset, 617054604632
VAMAS6{Vitiligo-associated multiple autoimmune disease susceptibility 6}, 193200193200
VAMP1Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, 108600185880
VAMP2Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, 618760185881
VANGL1{Neural tube defects, susceptibility to}, 182940; Caudal regression syndrome, 600145610132
VANGL2Neural tube defects, 182940600533
VAPBSpinal muscular atrophy, late-onset, Finkel type, 182980; Amyotrophic lateral sclerosis 8, 608627605704
VARS1Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802192150
VARS2Combined oxidative phosphorylation deficiency 20, 615917612802
VAX1?Microphthalmia, syndromic 11, 614402604294
VCANWagner syndrome 1, 143200118661
VCLCardiomyopathy, dilated, 1W, 611407; Cardiomyopathy, hypertrophic, 15, 613255193065
VCPFrontotemporal dementia and/or amyotrophic lateral sclerosis 6, 613954; Charcot-Marie-Tooth disease, type 2Y, 616687; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320601023
VDRRickets, vitamin D-resistant, type IIA, 277440601769
VEGFA{Microvascular complications of diabetes 1}, 603933192240
VEGFCLymphatic malformation 4, 615907601528
VEZF1?Cardiomyopathy, dilated, 1OO, 620247606747
VHLHemangioblastoma, cerebellar, somatic; Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Renal cell carcinoma, somatic, 144700; Pheochromocytoma, 171300608537
VIMCataract 30, pulverulent, 116300193060
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2, 613404613401
VKORC1Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473; Warfarin resistance, 122700608547
VLDLRCerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1, 224050192977
VMA21Myopathy, X-linked, with excessive autophagy, 310440, X-linked recessive300913
VPS11?Dystonia 32, 619637; Leukodystrophy, hypomyelinating, 12, 616683608549
VPS13AChoreoacanthocytosis, 200150605978
VPS13BCohen syndrome, 216550607817
VPS13CParkinson disease 23, early onset, 616840608879
VPS13DSpinocerebellar ataxia 4, 607317608877
VPS16Dystonia 30, 619291608550
VPS33AMucopolysaccharidosis-plus syndrome, 617303610034
VPS33BKeratoderma-ichthyosis-deafness syndrome, 620009; Cholestasis, progressive familial intrahepatic, 12, 620010; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085608552
VPS35{Parkinson disease 17}, 614203601501
VPS35LRitscher-Schinzel syndrome 3, 619135618981
VPS37ASpastic paraplegia 53, 614898609927
VPS41Spinocerebellar ataxia 29, 619389605485
VPS45Neutropenia, severe congenital, 5, 615285610035
VPS4ACIMDAG syndrome, 619273609982
VPS50Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, 619685616465
VPS51Pontocerebellar hypoplasia, type 13, 618606615738
VPS53Pontocerebellar hypoplasia, type 2E, 615851615850
VRK1Pontocerebellar hypoplasia type 1A, 607596; Neuronopathy, distal hereditary motor 10, 620542602168
VSPA[Visuospatial/perceptual abilities], 313000, ?X-linked recessive; Turner syndrome-associated neurocognitive phenotype, 313000, ?X-linked recessive313000
VSX1?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195; Keratoconus 1, 148300605020
VSX2Microphthalmia, isolated 2, 610093; Microphthalmia/coloboma 3, 610092142993
VURVesicoureteral reflux 1, 193000193000
VUR4Vesicoureteral reflux 4, 614317614317
VUR5Vesicoureteral reflux 5, 614318614318
VUR6Vesicoureteral reflux 6, 614319614319
VUR7Vesicoureteral reflux 7, 615390615390
VVSSyncope, familial vasovagal, 609289609289
VWA1Neuronopathy, distal hereditary motor 7, 619216611901
VWA3B?Spinocerebellar ataxia 22, 616948614884
VWA8?Retinitis pigmentosa 97, 620422617509
VWFvon Willebrand disease, type 1, 193400; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554; von Willebrand disease, type 3, 277480613160
