#GeneID AssociatedGenes RelatedGenes ConceptID DiseaseName SourceName SourceID DiseaseMIM LastUpdated 2 A2M C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 Feb 19 2020 144568 A2ML1 C1833692 Otitis media, susceptibility to NCBI curation 166760 Feb 16 2016 53947 A4GALT C3549485 p phenotype NCBI curation 111400 Feb 16 2016 8086 AAAS C0271742 Glucocorticoid deficiency with achalasia 231550 Feb 16 2016 79719 AAGAB C1835662 Keratosis palmoplantaris papulosa 148600 Feb 16 2016 16 AARS1 C2750090 Charcot-Marie-Tooth disease, type 2N NCBI curation 613287 Feb 16 2016 16 AARS1 C4225361 Epileptic encephalopathy, early infantile, 29 NCBI curation 616339 Feb 16 2016 57505 AARS2 C4014588 Leukoencephalopathy, progressive, with ovarian failure NCBI curation 615889 Feb 16 2016 57505 AARS2 C3279793 Combined oxidative phosphorylation deficiency 8 NCBI curation 614096 Feb 16 2016 10157 AASS C0543533 Hyperlysinemia Human Phenotype Ontology HP:0002161 238700 Feb 16 2016 18 ABAT C0342708 Gamma-aminobutyric acid transaminase deficiency 613163 Feb 16 2016 19 ABCA1 C5231558 Familial hypoalphalipoproteinemia NCBI curation 604091 May 25 2017 19 ABCA1 C0039292 Tangier disease 205400 Feb 16 2016 26154 ABCA12 C1832550 Autosomal recessive congenital ichthyosis 4A NCBI curation 601277 Feb 16 2016 26154 ABCA12 C0598226 Autosomal recessive congenital ichthyosis 4B NCBI curation 242500 Feb 16 2016 20 ABCA2 CN263395 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA OMIM 618808 618808 Mar 28 2020 21 ABCA3 C1970456 Surfactant metabolism dysfunction, pulmonary, 3 NCBI curation 610921 Feb 16 2016 24 ABCA4 C3495438 Age-related macular degeneration 2 NCBI curation 267718000 153800 Feb 16 2016 24 ABCA4 C1866422 Retinitis pigmentosa 19 NCBI curation 601718 Feb 16 2016 24 ABCA4 C1858806 Cone-rod dystrophy 3 604116 Feb 16 2016 24 ABCA4 C1855465 Stargardt disease 1 NCBI curation 248200 Feb 16 2016 23461 ABCA5 C1851120 Gingival fibromatosis-hypertrichosis syndrome MONDO MONDO:0007610 135400 Apr 17 2020 10347 ABCA7 C4282179 Alzheimer disease, type 9 NCBI curation 608907 Feb 16 2016 5243 ABCB1 C2677101 Inflammatory bowel disease 13 NCBI curation 612244 Feb 16 2016 5243 ABCB1 C1861502 Colchicine resistance NCBI curation 120080 Feb 16 2016 8647 ABCB11 C3489789 Progressive familial intrahepatic cholestasis 2 NCBI curation 601847 Feb 16 2016 8647 ABCB11 C2608083 Benign recurrent intrahepatic cholestasis type 2 MONDO MONDO:0011559 605479 Apr 22 2020 5244 ABCB4 C2609268 Gallbladder disease 1 NCBI curation 600803 Jan 11 2020 5244 ABCB4 C1865643 Progressive familial intrahepatic cholestasis 3 NCBI curation 602347 Feb 16 2016 5244 ABCB4 C3554241 Cholestasis, intrahepatic, of pregnancy 3 NCBI curation 614972 Feb 16 2016 10058 ABCB6 C3276339 Langereis blood group NCBI curation 111600 Feb 16 2016 10058 ABCB6 C1836705 Pseudohyperkalemia, familial, 2, due to red cell leak NCBI curation 609153 Feb 16 2016 10058 ABCB6 C3281027 Microphthalmia, isolated, with coloboma 7 NCBI curation 614497 Feb 16 2016 10058 ABCB6 C3809394 Dyschromatosis universalis hereditaria 3 NCBI curation 615402 Feb 16 2016 22 ABCB7 C1845028 X-linked sideroblastic anemia with ataxia MONDO MONDO:0010524 301310 Apr 17 2020 4363 ABCC1 CN282602 DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM 618915 618915 Jun 21 2020 85320 ABCC11 C1861696 Apocrine gland secretion, variation in NCBI curation 117800 Feb 16 2016 1244 ABCC2 C0022350 Dubin-Johnson syndrome 237500 Feb 16 2016 368 ABCC6 C0033847 Pseudoxanthoma elasticum 264800 Feb 16 2016 368 ABCC6 C1867450 Pseudoxanthoma elasticum, forme fruste 177850 Feb 16 2016 368 ABCC6 C3276161 Generalized arterial calcification of infancy 2 NCBI curation 614473 Feb 16 2016 6833 ABCC8 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 6833 ABCC8 C0271714 Leucine-induced hypoglycemia 240800 Feb 16 2016 6833 ABCC8 CN280869 DIABETES MELLITUS, PERMANENT NEONATAL 3 OMIM 618857 618857 May 2 2020 6833 ABCC8 C1835887 Transient neonatal diabetes mellitus 2 NCBI curation 610374 Feb 16 2016 6833 ABCC8 C1833104 Permanent neonatal diabetes mellitus MONDO MONDO:0011643 606176 May 27 2020 6833 ABCC8 C2931832 Hyperinsulinemic hypoglycemia, familial, 1 NCBI curation 256450 Dec 24 2019 10060 ABCC9 C0795905 Hypertrichotic osteochondrodysplasia Cantu type MONDO MONDO:0009406 239850 Apr 17 2020 10060 ABCC9 C3279695 Atrial fibrillation, familial, 12 NCBI curation 614050 Feb 16 2016 10060 ABCC9 C1837839 Dilated cardiomyopathy 1O NCBI curation C1837839 608569 Feb 16 2016 10060 ABCC9 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 215 ABCD1 C0162309 Adrenoleukodystrophy 300100 Feb 16 2016 5825 ABCD3 C4225390 Bile acid synthesis defect, congenital, 5 NCBI curation 616278 Feb 16 2016 5826 ABCD4 CN043592 Disorders of Intracellular Cobalamin Metabolism Feb 16 2016 5826 ABCD4 C3553915 Methylmalonic acidemia with homocystinuria, type cblJ MONDO MONDO:0013925 614857 Apr 17 2020 9429 ABCG2 C3280986 Blood group, Junior system NCBI curation 614490 Feb 16 2016 9429 ABCG2 C1841837 Uric acid concentration, serum, quantitative trait locus 1 NCBI curation 138900 Feb 16 2016 64240 ABCG5 C5231453 SITOSTEROLEMIA 2 OMIM 618666 618666 Nov 21 2019 64241 ABCG8 C1969115 Gallbladder disease 4 NCBI curation 611465 Feb 16 2016 64241 ABCG8 C5231390 Sitosterolemia 1 NCBI curation 210250 Jan 22 2020 26090 ABHD12 C2675204 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract NCBI curation 612674 Feb 16 2016 51099 ABHD5 C0268238 Triglyceride storage disease with ichthyosis 275630 Feb 16 2016 25 ABL1 C4539857 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME OMIM 617602 617602 Aug 4 2017 25 ABL1 C0023473 Chronic myelogenous leukemia, BCR-ABL1 positive MONDO MONDO:0011996 608232 Apr 17 2020 28 ABO C0000778 ABO blood group system NCBI curation 616093 Feb 16 2016 31 ACACA C0268603 Acetyl-CoA: carboxylase deficiency NCBI curation 613933 Feb 16 2016 27034 ACAD8 C1969809 Deficiency of isobutyryl-CoA dehydrogenase 611283 Feb 16 2016 28976 ACAD9 C4747517 Acyl-CoA dehydrogenase family, member 9, deficiency of NCBI curation 611126 Feb 16 2016 33 ACADL C0220711 Long chain acyl-CoA dehydrogenase deficiency Feb 16 2016 34 ACADM C0220710 Medium-chain acyl-coenzyme A dehydrogenase deficiency NCBI curation 201450 Feb 16 2016 35 ACADS C0342783 Deficiency of butyryl-CoA dehydrogenase 201470 Feb 16 2016 36 ACADSB C1864912 Deficiency of 2-methylbutyryl-CoA dehydrogenase NCBI curation 610006 Feb 16 2016 37 ACADVL C3887523 Very long chain acyl-CoA dehydrogenase deficiency NCBI curation 201475 Feb 16 2016 176 ACAN C3665488 Osteochondritis dissecans 165800 Feb 16 2016 176 ACAN C1842149 Spondyloepiphyseal dysplasia, kimberley type NCBI curation 608361 Feb 16 2016 176 ACAN C2748544 Spondyloepimetaphyseal dysplasia, Aggrecan type 612813 Feb 16 2016 38 ACAT1 C1536500 Deficiency of acetyl-CoA acetyltransferase 203750 Feb 16 2016 39 ACAT2 C0342735 Acetyl-CoA acetyltransferase-2 deficiency NCBI curation 614055 Feb 16 2016 91452 ACBD5 CN280859 RETINAL DYSTROPHY WITH LEUKODYSTROPHY OMIM 618863 618863 Apr 30 2020 65057 ACD C4225284 Dyskeratosis congenita, autosomal dominant 6 NCBI curation 616553 Feb 16 2016 1636 ACE C0266313 Renal dysplasia Human Phenotype Ontology HP:0000110 267430 Feb 16 2016 1636 ACE C3281105 Hemorrhage, intracerebral, susceptibility to NCBI curation 614519 Jun 5 2016 1636 ACE C0007222 Disorder of cardiovascular system NCBI curation Feb 16 2016 1636 ACE C2675470 Microvascular complications of diabetes 3 NCBI curation 612624 Feb 16 2016 55331 ACER3 C4540358 Alkaline ceramidase 3 deficiency MONDO MONDO:0044718 617762 Apr 17 2020 43 ACHE C1862189 Antigen in Cartwright blood group system NCBI curation 112100 Feb 16 2016 2532 ACKR1 C0013278 Duffy Blood group system NCBI curation 110700 Feb 16 2016 2532 ACKR1 C2676078 White blood cell count quantitative trait locus 1 NCBI curation 611862 Feb 16 2016 2532 ACKR1 C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 50 ACO2 C3281192 Infantile cerebellar-retinal degeneration NCBI curation 614559 Feb 16 2016 50 ACO2 C4225384 Optic atrophy 9 NCBI curation 616289 Feb 16 2016 51 ACOX1 C1849678 Peroxisomal acyl-CoA oxidase deficiency MONDO MONDO:0009919 264470 Apr 22 2020 8309 ACOX2 C4310624 Bile acid synthesis defect, congenital, 6 NCBI curation 617308 Jun 20 2017 53 ACP2 C0268410 Acid phosphatase deficiency 200950 Feb 16 2016 93650 ACP4 C4310630 Amelogenesis imperfecta, type IJ NCBI curation 617297 Jun 20 2017 54 ACP5 C1842763 Spondyloenchondrodysplasia with immune dysregulation NCBI curation 607944 May 16 2016 197322 ACSF3 C3280314 Combined malonic and methylmalonic aciduria NCBI curation 614265 Feb 16 2016 2182 ACSL4 C1845672 Mental retardation 63, X-linked NCBI curation 300387 Feb 16 2016 58 ACTA1 C3711389 Congenital myopathy with excess of thin filaments MONDO MONDO:0020342 161800 Apr 17 2020 58 ACTA1 C0546264 Congenital myopathy with fiber type disproportion 255310 Feb 16 2016 58 ACTA1 C4225181 Myopathy, scapulohumeroperoneal NCBI curation 616852 May 26 2016 59 ACTA2 C3151201 Multisystemic smooth muscle dysfunction syndrome NCBI curation 613834 Feb 16 2016 59 ACTA2 C2673186 Aortic aneurysm, familial thoracic 6 NCBI curation 611788 Feb 16 2016 59 ACTA2 C3279690 Moyamoya disease 5 NCBI curation 614042 Feb 16 2016 60 ACTB C1855722 Baraitser-Winter syndrome 1 NCBI curation 243310 Feb 16 2016 60 ACTB C1846331 Developmental malformations-deafness-dystonia syndrome MONDO MONDO:0011823 607371 Apr 17 2020 70 ACTC1 C2748552 Atrial septal defect 5 NCBI curation 612794 Feb 16 2016 70 ACTC1 C3150681 Dilated cardiomyopathy 1R NCBI curation CN035482 613424 Feb 16 2016 70 ACTC1 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 70 ACTC1 C2677506 Familial hypertrophic cardiomyopathy 11 NCBI curation 612098 Feb 16 2016 71 ACTG1 C1858172 Deafness, autosomal dominant 20 NCBI curation 604717 Feb 16 2016 71 ACTG1 C3281235 Baraitser-Winter Syndrome 2 NCBI curation 614583 Feb 16 2016 72 ACTG2 C0042781 Visceral myopathy NCBI curation 155310 Feb 16 2016 51412 ACTL6B C5193113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 OMIM 618468 618468 Jun 21 2019 51412 ACTL6B C5193115 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS OMIM 618470 618470 Jun 21 2019 87 ACTN1 C3554663 Platelet-type bleeding disorder 15 NCBI curation 615193 Feb 16 2016 88 ACTN2 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 88 ACTN2 C2677338 Dilated cardiomyopathy 1AA NCBI curation C2677338 612158 Feb 16 2016 88 ACTN2 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation Feb 16 2016 88 ACTN2 C5231445 MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES OMIM 618654 618654 Nov 10 2019 88 ACTN2 C5203349 MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT OMIM 618655 618655 Nov 10 2019 89 ACTN3 C3888204 ACTN3 deficiency NCBI curation 617749 Mar 6 2016 81 ACTN4 C4551527 Focal segmental glomerulosclerosis 1 NCBI curation 603278 Feb 16 2016 90 ACVR1 C0016037 Progressive myositis ossificans 135100 Feb 16 2016 93 ACVR2B C3151057 Heterotaxy, visceral, 4, autosomal NCBI curation 613751 Feb 16 2016 94 ACVRL1 C1838163 Telangiectasia, hereditary hemorrhagic, type 2 MONDO MONDO:0010880 600376 Apr 22 2020 95 ACY1 C1835922 Neurological conditions associated with aminoacylase 1 deficiency MONDO MONDO:0012368 609924 Apr 17 2020 100 ADA C1863236 Severe combined immunodeficiency due to ADA deficiency NCBI curation 102700 Feb 16 2016 51816 ADA2 C3887654 Polyarteritis nodosa, childhoood-onset NCBI curation 615688 Dec 26 2017 51816 ADA2 C0282492 Idiopathic livedo reticularis with systemic involvement 182410 Feb 16 2016 102 ADAM10 C0406811 Reticulate acropigmentation of Kitamura NCBI curation 615537 Feb 16 2016 102 ADAM10 C3810041 Alzheimer disease 18 NCBI curation 615590 Feb 16 2016 6868 ADAM17 C3280501 Inflammatory skin and bowel disease, neonatal 1 NCBI curation 614328 Feb 16 2016 53616 ADAM22 C4693688 Early infantile epileptic encephalopathy 61 NCBI curation 617933 Apr 23 2018 8754 ADAM9 C1423873 Cone-rod dystrophy 9 NCBI curation 612775 Feb 16 2016 81794 ADAMTS10 C4552002 Weill-Marchesani syndrome 1 NCBI curation 277600 Feb 16 2016 11093 ADAMTS13 C1268935 Upshaw-Schulman syndrome 274150 Feb 16 2016 170691 ADAMTS17 C2750787 Weill-Marchesani syndrome 4 NCBI curation 613195 Aug 5 2019 170692 ADAMTS18 C3809567 Microcornea, myopic chorioretinal atrophy, and telecanthus NCBI curation 615458 Feb 16 2016 9509 ADAMTS2 C2700425 Ehlers-Danlos syndrome dermatosparaxis type NCBI curation 225410 Nov 7 2019 9508 ADAMTS3 C4748408 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 OMIM 618154 618154 Oct 26 2018 9719 ADAMTSL2 C3278147 Geleophysic dysplasia 1 NCBI curation 231050 Feb 16 2016 54507 ADAMTSL4 C1644196 Ectopia lentis et pupillae 225200 Feb 16 2016 54507 ADAMTSL4 C3541474 Ectopia lentis 2, isolated, autosomal recessive MONDO MONDO:0009152 225100 Apr 22 2020 103 ADAR C3539013 Aicardi-Goutieres syndrome 6 NCBI curation 615010 Apr 8 2018 103 ADAR C0406775 Symmetrical dyschromatosis of extremities 127400 Feb 16 2016 104 ADARB1 CN280872 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES OMIM 618862 618862 May 2 2020 113179 ADAT3 C3809039 Mental retardation, autosomal recessive 36 NCBI curation 615286 Feb 16 2016 107 ADCY1 C1857809 Deafness, autosomal recessive 44 NCBI curation 610154 Feb 16 2016 55811 ADCY10 C0342639 Familial idiopathic hypercalciuria NCBI curation 143870 Feb 16 2016 109 ADCY3 C4693522 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 OMIM 617885 617885 Mar 1 2018 111 ADCY5 C1847627 Dyskinesia, familial, with facial myokymia NCBI curation 606703 Feb 16 2016 112 ADCY6 C4225385 Lethal congenital contracture syndrome 8 NCBI curation 616287 Feb 16 2016 118 ADD1 C0085580 Essential hypertension 145500 Feb 16 2016 120 ADD3 C4310767 Cerebral palsy, spastic quadriplegic, 3 NCBI curation 617008 Jul 3 2016 30817 ADGRE2 C0157743 Vibratory urticaria NCBI curation 125630 Aug 24 2016 9289 ADGRG1 C3810405 Polymicrogyria, bilateral perisylvian, autosomal recessive NCBI curation 615752 Feb 16 2016 9289 ADGRG1 C1847352 Polymicrogyria, bilateral frontoparietal NCBI curation 606854 Feb 16 2016 10149 ADGRG2 C4310815 Vas deferens, congenital bilateral aplasia of, X-linked NCBI curation 300985 Jun 20 2017 57211 ADGRG6 C4225303 Lethal congenital contracture syndrome 9 NCBI curation 616503 Mar 19 2016 84059 ADGRV1 C1858493 Febrile seizures, familial, 4 NCBI curation 604352 Feb 16 2016 84059 ADGRV1 C2931213 Usher syndrome, type 2C NCBI curation 605472 Feb 16 2016 125 ADH1B C0001973 Alcohol dependence NCBI curation 103780 Jul 6 2018 126 ADH1C C0001973 Alcohol dependence NCBI curation 103780 Jul 6 2018 126 ADH1C C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 9370 ADIPOQ C2675517 Serum level of adiponectin 1 NCBI curation 612556 Feb 16 2016 132 ADK C4706555 Hypermethioninemia due to adenosine kinase deficiency NCBI curation 614300 Feb 16 2016 23394 ADNP C4014538 Helsmoortel-Van der Aa Syndrome NCBI curation 615873 Jul 15 2019 54936 ADPRS C4748527 NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES OMIM 618170 618170 Nov 10 2018 153 ADRB1 C5231420 SHORT SLEEP, FAMILIAL NATURAL, 2 OMIM 618591 618591 Sep 27 2019 153 ADRB1 C1821417 Resting heart rate NCBI curation 607276 Feb 16 2016 154 ADRB2 C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 154 ADRB2 C0028754 Obesity NCBI curation 601665 Feb 16 2016 155 ADRB3 C0028754 Obesity NCBI curation 601665 Feb 16 2016 158 ADSL C0268126 Adenylosuccinate lyase deficiency 103050 Feb 16 2016 122622 ADSS1 C4310754 Myopathy, distal, 5 NCBI curation 617030 Aug 24 2016 165 AEBP1 C4693870 EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 OMIM 618000 618000 Jun 1 2018 2334 AFF2 C0751157 FRAXE NCBI curation 309548 Feb 16 2016 27125 AFF4 C4085597 Chops syndrome NCBI curation 616368 Feb 16 2016 10939 AFG3L2 C3280977 Spastic ataxia 5, autosomal recessive NCBI curation 614487 Feb 16 2016 10939 AFG3L2 C1853249 Spinocerebellar ataxia type 28 MONDO MONDO:0012450 610246 Apr 22 2020 174 AFP C1863081 Alpha-fetoprotein deficiency NCBI curation 615969 Feb 16 2016 174 AFP C1863080 Alpha-fetoprotein, hereditary persistence of NCBI curation 615970 Feb 16 2016 175 AGA C0268225 Aspartylglucosaminuria Human Phenotype Ontology HP:0012068 208400 Mar 19 2018 123624 AGBL1 C3809798 Corneal dystrophy, Fuchs endothelial, 8 NCBI curation 615523 Feb 16 2016 60509 AGBL5 C4310759 Retinitis pigmentosa 75 NCBI curation 617023 Aug 24 2016 55750 AGK C3553494 Cataract, autosomal recessive congenital 5 NCBI curation 614691 Feb 16 2016 55750 AGK C1859317 Sengers syndrome NCBI curation 212350 Feb 28 2019 178 AGL C0017922 Glycogen storage disease type III NCBI curation 232400 Feb 16 2016 10555 AGPAT2 C1720862 Congenital generalized lipodystrophy type 1 608594 Feb 16 2016 8540 AGPS C1838612 Rhizomelic chondrodysplasia punctata type 3 NCBI curation 600121 Feb 16 2016 375790 AGRN C3808739 Myasthenic syndrome, congenital, 8 NCBI curation 615120 Aug 24 2016 181 AGRP C0028754 Obesity NCBI curation 601665 Feb 16 2016 183 AGT C0266313 Renal dysplasia Human Phenotype Ontology HP:0000110 267430 Feb 16 2016 183 AGT C0085580 Essential hypertension 145500 Feb 16 2016 23287 AGTPBP1 C4748934 NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY OMIM 618276 618276 Jan 13 2019 185 AGTR1 C0085580 Essential hypertension 145500 Feb 16 2016 185 AGTR1 C0266313 Renal dysplasia Human Phenotype Ontology HP:0000110 267430 Feb 16 2016 189 AGXT C0268164 Primary hyperoxaluria, type I 259900 Feb 16 2016 64902 AGXT2 C1859518 Beta-aminoisobutyric aciduria NCBI curation 210100 Jun 20 2017 191 AHCY C3151058 Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency NCBI curation 613752 Feb 16 2016 27245 AHDC1 C4014419 Xia-Gibbs syndrome NCBI curation 615829 Feb 16 2016 54806 AHI1 C1837713 Joubert syndrome 3 NCBI curation 608629 Feb 16 2016 196 AHR C5193041 Retinitis pigmentosa 85 NCBI curation 618345 Mar 8 2019 197 AHSG C1859878 Alopecia-intellectual disability syndrome 1 MONDO MONDO:0021035 203650 Apr 17 2020 57379 AICDA C1720956 Hyper-IgM syndrome type 2 MONDO MONDO:0011528 605258 Apr 22 2020 9131 AIFM1 C0795910 Cowchock syndrome NCBI curation 310490 Aug 24 2016 9131 AIFM1 C1845095 Deafness, X-linked 5 NCBI curation 300614 Feb 16 2016 9131 AIFM1 C1846148 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy NCBI curation 300232 Dec 4 2019 9131 AIFM1 C3151753 Combined oxidative phosphorylation deficiency 6 NCBI curation 300816 Feb 16 2016 9255 AIMP1 C1850053 Hypomyelinating leukodystrophy 3 MONDO MONDO:0009843 260600 Apr 22 2020 7965 AIMP2 C4693912 LEUKODYSTROPHY, HYPOMYELINATING, 17 OMIM 618006 618006 Jun 7 2018 9049 AIP C4538355 Somatotroph adenoma NCBI curation 102200 Feb 16 2016 9049 AIP C0221406 Pituitary dependent hypercortisolism NCBI curation 219090 Feb 16 2016 23746 AIPL1 C1858386 Leber congenital amaurosis 4 NCBI curation 604393 Feb 16 2016 23746 AIPL1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 326 AIRE C0085859 Polyglandular autoimmune syndrome, type 1 NCBI curation 240300 Feb 16 2016 203 AK1 C2675459 Adenylate kinase deficiency, hemolytic anemia due to NCBI curation 612631 Feb 16 2016 204 AK2 C0272167 Reticular dysgenesis NCBI curation 267500 Feb 16 2016 122481 AK7 C4693784 SPERMATOGENIC FAILURE 27 OMIM 617965 617965 May 11 2018 11216 AKAP10 C0264886 Conduction disorder of the heart 115080 Feb 16 2016 10142 AKAP9 C2678483 Long QT syndrome 11 611820 Feb 16 2016 1646 AKR1C2 C1839840 46,XY sex reversal 8 NCBI curation 614279 Feb 16 2016 1109 AKR1C4 C1839840 46,XY sex reversal 8 NCBI curation 614279 Feb 16 2016 6718 AKR1D1 C1856127 Congenital bile acid synthesis defect 2 MONDO MONDO:0009339 235555 Apr 22 2020 207 AKT1 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 207 AKT1 C3554519 Cowden syndrome 6 NCBI curation 615109 Feb 16 2016 207 AKT1 C0919267 Neoplasm of ovary NCBI curation 167000 Feb 16 2016 207 AKT1 C0085261 Proteus syndrome NCBI curation 176920 Feb 16 2016 207 AKT1 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 208 AKT2 C1855860 Hypoglycemia, neonatal, simulating foetopathia diabetica NCBI curation 240900 Feb 16 2016 208 AKT2 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 10000 AKT3 C4014738 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 NCBI curation 615937 Feb 16 2016 210 ALAD C0268328 Porphobilinogen synthase deficiency NCBI curation 612740 Feb 16 2016 212 ALAS2 C2677889 Protoporphyria, erythropoietic, X-linked NCBI curation 300752 Feb 16 2016 212 ALAS2 C4551511 Anemia, sideroblastic, 1 NCBI curation 300751 Feb 8 2020 213 ALB C0878666 Analbuminemia NCBI curation 616000 Feb 16 2016 213 ALB C0342185 Hyperthyroxinemia, familial dysalbuminemic NCBI curation 615999 Feb 16 2016 5832 ALDH18A1 CN029699 Cutis laxa, autosomal recessive IIIA NCBI curation 219150 May 31 2020 5832 ALDH18A1 C4225268 Cutis laxa, autosomal dominant 3 NCBI curation 616603 Feb 16 2016 5832 ALDH18A1 C1832669 Hereditary spastic paraplegia 9A MONDO MONDO:0011006 601162 Apr 17 2020 5832 ALDH18A1 C4225272 Spastic paraplegia 9b, autosomal recessive NCBI curation 616586 Feb 16 2016 220 ALDH1A3 C3554524 Microphthalmia, isolated 8 NCBI curation 615113 Feb 16 2016 217 ALDH2 C2674838 Acute alcohol sensitivity NCBI curation 610251 Feb 16 2016 224 ALDH3A2 C0037231 Sjögren-Larsson syndrome NCBI curation 270200 Feb 16 2016 8659 ALDH4A1 C2931835 Deficiency of pyrroline-5-carboxylate reductase 239510 Feb 16 2016 7915 ALDH5A1 C0268631 Succinate-semialdehyde dehydrogenase deficiency 271980 Feb 16 2016 4329 ALDH6A1 C3279840 Methylmalonate semialdehyde dehydrogenase deficiency NCBI curation 614105 Feb 16 2016 501 ALDH7A1 C1849508 Pyridoxine-dependent epilepsy 266100 Feb 16 2016 226 ALDOA C0272066 HNSHA due to aldolase A deficiency 611881 Feb 16 2016 229 ALDOB C0016751 Hereditary fructosuria NCBI curation 229600 Feb 16 2016 56052 ALG1 C2931005 ALG1-CDG Orphanet ORPHA79327 608540 Apr 17 2020 56052 ALG1 C2931005 ALG1-CDG MONDO MONDO:0012052 608540 Apr 17 2020 144245 ALG10B C3150943 Long QT syndrome 2 613688 Feb 16 2016 440138 ALG11 C3150913 Congenital disorder of glycosylation type 1P NCBI curation 613661 Feb 16 2016 79087 ALG12 C2931001 ALG12-congenital disorder of glycosylation NCBI curation 607143 Dec 25 2017 79868 ALG13 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 Feb 16 2016 79868 ALG13 C3550904 Epileptic encephalopathy, early infantile, 36 NCBI curation 300884 Aug 24 2016 199857 ALG14 C4015596 Myasthenic syndrome, congenital, 15 NCBI curation 616227 Aug 24 2016 85365 ALG2 C4015597 Myasthenic syndrome, congenital, 14 NCBI curation 616228 Aug 24 2016 85365 ALG2 C1842836 ALG2-CDG MONDO MONDO:0011933 607906 Apr 17 2020 10195 ALG3 C1832736 ALG3-CDG MONDO MONDO:0010998 601110 Apr 17 2020 29929 ALG6 C2930997 Congenital disorder of glycosylation type 1C NCBI curation 603147 Jun 26 2020 79053 ALG8 C4693472 POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS OMIM 617874 617874 Feb 23 2018 79053 ALG8 C2931002 ALG8-CDG Orphanet ORPHA79325 608104 Apr 17 2020 79053 ALG8 C2931002 ALG8-CDG MONDO MONDO:0011969 608104 Apr 17 2020 79796 ALG9 C1849762 Gillessen-Kaesbach-Nishimura syndrome NCBI curation 263210 Jan 22 2017 79796 ALG9 C2931006 ALG9 congenital disorder of glycosylation NCBI curation 608776 Dec 25 2017 238 ALK C2751681 Neuroblastoma 3 NCBI curation 613014 Feb 16 2016 91801 ALKBH8 C5193133 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 OMIM 618504 618504 Jul 21 2019 7840 ALMS1 C0268425 Alstrom syndrome 203800 Feb 16 2016 242 ALOX12B C3888093 Autosomal recessive congenital ichthyosis 2 NCBI curation 242100 Feb 16 2016 240 ALOX5 C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 241 ALOX5AP C0948008 Ischemic stroke Human Phenotype Ontology HP:0002140 601367 Feb 16 2016 59344 ALOXE3 C3888093 Autosomal recessive congenital ichthyosis 2 NCBI curation 242100 Feb 16 2016 59344 ALOXE3 C3539888 Autosomal recessive congenital ichthyosis 3 NCBI curation 606545 Feb 16 2016 57538 ALPK3 C4748014 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 OMIM 618052 618052 Jul 14 2018 249 ALPL C0268412 Infantile hypophosphatasia 241500 Feb 16 2016 249 ALPL C0020630 Hypophosphatasia Feb 16 2016 249 ALPL C0268413 Adult hypophosphatasia 146300 Feb 16 2016 249 ALPL C0220743 Childhood hypophosphatasia 241510 Feb 16 2016 57679 ALS2 C1859807 Amyotrophic lateral sclerosis type 2 205100 Feb 16 2016 57679 ALS2 C1853396 Juvenile primary lateral sclerosis 606353 Feb 16 2016 57679 ALS2 C2931441 Infantile-onset ascending hereditary spastic paralysis 607225 Feb 16 2016 8092 ALX1 C3150706 Frontonasal dysplasia 3 NCBI curation 613456 Feb 16 2016 257 ALX3 C1876203 Frontonasal dysplasia 1 NCBI curation 136760 Feb 16 2016 60529 ALX4 C3150703 Frontonasal dysplasia 2 NCBI curation 613451 Feb 16 2016 60529 ALX4 C3809819 Craniosynostosis 5, susceptibility to NCBI curation 615529 Feb 16 2016 60529 ALX4 C1865044 Parietal foramina 2 NCBI curation 609597 Feb 16 2016 23600 AMACR C3280428 Alpha-methylacyl-CoA racemase deficiency NCBI curation 614307 Feb 16 2016 23600 AMACR C1858328 Congenital bile acid synthesis defect 4 MONDO MONDO:0008967 214950 Apr 22 2020 258 AMBN C4225394 Amelogenesis imperfecta, type IF NCBI curation 616270 Jun 20 2017 265 AMELX C1845053 Amelogenesis imperfecta, type 1E NCBI curation 301200 Feb 16 2016 139285 AMER1 C0432268 Osteopathia striata with cranial sclerosis 300373 Feb 16 2016 268 AMH C1849930 Persistent Mullerian duct syndrome 261550 Feb 16 2016 269 AMHR2 C1849930 Persistent Mullerian duct syndrome 261550 Feb 16 2016 9949 AMMECR1 C4310810 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis NCBI curation 300990 Jun 20 2017 81693 AMN CN280935 IMERSLUND-GRASBECK SYNDROME 2 OMIM 618882 618882 May 20 2020 270 AMPD1 C3714933 Muscle AMP deaminase deficiency NCBI curation 615511 Feb 16 2016 271 AMPD2 C3810295 Spastic paraplegia 63, autosomal recessive NCBI curation 615686 Feb 16 2016 271 AMPD2 C4014354 Pontocerebellar hypoplasia, type 9 NCBI curation 615809 Oct 21 2017 272 AMPD3 C2752073 Erythrocyte AMP deaminase deficiency NCBI curation 612874 Feb 16 2016 275 AMT C0751748 Non-ketotic hyperglycinemia 605899 Feb 16 2016 401138 AMTN C4539891 Amelogenesis imperfecta type 3B MONDO MONDO:0021547 617607 Apr 22 2020 64682 ANAPC1 C5231433 Rothmund-Thomson syndrome type 1 NCBI curation 618625 Nov 7 2019 283 ANG C2678468 Amyotrophic lateral sclerosis type 9 611895 Feb 16 2016 27329 ANGPTL3 C1857970 Hypobetalipoproteinemia, familial, 2 NCBI curation 605019 Feb 16 2016 51129 ANGPTL4 C4014553 Plasma triglyceride level quantitative trait locus NCBI curation 615881 Feb 16 2016 286 ANK1 C2674218 Spherocytosis type 1 NCBI curation 182900 Feb 16 2016 287 ANK2 C1970119 Cardiac arrhythmia, ankyrin B-related NCBI curation 600919 Feb 16 2016 288 ANK3 C3809672 Mental retardation, autosomal recessive 37 NCBI curation 615493 Feb 16 2016 56172 ANKH C1852502 Craniometaphyseal dysplasia, autosomal dominant 123000 Feb 16 2016 56172 ANKH C0856830 Familial calcium pyrophosphate deposition MONDO MONDO:0007319 118600 Apr 17 2020 23141 ANKLE2 C4225249 Microcephaly 16, primary, autosomal recessive NCBI curation 616681 Feb 16 2016 27063 ANKRD1 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 27063 ANKRD1 CN119551 ANKRD1-related dilated cardiomyopathy NCBI curation Feb 16 2016 29123 ANKRD11 C0220687 KBG syndrome 148050 Feb 16 2016 22852 ANKRD26 C1861185 Thrombocytopenia 2 188000 Feb 16 2016 203286 ANKS6 C3809320 Nephronophthisis 16 NCBI curation 615382 Feb 16 2016 54443 ANLN C4014993 Focal segmental glomerulosclerosis 8 NCBI curation 616032 Feb 16 2016 55129 ANO10 C3150998 Spinocerebellar ataxia, autosomal recessive 10 NCBI curation 613728 Feb 16 2016 63982 ANO3 C3554374 Dystonia 24 NCBI curation 615034 Feb 16 2016 203859 ANO5 C2750076 Miyoshi muscular dystrophy 3 NCBI curation 613319 Feb 16 2016 203859 ANO5 C1969785 Limb-girdle muscular dystrophy, type 2L NCBI curation 611307 Feb 16 2016 203859 ANO5 C1833736 Gnathodiaphyseal dysplasia NCBI curation 166260 Mar 8 2016 196527 ANO6 C0796149 SCOTT SYNDROME OMIM 262890 262890 May 9 2016 3730 ANOS1 C1563719 Hypogonadotropic hypogonadism 1 with or without anosmia MONDO MONDO:0010635 308700 Apr 22 2020 84168 ANTXR1 C0406723 Odontotrichomelic syndrome 230740 Feb 16 2016 84168 ANTXR1 C1865871 Hemangioma, capillary infantile NCBI curation 602089 Feb 16 2016 118429 ANTXR2 C2745948 Hyaline fibromatosis syndrome NCBI curation 228600 Feb 16 2016 311 ANXA11 C4693381 Amyotrophic lateral sclerosis type 23 MONDO MONDO:0027694 617839 Apr 22 2020 308 ANXA5 C3280674 Pregnancy loss, recurrent, susceptibility to, 3 NCBI curation 614391 Feb 16 2016 162 AP1B1 C1275089 Autosomal recessive keratitis-ichthyosis-deafness syndrome 242150 Feb 16 2016 1174 AP1S1 C1836330 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma NCBI curation 609313 Aug 24 2016 8905 AP1S2 C0796254 Pettigrew syndrome NCBI curation 304340 Aug 24 2016 130340 AP1S3 C4015235 Psoriasis 15, pustular, susceptibility to NCBI curation 616106 Feb 16 2016 1173 AP2M1 C5231497 INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES OMIM 618587 618587 Sep 19 2019 1175 AP2S1 C1833372 Hypocalciuric hypercalcemia, familial, type III NCBI curation 600740 May 26 2016 8546 AP3B1 C1842362 Hermansky-Pudlak syndrome 2 MONDO MONDO:0011997 608233 Apr 22 2020 8120 AP3B2 C4310637 Epileptic encephalopathy, early infantile, 48 NCBI curation 617276 Jun 20 2017 8943 AP3D1 C4310746 Hermansky-Pudlak syndrome 10 NCBI curation 617050 Nov 2 2017 10717 AP4B1 C3279738 Spastic paraplegia 47, autosomal recessive NCBI curation 614066 May 26 2016 23431 AP4E1 C3151056 Spastic paraplegia 51, autosomal recessive NCBI curation 613744 Feb 16 2016 23431 AP4E1 C3489627 Stuttering, familial persistent 1 NCBI curation 184450 Feb 16 2016 9179 AP4M1 C2752008 Spastic paraplegia 50, autosomal recessive NCBI curation 612936 Feb 16 2016 11154 AP4S1 C3279743 Spastic paraplegia 52, autosomal recessive NCBI curation 614067 May 16 2016 9907 AP5Z1 C3150901 Spastic paraplegia 48, autosomal recessive NCBI curation 613647 Feb 16 2016 324 APC C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 324 APC C0038356 Neoplasm of stomach NCBI curation 613659 Feb 16 2016 324 APC C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 Feb 16 2016 324 APC C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 Feb 16 2016 324 APC C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 Feb 16 2016 324 APC C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 Feb 16 2016 324 APC C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 Feb 16 2016 324 APC C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 324 APC C1851124 Desmoid disease, hereditary 135290 Feb 16 2016 324 APC CN240755 Familial adenomatous polyposis Mar 1 2017 10297 APC2 C4310684 Sotos syndrome 3 NCBI curation 617169 Jun 20 2017 10297 APC2 C5231458 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 OMIM 618677 618677 Nov 27 2019 147495 APCDD1 C4551976 Hypotrichosis 1 MONDO MONDO:0011549 605389 Apr 22 2020 335 APOA1 C0268389 Familial visceral amyloidosis, Ostertag type NCBI curation 105200 Feb 16 2016 335 APOA1 CN262194 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 OMIM 618463 618463 Aug 21 2019 336 APOA2 C0745103 Familial hypercholesterolemia 1 NCBI curation 143890 Jan 17 2020 116519 APOA5 C0020480 Familial hypertriglyceridemia NCBI curation 145750 Feb 16 2016 116519 APOA5 C0020481 Familial type 5 hyperlipoproteinemia 144650 Feb 16 2016 338 APOB C1704417 Familial hypercholesterolemia 2 NCBI curation 144010 Jan 15 2020 338 APOB C4551990 Hypobetalipoproteinemia, familial, 1 NCBI curation 615558 Feb 16 2016 344 APOC2 C1720779 Apolipoprotein C2 deficiency NCBI curation 207750 Feb 16 2016 345 APOC3 C3151467 Hyperalphalipoproteinemia 2 NCBI curation 614028 Feb 16 2016 348 APOE C0036489 Sea-blue histiocyte syndrome 269600 Feb 16 2016 348 APOE C1847200 Alzheimer disease, type 4 NCBI curation 606889 Feb 16 2016 348 APOE C1864205 Age-related macular degeneration 1 NCBI curation 603075 May 25 2016 348 APOE C1863051 Alzheimer disease 2 NCBI curation 104310 Mar 2 2016 348 APOE C0020479 Familial type 3 hyperlipoproteinemia NCBI curation 617347 Feb 16 2016 348 APOE C2673196 Lipoprotein glomerulopathy NCBI curation 611771 Feb 16 2016 8542 APOL1 C2675525 Focal segmental glomerulosclerosis 4, susceptibility to NCBI curation 612551 Feb 16 2016 23780 APOL2 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 80832 APOL4 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 351 APP C2751536 Cerebral amyloid angiopathy, APP-related NCBI curation 605714 Feb 16 2016 351 APP C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 Feb 19 2020 26060 APPL1 C4225299 Maturity-onset diabetes of the young, type 14 NCBI curation 616511 Feb 16 2016 353 APRT C0268120 Adenine phosphoribosyltransferase deficiency NCBI curation 614723 Feb 16 2016 54840 APTX C1859598 Ataxia-oculomotor apraxia type 1 Orphanet ORPHA1168 208920 Apr 6 2018 358 AQP1 C1292295 Colton Blood group system NCBI curation 110450 Feb 16 2016 359 AQP2 C1563706 Nephrogenic diabetes insipidus, autosomal NCBI curation 125800 Feb 16 2016 360 AQP3 C1843889 GIL BLOOD GROUP OMIM 607457 607457 Feb 16 2016 362 AQP5 C1838359 Palmoplantar keratoderma, Bothnian type MONDO MONDO:0010849 600231 Apr 17 2020 364 AQP7 C3280715 Glycerol release during exercise, defective NCBI curation 614411 Feb 16 2016 367 AR C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 367 AR C1839259 Bulbo-spinal atrophy X-linked 313200 Feb 16 2016 367 AR C0268301 Partial androgen insensitivity syndrome Orphanet ORPHA90797 312300 Aug 13 2017 367 AR C2678098 Hypospadias 1, X-linked NCBI curation 300633 Feb 16 2016 367 AR C0039585 Androgen resistance syndrome NCBI curation 300068 Aug 9 2017 372 ARCN1 C4310686 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay NCBI curation 617164 Jun 20 2017 375 ARF1 C4748602 PERIVENTRICULAR NODULAR HETEROTOPIA 8 OMIM 618185 618185 Nov 15 2018 10564 ARFGEF2 C1842563 Heterotopia, periventricular, autosomal recessive NCBI curation 608097 Feb 16 2016 383 ARG1 C0268548 Arginase deficiency 207800 Feb 16 2016 23092 ARHGAP26 C0349639 Juvenile myelomonocytic leukemia Human Phenotype Ontology HP:0012209 607785 Feb 16 2016 57514 ARHGAP31 C4551482 Adams-Oliver syndrome 1 NCBI curation 100300 Feb 16 2016 396 ARHGDIA C3808953 Nephrotic syndrome, type 8 NCBI curation 615244 Feb 16 2016 9138 ARHGEF1 C5193109 IMMUNODEFICIENCY 62 OMIM 618459 618459 Jun 7 2019 9639 ARHGEF10 C1842357 Slowed nerve conduction velocity, autosomal dominant NCBI curation 608236 Feb 16 2016 23370 ARHGEF18 C4479481 Retinitis pigmentosa 78 NCBI curation 617433 Jun 20 2017 9181 ARHGEF2 C4479613 Neurodevelopmental disorder with midbrain and hindbrain malformations NCBI curation 617523 Jun 20 2017 23229 ARHGEF9 C1845102 Early infantile epileptic encephalopathy 8 NCBI curation 300607 Feb 16 2016 8289 ARID1A C3553247 Mental retardation, autosomal dominant 14 NCBI curation 614607 Feb 16 2016 57492 ARID1B C3281201 Coffin-Siris syndrome 1 NCBI curation 135900 Sep 22 2016 196528 ARID2 C4540499 COFFIN-SIRIS SYNDROME 6 OMIM 617808 617808 Dec 15 2017 200894 ARL13B C2676771 Joubert syndrome 8 NCBI curation 612291 Feb 16 2016 23568 ARL2BP C4747737 Retinitis pigmentosa 82 with or without situs inversus NCBI curation 615434 Mar 8 2019 403 ARL3 C4748536 Retinitis pigmentosa 83 NCBI curation 618173 Mar 8 2019 403 ARL3 C4748442 JOUBERT SYNDROME 35 OMIM 618161 618161 Nov 1 2018 84100 ARL6 C1859564 Bardet-Biedl syndrome 3 600151 Feb 16 2016 84100 ARL6 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 84100 ARL6 C3150808 Retinitis pigmentosa 55 NCBI curation 613575 Feb 16 2016 84100 ARL6 C2936862 Bardet-Biedl syndrome 1 209900 Feb 16 2016 23204 ARL6IP1 C3810294 Spastic paraplegia 61, autosomal recessive NCBI curation 615685 Feb 16 2016 84071 ARMC2 C5193095 SPERMATOGENIC FAILURE 38 OMIM 618433 618433 May 17 2019 55130 ARMC4 C3809548 Primary ciliary dyskinesia 23 NCBI curation 615451 Feb 16 2016 79798 ARMC5 C4014803 Acth-independent macronodular adrenal hyperplasia 2 NCBI curation 615954 Feb 16 2016 80210 ARMC9 C4539937 JOUBERT SYNDROME 30 OMIM 617622 617622 Aug 17 2017 387715 ARMS2 C3151070 Age-related macular degeneration 8 NCBI curation 613778 Feb 16 2016 9915 ARNT2 C4014708 Webb-Dattani syndrome NCBI curation 615926 Feb 16 2016 10095 ARPC1B C4540232 PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE OMIM 617718 617718 Oct 29 2017 407 ARR3 C4538795 MYOPIA 26, X-LINKED, FEMALE-LIMITED OMIM 301010 301010 Dec 24 2017 410 ARSA C0023522 Metachromatic leukodystrophy 250100 Feb 16 2016 411 ARSB C0026709 Mucopolysaccharidosis type 6 MONDO MONDO:0009661 253200 Apr 17 2020 22901 ARSG C4748364 Usher syndrome, type 4 MONDO MONDO:0029141 618144 Apr 22 2020 415 ARSL C1844853 X-linked chondrodysplasia punctata 1 MONDO MONDO:0010555 302950 Apr 22 2020 420 ART4 C1292294 Blood group, Dombrock system NCBI curation 616060 Feb 16 2016 64801 ARV1 C4310762 Epileptic encephalopathy, early infantile, 38 NCBI curation 617020 Aug 24 2016 170302 ARX C0796124 Corpus callosum agenesis-abnormal genitalia syndrome MONDO MONDO:0010224 300004 Apr 17 2020 170302 ARX C0796250 Partington syndrome MONDO MONDO:0010654 309510 Apr 17 2020 170302 ARX C3463992 Epileptic encephalopathy, early infantile, 1 NCBI curation 308350 Feb 16 2016 170302 ARX C0796244 Mental retardation, with or without seizures, ARX-related, X-linked NCBI curation 300419 Feb 16 2016 170302 ARX C1846171 Lissencephaly 2, X-linked NCBI curation 300215 Feb 16 2016 427 ASAH1 C1834569 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO MONDO:0008045 159950 Apr 17 2020 427 ASAH1 C0268255 Farber disease Orphanet ORPHA333 228000 Apr 8 2018 136371 ASB10 C1863926 Glaucoma 1, open angle, F NCBI curation 603383 Feb 16 2016 51008 ASCC1 C0004763 Barrett esophagus Human Phenotype Ontology HP:0100580 614266 Apr 10 2018 51008 ASCC1 C4225176 Spinal muscular atrophy with congenital bone fractures 2 NCBI curation 616867 May 26 2016 429 ASCL1 C1275808 Congenital central hypoventilation NCBI curation 209880 Feb 16 2016 55870 ASH1L C4540478 Intellectual disability, autosomal dominant 52 MONDO MONDO:0030918 617796 Apr 17 2020 434 ASIP C2673200 Skin/hair/eye pigmentation, variation in, 9 NCBI curation 611742 Feb 16 2016 435 ASL C0268547 Argininosuccinate lyase deficiency 207900 Feb 16 2016 440 ASNS C3809971 Asparagine synthetase deficiency NCBI curation 615574 Feb 16 2016 443 ASPA C0206307 Spongy degeneration of central nervous system 271900 Feb 16 2016 444 ASPH C1832167 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs NCBI curation 601552 Aug 24 2016 259266 ASPM C1837501 Primary autosomal recessive microcephaly 5 NCBI curation 608716 Feb 16 2016 54829 ASPN C0158252 Intervertebral disc disorder 603932 Feb 16 2016 54829 ASPN C2675609 Osteoarthritis susceptibility 3 NCBI curation 607850 Feb 16 2016 79058 ASPSCR1 C0206657 Alveolar soft part sarcoma (disease) MONDO MONDO:0011655 606243 Apr 17 2020 445 ASS1 C4721769 Citrullinemia type I 215700 Feb 16 2016 171023 ASXL1 C3463824 Myelodysplastic syndrome NCBI curation 614286 Feb 16 2016 171023 ASXL1 C0796232 Bohring-Opitz syndrome MONDO MONDO:0011510 605039 Apr 17 2020 55252 ASXL2 C4310672 Shashi-Pena syndrome NCBI curation 617190 Jun 20 2017 80816 ASXL3 C3809650 Bainbridge-Ropers syndrome NCBI curation 615485 Feb 16 2016 84896 ATAD1 C4693933 HYPEREKPLEXIA 4 OMIM 618011 618011 Jun 10 2018 55210 ATAD3A C4310677 Harel-Yoon syndrome NCBI curation 617183 Jun 20 2017 55210 ATAD3A CN263387 PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL OMIM 618810 618810 Mar 25 2020 85300 ATCAY C1832585 Cerebellar ataxia, Cayman type NCBI curation 601238 Aug 16 2018 22926 ATF6 C4225297 Achromatopsia 7 NCBI curation 616517 Feb 16 2016 55054 ATG16L1 C1970207 Inflammatory bowel disease 10 NCBI curation 611081 Feb 16 2016 9474 ATG5 C4539808 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 OMIM 617584 617584 Jul 27 2017 471 ATIC C1837530 AICAR transformylase/IMP cyclohydrolase deficiency NCBI curation 608688 Feb 16 2016 51062 ATL1 C2931355 Hereditary spastic paraplegia 3A MONDO MONDO:0008437 182600 Apr 17 2020 51062 ATL1 C3150972 Hereditary sensory neuropathy type 1D NCBI curation 613708 Feb 16 2016 25923 ATL3 C3810194 Hereditary sensory neuropathy type IF NCBI curation 615632 Feb 16 2016 472 ATM C0004135 Ataxia-telangiectasia syndrome NCBI curation 208900 Nov 5 2019 472 ATM C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 1822 ATN1 C0751781 Dentatorubral-pallidoluysian atrophy MONDO MONDO:0007435 125370 Apr 22 2020 1822 ATN1 C5193125 CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM 618494 618494 Jul 14 2019 220202 ATOH7 C1969783 Persistent hyperplastic primary vitreous, autosomal recessive NCBI curation 221900 Feb 16 2016 286410 ATP11C C4746970 X-linked congenital hemolytic anemia MONDO MONDO:0060455 301015 Apr 22 2020 23400 ATP13A2 C4310662 Spastic paraplegia 78, autosomal recessive NCBI curation 617225 Jun 20 2017 23400 ATP13A2 C1847640 Kufor-Rakeb syndrome MONDO MONDO:0011706 606693 Apr 22 2020 476 ATP1A1 C4747974 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD OMIM 618036 618036 Jun 30 2018 476 ATP1A1 C5193023 Hypomagnesemia, seizures, and mental retardation 2 NCBI curation 618314 Dec 29 2019 477 ATP1A2 C3549447 Alternating hemiplegia of childhood 1 NCBI curation 104290 Feb 16 2016 477 ATP1A2 C1865322 Familial hemiplegic migraine type 2 NCBI curation 602481 Feb 16 2016 478 ATP1A3 C3553788 Alternating hemiplegia of childhood 2 NCBI curation 614820 Feb 16 2016 478 ATP1A3 C1832466 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO MONDO:0011038 601338 Apr 17 2020 478 ATP1A3 C1868681 Dystonia 12 128235 Feb 16 2016 481 ATP1B1 C0085580 Essential hypertension 145500 Feb 16 2016 487 ATP2A1 C1832918 Brody myopathy 601003 Feb 16 2016 488 ATP2A2 C0022595 Keratosis follicularis 124200 Feb 16 2016 488 ATP2A2 C0265971 Acrokeratosis verruciformis of Hopf 101900 Feb 16 2016 491 ATP2B2 C1832394 Deafness, autosomal recessive 12 NCBI curation 601386 Feb 16 2016 492 ATP2B3 C0796205 Spinocerebellar ataxia, X-linked 1 NCBI curation 302500 Feb 16 2016 27032 ATP2C1 C0085106 Familial benign pemphigus 169600 Feb 16 2016 498 ATP5F1A C3808899 Mitochondrial complex v (atp synthase) deficiency, nuclear type 4 NCBI curation 615228 Aug 24 2016 498 ATP5F1A C4015062 Combined oxidative phosphorylation deficiency 22 NCBI curation 616045 Feb 16 2016 513 ATP5F1D C4748269 Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 MONDO MONDO:0020858 618120 Apr 17 2020 514 ATP5F1E C3279708 Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 NCBI curation 614053 Feb 16 2016 84833 ATP5MD C5231461 Mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6 MONDO MONDO:0032869 618683 May 27 2020 537 ATP6AP1 C4310819 Immunodeficiency 47 NCBI curation 300972 Jul 3 2016 10159 ATP6AP2 CN280849 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr OMIM 301045 301045 Apr 23 2020 10159 ATP6AP2 C1845543 Mental retardation, X-linked, syndromic, Hedera type NCBI curation 300423 Feb 16 2016 10159 ATP6AP2 C3806722 Parkinsonism with spasticity, X-linked NCBI curation 300911 Feb 16 2016 23545 ATP6V0A2 C0406587 Wrinkly skin syndrome NCBI curation 278250 Feb 16 2016 23545 ATP6V0A2 C0268355 Cutis laxa with osteodystrophy 219200 Feb 16 2016 50617 ATP6V0A4 C1864498 Renal tubular acidosis, distal, autosomal recessive 602722 Feb 16 2016 523 ATP6V1A C4693934 Epileptic encephalopathy, infantile or early childhood 3 NCBI curation 618012 Dec 29 2019 523 ATP6V1A C4479409 Autosomal recessive cutis laxa type 2d MONDO MONDO:0027451 617403 Apr 22 2020 525 ATP6V1B1 C0403554 Renal tubular acidosis with progressive nerve deafness 267300 Feb 16 2016 526 ATP6V1B2 C4225321 Zimmermann-Laband syndrome 2 NCBI curation 616455 May 26 2016 526 ATP6V1B2 C2675730 Deafness, congenital, with onychodystrophy, autosomal dominant NCBI curation 124480 Aug 24 2016 529 ATP6V1E1 C4479387 Autosomal recessive cutis laxa type 2c MONDO MONDO:0027462 617402 Apr 22 2020 538 ATP7A C1845359 Distal spinal muscular atrophy, X-linked 3 NCBI curation 300489 Feb 16 2016 538 ATP7A C0022716 Menkes kinky-hair syndrome 309400 Feb 16 2016 538 ATP7A C0268353 Cutis laxa, X-linked 304150 Feb 16 2016 540 ATP7B C0019202 Wilson disease NCBI curation 277900 Nov 5 2016 51761 ATP8A2 C3808977 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 NCBI curation 615268 Feb 16 2016 5205 ATP8B1 C4551898 Cholestasis, progressive familial intrahepatic 1 NCBI curation 211600 Jan 25 2020 5205 ATP8B1 C3549845 Cholestasis of pregnancy 147480 Feb 16 2016 5205 ATP8B1 C4551899 Cholestasis, benign recurrent intrahepatic 1 NCBI curation 243300 May 26 2016 91647 ATPAF2 C3276276 Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 NCBI curation 604273 Feb 16 2016 545 ATR C3281203 Cutaneous telangiectasia and cancer syndrome, familial NCBI curation 614564 Feb 16 2016 545 ATR C4551474 Seckel syndrome 1 NCBI curation 210600 Feb 16 2016 546 ATRX C0796003 Mental retardation-hypotonic facies syndrome X-linked, 1 309580 Feb 16 2016 546 ATRX C0585216 Acquired hemoglobin H disease NCBI curation 300448 Feb 16 2016 546 ATRX C1845055 Alpha thalassemia-X-linked intellectual disability syndrome MONDO MONDO:0010519 301040 Apr 22 2020 6310 ATXN1 C0752120 Spinocerebellar ataxia type 1 MONDO MONDO:0008119 164400 Apr 22 2020 25814 ATXN10 C1963674 Spinocerebellar ataxia type 10 MONDO MONDO:0011330 603516 Apr 22 2020 6311 ATXN2 C0752121 Spinocerebellar ataxia type 2 MONDO MONDO:0008458 183090 Apr 22 2020 6311 ATXN2 C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 4287 ATXN3 C0024408 Azorean disease 109150 Feb 16 2016 6314 ATXN7 C0752125 Spinocerebellar ataxia 7 NCBI curation 164500 May 16 2016 724066 ATXN8 C1837454 Spinocerebellar ataxia type 8 MONDO MONDO:0012116 608768 Apr 22 2020 6315 ATXN8OS C1837454 Spinocerebellar ataxia type 8 MONDO MONDO:0012116 608768 Apr 22 2020 6315 ATXN8OS C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 549 AUH C0342727 3-Methylglutaconic aciduria type 1 NCBI curation 250950 Jul 25 2018 6790 AURKA C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 6795 AURKC C0403812 Infertility associated with multi-tailed spermatozoa and excessive DNA 243060 Feb 16 2016 26053 AUTS2 C4014435 Mental retardation, autosomal dominant 26 NCBI curation 615834 Feb 16 2016 10677 AVIL C5231498 NEPHROTIC SYNDROME, TYPE 21 OMIM 618594 618594 Sep 27 2019 551 AVP C0687720 Neurohypophyseal diabetes insipidus Human Phenotype Ontology HP:0000863 125700 Apr 10 2018 554 AVPR2 C1563705 Nephrogenic diabetes insipidus, X-linked NCBI curation 304800 Feb 16 2016 554 AVPR2 C1845202 Nephrogenic syndrome of inappropriate antidiuresis NCBI curation 300539 Feb 16 2016 8312 AXIN1 C1842884 Caudal duplication anomaly NCBI curation 607864 Feb 16 2016 8312 AXIN1 C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 8313 AXIN2 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 8313 AXIN2 C1837750 Oligodontia-colorectal cancer syndrome NCBI curation 608615 Feb 16 2016 558 AXL C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 567 B2M C1855796 Hypoproteinemia, hypercatabolic NCBI curation 241600 Feb 16 2016 567 B2M C0268389 Familial visceral amyloidosis, Ostertag type NCBI curation 105200 Feb 16 2016 8706 B3GALNT1 C3549485 p phenotype NCBI curation 111400 Feb 16 2016 8706 B3GALNT1 C3539121 Blood group, globoside system NCBI curation 615021 Feb 16 2016 148789 B3GALNT2 C3554638 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 NCBI curation 615181 Aug 24 2016 126792 B3GALT6 C4017377 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NCBI curation 271640 Feb 6 2020 126792 B3GALT6 C3809210 Ehlers-Danlos syndrome, progeroid type, 2 NCBI curation 615349 Feb 16 2016 126792 B3GALT6 C1836121 Al-Gazali syndrome MONDO MONDO:0012282 609465 Apr 22 2020 26229 B3GAT3 C3278404 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NCBI curation 245600 Feb 16 2016 145173 B3GLCT C0796012 Peters plus syndrome 261540 Feb 16 2016 2583 B4GALNT1 C1836632 Hereditary spastic paraplegia 26 MONDO MONDO:0012213 609195 Apr 17 2020 2683 B4GALT1 C2931009 B4GALT1-CDG MONDO MONDO:0011772 607091 Apr 17 2020 11285 B4GALT7 C4552003 Ehlers-Danlos syndrome progeroid type 130070 Feb 16 2016 11041 B4GAT1 C3809042 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 NCBI curation 615287 Aug 24 2016 27077 B9D1 C3280155 Meckel syndrome, type 9 NCBI curation 614209 Feb 16 2016 27077 B9D1 C4310706 Joubert syndrome 27 NCBI curation 617120 Jun 20 2017 80776 B9D2 C3280036 Meckel syndrome, type 10 NCBI curation 614175 Feb 16 2016 570 BAAT C1843139 Hypercholanemia, familial NCBI curation 607748 Feb 16 2016 60468 BACH2 C5193072 IMMUNODEFICIENCY 60 OMIM 618394 618394 Apr 19 2019 9531 BAG3 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 9531 BAG3 C3151293 Dilated cardiomyopathy 1HH NCBI curation 613881 Feb 16 2016 9531 BAG3 C2751831 Myofibrillar myopathy, BAG3-related NCBI curation 612954 Feb 16 2016 8815 BANF1 C3151446 Nestor-Guillermo progeria syndrome NCBI curation 614008 Feb 16 2016 8314 BAP1 C3280492 Tumor susceptibility linked to germline BAP1 mutations Orphanet ORPHA289539 614327 Aug 9 2016 580 BARD1 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 581 BAX C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 581 BAX C0023449 Acute lymphoid leukemia NCBI curation 613065 Sep 22 2016 92482 BBIP1 C3806174 Bardet-Biedl syndrome 18 NCBI curation 615995 Feb 16 2016 582 BBS1 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 Feb 16 2016 582 BBS1 C2936862 Bardet-Biedl syndrome 1 209900 Feb 16 2016 79738 BBS10 C1859568 Bardet-Biedl syndrome 10 615987 Feb 16 2016 166379 BBS12 C1859570 Bardet-Biedl syndrome 12 615989 Feb 16 2016 583 BBS2 C2936863 Bardet-Biedl syndrome 2 615981 Feb 16 2016 583 BBS2 C4225281 Retinitis pigmentosa 74 NCBI curation 616562 Feb 16 2016 585 BBS4 C2936864 Bardet-Biedl syndrome 4 NCBI curation 615982 May 22 2020 585 BBS4 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 Feb 16 2016 129880 BBS5 C3892039 Bardet-Biedl syndrome 5 NCBI curation 615983 Feb 16 2016 55212 BBS7 C1859565 Bardet-Biedl syndrome 7 615984 Feb 16 2016 27241 BBS9 C1859567 Bardet-Biedl syndrome 9 615986 Feb 16 2016 4059 BCAM C0024171 BLOOD GROUP--LUTHERAN SYSTEM OMIM 111200 111200 Feb 16 2016 4059 BCAM C1292230 LuLu phenotype NCBI curation 247420 Feb 16 2016 10134 BCAP31 C3806634 Chromosome Xq28 deletion syndrome NCBI curation 300475 Feb 16 2016 587 BCAT2 CN280851 Hypervalinemia and hyperleucine-isoleucinemia MONDO MONDO:0100058 618850 Apr 17 2020 590 BCHE C1283400 Deficiency of butyrylcholine esterase NCBI curation 617936 Feb 16 2016 593 BCKDHA C0024776 Maple syrup urine disease OMIM phenotypic series PS248600 248600 Feb 16 2016 593 BCKDHA C0024776 Maple syrup urine disease Orphanet ORPHA511 248600 Feb 16 2016 594 BCKDHB C0024776 Maple syrup urine disease OMIM phenotypic series PS248600 248600 Feb 16 2016 594 BCKDHB C0024776 Maple syrup urine disease Orphanet ORPHA511 248600 Feb 16 2016 594 BCKDHB C2930990 Maple syrup urine disease type 1B Feb 16 2016 10295 BCKDK C3554078 Branched-chain keto acid dehydrogenase kinase deficiency NCBI curation 614923 Aug 24 2016 8915 BCL10 C4721532 Non-Hodgkin lymphoma Human Phenotype Ontology HP:0012539 605027 Jul 6 2018 8915 BCL10 C4015195 Immunodeficiency 37 NCBI curation 616098 Feb 16 2016 8915 BCL10 C0153594 Malignant tumor of testis NCBI curation 273300 Feb 16 2016 8915 BCL10 C0345967 Mesothelioma, malignant 156240 Feb 16 2016 8915 BCL10 C1850900 Gastric lymphoma Human Phenotype Ontology HP:0045038 137245 Feb 16 2016 53335 BCL11A C4310833 Intellectual developmental disorder with persistence of fetal hemoglobin NCBI curation 617101 Jun 20 2017 64919 BCL11B C4748152 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES OMIM 618092 618092 Aug 30 2018 64919 BCL11B C4310656 Immunodeficiency 49 NCBI curation 617237 Jun 20 2017 53630 BCO1 C2676023 Hypercarotenemia and vitamin a deficiency, autosomal dominant NCBI curation 115300 Feb 16 2016 54880 BCOR C1846265 Oculofaciocardiodental syndrome 300166 Feb 16 2016 54880 BCOR C0796016 Lenz microphthalmia syndrome 309800 Feb 16 2016 63035 BCORL1 C5193146 SHUKLA-VERNON SYNDROME OMIM 301029 301029 Jul 27 2019 613 BCR C0023449 Acute lymphoid leukemia NCBI curation 613065 Sep 22 2016 613 BCR C0023473 Chronic myelogenous leukemia, BCR-ABL1 positive MONDO MONDO:0011996 608232 Apr 17 2020 617 BCS1L C3541471 Mitochondrial complex III deficiency, nuclear type 1 NCBI curation 124000 Dec 28 2019 617 BCS1L C0023264 Leigh syndrome Orphanet ORPHA506 256000 Feb 16 2016 617 BCS1L C0266006 Pili torti-deafness syndrome 262000 Feb 16 2016 617 BCS1L C1864002 GRACILE syndrome 603358 Feb 16 2016 55814 BDP1 C4748855 DEAFNESS, AUTOSOMAL RECESSIVE 112 OMIM 618257 618257 Dec 16 2018 146227 BEAN1 C1861736 Spinocerebellar ataxia type 31 MONDO MONDO:0007296 117210 Apr 22 2020 7439 BEST1 C2745945 Vitelliform macular dystrophy type 2 NCBI curation 153700 Nov 6 2016 7439 BEST1 C2750788 Retinitis pigmentosa 50 NCBI curation 613194 Feb 16 2016 7439 BEST1 C3888099 Vitreoretinochoroidopathy NCBI curation 193220 Nov 6 2016 7439 BEST1 C3888198 Bestrophinopathy, autosomal recessive NCBI curation 611809 Feb 16 2016 631 BFSP1 C3808107 Cataract 33, multiple types NCBI curation 611391 Dec 26 2017 8419 BFSP2 C3808115 Cataract 12, multiple types NCBI curation 611597 Dec 26 2017 633 BGN C4310811 Meester-loeys syndrome NCBI curation 300989 Jun 20 2017 633 BGN C1848097 X-linked spondyloepimetaphyseal dysplasia MONDO MONDO:0010248 300106 Apr 22 2020 727857 BHLHA9 C1843758 Camptosynpolydactyly, complex NCBI curation 607539 Feb 16 2016 727857 BHLHA9 C1836206 Mesoaxial synostotic syndactyly with phalangeal reduction MONDO MONDO:0012271 609432 Apr 22 2020 79365 BHLHE41 C5200932 Short sleep, familial natural, 1 NCBI curation 612975 Jan 2 2020 80114 BICC1 C3275898 Renal dysplasia, cystic, susceptibility to MONDO MONDO:0011037 601331 Apr 22 2020 23299 BICD2 C4749003 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT OMIM 618291 618291 Feb 1 2019 23299 BICD2 C4747715 Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant NCBI curation 615290 Aug 9 2019 274 BIN1 C0410204 Autosomal recessive centronuclear myopathy 255200 Feb 16 2016 640 BLK C3150618 Maturity-onset diabetes of the young, type 11 NCBI curation 613375 Feb 16 2016 641 BLM C0005859 Bloom syndrome 210900 Feb 16 2016 29760 BLNK C3150752 Agammaglobulinemia 4, autosomal recessive NCBI curation 613502 Feb 16 2016 388552 BLOC1S3 C3888026 Hermansky-Pudlak syndrome 8 NCBI curation 614077 Feb 16 2016 26258 BLOC1S6 C3280026 Hermansky-Pudlak syndrome 9 NCBI curation 614171 Feb 16 2016 644 BLVRA C3279964 Hyperbiliverdinemia NCBI curation 614156 Feb 16 2016 649 BMP1 C3553887 Osteogenesis imperfecta, type xiii NCBI curation 614856 Aug 24 2016 9210 BMP15 C1845294 Ovarian dysgenesis 2 NCBI curation 300510 Feb 16 2016 650 BMP2 C1832702 Brachydactyly type A2 MONDO MONDO:0007216 112600 Apr 22 2020 650 BMP2 C4693481 SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES OMIM 617877 617877 Feb 18 2018 650 BMP2 C3469186 Hemochromatosis type 1 NCBI curation 235200 Feb 16 2016 652 BMP4 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 652 BMP4 C2677434 Orofacial cleft 11 NCBI curation 600625 Feb 16 2016 652 BMP4 C1864689 Microphthalmia with brain and digit anomalies MONDO MONDO:0011936 607932 Apr 17 2020 168667 BMPER C1842691 Diaphanospondylodysostosis NCBI curation 608022 Feb 16 2016 657 BMPR1A C1864730 Hereditary mixed polyposis syndrome 2 NCBI curation 610069 Feb 16 2016 657 BMPR1A C0345893 Juvenile polyposis syndrome NCBI curation 174900 Feb 16 2016 658 BMPR1B C4225404 Acromesomelic dysplasia, Demirhan type NCBI curation 609441 Dec 24 2017 658 BMPR1B C1832702 Brachydactyly type A2 MONDO MONDO:0007216 112600 Apr 22 2020 658 BMPR1B C4225183 Brachydactyly, type a1, d NCBI curation 616849 May 26 2016 659 BMPR2 C4552070 Primary pulmonary hypertension 178600 Feb 16 2016 659 BMPR2 C3887658 Pulmonary venoocclusive disease 1, autosomal dominant NCBI curation 265450 Dec 25 2019 9790 BMS1 C0282160 Aplasia cutis congenita (disease) MONDO MONDO:0007145 107600 Apr 17 2020 646 BNC1 C5231474 PREMATURE OVARIAN FAILURE 16 OMIM 618723 618723 Dec 29 2019 54796 BNC2 C5231427 LOWER URINARY TRACT OBSTRUCTION, CONGENITAL OMIM 618612 618612 Oct 6 2019 388962 BOLA3 C3280378 Multiple mitochondrial dysfunctions syndrome 2 NCBI curation 614299 Feb 16 2016 669 BPGM C1291620 Deficiency of bisphosphoglycerate mutase NCBI curation 222800 Feb 16 2016 54928 BPNT2 C3279757 Chondrodysplasia with joint dislocations, GPAPP type NCBI curation 614078 Feb 16 2016 2186 BPTF C4540327 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES OMIM 617755 617755 Nov 9 2017 9083 BPY2 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 673 BRAF CN239577 Vemurafenib response NCBI curation Dec 23 2016 673 BRAF C4551602 Noonan syndrome 1 NCBI curation 163950 Apr 27 2020 673 BRAF C3150970 Noonan syndrome 7 NCBI curation 613706 Feb 16 2016 673 BRAF C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 673 BRAF CN239586 Dabrafenib response NCBI curation Dec 27 2016 673 BRAF CN029449 Cardiofaciocutaneous syndrome 1 NCBI curation 115150 Feb 16 2016 673 BRAF C3150971 LEOPARD syndrome 3 NCBI curation 613707 Feb 16 2016 221927 BRAT1 C4748032 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES OMIM 618056 618056 Aug 4 2018 221927 BRAT1 C3281029 Rigidity and multifocal seizure syndrome, lethal neonatal NCBI curation 614498 Feb 16 2016 672 BRCA1 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 672 BRCA1 C2676676 Breast-ovarian cancer, familial 1 NCBI curation 604370 Feb 16 2016 672 BRCA1 C4554406 FANCONI ANEMIA, COMPLEMENTATION GROUP S OMIM 617883 617883 Mar 9 2018 672 BRCA1 C3280442 Pancreatic cancer 4 NCBI curation 614320 Feb 16 2016 672 BRCA1 C0677776 Hereditary breast and ovarian cancer syndrome Orphanet ORPHA145 Feb 16 2016 675 BRCA2 C0677776 Hereditary breast and ovarian cancer syndrome Orphanet ORPHA145 Feb 16 2016 675 BRCA2 C2675520 Breast-ovarian cancer, familial 2 NCBI curation 612555 Feb 16 2016 675 BRCA2 CN033288 Wilms tumor 1 NCBI curation 194070 Feb 16 2016 675 BRCA2 C1838457 Fanconi anemia, complementation group D1 NCBI curation 605724 Feb 16 2016 675 BRCA2 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 675 BRCA2 C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 675 BRCA2 C0025149 Medulloblastoma Human Phenotype Ontology HP:0002885 155255 Feb 16 2016 675 BRCA2 C2751641 Glioma susceptibility 3 NCBI curation 613029 Feb 16 2016 675 BRCA2 C3150546 Pancreatic cancer 2 NCBI curation 613347 Feb 16 2016 676 BRDT C4539991 SPERMATOGENIC FAILURE 21 OMIM 617644 617644 Aug 31 2017 2972 BRF1 C4015495 Cerebellofaciodental syndrome NCBI curation 616202 Feb 16 2016 83990 BRIP1 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 83990 BRIP1 C1836860 Fanconi anemia, complementation group J NCBI curation 609054 Feb 16 2016 7862 BRPF1 C4310617 Intellectual developmental disorder with dysmorphic facies and ptosis NCBI curation 617333 Jun 20 2017 254065 BRWD3 C1970841 Mental retardation, X-linked 93 NCBI curation 300659 Feb 16 2016 26580 BSCL2 C1720863 Congenital generalized lipodystrophy type 2 269700 Feb 16 2016 26580 BSCL2 C2931276 Spastic paraplegia 17 NCBI curation 270685 Dec 5 2019 26580 BSCL2 C4014700 Encephalopathy, progressive, with or without lipodystrophy NCBI curation 615924 Feb 16 2016 26580 BSCL2 C1833308 Distal hereditary motor neuronopathy type 5 NCBI curation 600794 Feb 16 2016 682 BSG C1862209 BLOOD GROUP--OK OMIM 111380 111380 Feb 16 2016 7809 BSND C1865270 Bartter disease type 4a MONDO MONDO:0011242 602522 Apr 17 2020 686 BTD C0220754 Biotinidase deficiency NCBI curation 253260 Feb 16 2016 695 BTK C0221026 X-linked agammaglobulinemia 300755 Feb 16 2016 695 BTK C0472813 X-linked agammaglobulinemia with growth hormone deficiency 307200 Feb 16 2016 56244 BTNL2 C2676468 Sarcoidosis 2 NCBI curation 612387 Feb 16 2016 699 BUB1 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 701 BUB1B C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 701 BUB1B CN031748 Mosaic variegated aneuploidy syndrome 1 NCBI curation 257300 Aug 16 2017 701 BUB1B C1864389 Premature chromatid separation trait NCBI curation 176430 Feb 16 2016 11149 BVES C4225199 Muscular dystrophy, limb-girdle, type 2X NCBI curation 616812 Aug 24 2016 79703 C11orf80 C5193094 HYDATIDIFORM MOLE, RECURRENT, 4 OMIM 618432 618432 May 17 2019 57102 C12orf4 C4748732 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 OMIM 618221 618221 Dec 8 2018 113246 C12orf57 C1857512 Temtamy syndrome 218340 Feb 16 2016 91574 C12orf65 C3539506 Spastic paraplegia 55, autosomal recessive NCBI curation 615035 Feb 16 2016 91574 C12orf65 C3150801 Combined oxidative phosphorylation deficiency 7 NCBI curation 613559 Feb 16 2016 83636 C19orf12 C2680446 Spastic paraplegia 43, autosomal recessive NCBI curation 615043 Feb 16 2016 83636 C19orf12 C3280371 Neurodegeneration with brain iron accumulation 4 NCBI curation 614298 Oct 29 2017 29071 C1GALT1C1 C0272137 Polyagglutinable erythrocyte syndrome 300622 Feb 16 2016 712 C1QA C3150902 C1q deficiency NCBI curation 613652 Feb 16 2016 713 C1QB C3150902 C1q deficiency NCBI curation 613652 Feb 16 2016 708 C1QBP C4540209 Combined oxidative phosphorylation deficiency 33 NCBI curation 617713 Feb 25 2019 714 C1QC C3150902 C1q deficiency NCBI curation 613652 Feb 16 2016 114902 C1QTNF5 C1854065 Late-onset retinal degeneration NCBI curation 605670 Feb 16 2016 715 C1R C4551499 Ehlers-Danlos syndrome, type 8 130080 Feb 16 2016 716 C1S C4310681 Ehlers-Danlos syndrome, periodontal type, 2 NCBI curation 617174 Jun 20 2017 716 C1S C3151078 Complement component c1s deficiency NCBI curation 613783 Feb 16 2016 717 C2 C3150275 Complement component 2 deficiency 217000 Feb 16 2016 717 C2 C3809653 Age-related macular degeneration 14 NCBI curation 615489 Feb 16 2016 26005 C2CD3 C4014780 Orofaciodigital syndrome xiv NCBI curation 615948 Feb 16 2016 718 C3 C3151071 Complement component 3 deficiency, autosomal recessive NCBI curation 613779 Feb 16 2016 718 C3 C2752037 Atypical hemolytic-uremic syndrome 5 NCBI curation 612925 Feb 16 2016 718 C3 C1969651 Age-related macular degeneration 9 NCBI curation 611378 Feb 16 2016 720 C4A C1852692 Complement component 4a deficiency NCBI curation 614380 Feb 16 2016 720 C4A C1292315 Blood group, Chido/Rodgers system NCBI curation 614374 Feb 16 2016 721 C4B C3280641 Complement component 4b deficiency MONDO MONDO:0013720 614379 Apr 22 2020 727 C5 C0343047 Leiner disease 609536 Feb 16 2016 727 C5 C3810402 Eculizumab, poor response to NCBI curation 615749 Feb 16 2016 729 C6 C2676232 Complement component 6 deficiency NCBI curation 612446 Feb 16 2016 730 C7 C1864694 Complement component 7 deficiency NCBI curation 610102 Feb 16 2016 731 C8A C3151081 Type i complement component 8 deficiency MONDO MONDO:0013422 613790 Apr 22 2020 732 C8B C3151080 Type II complement component 8 deficiency MONDO MONDO:0013421 613789 Apr 22 2020 157657 C8orf37 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 157657 C8orf37 C3281045 Cone-rod dystrophy 16 NCBI curation 614500 Feb 16 2016 157657 C8orf37 C4319932 Bardet-Biedl syndrome 21 NCBI curation 617406 Jun 21 2017 735 C9 C3151189 Complement component 9 deficiency NCBI curation 613825 Feb 16 2016 735 C9 C3810042 Macular degeneration, age-related, 15 NCBI curation 615591 Aug 24 2016 203228 C9orf72 C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 Feb 16 2016 203228 C9orf72 C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 Feb 16 2016 203228 C9orf72 C3888102 Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 NCBI curation 105550 Dec 5 2016 771 CA12 C1840437 Hyperchlorhidrosis, isolated NCBI curation 143860 Feb 16 2016 760 CA2 C0345407 Osteopetrosis with renal tubular acidosis 259730 Feb 16 2016 762 CA4 C1833245 Retinitis pigmentosa 17 NCBI curation 600852 Feb 16 2016 763 CA5A C3810404 Carbonic anhydrase VA deficiency, hyperammonemia due to NCBI curation 615751 Feb 16 2016 767 CA8 C2750509 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 NCBI curation 613227 Feb 16 2016 51475 CABP2 C3888355 Deafness, autosomal recessive 93 NCBI curation 614899 Feb 16 2016 57010 CABP4 C4041558 Congenital stationary night blindness, type 2B NCBI curation 610427 Feb 16 2016 773 CACNA1A C1832884 Familial hemiplegic migraine type 1 NCBI curation 141500 Feb 16 2016 773 CACNA1A C1720416 Episodic ataxia type 2 108500 Feb 16 2016 773 CACNA1A C0752124 Spinocerebellar ataxia type 6 MONDO MONDO:0008457 183086 Apr 22 2020 773 CACNA1A C4310716 Epileptic encephalopathy, early infantile, 42 NCBI curation 617106 Jun 20 2017 774 CACNA1B C5193128 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS OMIM 618497 618497 Jul 17 2019 775 CACNA1C CN260585 Long QT syndrome 8 NCBI curation 618447 Jul 10 2019 775 CACNA1C C2678478 Brugada syndrome 3 NCBI curation 611875 Jun 26 2020 775 CACNA1C C1832916 Timothy syndrome NCBI curation 601005 Feb 16 2016 776 CACNA1D C3554018 Sinoatrial node dysfunction and deafness NCBI curation 614896 Feb 16 2016 776 CACNA1D C3809609 Primary aldosteronism, seizures, and neurologic abnormalities NCBI curation 615474 Feb 16 2016 777 CACNA1E C4748988 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 OMIM 618285 618285 Jan 20 2019 778 CACNA1F C1848172 Congenital stationary night blindness, type 2A NCBI curation 300071 Feb 16 2016 778 CACNA1F C0268505 Ocular albinism, type II 300600 Feb 16 2016 778 CACNA1F C1845407 X-linked cone-rod dystrophy 3 MONDO MONDO:0010335 300476 Apr 22 2020 8913 CACNA1G C4748120 SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS OMIM 618087 618087 Aug 16 2018 8913 CACNA1G C4225205 Spinocerebellar ataxia 42 NCBI curation 616795 Feb 16 2016 8912 CACNA1H C2749872 Epilepsy, childhood absence 6 NCBI curation 611942 Feb 16 2016 8912 CACNA1H C4310756 Hyperaldosteronism, familial, type IV NCBI curation 617027 Aug 24 2016 779 CACNA1S C2749982 Thyrotoxic periodic paralysis, susceptibility to, 1 NCBI curation 188580 Jan 20 2020 779 CACNA1S C3714580 Hypokalemic periodic paralysis 1 NCBI curation 170400 Feb 16 2016 779 CACNA1S C1866077 Malignant hyperthermia, susceptibility to, 5 MONDO MONDO:0011163 601887 Apr 22 2020 9254 CACNA2D2 C5193132 CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY OMIM 618501 618501 Jul 24 2019 93589 CACNA2D4 C1864849 Retinal cone dystrophy 4 610478 Feb 16 2016 783 CACNB2 C2678477 Brugada syndrome 4 611876 Feb 16 2016 785 CACNB4 C1866039 Episodic ataxia, type 5 NCBI curation 613855 Feb 16 2016 785 CACNB4 C2750887 Epilepsy, idiopathic generalized 9 NCBI curation 607682 Feb 16 2016 10369 CACNG2 C3280284 Mental retardation, autosomal dominant 10 NCBI curation 614256 Feb 16 2016 790 CAD C4225320 Epileptic encephalopathy, early infantile, 50 NCBI curation 616457 Jun 20 2017 799 CALCR C0029458 Postmenopausal osteoporosis NCBI curation 166710 Jul 6 2018 10203 CALCRL C5231496 LYMPHATIC MALFORMATION 8 OMIM 618773 618773 Feb 14 2020 801 CALM1 C3554047 Ventricular tachycardia, catecholaminergic polymorphic, 4 NCBI curation 614916 Feb 16 2016 801 CALM1 C4015671 Long QT syndrome 14 NCBI curation 616247 Feb 16 2016 805 CALM2 C4015695 Long QT syndrome 15 NCBI curation 616249 Feb 16 2016 808 CALM3 CN263287 LONG QT SYNDROME 16 OMIM 618782 618782 Feb 21 2020 811 CALR C0001815 Myelofibrosis Human Phenotype Ontology HP:0011974 254450 Feb 16 2016 811 CALR C3277671 Thrombocythemia 1 NCBI curation 187950 Dec 22 2019 815 CAMK2A C4540481 Intellectual disability, autosomal dominant 53 MONDO MONDO:0030919 617798 Apr 17 2020 815 CAMK2A C4748167 Intellectual disability, autosomal recessive 63 MONDO MONDO:0054861 618095 Apr 17 2020 816 CAMK2B C4540484 Intellectual disability, autosomal dominant 54 MONDO MONDO:0030920 617799 Apr 17 2020 818 CAMK2G C5193140 INTELLECTUAL DEVELOPMENTAL DISORDER 59 OMIM 618522 618522 Aug 1 2019 23261 CAMTA1 C3553661 Cerebellar ataxia, nonprogressive, with mental retardation NCBI curation 614756 Feb 16 2016 124583 CANT1 C4540251 EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 OMIM 617719 617719 Oct 16 2017 124583 CANT1 C4012146 Desbuquois dysplasia 1 NCBI curation 251450 Oct 23 2016 823 CAPN1 C4310800 Spastic paraplegia 76, autosomal recessive NCBI curation 616907 Jun 22 2016 11132 CAPN10 C1832544 Diabetes mellitus, noninsulin-dependent, 1 NCBI curation 601283 Feb 16 2016 825 CAPN3 C1869123 Limb-girdle muscular dystrophy, type 2A NCBI curation 253600 Mar 6 2016 825 CAPN3 C4748295 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 OMIM 618129 618129 Sep 27 2018 726 CAPN5 C0242852 Vitreoretinopathy, neovascular inflammatory NCBI curation 193235 Feb 16 2016 84433 CARD11 C4539957 IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS OMIM 617638 617638 Aug 24 2017 84433 CARD11 C3554686 Immunodeficiency 11 NCBI curation 615206 Aug 24 2016 84433 CARD11 C4551967 B-cell expansion with NFKB and T-cell anergy NCBI curation 616452 Feb 16 2016 79092 CARD14 C1864497 Psoriasis susceptibility 2 NCBI curation 602723 Feb 16 2016 79092 CARD14 C0032027 Pityriasis rubra pilaris 173200 Feb 16 2016 64170 CARD9 C1859353 Candidiasis, familial, 2 NCBI curation 212050 Feb 16 2016 146206 CARMIL2 C4748304 Severe combined immunodeficiency due to CARMIL2 deficiency MONDO MONDO:0029134 618131 Apr 17 2020 833 CARS1 CN280942 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME OMIM 618891 618891 May 23 2020 79587 CARS2 C4225251 Combined oxidative phosphorylation deficiency 27 NCBI curation 616672 Feb 16 2016 9607 CARTPT C0028754 Obesity NCBI curation 601665 Feb 16 2016 8573 CASK C2720289 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NCBI curation 300908 Feb 16 2016 8573 CASK C1845546 FG syndrome 4 300422 Feb 16 2016 8573 CASK C2677903 Mental retardation and microcephaly with pontine and cerebellar hypoplasia NCBI curation 300749 Feb 16 2016 843 CASP10 C1858968 Autoimmune lymphoproliferative syndrome, type 2A NCBI curation 603909 Dec 24 2017 843 CASP10 C0038356 Neoplasm of stomach NCBI curation 613659 Feb 16 2016 843 CASP10 C4721532 Non-Hodgkin lymphoma Human Phenotype Ontology HP:0012539 605027 Jul 6 2018 23581 CASP14 C0020758 Congenital ichthyosis of skin NCBI curation Feb 16 2016 23581 CASP14 C4310621 Ichthyosis, congenital, autosomal recessive 12 NCBI curation 617320 Jun 20 2017 841 CASP8 C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 841 CASP8 C1846545 Autoimmune lymphoproliferative syndrome type 2B MONDO MONDO:0011804 607271 Apr 22 2020 841 CASP8 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 841 CASP8 C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 844 CASQ1 C4015624 Myopathy, vacuolar, with casq1 aggregates NCBI curation 616231 Feb 16 2016 845 CASQ2 C2677794 Ventricular tachycardia, catecholaminergic polymorphic, 2 NCBI curation 611938 Feb 16 2016 845 CASQ2 C4053736 Catecholaminergic polymorphic ventricular tachycardia type 1 NCBI curation 604772 Oct 13 2017 846 CASR C0342345 Hypocalcemia, autosomal dominant 1 NCBI curation 601198 Feb 16 2016 846 CASR C0342637 Hypocalciuric hypercalcemia, familial, type 1 NCBI curation 145980 Feb 16 2016 846 CASR C1832615 Neonatal severe hyperparathyroidism NCBI curation 239200 Mar 24 2016 846 CASR C2752062 Epilepsy, idiopathic generalized 8 NCBI curation 612899 Feb 16 2016 831 CAST C4225381 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads NCBI curation 616295 Feb 16 2016 847 CAT C0268419 Acatalasia MONDO MONDO:0013571 614097 Apr 17 2020 117144 CATSPER1 C2751811 Spermatogenic failure 7 MONDO MONDO:0013070 612997 Apr 22 2020 117155 CATSPER2 C2751811 Spermatogenic failure 7 MONDO MONDO:0013070 612997 Apr 22 2020 117155 CATSPER2 C1970187 Deafness-infertility syndrome NCBI curation 611102 May 27 2016 857 CAV1 C2675861 Lipodystrophy, congenital generalized, type 3 NCBI curation 612526 Feb 16 2016 857 CAV1 C3807567 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome NCBI curation 606721 Aug 24 2016 857 CAV1 C3809192 Primary pulmonary hypertension 3 NCBI curation 615343 Feb 16 2016 859 CAV3 C0241005 Elevated serum creatine phosphokinase Human Phenotype Ontology HP:0003236 123320 Apr 4 2018 859 CAV3 C3280443 Distal myopathy, Tateyama type NCBI curation 614321 Feb 16 2016 859 CAV3 C2678485 Long QT syndrome 9 611818 Feb 16 2016 859 CAV3 C1832560 Rippling muscle disease 2 NCBI curation 606072 Jan 5 2020 859 CAV3 C3495498 Familial hypertrophic cardiomyopathy 1 NCBI curation 192600 Feb 16 2016 284119 CAVIN1 C2750069 Lipodystrophy, congenital