WACDesanto-Shinawi syndrome, 616708615049
WARS1Neuronopathy, distal hereditary motor 9, 617721; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, 620317191050
WARS2Parkinsonism-dystonia 3, childhood-onset, 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710604733
WASWiskott-Aldrich syndrome, 301000, X-linked recessive; Neutropenia, severe congenital, X-linked, 300299, X-linked recessive; Thrombocytopenia, X-linked, intermittent, 313900, X-linked recessive; Thrombocytopenia, X-linked, 313900, X-linked recessive300392
WASF1Neurodevelopmental disorder with absent language and variable seizures, 618707605035
WASHC4Intellectual developmental disorder 43, 615817615748
WASHC5Ritscher-Schinzel syndrome 1, 220210; Spastic paraplegia 8, 603563610657
WBP11Vertebral, cardiac, tracheoesophageal, renal, and limb defects, 619227618083
WBP2Deafness 107, 617639606962
WBP4Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, 620852604981
WDFY3?Microcephaly 18, primary, 617520617485
WDPCPBardet-Biedl syndrome 15, 615992; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085613580
WDR1Periodic fever, immunodeficiency, and thrombocytopenia syndrome, 150550604734
WDR11Intellectual developmental disorder 78, 620237; Hypogonadotropic hypogonadism 14 with or without anosmia, 614858606417
WDR19Nephronophthisis 13, 614377; Cranioectodermal dysplasia 4, 614378; Senior-Loken syndrome 8, 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; ?Spermatogenic failure 72, 619867608151
WDR26Skraban-Deardorff syndrome, 617616617424
WDR35Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610613602
WDR36Glaucoma 1, open angle, G, 609887609669
WDR37Neurooculocardiogenitourinary syndrome, 618652618586
WDR4Galloway-Mowat syndrome 6, 618347; Microcephaly, growth deficiency, seizures, and brain malformations, 618346605924
WDR45Neurodegeneration with brain iron accumulation 5, 300894, X-linked dominant300526
WDR45BNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977609226
WDR62Microcephaly 2, primary, with or without cortical malformations, 604317613583
WDR72Amelogenesis imperfecta, type IIA3, 613211613214
WDR73Galloway-Mowat syndrome 1, 251300616144
WDR81Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2, 610185; Hydrocephalus, congenital, 3, with brain anomalies, 617967614218
WEE2Oocyte/zygote/embryo maturation arrest 5, 617996614084
WFS1Deafness 6/14/38, 600965; ?Cataract 41, 116400; Wolfram-like syndrome, 614296; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; Wolfram syndrome 1, 222300606201
WGGranulomatosis with polyangiitis, 608710608710
WHRNDeafness 31, 607084; Usher syndrome, type 2D, 611383607928
WIPF1Wiskott-Aldrich syndrome 2, 614493602357
WIPI2?Intellectual developmental disorder with short stature and variable skeletal anomalies, 618453609225
WLSZaki syndrome, 619648611514
WM2{Macroglobulinemia, Waldenstrom, susceptibility to, 2}, 610430610430
WNK1Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492605232
WNK3Prieto syndrome, 309610, X-linked recessive300358
WNK4Pseudohypoaldosteronism, type IIB, 614491601844
WNT1{Osteoporosis, early-onset, susceptibility to}, 615221; Osteogenesis imperfecta, type XV, 615220164820
WNT10ASchopf-Schulz-Passarge syndrome, 224750; Tooth agenesis, selective, 4, 150400; Ectodermal dysplasia 16 (odontoonychodermal dysplasia), 257980606268
WNT10BTooth agenesis, selective, 8, 617073; Split-hand/foot malformation 6, 225300601906
WNT2BDiarrhea 9, 618168601968
WNT3?Tetra-amelia syndrome 1, 273395165330
WNT4?SERKAL syndrome, 611812; Mullerian aplasia and hyperandrogenism, 158330603490