generalized, type 4 NCBI curation 613327 Feb 16 2016 865 CBFB C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 865 CBFB C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 867 CBL C0349639 Juvenile myelomonocytic leukemia Human Phenotype Ontology HP:0012209 607785 Feb 16 2016 867 CBL C0349639 Juvenile myelomonocytic leukemia Human Phenotype Ontology HP:0012209 607785 Feb 16 2016 867 CBL C3150803 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia NCBI curation 613563 Feb 16 2016 867 CBL C3150803 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia NCBI curation 613563 Feb 16 2016 2694 CBLIF C1394891 Intrinsic factor deficiency NCBI curation 261000 Feb 16 2016 875 CBS C0751202 Classic homocystinuria MONDO MONDO:0009352 236200 Apr 17 2020 84733 CBX2 C2751317 46,XY sex reversal, type 5 NCBI curation 613080 Feb 16 2016 54862 CC2D1A C1838023 Mental retardation, autosomal recessive 3 NCBI curation 608443 Feb 16 2016 57545 CC2D2A C2676788 Joubert syndrome 9 NCBI curation 612285 Feb 16 2016 57545 CC2D2A C2676790 Meckel syndrome type 6 NCBI curation 612284 Feb 16 2016 57545 CC2D2A C1857662 Joubert syndrome with hepatic defect MONDO MONDO:0008996 216360 Apr 17 2020 147372 CCBE1 C4012050 Hennekam lymphangiectasia-lymphedema syndrome 1 NCBI curation 235510 Feb 1 2020 388389 CCDC103 C3542550 Ciliary dyskinesia, primary, 17 NCBI curation 614679 Feb 16 2016 93233 CCDC114 C3540844 Ciliary dyskinesia, primary, 20 NCBI curation 615067 Feb 16 2016 84317 CCDC115 C4225191 CCDC115-CDG MONDO MONDO:0014789 616828 Apr 17 2020 285025 CCDC141 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 115948 CCDC151 C4015016 Ciliary dyskinesia, primary, 30 NCBI curation 616037 Feb 16 2016 51244 CCDC174 C4225196 Hypotonia, infantile, with psychomotor retardation NCBI curation 616816 May 26 2016 28952 CCDC22 C4225419 Ritscher-schinzel syndrome 2 NCBI curation 300963 Feb 16 2016 79140 CCDC28B C2936862 Bardet-Biedl syndrome 1 209900 Feb 16 2016 339829 CCDC39 C3151136 Ciliary dyskinesia, primary, 14 NCBI curation 613807 Feb 16 2016 55036 CCDC40 C3151137 Ciliary dyskinesia, primary, 15 NCBI curation 613808 Feb 16 2016 57003 CCDC47 C4748898 Trichohepatoneurodevelopmental syndrome NCBI curation 618268 Jan 4 2019 152137 CCDC50 C1843895 Deafness, autosomal dominant 44 NCBI curation 607453 Feb 16 2016 85478 CCDC65 C3809701 Ciliary dyskinesia, primary, 27 NCBI curation 615504 Feb 16 2016 124093 CCDC78 C3553709 Myopathy, centronuclear, 4 NCBI curation 614807 Feb 16 2016 83987 CCDC8 C3280146 Three M syndrome 3 NCBI curation 614205 Feb 16 2016 55704 CCDC88A C1850056 PEHO-like syndrome NCBI curation 617507 Jun 22 2017 440193 CCDC88C C4518336 Spinocerebellar ataxia 40 NCBI curation SCA40 616053 Jul 13 2018 440193 CCDC88C C3887608 Congenital hydrocephalus 1 NCBI curation 236600 Sep 27 2018 6356 CCL11 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 6356 CCL11 C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 6347 CCL2 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 6347 CCL2 C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 6347 CCL2 C3891448 Neural tube defect Human Phenotype Ontology HP:0045005 182940 Feb 16 2016 6348 CCL3 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 6349 CCL3L1 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 83605 CCM2 C1864041 Cerebral cavernous malformations 2 NCBI curation 603284 Feb 16 2016 8838 CCN6 C0432215 Progressive pseudorheumatoid dysplasia 208230 Feb 16 2016 595 CCND1 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 595 CCND1 C0019562 Von Hippel-Lindau syndrome 193300 Feb 16 2016 595 CCND1 C0026764 Multiple myeloma Human Phenotype Ontology HP:0006775 254500 Feb 16 2016 894 CCND2 C4014742 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 NCBI curation 615938 Feb 16 2016 8812 CCNK C4748381 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES OMIM 618147 618147 Oct 18 2018 10309 CCNO C4014534 Ciliary dyskinesia, primary, 29 NCBI curation 615872 Feb 16 2016 92002 CCNQ C2678045 Syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO MONDO:0010408 300707 Apr 17 2020 1234 CCR5 C1835867 West nile virus, susceptibility to NCBI curation 610379 Feb 16 2016 1234 CCR5 C2675864 Diabetes mellitus, insulin-dependent, 22 NCBI curation 612522 Feb 16 2016 1234 CCR5 C1835407 Hepatitis c virus, susceptibility to NCBI curation 609532 Feb 16 2016 1234 CCR5 CN077994 Maraviroc response NCBI curation Feb 16 2016 22948 CCT5 C1850395 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive NCBI curation 256840 Feb 16 2016 977 CD151 C1867341 RAPH BLOOD GROUP SYSTEM OMIM 179620 179620 Feb 16 2016 977 CD151 C1836823 Nephropathy with pretibial epidermolysis bullosa and deafness NCBI curation 609057 Feb 16 2016 8763 CD164 C4283893 Deafness, autosomal dominant 66 NCBI curation 616969 Jul 5 2016 930 CD19 C3150738 Common variable immunodeficiency 3 NCBI curation 613493 Feb 16 2016 930 CD19 C3150354 Common variable immunodeficiency 2 NCBI curation 240500 Feb 16 2016 50489 CD207 C3150657 Birbeck granule deficiency NCBI curation 613393 Feb 16 2016 30835 CD209 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 30835 CD209 C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 30835 CD209 C3280582 Dengue virus, susceptibility to NCBI curation 614371 Feb 16 2016 51744 CD244 C0003873 Rheumatoid arthritis Human Phenotype Ontology HP:0001370 180300 Jul 22 2019 919 CD247 C1857798 Immunodeficiency due to defect in cd3-zeta NCBI curation 610163 Feb 16 2016 939 CD27 C3554540 Lymphoproliferative syndrome 2 NCBI curation 615122 Feb 16 2016 23607 CD2AP C1842982 Focal segmental glomerulosclerosis 3, susceptibility to NCBI curation 607832 Feb 16 2016 51293 CD320 C3150900 Methylmalonic aciduria due to transcobalamin receptor defect NCBI curation 613646 Feb 16 2016 948 CD36 C1970441 Coronary heart disease 7 NCBI curation 610938 Feb 16 2016 948 CD36 C1842090 Platelet glycoprotein IV deficiency NCBI curation 608404 Feb 16 2016 948 CD36 C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 915 CD3D C3810147 Immunodeficiency 19 NCBI curation 615617 Feb 16 2016 916 CD3E C3810127 Immunodeficiency 18 NCBI curation 615615 Feb 16 2016 917 CD3G C3810107 Immunodeficiency 17 NCBI curation 615607 Feb 16 2016 917 CD3G C1861297 Immunodeficiency due to defect in CD3-gamma NCBI curation Feb 16 2016 920 CD4 C3151379 Okt4 epitope deficiency NCBI curation 613949 Feb 16 2016 958 CD40 C1720957 Hyper-IgM syndrome type 3 MONDO MONDO:0011735 606843 Apr 22 2020 959 CD40LG C0398689 X-linked hyper-IgM syndrome MONDO MONDO:0010626 308230 Apr 22 2020 960 CD44 C1292298 INDIAN BLOOD GROUP SYSTEM OMIM 609027 609027 Feb 16 2016 4179 CD46 C2752040 Atypical hemolytic-uremic syndrome 2 NCBI curation 612922 Feb 16 2016 1604 CD55 C4538570 Protein-losing enteropathy (disease) MONDO MONDO:0009174 226300 Apr 17 2020 1604 CD55 C1292305 Cromer blood group system NCBI curation 613793 Feb 16 2016 966 CD59 C2676767 CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy NCBI curation 612300 Sep 16 2018 970 CD70 C4748863 Severe combined immunodeficiency due to CD70 deficiency MONDO MONDO:0034054 618261 Apr 17 2020 973 CD79A C3150751 Agammaglobulinemia 3, autosomal recessive NCBI curation 613501 Feb 16 2016 974 CD79B C3150207 Agammaglobulinemia 6, autosomal recessive NCBI curation 612692 Feb 16 2016 975 CD81 C3150741 Common variable immunodeficiency 6 NCBI curation 613496 Feb 16 2016 925 CD8A C1837065 Cd8 deficiency, familial NCBI curation 608957 Feb 16 2016 10225 CD96 C0796095 C syndrome 211750 Feb 16 2016 146059 CDAN1 C0271933 Congenital dyserythropoietic anemia, type I 224120 Feb 16 2016 8556 CDC14A C1837608 Deafness, autosomal recessive 32 NCBI curation 608653 Feb 16 2016 998 CDC42 C4225222 Takenouchi-Kosaki syndrome NCBI curation 616737 Feb 16 2016 8318 CDC45 C4310738 Meier-gorlin syndrome 7 NCBI curation 617063 Aug 24 2016 990 CDC6 C3151126 Meier-Gorlin syndrome 5 NCBI curation 613805 Feb 16 2016 79577 CDC73 C0687150 Parathyroid carcinoma Human Phenotype Ontology HP:0006780 608266 Feb 16 2016 79577 CDC73 C1840402 Hyperparathyroidism 1 NCBI curation 145000 Feb 16 2016 79577 CDC73 C1704981 Hyperparathyroidism 2 NCBI curation 145001 Feb 16 2016 83879 CDCA7 C4310799 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 NCBI curation 616910 May 26 2016 999 CDH1 C0476089 Endometrial carcinoma Human Phenotype Ontology HP:0012114 608089 Feb 16 2016 999 CDH1 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 999 CDH1 C4551988 Blepharocheilodontic syndrome 1 NCBI curation 119580 Dec 28 2019 999 CDH1 C1708349 Hereditary diffuse gastric cancer NCBI curation 137215 Feb 16 2016 999 CDH1 C0919267 Neoplasm of ovary NCBI curation 167000 Feb 16 2016 999 CDH1 C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 1009 CDH11 C0809936 Brachioskeletogenital syndrome 211380 Feb 16 2016 1013 CDH15 C2675488 Mental retardation, autosomal dominant 3 NCBI curation 612580 Feb 16 2016 1000 CDH2 CN283241 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME OMIM 618929 618929 Jun 28 2020 1000 CDH2 CN283234 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 OMIM 618920 618920 Jun 25 2020 64072 CDH23 C1832845 Usher syndrome type 1D MONDO MONDO:0010984 601067 Apr 22 2020 64072 CDH23 C1832394 Deafness, autosomal recessive 12 NCBI curation 601386 Feb 16 2016 64072 CDH23 C4539685 PITUITARY ADENOMA 5, MULTIPLE TYPES OMIM 617540 617540 Sep 28 2017 1001 CDH3 C1832162 Congenital hypotrichosis with juvenile macular dystrophy MONDO MONDO:0011107 601553 Apr 22 2020 1001 CDH3 C1857041 EEM syndrome 225280 Feb 16 2016 92211 CDHR1 C3150912 Cone-rod dystrophy 15 NCBI curation 613660 Feb 16 2016 84529 CDIN1 C3810185 Congenital dyserythropoietic anemia type type 1B MONDO MONDO:0014285 615631 Apr 22 2020 8558 CDK10 C4540156 AL KAISSI SYNDROME OMIM 617694 617694 Oct 1 2017 8621 CDK13 C4479246 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder NCBI curation 617360 Jun 20 2017 23097 CDK19 CN283238 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 OMIM 618916 618916 Jun 27 2020 1019 CDK4 C1836892 Cutaneous malignant melanoma 3 NCBI curation 609048 Feb 16 2016 1020 CDK5 C4225359 Lissencephaly 7 with cerebellar hypoplasia NCBI curation 616342 Feb 16 2016 55755 CDK5RAP2 C1858108 Primary autosomal recessive microcephaly 3 NCBI curation 604804 Feb 16 2016 1021 CDK6 C4015156 Primary autosomal recessive microcephaly 12 NCBI curation 616080 Feb 16 2016 1024 CDK8 C5231489 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES OMIM 618748 618748 Jan 29 2020 6792 CDKL5 CN128785 Angelman syndrome-like NCBI curation Feb 16 2016 6792 CDKL5 C4750718 Early infantile epileptic encephalopathy 2 NCBI curation 300672 Feb 16 2016 1027 CDKN1B C1970712 Multiple endocrine neoplasia, type 4 NCBI curation 610755 Feb 16 2016 1028 CDKN1C C0004903 Beckwith-Wiedemann syndrome 130650 Feb 16 2016 1028 CDKN1C C1846009 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies NCBI curation 614732 Feb 16 2016 1029 CDKN2A C1838547 Melanoma-pancreatic cancer syndrome NCBI curation 606719 Feb 16 2016 1029 CDKN2A C1835042 Melanoma and neural system tumor syndrome MONDO MONDO:0007967 155755 Apr 17 2020 1029 CDKN2A C1835044 Cutaneous malignant melanoma 2 NCBI curation 155601 Feb 16 2016 50937 CDON C3280215 Holoprosencephaly 11 NCBI curation 614226 Feb 16 2016 1041 CDSN C1840299 Hypotrichosis 2 NCBI curation 146520 Feb 16 2016 1041 CDSN C1849193 Peeling skin syndrome 1 NCBI curation 270300 Jan 10 2020 81620 CDT1 C3151120 Meier-Gorlin syndrome 4 NCBI curation 613804 Feb 16 2016 9085 CDY1 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 9426 CDY2A C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 388551 CEACAM16 C3281297 Deafness, autosomal dominant 4b NCBI curation 614614 Feb 16 2016 388551 CEACAM16 C5193079 DEAFNESS, AUTOSOMAL RECESSIVE 113 OMIM 618410 618410 May 2 2019 1050 CEBPA C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 1050 CEBPA C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 1053 CEBPE C4551556 Specific granule deficiency 1 NCBI curation 245480 Feb 2 2020 1056 CEL C1853297 Maturity-onset diabetes of the young type 8 MONDO MONDO:0012348 609812 Apr 22 2020 1062 CENPE C4015080 Primary autosomal recessive microcephaly 13 NCBI curation 616051 Feb 16 2016 1063 CENPF C1855705 Stromme syndrome NCBI curation 243605 Aug 24 2016 55835 CENPJ C3888212 Seckel syndrome 4 NCBI curation 613676 Feb 16 2016 55835 CENPJ C1842109 Primary autosomal recessive microcephaly 6 NCBI curation 608393 Feb 16 2016 80152 CENPT C5231467 SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES OMIM 618702 618702 Dec 18 2019 9731 CEP104 C4084842 Joubert syndrome 25 NCBI curation 616781 Feb 16 2016 153241 CEP120 C4540355 JOUBERT SYNDROME 31 OMIM 617761 617761 Nov 8 2017 153241 CEP120 C4225378 Short-rib thoracic dysplasia 13 with or without polydactyly NCBI curation 616300 Feb 16 2016 9662 CEP135 C3553414 Primary autosomal recessive microcephaly 8 NCBI curation 614673 Feb 16 2016 22995 CEP152 C3553886 Primary autosomal recessive microcephaly 9 NCBI curation 614852 Feb 16 2016 22995 CEP152 C3151187 Seckel syndrome 5 NCBI curation 613823 Feb 16 2016 22897 CEP164 C3541853 Nephronophthisis 15 NCBI curation 614845 Feb 16 2016 84984 CEP19 C3810324 Morbid obesity and spermatogenic failure NCBI curation 615703 Feb 16 2016 11190 CEP250 C5193051 Cone-rod dystrophy and hearing loss 2 NCBI curation 618358 Dec 29 2019 80184 CEP290 C1857780 Joubert syndrome 5 NCBI curation 610188 Feb 16 2016 80184 CEP290 C2673874 Bardet-Biedl syndrome 14 NCBI curation 615991 Feb 16 2016 80184 CEP290 C1857779 Senior-Loken syndrome 6 NCBI curation 610189 Feb 16 2016 80184 CEP290 C1857821 Leber congenital amaurosis 10 NCBI curation 611755 Feb 16 2016 80184 CEP290 C1970161 Meckel syndrome, type 4 MONDO MONDO:0012626 611134 May 9 2020 95681 CEP41 C3280897 Joubert syndrome 15 NCBI curation 614464 Feb 16 2016 95681 CEP41 C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 55165 CEP55 C1856053 Hydranencephaly with renal aplasia-dysplasia NCBI curation 236500 Feb 16 2016 9702 CEP57 C3279843 Mosaic variegated aneuploidy syndrome 2 NCBI curation 614114 Feb 16 2016 80254 CEP63 C3553582 Seckel syndrome 6 NCBI curation 614728 Feb 16 2016 84131 CEP78 C5193018 Cone-rod dystrophy and hearing loss 1 NCBI curation 617236 Dec 29 2019 51134 CEP83 C3890591 Nephronophthisis 18 NCBI curation 615862 Feb 16 2016 387119 CEP85L CN280891 LISSENCEPHALY 10 OMIM 618873 618873 May 10 2020 375298 CERKL C1842127 Retinitis pigmentosa 26 NCBI curation 608380 Feb 16 2016 10715 CERS1 C4015619 Epilepsy, progressive myoclonic 8 NCBI curation 616230 Feb 16 2016 204219 CERS3 C3554349 Autosomal recessive congenital ichthyosis 9 NCBI curation 615023 Feb 16 2016 10087 CERT1 C4225156 Mental retardation, autosomal dominant 34 NCBI curation 616351 Feb 16 2016 1066 CES1 C4748035 DRUG METABOLISM, ALTERED, CES1-RELATED OMIM 618057 618057 Jul 25 2018 1071 CETP C3149462 Hyperalphalipoproteinemia 1 NCBI curation 143470 Apr 10 2018 144406 CFAP251 C4748395 SPERMATOGENIC FAILURE 33 OMIM 618152 618152 Oct 24 2018 56683 CFAP298 C3809684 Ciliary dyskinesia, primary, 26 NCBI curation 615500 Feb 16 2016 85016 CFAP300 C4748052 Ciliary dyskinesia, primary, 38 NCBI curation 618063 Aug 28 2018 755 CFAP410 C1865695 Axial spondylometaphyseal dysplasia MONDO MONDO:0011211 602271 Apr 22 2020 755 CFAP410 C4479651 RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA OMIM 617547 617547 Jun 25 2017 80217 CFAP43 C0020258 Normal pressure hydrocephalus Human Phenotype Ontology HP:0002343 236690 Feb 16 2016 80217 CFAP43 C4539818 SPERMATOGENIC FAILURE 19 OMIM 617592 617592 Jul 27 2017 55779 CFAP44 C4539824 SPERMATOGENIC FAILURE 20 OMIM 617593 617593 Jul 27 2017 220136 CFAP53 C3553676 Heterotaxy, visceral, 6, autosomal NCBI curation 614779 Feb 16 2016 255101 CFAP65 C5231451 SPERMATOGENIC FAILURE 40 OMIM 618664 618664 Nov 22 2019 79846 CFAP69 C4693751 SPERMATOGENIC FAILURE 24 OMIM 617959 617959 May 5 2018 118491 CFAP70 C5231455 SPERMATOGENIC FAILURE 41 OMIM 618670 618670 Nov 23 2019 629 CFB C3809653 Age-related macular degeneration 14 NCBI curation 615489 Feb 16 2016 629 CFB C3809950 Complement factor B deficiency NCBI curation 615561 Feb 16 2016 629 CFB C2752038 Atypical hemolytic-uremic syndrome 4 NCBI curation 612924 Feb 16 2016 55997 CFC1 C1415817 Heterotaxy, visceral, 2, autosomal NCBI curation 605376 Feb 16 2016 1675 CFD C0398764 Complement factor d deficiency NCBI curation 613912 Feb 16 2016 3075 CFH C2749604 Atypical hemolytic-uremic syndrome 1 NCBI curation 235400 Feb 16 2016 3075 CFH C1853147 Age-related macular degeneration 4 NCBI curation 610698 Feb 16 2016 3075 CFH C0398777 Factor H deficiency 609814 Feb 16 2016 3075 CFH C0730295 Basal laminar drusen 126700 Feb 16 2016 3078 CFHR1 C1864205 Age-related macular degeneration 1 NCBI curation 603075 May 25 2016 3078 CFHR1 C2749604 Atypical hemolytic-uremic syndrome 1 NCBI curation 235400 Feb 16 2016 10878 CFHR3 C2749604 Atypical hemolytic-uremic syndrome 1 NCBI curation 235400 Feb 16 2016 10878 CFHR3 C1864205 Age-related macular degeneration 1 NCBI curation 603075 May 25 2016 10877 CFHR4 C2931788 Atypical hemolytic uremic syndrome NCBI curation Feb 16 2016 81494 CFHR5 CN120381 CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II NCBI curation Feb 16 2016 81494 CFHR5 C3553720 CFHR5 deficiency NCBI curation 614809 Feb 16 2016 3426 CFI C2752039 Atypical hemolytic-uremic syndrome 3 NCBI curation 612923 Feb 16 2016 3426 CFI C3809523 Age-related macular degeneration 13 NCBI curation 615439 Feb 16 2016 3426 CFI C3463916 Afibrinogenemia 610984 Feb 16 2016 1073 CFL2 C1853154 Nemaline myopathy 7 NCBI curation 610687 Feb 16 2016 5199 CFP C1839454 Properdin deficiency, X-linked 312060 Feb 16 2016 1080 CFTR C0403814 Congenital bilateral aplasia of vas deferens from CFTR mutation NCBI curation 277180 Feb 8 2020 1080 CFTR C0010674 Cystic fibrosis NCBI curation 219700 Jul 6 2018 1080 CFTR C0238339 Hereditary pancreatitis NCBI curation 167800 Feb 16 2016 1080 CFTR CN185459 Ivacaftor response NCBI curation Jul 6 2018 1080 CFTR C2749757 Bronchiectasis with or without elevated sweat chloride 1 NCBI curation 211400 Nov 20 2016 283489 CHAMP1 C4225275 Mental retardation, autosomal dominant 40 NCBI curation 616579 Feb 16 2016 1103 CHAT C0393929 Familial infantile myasthenia 254210 Feb 16 2016 400916 CHCHD10 C3554398 Spinal muscular atrophy, jokela type NCBI curation 615048 Feb 16 2016 400916 CHCHD10 C4014648 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 NCBI curation 615911 Feb 16 2016 400916 CHCHD10 C4015513 Myopathy, isolated mitochondrial, autosomal dominant NCBI curation 616209 Feb 16 2016 51142 CHCHD2 C4225238 Parkinson disease 22, autosomal dominant NCBI curation 616710 Feb 16 2016 1105 CHD1 C4540131 PILAROWSKI-BJORNSSON SYNDROME OMIM 617682 617682 Sep 23 2017 1106 CHD2 C3809278 Epileptic encephalopathy, childhood-onset NCBI curation 615369 Feb 16 2016 1107 CHD3 C4748701 SNIJDERS BLOK-CAMPEAU SYNDROME OMIM 618205 618205 Dec 2 2018 1108 CHD4 C4310688 Sifrim-Hitz-Weiss syndrome NCBI curation 617159 Jun 20 2017 55636 CHD7 C0265354 CHARGE association NCBI curation 214800 Feb 16 2016 55636 CHD7 C3552553 Hypogonadotropic hypogonadism 5 with or without anosmia MONDO MONDO:0012880 612370 Apr 22 2020 57680 CHD8 C3554373 Autism, susceptibility to, 18 NCBI curation 615032 Feb 16 2016 11200 CHEK2 C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 11200 CHEK2 C1836482 Li-Fraumeni syndrome 2 NCBI curation 609265 Feb 16 2016 11200 CHEK2 C0029463 Osteosarcoma Human Phenotype Ontology HP:0002669 259500 Feb 16 2016 11200 CHEK2 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 1116 CHI3L1 C2677770 Asthma-related traits, susceptibility to, 7 NCBI curation 611960 Aug 24 2016 1116 CHI3L1 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 26511 CHIC2 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 26511 CHIC2 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 1118 CHIT1 C3279902 Chitotriosidase deficiency NCBI curation 614122 Feb 16 2016 1120 CHKB C1865233 Megaconial type congenital muscular dystrophy MONDO MONDO:0011246 602541 Apr 22 2020 1121 CHM C0008525 Choroideremia Human Phenotype Ontology HP:0001139 303100 Feb 16 2016 5119 CHMP1A C3554209 Pontocerebellar hypoplasia type 8 NCBI curation 614961 Feb 16 2016 25978 CHMP2B C1833296 Frontotemporal Dementia, Chromosome 3-Linked GeneReviews NBK1199 600795 Feb 16 2016 25978 CHMP2B C1836076 Amyotrophic lateral sclerosis 17 NCBI curation 614696 Feb 16 2016 128866 CHMP4B C1854311 Cataract 31 multiple types MONDO MONDO:0011547 605387 Apr 22 2020 1123 CHN1 C0751083 Duane retraction syndrome 2 MONDO MONDO:0011444 604356 Apr 17 2020 11261 CHP1 C5193100 SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE OMIM 618438 618438 May 24 2019 91851 CHRDL1 C0344530 Megalocornea Human Phenotype Ontology HP:0000485 249300 Feb 16 2016 91851 CHRDL1 C0344530 Megalocornea Human Phenotype Ontology HP:0000485 309300 Feb 16 2016 1131 CHRM3 C0033770 Prune belly syndrome 100100 Feb 16 2016 1134 CHRNA1 C1854678 Lethal multiple pterygium syndrome 253290 Feb 16 2016 1134 CHRNA1 CN119608 CHRNA1-Related Congenital Myasthenic Syndrome NCBI curation Feb 16 2016 1134 CHRNA1 C4084823 Myasthenic syndrome, slow-channel congenital NCBI curation 601462 Feb 16 2016 1134 CHRNA1 C4225405 Congenital myasthenic syndrome 1B, fast-channel NCBI curation 608930 Apr 13 2016 1135 CHRNA2 C1835905 Epilepsy, nocturnal frontal lobe, type 4 NCBI curation 610353 Feb 16 2016 1136 CHRNA3 C3150168 Smoking as a quantitative trait locus 3 NCBI curation 612052 Feb 16 2016 1136 CHRNA3 C5231389 Acontractile detrusor NCBI curation 191800 Feb 16 2016 1137 CHRNA4 C1838049 Epilepsy, nocturnal frontal lobe, type 1 NCBI curation 600513 Feb 16 2016 1137 CHRNA4 C1861063 Tobacco addiction, susceptibility to NCBI curation 188890 Feb 16 2016 1138 CHRNA5 C3150168 Smoking as a quantitative trait locus 3 NCBI curation 612052 Feb 16 2016 1139 CHRNA7 C2677613 Chromosome 15q13.3 microdeletion syndrome MONDO MONDO:0012774 612001 Apr 22 2020 1140 CHRNB1 C4225374 Myasthenic syndrome, congenital, 2a, slow-channel NCBI curation 616313 Feb 16 2016 1140 CHRNB1 C4225373 Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency NCBI curation 616314 Feb 16 2016 1141 CHRNB2 C1854335 Epilepsy, nocturnal frontal lobe, type 3 NCBI curation 605375 Feb 16 2016 1144 CHRND C4225371 Myasthenic syndrome, congenital, 3b, fast-channel NCBI curation 616322 Feb 16 2016 1144 CHRND C1854678 Lethal multiple pterygium syndrome 253290 Feb 16 2016 1144 CHRND C4225372 Myasthenic syndrome, congenital, 3a, slow-channel NCBI curation 616321 Feb 16 2016 1144 CHRND C4225370 Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency NCBI curation 616323 Feb 16 2016 1145 CHRNE C4225413 Myasthenic syndrome, congenital, 4a, slow-channel NCBI curation 605809 Aug 24 2016 1145 CHRNE C4225369 Myasthenic syndrome, congenital, 4b, fast-channel NCBI curation 616324 Feb 16 2016 1145 CHRNE C1837091 Congenital myasthenic syndrome 4C MONDO MONDO:0012157 608931 Apr 17 2020 1146 CHRNG C1854678 Lethal multiple pterygium syndrome 253290 Feb 16 2016 1146 CHRNG C0265261 Autosomal recessive multiple pterygium syndrome MONDO MONDO:0009926 265000 Apr 17 2020 50515 CHST11 C4748496 OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS OMIM 618167 618167 Nov 1 2018 113189 CHST14 C1866294 Ehlers-Danlos syndrome, musculocontractural type NCBI curation 601776 Feb 16 2016 9469 CHST3 C1837657 Spondyloepiphyseal dysplasia with congenital joint dislocations NCBI curation 143095 Feb 16 2016 9469 CHST3 C3278404 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NCBI curation 245600 Feb 16 2016 4166 CHST6 C1636149 Macular corneal dystrophy Type I 217800 Feb 16 2016 64377 CHST8 C4015729 Peeling skin syndrome 3 NCBI curation 616265 Feb 16 2016 22856 CHSY1 C1854466 Temtamy preaxial brachydactyly syndrome 605282 Feb 16 2016 1147 CHUK C3150891 Cocoon syndrome NCBI curation 613630 Feb 16 2016 10519 CIB1 C4748876 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 OMIM 618267 618267 Feb 3 2019 10518 CIB2 C3553944 Usher syndrome, type 1J NCBI curation 614869 Feb 16 2016 10518 CIB2 C1836199 Deafness, autosomal recessive 48 NCBI curation 609439 Feb 16 2016 137392 CIBAR1 C4748721 POLYDACTYLY, POSTAXIAL, TYPE A9 OMIM 618219 618219 Dec 8 2018 23152 CIC C4539848 Intellectual disability, autosomal dominant 45 MONDO MONDO:0030910 617600 Apr 17 2020 63924 CIDEC C3808940 Familial partial lipodystrophy 5 NCBI curation 615238 Feb 16 2016 4261 CIITA C0003873 Rheumatoid arthritis Human Phenotype Ontology HP:0001370 180300 Jul 22 2019 4261 CIITA C2931418 Bare lymphocyte syndrome 2 NCBI curation 209920 Dec 25 2017 22858 CILK1 C2675227 Endocrine-cerebroosteodysplasia NCBI curation 612651 Feb 16 2016 22858 CILK1 C4693613 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 OMIM 617924 617924 Apr 6 2018 8483 CILP C0158252 Intervertebral disc disorder 603932 Feb 16 2016 493856 CISD2 C1858028 Wolfram syndrome 2 NCBI curation 604928 Feb 16 2016 1154 CISH C3280647 Bacteremia, susceptibility to, 2 NCBI curation 614383 Feb 16 2016 1154 CISH C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 1154 CISH C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 11113 CIT C4310723 Microcephaly 17, primary, autosomal recessive NCBI curation 617090 Jun 20 2017 10370 CITED2 C3280790 Atrial septal defect 8 NCBI curation 614433 Feb 16 2016 10370 CITED2 C3280783 Ventricular septal defect 2 NCBI curation 614431 Feb 16 2016 150468 CKAP2L C0795940 Filippi syndrome NCBI curation 272440 Feb 16 2016 23529 CLCF1 C1853198 Cold-induced sweating syndrome 2 NCBI curation 610313 Feb 16 2016 1180 CLCN1 C2936781 Congenital myotonia, autosomal dominant form NCBI curation 160800 Feb 16 2016 1180 CLCN1 C0751360 Congenital myotonia, autosomal recessive form 255700 Feb 16 2016 1181 CLCN2 C1854107 Hyperaldosteronism, familial, type II NCBI curation 605635 Aug 24 2016 1181 CLCN2 C2750893 Epilepsy with grand mal seizures on awakening 607628 Feb 16 2016 1181 CLCN2 C4554120 Leukoencephalopathy with ataxia NCBI curation 615651 Feb 16 2016 1183 CLCN4 C0796221 Mental retardation 49, X-linked NCBI curation 300114 Feb 16 2016 1184 CLCN5 C1839874 Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis NCBI curation 308990 Feb 16 2016 1184 CLCN5 C1845168 Hypophosphatemic rickets, X-linked recessive NCBI curation 300554 Feb 16 2016 1184 CLCN5 C1848336 Dent disease type 1 MONDO MONDO:0010225 300009 May 28 2020 1184 CLCN5 C0403720 X-linked recessive nephrolithiasis with renal failure 310468 Feb 16 2016 1186 CLCN7 C3179239 Autosomal dominant osteopetrosis 2 MONDO MONDO:0008156 166600 Apr 22 2020 1186 CLCN7 C5203300 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT OMIM 618541 618541 Aug 17 2019 1186 CLCN7 C1969106 Autosomal recessive osteopetrosis 4 MONDO MONDO:0012676 611490 Apr 22 2020 1187 CLCNKA C4310805 Bartter syndrome, type 4b NCBI curation 613090 Feb 16 2016 1188 CLCNKB C4310805 Bartter syndrome, type 4b NCBI curation 613090 Feb 16 2016 1188 CLCNKB C1846343 Bartter syndrome type 3 NCBI curation 607364 Feb 16 2016 9076 CLDN1 C1843355 Neonatal ichthyosis-sclerosing cholangitis syndrome MONDO MONDO:0011874 607626 Apr 17 2020 9071 CLDN10 C4522164 HELIX SYNDROME OMIM 617671 617671 Sep 17 2017 23562 CLDN14 C3279660 Deafness, autosomal recessive 29 NCBI curation 614035 Feb 16 2016 10686 CLDN16 C0268448 Primary hypomagnesemia 248250 Feb 16 2016 149461 CLDN19 C4721891 Hypomagnesemia 5, renal, with ocular involvement NCBI curation 248190 Feb 16 2016 51267 CLEC1A C3279774 Aspergillosis, susceptibility to NCBI curation 614079 Feb 16 2016 64581 CLEC7A C3279774 Aspergillosis, susceptibility to NCBI curation 614079 Feb 16 2016 64581 CLEC7A C0341024 Familial chronic mucocutaneous candidiasis NCBI curation 613108 Feb 16 2016 1193 CLIC2 C2749007 Chromosome Xq28 duplication syndrome NCBI curation 300815 Feb 16 2016 1193 CLIC2 C3550913 Mental retardation, X-linked, syndromic 32 NCBI curation 300886 Feb 16 2016 53405 CLIC5 C4015050 Deafness, autosomal recessive 103 NCBI curation 616042 Feb 16 2016 79827 CLMP C0021847 Intestinal pseudo-obstruction Human Phenotype Ontology HP:0004389 615237 Apr 4 2018 1201 CLN3 C0751383 Juvenile neuronal ceroid lipofuscinosis 204200 Feb 16 2016 1203 CLN5 C1850442 Neuronal ceroid lipofuscinosis 5 MONDO MONDO:0009745 256731 Apr 22 2020 54982 CLN6 C1866282 Neuronal ceroid lipofuscinosis 6 MONDO MONDO:0011144 601780 Apr 22 2020 54982 CLN6 C0022797 Adult neuronal ceroid lipofuscinosis 204300 Feb 16 2016 2055 CLN8 C1864923 Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant NCBI curation 610003 Feb 16 2016 2055 CLN8 C1838570 Neuronal ceroid lipofuscinosis 8 MONDO MONDO:0010830 600143 Apr 22 2020 10978 CLP1 C4014347 Pontocerebellar hypoplasia, type 10 NCBI curation 615803 Feb 16 2016 81570 CLPB C4225393 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia NCBI curation 616271 Feb 16 2016 8192 CLPP C3808414 Perrault syndrome 3 NCBI curation 614129 Aug 24 2016 10845 CLPX C4693947 Protoporphyria, erythropoietic, 2 NCBI curation 618015 Jan 19 2020 7401 CLRN1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 7401 CLRN1 C3280041 Retinitis pigmentosa 61 NCBI curation 614180 Feb 16 2016 7401 CLRN1 C1568248 Usher syndrome, type 3A NCBI curation 276902 Apr 18 2016 1213 CLTC C4693389 Intellectual disability, autosomal dominant 56 MONDO MONDO:0030922 617854 Apr 17 2020 7555 CNBP C2931689 Myotonic dystrophy type 2 602668 Feb 16 2016 1259 CNGA1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 1259 CNGA1 C3151059 Retinitis pigmentosa 49 NCBI curation 613756 Feb 16 2016 1261 CNGA3 C1857618 Achromatopsia 2 216900 Feb 16 2016 1258 CNGB1 C3151066 Retinitis pigmentosa 45 NCBI curation 613767 Feb 16 2016 54714 CNGB3 C1849792 Achromatopsia 3 NCBI curation 262300 May 3 2020 22866 CNKSR2 C4538788 Intellectual disability, X-linked, syndromic, Houge type MONDO MONDO:0030909 301008 Apr 17 2020 54805 CNNM2 C4225333 Hypomagnesemia, seizures, and mental retardation 1 NCBI curation 616418 Dec 29 2019 54805 CNNM2 C3151295 Hypomagnesemia 6, renal NCBI curation 613882 Feb 16 2016 26504 CNNM4 C3495589 Jalili syndrome MONDO MONDO:0009007 217080 Apr 17 2020 23019 CNOT1 C5193131 HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS OMIM 618500 618500 Jul 24 2019 4848 CNOT2 C5231426 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES OMIM 618608 618608 Oct 6 2019 4849 CNOT3 C5231456 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES OMIM 618672 618672 Nov 29 2019 10695 CNPY3 C4693663 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 OMIM 617929 617929 Apr 7 2018 1272 CNTN1 C2675527 Myopathy, congenital, compton-north NCBI curation 612540 Feb 16 2016 6900 CNTN2 C3809374 Epilepsy, familial adult myoclonic, 5 NCBI curation 615400 Feb 16 2016 8506 CNTNAP1 C4748608 Congenital hypomyelinating neuropathy 3 NCBI curation 618186 Dec 1 2018 8506 CNTNAP1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 Feb 16 2016 8506 CNTNAP1 C4225386 Lethal congenital contracture syndrome 7 NCBI curation 616286 Feb 16 2016 26047 CNTNAP2 C2750246 Pitt-Hopkins-like syndrome 1 NCBI curation 610042 Jul 3 2018 26047 CNTNAP2 C2677504 Autism 15 NCBI curation 612100 Feb 16 2016 493753 COA5 C4225154 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 NCBI curation 616500 Feb 16 2016 388753 COA6 C4225304 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 NCBI curation 616501 Feb 16 2016 65260 COA7 C5193070 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 NCBI curation 618387 Jan 3 2020 84334 COA8 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 80347 COASY C3810230 Neurodegeneration with brain iron accumulation 6 NCBI curation 615643 Feb 16 2016 80347 COASY C4748873 PONTOCEREBELLAR HYPOPLASIA, TYPE 12 OMIM 618266 618266 Jan 11 2019 1690 COCH C4748162 DEAFNESS, AUTOSOMAL RECESSIVE 110 OMIM 618094 618094 Aug 30 2018 1690 COCH C1832425 Deafness, autosomal dominant 9 NCBI curation 601369 Feb 16 2016 9382 COG1 C2931011 COG1 congenital disorder of glycosylation NCBI curation 611209 Dec 25 2017 22796 COG2 C4479353 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq OMIM 617395 617395 Apr 7 2017 25839 COG4 C3150736 Congenital disorder of glycosylation type 2J NCBI curation 613489 Feb 16 2016 25839 COG4 C1300285 Microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO MONDO:0019407 618150 May 27 2020 10466 COG5 C3150876 Congenital disorder of glycosylation type 2i NCBI curation 613612 Feb 16 2016 57511 COG6 C3553230 Congenital disorder of glycosylation type 2L NCBI curation 614576 Feb 16 2016 57511 COG6 C3809160 Shaheen syndrome NCBI curation 615328 Feb 16 2016 91949 COG7 C2931010 COG7 congenital disorder of glycosylation NCBI curation 608779 Dec 25 2017 84342 COG8 C1970021 Congenital disorder of glycosylation type 2H NCBI curation 611182 Feb 16 2016 1300 COL10A1 C0265289 Metaphyseal chondrodysplasia, Schmid type 156500 Feb 16 2016 1301 COL11A1 C0158252 Intervertebral disc disorder 603932 Feb 16 2016 1301 COL11A1 C1858084 Stickler syndrome type 2 MONDO MONDO:0011493 604841 Apr 22 2020 1301 COL11A1 C0265235 Marshall syndrome 154780 Feb 16 2016 1301 COL11A1 C3278138 Fibrochondrogenesis 1 OMIM 228520 228520 Nov 16 2019 1301 COL11A1 C4760307 DEAFNESS, AUTOSOMAL DOMINANT 37 OMIM 618533 618533 Aug 14 2019 1302 COL11A2 C0432210 Otospondylomegaepiphyseal dysplasia, autosomal recessive NCBI curation 215150 Jan 18 2020 1302 COL11A2 C3281128 Fibrochondrogenesis 2 NCBI curation 614524 Feb 16 2016 1302 COL11A2 C1861481 Otospondylomegaepiphyseal dysplasia, autosomal dominant NCBI curation 184840 Jan 18 2020 1302 COL11A2 C1866095 Deafness, autosomal dominant 13 NCBI curation 601868 Feb 16 2016 1302 COL11A2 C1864746 Deafness, autosomal recessive 53 NCBI curation 609706 Feb 16 2016 1303 COL12A1 C4225314 Ullrich congenital muscular dystrophy 2 NCBI curation 616470 Feb 16 2016 1303 COL12A1 C4225313 Bethlem myopathy 2 NCBI curation 616471 Feb 16 2016 1305 COL13A1 C4225235 Myasthenic syndrome, congenital, 19 NCBI curation 616720 Feb 16 2016 1308 COL17A1 C1852551 Epithelial recurrent erosion dystrophy NCBI curation 122400 Feb 16 2016 1308 COL17A1 C0268374 Junctional epidermolysis bullosa, non-Herlitz type MONDO MONDO:0009180 226650 May 13 2020 80781 COL18A1 C4551775 Knobloch syndrome 1 NCBI curation 267750 Feb 16 2016 80781 COL18A1 CN280897 GLAUCOMA, PRIMARY CLOSED-ANGLE OMIM 618880 618880 May 13 2020 1277 COL1A1 C0029458 Postmenopausal osteoporosis NCBI curation 166710 Jul 6 2018 1277 COL1A1 C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 Feb 16 2016 1277 COL1A1 C0023931 Osteogenesis imperfecta type I 166200 Feb 16 2016 1277 COL1A1 C0268362 Osteogenesis imperfecta type III 259420 Feb 16 2016 1277 COL1A1 C0020497 Infantile cortical hyperostosis 114000 Feb 16 2016 1277 COL1A1 C4551623 Ehlers-Danlos syndrome, procollagen proteinase deficient 130060 Feb 16 2016 1277 COL1A1 C0268363 Osteogenesis imperfecta with normal sclerae, dominant form 166220 Feb 16 2016 1277 COL1A1 C0268358 Osteogenesis imperfecta, recessive perinatal lethal 166210 Feb 16 2016 1278 COL1A2 C0268358 Osteogenesis imperfecta, recessive perinatal lethal 166210 Feb 16 2016 1278 COL1A2 C0268363 Osteogenesis imperfecta with normal sclerae, dominant form 166220 Feb 16 2016 1278 COL1A2 C4303789 Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form NCBI curation 225320 Feb 16 2016 1278 COL1A2 C0268362 Osteogenesis imperfecta type III 259420 Feb 16 2016 1278 COL1A2 C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 Feb 16 2016 1278 COL1A2 CN706304 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 OMIM 617821 617821 Dec 23 2017 1278 COL1A2 C0029458 Postmenopausal osteoporosis NCBI curation 166710 Jul 6 2018 84570 COL25A1 C4015552 Fibrosis of extraocular muscles, congenital, 5 NCBI curation 616219 Feb 16 2016 85301 COL27A1 C3554594 Steel syndrome NCBI curation 615155 Feb 16 2016 1280 COL2A1 C0700635 Spondylometaphyseal dysplasia Human Phenotype Ontology HP:0002657 184250 Mar 19 2018 1280 COL2A1 C1836080 Stickler syndrome, type I, nonsyndromic ocular NCBI curation 609508 Aug 27 2018 1280 COL2A1 C1835437 Platyspondylic dysplasia, Torrance type MONDO MONDO:0007895 151210 Apr 22 2020 1280 COL2A1 C0265279 Kniest dysplasia 156550 Feb 16 2016 1280 COL2A1 C1858079 Osteoarthritis with mild chondrodysplasia NCBI curation 604864 Feb 16 2016 1280 COL2A1 C2745959 Spondyloepiphyseal dysplasia congenita MONDO MONDO:0008471 183900 Apr 17 2020 1280 COL2A1 C0432221 Spondylometaphyseal dysplasia - Sutcliffe type 184255 Feb 16 2016 1280 COL2A1 C1836683 Czech dysplasia, metatarsal type MONDO MONDO:0012206 609162 Apr 22 2020 1280 COL2A1 C0023234 Coxa plana Human Phenotype Ontology HP:0005743 150600 Apr 10 2018 1280 COL2A1 C4225273 Spondyloepiphyseal dysplasia, stanescu type NCBI curation 616583 Feb 16 2016 1280 COL2A1 C1851536 Epiphyseal dysplasia, multiple, with myopia and conductive deafness NCBI curation 132450 Feb 16 2016 1280 COL2A1 C4551562 Avascular necrosis of the head of femur NCBI curation 608805 Feb 16 2016 1280 COL2A1 C0220685 Achondrogenesis type II MONDO MONDO:0008702 200610 Apr 22 2020 1280 COL2A1 C2020284 Stickler syndrome type 1 108300 Feb 16 2016 1280 COL2A1 C0796173 Spondyloperipheral dysplasia-short ulna syndrome MONDO MONDO:0010078 271700 Apr 17 2020 1281 COL3A1 C5193040 POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME OMIM 618343 618343 Mar 7 2019 1281 COL3A1 C0268338 Ehlers-Danlos syndrome, type 4 NCBI curation 130050 Feb 16 2016 1282 COL4A1 C5231411 MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT OMIM 618564 618564 Sep 8 2019 1282 COL4A1 C1867327 Retinal arteries, tortuosity of NCBI curation 180000 Jun 5 2016 1282 COL4A1 CN029315 Brain small vessel disease with hemorrhage NCBI curation Feb 16 2016 1282 COL4A1 C3281105 Hemorrhage, intracerebral, susceptibility to NCBI curation 614519 Jun 5 2016 1282 COL4A1 C4551998 Brain small vessel disease 1 with or without ocular anomalies NCBI curation 175780 Jan 6 2020 1282 COL4A1 C2673195 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps NCBI curation 611773 Feb 16 2016 1284 COL4A2 C3281105 Hemorrhage, intracerebral, susceptibility to NCBI curation 614519 Jun 5 2016 1284 COL4A2 C3280970 Porencephaly 2 NCBI curation 614483 Feb 16 2016 1285 COL4A3 C0241908 Benign familial hematuria 141200 Feb 16 2016 1285 COL4A3 C4746745 Alport syndrome, autosomal recessive NCBI curation 203780 Feb 16 2016 1285 COL4A3 C4746547 Alport syndrome 3, autosomal dominant NCBI curation 104200 Feb 22 2019 1286 COL4A4 C4746745 Alport syndrome, autosomal recessive NCBI curation 203780 Feb 16 2016 1286 COL4A4 C0241908 Benign familial hematuria 141200 Feb 16 2016 1287 COL4A5 C4746986 Alport syndrome 1, X-linked recessive NCBI curation 301050 Feb 22 2019 1288 COL4A6 C3806737 Deafness, X-linked 6 NCBI curation 300914 Feb 16 2016 1289 COL5A1 C4552122 Ehlers-Danlos syndrome, classic type Orphanet ORPHA287 130000 Feb 16 2016 1289 COL5A1 C4538407 Ehlers-Danlos syndrome classic type 2 NCBI curation 130010 Jul 10 2019 1290 COL5A2 C4538407 Ehlers-Danlos syndrome classic type 2 NCBI curation 130010 Jul 10 2019 1291 COL6A1 CN033863 Ullrich congenital muscular dystrophy 1 NCBI curation 254090 Oct 23 2016 1291 COL6A1 CN029274 Bethlem myopathy 1 NCBI curation 158810 Dec 4 2016 1291 COL6A1 CN117976 Collagen VI-related myopathy NCBI curation Feb 16 2016 1292 COL6A2 CN029274 Bethlem myopathy 1 NCBI curation 158810 Dec 4 2016 1292 COL6A2 CN033863 Ullrich congenital muscular dystrophy 1 NCBI curation 254090 Oct 23 2016 1292 COL6A2 C1850671 Myosclerosis, autosomal recessive NCBI curation 255600 Feb 16 2016 1293 COL6A3 C4225336 Dystonia 27 NCBI curation 616411 Feb 16 2016 1293 COL6A3 CN033863 Ullrich congenital muscular dystrophy 1 NCBI curation 254090 Oct 23 2016 1293 COL6A3 CN029274 Bethlem myopathy 1 NCBI curation 158810 Dec 4 2016 1294 COL7A1 C0432322 Generalized dominant dystrophic epidermolysis bullosa NCBI curation 131750 Feb 16 2016 1294 COL7A1 C0079474 Recessive dystrophic epidermolysis bullosa NCBI curation 226600 Feb 16 2016 1294 COL7A1 C0268371 Dominant dystrophic epidermolysis bullosa with absence of skin 132000 Feb 16 2016 1294 COL7A1 C1843761 Nail disorder, nonsyndromic congenital, 8 NCBI curation 607523 Feb 16 2016 1294 COL7A1 C0079294 Dystrophic epidermolysis bullosa Feb 16 2016 1294 COL7A1 C0432321 Pretibial epidermolysis bullosa Human Phenotype Ontology HP:0012221 131850 Apr 10 2018 1294 COL7A1 C1275114 Epidermolysis bullosa pruriginosa 604129 Feb 16 2016 1294 COL7A1 C1851573 Transient bullous dermolysis of the newborn 131705 Feb 16 2016 1296 COL8A2 C1850959 Corneal dystrophy, Fuchs endothelial 1 NCBI curation 136800 Feb 16 2016 1296 COL8A2 C1852795 Corneal dystrophy, posterior polymorphous, 2 NCBI curation 609140 Feb 16 2016 1297 COL9A1 C3279941 Stickler syndrome, type 4 NCBI curation 614134 Feb 16 2016 1297 COL9A1 C2675767 Multiple epiphyseal dysplasia 6 NCBI curation 614135 Feb 16 2016 1298 COL9A2 C1838429 Epiphyseal dysplasia, multiple, 2 MONDO MONDO:0010844 600204 Apr 22 2020 1298 COL9A2 C3280342 Stickler syndrome, type 5 NCBI curation 614284 Feb 16 2016 1299 COL9A3 C0158252 Intervertebral disc disorder 603932 Feb 16 2016 1299 COL9A3 C1832998 Epiphyseal dysplasia, multiple, 3 MONDO MONDO:0010964 600969 Apr 22 2020 10584 COLEC10 C0796032 3MC syndrome 3 MONDO MONDO:0009554 248340 Apr 22 2020 78989 COLEC11 C0796279 3MC syndrome 2 MONDO MONDO:0009927 265050 Apr 22 2020 79709 COLGALT1 C5193053 BRAIN SMALL VESSEL DISEASE 3 OMIM 618360 618360 Mar 23 2019 8292 COLQ C1864233 Endplate acetylcholinesterase deficiency NCBI curation 603034 Feb 16 2016 1311 COMP C1838280 Multiple epiphyseal dysplasia 1 NCBI curation 132400 Apr 17 2016 1311 COMP C0410538 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 177170 Feb 16 2016 1312 COMT C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 1312 COMT C1868649 Panic disorder 1 NCBI curation 167870 Feb 16 2016 1314 COPA C4225334 Autoimmune interstitial lung, joint, and kidney disease NCBI curation 616414 Feb 16 2016 9276 COPB2 C4540488 MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE OMIM 617800 617800 Dec 9 2017 27235 COQ2 C3714927 Multiple system atrophy MONDO MONDO:0007803 146500 May 7 2020 27235 COQ2 C3551954 Coenzyme Q10 deficiency, primary 1 NCBI curation 607426 Feb 16 2016 51117 COQ4 C4225392 Coenzyme Q10 deficiency, primary, 7 NCBI curation 616276 Feb 16 2016 51004 COQ6 C3553349 Coenzyme Q10 deficiency, primary, 6 NCBI curation 614650 Feb 16 2016 10229 COQ7 C4225226 Coenzyme Q10 deficiency, primary, 8 NCBI curation 616733 Feb 16 2016 56997 COQ8A C2677589 Coenzyme Q10 deficiency, primary, 4 NCBI curation 612016 Feb 16 2016 79934 COQ8B C3809965 Nephrotic syndrome, type 9 NCBI curation 615573 Feb 16 2016 57017 COQ9 C3553374 Coenzyme Q10 deficiency, primary, 5 NCBI curation 614654 Feb 16 2016 10699 CORIN C3281288 Preeclampsia/eclampsia 5 NCBI curation 614595 Feb 16 2016 11151 CORO1A C3809383 Immunodeficiency 8 NCBI curation 615401 Feb 16 2016 1352 COX10 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 1352 COX10 C0023264 Leigh syndrome Orphanet ORPHA506 256000 Feb 16 2016 84987 COX14 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 1355 COX15 C3554534 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 NCBI curation 615119 Feb 16 2016 1355 COX15 C0023264 Leigh syndrome Orphanet ORPHA506 256000 Feb 16 2016 116228 COX20 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 84701 COX4I2 C2675184 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NCBI curation 612714 Feb 16 2016 1337 COX6A1 C4015029 Charcot-Marie-Tooth disease, recessive intermediate d NCBI curation 616039 Feb 16 2016 1340 COX6B1 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 1349 COX7B C0796070 Linear skin defects with multiple congenital anomalies 1 NCBI curation 309801 Aug 24 2016 1349 COX7B C3550921 Linear skin defects with multiple congenital anomalies 2 NCBI curation 300887 Aug 24 2016 1351 COX8A C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 1356 CP C0878682 Deficiency of ferroxidase NCBI curation 604290 Feb 16 2016 57094 CPA6 C3280734 Febrile seizures, familial, 11 NCBI curation 614418 Feb 16 2016 57094 CPA6 C3280730 Epilepsy, familial temporal lobe, 5 NCBI curation 614417 Feb 16 2016 27151 CPAMD8 C4310622 Anterior segment dysgenesis 8 NCBI curation 617319 Jun 20 2017 65250 CPLANE1 C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 65250 CPLANE1 C3553264 Joubert syndrome 17 NCBI curation 614615 Feb 16 2016 65250 CPLANE1 C2745997 Orofaciodigital syndrome type 6 MONDO MONDO:0010176 277170 Apr 22 2020 10815 CPLX1 C1956097 4p partial monosomy syndrome 194190 Feb 16 2016 10815 CPLX1 C4693810 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 OMIM 617976 617976 May 17 2018 1369 CPN1 C0398782 Anaphylotoxin inactivator deficiency NCBI curation 212070 Feb 16 2016 1371 CPOX C0342859 Harderoporphyria NCBI curation 618892 Feb 16 2016 1371 CPOX C0162531 Hereditary coproporphyria NCBI curation 121300 Feb 16 2016 1373 CPS1 C4082171 Congenital hyperammonemia, type I 237300 Feb 16 2016 1373 CPS1 C3714958 Pulmonary hypertension, neonatal, susceptibility to NCBI curation 615371 Feb 16 2016 29894 CPSF1 CN263398 MYOPIA 27 OMIM 618827 618827 Mar 29 2020 1374 CPT1A C0342789 Carnitine palmitoyltransferase I deficiency 255120 Feb 16 2016 126129 CPT1C C4225387 Spastic paraplegia 73, autosomal dominant NCBI curation 616282 Feb 16 2016 1376 CPT2 C1833511 Carnitine palmitoyltransferase II deficiency, infantile NCBI curation 600649 Feb 16 2016 1376 CPT2 C3280160 Encephalopathy, acute, infection-induced, 4, susceptibility to NCBI curation 614212 Feb 16 2016 1376 CPT2 C1833518 Carnitine palmitoyltransferase II deficiency, lethal neonatal NCBI curation 608836 Jun 8 2018 1376 CPT2 C0342790 Carnitine palmitoyltransferase II deficiency Feb 16 2016 1376 CPT2 C1833508 Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced NCBI curation 255110 Jun 20 2017 1378 CR1 C1292327 KNOPS BLOOD GROUP SYSTEM OMIM 607486 607486 Feb 16 2016 1378 CR1 C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 1380 CR2 C1970455 Systemic lupus erythematosus 9 NCBI curation 610927 Feb 16 2016 1380 CR2 C3150354 Common variable immunodeficiency 2 NCBI curation 240500 Feb 16 2016 1380 CR2 C3542922 Common variable immunodeficiency 7 NCBI curation 614699 Feb 16 2016 8738 CRADD C3281044 Mental retardation, autosomal recessive 34 NCBI curation 614499 Feb 16 2016 1384 CRAT C4693587 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 OMIM 617917 617917 Mar 29 2018 23418 CRB1 C1838647 Retinitis pigmentosa 12 600105 Feb 16 2016 23418 CRB1 C1868310 Pigmented paravenous chorioretinal atrophy NCBI curation 172870 Feb 16 2016 23418 CRB1 C3151202 Leber congenital amaurosis 8 NCBI curation 613835 Feb 16 2016 286204 CRB2 C4015555 Focal segmental glomerulosclerosis 9 NCBI curation 616220 Feb 16 2016 286204 CRB2 C1857423 Ventriculomegaly with cystic kidney disease NCBI curation 219730 Feb 16 2016 51185 CRBN C1843942 Mental retardation, autosomal recessive 2 NCBI curation 607417 Feb 16 2016 1385 CREB1 C1266127 Angiomatoid fibrous histiocytoma NCBI curation 612160 Feb 16 2016 90993 CREB3L1 C4015610 Osteogenesis imperfecta, type xvi NCBI curation 616229 Aug 24 2016 1387 CREBBP C4551859 Rubinstein-Taybi syndrome 1 NCBI curation 180849 Feb 13 2019 1387 CREBBP C5193034 Menke-Hennekam syndrome 1 NCBI curation 618332 Feb 25 2019 78987 CRELD1 C1853508 Atrioventricular septal defect 2 NCBI curation 606217 Feb 16 2016 9419 CRIPT C4014339 Short stature with microcephaly and distinctive facies NCBI curation 615789 Feb 16 2016 9244 CRLF1 C1848947 Cold-induced sweating syndrome 1 NCBI curation 272430 Feb 16 2016 729920 CRPPA C4015095 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 NCBI curation 616052 Jun 20 2017 729920 CRPPA C3553330 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 NCBI curation 614643 Feb 16 2016 10491 CRTAP C1853162 Osteogenesis imperfecta type 7 610682 Feb 16 2016 1406 CRX C3489532 Cone-rod dystrophy 2 120970 Feb 16 2016 1406 CRX C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 1406 CRX C3151192 Leber congenital amaurosis 7 NCBI curation 613829 Feb 16 2016 1407 CRY1 C3279991 Sleep-wake schedule disorder, delayed phase type NCBI curation 614163 Feb 16 2016 1409 CRYAA C1858679 Cataract, autosomal dominant NCBI curation 604219 Feb 16 2016 1410 CRYAB C3554649 Dilated cardiomyopathy 1II NCBI curation 615184 Feb 16 2016 1410 CRYAB C3808377 Cataract 16, multiple types NCBI curation 613763 Aug 24 2016 1410 CRYAB C3151236 Fatal infantile hypertonic myofibrillar myopathy NCBI curation 613869 Dec 27 2016 1410 CRYAB C1837317 Alpha-B crystallinopathy NCBI curation 608810 Feb 16 2016 1411 CRYBA1 C1833229 Cataract, congenital zonular, with sutural opacities NCBI curation 600881 Feb 16 2016 1412 CRYBA2 C4011454 Cataract, floriform NCBI curation 115900 Feb 16 2016 1413 CRYBA4 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 1413 CRYBA4 C3808012 Cataract 23, multiple types NCBI curation 610425 Jun 20 2017 1414 CRYBB1 C3888124 Cataract, congenital nuclear, autosomal recessive 3 NCBI curation 611544 Feb 16 2016 1415 CRYBB2 C1832175 Cataract 3, multiple types NCBI curation 601547 Aug 24 2016 1417 CRYBB3 C1857853 Cataract, congenital nuclear, autosomal recessive 2 NCBI curation 609741 Feb 16 2016 1419 CRYGB C3808800 Cataract 39, multiple types NCBI curation 615188 Feb 16 2016 1420 CRYGC C4721890 Cataract, coppock-like NCBI curation 604307 Feb 16 2016 1421 CRYGD C3540850 Cataract 4 NCBI curation 115700 Oct 15 2018 1427 CRYGS C3805410 Cataract 20 multiple types MONDO MONDO:0007284 116100 Apr 22 2020 1428 CRYM C4084708 Deafness, autosomal dominant 40 NCBI curation 616357 Feb 16 2016 1436 CSF1R C3711381 Hereditary diffuse leukoencephalopathy with spheroids NCBI curation 221820 Feb 16 2016 1436 CSF1R C5193117 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS OMIM 618476 618476 Jun 23 2019 1438 CSF2RA C2677877 Surfactant metabolism dysfunction, pulmonary, 4 NCBI curation 300770 Feb 16 2016 1439 CSF2RB C3280574 Surfactant metabolism dysfunction, pulmonary, 5 NCBI curation 614370 Feb 16 2016 1441 CSF3R C4310764 Neutropenia, severe congenital, 7, autosomal recessive NCBI curation 617014 Aug 24 2016 55790 CSGALNACT1 CN280879 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE OMIM 618870 618870 May 3 2020 1453 CSNK1D C3808874 Advanced sleep phase syndrome, familial, 2 NCBI curation 615224 Feb 16 2016 1457 CSNK2A1 C4310739 Okur-chung neurodevelopmental syndrome NCBI curation 617062 Aug 24 2016 1460 CSNK2B C5231482 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME OMIM 618732 618732 Jan 17 2020 79848 CSPP1 C3810212 Joubert syndrome 21 NCBI curation 615636 Feb 16 2016 8048 CSRP3 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 8048 CSRP3 C1843808 Dilated cardiomyopathy 1M NCBI curation C1843808 607482 Feb 16 2016 8048 CSRP3 C2677491 Familial hypertrophic cardiomyopathy 12 NCBI curation 612124 Feb 16 2016 1471 CST3 C1527338 Hereditary cerebral amyloid angiopathy, Icelandic type 105150 Feb 16 2016 1471 CST3 C2677774 Age-related macular degeneration 11 NCBI curation 611953 May 25 2016 1474 CST6 C5193145 ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE OMIM 618535 618535 Aug 14 2019 1475 CSTA C4225407 Peeling skin syndrome 4 NCBI curation 607936 Jan 10 2020 1476 CSTB C0751785 Unverricht-Lundborg syndrome 254800 Feb 16 2016 1487 CTBP1 C1956097 4p partial monosomy syndrome 194190 Feb 16 2016 1487 CTBP1 C4693578 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME OMIM 617915 617915 Mar 29 2018 80169 CTC1 C4552029 Cerebroretinal microangiopathy with calcifications and cysts 1 NCBI curation 612199 Jul 1 2017 10664 CTCF C3809686 Mental retardation, autosomal dominant 21 NCBI curation 615502 Feb 16 2016 9150 CTDP1 C1858726 Congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO MONDO:0011402 604168 Apr 17 2020 1491 CTH C0220993 Cystathioninuria Human Phenotype Ontology HP:0003153 219500 Feb 16 2016 115908 CTHRC1 C0004763 Barrett esophagus Human Phenotype Ontology HP:0100580 614266 Apr 10 2018 1493 CTLA4 C0677607 Hashimoto thyroiditis Human Phenotype Ontology HP:0000872 140300 Feb 16 2016 1493 CTLA4 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 Feb 16 2016 1493 CTLA4 C1832392 Diabetes mellitus, insulin-dependent, 12 NCBI curation 601388 Feb 16 2016 1493 CTLA4 C1857845 Celiac disease 3 NCBI curation 609755 Feb 16 2016 1493 CTLA4 C4015214 Autoimmune lymphoproliferatiVe syndrome, type V NCBI curation 616100 Nov 11 2018 1495 CTNNA1 C1837029 Macular dystrophy, patterned, 2 NCBI curation 608970 Aug 24 2016 1496 CTNNA2 C4748540 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 OMIM 618174 618174 Nov 7 2018 29119 CTNNA3 C3810138 Arrhythmogenic right ventricular dysplasia, familial, 13 NCBI curation 615616 Feb 16 2016 1499 CTNNB1 C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 1499 CTNNB1 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 1499 CTNNB1 C4539767 EXUDATIVE VITREORETINOPATHY 7 OMIM 617572 617572 Jul 16 2017 1499 CTNNB1 C0919267 Neoplasm of ovary NCBI curation 167000 Feb 16 2016 1499 CTNNB1 C0206711 Pilomatrixoma Human Phenotype Ontology HP:0030434 132600 Feb 16 2016 1499 CTNNB1 C3554449 Mental retardation, autosomal dominant 19 NCBI curation 615075 Feb 16 2016 1499 CTNNB1 C0025149 Medulloblastoma Human Phenotype Ontology HP:0002885 155255 Feb 16 2016 1500 CTNND1 C4540127 Blepharocheilodontic syndrome 2 NCBI curation 617681 Dec 28 2019 1497 CTNS C0268626 Juvenile nephropathic cystinosis 219900 Feb 16 2016 1497 CTNS C2931187 Nephropathic cystinosis NCBI curation 219800 Sep 4 2016 1497 CTNS C2931013 Ocular cystinosis MONDO MONDO:0009064 219750 Apr 17 2020 1503 CTPS1 C4014617 Immunodeficiency 24 NCBI curation 615897 Feb 16 2016 11330 CTRC C0238339 Hereditary pancreatitis NCBI curation 167800 Feb 16 2016 5476 CTSA C0268233 Combined deficiency of sialidase AND beta galactosidase 256540 Feb 16 2016 1508 CTSB C0406756 Keratolytic winter erythema 148370 Feb 16 2016 1075 CTSC C1855627 Haim-Munk syndrome 245010 Feb 16 2016 1075 CTSC C0030360 Papillon-Lefèvre syndrome 245000 Feb 16 2016 1075 CTSC C4551681 Periodontitis, aggressive, 1 NCBI curation 170650 Feb 16 2016 1509 CTSD C1864669 Neuronal ceroid lipofuscinosis 10 MONDO MONDO:0012414 610127 Apr 22 2020 8722 CTSF C3715049 Ceroid lipofuscinosis, neuronal, 13 NCBI curation 615362 Feb 16 2016 1513 CTSK C0238402 Pyknodysostosis 265800 Feb 16 2016 348180 CTU2 C4748348 MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME OMIM 618142 618142 Oct 7 2018 8029 CUBN CN280936 PROTEINURIA, CHRONIC BENIGN OMIM 618884 618884 May 20 2020 8029 CUBN CN280937 Imerslund-Gräsbeck syndrome 1 NCBI curation 261100 May 20 2020 8452 CUL3 C3469606 Pseudohypoaldosteronism type 2E NCBI curation 614496 Feb 16 2016 8450 CUL4B C1845861 Syndromic X-linked mental retardation, Cabezas type NCBI curation 300354 Feb 16 2016 9820 CUL7 C1848862 Three M syndrome 1 NCBI curation 273750 Feb 16 2016 1523 CUX1 C5193032 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM 618330 618330 Feb 20 2019 23316 CUX2 C4748341 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 OMIM 618141 618141 Oct 7 2018 10283 CWC27 C1855188 Retinitis pigmentosa with or without skeletal anomalies NCBI curation 250410 Jun 20 2017 55280 CWF19L1 C4015301 Spinocerebellar ataxia, autosomal recessive 17 NCBI curation 616127 Feb 16 2016 1524 CX3CR1 C1846418 Coronary heart disease 1 NCBI curation 607339 Feb 16 2016 1524 CX3CR1 C3151079 Age-related macular degeneration 12 NCBI curation 613784 Feb 16 2016 1524 CX3CR1 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 6387 CXCL12 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 3577 CXCR1 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 7852 CXCR4 C0472817 Warts, hypogammaglobulinemia, infections, and myelokathexis 193670 Feb 16 2016 63932 CXorf56 C4692652 Intellectual disability, x-linked 107 MONDO MONDO:0049222 301013 Apr 17 2020 1534 CYB561 C4748569 ORTHOSTATIC HYPOTENSION 2 OMIM 618182 618182 Nov 16 2018 1528 CYB5A C4285231 Methemoglobinemia type 4 NCBI curation 250790 Feb 16 2016 1727 CYB5R3 C0268193 Deficiency of cytochrome-b5 reductase NCBI curation 250800 Feb 16 2016 1535 CYBA C1856255 Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NCBI curation 233690 Feb 16 2016 1536 CYBB C1844376 Chronic granulomatous disease, X-linked NCBI curation 306400 Feb 16 2016 1536 CYBB C1970859 Atypical mycobacteriosis, familial, X-linked 2 NCBI curation 300645 Feb 16 2016 1537 CYC1 C3809553 Mitochondrial complex III deficiency, nuclear type 6 NCBI curation 615453 May 26 2016 54205 CYCS C2677608 Thrombocytopenia 4 NCBI curation 612004 Feb 16 2016 26999 CYFIP2 C4693925 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 OMIM 618008 618008 Jun 7 2018 1540 CYLD C1275122 Familial multiple trichoepitheliomata 601606 Feb 16 2016 1540 CYLD C1857941 Brooke-Spiegler syndrome MONDO MONDO:0011512 605041 Apr 22 2020 1540 CYLD C1851526 Cylindromatosis, familial NCBI curation 132700 Feb 16 2016 1583 CYP11A1 C3151055 Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete NCBI curation 613743 Feb 16 2016 1584 CYP11B1 C0268292 Deficiency of steroid 11-beta-monooxygenase 202010 Feb 16 2016 1584 CYP11B1 C1260386 Hyperaldosteronism, familial, type I NCBI curation 103900 Aug 24 2016 1585 CYP11B2 C3463917 Corticosterone methyloxidase type 2 deficiency NCBI curation 610600 Feb 16 2016 1585 CYP11B2 CN074214 Corticosterone methyloxidase type 1 deficiency NCBI curation 203400 Feb 16 2016 1586 CYP17A1 C0268285 Deficiency of steroid 17-alpha-monooxygenase 202110 Feb 16 2016 1588 CYP19A1 C1970109 Aromatase excess syndrome MONDO MONDO:0007690 139300 May 5 2020 1588 CYP19A1 C1960539 Aromatase deficiency 613546 Feb 16 2016 1544 CYP1A2 CN077971 Clozapine response NCBI curation Feb 16 2016 1544 CYP1A2 CN417142 Ondansetron response NCBI curation Aug 28 2017 1545 CYP1B1 C1856439 Glaucoma 3, primary congenital, A NCBI curation 231300 May 17 2018 1545 CYP1B1 C1832977 Glaucoma 3, primary infantile, b NCBI curation 600975 Feb 16 2016 1545 CYP1B1 C4310623 Anterior segment dysgenesis 6 NCBI curation 617315 Jun 20 2017 1589 CYP21A2 C2936858 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Orphanet ORPHA90794 201910 Nov 18 2018 1591 CYP24A1 C4310232 Hypercalcemia, infantile, 1 NCBI curation 143880 Mar 21 2020 56603 CYP26B1 C3280729 Radiohumeral fusions with other skeletal and craniofacial anomalies NCBI curation 614416 Feb 16 2016 340665 CYP26C1 C3554246 Focal facial dermal dysplasia 4 NCBI curation 614974 Feb 16 2016 1593 CYP27A1 C0238052 Cholestanol storage disease 213700 Feb 16 2016 1594 CYP27B1 CN283242 Vitamin D-dependent rickets type 1A NCBI curation 264700 Jun 29 2020 1548 CYP2A6 C1861063 Tobacco addiction, susceptibility to NCBI curation 188890 Feb 16 2016 1548 CYP2A6 C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 1548 CYP2A6 C0750384 Warfarin response NCBI curation 122700 Feb 16 2016 1555 CYP2B6 C3281153 Efavirenz response NCBI curation 614546 Feb 16 2016 1557 CYP2C19 CN221264 Escitalopram response NCBI curation Feb 16 2016 1557 CYP2C19 CN176769 Amitriptyline response NCBI curation Feb 16 2016 1557 CYP2C19 CN221265 Sertraline response NCBI curation Feb 16 2016 1557 CYP2C19 CN221263 Citalopram response NCBI curation Feb 16 2016 1557 CYP2C19 CN221268 Selective serotonin reuptake inhibitor (SSRI) response NCBI curation Feb 16 2016 1557 CYP2C19 C2674941 Clopidogrel response NCBI curation Feb 16 2016 1557 CYP2C19 CN456489 Clobazam response NCBI curation Sep 12 2017 1557 CYP2C19 CN507895 Flibanserin response NCBI curation Oct 4 2017 1557 CYP2C19 CN474479 Dexlansoprazole response NCBI curation Sep 20 2017 1557 CYP2C19 CN474477 Lansoprazole response NCBI curation Sep 20 2017 1557 CYP2C19 CN474478 Pantoprazole response NCBI curation Sep 20 2017 1557 CYP2C19 CN221259 Trimipramine response NCBI curation Feb 16 2016 1557 CYP2C19 CN077978 Doxepin response Feb 16 2016 1557 CYP2C19 CN077982 Esomeprazole response NCBI curation Feb 16 2016 1557 CYP2C19 C1836023 CYP2C19-related poor drug metabolism NCBI curation 609535 Feb 16 2016 1557 CYP2C19 CN077957 Voriconazole response Feb 16 2016 1557 CYP2C19 CN781941 Brivaracetam response NCBI curation Feb 1 2018 1557 CYP2C19 CN781942 Lacosamide response NCBI curation Feb 1 2018 1557 CYP2C19 CN221257 Imipramine response NCBI curation Feb 16 2016 1558 CYP2C8 CN427421 Rosiglitazone response NCBI curation Sep 1 2017 1558 CYP2C8 C4693948 DRUG METABOLISM, ALTERED, CYP2C8-RELATED OMIM 618018 618018 Jun 22 2018 1558 CYP2C8 CN427422 Pioglitazone response NCBI curation Sep 1 2017 1559 CYP2C9 CN258188 Piroxicam response NCBI curation Feb 7 2019 1559 CYP2C9 C0750384 Warfarin response NCBI curation 122700 Feb 16 2016 1559 CYP2C9 CN258190 Dronabinol response NCBI curation Feb 7 2019 1559 CYP2C9 CN258139 Flurbiprofen response NCBI curation Jan 24 2019 1559 CYP2C9 CN248784 Lesinurad response NCBI curation Jul 3 2018 1565 CYP2D6 CN221254 Fluvoxamine response NCBI curation Feb 16 2016 1565 CYP2D6 CN221257 Imipramine response NCBI curation Feb 16 2016 1565 CYP2D6 CN258189 Deutetrabenazine response NCBI curation Feb 7 2019 1565 CYP2D6 CN427420 Eliglustat response NCBI curation Sep 1 2017 1565 CYP2D6 CN221259 Trimipramine response NCBI curation Feb 16 2016 1565 CYP2D6 CN417142 Ondansetron response NCBI curation Aug 28 2017 1565 CYP2D6 CN417143 Tropisetron response NCBI curation Aug 28 2017 1565 CYP2D6 C1837160 Codeine response NCBI curation Feb 16 2016 1565 CYP2D6 CN078018 Thioridazine response NCBI curation Feb 16 2016 1565 CYP2D6 CN077971 Clozapine response NCBI curation Feb 16 2016 1565 CYP2D6 C1837154 Disorder due cytochrome p450 CYP2D6 variant NCBI curation 608902 Feb 16 2016 1565 CYP2D6 CN077978 Doxepin response Feb 16 2016 1565 CYP2D6 CN078023 Tramadol response NCBI curation Feb 16 2016 1565 CYP2D6 CN221268 Selective serotonin reuptake inhibitor (SSRI) response NCBI curation Feb 16 2016 1565 CYP2D6 C1837159 Nortriptyline response NCBI curation Feb 16 2016 1565 CYP2D6 CN176769 Amitriptyline response NCBI curation Feb 16 2016 1565 CYP2D6 CN221255 Paroxetine response NCBI curation Feb 16 2016 1565 CYP2D6 CN233052 Desipramine response NCBI curation Feb 16 2016 1565 CYP2D6 CN078013 Tamoxifen response NCBI curation Feb 16 2016 120227 CYP2R1 C1838657 Vitamin d hydroxylation-deficient rickets, type 1b NCBI curation 600081 Feb 16 2016 113612 CYP2U1 C3539507 Spastic paraplegia 56, autosomal recessive NCBI curation 615030 Feb 16 2016 1576 CYP3A4 CN077982 Esomeprazole response NCBI curation Feb 16 2016 1576 CYP3A4 CN077971 Clozapine response NCBI curation Feb 16 2016 1576 CYP3A4 CN417142 Ondansetron response NCBI curation Aug 28 2017 1577 CYP3A5 C0085580 Essential hypertension 145500 Feb 16 2016 1577 CYP3A5 C3547403 Tacrolimus response NCBI curation Feb 16 2016 126410 CYP4F22 C1858133 Autosomal recessive congenital ichthyosis 5 NCBI curation 604777 Feb 16 2016 285440 CYP4V2 C1859486 Bietti crystalline corneoretinal dystrophy 210370 Feb 16 2016 9420 CYP7B1 C3151147 Bile acid synthesis defect, congenital, 3 NCBI curation 613812 Feb 16 2016 9420 CYP7B1 C1849115 Hereditary spastic paraplegia 5A MONDO MONDO:0010047 270800 Apr 17 2020 728294 D2HGDH C3152055 D-2-hydroxyglutaric aciduria 1 NCBI curation 600721 Feb 16 2016 1600 DAB1 C3889636 Spinocerebellar ataxia 37 NCBI curation 615945 Feb 16 2016 1602 DACH1 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 51339 DACT1 C4479534 Townes-Brocks syndrome 2 NCBI curation 617466 Jun 21 2017 1605 DAG1 C4225291 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 NCBI curation 616538 Aug 24 2016 1605 DAG1 C3151184 Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 NCBI curation 613818 Feb 16 2016 55152 DALRD3 CN282591 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86 OMIM 618910 618910 Jun 19 2020 267012 DAOA C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 1615 DARS1 C3809008 Hypomyelination with brainstem and spinal cord involvement and leg spasticity NCBI curation 615281 Feb 16 2016 55157 DARS2 C1970180 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO MONDO:0012622 611105 Apr 17 2020 1617 DAZ1 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 57055 DAZ2 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 57054 DAZ3 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 1621 DBH C4746777 Orthostatic hypotension 1 NCBI curation 223360 Dec 5 2019 1629 DBT C0024776 Maple syrup urine disease OMIM phenotypic series PS248600 248600 Feb 16 2016 1629 DBT C0024776 Maple syrup urine disease Orphanet ORPHA511 248600 Feb 16 2016 80067 DCAF17 C0342286 Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 241080 Feb 16 2016 50717 DCAF8 C4013360 Giant axonal neuropathy 2, autosomal dominant NCBI curation 610100 Aug 24 2016 1630 DCC C1834870 Mirror movements 1 NCBI curation 157600 Oct 23 2016 1630 DCC C4479640 Gaze palsy, familial horizontal, with progressive scoliosis, 2 MONDO MONDO:0054602 617542 Apr 17 2020 1630 DCC C0546837 Malignant tumor of esophagus NCBI curation 133239 Feb 16 2016 1630 DCC C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 51473 DCDC2 C1857750 Deafness, autosomal recessive 66 NCBI curation 610212 Feb 16 2016 51473 DCDC2 C4015542 Nephronophthisis 19 NCBI curation 616217 Feb 16 2016 51473 DCDC2 C4479344 Sclerosing cholangitis, neonatal NCBI curation 617394 Jun 20 2017 8642 DCHS1 C4551950 Van Maldergem syndrome 1 NCBI curation 601390 Oct 23 2016 8642 DCHS1 C1843003 Mitral valve prolapse 2 NCBI curation 607829 Aug 24 2016 1633 DCK CN188728 Gemcitabine response NCBI curation Feb 16 2016 64421 DCLRE1C C2700553 Histiocytic medullary reticulosis NCBI curation 603554 Feb 16 2016 64421 DCLRE1C C1865370 Severe combined immunodeficiency due to DCLRE1C deficiency MONDO MONDO:0011225 602450 Apr 17 2020 1634 DCN C1864738 Congenital Stromal Corneal Dystrophy GeneReviews NBK2690 610048 Feb 16 2016 28960 DCPS C4085595 AL-RAQAD SYNDROME OMIM 616459 616459 Feb 16 2016 1639 DCTN1 C1862939 Amyotrophic lateral sclerosis type 1 NCBI curation 105400 Feb 16 2016 1639 DCTN1 C1868594 Perry syndrome 168605 Feb 16 2016 1639 DCTN1 C1843315 Distal hereditary motor neuronopathy type 7B NCBI curation 607641 Feb 16 2016 10540 DCTN2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 Feb 16 2016 1641 DCX C4551968 Lissencephaly, X-linked NCBI curation 300067 Feb 16 2016 51181 DCXR C0268162 Essential pentosuria NCBI curation 260800 Feb 16 2016 1643 DDB2 C1848411 Xeroderma pigmentosum, group E NCBI curation 278740 Feb 16 2016 1644 DDC C1291564 Deficiency of aromatic-L-amino-acid decarboxylase 608643 Feb 16 2016 80821 DDHD1 C1836295 Spastic paraplegia 28, autosomal recessive NCBI curation 609340 Feb 16 2016 23259 DDHD2 C3539495 Spastic paraplegia 54, autosomal recessive NCBI curation 615033 Feb 16 2016 1650 DDOST C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 Feb 16 2016 1650 DDOST C3281084 Congenital disorder of glycosylation type Ir NCBI curation 614507 Sep 6 2018 4921 DDR2 C1849011 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO MONDO:0010077 271665 Apr 17 2020 4921 DDR2 C5193019 Warburg-Cinotti syndrome NCBI curation 618175 Feb 24 2019 65992 DDRGK1 C1865185 Spondyloepimetaphyseal dysplasia, Shohat type MONDO MONDO:0011252 602557 Apr 22 2020 1663 DDX11 C3150658 Warsaw breakage syndrome NCBI curation 613398 Feb 16 2016 1654 DDX3X C4085582 Mental retardation, X-linked 102 NCBI curation 300958 Feb 16 2016 8653 DDX3Y C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 51428 DDX41 C4225174 Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to NCBI curation 616871 Aug 24 2016 23586 DDX58 C4225380 Singleton-Merten syndrome 2 NCBI curation 616298 Feb 16 2016 83479 DDX59 C1868118 Orofaciodigital syndrome V MONDO MONDO:0008267 174300 Apr 17 2020 1656 DDX6 C5231444 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES OMIM 618653 618653 Nov 10 2019 10522 DEAF1 C4310683 Dyskinesia, seizures, and intellectual developmental disorder NCBI curation 617171 Jun 20 2017 10522 DEAF1 C4014414 Mental retardation, autosomal dominant 24 NCBI curation 615828 Feb 16 2016 8560 DEGS1 C5193078 LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM 618404 618404 May 2 2019 23258 DENND5A C4310635 Epileptic encephalopathy, early infantile, 49 NCBI curation 617281 Jun 20 2017 9681 DEPDC5 C4551983 Epilepsy, familial focal, with variable foci 1 NCBI curation 604364 Jun 20 2017 1674 DES C1858154 Dilated cardiomyopathy 1I NCBI curation C1858154 604765 Feb 16 2016 1674 DES C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 1674 DES C1832370 Myofibrillar myopathy 1 NCBI curation 601419 Feb 16 2016 1674 DES C1867005 Neurogenic scapuloperoneal syndrome, Kaeser type MONDO MONDO:0008407 181400 Apr 22 2020 8694 DGAT1 C4014516 Diarrhea 7 NCBI curation 615863 Feb 16 2016 9993 DGCR2 C0220704 Shprintzen syndrome NCBI curation 192430 Feb 16 2016 8214 DGCR6 C0220704 Shprintzen syndrome NCBI curation 192430 Feb 16 2016 54487 DGCR8 C0220704 Shprintzen syndrome NCBI curation 192430 Feb 16 2016 8526 DGKE C3554330 Nephrotic syndrome, type 7 NCBI curation 615008 Feb 16 2016 8526 DGKE C0268743 Mesangiocapillary glomerulonephritis, type II NCBI curation Feb 16 2016 1716 DGUOK C3151513 Mitochondrial DNA-depletion syndrome 3, hepatocerebral NCBI curation 251880 Feb 16 2016 1716 DGUOK C4310735 Portal hypertension, noncirrhotic NCBI curation 617068 Aug 24 2016 1716 DGUOK C4310733 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 NCBI curation 617070 Aug 24 2016 1718 DHCR24 C1865596 Desmosterolosis 602398 Feb 16 2016 1717 DHCR7 C0175694 Smith-Lemli-Opitz syndrome NCBI curation 270400 Apr 8 2016 79947 DHDDS C3151227 Retinitis pigmentosa 59 NCBI curation 613861 Feb 16 2016 79947 DHDDS C4693376 DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES OMIM 617836 617836 Jan 27 2018 1719 DHFR C3151205 Megaloblastic anemia due to dihydrofolate reductase deficiency NCBI curation 613839 Feb 16 2016 50846 DHH C2751325 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy NCBI curation 607080 Feb 16 2016 50846 DHH C1856273 46,XY sex reversal, type 7 NCBI curation 233420 Feb 16 2016 1723 DHODH C0265257 Miller syndrome NCBI curation 263750 Feb 16 2016 1725 DHPS C5193119 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT OMIM 618480 618480 Jun 26 2019 107305681 DHS6S1 C0730294 North Carolina macular dystrophy 136550 Feb 16 2016 55526 DHTKD1 C1859817 2-aminoadipic 2-oxoadipic aciduria NCBI curation 204750 Aug 24 2016 55526 DHTKD1 C3554366 Charcot-Marie-Tooth disease, axonal, type 2Q NCBI curation 615025 Feb 16 2016 8449 DHX16 C5231483 NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES OMIM 618733 618733 Jan 11 2020 22907 DHX30 C4540496 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE OMIM 617804 617804 Dec 20 2017 57647 DHX37 C5231481 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES OMIM 618731 618731 Jan 11 2020 57647 DHX37 C0266427 46,XY sex reversal 11 NCBI curation 273250 Apr 24 2020 9785 DHX38 C4748725 Retinitis pigmentosa 84 NCBI curation 618220 Mar 8 2019 56616 DIABLO C3279948 Deafness, autosomal dominant 64 NCBI curation 614152 Feb 16 2016 1729 DIAPH1 C1852282 Deafness, autosomal dominant 1 NCBI curation 124900 Feb 16 2016 1729 DIAPH1 C4225261 Seizures, cortical blindness, and microcephaly syndrome NCBI curation 616632 Feb 16 2016 1730 DIAPH2 C1845293 Premature ovarian failure 2a NCBI curation 300511 Feb 16 2016 81624 DIAPH3 C1836743 Auditory neuropathy, autosomal dominant, 1 NCBI curation 609129 Feb 16 2016 23405 DICER1 C0018022 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors NCBI curation 138800 Nov 5 2017 23405 DICER1 C1867234 Rhabdomyosarcoma, embryonal, 2 NCBI curation 180295 Feb 16 2016 23405 DICER1 C4748924 Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO MONDO:0018445 618272 May 28 2020 23405 DICER1 C3839822 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome NCBI curation 601200 Feb 16 2016 57609 DIP2B C1969893 Mental retardation, fra12a type NCBI curation 136630 Feb 16 2016 129563 DIS3L2 C0796113 Perlman syndrome MONDO MONDO:0009965 267000 Apr 17 2020 27185 DISC1 C1858050 Schizophrenia 9 NCBI curation 604906 Feb 16 2016 27184 DISC2 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 1736 DKC1 C1846142 Hoyeraal-Hreidarsson syndrome MONDO MONDO:0018045 Apr 22 2020 1736 DKC1 C1148551 Dyskeratosis congenita, X-linked MONDO MONDO:0010584 305000 Apr 22 2020 