WNT5ARobinow syndrome 1, 180700164975
WNT7AFuhrmann syndrome, 228930; Ulna and fibula, absence of, with severe limb deficiency, 276820601570
WRAP53Dyskeratosis congenita 3, 613988612661
WRNWerner syndrome, 277700604611
WS2BWaardenburg syndrome, type 2B, 600193600193
WS2CWaardenburg syndrome, type 2C, 606662606662
WT1Mesothelioma, somatic, 156240; Meacham syndrome, 608978; Frasier syndrome, 136680, Somatic mutation; Nephrotic syndrome, type 4, 256370; Denys-Drash syndrome, 194080, Somatic mutation; Wilms tumor, type 1, 194070, Somatic mutation607102
WT3Wilms tumor, type 3, 194090194090
WT4Wilms tumor, type 4, 601363601363
WWC1[Memory, enhanced, QTL], 615602610533
WWOXEsophageal squamous cell carcinoma, somatic, 133239; Developmental and epileptic encephalopathy 28, 616211; Spinocerebellar ataxia 12, 614322605131
XBP1{Major affective disorder-7, susceptibility to}, 612371194355
XDHXanthinuria, type I, 278300607633
XECDCorneal dystrophy, endothelial, X-linked, 300779, X-linked dominant300779
XIAPLymphoproliferative syndrome, X-linked, 2, 300635, X-linked recessive300079
XISTX-inactivation, familial skewed, 300087, X-linked314670
XKMcLeod syndrome, 300842, X-linked314850
XPAXeroderma pigmentosum, group A, 278700611153
XPCXeroderma pigmentosum, group C, 278720613208
XPNPEP2{Angioedema induced by ACE inhibitors, susceptibility to}, 300909300145
XPNPEP3Nephronophthisis-like nephropathy 1, 613159613553
XPR1Basal ganglia calcification, idiopathic, 6, 616413605237
XRCC1?Spinocerebellar ataxia 26, 617633194360
XRCC2Spermatogenic failure 50, 619145; ?Premature ovarian failure 17, 619146; ?Fanconi anemia, complementation group U, 617247600375
XRCC3{Breast cancer, susceptibility to}, 114480, Somatic mutation; {Melanoma, cutaneous malignant, 6}, 613972600675
XRCC4Short stature, microcephaly, and endocrine dysfunction, 616541194363
XYLT1Desbuquois dysplasia 2, 615777; {Pseudoxanthoma elasticum, modifier of severity of}, 264800608124
XYLT2{Pseudoxanthoma elasticum, modifier of severity of}, 264800; Spondyloocular syndrome, 605822608125
YAP1Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development, 120433606608
YARS1Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, 619418; Charcot-Marie-Tooth disease, dominant intermediate C, 608323603623
YARS2Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561610957
YEATS2?Epilepsy, myoclonic, familial adult, 4, 615127613373
YIF1BKaya-Barakat-Masson syndrome, 619125619109
YIPF5Microcephaly, epilepsy, and diabetes syndrome 2, 619278611483
YME1L1?Optic atrophy 11, 617302607472
YRDCGalloway-Mowat syndrome 10, 619609612276
YWHAGDevelopmental and epileptic encephalopathy 56, 617665605356
YY1Gabriele-de Vries syndrome, 617557600013
YY1AP1Grange syndrome, 602531607860
ZAP70Immunodeficiency 48, 269840; Autoimmune disease, multisystem, infantile-onset, 2, 617006176947
ZBTB11Intellectual developmental disorder 69, 618383618181
ZBTB16Leukemia, acute promyelocytic, PL2F/RARA type176797
ZBTB18Intellectual developmental disorder 22, 612337608433
ZBTB20Primrose syndrome, 259050606025
ZBTB24Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069614064
ZBTB42?Lethal congenital contracture syndrome 6, 616248613915
ZBTB7AMacrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, 619769605878
ZC3H14Intellectual developmental disorder 56, 617125613279
ZC4H2Wieacker-Wolff syndrome, 314580, X-linked recessive; Wieacker-Wolff syndrome, female-restricted, 301041, X-linked dominant300897
ZCCHC8?Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5, 618674616381
ZD1Zygodactyly 1, 609815609815