1737 DLAT C1855565 Pyruvate dehydrogenase E2 deficiency NCBI curation 245348 Feb 16 2016 10395 DLC1 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 1738 DLD CN043137 Maple syrup urine disease, type 3 NCBI curation 246900 Feb 16 2016 1741 DLG3 C3275443 X-Linked mental retardation 90 NCBI curation 300850 Feb 16 2016 1742 DLG4 CN263332 INTELLECTUAL DEVELOPMENTAL DISORDER 62 OMIM 618793 618793 Feb 29 2020 28514 DLL1 C5231470 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES OMIM 618709 618709 Dec 22 2019 10683 DLL3 CN032975 Spondylocostal dysostosis 1, autosomal recessive NCBI curation 277300 Aug 24 2016 54567 DLL4 C4225271 Adams-Oliver syndrome 6 NCBI curation 616589 Feb 16 2016 1743 DLST C5193116 PARAGANGLIOMAS 7 OMIM 618475 618475 Jun 26 2019 1747 DLX3 C0265333 Tricho-dento-osseous syndrome 190320 Feb 16 2016 1747 DLX3 C1863012 Amelogenesis imperfecta, type IV NCBI curation 104510 Nov 9 2016 1748 DLX4 C4225209 Orofacial cleft 15 NCBI curation 616788 Feb 16 2016 1749 DLX5 C2931019 Split-hand/foot malformation 1 NCBI curation 183600 Feb 16 2016 1749 DLX5 C1857344 Split-hand/foot malformation 1 with sensorineural hearing loss NCBI curation 220600 Feb 16 2016 1756 DMD C0917713 Becker muscular dystrophy 300376 Feb 16 2016 1756 DMD C3668940 Dilated cardiomyopathy 3B NCBI curation 302045 Feb 16 2016 1756 DMD C0013264 Duchenne muscular dystrophy NCBI curation 310200 Feb 16 2016 29958 DMGDH C1853892 Dimethylglycine dehydrogenase deficiency NCBI curation 605850 Feb 16 2016 1758 DMP1 C4551495 Autosomal recessive hypophosphatemic vitamin D refractory rickets 241520 Feb 16 2016 1760 DMPK C3250443 Steinert myotonic dystrophy syndrome 160900 Feb 16 2016 23312 DMXL2 C5231450 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 OMIM 618663 618663 Nov 22 2019 23312 DMXL2 C4015261 Polyendocrine-polyneuropathy syndrome NCBI curation 616113 Feb 16 2016 23312 DMXL2 C4539881 DEAFNESS, AUTOSOMAL DOMINANT 71 OMIM 617605 617605 Aug 9 2017 1763 DNA2 C3554599 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 NCBI curation 615156 Feb 16 2016 1763 DNA2 C3891452 Seckel syndrome 8 NCBI curation 615807 Feb 16 2016 123872 DNAAF1 C2750790 Ciliary dyskinesia, primary, 13 NCBI curation 613193 Feb 16 2016 55172 DNAAF2 C2675867 Ciliary dyskinesia, primary, 10 NCBI curation 612518 Feb 16 2016 352909 DNAAF3 C1847554 Ciliary dyskinesia, primary, 2 NCBI curation 606763 Feb 16 2016 161582 DNAAF4 C3809641 Primary ciliary dyskinesia 25 NCBI curation 615482 Feb 16 2016 161582 DNAAF4 C1851967 Dyslexia 1 NCBI curation 127700 Feb 16 2016 54919 DNAAF5 C3543825 Ciliary dyskinesia, primary, 18 NCBI curation 614874 Feb 16 2016 54919 DNAAF5 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 Jul 20 2019 139212 DNAAF6 C4478372 Ciliary dyskinesia, primary, 36, X-linked NCBI curation 300991 Jun 20 2017 25981 DNAH1 C4539798 Ciliary dyskinesia, primary, 37 NCBI curation 617577 Aug 28 2018 25981 DNAH1 C4539783 SPERMATOGENIC FAILURE 18 OMIM 617576 617576 Jul 22 2017 8701 DNAH11 C2678473 Ciliary dyskinesia, primary, 7 NCBI curation 611884 Feb 16 2016 8632 DNAH17 C5231438 SPERMATOGENIC FAILURE 39 OMIM 618643 618643 Oct 27 2019 1767 DNAH5 C1837618 Ciliary dyskinesia, primary, 3 NCBI curation 608644 Feb 16 2016 1770 DNAH9 C4749028 CILIARY DYSKINESIA, PRIMARY, 40 OMIM 618300 618300 Jan 31 2019 27019 DNAI1 C4551906 Kartagener syndrome NCBI curation 244400 Feb 16 2016 64446 DNAI2 C2676235 Ciliary dyskinesia, primary, 9 NCBI curation 612444 Feb 16 2016 51726 DNAJB11 C4748044 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE OMIM 618061 618061 Jul 29 2018 374407 DNAJB13 C4310722 Ciliary dyskinesia, primary, 34 NCBI curation 617091 Jun 20 2017 3300 DNAJB2 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation Feb 16 2016 3300 DNAJB2 C3553989 Spinal muscular atrophy, distal, autosomal recessive, 5 NCBI curation 614881 Feb 16 2016 10049 DNAJB6 C4721885 Limb-girdle muscular dystrophy, type 1E NCBI curation 603511 Feb 16 2016 56521 DNAJC12 C4479270 Hyperphenylalaninemia, mild, non-bh4-deficient NCBI curation 617384 Jun 20 2017 131118 DNAJC19 C1857776 3-methylglutaconic aciduria type V NCBI curation 610198 Feb 16 2016 134218 DNAJC21 C4310744 Bone marrow failure syndrome 3 NCBI curation 617052 Aug 24 2016 134218 DNAJC21 C4692625 Shwachman-Diamond syndrome 1 NCBI curation 260400 Feb 6 2020 134218 DNAJC21 C0272170 Shwachman syndrome Feb 6 2020 5611 DNAJC3 C4015436 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus NCBI curation 616192 Feb 16 2016 80331 DNAJC5 C1834207 Neuronal ceroid lipofuscinosis 4B MONDO MONDO:0008083 162350 Apr 17 2020 9829 DNAJC6 C3809811 Parkinson disease 19a, juvenile-onset NCBI curation 615528 Aug 24 2016 83544 DNAL1 C3151460 Ciliary dyskinesia, primary, 16 NCBI curation 614017 Feb 16 2016 10126 DNAL4 C4015124 Mirror movements 3 NCBI curation 616059 Feb 16 2016 1773 DNASE1 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 Feb 16 2016 1776 DNASE1L3 C3280742 Systemic lupus erythematosus 16 NCBI curation 614420 Feb 16 2016 1759 DNM1 C4225357 Epileptic encephalopathy, early infantile, 31 NCBI curation 616346 Feb 16 2016 10059 DNM1L C3280660 Encephalopathy due to defective mitochondrial and peroxisomal fission 1 NCBI curation 614388 Jun 18 2017 10059 DNM1L C1853139 Optic atrophy 5 NCBI curation 610708 Jun 10 2020 1785 DNM2 C4551952 Myopathy, centronuclear, 1 NCBI curation 160150 Feb 16 2016 1785 DNM2 C3809272 Lethal congenital contracture syndrome 5 NCBI curation 615368 Feb 16 2016 1785 DNM2 C1847902 Charcot-Marie-Tooth disease, dominant intermediate B NCBI curation 606482 Sep 21 2018 23268 DNMBP C5193082 CATARACT 48 OMIM 618415 618415 May 8 2019 1786 DNMT1 C3807295 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant NCBI curation 604121 Aug 24 2016 1786 DNMT1 C3279885 Hereditary sensory neuropathy type IE NCBI curation 614116 Feb 16 2016 1788 DNMT3A C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 1788 DNMT3A C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 1788 DNMT3A C5231475 HEYN-SPROUL-JACKSON SYNDROME OMIM 618724 618724 Jan 4 2020 1788 DNMT3A C4014545 Tatton-Brown-rahman syndrome NCBI curation 615879 Feb 16 2016 1789 DNMT3B C4551557 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 NCBI curation 242860 Feb 1 2020 1794 DOCK2 C4225328 Immunodeficiency 40 NCBI curation 616433 Feb 16 2016 1795 DOCK3 C4749014 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA OMIM 618292 618292 Jan 26 2019 57572 DOCK6 C3280182 Adams-Oliver syndrome 2 NCBI curation 614219 Feb 16 2016 85440 DOCK7 C4014492 Epileptic encephalopathy, early infantile, 23 NCBI curation 615859 Feb 16 2016 81704 DOCK8 C4722305 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive NCBI curation 243700 Feb 16 2016 285489 DOK7 C4760599 FETAL AKINESIA DEFORMATION SEQUENCE 3 OMIM 618389 618389 Apr 13 2019 285489 DOK7 C1850792 Myasthenia, limb-girdle, familial NCBI curation 254300 Feb 16 2016 22845 DOLK C1835849 Congenital disorder of glycosylation type 1M NCBI curation 610768 Feb 16 2016 29980 DONSON C1855079 Microcephaly-micromelia syndrome NCBI curation 251230 Feb 16 2016 29980 DONSON C4539873 MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES OMIM 617604 617604 Aug 6 2017 1798 DPAGT1 C2931004 DPAGT1-CDG MONDO MONDO:0011964 608093 Apr 17 2020 1798 DPAGT1 C3553645 Congenital myasthenic syndrome 13 NCBI curation 614750 Apr 13 2016 5977 DPF2 C4747954 COFFIN-SIRIS SYNDROME 7 OMIM 618027 618027 Jun 30 2018 1801 DPH1 C4310801 Developmental delay with short stature, dysmorphic features, and sparse hair NCBI curation 616901 Dec 31 2019 8813 DPM1 C1837396 Congenital disorder of glycosylation type 1E 608799 Feb 16 2016 8818 DPM2 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 Feb 16 2016 8818 DPM2 C3554385 Congenital disorder of glycosylation type 1u NCBI curation 615042 Feb 16 2016 54344 DPM3 C2752007 Congenital disorder of glycosylation type 1O NCBI curation 612937 Feb 16 2016 1804 DPP6 C4225375 Mental retardation, autosomal dominant 33 NCBI curation 616311 Feb 16 2016 1804 DPP6 C2751829 Ventricular fibrillation, paroxysmal familial, 2 NCBI curation 612956 Feb 16 2016 283417 DPY19L2 C3151407 Spermatogenic failure 9 NCBI curation 613958 Feb 16 2016 1806 DPYD C1852514 Tegafur response NCBI curation Feb 16 2016 1806 DPYD C1959620 Dihydropyrimidine dehydrogenase deficiency NCBI curation 274270 Feb 16 2016 1806 DPYD CN184090 Fluoropyrimidine response NCBI curation Feb 16 2016 1806 DPYD CN077963 Capecitabine response NCBI curation Feb 16 2016 1807 DPYS C0342803 Dihydropyrimidinase deficiency 222748 Feb 16 2016 128338 DRAM2 C4049066 Cone-rod dystrophy 21 NCBI curation 616502 Feb 16 2016 92749 DRC1 C3809087 Ciliary dyskinesia, primary, 21 NCBI curation 615294 Feb 16 2016 1814 DRD3 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 1814 DRD3 C1860861 Hereditary essential tremor 1 NCBI curation 190300 Feb 16 2016 1815 DRD4 C1263846 Attention deficit hyperactivity disorder Human Phenotype Ontology HP:0007018 143465 Feb 16 2016 1816 DRD5 C1263846 Attention deficit hyperactivity disorder Human Phenotype Ontology HP:0007018 143465 Feb 16 2016 1816 DRD5 C4692845 Blepharospasm Human Phenotype Ontology HP:0000643 606798 Feb 16 2016 1821 DRP2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 Feb 16 2016 1824 DSC2 C1864850 Arrhythmogenic right ventricular cardiomyopathy, type 11 NCBI curation 610476 Feb 16 2016 1825 DSC3 C2751292 Hypotrichosis and recurrent skin vesicles NCBI curation 613102 Feb 16 2016 29940 DSE C3809845 Ehlers-Danlos syndrome, musculocontractural type 2 NCBI curation 615539 Feb 16 2016 1828 DSG1 C3809719 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige NCBI curation 615508 Feb 16 2016 1828 DSG1 C2931122 Palmoplantar keratoderma i, striate, focal, or diffuse MONDO MONDO:0007859 148700 Apr 22 2020 1829 DSG2 C1857777 Arrhythmogenic right ventricular cardiomyopathy, type 10 NCBI curation 610193 Feb 16 2016 1829 DSG2 C2752072 Dilated cardiomyopathy 1BB NCBI curation CN035480 612877 Feb 16 2016 1829 DSG2 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 147409 DSG4 C1842839 Hypotrichosis 6 NCBI curation 607903 Feb 16 2016 1832 DSP C1843292 Skin fragility-woolly hair-palmoplantar keratoderma syndrome MONDO MONDO:0011882 607655 Apr 17 2020 1832 DSP C4014393 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis NCBI curation 615821 Feb 16 2016 1832 DSP C1854063 Dilated cardiomyopathy with woolly hair and keratoderma NCBI curation 605676 May 3 2018 1832 DSP C1843896 Arrhythmogenic right ventricular cardiomyopathy, type 8 NCBI curation 607450 Feb 16 2016 1832 DSP C1852127 Keratosis palmoplantaris striata II NCBI curation 612908 May 26 2016 1832 DSP C1864826 Lethal acantholytic epidermolysis bullosa MONDO MONDO:0012323 609638 Apr 22 2020 1834 DSPP C0399380 Denticles 125420 Feb 16 2016 1834 DSPP C2973527 Dentinogenesis imperfecta - Shield's type II 125490 Feb 16 2016 1834 DSPP C0399378 Dentinogenesis imperfecta - Shield's type III 125500 Feb 16 2016 1834 DSPP C1854146 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 NCBI curation 605594 Feb 16 2016 667 DST C3809470 Epidermolysis bullosa simplex, autosomal recessive 2 NCBI curation 615425 Feb 16 2016 667 DST C3539003 Neuropathy, hereditary sensory and autonomic, type VI NCBI curation 614653 May 26 2016 25778 DSTYK C1835826 Congenital anomalies of kidney and urinary tract 1, susceptibility to NCBI curation 610805 Aug 24 2016 25778 DSTYK C0796019 Hereditary spastic paraplegia 23 MONDO MONDO:0010046 270750 Apr 17 2020 1837 DTNA C1858725 Left ventricular noncompaction 1 NCBI curation 604169 Feb 16 2016 84062 DTNBP1 C3279756 Hermansky-Pudlak syndrome 7 NCBI curation 614076 Feb 16 2016 50506 DUOX2 C1846632 Thyroid dyshormonogenesis 6 NCBI curation 607200 Feb 16 2016 405753 DUOXA2 C0342196 Thyroglobulin synthesis defect 274900 Feb 16 2016 1848 DUSP6 C3808981 Hypogonadotropic hypogonadism 19 with or without anosmia NCBI curation 615269 Feb 16 2016 1848 DUSP6 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 1855 DVL1 C4225363 Robinow syndrome, autosomal dominant 2 NCBI curation 616331 Feb 16 2016 1855 DVL1 C4551475 Robinow syndrome, autosomal dominant 1 NCBI curation 180700 Dec 21 2019 1857 DVL3 C4551475 Robinow syndrome, autosomal dominant 1 NCBI curation 180700 Dec 21 2019 1857 DVL3 C4225164 Robinow syndrome, autosomal dominant 3 NCBI curation 616894 May 26 2016 54808 DYM C3888088 Smith-McCort dysplasia 1 NCBI curation 607326 Oct 23 2016 54808 DYM C0265286 Dyggve-Melchior-Clausen syndrome 223800 Feb 16 2016 1778 DYNC1H1 C3281202 Mental retardation, autosomal dominant 13 NCBI curation 614563 Feb 16 2016 1778 DYNC1H1 C3280220 Charcot-Marie-Tooth disease, axonal, type 2O NCBI curation 614228 Feb 16 2016 1778 DYNC1H1 C1834690 Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant NCBI curation 158600 Feb 16 2016 1781 DYNC1I2 C5193123 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES OMIM 618492 618492 Jul 4 2019 79659 DYNC2H1 C0036069 Short-rib thoracic dysplasia 3 with or without polydactyly NCBI curation 613091 Feb 16 2016 55112 DYNC2I1 C3809691 Short-rib thoracic dysplasia 8 with or without polydactyly NCBI curation 615503 Aug 24 2016 89891 DYNC2I2 C3810200 Short-rib thoracic dysplasia 11 with or without polydactyly NCBI curation 615633 Feb 16 2016 51626 DYNC2LI1 C4310724 Short-rib thoracic dysplasia 15 with polydactyly NCBI curation 617088 Jun 20 2017 1859 DYRK1A C3279839 Mental retardation, autosomal dominant 7 NCBI curation 614104 Feb 16 2016 9149 DYRK1B C4014361 Abdominal obesity-metabolic syndrome 3 NCBI curation 615812 Feb 16 2016 8291 DYSF C1850889 Autosomal recessive limb-girdle muscular dystrophy type 2B MONDO MONDO:0009676 253601 Apr 17 2020 8291 DYSF C1850808 Miyoshi muscular dystrophy 1 NCBI curation 254130 Feb 16 2016 8291 DYSF C1847532 Myopathy, distal, with anterior tibial onset NCBI curation 606768 Feb 16 2016 8291 DYSF C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 Feb 16 2016 8291 DYSF C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 Feb 16 2016 199221 DZIP1L C4539903 POLYCYSTIC KIDNEY DISEASE 5 OMIM 617610 617610 Aug 9 2017 124454 EARS2 C3554079 Combined oxidative phosphorylation deficiency 12 NCBI curation 614924 Feb 16 2016 253738 EBF3 C4310618 Hypotonia, ataxia, and delayed development syndrome NCBI curation 617330 Jun 20 2017 10682 EBP C4085243 MEND syndrome NCBI curation 300960 Feb 16 2016 10682 EBP C0282102 Chondrodysplasia punctata 2 X-linked dominant NCBI curation 302960 May 28 2020 1889 ECE1 C0085580 Essential hypertension 145500 Feb 16 2016 1889 ECE1 C3151237 Hirschsprung disease, cardiac defects, and autonomic dysfunction NCBI curation 613870 Feb 16 2016 9427 ECEL1 C3554415 Distal arthrogryposis type 5D NCBI curation 615065 Sep 16 2018 1892 ECHS1 C4225391 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency NCBI curation 616277 Feb 16 2016 1893 ECM1 C0023795 Lipid proteinosis 247100 Feb 16 2016 1896 EDA C1970757 Tooth agenesis, selective, X-linked, 1 NCBI curation 313500 Feb 16 2016 1896 EDA C0162359 Hypohidrotic X-linked ectodermal dysplasia NCBI curation 305100 Feb 16 2016 10913 EDAR C3887494 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 224900 Feb 16 2016 10913 EDAR C3888065 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO MONDO:0007509 129490 May 6 2020 10913 EDAR C2675460 Hair morphology 1 NCBI curation 612630 Feb 16 2016 128178 EDARADD C3888065 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO MONDO:0007509 129490 May 6 2020 128178 EDARADD C3539920 Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive NCBI curation 614941 Feb 16 2016 128178 EDARADD C3541517 Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant NCBI curation 614940 Feb 16 2016 128178 EDARADD C3887494 Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 224900 Feb 16 2016 80153 EDC3 C4225319 Mental retardation, autosomal recessive 50 NCBI curation 616460 Feb 16 2016 1906 EDN1 C2748545 Question mark ears, isolated NCBI curation 612798 Feb 16 2016 1906 EDN1 C3810332 Auriculocondylar syndrome 3 NCBI curation 615706 Feb 16 2016 1908 EDN3 C1275808 Congenital central hypoventilation NCBI curation 209880 Feb 16 2016 1908 EDN3 C2750457 Waardenburg syndrome type 4B NCBI curation 613265 Feb 16 2016 1908 EDN3 C3150975 Hirschsprung disease 4 NCBI curation 613712 Feb 16 2016 1909 EDNRA C4225349 Mandibulofacial dysostosis with alopecia NCBI curation 616367 Feb 16 2016 1909 EDNRA C3887485 Migraine Human Phenotype Ontology HP:0002076 157300 Feb 16 2016 1910 EDNRB C1848519 Waardenburg syndrome type 4A NCBI curation 277580 Feb 16 2016 1910 EDNRB C1838564 Hirschsprung disease 2 NCBI curation 600155 Feb 16 2016 1910 EDNRB C1838099 ABCD syndrome 600501 Feb 16 2016 8726 EED C4479654 Cohen-Gibson syndrome NCBI curation 617561 Jul 30 2017 1917 EEF1A2 C4225343 Mental retardation, autosomal dominant 38 NCBI curation 616393 Feb 16 2016 1917 EEF1A2 C4225337 Epileptic encephalopathy, early infantile, 33 NCBI curation 616409 Feb 16 2016 51603 EEF1AKNMT C1854274 Deafness, autosomal recessive 26, modifier of NCBI curation 605429 Sep 21 2018 1938 EEF2 C1836395 Spinocerebellar ataxia type 26 MONDO MONDO:0012246 609306 Apr 22 2020 2202 EFEMP1 C1832174 Doyne honeycomb retinal dystrophy 126600 Feb 16 2016 30008 EFEMP2 C3280798 Autosomal recessive cutis laxa type 1B NCBI curation 614437 Feb 16 2016 114327 EFHC1 C0270853 Juvenile myoclonic epilepsy 254770 Feb 16 2016 114327 EFHC1 C2750892 Epilepsy, juvenile absence, susceptibility to, 1 NCBI curation 607631 Jan 2 2020 79631 EFL1 C4693704 SHWACHMAN-DIAMOND SYNDROME 2 OMIM 617941 617941 Apr 21 2018 1947 EFNB1 C0220767 Craniofrontonasal syndrome MONDO MONDO:0010570 304110 Apr 22 2020 9343 EFTUD2 C1864652 Mandibulofacial dysostosis-microcephaly syndrome MONDO MONDO:0012516 610536 Apr 17 2020 1950 EGF C2673648 Hypomagnesemia 4, renal NCBI curation 611718 Feb 16 2016 1956 EGFR C4015130 Inflammatory skin and bowel disease, neonatal, 2 NCBI curation 616069 Feb 16 2016 1956 EGFR C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 54583 EGLN1 C1836778 Hemoglobin, high altitude adaptation NCBI curation 609070 Aug 24 2016 54583 EGLN1 C1853286 Erythrocytosis, familial, 3 NCBI curation 609820 Feb 16 2016 1959 EGR2 C0011195 Dejerine-Sottas disease NCBI curation 145900 Feb 16 2016 1959 EGR2 C4721436 Congenital hypomyelinating neuropathy 1, autosomal recessive NCBI curation 605253 Nov 30 2018 1959 EGR2 C1843247 Charcot-Marie-Tooth disease, demyelinating, type 1d NCBI curation 607678 Aug 24 2016 23301 EHBP1 C2678479 Prostate cancer, hereditary, 12 NCBI curation 611868 Feb 16 2016 1962 EHHADH C3810100 Fanconi renotubular syndrome 3 NCBI curation 615605 Feb 16 2016 79813 EHMT1 C0795833 Kleefstra syndrome 1 NCBI curation 610253 Jan 2 2020 27102 EIF2AK1 CN280927 LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME OMIM 618878 618878 May 15 2020 5610 EIF2AK2 CN280926 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME OMIM 618877 618877 May 15 2020 9451 EIF2AK3 C0432217 Wolcott-Rallison dysplasia 226980 Feb 16 2016 440275 EIF2AK4 C0340848 Pulmonary venoocclusive disease 2, autosomal recessive NCBI curation 234810 Dec 25 2019 1967 EIF2B1 C1858991 Leukoencephalopathy with vanishing white matter 603896 Feb 16 2016 8892 EIF2B2 C1858991 Leukoencephalopathy with vanishing white matter 603896 Feb 16 2016 8891 EIF2B3 C1858991 Leukoencephalopathy with vanishing white matter 603896 Feb 16 2016 8890 EIF2B4 C1858991 Leukoencephalopathy with vanishing white matter 603896 Feb 16 2016 8893 EIF2B5 C1858991 Leukoencephalopathy with vanishing white matter 603896 Feb 16 2016 1968 EIF2S3 C1846278 MEHMO syndrome NCBI curation 300148 Jan 20 2018 8665 EIF3F C4749019 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 OMIM 618295 618295 Jan 26 2019 9775 EIF4A3 C1849348 Richieri Costa-Pereira syndrome MONDO MONDO:0009998 268305 Apr 22 2020 1977 EIF4E C3554495 Autism, susceptibility to, 19 NCBI curation 615091 Feb 16 2016 1981 EIF4G1 C3280271 Parkinson disease 18 NCBI curation 614251 Feb 16 2016 60528 ELAC2 C3809526 Combined oxidative phosphorylation deficiency 17 NCBI curation 615440 Feb 16 2016 60528 ELAC2 C3539120 Prostate cancer, hereditary, 2 NCBI curation 614731 Feb 16 2016 1991 ELANE C1859966 Neutropenia, severe congenital 1, autosomal dominant NCBI curation 202700 Jun 24 2019 1991 ELANE C0221023 Cyclical neutropenia 162800 Feb 16 2016 63916 ELMO2 C1847197 Vascular malformation, primary intraosseous NCBI curation 606893 Feb 16 2016 84173 ELMOD3 C2829267 Deafness, autosomal recessive 88 NCBI curation 615429 Feb 16 2016 2006 ELN C0003499 Supravalvar aortic stenosis 185500 Feb 16 2016 2006 ELN C0175702 Williams syndrome 194050 Feb 16 2016 2006 ELN C3276539 Cutis laxa, autosomal dominant 1 NCBI curation 123700 May 12 2017 64834 ELOVL1 C5193147 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES OMIM 618527 618527 Aug 10 2019 6785 ELOVL4 C1838644 Stargardt Disease 3 NCBI curation 600110 Feb 16 2016 6785 ELOVL4 C1851481 Spinocerebellar ataxia type 34 MONDO MONDO:0007574 133190 Apr 22 2020 6785 ELOVL4 C3280856 Ichthyosis, spastic quadriplegia, and mental retardation NCBI curation 614457 Feb 16 2016 60481 ELOVL5 C4518337 Spinocerebellar ataxia 38 NCBI curation 615957 Feb 16 2016 8518 ELP1 C0013364 Familial dysautonomia 223900 Feb 16 2016 55250 ELP2 C4310641 Mental retardation, autosomal recessive 58 NCBI curation 617270 Jun 20 2017 26610 ELP4 C0344543 Aniridia 2 NCBI curation 617141 Jun 20 2017 23065 EMC1 C4225172 Cerebellar atrophy, visual impairment, and psychomotor retardation NCBI curation 616875 May 26 2016 2010 EMD C0751337 Emery-Dreifuss muscular dystrophy 1, X-linked NCBI curation 310300 Feb 16 2016 10436 EMG1 C1859405 Bowen-Conradi syndrome 211180 Feb 16 2016 2009 EML1 C4284594 Band heterotopia NCBI curation 600348 Jun 20 2017 2013 EMP2 C4014507 Nephrotic syndrome, type 10 NCBI curation 615861 Feb 16 2016 2018 EMX2 C0266484 SCHIZENCEPHALY OMIM 269160 269160 May 20 2016 10117 ENAM C2673923 Amelogenesis imperfecta, type IC NCBI curation 204650 Feb 16 2016 10117 ENAM C0399368 Amelogenesis imperfecta - hypoplastic autosomal dominant - local 104500 Feb 16 2016 2022 ENG C4551861 Hereditary hemorrhagic telangiectasia type 1 NCBI curation 187300 Jan 20 2020 2027 ENO3 C2752027 Glycogen storage disease due to muscle beta-enolase deficiency MONDO MONDO:0013046 612932 Apr 17 2020 5167 ENPP1 C2750078 Hypophosphatemic rickets, autosomal recessive, 2 NCBI curation 613312 Feb 16 2016 5167 ENPP1 C4551985 Arterial calcification, generalized, of infancy, 1 NCBI curation 208000 Dec 22 2019 5167 ENPP1 C3809781 Cole disease NCBI curation 615522 Feb 16 2016 5167 ENPP1 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 5167 ENPP1 C0028754 Obesity NCBI curation 601665 Feb 16 2016 953 ENTPD1 C3810289 Spastic paraplegia 64, autosomal recessive NCBI curation 615683 Feb 16 2016 285203 EOGT C3809092 Adams-Oliver syndrome 4 NCBI curation 615297 Feb 16 2016 2033 EP300 C5193035 Menke-Hennekam syndrome 2 NCBI curation 618333 Feb 25 2019 2033 EP300 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 2033 EP300 C3150941 Rubinstein-Taybi syndrome 2 NCBI curation 613684 Feb 16 2016 2033 EP300 C4551859 Rubinstein-Taybi syndrome 1 NCBI curation 180849 Feb 13 2019 2034 EPAS1 C2673187 Erythrocytosis, familial, 4 NCBI curation 611783 Feb 16 2016 2035 EPB41 C2678497 Elliptocytosis 1 NCBI curation 611804 Feb 16 2016 2036 EPB41L1 C3280285 Mental retardation, autosomal dominant 11 NCBI curation 614257 Feb 16 2016 2038 EPB42 C2675192 Spherocytosis type 5 NCBI curation 612690 Feb 16 2016 4072 EPCAM C2750471 Hereditary nonpolyposis colorectal cancer type 8 NCBI curation 613244 Feb 16 2016 4072 EPCAM C2750737 Diarrhea 5, with tufting enteropathy, congenital NCBI curation 613217 Feb 16 2016 57724 EPG5 C1855772 Vici syndrome NCBI curation 242840 Apr 6 2018 1969 EPHA2 C1861825 Cataract 6, multiple types NCBI curation 116600 Aug 24 2016 2048 EPHB2 C1863600 Prostate cancer/brain cancer susceptibility NCBI curation 603688 Feb 16 2016 2048 EPHB2 C5193111 BLEEDING DISORDER, PLATELET-TYPE, 22 OMIM 618462 618462 Jun 13 2019 2050 EPHB4 C4310629 Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to NCBI curation 617300 Jun 20 2017 2050 EPHB4 C4748670 Capillary malformation-arteriovenous malformation 2 NCBI curation 618196 Jan 2 2020 2052 EPHX1 C1843139 Hypercholanemia, familial NCBI curation 607748 Feb 16 2016 2053 EPHX2 C0745103 Familial hypercholesterolemia 1 NCBI curation 143890 Jan 17 2020 7957 EPM2A C0751783 Lafora disease 254780 Feb 16 2016 2056 EPO C2675471 Microvascular complications of diabetes 2 NCBI curation 612623 Feb 16 2016 2056 EPO C4693556 DIAMOND-BLACKFAN ANEMIA-LIKE OMIM 617911 617911 Mar 18 2018 2056 EPO C4693552 ERYTHROCYTOSIS, FAMILIAL, 5 OMIM 617907 617907 Mar 18 2018 2057 EPOR C4551637 Primary familial polycythemia due to EPO receptor mutation MONDO MONDO:0007572 133100 Apr 17 2020 2058 EPRS1 C4693733 LEUKODYSTROPHY, HYPOMYELINATING, 15 OMIM 617951 617951 May 4 2018 2059 EPS8 C3892050 Deafness, autosomal recessive 102 NCBI curation 615974 Feb 16 2016 64787 EPS8L2 C4539954 DEAFNESS, AUTOSOMAL RECESSIVE 106 OMIM 617637 617637 Aug 24 2017 79574 EPS8L3 C2748535 Hypotrichosis 5 NCBI curation 612841 Feb 16 2016 8288 EPX C1850000 Eosinophil peroxidase deficiency NCBI curation 261500 Apr 17 2016 26284 ERAL1 C4479656 Perrault syndrome 6 NCBI curation 617565 Apr 6 2018 2064 ERBB2 C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 2064 ERBB2 C2750850 Glioma susceptibility 1 NCBI curation 137800 Feb 16 2016 2064 ERBB2 CN078025 Trastuzumab response NCBI curation Feb 16 2016 2064 ERBB2 C0038356 Neoplasm of stomach NCBI curation 613659 Feb 16 2016 2064 ERBB2 CN233145 Pertuzumab response NCBI curation Feb 16 2016 2065 ERBB3 C1843478 Lethal congenital contracture syndrome 2 607598 Feb 16 2016 2065 ERBB3 C4746575 Acute myeloid leukemia, M6 type NCBI curation 133180 Feb 16 2016 2066 ERBB4 C3715155 Amyotrophic lateral sclerosis 19 NCBI curation 615515 Feb 16 2016 2067 ERCC1 C1853100 Cerebrooculofacioskeletal syndrome 4 NCBI curation 610758 Feb 16 2016 2067 ERCC1 CN119607 ERCC1-Related Xeroderma Pigmentosum NCBI curation Feb 16 2016 2067 ERCC1 C0043346 Xeroderma pigmentosum NCBI curation Feb 16 2016 2068 ERCC2 C1866504 Trichothiodystrophy 1, photosensitive NCBI curation 601675 Aug 24 2016 2068 ERCC2 C1853102 Cerebrooculofacioskeletal syndrome 2 NCBI curation 610756 Feb 16 2016 2068 ERCC2 C0268138 Xeroderma pigmentosum, group D 278730 Feb 16 2016 2071 ERCC3 C0268136 Xeroderma pigmentosum, complementation group b NCBI curation 610651 Feb 16 2016 2071 ERCC3 C4225344 Trichothiodystrophy 2, photosensitive NCBI curation 616390 Feb 16 2016 2072 ERCC4 C1970416 XFE progeroid syndrome 610965 Feb 16 2016 2072 ERCC4 C3808988 Fanconi anemia, complementation group Q NCBI curation 615272 Feb 16 2016 2072 ERCC4 C0268140 Xeroderma pigmentosum, group F 278760 Feb 16 2016 2073 ERCC5 C1851443 Cerebrooculofacioskeletal syndrome 3 NCBI curation 616570 Sep 14 2017 2073 ERCC5 C0268141 Xeroderma pigmentosum, group G NCBI curation 278780 Feb 16 2016 2074 ERCC6 C4310783 Premature ovarian failure 11 NCBI curation 616946 Apr 23 2018 2074 ERCC6 C0220722 Cerebrooculofacioskeletal syndrome 1 NCBI curation 214150 Dec 5 2019 2074 ERCC6 C3551173 UV-sensitive syndrome 1 NCBI curation 600630 Dec 24 2019 2074 ERCC6 C0265201 DE SANCTIS-CACCHIONE SYNDROME OMIM 278800 278800 May 13 2016 2074 ERCC6 C0751038 Cockayne syndrome B NCBI curation 133540 May 20 2016 2074 ERCC6 C3151063 Age-related macular degeneration 5 NCBI curation 613761 Feb 16 2016 2074 ERCC6 C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 375748 ERCC6L2 C3810350 Bone marrow failure syndrome 2 NCBI curation 615715 Feb 16 2016 1161 ERCC8 C0751039 Cockayne syndrome type A NCBI curation 216400 Feb 16 2016 1161 ERCC8 C3553298 UV-sensitive syndrome 2 NCBI curation 614621 Feb 16 2016 2077 ERF C4310679 Chitayat syndrome NCBI curation 617180 Jun 20 2017 2077 ERF C3806917 Craniosynostosis 4 MONDO MONDO:0010929 600775 Apr 17 2020 57222 ERGIC1 C1859721 Neurogenic arthrogryposis multiplex congenita MONDO MONDO:0008823 208100 Apr 22 2020 10613 ERLIN1 C4284588 Spastic paraplegia 62, autosomal recessive NCBI curation 615681 May 26 2016 11160 ERLIN2 C2749936 Spastic paraplegia 18 611225 Feb 16 2016 114625 ERMAP C1292292 Antigen in Scianna blood group system NCBI curation 111750 Feb 16 2016 114625 ERMAP C1862204 Radin blood group NCBI curation 111620 Feb 16 2016 55780 ERMARD C3809872 Periventricular nodular heterotopia 6 NCBI curation 615544 Feb 16 2016 157570 ESCO2 C0392475 Roberts-SC phocomelia syndrome NCBI curation 268300 Feb 16 2016 157570 ESCO2 C0392475 Roberts-SC phocomelia syndrome NCBI curation 269000 Feb 16 2016 83715 ESPN C1837007 Deafness, autosomal recessive 36, with or without vestibular involvement NCBI curation 609006 Feb 16 2016 83715 ESPN C5231434 USHER SYNDROME, TYPE 1M OMIM 618632 618632 Oct 24 2019 2099 ESR1 C3809250 Estrogen resistance NCBI curation 615363 Feb 16 2016 2099 ESR1 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 2099 ESR1 C3887485 Migraine Human Phenotype Ontology HP:0002076 157300 Feb 16 2016 2099 ESR1 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 2100 ESR2 C4748626 OVARIAN DYSGENESIS 8 OMIM 618187 618187 Nov 18 2018 54845 ESRP1 C4693935 DEAFNESS, AUTOSOMAL RECESSIVE 109 OMIM 618013 618013 Jun 14 2018 2103 ESRRB C1837857 Deafness, autosomal recessive 35 NCBI curation 608565 Feb 16 2016 8220 ESS2 C0220704 Shprintzen syndrome NCBI curation 192430 Feb 16 2016 2108 ETFA C0268596 Multiple acyl-CoA dehydrogenase deficiency MONDO MONDO:0009282 231680 May 9 2020 2109 ETFB C0268596 Multiple acyl-CoA dehydrogenase deficiency MONDO MONDO:0009282 231680 May 9 2020 2110 ETFDH C0268596 Multiple acyl-CoA dehydrogenase deficiency MONDO MONDO:0009282 231680 May 9 2020 23474 ETHE1 C1865349 Ethylmalonic encephalopathy 602473 Feb 16 2016 2120 ETV6 C4015537 Thrombocytopenia 5 NCBI curation 616216 Feb 16 2016 2120 ETV6 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 2120 ETV6 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 2121 EVC C0013903 Ellis-van Creveld syndrome NCBI curation 225500 Jan 26 2020 2121 EVC C0457013 Curry-Hall syndrome 193530 Feb 16 2016 132884 EVC2 C0457013 Curry-Hall syndrome 193530 Feb 16 2016 132884 EVC2 C0013903 Ellis-van Creveld syndrome NCBI curation 225500 Jan 26 2020 2130 EWSR1 C0553580 Ewing's sarcoma Human Phenotype Ontology HP:0012254 612219 Feb 16 2016 23233 EXOC6B C5193073 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 OMIM 618395 618395 Apr 19 2019 23404 EXOSC2 C4540367 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO MONDO:0044634 617763 Apr 17 2020 51010 EXOSC3 C3553449 Pontocerebellar hypoplasia, type 1b NCBI curation 614678 Feb 16 2016 11340 EXOSC8 C4015160 Pontocerebellar hypoplasia, type 1c NCBI curation 616081 Feb 16 2016 5393 EXOSC9 C4748058 PONTOCEREBELLAR HYPOPLASIA, TYPE 1D OMIM 618065 618065 Jul 29 2018 23086 EXPH5 C3554367 Epidermolysis bullosa, nonspecific, autosomal recessive NCBI curation 615028 Feb 16 2016 2131 EXT1 C0008479 Chondrosarcoma Human Phenotype Ontology HP:0006765 215300 Feb 16 2016 2131 EXT1 C0015306 Multiple congenital exostosis 133700 Feb 16 2016 2132 EXT2 C4225248 Seizures, scoliosis, and macrocephaly syndrome NCBI curation 616682 Feb 16 2016 2132 EXT2 C1851413 Multiple exostoses type 2 NCBI curation 133701 Feb 16 2016 2137 EXTL3 C4479452 Immunoskeletal dysplasia with neurodevelopmental abnormalities NCBI curation 617425 Jun 20 2017 2138 EYA1 C3714941 Otofaciocervical syndrome 1 NCBI curation 166780 Oct 9 2017 2138 EYA1 C4551702 Melnick-Fraser syndrome NCBI curation 113650 Feb 16 2016 2138 EYA1 C1865143 Branchiootic syndrome 602588 Feb 16 2016 2070 EYA4 C1854368 Dilated cardiomyopathy 1J NCBI curation C1854368 605362 Feb 16 2016 2070 EYA4 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 2070 EYA4 C1832476 Deafness, autosomal dominant 10 NCBI curation 601316 Feb 16 2016 346007 EYS C1864446 Retinitis pigmentosa 25 NCBI curation 602772 Feb 16 2016 2146 EZH2 C0265210 Weaver syndrome NCBI curation 277590 Feb 16 2016 2159 F10 C0015519 Factor X deficiency 227600 Feb 16 2016 2160 F11 C0015523 Hereditary factor XI deficiency disease 612416 Feb 16 2016 2161 F12 C0015526 Factor XII deficiency disease 234000 Feb 16 2016 2161 F12 C1857728 Hereditary angioedema type 3 MONDO MONDO:0012526 610618 Jun 2 2020 2162 F13A1 C3160733 Venous thrombosis Human Phenotype Ontology HP:0004936 188050 Feb 16 2016 2162 F13A1 C2750514 Factor XIII subunit A deficiency Human Phenotype Ontology HP:0040233 613225 Apr 4 2018 2162 F13A1 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 2165 F13B C2750481 Factor XIII, b subunit, deficiency of MONDO MONDO:0013190 613235 Apr 22 2020 2147 F2 C0948008 Ischemic stroke Human Phenotype Ontology HP:0002140 601367 Feb 16 2016 2147 F2 C3280672 Pregnancy loss, recurrent, susceptibility to, 2 NCBI curation 614390 Feb 16 2016 2147 F2 C0020640 Prothrombin deficiency, congenital NCBI curation 613679 Feb 16 2016 2147 F2 C3160733 Venous thrombosis Human Phenotype Ontology HP:0004936 188050 Feb 16 2016 2153 F5 C1861171 Thrombophilia due to activated protein C resistance NCBI curation 188055 Feb 16 2016 2153 F5 C0015499 Factor V deficiency NCBI curation 227400 Feb 16 2016 2153 F5 C3280670 Recurrent abortion 614389 Feb 16 2016 2153 F5 C0948008 Ischemic stroke Human Phenotype Ontology HP:0002140 601367 Feb 16 2016 2153 F5 C0856761 Budd-Chiari syndrome Human Phenotype Ontology HP:0002639 600880 Feb 16 2016 2155 F7 C0015503 Factor VII deficiency 227500 Feb 16 2016 2155 F7 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 2157 F8 C0019069 Hereditary factor VIII deficiency disease NCBI curation 306700 Feb 16 2016 2158 F9 C0750384 Warfarin response NCBI curation 122700 Feb 16 2016 2158 F9 C0008533 Hereditary factor IX deficiency disease 306900 Feb 16 2016 2158 F9 C2749016 Thrombophilia, X-linked, due to factor IX defect NCBI curation 300807 Feb 16 2016 79152 FA2H C3496228 Spastic paraplegia 35 NCBI curation 612319 Feb 16 2016 2166 FAAH C1847831 Polysubstance abuse, susceptibility to NCBI curation 606581 Feb 16 2016 8772 FADD C3151062 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations NCBI curation 613759 Feb 16 2016 2184 FAH C0268490 Tyrosinemia type I NCBI curation 276700 Feb 16 2016 63901 FAM111A C1865639 Osteocraniostenosis MONDO MONDO:0011215 602361 Apr 17 2020 63901 FAM111A C4316787 Kenny-Caffey syndrome type 2 NCBI curation 127000 Feb 16 2016 374393 FAM111B C3810325 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis NCBI curation 615704 Feb 16 2016 84668 FAM126A C1864663 Hypomyelination and Congenital Cataract GeneReviews NBK2587 610532 Feb 16 2016 317662 FAM149B1 C5231493 JOUBERT SYNDROME 36 OMIM 618763 618763 Feb 6 2020 84140 FAM161A C1419614 Retinitis pigmentosa 28 NCBI curation 606068 Feb 16 2016 54757 FAM20A C2931783 Amelogenesis imperfecta type 1G MONDO MONDO:0008771 204690 Apr 21 2020 56975 FAM20C C1850106 Lethal osteosclerotic bone dysplasia MONDO MONDO:0009821 259775 Apr 17 2020 286077 FAM83H C0399376 Amelogenesis imperfecta, hypocalcification type 130900 Feb 16 2016 22909 FAN1 C3553774 Interstitial nephritis, karyomegalic NCBI curation 614817 Feb 16 2016 2175 FANCA C3469521 Fanconi anemia, complementation group A NCBI curation 227650 Feb 16 2016 2187 FANCB C1845292 Fanconi anemia, complementation group B NCBI curation 300514 Feb 16 2016 2187 FANCB C2931228 VACTERL association with hydrocephaly, X-linked 314390 Feb 16 2016 2176 FANCC C3468041 Fanconi anemia, complementation group C NCBI curation 227645 Feb 16 2016 2177 FANCD2 C3160738 Fanconi anemia, complementation group D2 NCBI curation 227646 Feb 16 2016 2178 FANCE C3160739 Fanconi anemia, complementation group E NCBI curation 600901 Feb 16 2016 2188 FANCF C3469526 Fanconi anemia, complementation group F NCBI curation 603467 Feb 16 2016 2189 FANCG C3469527 Fanconi anemia, complementation group G NCBI curation 614082 Feb 16 2016 55215 FANCI C1836861 Fanconi anemia, complementation group I NCBI curation 609053 Feb 16 2016 55120 FANCL C3469528 Fanconi anemia, complementation group L NCBI curation 614083 Feb 16 2016 57697 FANCM C4748117 SPERMATOGENIC FAILURE 28 OMIM 618086 618086 Aug 15 2018 57697 FANCM C4748170 PREMATURE OVARIAN FAILURE 15 OMIM 618096 618096 Aug 30 2018 84188 FAR1 C4015344 Peroxisomal fatty acyl-coa reductase 1 disorder NCBI curation 616154 Feb 16 2016 10667 FARS2 C4310750 Spastic paraplegia 77, autosomal recessive NCBI curation 617046 Aug 24 2016 10667 FARS2 C3554168 Combined oxidative phosphorylation deficiency 14 NCBI curation 614946 Feb 16 2016 10056 FARSB C3150910 Rajab interstitial lung disease with brain calcifications NCBI curation 613658 Jan 6 2020 355 FAS C1328840 Autoimmune lymphoproliferative syndrome 601859 Feb 16 2016 356 FASLG C1328840 Autoimmune lymphoproliferative syndrome 601859 Feb 16 2016 356 FASLG C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 356 FASLG C1866120 Autoimmune lymphoproliferative syndrome, type 1b NCBI curation Feb 16 2016 22868 FASTKD2 CN280867 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 OMIM 618855 618855 May 2 2020 2196 FAT2 C4540400 SPINOCEREBELLAR ATAXIA 45 OMIM 617769 617769 Nov 18 2017 79633 FAT4 C4014939 Hennekam lymphangiectasia-lymphedema syndrome 2 NCBI curation 616006 Feb 16 2016 79633 FAT4 C3809875 Van Maldergem syndrome 2 NCBI curation 615546 Feb 16 2016 2192 FBLN1 C1842422 Synpolydactyly 2 NCBI curation 608180 Feb 16 2016 10516 FBLN5 C4225406 Age-related macular degeneration 3 NCBI curation 608895 Feb 16 2016 10516 FBLN5 C0268351 Autosomal recessive cutis laxa type IA NCBI curation 219100 Feb 16 2016 10516 FBLN5 C3280794 Cutis laxa, autosomal dominant 2 NCBI curation 614434 Feb 16 2016 2200 FBN1 C3280054 Geleophysic dysplasia 2 NCBI curation 614185 Feb 16 2016 2200 FBN1 C0265287 Acromicric dysplasia NCBI curation 102370 Feb 16 2016 2200 FBN1 C3541518 Ectopia lentis, isolated, autosomal dominant NCBI curation 129600 Feb 16 2016 2200 FBN1 C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 Apr 27 2020 2200 FBN1 C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 Apr 27 2020 2200 FBN1 C1861456 Stiff skin syndrome 184900 Feb 16 2016 2200 FBN1 C4310796 Marfan lipodystrophy syndrome NCBI curation 616914 Jan 7 2018 2200 FBN1 C0024796 Marfan syndrome NCBI curation 154700 Feb 16 2016 2200 FBN1 C1869115 Weill-Marchesani syndrome 2 NCBI curation 608328 Feb 16 2016 2200 FBN1 C1858556 MASS syndrome 604308 Feb 16 2016 2201 FBN2 C0220668 Congenital contractural arachnodactyly NCBI curation 121050 Feb 16 2016 2201 FBN2 C4015286 Macular degeneration, early-onset NCBI curation 616118 Feb 16 2016 2203 FBP1 C0016756 Fructose-biphosphatase deficiency 229700 Feb 16 2016 26224 FBXL3 C1853507 Mental retardation, short stature, facial anomalies, and joint dislocations NCBI curation 606220 Feb 16 2016 26235 FBXL4 C3809592 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) NCBI curation 615471 Feb 16 2016 80204 FBXO11 C4748135 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES OMIM 618089 618089 Aug 19 2018 79791 FBXO31 C4014864 Mental retardation, autosomal recessive 45 NCBI curation 615979 Feb 16 2016 81545 FBXO38 C3888271 Distal hereditary motor neuronopathy 2D NCBI curation 615575 Feb 16 2016 25793 FBXO7 C1850100 Parkinson disease 15 NCBI curation 260300 Feb 16 2016 23291 FBXW11 CN282599 Neurodevelopmental, jaw, eye, and digital syndrome NCBI curation 618914 Jun 21 2020 2212 FCGR2A C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 Feb 16 2016 2212 FCGR2A C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 2212 FCGR2A C0010674 Cystic fibrosis NCBI curation 219700 Jul 6 2018 2213 FCGR2B C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 2213 FCGR2B C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 Feb 16 2016 2214 FCGR3A C3810342 Immunodeficiency 20 NCBI curation 615707 Feb 16 2016 8547 FCN3 C3151226 Immunodeficiency due to ficolin 3 deficiency NCBI curation 613860 Feb 16 2016 197258 FCSK C5193028 Congenital disorder of glycosylation with defective fucosylation 2 NCBI curation 618324 Feb 24 2019 2222 FDFT1 C4748427 SQUALENE SYNTHASE DEFICIENCY OMIM 618156 618156 Oct 27 2018 2224 FDPS C4225262 Porokeratosis 9, multiple types NCBI curation 616631 Feb 16 2016 112812 FDX2 C0162670 Mitochondrial myopathy Human Phenotype Ontology HP:0003737 251900 Feb 16 2016 2232 FDXR C4521678 Auditory neuropathy-optic atrophy syndrome MONDO MONDO:0060582 617717 Apr 17 2020 2235 FECH C4692546 Protoporphyria, erythropoietic, 1 NCBI curation 177000 Jan 19 2020 55612 FERMT1 C0406557 Kindler's syndrome NCBI curation 173650 Feb 16 2016 83706 FERMT3 C2748536 Leukocyte adhesion deficiency, type III NCBI curation 612840 Nov 15 2018 389549 FEZF1 C4014988 Hypogonadotropic hypogonadism 22 with or without anosmia NCBI curation 616030 Feb 16 2016 389549 FEZF1 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 338557 FFAR4 C2675659 Body mass index quantitative trait locus 10 NCBI curation 607514 Feb 16 2016 2243 FGA C0268389 Familial visceral amyloidosis, Ostertag type NCBI curation 105200 Feb 16 2016 2243 FGA C0272350 Dysfibrinogenemia, congenital NCBI curation 616004 Feb 16 2016 2243 FGA C2584774 Afibrinogenemia, congenital NCBI curation 202400 Feb 16 2016 2244 FGB C2584774 Afibrinogenemia, congenital NCBI curation 202400 Feb 16 2016 2244 FGB C0272350 Dysfibrinogenemia, congenital NCBI curation 616004 Feb 16 2016 2245 FGD1 C0175701 Aarskog syndrome NCBI curation 305400 Feb 16 2016 121512 FGD4 C1836336 Charcot-Marie-Tooth disease, type 4H NCBI curation 609311 Feb 16 2016 2255 FGF10 C0158667 Congenital absence of salivary gland NCBI curation 180920 Feb 16 2016 2255 FGF10 C0265269 Levy-Hollister syndrome NCBI curation 149730 Apr 8 2016 2257 FGF12 C4310685 Epileptic encephalopathy, early infantile, 47 NCBI curation 617166 Jun 20 2017 2259 FGF14 C1836383 Spinocerebellar ataxia type 27 MONDO MONDO:0012247 609307 Apr 22 2020 8823 FGF16 C1839728 Metacarpal 4-5 fusion NCBI curation 309630 Feb 16 2016 8822 FGF17 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 8822 FGF17 C3808983 Hypogonadotropic hypogonadism 20 with or without anosmia NCBI curation 615270 Feb 16 2016 26281 FGF20 C3810359 Renal hypodysplasia/aplasia 2 NCBI curation 615721 Feb 16 2016 8074 FGF23 C0342642 Autosomal dominant hypophosphatemic rickets NCBI curation 193100 Feb 16 2016 8074 FGF23 C4693863 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 OMIM 617993 617993 May 25 2018 2248 FGF3 C1853144 Deafness with labyrinthine aplasia microtia and microdontia (LAMM) NCBI curation 610706 Feb 16 2016 2250 FGF5 C0854699 Trichomegaly NCBI curation 190330 Feb 16 2016 2253 FGF8 C3552574 Hypogonadotropic hypogonadism 6 with or without anosmia MONDO MONDO:0012988 612702 Apr 22 2020 2254 FGF9 C2751826 Multiple synostoses syndrome 3 NCBI curation 612961 Feb 16 2016 2260 FGFR1 C0406612 Encephalocraniocutaneous lipomatosis NCBI curation 613001 Feb 16 2016 2260 FGFR1 C1563720 Hypogonadotropic hypogonadism 2 with or without anosmia MONDO MONDO:0007844 147950 Apr 22 2020 2260 FGFR1 C1845146 Hartsfield syndrome NCBI curation 615465 Feb 16 2016 2260 FGFR1 C0432122 Trigonocephaly 1 NCBI curation 190440 May 4 2016 2260 FGFR1 C0795998 Jackson-Weiss syndrome 123150 Feb 16 2016 2260 FGFR1 C0220658 Pfeiffer syndrome 101600 Feb 16 2016 2260 FGFR1 C0432283 Osteoglophonic dysplasia 166250 Feb 16 2016 2263 FGFR2 CN043619 Isolated coronal synostosis NCBI curation Feb 16 2016 2263 FGFR2 C2931196 Crouzon syndrome Human Phenotype Ontology HP:0004439 123500 Apr 10 2018 2263 FGFR2 C0220658 Pfeiffer syndrome 101600 Feb 16 2016 2263 FGFR2 C0795998 Jackson-Weiss syndrome 123150 Feb 16 2016 2263 FGFR2 C1852406 Beare-Stevenson cutis gyrata syndrome MONDO MONDO:0007412 123790 Apr 22 2020 2263 FGFR2 C1865070 Scaphocephaly, maxillary retrusion, and mental retardation NCBI curation 609579 Feb 16 2016 2263 FGFR2 C3281247 Bent bone dysplasia syndrome NCBI curation 614592 Feb 16 2016 2263 FGFR2 C0175699 Saethre-Chotzen syndrome NCBI curation 101400 Feb 16 2016 2263 FGFR2 C0001193 Acrocephalosyndactyly type I NCBI curation 101200 Feb 16 2016 2263 FGFR2 C2936791 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis NCBI curation 207410 Feb 16 2016 2263 FGFR2 C0265269 Levy-Hollister syndrome NCBI curation 149730 Apr 8 2016 2263 FGFR2 C0038356 Neoplasm of stomach NCBI curation 613659 Feb 16 2016 2261 FGFR3 C1300257 Thanatophoric dysplasia, type 2 187601 Feb 16 2016 2261 FGFR3 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 2261 FGFR3 C0334082 Epidermal nevus Human Phenotype Ontology HP:0010816 162900 Feb 16 2016 2261 FGFR3 C0265269 Levy-Hollister syndrome NCBI curation 149730 Apr 8 2016 2261 FGFR3 C0153594 Malignant tumor of testis NCBI curation 273300 Feb 16 2016 2261 FGFR3 C0005684 Urinary bladder cancer MONDO MONDO:0001187 109800 May 6 2020 2261 FGFR3 C1864436 Muenke syndrome 602849 Feb 16 2016 2261 FGFR3 C0302592 Carcinoma of cervix NCBI curation 603956 Feb 16 2016 2261 FGFR3 C2677099 Crouzon syndrome with acanthosis nigricans NCBI curation 612247 Feb 16 2016 2261 FGFR3 C1868678 Thanatophoric dysplasia type 1 187600 Feb 16 2016 2261 FGFR3 C0001080 Achondroplasia 100800 Feb 16 2016 2261 FGFR3 C0410529 Hypochondroplasia GeneReviews NBK1477 146000 Feb 16 2016 2261 FGFR3 CN043619 Isolated coronal synostosis NCBI curation Feb 16 2016 2261 FGFR3 C2674173 Severe achondroplasia with developmental delay and acanthosis nigricans NCBI curation 616482 Feb 16 2016 2261 FGFR3 C1864852 Camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO MONDO:0012504 610474 Apr 17 2020 53834 FGFRL1 C1956097 4p partial monosomy syndrome 194190 Feb 16 2016 2266 FGG C0272350 Dysfibrinogenemia, congenital NCBI curation 616004 Feb 16 2016 2266 FGG C2584774 Afibrinogenemia, congenital NCBI curation 202400 Feb 16 2016 2271 FH C1708350 Hereditary leiomyomatosis and renal cell cancer MONDO MONDO:0007888 150800 Apr 17 2020 2271 FH C0342770 Fumarase deficiency NCBI curation 606812 Feb 16 2016 2273 FHL1 C1846010 Uruguay faciocardiomusculoskeletal syndrome NCBI curation 300280 Feb 16 2016 2273 FHL1 C2678061 Scapuloperoneal myopathy, X-linked dominant NCBI curation 300695 Feb 16 2016 2273 FHL1 C2678055 Myopathy with postural muscle atrophy, X-linked NCBI curation 300696 Feb 16 2016 2273 FHL1 C4225159 Myopathy, reducing body, X-linked, childhood-onset NCBI curation 300718 Feb 16 2016 2273 FHL1 C4225423 Myopathy, reducing body, X-linked, early-onset, severe NCBI curation 300717 Feb 16 2016 9158 FIBP C4310715 Thauvin-Robinet-Faivre syndrome NCBI curation 617107 Nov 5 2017 9896 FIG4 C1970011 Charcot-Marie-Tooth disease, type 4J NCBI curation 611228 Feb 16 2016 9896 FIG4 C2675491 Amyotrophic lateral sclerosis type 11 612577 Feb 16 2016 9896 FIG4 C4013648 Polymicrogyria, bilateral temporooccipital NCBI curation 612691 Aug 24 2016 9896 FIG4 C1857663 Yunis-Varon syndrome MONDO MONDO:0008995 216340 Apr 22 2020 344018 FIGLA C2676742 Premature ovarian failure 6 NCBI curation 612310 Feb 16 2016 128486 FITM2 C5231435 SIDDIQI SYNDROME OMIM 618635 618635 Oct 26 2019 60681 FKBP10 C3151218 Osteogenesis imperfecta, type XI NCBI curation 610968 Sep 28 2016 60681 FKBP10 C1850168 Bruck syndrome 1 259450 Feb 16 2016 55033 FKBP14 C3281160 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NCBI curation 614557 Oct 23 2016 2289 FKBP5 C1269683 Major depressive disorder NCBI curation 608516 Jul 6 2018 79147 FKRP C1846672 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 NCBI curation 607155 Feb 16 2016 79147 FKRP C3150413 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 NCBI curation 613153 Feb 16 2016 79147 FKRP C4284790 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 NCBI curation 236670 Jan 3 2019 79147 FKRP C1847759 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 NCBI curation 606612 Feb 16 2016 2218 FKTN C0410174 Fukuyama congenital muscular dystrophy 253800 Feb 16 2016 2218 FKTN C4284790 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 NCBI curation 236670 Jan 3 2019 2218 FKTN C1969024 Dilated cardiomyopathy 1X NCBI curation C1969024 611615 Feb 16 2016 2218 FKTN C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 2218 FKTN C1969040 Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 NCBI curation 611588 Feb 16 2016 2218 FKTN C2751052 Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 NCBI curation 613152 Feb 16 2016 80308 FLAD1 C4310822 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency NCBI curation 255100 Jul 3 2016 201163 FLCN C2931246 Potocki-Lupski syndrome MONDO MONDO:0012574 610883 Apr 17 2020 201163 FLCN C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 201163 FLCN C1868193 Pneumothorax, primary spontaneous NCBI curation 173600 Feb 16 2016 201163 FLCN C3160732 Renal cell carcinoma, nonpapillary NCBI curation 144700 Feb 16 2016 201163 FLCN C0346010 Multiple fibrofolliculomas 135150 Feb 16 2016 2312 FLG C1853965 Dermatitis, atopic, 2 NCBI curation 605803 Feb 16 2016 2312 FLG C0079584 Ichthyosis vulgaris 146700 Feb 16 2016 388698 FLG2 C4748093 Peeling skin syndrome 6 NCBI curation 618084 Jan 10 2020 2313 FLI1 C4479515 Bleeding disorder, platelet-type, 21 NCBI curation 617443 Jun 20 2017 2316 FLNA C4281559 Frontometaphyseal dysplasia 1 NCBI curation 305620 Feb 8 2020 2316 FLNA C1848213 Periventricular nodular heterotopia 1 NCBI curation 300049 Feb 27 2017 2316 FLNA C1846129 Terminal osseous dysplasia NCBI curation 300244 Feb 16 2016 2316 FLNA C1844696 Oto-palato-digital syndrome, type II 304120 Feb 16 2016 2316 FLNA C2746068 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked MONDO MONDO:0010232 300048 Apr 22 2020 2316 FLNA C0262436 Cardiac valvular dysplasia, X-linked NCBI curation 314400 Feb 17 2020 2316 FLNA C0025237 Melnick-Needles syndrome 309350 Feb 16 2016 2316 FLNA C1845902 FG syndrome 2 300321 Feb 16 2016 2316 FLNA C0265251 Oto-palato-digital syndrome, type I 311300 Feb 16 2016 2317 FLNB C0432201 Boomerang dysplasia 112310 Feb 16 2016 2317 FLNB C1835564 Larsen syndrome, dominant type 150250 Feb 16 2016 2317 FLNB C1848934 Spondylocarpotarsal synostosis syndrome 272460 Feb 16 2016 2317 FLNB C0265283 Atelosteogenesis type 1 NCBI curation 108720 Feb 16 2016 2317 FLNB C3668942 Atelosteogenesis type III MONDO MONDO:0007168 108721 Apr 22 2020 2318 FLNC C3279722 Myopathy, distal, 4 NCBI curation 614065 Feb 16 2016 2318 FLNC C1836050 Myofibrillar myopathy, filamin C-related NCBI curation 609524 Feb 16 2016 2318 FLNC C4310749 Cardiomyopathy, familial hypertrophic, 26 NCBI curation 617047 Aug 24 2016 23767 FLRT3 C3808986 Hypogonadotropic hypogonadism 21 with or without anosmia NCBI curation 615271 Feb 16 2016 23767 FLRT3 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 2322 FLT3 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 2322 FLT3 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 2322 FLT3 C0023449 Acute lymphoid leukemia NCBI curation 613065 Sep 22 2016 2324 FLT4 C1865871 Hemangioma, capillary infantile NCBI curation 602089 Feb 16 2016 2324 FLT4 CN263280 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 OMIM 618780 618780 Feb 19 2020 2324 FLT4 C1704423 Hereditary lymphedema type I NCBI curation 153100 Mar 10 2016 28982 FLVCR1 C1836916 Posterior column ataxia-retinitis pigmentosa syndrome MONDO MONDO:0012177 609033 Apr 17 2020 55640 FLVCR2 C1856972 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome NCBI curation 225790 Feb 16 2016 56776 FMN2 C4015444 Mental retardation, autosomal recessive 47 NCBI curation 616193 Feb 16 2016 2328 FMO3 C0342739 Trimethylaminuria GeneReviews NBK1103 602079 Feb 16 2016 2328 FMO3 C0342739 Trimethylaminuria Human Phenotype Ontology HP:0003614 602079 Feb 16 2016 2332 FMR1 C0016667 Fragile X syndrome 300624 Feb 16 2016 2332 FMR1 C4552079 Premature ovarian failure 1 NCBI curation 311360 Feb 16 2016 2332 FMR1 C1839780 Fragile X tremor/ataxia syndrome NCBI curation 300623 Feb 16 2016 2335 FN1 C0432221 Spondylometaphyseal dysplasia - Sutcliffe type 184255 Feb 16 2016 2335 FN1 C1866075 Glomerulopathy with fibronectin deposits 2 601894 Feb 16 2016 2348 FOLR1 C2751584 Cerebral folate deficiency 613068 Feb 16 2016 2296 FOXC1 C2678503 Axenfeld-Rieger syndrome type 3 602482 Feb 16 2016 2296 FOXC1 C1866560 Anterior segment dysgenesis 3 NCBI curation 601631 Jan 23 2018 2303 FOXC2 C0265345 Distichiasis-lymphedema syndrome 153400 Feb 16 2016 27022 FOXD3 C1842979 Autoimmune disease 1 NCBI curation 607836 Feb 16 2016 2304 FOXE1 C1855794 Bamforth-Lazarus syndrome MONDO MONDO:0009437 241850 Apr 17 2020 2304 FOXE1 C4225293 Thyroid cancer, nonmedullary, 4 NCBI curation 616534 Feb 16 2016 2301 FOXE3 C1853230 Congenital primary aphakia Human Phenotype Ontology HP:0007707 610256 Apr 4 2018 2301 FOXE3 C4479235 Aortic aneurysm, familial thoracic 11, susceptibility to NCBI curation 617349 Jun 20 2017 2301 FOXE3 C2751822 Cataract 34, multiple types NCBI curation 612968 Aug 24 2016 2294 FOXF1 C0031190 Persistent fetal circulation syndrome MONDO MONDO:0022430 265380 Apr 22 2020 2290 FOXG1 C3150705 Rett syndrome, congenital variant NCBI curation 613454 Feb 16 2016 8928 FOXH1 C0079541 Holoprosencephaly sequence NCBI curation Feb 16 2016 2299 FOXI1 C0271829 Pendred syndrome NCBI curation 274600 Oct 15 2018 2299 FOXI1 C3538946 Enlarged vestibular aqueduct Human Phenotype Ontology HP:0011387 600791 Mar 19 2018 2302 FOXJ1 C5231466 CILIARY DYSKINESIA, PRIMARY, 43 OMIM 618699 618699 Dec 15 2019 668 FOXL2 C1837008 Premature ovarian failure 3 NCBI curation 608996 Feb 16 2016 668 FOXL2 C0220663 Blepharophimosis, ptosis, and epicanthus inversus NCBI curation 110100 Feb 16 2016 8456 FOXN1 CN263366 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT OMIM 618806 618806 Mar 15 2020 8456 FOXN1 C1866426 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO MONDO:0011132 601705 Apr 22 2020 2308 FOXO1 C0206655 Alveolar rhabdomyosarcoma (disease) MONDO MONDO:0009994 268220 Apr 17 2020 27086 FOXP1 C4013764 Mental retardation with language impairment and with or without autistic features NCBI curation 613670 Feb 16 2016 93986 FOXP2 C0750927 Speech-language disorder 1 NCBI curation 602081 Feb 16 2016 50943 FOXP3 C0342288 Insulin-dependent diabetes mellitus secretory diarrhea syndrome 304790 Feb 16 2016 55572 FOXRED1 C4748791 Mitochondrial complex 1 deficiency, nuclear type 19 MONDO MONDO:0032624 618241 May 27 2020 2464 FRA16E C3149276 Chromosome 16p12.1 deletion syndrome, 520kb MONDO MONDO:0007631 136570 Jun 4 2020 80144 FRAS1 C4551480 Fraser syndrome 1 NCBI curation 219000 Jan 25 2020 158326 FREM1 C1855425 Oculotrichoanal syndrome MONDO MONDO:0009560 248450 Apr 17 2020 158326 FREM1 C2750433 BNAR syndrome MONDO MONDO:0012165 608980 Apr 17 2020 158326 FREM1 C3280974 Trigonocephaly 2 NCBI curation 614485 Feb 16 2016 341640 FREM2 C4540036 FRASER SYNDROME 2 OMIM 617666 617666 Sep 15 2017 341640 FREM2 C1852453 Cryptophthalmos, unilateral or bilateral, isolated NCBI curation 123570 Feb 16 2016 2483 FRG1 C1834673 Facioscapulohumeral muscular dystrophy 1a NCBI curation 158900 Nov 5 2019 55691 FRMD4A C4225193 Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia NCBI curation 616819 May 26 2016 90167 FRMD7 C1839580 Infantile nystagmus, X-linked NCBI curation 310700 Feb 16 2016 9758 FRMPD4 C4310817 Mental retardation, X-linked 104 NCBI curation 300983 Jun 20 2017 23732 FRRS1L C4310770 Epileptic encephalopathy, early infantile, 37 NCBI curation 616981 Sep 4 2016 2487 FRZB C3887876 Osteoarthritis Human Phenotype Ontology HP:0002758 165720 Apr 4 2018 25794 FSCN2 C1842816 Retinitis pigmentosa 30 NCBI curation 607921 Feb 16 2016 2488 FSHB C1856716 Hypogonadotropic hypogonadism 24 without anosmia MONDO MONDO:0009239 229070 May 9 2020 2492 FSHR C0949595 Ovarian dysgenesis 1 NCBI curation 233300 Feb 16 2016 2492 FSHR C0220761 Dizygotic twins NCBI curation 276400 Feb 16 2016 2492 FSHR C0085083 Ovarian hyperstimulation syndrome NCBI curation 608115 Feb 16 2016 401024 FSIP2 C4748403 SPERMATOGENIC FAILURE 34 OMIM 618153 618153 Oct 24 2018 10841 FTCD C0268609 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY OMIM 229100 229100 May 18 2016 2495 FTH1 CN181217 Hemochromatosis type 5 NCBI curation 615517 Feb 16 2016 2512 FTL C3810090 L-ferritin deficiency NCBI curation 615604 Feb 16 2016 2512 FTL C1853578 Neuroferritinopathy 606159 Feb 16 2016 2512 FTL C1833213 Hereditary hyperferritinemia with congenital cataracts MONDO MONDO:0010952 600886 Apr 22 2020 79068 FTO C2752001 Growth retardation, developmental delay, coarse facies, and early death NCBI curation 612938 Feb 16 2016 79068 FTO C2675914 Body mass index quantitative trait locus 14 NCBI curation 612460 Feb 16 2016 24140 FTSJ1 C0796215 Mental retardation 9, X-linked NCBI curation 309549 Feb 16 2016 2517 FUCA1 C0016788 Fucosidosis 230000 Feb 16 2016 2521 FUS C3539195 Tremor, hereditary essential, 4 NCBI curation 614782 Feb 16 2016 2521 FUS C1842675 Amyotrophic lateral sclerosis type 6 608030 Feb 16 2016 2523 FUT1 C1859408 Bombay phenotype NCBI curation 616754 Feb 16 2016 2524 FUT2 C1859408 Bombay phenotype NCBI curation 616754 Feb 16 2016 2524 FUT2 C2674252 Vitamin b12 plasma level quantitative trait locus 1 NCBI curation 612542 Feb 16 2016 2528 FUT6 C3151219 Fucosyltransferase 6 deficiency NCBI curation 613852 Feb 16 2016 2530 FUT8 CN258220 Congenital disorder of glycosylation with defective fucosylation 1 NCBI curation 618005 Feb 24 2019 80199 FUZ C3891448 Neural tube defect Human Phenotype Ontology HP:0045005 182940 Feb 16 2016 2395 FXN C1856689 Friedreich ataxia 1 NCBI curation 229300 Feb 16 2016 8087 FXR1 CN263394 MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS OMIM 618823 618823 Mar 27 2020 8087 FXR1 CN263393 MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES OMIM 618822 618822 Mar 27 2020 486 FXYD2 C1835171 Renal hypomagnesemia 2 MONDO MONDO:0007937 154020 Apr 22 2020 2533 FYB1 C2678311 Thrombocytopenia 3 NCBI curation 273900 Feb 16 2016 79443 FYCO1 C1864908 Cataract 18 MONDO MONDO:0012395 610019 Apr 22 2020 2535 FZD2 C2750355 Autosomal dominant omodysplasia MONDO MONDO:0008123 164745 Apr 22 2020 8322 FZD4 C1851402 Exudative vitreoretinopathy 1 NCBI curation 133780 Feb 16 2016 8323 FZD6 C0406443 Nail disorder, nonsyndromic congenital, 1 NCBI curation 161050 Apr 17 2020 2538 G6PC C2919796 Glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO MONDO:0009287 232200 Apr 17 2020 92579 G6PC3 C2675526 Severe congenital neutropenia 4, autosomal recessive NCBI curation 612541 Feb 16 2016 2539 G6PD C2720289 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NCBI curation 300908 Feb 16 2016 2539 G6PD CN262925 Tafenoquine response NCBI curation Nov 29 2019 2539 G6PD CN078005 Rasburicase response Feb 16 2016 2539 G6PD CN437678 Glimepiride response NCBI curation Sep 5 2017 2539 G6PD CN575653 Pegloticase response NCBI curation Oct 31 2017 2539 G6PD C1832730 Glipizide response NCBI curation Sep 5 2017 2539 G6PD CN437679 Glyburide response NCBI curation Sep 5 2017 2539 G6PD C4016718 Tolbutamide response NCBI curation Mar 6 2016 2539 G6PD CN427423 Chlorpropamide response NCBI curation Sep 1 2017 2539 G6PD C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 2548 GAA C0017921 Glycogen storage disease, type II NCBI curation 232300 Feb 16 2016 2549 GAB1 C1854275 Deafness, autosomal recessive 26 NCBI curation 605428 Feb 16 2016 9568 GABBR2 C4693546 NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS OMIM 617903 617903 Mar 17 2018 9568 GABBR2 C4693550 Early infantile epileptic encephalopathy 59 NCBI curation 617904 Apr 23 2018 9568 GABBR2 C1861063 Tobacco addiction, susceptibility to NCBI curation 188890 Feb 16 2016 2554 GABRA1 C4013473 Epilepsy, juvenile myoclonic 5 NCBI curation 611136 Feb 16 2016 2554 GABRA1 C3810400 Epileptic encephalopathy, early infantile, 19 NCBI curation 615744 Feb 16 2016 2555 GABRA2 C0001973 Alcohol dependence NCBI curation 103780 Jul 6 2018 2555 GABRA2 C5231409 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 OMIM 618557 618557 Sep 6 2019 2558 GABRA5 C5231410 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 OMIM 618559 618559 Sep 6 2019 2560 GABRB1 C4310691 Epileptic encephalopathy, early infantile, 45 NCBI curation 617153 Jun 20 2017 2561 GABRB2 C4693362 Epileptic encephalopathy, infantile or early childhood 2 NCBI curation 617829 Dec 29 2019 2562 GABRB3 C4310712 Epileptic encephalopathy, early infantile, 43 NCBI curation 617113 Jun 20 2017 2562 GABRB3 C2677087 Epilepsy, childhood absence 5 NCBI curation 612269 Feb 16 2016 2563 GABRD C2751603 Epilepsy, idiopathic generalized 10 NCBI curation 613060 Feb 16 2016 2566 GABRG2 C1843244 Epilepsy, childhood absence 2 NCBI curation 607681 Feb 16 2016 2566 GABRG2 C5193074 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 OMIM 618396 618396 Apr 20 2019 2571 GAD1 C2751938 Cerebral palsy, spastic quadriplegic, 1 NCBI curation 603513 Feb 16 2016 51083 GAL C4225318 Epilepsy, familial temporal lobe, 8 NCBI curation 616461 Feb 16 2016 2581 GALC C0023521 Galactosylceramide beta-galactosidase deficiency 245200 Feb 16 2016 2582 GALE C0751161 UDPglucose-4-epimerase deficiency NCBI curation 230350 Feb 16 2016 2584 GALK1 C0268155 Deficiency of galactokinase NCBI curation 230200 Feb 16 2016 130589 GALM CN280928 GALACTOSEMIA IV OMIM 618881 618881 May 16 2020 2588 GALNS C0086651 Mucopolysaccharidosis, MPS-IV-A NCBI curation 253000 Feb 16 2016 79695 GALNT12 C1837315 Colorectal cancer 1 NCBI curation 608812 Feb 16 2016 2590 GALNT2 CN280941 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt OMIM 618885 618885 May 22 2020 2591 GALNT3 C4692564 Hyperphosphatemic familial tumoral calcinosis 1 NCBI curation 211900 Dec 27 2019 2592 GALT C0268151 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase NCBI curation 230400 Feb 16 2016 2593 GAMT C0574080 Deficiency of guanidinoacetate methyltransferase 612736 Feb 16 2016 8139 GAN C1850386 Giant axonal neuropathy 1 NCBI curation 256850 Feb 6 2020 23193 GANAB C3887964 Polycystic kidney disease 3 NCBI curation 600666 Aug 24 2016 2617 GARS1 C1833308 Distal hereditary motor neuronopathy type 5 NCBI curation 600794 Feb 16 2016 2617 GARS1 C1832274 Charcot-Marie-Tooth disease type 2D 601472 Feb 16 2016 246176 GAS2L2 C5193103 CILIARY DYSKINESIA, PRIMARY, 41 OMIM 618449 618449 May 30 2019 2622 GAS8 C4225230 Ciliary dyskinesia, primary, 33 NCBI curation 616726 Feb 16 2016 2623 GATA1 C3550856 Anemia without thromobocytopenia, X-linked NCBI curation 300835 Feb 16 2016 2623 GATA1 C0013080 Complete trisomy 21 syndrome NCBI curation 190685 Feb 16 2016 2623 GATA1 C3550789 GATA-1-related thrombocytopenia with dyserythropoiesis NCBI curation 300367 Feb 16 2016 2623 GATA1 C1839161 Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis NCBI curation 314050 Feb 16 2016 2624 GATA2 C3463824 Myelodysplastic syndrome NCBI curation 614286 Feb 16 2016 2624 GATA2 C3279664 Lymphedema, primary, with myelodysplasia NCBI curation 614038 Feb 16 2016 2624 GATA2 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 2624 GATA2 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 2624 GATA2 C3280030 Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency NCBI curation 614172 Feb 16 2016 2625 GATA3 C1840333 Hypoparathyroidism-deafness-renal disease syndrome MONDO MONDO:0007797 146255 Apr 17 2020 2626 GATA4 C3280781 Atrioventricular septal defect 4 NCBI curation 614430 Feb 16 2016 2626 GATA4 C3809858 Testicular anomalies with or without congenital heart disease NCBI curation 615542 Feb 16 2016 2626 GATA4 C3280777 Ventricular septal defect 1 NCBI curation 614429 Feb 16 2016 2626 GATA4 C1842778 Atrial septal defect 2 NCBI curation 607941 Feb 16 2016 2626 GATA4 C0039685 Tetralogy of Fallot Human Phenotype Ontology HP:0001636 187500 Feb 16 2016 140628 GATA5 C4693563 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 OMIM 617912 617912 Mar 18 2018 2627 GATA6 C1857586 Conotruncal heart malformations 217095 Feb 16 2016 2627 GATA6 C0039685 Tetralogy of Fallot Human Phenotype Ontology HP:0001636 187500 Feb 16 2016 2627 GATA6 C4012454 Pancreatic agenesis and congenital heart disease NCBI curation 600001 Feb 16 2016 2627 GATA6 C3280939 Atrioventricular septal defect 5 NCBI curation 614474 Feb 16 2016 2627 GATA6 C3280943 Atrial septal defect 9 NCBI curation 614475 Feb 16 2016 57798 GATAD1 C3553409 Cardiomyopathy, dilated, 2b NCBI curation 614672 Feb 16 2016 57459 GATAD2B C3554448 Mental retardation, autosomal dominant 18 NCBI curation 615074 Feb 16 2016 5188 GATB CN272921 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 OMIM 618838 618838 Apr 12 2020 283459 GATC CN272922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 OMIM 618839 618839 Apr 12 2020 8209 GATD3A CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 2628 GATM C4551503 Fanconi renotubular syndrome 1 NCBI curation 134600 Feb 16 2016 2628 GATM C2675179 Arginine:glycine amidinotransferase deficiency NCBI curation 612718 Feb 16 2016 2629 GBA C1856476 Gaucher disease type 3C NCBI curation 231005 Feb 16 2016 2629 GBA C0752347 Lewy body dementia NCBI curation 127750 Jun 26 2020 2629 GBA C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 2629 GBA C1961835 Gaucher's disease, type 1 NCBI curation 230800 Feb 16 2016 2629 GBA C0268251 Subacute neuronopathic Gaucher's disease 231000 Feb 16 2016 2629 GBA C0268250 Acute neuronopathic Gaucher's disease NCBI curation 230900 Feb 16 2016 2629 GBA C1842704 Gaucher disease, perinatal lethal NCBI curation 608013 Feb 16 2016 57704 GBA2 C2828721 Spastic paraplegia 46, autosomal recessive NCBI curation 614409 Feb 16 2016 2632 GBE1 C1849722 Polyglucosan body disease, adult 263570 Feb 16 2016 2632 GBE1 C0017923 Glycogen storage disease, type IV NCBI curation 232500 Feb 16 2016 2639 GCDH C0268595 Glutaric aciduria, type 1 NCBI curation 231670 Feb 16 2016 2643 GCH1 C1851920 Dystonia 5 MONDO MONDO:0007495 128230 Apr 17 2020 2643 GCH1 C0268467 GTP cyclohydrolase I deficiency 233910 Feb 16 2016 2645 GCK C1841962 Maturity-onset diabetes of the young, type 2 NCBI curation 125851 Dec 31 2019 2645 GCK C1865290 Hyperinsulinism due to glucokinase deficiency MONDO MONDO:0011236 602485 Apr 17 2020 2645 GCK C1833104 Permanent neonatal diabetes mellitus MONDO MONDO:0011643 606176 May 27 2020 2645 GCK C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 2646 GCKR C3150714 Fasting plasma glucose level quantitative trait locus 5 NCBI curation 613463 Feb 16 2016 2729 GCLC C1856603 Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to NCBI curation 230450 Feb 16 2016 2729 GCLC C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 2730 GCLM C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 9247 GCM2 CN280929 HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 OMIM 618883 618883 May 16 2020 9247 GCM2 C4479229 Hyperparathyroidism 4 NCBI curation 617343 Jun 20 2017 2651 GCNT2 C0020717 I blood group system NCBI curation 110800 Feb 16 2016 2651 GCNT2 C3805373 Cataract 13 with adult i phenotype NCBI curation 116700 Feb 16 2016 2653 GCSH C0751748 Non-ketotic hyperglycinemia 605899 Feb 16 2016 54332 GDAP1 C1842983 Charcot-Marie-Tooth disease type 2K 607831 Feb 16 2016 54332 GDAP1 C1859198 Charcot-Marie-Tooth disease, type 4A NCBI curation 214400 Feb 16 2016 54332 GDAP1 C1843183 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive NCBI curation 607706 Feb 16 2016 54332 GDAP1 C1842197 Charcot-Marie-Tooth disease, recessive intermediate A NCBI curation 608340 Feb 16 2016 54834 GDAP2 C5193058 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 OMIM 618369 618369 Mar 30 2019 2657 GDF1 C3151221 Transposition of the great arteries, dextro-looped 3 NCBI curation 613854 Feb 16 2016 2657 GDF1 C0175707 Bilateral right-sidedness sequence 208530 Feb 16 2016 2658 GDF2 C3809710 Telangiectasia, hereditary hemorrhagic, type 5 NCBI curation 615506 Feb 16 2016 9573 GDF3 C3150967 Klippel-Feil syndrome 3, autosomal dominant NCBI curation 613702 Feb 16 2016 9573 GDF3 C3150969 Microphthalmia, isolated 7 NCBI curation 613704 Feb 16 2016 9573 GDF3 C3150968 Microphthalmia, isolated, with coloboma 6 NCBI curation 613703 Feb 16 2016 8200 GDF5 C1862103 Brachydactyly type C MONDO MONDO:0007221 113100 Apr 22 2020 8200 GDF5 C1832702 Brachydactyly type A2 MONDO MONDO:0007216 112600 Apr 22 2020 8200 GDF5 C1832708 Multiple synostoses syndrome 2 610017 Feb 16 2016 8200 GDF5 C1856738 Fibular hypoplasia and complex brachydactyly 228900 Feb 16 2016 8200 GDF5 C0029410 Osteoarthritis of hip Human Phenotype Ontology HP:0008843 612400 Apr 10 2018 8200 GDF5 C0265260 Grebe syndrome 200700 Feb 16 2016 8200 GDF5 C2930970 Acromesomelic dysplasia, Hunter-Thompson type MONDO MONDO:0008717 201250 Apr 22 2020 8200 GDF5 C3809104 Symphalangism, proximal, 1B NCBI curation 615298 Jan 20 2020 8200 GDF5 C3554446 Brachydactyly, type a1, c NCBI curation 615072 May 26 2016 392255 GDF6 C2751307 Microphthalmia, isolated 4 NCBI curation 613094 Feb 16 2016 392255 GDF6 C1861689 Klippel-Feil syndrome 1, autosomal dominant NCBI curation 118100 Feb 16 2016 392255 GDF6 C3715164 Leber congenital amaurosis 17 NCBI curation 615360 Feb 16 2016 392255 GDF6 C4693531 MULTIPLE SYNOSTOSES SYNDROME 4 OMIM 617898 617898 Mar 6 2018 392255 GDF6 C3150968 Microphthalmia, isolated, with coloboma 6 NCBI curation 613703 Feb 16 2016 2661 GDF9 C4693941 PREMATURE OVARIAN FAILURE 14 OMIM 618014 618014 Jun 14 2018 2664 GDI1 C3887939 X-Linked Mental Retardation 41 NCBI curation 300849 Feb 16 2016 2668 GDNF C1275808 Congenital central hypoventilation NCBI curation 209880 Feb 16 2016 2668 GDNF C3150974 Hirschsprung disease 3 NCBI curation 613711 Feb 16 2016 2668 GDNF C0031511 Pheochromocytoma Human Phenotype Ontology HP:0002666 171300 Feb 16 2016 8487 GEMIN2 C0026847 Spinal muscular atrophy Human Phenotype Ontology HP:0007269 Feb 16 2016 50628 GEMIN4 C4693567 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES OMIM 617913 617913 Mar 25 2018 2670 GFAP C0270726 Alexander Disease NCBI curation 203450 Oct 19 2018 2671 GFER C2751320 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NCBI curation 613076 Feb 16 2016 2672 GFI1 C1842930 Neutropenia, nonimmune chronic idiopathic, of adults NCBI curation 607847 Feb 16 2016 2672 GFI1 C2751288 Severe congenital neutropenia 2, autosomal dominant NCBI curation 613107 Feb 16 2016 8328 GFI1B C1861194 Platelet-type bleeding disorder 17 NCBI curation 187900 Feb 16 2016 85476 GFM1 C1836797 Combined oxidative phosphorylation deficiency 1 NCBI curation 609060 Feb 16 2016 84340 GFM2 C5193075 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 OMIM 618397 618397 Apr 21 2019 2673 GFPT1 C1837091 Congenital myasthenic syndrome 4C MONDO MONDO:0012157 608931 Apr 17 2020 2673 GFPT1 C3552335 Congenital myasthenic syndrome 12 NCBI curation 610542 Dec 26 2017 2677 GGCX C1848534 Vitamin K-dependent clotting factors, combined deficiency of, 1 NCBI curation 277450 Jan 30 2020 2677 GGCX C1835813 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NCBI curation 610842 Feb 16 2016 2678 GGT1 C0268524 gamma-Glutamyltransferase deficiency 231950 Feb 16 2016 2688 GH1 C2748571 Isolated growth hormone deficiency type 1B 612781 Feb 16 2016 2688 GH1 C0342573 Ateleiotic dwarfism NCBI curation 262400 Feb 16 2016 2688 GH1 C0271567 Autosomal dominant isolated somatotropin deficiency NCBI curation 173100 Feb 16 2016 2688 GH1 C1849779 Short stature due to growth hormone qualitative anomaly MONDO MONDO:0009879 262650 Apr 17 2020 2690 GHR C1858656 Short stature, idiopathic, autosomal NCBI curation 604271 Feb 16 2016 2690 GHR C0271568 Laron-type isolated somatotropin defect 262500 Feb 16 2016 2690 GHR C0745103 Familial hypercholesterolemia 1 NCBI curation 143890 Jan 17 2020 2692 GHRHR C4722273 Isolated growth hormone deficiency, type 4 MONDO MONDO:0032567 618157 May 28 2020 51738 GHRL C0028754 Obesity NCBI curation 601665 Feb 16 2016 2693 GHSR C4707848 Short stature due to growth hormone secretagogue receptor deficiency NCBI curation 615925 Nov 20 2019 26058 GIGYF2 C4083045 Parkinson disease 11 NCBI curation 607688 Feb 16 2016 9837 GINS1 C4693356 Combined immunodeficiency due to GINS1 deficiency MONDO MONDO:0044725 617827 Apr 17 2020 126326 GIPC3 C1866094 Deafness, autosomal recessive 15 NCBI curation 601869 Feb 16 2016 2697 GJA1 C1861366 Syndactyly type 3 186100 Feb 16 2016 2697 GJA1 C2931244 Craniometaphyseal dysplasia, autosomal recessive MONDO MONDO:0009035 218400 Apr 22 2020 2697 GJA1 C3275750 Atrioventricular septal defect 3 NCBI curation 