ZDHHC9Intellectual developmental disorder, X-linked syndromic, Raymond type, 300799, X-linked300646
ZEB1Corneal dystrophy, posterior polymorphous, 3, 609141; Corneal dystrophy, Fuchs endothelial, 6, 613270189909
ZEB2Mowat-Wilson syndrome, 235730605802
ZFAT{Autoimmune thyroid disease, susceptibility to, 3}, 608175610931
ZFHX2?Marsili syndrome, 147430617828
ZFHX3Prostate cancer, somatic, 176807; {Atrial fibrillation 8, susceptibility to}, 613055; Spinocerebellar ataxia 4, 600223104155
ZFHX4?Ptosis, congenital, 178300606940
ZFP36L2Oocyte/zygote/embryo maturation arrest 13, 620154612053
ZFP57Diabetes mellitus, transient neonatal 1, 601410612192
ZFPM2Diaphragmatic hernia 3, 610187; 46XY sex reversal 9, 616067; Tetralogy of Fallot, 187500603693
ZFXIntellectual developmental disorder, X-linked syndromic 37, 301118, X-linked314980
ZFYVE19Cholestasis, progressive familial intrahepatic, 9, 619849619635
ZFYVE26Spastic paraplegia 15, 270700612012
ZIC1?Craniosynostosis 6, 616602; Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736600470
ZIC2Holoprosencephaly 5, 609637603073
ZIC3Congenital heart defects, nonsyndromic, 1, X-linked, 306955, X-linked recessive; Heterotaxy, visceral, 1, X-linked, 306955, X-linked recessive; VACTERL association, X-linked, 314390, X-linked recessive300265
ZMIZ1Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, 618659607159
ZMPSTE24Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy 1, 275210606480
ZMYM2Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, 619522602221
ZMYM3Intellectual developmental disorder, X-linked 112, 301111, X-linked recessive300061
ZMYND10Ciliary dyskinesia, primary, 22, 615444607070
ZMYND11Intellectual developmental disorder 30, 616083608668
ZMYND15?Spermatogenic failure 14, 615842614312
ZNF141?Polydactyly, postaxial, type A6, 615226194648
ZNF142Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425604083
ZNF148Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260601897
ZNF292Intellectual developmental disorder 64, 619188616213
ZNF335Microcephaly 10, primary, 615095610827
ZNF341Hyper-IgE syndrome 3, with recurrent infections, 618282618269
ZNF365{Nephrolithiasis, uric acid, susceptibility to}, 605990607818
ZNF407SIMHA syndrome, 619557615894
ZNF408Retinitis pigmentosa 72, 616469; ?Exudative vitreoretinopathy 6, 616468616454
ZNF423Nephronophthisis 14, 614844; Joubert syndrome 19, 614844604557
ZNF462Weiss-Kruszka syndrome, 618619617371
ZNF469Brittle cornea syndrome 1, 229200612078
ZNF513?Retinitis pigmentosa 58, 613617613598
ZNF526Dentici-Novelli neurodevelopmental syndrome, 619877614387
ZNF644Myopia 21, 614167614159
ZNF668Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, 620194617103
ZNF687Paget disease of bone 6, 616833610568
ZNF699DEGCAGS syndrome, 619488609571
ZNF711Intellectual developmental disorder, X-linked 97, 300803, X-linked314990
ZNF750?Seborrhea-like dermatitis with psoriasiform elements, 610227610226
ZNFX1Immunodeficiency 91 and hyperinflammation, 619644618931
ZNHIT3PEHO syndrome, 260565604500
ZP1Oocyte/zygote/embryo maturation arrest 1, 615774195000
ZP2Oocyte/zygote/embryo maturation arrest 6, 618353182888
ZP3Oocyte/zygote/embryo maturation arrest 3, 617712182889
ZPBP?Spermatogenic failure 66, 619799608498
ZPR1?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, 619321603901
ZSCAN10Otofacial neurodevelopmental syndrome, 620910618365
ZSWIM6Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865; Acromelic frontonasal dysostosis, 603671615951
ZSWIM7Spermatogenic failure 71, 619831; ?Ovarian dysgenesis 10, 619834614535

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