600309 Dec 22 2019 2697 GJA1 C4551854 Hypoplastic left heart syndrome 1 NCBI curation 241550 Aug 31 2017 2697 GJA1 C0812437 Oculodentodigital dysplasia 164200 Feb 16 2016 2697 GJA1 C3151468 Alopecia congenita keratosis palmoplantaris 104100 Feb 16 2016 2697 GJA1 C2749477 Oculodentodigital dysplasia, autosomal recessive NCBI curation 257850 Feb 16 2016 2697 GJA1 C4479619 Erythrokeratodermia variabilis et progressiva 3 NCBI curation 617525 Jun 20 2017 2700 GJA3 C1866078 Zonular pulverulent cataract 3 NCBI curation 601885 Feb 16 2016 2702 GJA5 C2675897 1q21.1 recurrent microdeletion NCBI curation 612474 Feb 16 2016 2702 GJA5 C4551959 Atrial standstill 1 NCBI curation 108770 Aug 24 2016 2702 GJA5 C3279693 Atrial fibrillation, familial, 11 NCBI curation 614049 Feb 16 2016 2703 GJA8 C1861828 Cataract 1 NCBI curation 116200 Feb 16 2016 2703 GJA8 C2675897 1q21.1 recurrent microdeletion NCBI curation 612474 Feb 16 2016 2705 GJB1 C0393808 X-linked hereditary motor and sensory neuropathy 302800 Feb 16 2016 2706 GJB2 C2673759 Deafness, autosomal recessive 1A NCBI curation 220290 Feb 16 2016 2706 GJB2 C2675750 Deafness, autosomal dominant 3a NCBI curation 601544 Feb 16 2016 2706 GJB2 C1865234 Hystrix-like ichthyosis with deafness NCBI curation 602540 Feb 16 2016 2706 GJB2 C0265964 Mutilating keratoderma 124500 Feb 16 2016 2706 GJB2 C2673761 Deafness, digenic, GJB2/GJB3 NCBI curation Feb 16 2016 2706 GJB2 C1835672 Palmoplantar keratoderma-deafness syndrome MONDO MONDO:0007852 148350 Apr 17 2020 2706 GJB2 C0266004 Knuckle pads, deafness AND leukonychia syndrome 149200 Feb 16 2016 2706 GJB2 C1844678 Deafness, X-linked 2 304400 Feb 16 2016 2706 GJB2 C0265336 Keratitis-ichthyosis-deafness syndrome, autosomal dominant NCBI curation 148210 Feb 16 2016 2707 GJB3 C2673761 Deafness, digenic, GJB2/GJB3 NCBI curation Feb 16 2016 2707 GJB3 C2675236 Deafness, autosomal dominant 2b NCBI curation 612644 Feb 16 2016 2707 GJB3 C4551486 Erythrokeratodermia variabilis et progressiva 1 NCBI curation 133200 Jan 14 2020 2707 GJB3 C2673759 Deafness, autosomal recessive 1A NCBI curation 220290 Feb 16 2016 127534 GJB4 C4479618 Erythrokeratodermia variabilis et progressiva 2 NCBI curation 617524 Jun 20 2017 10804 GJB6 C2675237 Deafness, autosomal dominant 3b NCBI curation 612643 Feb 16 2016 10804 GJB6 C2675235 Deafness, autosomal recessive 1b NCBI curation 612645 Feb 16 2016 10804 GJB6 C1844678 Deafness, X-linked 2 304400 Feb 16 2016 10804 GJB6 C2673759 Deafness, autosomal recessive 1A NCBI curation 220290 Feb 16 2016 10804 GJB6 C0162361 Hidrotic ectodermal dysplasia syndrome 129500 Feb 16 2016 57165 GJC2 C1837355 Leukodystrophy, hypomyelinating, 2 NCBI curation 608804 Feb 16 2016 57165 GJC2 C2750784 Spastic paraplegia 44, autosomal recessive NCBI curation 613206 Feb 16 2016 57165 GJC2 C4747646 Lymphatic malformation 3 NCBI curation 613480 Jul 8 2019 2710 GK C0268418 Deficiency of glycerol kinase 307030 Feb 16 2016 2717 GLA C0002986 Fabry disease NCBI curation 301500 Feb 16 2016 2720 GLB1 C0268271 Infantile GM1 gangliosidosis 230500 Feb 16 2016 2720 GLB1 C0086652 Mucopolysaccharidosis, MPS-IV-B 253010 Feb 16 2016 2720 GLB1 C0268272 GM1 gangliosidosis type 2 Orphanet ORPHA79256 230600 Jul 13 2016 2720 GLB1 C0268273 GM1 gangliosidosis type 3 MONDO MONDO:0009262 230650 Apr 22 2020 113263 GLCCI1 C3280689 Glucocorticoid therapy, response to NCBI curation 614400 Feb 16 2016 2731 GLDC C0751748 Non-ketotic hyperglycinemia 605899 Feb 16 2016 342035 GLDN C4310670 Lethal congenital contracture syndrome 11 NCBI curation 617194 Jun 20 2017 2733 GLE1 C5193016 Lethal arthrogryposis with anterior horn cell disease NCBI curation 611890 Feb 16 2016 2733 GLE1 C1854664 Lethal congenital contracture syndrome 1 253310 Feb 16 2016 2735 GLI1 C1868116 Polydactyly, preaxial I NCBI curation 174400 Aug 24 2016 2735 GLI1 C4748277 POLYDACTYLY, POSTAXIAL, TYPE A8 OMIM 618123 618123 Sep 19 2018 2736 GLI2 C4014479 Culler-Jones syndrome NCBI curation 615849 Aug 26 2016 2736 GLI2 C1835819 Holoprosencephaly 9 NCBI curation 610829 Feb 16 2016 2737 GLI3 C0265220 Pallister-Hall syndrome 146510 Feb 16 2016 2737 GLI3 C1868111 Preaxial polydactyly 4 NCBI curation 174700 Feb 16 2016 2737 GLI3 C0342418 Hamartoma of hypothalamus NCBI curation 241800 Feb 16 2016 2737 GLI3 C4282400 Postaxial polydactyly type A1 NCBI curation 174200 Aug 29 2019 2737 GLI3 C0265306 Greig cephalopolysyndactyly syndrome 175700 Feb 16 2016 84662 GLIS2 C1969092 Nephronophthisis 7 NCBI curation 611498 Feb 16 2016 169792 GLIS3 C1857775 Diabetes mellitus, neonatal, with congenital hypothyroidism NCBI curation 610199 Feb 16 2016 11146 GLMN C1841984 Glomuvenous malformations NCBI curation 138000 Feb 16 2016 2741 GLRA1 C4551954 Hyperekplexia 1 NCBI curation 149400 Nov 10 2019 2743 GLRB C3553291 Hyperekplexia 2 NCBI curation 614619 Feb 16 2016 51218 GLRX5 C4225155 Sideroblastic anemia 3, pyridoxine-refractory NCBI curation 616860 Apr 17 2016 51218 GLRX5 C4225178 Spasticity, childhood-onset, with hyperglycinemia NCBI curation 616859 Jul 29 2018 2744 GLS C5193037 INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM 618339 618339 Feb 27 2019 2744 GLS C5193080 GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE OMIM 618412 618412 May 3 2019 2744 GLS C5193030 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71 OMIM 618328 618328 Feb 20 2019 2746 GLUD1 C1847555 Hyperinsulinism-hyperammonemia syndrome 606762 Feb 16 2016 2747 GLUD2 C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 2752 GLUL C1864910 Congenital brain dysgenesis due to glutamine synthetase deficiency MONDO MONDO:0012393 610015 Apr 17 2020 132158 GLYCTK C1291386 Deficiency of glycerate kinase 220120 Feb 16 2016 2760 GM2A C0268275 Tay-Sachs disease, variant AB NCBI curation 272750 Feb 16 2016 51053 GMNN C4225188 Meier-gorlin syndrome 6 NCBI curation 616835 May 26 2016 29926 GMPPA C3809738 Alacrima, achalasia, and mental retardation syndrome NCBI curation 615510 Feb 16 2016 29925 GMPPB C3809216 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 NCBI curation 615350 Aug 24 2016 29925 GMPPB C3809221 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 NCBI curation 615351 Jun 20 2017 29925 GMPPB C3714932 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 NCBI curation 615352 Jun 20 2017 2767 GNA11 C3809243 Hypocalcemia, autosomal dominant 2 NCBI curation 615361 Jun 22 2016 2767 GNA11 C1840347 Hypocalciuric hypercalcemia, familial, type II NCBI curation 145981 Jun 22 2016 2771 GNAI2 C0340485 Familial ventricular tachycardia 192605 Feb 16 2016 2773 GNAI3 C4551996 Auriculocondylar syndrome 1 NCBI curation 602483 Feb 16 2016 2774 GNAL C3554447 Dystonia 25 NCBI curation 615073 Feb 16 2016 2775 GNAO1 C3809606 Early infantile epileptic encephalopathy 17 NCBI curation 615473 Feb 16 2016 2775 GNAO1 C4479569 Neurodevelopmental disorder with involuntary movements NCBI curation 617493 Jun 20 2017 2776 GNAQ C0038505 Sturge-Weber syndrome 185300 Feb 16 2016 2776 GNAQ C0340803 Capillary malformation Human Phenotype Ontology HP:0025104 163000 Apr 4 2018 2778 GNAS C2932716 Pseudohypoparathyroidism type 1C 612462 Feb 16 2016 2778 GNAS C0242292 McCune-Albright syndrome NCBI curation 174800 Feb 16 2016 2778 GNAS C3494506 Pseudohypoparathyroidism Human Phenotype Ontology HP:0000852 103580 Apr 4 2018 2778 GNAS C1864100 Pseudohypoparathyroidism type 1B 603233 Feb 16 2016 2778 GNAS C0334041 Progressive osseous heteroplasia 166350 Feb 16 2016 2778 GNAS C4540135 PITUITARY ADENOMA 3, MULTIPLE TYPES OMIM 617686 617686 Sep 28 2017 2778 GNAS C1857451 Cushing's syndrome NCBI curation 219080 Feb 16 2016 2778 GNAS C0033835 Pseudopseudohypoparathyroidism 612463 Feb 16 2016 149775 GNAS-AS1 C1864100 Pseudohypoparathyroidism type 1B 603233 Feb 16 2016 2779 GNAT1 C1864870 Congenital stationary night blindness, autosomal dominant 3 NCBI curation 610444 Feb 16 2016 2779 GNAT1 C4225345 Night blindness, congenital stationary, type 1g NCBI curation 616389 Feb 16 2016 2780 GNAT2 C1841721 Achromatopsia 4 NCBI curation 613856 Feb 16 2016 2782 GNB1 C4310774 Mental retardation, autosomal dominant 42 NCBI curation 616973 Aug 24 2016 2782 GNB1 C0023449 Acute lymphoid leukemia NCBI curation 613065 Sep 22 2016 2784 GNB3 C0085580 Essential hypertension 145500 Feb 16 2016 2784 GNB3 C4310758 Night blindness, congenital stationary, type 1h NCBI curation 617024 Aug 24 2016 59345 GNB4 C3554654 Charcot-Marie-Tooth disease, dominant intermediate F NCBI curation 615185 Feb 16 2016 10681 GNB5 C4310678 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia NCBI curation 617182 Jun 20 2017 10681 GNB5 C4310682 Intellectual developmental disorder with cardiac arrhythmia NCBI curation 617173 Jun 20 2017 10020 GNE C1853926 GNE myopathy Orphanet ORPHA602 605820 Jul 8 2019 10020 GNE C0342853 Sialuria GeneReviews NBK1164 269921 Feb 16 2016 27232 GNMT C1847720 Glycine N-methyltransferase deficiency 606664 Feb 16 2016 8443 GNPAT C1857242 Rhizomelic chondrodysplasia punctata type 2 222765 Feb 16 2016 79158 GNPTAB C2673377 Mucolipidosis type II MONDO MONDO:0009650 252500 Apr 22 2020 79158 GNPTAB C0033788 Pseudo-Hurler polydystrophy 252600 Feb 16 2016 84572 GNPTG C1854896 Mucolipidosis type III gamma MONDO MONDO:0009652 252605 Apr 22 2020 2796 GNRH1 C1856897 Hypogonadotropic hypogonadism 12 with or without anosmia NCBI curation 614841 Feb 16 2016 2796 GNRH1 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 2798 GNRHR C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 2799 GNS C0086650 Mucopolysaccharidosis, MPS-III-D 252940 Feb 16 2016 92344 GORAB C0432255 Geroderma osteodysplastica 231070 Feb 16 2016 9570 GOSR2 C3279627 Epilepsy, progressive myoclonic 6 NCBI curation 614018 Feb 16 2016 2805 GOT1 C3280741 Aspartate aminotransferase, serum level of, quantitative trait locus 1 NCBI curation 614419 Feb 16 2016 2806 GOT2 C5231473 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 OMIM 618721 618721 Dec 29 2019 2811 GP1BA C1280798 Pseudo von Willebrand disease NCBI curation 177820 Feb 16 2016 2811 GP1BA C3277076 Bernard-Soulier syndrome, type A2, autosomal dominant NCBI curation 153670 Feb 16 2016 2811 GP1BA C1847711 Nonarteritic anterior ischemic optic neuropathy, susceptibility to NCBI curation 258660 Feb 16 2016 2811 GP1BA C0005129 Bernard Soulier syndrome NCBI curation 231200 Feb 16 2016 2812 GP1BB C0005129 Bernard Soulier syndrome NCBI curation 231200 Feb 16 2016 51206 GP6 C3280120 Platelet-type bleeding disorder 11 NCBI curation 614201 Feb 16 2016 2815 GP9 C0005129 Bernard Soulier syndrome NCBI curation 231200 Feb 16 2016 8733 GPAA1 C4540520 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 OMIM 617810 617810 Dec 17 2017 2719 GPC3 C0796154 Simpson-Golabi-Behmel syndrome 312870 Feb 16 2016 2719 GPC3 CN033288 Wilms tumor 1 NCBI curation 194070 Feb 16 2016 2239 GPC4 CN033288 Wilms tumor 1 NCBI curation 194070 Feb 16 2016 2239 GPC4 C1850627 Keipert syndrome NCBI curation 301026 Jun 16 2019 2239 GPC4 C0796154 Simpson-Golabi-Behmel syndrome 312870 Feb 16 2016 10082 GPC6 C1850318 Autosomal recessive omodysplasia MONDO MONDO:0009779 258315 Apr 22 2020 2819 GPD1 C3280953 Hypertriglyceridemia, transient infantile NCBI curation 614480 Feb 16 2016 23171 GPD1L C2673193 Brugada syndrome 2 NCBI curation 611777 Feb 16 2016 2820 GPD2 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 10243 GPHN C1854990 Molybdenum cofactor deficiency, complementation group C NCBI curation 615501 Feb 16 2016 10243 GPHN C4551954 Hyperekplexia 1 NCBI curation 149400 Nov 10 2019 2821 GPI C3150730 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NCBI curation 613470 Feb 16 2016 338328 GPIHBP1 C4014767 Hyperlipoproteinemia, type ID NCBI curation 615947 Apr 19 2016 10457 GPNMB C4554421 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 OMIM 617920 617920 Mar 29 2018 83550 GPR101 C4012409 Pituitary adenoma, growth hormone-secreting, 2 NCBI curation 300943 Feb 16 2016 83550 GPR101 C3891556 Chromosome Xq26.3 duplication syndrome NCBI curation 300942 Feb 16 2016 4935 GPR143 C3151752 Nystagmus 6, congenital, X-linked NCBI curation 300814 Feb 16 2016 4935 GPR143 C0342684 Ocular albinism, type I NCBI curation 300500 Feb 16 2016 440435 GPR179 C3281215 Congenital stationary night blindness, type 1E NCBI curation 614565 Feb 16 2016 8111 GPR68 C4310665 Amelogenesis imperfecta, hypomaturation type IIA6 NCBI curation 617217 Jun 20 2017 54112 GPR88 C4310787 Chorea, childhood-onset, with psychomotor retardation NCBI curation 616939 Jun 24 2016 114928 GPRASP2 C4746975 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO MONDO:0044702 301018 Apr 17 2020 29899 GPSM2 C1858695 Chudley-McCullough syndrome NCBI curation 604213 Feb 16 2016 84706 GPT2 C4225388 Mental retardation, autosomal recessive 49 NCBI curation 616281 Feb 16 2016 2876 GPX1 C0398747 Glutathione peroxidase deficiency NCBI curation 614164 Feb 16 2016 2879 GPX4 C1855229 Spondylometaphyseal dysplasia, Sedaghatian type MONDO MONDO:0009593 250220 Apr 22 2020 10750 GRAP C5193107 DEAFNESS, AUTOSOMAL RECESSIVE 114 OMIM 618456 618456 Jun 5 2019 80000 GREB1L C4540497 Renal hypodysplasia/aplasia 3 NCBI curation 617805 Jan 20 2020 64388 GREM2 C4310638 Tooth agenesis, selective, 9 NCBI curation 617275 Jun 20 2017 79977 GRHL2 C1837640 Deafness, autosomal dominant 28 NCBI curation 608641 Feb 16 2016 79977 GRHL2 C4014987 Ectodermal dysplasia/short stature syndrome NCBI curation 616029 Feb 16 2016 79977 GRHL2 C4747961 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 OMIM 618031 618031 Jun 28 2018 57822 GRHL3 C1847604 Van der Woude syndrome 2 NCBI curation 606713 May 26 2016 9380 GRHPR C0268165 Primary hyperoxaluria, type II 260000 Feb 16 2016 2891 GRIA2 CN283239 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES OMIM 618917 618917 Jun 27 2020 2892 GRIA3 C2678051 Mental retardation, X-linked, syndromic, wu type NCBI curation 300699 Feb 16 2016 2893 GRIA4 C4693391 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES OMIM 617864 617864 Feb 9 2018 2895 GRID2 C4015505 Spinocerebellar ataxia, autosomal recessive 18 NCBI curation 616204 Feb 16 2016 2898 GRIK2 C1970198 Mental retardation, autosomal recessive 6 NCBI curation 611092 Feb 16 2016 2902 GRIN1 C4693325 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE OMIM 617820 617820 Jan 11 2018 2902 GRIN1 C3280282 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant NCBI curation 614254 Mar 9 2018 2903 GRIN2A C3806402 Epilepsy, focal, with speech disorder and with or without mental retardation NCBI curation 245570 Aug 24 2016 2904 GRIN2B C3151411 Mental retardation, autosomal dominant 6 NCBI curation 613970 Feb 16 2016 2904 GRIN2B C4015316 Epileptic encephalopathy, early infantile, 27 NCBI curation 616139 Feb 16 2016 2906 GRIN2D C4310687 Epileptic encephalopathy, early infantile, 46 NCBI curation 617162 Jun 20 2017 23426 GRIP1 C4540040 FRASER SYNDROME 3 OMIM 617667 617667 Sep 15 2017 6011 GRK1 C3150678 Oguchi disease 2 NCBI curation 613411 Feb 16 2016 2911 GRM1 C4521563 SPINOCEREBELLAR ATAXIA 44 OMIM 617691 617691 Sep 27 2017 2911 GRM1 C3553816 Spinocerebellar ataxia, autosomal recessive 13 NCBI curation 614831 Feb 16 2016 2916 GRM6 C1850362 Congenital stationary night blindness, type 1B NCBI curation 257270 Feb 16 2016 2896 GRN C3539123 Ceroid lipofuscinosis, neuronal, 11 NCBI curation 614706 Feb 16 2016 2896 GRN C1843792 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO MONDO:0011842 607485 Apr 22 2020 389207 GRXCR1 C1414017 Deafness, autosomal recessive 25 NCBI curation 613285 Feb 16 2016 643226 GRXCR2 C3892049 Deafness, autosomal recessive 101 NCBI curation 615837 Feb 16 2016 145258 GSC C1865361 Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities NCBI curation 602471 Aug 24 2016 1687 GSDME C1832932 Deafness, autosomal dominant 5 NCBI curation 600994 Feb 16 2016 2934 GSN C1622345 Meretoja syndrome NCBI curation 105120 Feb 16 2016 2936 GSR C5231513 HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY OMIM 618660 618660 Nov 28 2019 2937 GSS C0398746 Gluthathione synthetase deficiency 266130 Feb 16 2016 2937 GSS C1856399 Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to NCBI curation 231900 Feb 16 2016 2954 GSTZ1 C1291607 MALEYLACETOACETATE ISOMERASE DEFICIENCY OMIM 617596 617596 Jul 29 2017 170825 GSX2 C5231440 DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 OMIM 618646 618646 Nov 1 2019 2961 GTF2E2 C4310785 Trichothiodystrophy 6, nonphotosensitive NCBI curation 616943 May 26 2016 404672 GTF2H5 C4017171 Trichothiodystrophy 3, photosensitive NCBI curation 616395 Feb 16 2016 54676 GTPBP2 C4693848 JABERI-ELAHI SYNDROME OMIM 617988 617988 May 24 2018 84705 GTPBP3 C4015447 Combined oxidative phosphorylation deficiency 23 NCBI curation 616198 Feb 16 2016 2978 GUCA1A C1865869 Cone dystrophy 3 NCBI curation 602093 Feb 16 2016 2979 GUCA1B C3151190 Retinitis pigmentosa 48 NCBI curation 613827 Feb 16 2016 2982 GUCY1A1 C3810403 Moyamoya disease 6 with achalasia NCBI curation 615750 Feb 16 2016 2984 GUCY2C C3553270 Diarrhea 6 NCBI curation 614616 Feb 16 2016 2984 GUCY2C C2939175 Meconium ileus Human Phenotype Ontology HP:0004401 614665 Feb 16 2016 3000 GUCY2D C1866293 Cone-rod dystrophy 6 601777 Feb 16 2016 3000 GUCY2D C4551884 Choroidal dystrophy, central areolar 1 NCBI curation 215500 Dec 26 2019 3000 GUCY2D C2931258 Leber congenital amaurosis 1 NCBI curation 204000 Feb 16 2016 3000 GUCY2D C5231408 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I OMIM 618555 618555 Aug 30 2019 60558 GUF1 C4310737 Epileptic encephalopathy, early infantile, 40 NCBI curation 617065 Aug 24 2016 2990 GUSB C0085132 Mucopolysaccharidosis type 7 MONDO MONDO:0009662 253220 Apr 17 2020 2992 GYG1 C4015452 Polyglucosan body myopathy 2 NCBI curation 616199 Feb 16 2016 2992 GYG1 C3150754 Glycogen storage disease XV NCBI curation 613507 Feb 16 2016 2993 GYPA C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 2993 GYPA C0026327 BLOOD GROUP, MN OMIM 111300 111300 Mar 30 2018 2994 GYPB C4551874 BLOOD GROUP, Ss OMIM 111740 111740 Mar 30 2018 2994 GYPB C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 2995 GYPC C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 2995 GYPC C1292300 Blood group, Gerbich system NCBI curation 616089 Feb 16 2016 2997 GYS1 C1969054 Glycogen storage disease 0, muscle NCBI curation 611556 Feb 16 2016 2998 GYS2 C1855861 Glycogen storage disease due to hepatic glycogen synthase deficiency MONDO MONDO:0009414 240600 Apr 17 2020 64412 GZF1 C4540020 JOINT LAXITY, SHORT STATURE, AND MYOPIA OMIM 617662 617662 Sep 10 2017 3008 H1-4 C4479637 RAHMAN SYNDROME OMIM 617537 617537 Jun 29 2017 283120 H19 CN033288 Wilms tumor 1 NCBI curation 194070 Feb 16 2016 105259599 H19-ICR C0175693 Russell-Silver syndrome NCBI curation 180860 Feb 16 2016 105259599 H19-ICR C0004903 Beckwith-Wiedemann syndrome 130650 Feb 16 2016 105259599 H19-ICR C3887743 Wilms tumor 2 NCBI curation 194071 Feb 16 2016 8358 H3C2 C0376545 Hematologic neoplasm NCBI curation Feb 16 2016 9563 H6PD C3551716 Cortisone reductase deficiency 1 NCBI curation 604931 Feb 16 2016 23498 HAAO C4540004 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 OMIM 617660 617660 Sep 23 2017 3026 HABP2 C3160733 Venous thrombosis Human Phenotype Ontology HP:0004936 188050 Feb 16 2016 3026 HABP2 C4225292 Thyroid cancer, nonmedullary, 5 NCBI curation 616535 Feb 16 2016 57531 HACE1 C4225215 Spastic paraplegia and psychomotor retardation with or without seizures NCBI curation 616756 Feb 16 2016 3033 HADH C1291230 Deficiency of 3-hydroxyacyl-CoA dehydrogenase 231530 Feb 16 2016 3033 HADH C1864948 Hyperinsulinemic hypoglycemia, familial, 4 NCBI curation 609975 Feb 16 2016 3030 HADHA C1969443 Mitochondrial trifunctional protein deficiency NCBI curation 609015 Nov 2 2018 3030 HADHA C3711645 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency NCBI curation 609016 Feb 16 2016 3032 HADHB C1969443 Mitochondrial trifunctional protein deficiency NCBI curation 609015 Nov 2 2018 3029 HAGH C3279657 Hydroxyacyl glutathione hydrolase deficiency NCBI curation 614033 Feb 16 2016 3034 HAL C0220992 Histidinemia Human Phenotype Ontology HP:0010906 235800 Apr 10 2018 57817 HAMP C1865616 Hemochromatosis type 2B NCBI curation 613313 Feb 16 2016 3035 HARS1 C3281066 Usher syndrome, type 3B NCBI curation 614504 Feb 16 2016 3035 HARS1 C4225265 Charcot-Marie-Tooth disease, axonal, type 2w NCBI curation 616625 Feb 16 2016 23438 HARS2 C3554105 Perrault syndrome 2 NCBI curation 614926 Feb 16 2016 84868 HAVCR2 C0522624 Subcutaneous panniculitis-like T-cell lymphoma 618398 Feb 16 2016 10456 HAX1 CN032247 Severe congenital neutropenia 3, autosomal recessive NCBI curation 610738 Feb 16 2016 3039 HBA1 C4693798 METHEMOGLOBINEMIA, ALPHA TYPE OMIM 617973 617973 May 12 2018 3039 HBA1 C4693823 ERYTHROCYTOSIS, FAMILIAL, 7 OMIM 617981 617981 May 23 2018 3039 HBA1 C3161174 Hemoglobin H disease MONDO MONDO:0013512 613978 Apr 17 2020 3039 HBA1 C0002312 alpha Thalassemia NCBI curation 604131 Feb 16 2016 3039 HBA1 C0700299 Heinz body anemia Human Phenotype Ontology HP:0005511 140700 Feb 16 2016 3039 HBA1 C0700299 Heinz body anemia Orphanet ORPHA178330 140700 Feb 16 2016 3040 HBA2 C0700299 Heinz body anemia Human Phenotype Ontology HP:0005511 140700 Feb 16 2016 3040 HBA2 C0700299 Heinz body anemia Orphanet ORPHA178330 140700 Feb 16 2016 3040 HBA2 C0002312 alpha Thalassemia NCBI curation 604131 Feb 16 2016 3040 HBA2 C3161174 Hemoglobin H disease MONDO MONDO:0013512 613978 Apr 17 2020 3040 HBA2 C4693823 ERYTHROCYTOSIS, FAMILIAL, 7 OMIM 617981 617981 May 23 2018 3043 HBB C4693822 Erythrocytosis 6, familial NCBI curation 617980 Jul 23 2018 3043 HBB C1840779 Methemoglobinemia, beta-globin type NCBI curation 617971 Feb 16 2016 3043 HBB C0002312 alpha Thalassemia NCBI curation 604131 Feb 16 2016 3043 HBB C0005283 beta Thalassemia NCBI curation 613985 Feb 16 2016 3043 HBB C0002895 Hb SS disease NCBI curation 603903 Feb 16 2016 3043 HBB C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 3043 HBB C1858990 Beta-thalassemia, dominant inclusion body type NCBI curation 603902 Feb 16 2016 3043 HBB C0700299 Heinz body anemia Human Phenotype Ontology HP:0005511 140700 Feb 16 2016 3043 HBB C0700299 Heinz body anemia Orphanet ORPHA178330 140700 Feb 16 2016 3043 HBB C1841621 Fetal hemoglobin quantitative trait locus 1 NCBI curation 141749 Feb 16 2016 109580095 HBB-LCR C0005283 beta Thalassemia NCBI curation 613985 Feb 16 2016 3047 HBG1 C1841621 Fetal hemoglobin quantitative trait locus 1 NCBI curation 141749 Feb 16 2016 3048 HBG2 C1841621 Fetal hemoglobin quantitative trait locus 1 NCBI curation 141749 Feb 16 2016 3048 HBG2 C3151421 Cyanosis, transient neonatal NCBI curation 613977 Feb 16 2016 3052 HCCS C0796070 Linear skin defects with multiple congenital anomalies 1 NCBI curation 309801 Aug 24 2016 3054 HCFC1 C0796208 Mental retardation 3, X-linked NCBI curation 309541 Feb 16 2016 3054 HCFC1 CN043592 Disorders of Intracellular Cobalamin Metabolism Feb 16 2016 348980 HCN1 C5193120 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 OMIM 618482 618482 Jun 27 2019 348980 HCN1 C4014531 Epileptic encephalopathy, early infantile, 24 NCBI curation 615871 Feb 16 2016 10021 HCN4 C2751083 Brugada syndrome 8 NCBI curation 613123 Jun 5 2016 10021 HCN4 C1834144 Sick sinus syndrome 2, autosomal dominant NCBI curation 163800 Feb 16 2016 3060 HCRT C1834372 Narcolepsy 1 NCBI curation 161400 Apr 18 2016 9759 HDAC4 C2931817 Chromosome 2q37 deletion syndrome NCBI curation Feb 16 2016 10013 HDAC6 C3275476 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia NCBI curation 300863 Feb 16 2016 55869 HDAC8 C3550903 Cornelia de Lange syndrome 5 NCBI curation 300882 Feb 16 2016 55869 HDAC8 C0270972 De Lange syndrome NCBI curation Feb 16 2016 3067 HDC C0040517 Tourette Syndrome GeneReviews NBK21138 137580 Feb 16 2016 57520 HECW2 C4310643 Neurodevelopmental disorder with hypotonia, seizures, and absent language NCBI curation 617268 Jun 20 2017 3070 HELLS C4310798 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 NCBI curation 616911 Aug 13 2017 220296 HEPACAM CN034246 Megalencephalic leukoencephalopathy with subcortical cysts 1 NCBI curation 604004 Feb 16 2016 220296 HEPACAM C1858854 Megalencephalic leukoencephalopathy with subcortical cysts NCBI curation Feb 16 2016 220296 HEPACAM C3151355 Megalencephalic leukoencephalopathy with subcortical cysts 2a NCBI curation 613925 Feb 16 2016 220296 HEPACAM C3151356 Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation NCBI curation 613926 Feb 16 2016 341208 HEPHL1 C1849811 Pili torti-developmental delay-neurological abnormalities syndrome MONDO MONDO:0009871 261990 Apr 17 2020 8925 HERC1 C4310766 Macrocephaly, dysmorphic facies, and psychomotor retardation NCBI curation 617011 Aug 24 2016 8924 HERC2 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 8924 HERC2 C1856895 Skin/hair/eye pigmentation, variation in, 1 NCBI curation 227220 Feb 16 2016 8924 HERC2 C3809753 Mental retardation, autosomal recessive 38 NCBI curation 615516 Feb 16 2016 84667 HES7 C0265343 Jarcho-Levin syndrome NCBI curation Feb 16 2016 84667 HES7 C3150942 Spondylocostal dysostosis 4, autosomal recessive NCBI curation 613686 Feb 16 2016 8820 HESX1 C0338503 Septo-optic dysplasia sequence 182230 Feb 16 2016 8820 HESX1 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 3073 HEXA C0039373 Tay-Sachs disease 272800 Feb 16 2016 3074 HEXB C0036161 Sandhoff disease 268800 Feb 16 2016 3077 HFE C0162532 Variegate porphyria 176200 Feb 16 2016 3077 HFE C0268323 Familial porphyria cutanea tarda 176100 Feb 16 2016 3077 HFE C3280096 Transferrin serum level quantitative trait locus 2 NCBI curation 614193 Feb 16 2016 3077 HFE C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 Feb 19 2020 3077 HFE C3469186 Hemochromatosis type 1 NCBI curation 235200 Feb 16 2016 3077 HFE C2673520 Microvascular complications of diabetes 7 NCBI curation 612635 Feb 16 2016 164045 HFM1 C3810376 Premature ovarian failure 9 NCBI curation 615724 Feb 16 2016 3081 HGD C0002066 Alkaptonuria GeneReviews NBK1454 203500 Feb 16 2016 3082 HGF C1842342 Deafness, autosomal recessive 39 NCBI curation 608265 Feb 16 2016 138050 HGSNAT C4225287 Retinitis pigmentosa 73 NCBI curation 616544 Oct 16 2016 138050 HGSNAT C0086649 Mucopolysaccharidosis, MPS-III-C 252930 Feb 16 2016 26275 HIBCH C0342738 Beta-hydroxyisobutyryl-CoA deacylase deficiency NCBI curation 250620 Feb 16 2016 51501 HIKESHI C4225170 Leukodystrophy, hypomyelinating, 13 NCBI curation 616881 Aug 13 2017 3094 HINT1 CN074193 Autosomal recessive axonal neuropathy with neuromyotonia NCBI curation 137200 Oct 31 2018 3097 HIVEP2 C4310771 Mental retardation, autosomal dominant 43 NCBI curation 616977 Aug 13 2017 148738 HJV C1865614 Hemochromatosis type 2A NCBI curation 602390 Feb 16 2016 3098 HK1 C3150343 Hemolytic anemia due to hexokinase deficiency 235700 Feb 16 2016 3098 HK1 C1854449 Neuropathy, hereditary motor and sensory, Russe type NCBI curation 605285 Jan 22 2018 3098 HK1 C4479526 Retinitis pigmentosa 79 NCBI curation 617460 Jun 20 2017 3098 HK1 C5231404 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES OMIM 618547 618547 Aug 23 2019 3105 HLA-A CN077964 Carbamazepine response NCBI curation Feb 16 2016 3105 HLA-A C1840548 Susceptibility to severe cutaneous adverse reaction NCBI curation 608579 Feb 16 2016 3106 HLA-B C1840548 Susceptibility to severe cutaneous adverse reaction NCBI curation 608579 Feb 16 2016 3106 HLA-B CN077964 Carbamazepine response NCBI curation Feb 16 2016 3106 HLA-B C1840547 Abacavir hypersensitivity NCBI curation Feb 16 2016 3106 HLA-B CN160494 Allopurinol response NCBI curation Feb 16 2016 3106 HLA-B C1862852 Ankylosing spondylitis NCBI curation 106300 Jul 6 2018 3106 HLA-B C3277286 Carbamazepine hypersensitivity NCBI curation Feb 16 2016 3107 HLA-C C1867449 Psoriasis susceptibility 1 NCBI curation 177900 Feb 16 2016 3107 HLA-C C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 3119 HLA-DQB1 C1868685 Multiple sclerosis susceptibility NCBI curation 126200 Feb 16 2016 3119 HLA-DQB1 C0022336 Jakob-Creutzfeldt disease 123400 Feb 16 2016 3123 HLA-DRB1 C2697310 Sarcoidosis 1 NCBI curation 181000 Feb 16 2016 3123 HLA-DRB1 C1868685 Multiple sclerosis susceptibility NCBI curation 126200 Feb 16 2016 3135 HLA-G C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 3141 HLCS C0268581 Holocarboxylase synthetase deficiency 253270 Feb 16 2016 3145 HMBS C0162565 Acute intermittent porphyria 176000 Feb 16 2016 83872 HMCN1 C1864205 Age-related macular degeneration 1 NCBI curation 603075 May 25 2016 3159 HMGA1 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 8091 HMGA2 CN282530 Silver-Russell syndrome 5 NCBI curation 618908 Jun 17 2020 3149 HMGB3 C3806742 Microphthalmia, syndromic 13 NCBI curation 300915 Feb 16 2016 3155 HMGCL C0268601 Deficiency of hydroxymethylglutaryl-CoA lyase NCBI curation 246450 Feb 16 2016 3158 HMGCS2 C2751532 mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency NCBI curation 605911 Feb 16 2016 3161 HMMR C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 3162 HMOX1 C1841651 Heme oxygenase 1 deficiency NCBI curation 614034 Feb 16 2016 3162 HMOX1 C0024117 Chronic obstructive pulmonary disease Human Phenotype Ontology HP:0006510 606963 Jul 6 2018 3166 HMX1 C2677500 Oculoauricular syndrome NCBI curation 612109 Feb 16 2016 6927 HNF1A C3160732 Renal cell carcinoma, nonpapillary NCBI curation 144700 Feb 16 2016 6927 HNF1A C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 6927 HNF1A C1838100 Maturity-onset diabetes of the young, type 3 NCBI curation 600496 Dec 13 2018 6927 HNF1A C2675866 Diabetes mellitus, insulin-dependent, 20 NCBI curation 612520 May 23 2016 6927 HNF1A C1840646 Hepatic adenomas, familial NCBI curation 142330 Feb 16 2016 6927 HNF1A C0011854 Diabetes mellitus type 1 NCBI curation 222100 Feb 16 2016 6928 HNF1B C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 6928 HNF1B C0431693 Familial hypoplastic, glomerulocystic kidney 137920 Feb 16 2016 6928 HNF1B C3160732 Renal cell carcinoma, nonpapillary NCBI curation 144700 Feb 16 2016 3172 HNF4A C4014962 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young NCBI curation 616026 Feb 16 2016 3172 HNF4A C1852093 Maturity-onset diabetes of the young, type 1 NCBI curation 125850 Dec 31 2019 3172 HNF4A C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 3172 HNF4A C3888018 Familial hyperinsulinism NCBI curation Feb 16 2016 3176 HNMT C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 3176 HNMT C4225220 Mental retardation, autosomal recessive 51 NCBI curation 616739 Feb 16 2016 3178 HNRNPA1 C3715156 Amyotrophic lateral sclerosis 20 NCBI curation 615426 Feb 16 2016 3178 HNRNPA1 C3809469 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 NCBI curation 615424 Feb 16 2016 3178 HNRNPA1 C1833662 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia NCBI curation Jan 18 2020 3181 HNRNPA2B1 C1833662 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia NCBI curation Jan 18 2020 3181 HNRNPA2B1 C3809468 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 NCBI curation 615422 Jan 18 2020 9987 HNRNPDL C1836765 Limb-girdle muscular dystrophy, type 1G NCBI curation 609115 Feb 16 2016 3188 HNRNPH2 C4310814 Mental retardation, X-linked, syndromic, Bain type NCBI curation 300986 Jun 20 2017 3190 HNRNPK C4225274 AU-KLINE SYNDROME OMIM 616580 616580 Feb 16 2016 3192 HNRNPU C4479319 Epileptic encephalopathy, early infantile, 54 NCBI curation 617391 Jun 20 2017 112817 HOGA1 C3150878 Primary hyperoxaluria, type III NCBI curation 613616 Feb 16 2016 9455 HOMER2 C4225240 Deafness, autosomal dominant 68 NCBI curation 616707 Feb 16 2016 3198 HOXA1 C1832215 Human HOXA1 syndromes MONDO MONDO:0011099 601536 May 27 2020 3207 HOXA11 C4551975 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 NCBI curation 605432 Jan 9 2020 3209 HOXA13 C1867801 Guttmacher syndrome MONDO MONDO:0008301 176305 Apr 17 2020 3209 HOXA13 C1841679 Hand-foot-genital syndrome MONDO MONDO:0007698 140000 Apr 22 2020 3199 HOXA2 C2676772 Microtia, hearing impairment, and cleft palate NCBI curation 612290 Feb 16 2016 3211 HOXB1 C3553625 Hereditary congenital facial paresis 3 NCBI curation 614744 Feb 16 2016 10481 HOXB13 C1970250 Prostate cancer, hereditary, 9 NCBI curation 610997 Feb 16 2016 3229 HOXC13 C3554127 Ectodermal dysplasia 9, hair/nail type NCBI curation 614931 Feb 16 2016 3236 HOXD10 C0240912 Vertical talus, congenital 192950 Feb 16 2016 3239 HOXD13 C0220664 Brachydactyly type D Human Phenotype Ontology HP:0005627 113200 Apr 22 2020 3239 HOXD13 C0220664 Brachydactyly type D MONDO MONDO:0007222 113200 Apr 22 2020 3239 HOXD13 C2699746 Synpolydactyly 1 NCBI curation 186000 May 24 2017 3239 HOXD13 C1861348 Syndactyly, type V NCBI curation 186300 Jun 27 2016 3239 HOXD13 C1862102 Brachydactyly type E1 NCBI curation 113300 Feb 16 2016 3239 HOXD13 C1853137 Brachydactyly-syndactyly syndrome NCBI curation 610713 Feb 16 2016 3240 HP C3279786 Anhaptoglobinemia NCBI curation 614081 Feb 16 2016 3208 HPCA C1857093 Torsion dystonia 2 MONDO MONDO:0009141 224500 Apr 17 2020 3242 HPD C2931042 Hawkinsinuria Orphanet ORPHA2118 140350 Dec 25 2019 3242 HPD C0268623 Tyrosinemia type 3 NCBI curation 276710 Dec 25 2019 3248 HPGD C0345408 Digital clubbing, isolated congenital NCBI curation 119900 Feb 16 2016 3248 HPGD C4551679 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 NCBI curation 259100 Feb 5 2020 3251 HPRT1 C0268117 Partial hypoxanthine-guanine phosphoribosyltransferase deficiency 300323 Feb 16 2016 3251 HPRT1 C0023374 Lesch-Nyhan syndrome NCBI curation 300322 Feb 16 2016 3257 HPS1 C2931875 Hermansky-Pudlak syndrome 1 NCBI curation 203300 Feb 16 2016 84343 HPS3 C3888001 Hermansky-Pudlak syndrome 3 NCBI curation 614072 Feb 16 2016 89781 HPS4 C3484357 Hermansky-Pudlak syndrome 4 NCBI curation 614073 Feb 16 2016 11234 HPS5 C3888004 Hermansky-Pudlak syndrome 5 NCBI curation 614074 Feb 16 2016 79803 HPS6 C3888007 Hermansky-Pudlak syndrome 6 NCBI curation 614075 Feb 16 2016 60495 HPSE2 CN033872 Urofacial syndrome 1 NCBI curation 236730 Feb 1 2020 55806 HR C1859877 Alopecia universalis congenita NCBI curation 203655 Feb 16 2016 55806 HR C2750815 Hypotrichosis 4 NCBI curation 146550 Aug 24 2016 55806 HR C1859592 Atrichia with papular lesions NCBI curation 209500 Feb 16 2016 3265 HRAS C0005684 Urinary bladder cancer MONDO MONDO:0001187 109800 May 6 2020 3265 HRAS C0334082 Epidermal nevus Human Phenotype Ontology HP:0010816 162900 Feb 16 2016 3265 HRAS C4225426 Follicular thyroid carcinoma Human Phenotype Ontology HP:0006731 188470 Apr 4 2018 3265 HRAS C0265318 Epidermal nevus syndrome NCBI curation 163200 Feb 16 2016 3265 HRAS C0587248 Costello syndrome 218040 Feb 16 2016 3265 HRAS C1842036 Large congenital melanocytic nevus MONDO MONDO:0044792 137550 Apr 17 2020 3273 HRG C2751090 Thrombophilia, histidine-rich glycoprotein-related NCBI curation 613116 Feb 16 2016 9394 HS6ST1 C3553977 Hypogonadotropic hypogonadism 15 with or without anosmia NCBI curation 614880 Feb 16 2016 90161 HS6ST2 C5193010 PAGANINI-MIOZZO SYNDROME OMIM 301025 301025 Jun 20 2019 3290 HSD11B1 C3553382 Cortisone reductase deficiency 2 NCBI curation 614662 Feb 16 2016 3291 HSD11B2 C3887949 Apparent mineralocorticoid excess 218030 Feb 16 2016 3028 HSD17B10 C3266731 HSD10 disease Orphanet ORPHA391417 300438 Jan 5 2020 3293 HSD17B3 C0268296 Testosterone 17-beta-dehydrogenase deficiency 264300 Feb 16 2016 3295 HSD17B4 C0342870 Bifunctional peroxisomal enzyme deficiency 261515 Feb 16 2016 3295 HSD17B4 C4551721 Perrault syndrome 1 NCBI curation 233400 Apr 6 2018 3284 HSD3B2 C0342471 3 beta-Hydroxysteroid dehydrogenase deficiency NCBI curation 201810 Feb 16 2016 80270 HSD3B7 C1843116 Congenital bile acid synthesis defect 1 MONDO MONDO:0011906 607765 Apr 22 2020 3299 HSF4 C3888417 Cataract 5 multiple types MONDO MONDO:0007290 116800 Apr 22 2020 86614 HSFY1 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 3313 HSPA9 C4225180 Even-plus syndrome NCBI curation 616854 Aug 13 2017 3313 HSPA9 C4225428 Anemia, sideroblastic, 4 NCBI curation 182170 Aug 24 2016 3315 HSPB1 C2608087 Distal hereditary motor neuronopathy type 2B NCBI curation 608634 Feb 16 2016 3315 HSPB1 C1847823 Charcot-Marie-Tooth disease axonal type 2F MONDO MONDO:0011687 606595 Apr 22 2020 8988 HSPB3 C3150619 Distal hereditary motor neuronopathy type 2C NCBI curation 613376 Feb 16 2016 26353 HSPB8 C1834692 Distal hereditary motor neuronopathy type 2A NCBI curation 158590 Feb 16 2016 26353 HSPB8 C1837552 Charcot-Marie-Tooth disease, type 2L NCBI curation 608673 Feb 16 2016 3329 HSPD1 C1854467 Hereditary spastic paraplegia 13 MONDO MONDO:0011532 605280 Apr 17 2020 3329 HSPD1 C2677109 Leukodystrophy, hypomyelinating, 4 NCBI curation 612233 Feb 16 2016 3339 HSPG2 C4551479 Schwartz-Jampel syndrome MONDO MONDO:0009717 255800 Apr 22 2020 3339 HSPG2 C0432208 Lethal Kniest-like syndrome 224410 Feb 16 2016 3350 HTR1A C3553418 Periodic fever, menstrual cycle-dependent NCBI curation 614674 Feb 16 2016 3356 HTR2A C0028768 Obsessive-compulsive disorder NCBI curation 164230 Feb 16 2016 3356 HTR2A C1847492 Anorexia nervosa 1 NCBI curation 606788 Feb 16 2016 3356 HTR2A C0001973 Alcohol dependence NCBI curation 103780 Jul 6 2018 3356 HTR2A C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 3356 HTR2A C1269683 Major depressive disorder NCBI curation 608516 Jul 6 2018 5654 HTRA1 C4225211 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 NCBI curation 616779 Feb 16 2016 5654 HTRA1 C1857813 Age-related macular degeneration 7 NCBI curation 610149 Feb 16 2016 5654 HTRA1 C1838577 CARASIL GeneReviews NBK32533 600142 Apr 17 2020 5654 HTRA1 C1838577 CARASIL MONDO MONDO:0010829 600142 Apr 17 2020 5654 HTRA1 C1838577 CARASIL OMIM 600142 600142 Apr 17 2020 27429 HTRA2 C1853202 Parkinson disease 13 NCBI curation 610297 Feb 16 2016 27429 HTRA2 C4310650 3-methylglutaconic aciduria, type VIII NCBI curation 617248 Jun 20 2017 3064 HTT C0020179 Huntington disease NCBI curation 143100 Apr 3 2020 3064 HTT C4479491 Lopes-Maciel-Rodan syndrome NCBI curation 617435 Nov 26 2017 10075 HUWE1 C2678046 Mental retardation, X-linked, syndromic, Turner type NCBI curation 309590 May 9 2019 3373 HYAL1 C1291490 Deficiency of hyaluronoglucosaminidase 601492 Feb 16 2016 54768 HYDIN C1837615 Ciliary dyskinesia, primary, 5 NCBI curation 608647 Feb 16 2016 219844 HYLS1 C1856016 Hydrolethalus syndrome 1 NCBI curation 236680 Feb 16 2016 57061 HYMAI C1832386 Transient neonatal diabetes mellitus 1 NCBI curation 601410 Feb 16 2016 10525 HYOU1 C1856263 Granulocytopenia with immunoglobulin abnormality NCBI curation 233600 Feb 16 2016 3376 IARS1 C4310720 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy NCBI curation 617093 Jun 20 2017 55699 IARS2 C4014942 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NCBI curation 616007 Feb 16 2016 200205 IBA57 C4225322 Spastic paraplegia 74, autosomal recessive NCBI curation 616451 Feb 16 2016 200205 IBA57 C3809165 Multiple mitochondrial dysfunctions syndrome 3 NCBI curation 615330 Feb 16 2016 3383 ICAM1 C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 3386 ICAM4 C3887952 Landsteiner-Wiener phenotype NCBI curation 111250 Feb 16 2016 29851 ICOS C3149378 Common variable immunodeficiency 1 NCBI curation 607594 Feb 16 2016 29851 ICOS C3150354 Common variable immunodeficiency 2 NCBI curation 240500 Feb 16 2016 3417 IDH1 C2750850 Glioma susceptibility 1 NCBI curation 137800 Feb 16 2016 3418 IDH2 C3150909 D-2-hydroxyglutaric aciduria 2 NCBI curation 613657 Feb 16 2016 3420 IDH3B C2675496 Retinitis pigmentosa 46 NCBI curation 612572 Feb 16 2016 3423 IDS C0026705 Mucopolysaccharidosis, MPS-II NCBI curation 309900 Feb 16 2016 3425 IDUA C0086431 Mucopolysaccharidosis, MPS-I-H/S 607015 Feb 16 2016 3425 IDUA C0086795 Hurler syndrome NCBI curation 607014 Dec 22 2019 3425 IDUA C0026708 Mucopolysaccharidosis, MPS-I-S 607016 Feb 16 2016 51124 IER3IP1 C3280240 Microcephaly, epilepsy, and diabetes syndrome NCBI curation 614231 Feb 16 2016 64135 IFIH1 C4225427 Singleton-Merten syndrome 1 NCBI curation 182250 May 2 2016 64135 IFIH1 C3888244 Aicardi-Goutieres syndrome 7 NCBI curation 615846 Apr 8 2018 10410 IFITM3 C3553462 Influenza NCBI curation 614680 Feb 16 2016 387733 IFITM5 C2931093 Osteogenesis imperfecta type 5 610967 Feb 16 2016 3455 IFNAR2 C4225252 Immunodeficiency 45 NCBI curation 616669 Feb 16 2016 3455 IFNAR2 C1864880 Hepatitis b virus, susceptibility to NCBI curation 610424 Feb 16 2016 3458 IFNG C1835407 Hepatitis c virus, susceptibility to NCBI curation 609532 Feb 16 2016 3458 IFNG C0002874 Aplastic anemia Human Phenotype Ontology HP:0001915 609135 Feb 16 2016 3458 IFNG C1860707 Tuberous sclerosis 2 NCBI curation 613254 Feb 16 2016 3458 IFNG C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 3458 IFNG C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 3459 IFNGR1 C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 3459 IFNGR1 C4014863 Immunodeficiency 27b NCBI curation 615978 Feb 16 2016 3459 IFNGR1 C1838332 Helicobacter pylori infection, susceptibility to NCBI curation 600263 Feb 16 2016 3459 IFNGR1 C1864880 Hepatitis b virus, susceptibility to NCBI curation 610424 Feb 16 2016 3459 IFNGR1 C4011949 Disseminated atypical mycobacterial infection 209950 Feb 16 2016 3460 IFNGR2 C4013947 Immunodeficiency 28 NCBI curation 614889 Feb 16 2016 282617 IFNL3 CN078000 Peginterferon alfa-2b response Feb 16 2016 282617 IFNL3 CN184129 Ribavirin response NCBI curation Feb 16 2016 282617 IFNL3 CN184128 Peginterferon alfa-2a response NCBI curation Feb 16 2016 282617 IFNL3 CN236396 Simeprevir response NCBI curation Apr 30 2016 282617 IFNL3 C1835407 Hepatitis c virus, susceptibility to NCBI curation 609532 Feb 16 2016 282617 IFNL3 CN078014 Telaprevir response Feb 16 2016 101180976 IFNL4 CN238522 Sofosbuvir response NCBI curation Sep 30 2016 55764 IFT122 C0432235 Cranioectodermal dysplasia 1 NCBI curation 218330 Feb 16 2016 9742 IFT140 C1849437 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 266920 Feb 16 2016 9742 IFT140 C4540439 Retinitis pigmentosa 80 NCBI curation 617781 Mar 8 2019 26160 IFT172 C3810175 Short-rib thoracic dysplasia 10 with or without polydactyly NCBI curation 615630 Feb 16 2016 26160 IFT172 C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 Feb 16 2016 26160 IFT172 C0687120 Nephronophthisis OMIM phenotypic series PS256100 Feb 16 2016 26160 IFT172 C4225342 Retinitis pigmentosa 71 NCBI curation 616394 Feb 16 2016 11020 IFT27 C3889475 Bardet-Biedl syndrome 19 NCBI curation 615996 Feb 16 2016 112752 IFT43 C4693420 SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY OMIM 617866 617866 Feb 7 2018 112752 IFT43 C3279807 Cranioectodermal dysplasia 3 NCBI curation 614099 Feb 16 2016 112752 IFT43 C4693443 Retinitis pigmentosa 81 NCBI curation 617871 Mar 8 2019 51098 IFT52 C4310718 Short-rib thoracic dysplasia 16 with or without polydactyly NCBI curation 617102 Jun 20 2017 55081 IFT57 C4693651 Orofaciodigital syndrome 18 MONDO MONDO:0054770 617927 Apr 17 2020 80173 IFT74 C4310707 Bardet-Biedl syndrome 20 NCBI curation 617119 Jun 20 2017 57560 IFT80 C1970005 Asphyxiating thoracic dystrophy 2 NCBI curation 611263 Feb 16 2016 28981 IFT81 C4693524 SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY OMIM 617895 617895 Mar 6 2018 3476 IGBP1 C1845446 Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia NCBI curation 300472 Feb 16 2016 3479 IGF1 C1837475 Growth delay due to insulin-like growth factor type 1 deficiency MONDO MONDO:0012110 608747 Apr 17 2020 3480 IGF1R C1849157 Growth delay due to insulin-like growth factor I resistance MONDO MONDO:0010038 270450 Apr 17 2020 3481 IGF2 C0004903 Beckwith-Wiedemann syndrome 130650 Feb 16 2016 3481 IGF2 C4225307 Growth restriction, severe, with distinctive facies NCBI curation 616489 Feb 16 2016 3481 IGF2 CN033288 Wilms tumor 1 NCBI curation 194070 Feb 16 2016 3481 IGF2 C0175693 Russell-Silver syndrome NCBI curation 180860 Feb 16 2016 10644 IGF2BP2 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 3482 IGF2R C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 3483 IGFALS C3900122 Acid-labile subunit deficiency NCBI curation 615961 Feb 16 2016 3490 IGFBP7 C3280205 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis NCBI curation 614224 Feb 16 2016 3507 IGHM C3152144 Agammaglobulinemia, non-Bruton type 601495 Feb 16 2016 3508 IGHMBP2 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation Feb 16 2016 3508 IGHMBP2 C1858517 Spinal muscular atrophy, distal, autosomal recessive, 1 NCBI curation 604320 Aug 24 2016 3508 IGHMBP2 C4015349 Charcot-Marie-Tooth disease, axonal, type 2S NCBI curation 616155 Feb 16 2016 3514 IGKC C3279824 Immunoglobulin kappa light chain deficiency NCBI curation 614102 Feb 16 2016 3543 IGLL1 C3150750 Agammaglobulinemia 2, autosomal recessive NCBI curation 613500 Feb 16 2016 3547 IGSF1 C3550963 Hypothyroidism, central, and testicular enlargement NCBI curation 300888 Feb 16 2016 3321 IGSF3 C1835612 Lacrimal duct defect NCBI curation 149700 Feb 16 2016 3549 IHH C1862151 Type A1 brachydactyly Human Phenotype Ontology HP:0009371 112500 Mar 19 2018 3549 IHH C1843096 Acrocapitofemoral dysplasia 607778 Feb 16 2016 3551 IKBKB C4747743 Immunodeficiency 15 NCBI curation 615592 Feb 16 2016 3551 IKBKB C4748694 IMMUNODEFICIENCY 15A OMIM 618204 618204 Nov 30 2018 8517 IKBKG CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 8517 IKBKG C0021171 Incontinentia pigmenti syndrome 308300 Feb 16 2016 8517 IKBKG C1846006 Ectodermal dysplasia and immunodeficiency 1 NCBI curation 300291 Feb 8 2020 8517 IKBKG C1970879 Familial atypical mycobacteriosis, type 1, X-linked NCBI curation 300636 Feb 16 2016 10320 IKZF1 C4225173 Immunodeficiency, common variable, 13 NCBI curation 616873 Sep 23 2018 3586 IL10 C0003873 Rheumatoid arthritis Human Phenotype Ontology HP:0001370 180300 Jul 22 2019 3586 IL10 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 3586 IL10 C3280677 Graft-versus-host disease, susceptibility to NCBI curation 614395 Feb 16 2016 3587 IL10RA C2751053 Inflammatory bowel disease 28, autosomal recessive NCBI curation 613148 Feb 16 2016 3588 IL10RB C2675508 Inflammatory bowel disease 25, autosomal recessive NCBI curation 612567 Feb 16 2016 3588 IL10RB C1864880 Hepatitis b virus, susceptibility to NCBI curation 610424 Feb 16 2016 3590 IL11RA C3280073 Craniosynostosis and dental anomalies NCBI curation 614188 Feb 16 2016 3593 IL12B C4013948 Immunodeficiency 29 NCBI curation 614890 Feb 16 2016 3594 IL12RB1 C4013949 Immunodeficiency 30 NCBI curation 614891 Feb 16 2016 3596 IL13 C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 3596 IL13 C2607914 Allergic rhinitis Human Phenotype Ontology HP:0003193 607154 Feb 16 2016 112744 IL17F C3151405 Candidiasis, familial, 6 NCBI curation 613956 Feb 16 2016 23765 IL17RA C4310803 Immunodeficiency 51 NCBI curation 613953 Dec 26 2017 84818 IL17RC C4225324 Candidiasis, familial, 9 NCBI curation 616445 Feb 16 2016 54756 IL17RD C3808975 Hypogonadotropic hypogonadism 18 with or without anosmia NCBI curation 615267 Feb 16 2016 54756 IL17RD C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 10068 IL18BP C5231406 HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO OMIM 618549 618549 Aug 25 2019 3553 IL1B C1708349 Hereditary diffuse gastric cancer NCBI curation 137215 Feb 16 2016 11141 IL1RAPL1 C0796227 Mental retardation 21, X-linked NCBI curation 300143 Feb 16 2016 3557 IL1RN C2748507 Osteomyelitis, sterile multifocal, with periostitis and pustulosis NCBI curation 612852 Feb 16 2016 3557 IL1RN C2675112 Microvascular complications of diabetes 4 NCBI curation 612628 Feb 16 2016 3557 IL1RN C1708349 Hereditary diffuse gastric cancer NCBI curation 137215 Feb 16 2016 59067 IL21 C4014258 Common variable immunodeficiency 11 NCBI curation 615767 Feb 16 2016 50615 IL21R C1840253 Ige responsiveness, atopic NCBI curation 147050 Feb 16 2016 50615 IL21R C3554687 IL21R immunodeficiency NCBI curation 615207 Feb 16 2016 149233 IL23R C2677091 Inflammatory bowel disease 17 NCBI curation 612261 Feb 16 2016 149233 IL23R C1854124 Psoriasis susceptibility 7 NCBI curation 605606 Feb 16 2016 3559 IL2RA C1866040 Diabetes mellitus, insulin-dependent, 10 NCBI curation 601942 Feb 16 2016 3559 IL2RA C1853392 Interleukin 2 receptor, alpha, deficiency of NCBI curation 606367 Feb 16 2016 3560 IL2RB C5193126 IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY OMIM 618495 618495 Jul 17 2019 3561 IL2RG C1279481 X-linked severe combined immunodeficiency 300400 Feb 16 2016 3561 IL2RG C1706416 Combined immunodeficiency, X-linked NCBI curation 312863 Feb 16 2016 133396 IL31RA C3151404 Amyloidosis, primary localized cutaneous, 2 NCBI curation 613955 Feb 16 2016 26525 IL36RN C0343055 Pustular psoriasis, generalized NCBI curation 614204 Feb 16 2016 3566 IL4R C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 3566 IL4R C1840253 Ige responsiveness, atopic NCBI curation 147050 Feb 16 2016 3569 IL6 C1858558 Rheumatoid arthritis, systemic juvenile NCBI curation 604302 Feb 16 2016 3569 IL6 C0011854 Diabetes mellitus type 1 NCBI curation 222100 Feb 16 2016 3569 IL6 C3538945 Kaposi sarcoma, susceptibility to NCBI curation 148000 Sep 21 2019 3569 IL6 C0917804 Cerebral arteriovenous malformation Human Phenotype Ontology HP:0002408 108010 Feb 16 2016 3569 IL6 C0678202 Inflammatory bowel disease 1 NCBI curation 266600 Feb 16 2016 3570 IL6R C3553493 Soluble interleukin-6 receptor, serum level of, quantitative trait locus NCBI curation 614689 Aug 24 2016 3570 IL6R C3540094 Interleukin 6, serum level of, quantitative trait locus NCBI curation 614752 Aug 24 2016 3572 IL6ST C5193141 HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE OMIM 618523 618523 Aug 2 2019 3574 IL7 C4749043 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM 618309 618309 Feb 3 2019 3575 IL7R C1837028 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive NCBI curation 608971 Feb 16 2016 286676 ILDR1 C1864818 Deafness, autosomal recessive 42 NCBI curation 609646 Feb 16 2016 3612 IMPA1 C4310619 Mental retardation, autosomal recessive 59 NCBI curation 617323 Jun 20 2017 3614 IMPDH1 C1840284 Leber congenital amaurosis 11 NCBI curation 613837 Feb 16 2016 3614 IMPDH1 C1867299 Retinitis pigmentosa 10 NCBI curation 180105 Feb 16 2016 3615 IMPDH2 C3888196 Impdh2 enzyme activity, variation in NCBI curation 617995 Feb 16 2016 3617 IMPG1 C4015342 Macular dystrophy, vitelliform, 4 NCBI curation 616151 Feb 16 2016 50939 IMPG2 C4015343 Macular dystrophy, vitelliform, 5 NCBI curation 616152 Feb 16 2016 50939 IMPG2 C3150819 Retinitis pigmentosa 56 NCBI curation 613581 Feb 16 2016 55765 INAVA C4748083 INFLAMMATORY BOWEL DISEASE 29 OMIM 618077 618077 Aug 8 2018 64423 INF2 C3280845 Charcot-Marie-Tooth disease, dominant intermediate E NCBI curation 614455 Feb 16 2016 64423 INF2 C2750475 Focal segmental glomerulosclerosis 5 NCBI curation 613237 Feb 16 2016 3621 ING1 C1168401 Squamous cell carcinoma of the head and neck NCBI curation 275355 Feb 16 2016 56623 INPP5E C1857802 MORM syndrome 610156 Feb 16 2016 56623 INPP5E C4551568 Joubert syndrome 1 NCBI curation 213300 Feb 16 2016 51763 INPP5K C4479410 Muscular dystrophy, congenital, with cataracts and intellectual disability NCBI curation 617404 Jun 20 2017 3636 INPPL1 C0432219 Opsismodysplasia 258480 Feb 16 2016 3630 INS C1852092 Diabetes mellitus, insulin-dependent, 2 NCBI curation 125852 Feb 16 2016 3630 INS C0342283 Hyperproinsulinemia NCBI curation 616214 Feb 16 2016 3630 INS C3150617 Maturity-onset diabetes of the young, type 10 NCBI curation 613370 Feb 16 2016 3630 INS CN280870 DIABETES MELLITUS, PERMANENT NEONATAL 4 OMIM 618858 618858 May 2 2020 3630 INS C1833104 Permanent neonatal diabetes mellitus MONDO MONDO:0011643 606176 May 27 2020 3640 INSL3 C0010417 Cryptorchidism Human Phenotype Ontology HP:0000028 219050 Apr 4 2018 3643 INSR C0342278 Insulin-resistant diabetes mellitus AND acanthosis nigricans 610549 Feb 16 2016 3643 INSR C1864952 Hyperinsulinemic hypoglycemia familial 5 NCBI curation 609968 Feb 16 2016 3643 INSR C0271695 Pineal hyperplasia AND diabetes mellitus syndrome 262190 Feb 16 2016 3643 INSR C0265344 Leprechaunism syndrome 246200 Feb 16 2016 26173 INTS1 C5231414 NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES OMIM 618571 618571 Sep 15 2019 55656 INTS8 C5231415 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY OMIM 618572 618572 Sep 15 2019 27152 INTU C4693616 SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY OMIM 617925 617925 Apr 1 2018 27152 INTU C4693640 Orofaciodigital syndrome 17 MONDO MONDO:0033375 617926 Apr 17 2020 27130 INVS C1865872 Infantile nephronophthisis 602088 Feb 16 2016 3653 IPW C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 9657 IQCB1 C1836517 Senior-Loken syndrome 5 NCBI curation 609254 Feb 16 2016 23288 IQCE C4539976 POLYDACTYLY, POSTAXIAL, TYPE A7 OMIM 617642 617642 Aug 26 2017 9922 IQSEC1 C5231462 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES OMIM 618687 618687 Dec 6 2019 23096 IQSEC2 C2931498 Mental retardation, X-linked 1 NCBI curation 309530 May 20 2016 11213 IRAK3 C1970224 Asthma-related traits, susceptibility to, 5 NCBI curation 611064 Aug 24 2016 51135 IRAK4 C1843256 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency MONDO MONDO:0011888 607676 Apr 17 2020 3658 IREB2 C5193104 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA OMIM 618451 618451 May 31 2019 3659 IRF1 C0038356 Neoplasm of stomach NCBI curation 613659 Feb 16 2016 3659 IRF1 C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 359948 IRF2BP2 C4540380 IMMUNODEFICIENCY, COMMON VARIABLE, 14 OMIM 617765 617765 Nov 15 2017 64207 IRF2BPL C4748127 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES OMIM 618088 618088 Aug 19 2018 3661 IRF3 C4225294 Herpes simplex encephalitis, susceptibility to, 7 NCBI curation 616532 Feb 16 2016 3662 IRF4 C2673265 Skin/hair/eye pigmentation, variation in, 8 NCBI curation 611724 Feb 16 2016 3663 IRF5 C2677100 Inflammatory bowel disease 14 NCBI curation 612245 Feb 16 2016 3663 IRF5 C2677097 Systemic lupus erythematosus 10 NCBI curation 612251 Feb 16 2016 3664 IRF6 C1837213 Orofacial cleft 6, susceptibility to NCBI curation 608864 Feb 16 2016 3664 IRF6 C0265259 Popliteal pterygium syndrome 119500 Feb 16 2016 3664 IRF6 C4551864 Van der Woude syndrome 119300 Feb 16 2016 3665 IRF7 C4225358 Immunodeficiency 39 NCBI curation 616345 Feb 16 2016 3394 IRF8 C3808589 Immunodeficiency 32a NCBI curation 614893 Aug 24 2016 3394 IRF8 C4016741 Immunodeficiency 32b NCBI curation 226990 Jun 10 2018 10379 IRF9 C5231441 IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS OMIM 618648 618648 Nov 1 2019 345611 IRGM C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 345611 IRGM C2677079 Inflammatory bowel disease 19 NCBI curation 612278 Feb 16 2016 3667 IRS1 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 8660 IRS2 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 8471 IRS4 C5231396 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 OMIM 301035 301035 Sep 28 2019 10265 IRX5 C1970027 Hamamy syndrome NCBI curation 611174 Aug 24 2016 81689 ISCA1 C4539919 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM 617613 617613 Aug 12 2017 122961 ISCA2 C4225348 Multiple mitochondrial dysfunctions syndrome 4 NCBI curation 616370 Feb 16 2016 23479 ISCU C1850718 Myopathy with lactic acidosis, hereditary NCBI curation 255125 Feb 16 2016 9636 ISG15 C4015293 Immunodeficiency 38 with basal ganglia calcification NCBI curation 616126 Aug 24 2016 83737 ITCH C3150649 Autoimmune disease, syndromic multisystem NCBI curation 613385 Feb 16 2016 3674 ITGA2B C1861195 Platelet-type bleeding disorder 16 NCBI curation 187800 May 20 2016 3674 ITGA2B C0040015 Glanzmann thrombasthenia NCBI curation 273800 Jan 13 2017 3675 ITGA3 C3553636 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital NCBI curation 614748 Feb 16 2016 3655 ITGA6 C1856934 Epidermolysis bullosa junctionalis with pyloric atresia NCBI curation 226730 Feb 28 2017 3679 ITGA7 C2750786 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency NCBI curation 613204 Feb 16 2016 8516 ITGA8 C1619700 Renal hypodysplasia/aplasia 1 NCBI curation 191830 Jan 20 2020 3689 ITGB2 C0398738 Leukocyte adhesion deficiency 1 MONDO MONDO:0007293 116920 Apr 22 2020 3690 ITGB3 C0040015 Glanzmann thrombasthenia NCBI curation 273800 Jan 13 2017 3690 ITGB3 C1861195 Platelet-type bleeding disorder 16 NCBI curation 187800 May 20 2016 3690 ITGB3 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 3691 ITGB4 C0080333 Localized epidermolysis bullosa simplex MONDO MONDO:0007551 131800 Apr 22 2020 3691 ITGB4 C0268374 Junctional epidermolysis bullosa, non-Herlitz type MONDO MONDO:0009180 226650 May 13 2020 3691 ITGB4 C1856934 Epidermolysis bullosa junctionalis with pyloric atresia NCBI curation 226730 Feb 28 2017 3694 ITGB6 C4015557 Amelogenesis imperfecta, type IH NCBI curation 616221 Feb 16 2016 3702 ITK C3552634 Lymphoproliferative syndrome 1 NCBI curation 613011 Feb 16 2016 9445 ITM2B C1867773 ABri amyloidosis MONDO MONDO:0008306 176500 Apr 17 2020 9445 ITM2B C4015146 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities NCBI curation 616079 Feb 16 2016 9445 ITM2B C1861735 ADan amyloidosis MONDO MONDO:0007297 117300 Apr 17 2020 3704 ITPA C0342800 Inosine triphosphatase deficiency NCBI curation 613850 Feb 16 2016 3704 ITPA C4225256 Epileptic encephalopathy, early infantile, 35 NCBI curation 616647 Feb 16 2016 3708 ITPR1 C1847725 Spinocerebellar ataxia type 16 MONDO MONDO:0000561 606658 Apr 22 2020 3708 ITPR1 C1861732 Spinocerebellar ataxia type 29 MONDO MONDO:0007298 117360 Apr 22 2020 3708 ITPR1 C0431401 Gillespie syndrome NCBI curation 206700 Sep 6 2017 3709 ITPR2 C1862871 Anhidrosis, isolated, with normal sweat glands NCBI curation 106190 Aug 24 2016 3710 ITPR3 C0011854 Diabetes mellitus type 1 NCBI curation 222100 Feb 16 2016 3712 IVD C0268575 Isovaleryl-CoA dehydrogenase deficiency 243500 Feb 16 2016 389434 IYD C0342195 Iodotyrosine deiodination defect 274800 Feb 16 2016 182 JAG1 C0039685 Tetralogy of Fallot Human Phenotype Ontology HP:0001636 187500 Feb 16 2016 182 JAG1 C1866053 Deafness, congenital heart defects, and posterior embryotoxon NCBI curation 617992 Feb 16 2016 182 JAG1 C1956125 Alagille syndrome 1 NCBI curation 118450 Feb 16 2016 84522 JAGN1 C4014954 Severe congenital neutropenia 6, autosomal recessive NCBI curation 616022 Feb 16 2016 3717 JAK2 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 3717 JAK2 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 3717 JAK2 C0001815 Myelofibrosis Human Phenotype Ontology HP:0011974 254450 Feb 16 2016 3717 JAK2 C3281125 Thrombocythemia 3 NCBI curation 614521 Feb 16 2016 3717 JAK2 C4551637 Primary familial polycythemia due to EPO receptor mutation MONDO MONDO:0007572 133100 Apr 17 2020 3717 JAK2 C0856761 Budd-Chiari syndrome Human Phenotype Ontology HP:0002639 600880 Feb 16 2016 3717 JAK2 C0032463 Polycythemia vera NCBI curation 263300 Feb 16 2016 3718 JAK3 C1833275 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative NCBI curation 600802 Feb 16 2016 58494 JAM2 CN263397 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE OMIM 618824 618824 Mar 29 2020 83700 JAM3 C3151000 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts NCBI curation 613730 Feb 16 2016 56704 JPH1 C1842983 Charcot-Marie-Tooth disease type 2K 607831 Feb 16 2016 57158 JPH2 C3151264 Familial hypertrophic cardiomyopathy 17 NCBI curation 613873 Feb 16 2016 57338 JPH3 C1847987 Huntington disease-like 2 NCBI curation 606438 Feb 16 2016 3728 JUP C1832600 Naxos disease 601214 Feb 16 2016 3728 JUP C1969081 Arrhythmogenic right ventricular cardiomyopathy, type 12 NCBI curation 611528 Feb 16 2016 23189 KANK1 C2752061 Cerebral palsy, spastic quadriplegic, 2 NCBI curation 612900 Feb 16 2016 25959 KANK2 C4540453 Nephrotic syndrome type 16 NCBI curation 617783 Jul 24 2018 25959 KANK2 C4015202 Palmoplantar keratoderma and woolly hair NCBI curation 616099 Feb 16 2016 284058 KANSL1 C1864871 Koolen-de Vries syndrome NCBI curation 610443 Feb 16 2016 3735 KARS1 C3151351 Deafness, autosomal recessive 89 NCBI curation 613916 Feb 16 2016 3735 KARS1 C3150897 Charcot-Marie-Tooth disease, recessive intermediate B NCBI curation 613641 Feb 16 2016 7994 KAT6A C4225396 Mental retardation, autosomal dominant 32 NCBI curation 616268 Feb 16 2016 23522 KAT6B C1853566 Genitopatellar syndrome NCBI curation 606170 Feb 16 2016 23522 KAT6B C1863557 Blepharophimosis - intellectual disability syndrome, SBBYS type MONDO MONDO:0011365 603736 Apr 17 2020 10300 KATNB1 C4015525 Lissencephaly 6, with microcephaly NCBI curation 616212 Feb 16 2016 23247 KATNIP C4084843 Joubert syndrome 26 NCBI curation 616784 Feb 16 2016 390594 KBTBD13 C1836472 Nemaline myopathy 6 609273 Feb 16 2016 3736 KCNA1 C1719788 Episodic ataxia type 1 160120 Feb 16 2016 3737 KCNA2 C4225350 Epileptic encephalopathy, early infantile, 32 NCBI curation 616366 Feb 16 2016 3739 KCNA4 C4748984 MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM OMIM 618284 618284 Jan 18 2019 3741 KCNA5 C2677106 Atrial fibrillation, familial, 7 NCBI curation 612240 Feb 16 2016 3745 KCNB1 C4015119 Epileptic encephalopathy, early infantile, 26 NCBI curation 616056 Feb 16 2016 3746 KCNC1 C4015420 Epilepsy, progressive myoclonic 7 NCBI curation 616187 Feb 16 2016 3748 KCNC3 C1854488 Spinocerebellar ataxia type 13 MONDO MONDO:0011529 605259 Apr 22 2020 3752 KCND3 C4225340 Brugada syndrome 9 NCBI curation 616399 Feb 16 2016 3752 KCND3 C1846367 Spinocerebellar ataxia type 19/22 MONDO MONDO:0011819 607346 Apr 17 2020 3753 KCNE1 C2676723 Jervell and Lange-Nielsen syndrome 2 612347 Feb 16 2016 3753 KCNE1 C1867904 Long QT syndrome 5 613695 Feb 16 2016 9992 KCNE2 C3150953 Long QT syndrome 6 613693 Feb 16 2016 9992 KCNE2 C1862394 Atrial fibrillation, familial, 4 NCBI curation 611493 Feb 16 2016 10008 KCNE3 C2751089 Brugada syndrome 6 NCBI curation 613119 Feb 16 2016 3756 KCNH1 C2678486 Temple-Baraitser syndrome NCBI curation 611816 Feb 16 2016 3756 KCNH1 C4551773 Zimmermann-Laband syndrome 1 NCBI curation 135500 Feb 16 2016 3757 KCNH2 C3150943 Long QT syndrome 2 613688 Feb 16 2016 3757 KCNH2 C1865020 Short QT syndrome 1 NCBI curation 609620 Feb 16 2016 3758 KCNJ1 C1855849 Bartter syndrome, type 2, antenatal NCBI curation 241200 Oct 21 2017 3766 KCNJ10 C3538946 Enlarged vestibular aqueduct Human Phenotype Ontology HP:0011387 600791 Mar 19 2018 3766 KCNJ10 C0271829 Pendred syndrome NCBI curation 274600 Oct 15 2018 3766 KCNJ10 C2748572 EAST syndrome MONDO MONDO:0013005 612780 Apr 22 2020 3767 KCNJ11 C2931833 Islet cell hyperplasia 601820 Feb 16 2016 3767 KCNJ11 C1864623 Transient neonatal diabetes mellitus 3 NCBI curation 610582 Feb 16 2016 3767 KCNJ11 C1833104 Permanent neonatal diabetes mellitus MONDO MONDO:0011643 606176 May 27 2020 3767 KCNJ11 C4225365 Maturity-onset diabetes of the young, type 13 NCBI curation 616329 Feb 16 2016 3767 KCNJ11 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 3767 KCNJ11 CN280868 DIABETES MELLITUS, PERMANENT NEONATAL 2 OMIM 618856 618856 May 2 2020 3769 KCNJ13 C3280062 Leber congenital amaurosis 16 NCBI curation 614186 Feb 16 2016 3769 KCNJ13 C1860405 Snowflake vitreoretinal degeneration Human Phenotype Ontology HP:0011533 193230 Feb 16 2016 100134444 KCNJ18 C2750473 Thyrotoxic periodic paralysis 2 NCBI curation 613239 Feb 16 2016 3759 KCNJ2 C3151431 Atrial fibrillation, familial, 9 NCBI curation 613980 Feb 16 2016 3759 KCNJ2 C1563715 Andersen Tawil syndrome 170390 Feb 16 2016 3759 KCNJ2 C1865018 Short QT syndrome 3 NCBI curation 609622 Feb 16 2016 3762 KCNJ5 C3150733 Long QT syndrome 13 NCBI curation 613485 Feb 16 2016 3762 KCNJ5 C3150933 Familial hyperaldosteronism type 3 NCBI curation 613677 Feb 16 2016 3763 KCNJ6 C3279800 Keppen-Lubinsky syndrome NCBI curation 614098 Feb 16 2016 338567 KCNK18 C3150908 Migraine, with or without aura 13 NCBI curation 613656 Feb 16 2016 3777 KCNK3 C3809198 Primary pulmonary hypertension 4 NCBI curation 615344 Feb 16 2016 50801 KCNK4 C5193066 FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME OMIM 618381 618381 Apr 14 2019 51305 KCNK9 C2676770 Birk-Barel syndrome MONDO MONDO:0012856 612292 Apr 17 2020 3778 KCNMA1 C5231479 LIANG-WANG SYNDROME OMIM 618729 618729 Jan 12 2020 3778 KCNMA1 C4539985 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES OMIM 617643 617643 Aug 31 2017 3778 KCNMA1 C1836173 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy NCBI curation 609446 Mar 30 2020 3778 KCNMA1 C5231421 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16 OMIM 618596 618596 Sep 28 2019 3779 KCNMB1 C1837739 Hypertension, diastolic, resistance to NCBI curation 608622 Feb 16 2016 3782 KCNN3 C5231447 ZIMMERMANN-LABAND SYNDROME 3 OMIM 618658 618658 Nov 14 2019 3783 KCNN4 C4225242 Dehydrated hereditary stomatocytosis 2 NCBI curation 616689 Feb 16 2016 3784 KCNQ1 C4551647 Long QT syndrome 1 NCBI curation 192500 Feb 16 2016 3784 KCNQ1 C4551647 Long QT syndrome 1 NCBI curation 192500 Feb 16 2016 3784 KCNQ1 C0004903 Beckwith-Wiedemann syndrome 130650 Feb 16 2016 3784 KCNQ1 C1865019 Short QT syndrome 2 NCBI curation 609621 Feb 16 2016 3784 KCNQ1 C1837014 Atrial fibrillation, familial, 3 NCBI curation 607554 Feb 16 2016 3784 KCNQ1 C4551509 Jervell and Lange-Nielsen syndrome 1 NCBI curation 220400 Feb 16 2016 10984 KCNQ1OT1 C0004903 Beckwith-Wiedemann syndrome 130650 Feb 16 2016 3785 KCNQ2 C3150986 Early infantile epileptic encephalopathy 7 NCBI curation 613720 Feb 16 2016 3785 KCNQ2 C3149074 Benign familial neonatal seizures 1 NCBI curation 121200 Feb 16 2016 3786 KCNQ3 C1852581 Benign familial neonatal seizures 2 NCBI curation 121201 Feb 16 2016 9132 KCNQ4 C2677637 Autosomal dominant nonsyndromic deafness 2A MONDO MONDO:0010817 600101 Apr 17 2020 56479 KCNQ5 C4539851 Intellectual disability, autosomal dominant 46 MONDO MONDO:0030911 617601 Apr 17 2020 57582 KCNT1 C3554306 Epilepsy, nocturnal frontal lobe, 5 NCBI curation 615005 Feb 16 2016 57582 KCNT1 C3554195 Early infantile epileptic encephalopathy 14 NCBI curation 614959 Feb 16 2016 343450 KCNT2 C4540411 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 OMIM 617771 617771 Nov 22 2017 169522 KCNV2 C1835897 Cone dystrophy with supernormal rod response MONDO MONDO:0012475 610356 Apr 17 2020 284252 KCTD1 C1867020 Scalp-ear-nipple syndrome MONDO MONDO:0008404 181270 Apr 22 2020 79734 KCTD17 C4225341 Dystonia 26, myoclonic NCBI curation 616398 Feb 16 2016 154881 KCTD7 C2673257 Epilepsy, progressive myoclonic 3 NCBI curation 611726 Feb 16 2016 126695 KDF1 C4310616 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type NCBI curation 617337 Jun 20 2017 23028 KDM1A C4225229 Cleft palate, psychomotor retardation, and distinctive facial features NCBI curation 616728 Feb 16 2016 51780 KDM3B CN272931 DIETS-JONGMANS SYNDROME OMIM 618846 618846 Apr 16 2020 10765 KDM5B C4748219 Intellectual disability, autosomal recessive 65 MONDO MONDO:0020850 618109 Apr 17 2020 8242 KDM5C C1845243 Mental retardation, syndromic, Claes-Jensen type, X-linked NCBI curation 300534 Feb 16 2016 8284 KDM5D C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 7403 KDM6A C3275495 Kabuki syndrome 2 NCBI curation 300867 Feb 16 2016 7403 KDM6A CN030661 Kabuki syndrome 1 NCBI curation 147920 Dec 26 2016 23135 KDM6B C5193134 NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES OMIM 618505 618505 Jul 21 2019 3791 KDR C1865871 Hemangioma, capillary infantile NCBI curation 602089 Feb 16 2016 2531 KDSR C4479620 Erythrokeratodermia variabilis et progressiva 4 NCBI curation 617526 Jun 20 2017 3792 KEL C0022546 Kell blood group system NCBI curation 110900 Feb 16 2016 11081 KERA C1857574 Cornea plana 2 NCBI curation 217300 Feb 16 2016 154288 KHDC3L C3280352 Hydatidiform mole, recurrent, 2 NCBI curation 614293 Feb 16 2016 3795 KHK C0268160 Fructosuria, essential NCBI curation 229800 Feb 16 2016 9786 KIAA0586 C4225286 Short-rib thoracic dysplasia 14 with polydactyly NCBI curation 616546 Feb 16 2016 9786 KIAA0586 C4084822 Joubert syndrome 23 NCBI curation 616490 Feb 16 2016 9851 KIAA0753 C4310701 Orofaciodigital syndrome XV NCBI curation 617127 Jun 20 2017 285600 KIAA0825 C5193129 POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM 618498 618498 Jul 11 2019 84162 KIAA1109 C4693347 ALKURAYA-KUCINSKAS SYNDROME OMIM 617822 617822 Jan 13 2018 57670 KIAA1549 C5231428 RETINITIS PIGMENTOSA 86 OMIM 618613 618613 Oct 5 2019 57498 KIDINS220 C4284592 Spastic paraplegia, intellectual disability, nystagmus, and obesity NCBI curation 617296 Jun 20 2017 3832 KIF11 C1835265 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation NCBI curation 152950 Feb 16 2016 9928 KIF14 C4015701 Meckel syndrome 12 NCBI curation 616258 Feb 16 2016 9928 KIF14 C4693572 MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE OMIM 617914 617914 Mar 30 2018 547 KIF1A C1835896 Spastic paraplegia 30, autosomal recessive NCBI curation 610357 Feb 16 2016 547 KIF1A C2752089 Hereditary sensory and autonomic neuropathy type IIA NCBI curation 201300 Feb 16 2016 547 KIF1A C3280168 Hereditary sensory and autonomic neuropathy type IIC NCBI curation 614213 Feb 16 2016 547 KIF1A C3280283 Intellectual disability, autosomal dominant 9 MONDO MONDO:0013656 614255 Jun 20 2020 547 KIF1A C3280283 Intellectual disability, autosomal dominant 9 MONDO MONDO:0013656 614255 Jun 20 2020 23095 KIF1B C0031511 Pheochromocytoma Human Phenotype Ontology HP:0002666 171300 Feb 16 2016 23095 KIF1B C0027819 Neuroblastoma Human Phenotype Ontology HP:0003006 256700 Feb 16 2016 23095 KIF1B C1861678 Charcot-Marie-Tooth disease, type 2A1 NCBI curation 118210 Feb 16 2016 10749 KIF1C C1969796 Ataxia, spastic, 2, autosomal recessive NCBI curation 611302 Feb 16 2016 55605 KIF21A C1851102 Fibrosis of extraocular muscles, congenital, 1 NCBI curation 135700 Feb 16 2016 3835 KIF22 C1863732 Spondyloepimetaphyseal dysplasia with joint laxity, type 2 NCBI curation 603546 Feb 6 2020 3796 KIF2A C3809414 Cortical dysplasia, complex, with other brain malformations 3 NCBI curation 615411 Feb 16 2016 24137 KIF4A C3890167 Mental retardation, X-linked 100 NCBI curation 300923 Feb 16 2016 3798 KIF5A C1858712 Hereditary spastic paraplegia 10 MONDO MONDO:0011408 604187 Apr 17 2020 3798 KIF5A C4693609 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 OMIM 617921 617921 Mar 30 2018 3798 KIF5A C4310658 Myoclonus, intractable, neonatal NCBI curation 617235 Jun 20 2017 3800 KIF5C C3809013 Cortical dysplasia, complex, with other brain malformations 2 NCBI curation 615282 Feb 16 2016 374654 KIF7 C3279899 Hydrolethalus syndrome 2 NCBI curation 614120 Feb 16 2016 374654 KIF7 C0796147 Acrocallosal syndrome MONDO MONDO:0008708 200990 Apr 22 2020 374654 KIF7 C1846722 Macrocephaly with multiple epiphyseal dysplasia and distinctive facies NCBI curation 607131 Feb 16 2016 26128 KIFBP C1836123 Goldberg-Shprintzen megacolon syndrome 609460 Feb 16 2016 3811 KIR3DL1 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 3814 KISS1 C3541462 Hypogonadotropic hypogonadism 13 with or without anosmia NCBI curation 614842 Feb 16 2016 84634 KISS1R C3805879 Precocious puberty, central, 1 NCBI curation 176400 Jan 19 2020 84634 KISS1R C3553841 Hypogonadotropic hypogonadism 8 with or without anosmia NCBI curation 614837 Feb 16 2016 3815 KIT C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 3815 KIT C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 3815 KIT C0238198 Gastrointestinal stromal tumor MONDO MONDO:0011719 606764 Apr 17 2020 3815 KIT C0238198 Gastrointestinal stromal tumor Human Phenotype Ontology HP:0100723 606764 Apr 17 2020 3815 KIT C0080024 Partial albinism Human Phenotype Ontology HP:0007443 172800 Feb 16 2016 3815 KIT C0153594 Malignant tumor of testis NCBI curation 273300 Feb 16 2016 3815 KIT C0024899 Mastocytosis Human Phenotype Ontology HP:0100495 154800 Feb 16 2016 4254 KITLG C4225241 Deafness, autosomal dominant 69 NCBI curation 616697 Aug 24 2016 4254 KITLG C2674081 Skin/hair/eye pigmentation, variation in, 7 NCBI curation 611664 Feb 16 2016 4254 KITLG C1840392 Familial progressive hyperpigmentation with or without hypopigmentation NCBI curation 145250 Feb 16 2016 55857 KIZ C4014312 Retinitis pigmentosa 69 NCBI curation 615780 Feb 16 2016 9365 KL C4693864 Hyperphosphatemic familial tumoral calcinosis 3 NCBI curation 617994 Oct 19 2018 64837 KLC2 C1836010 Spastic paraplegia, optic atrophy, and neuropathy NCBI curation 609541 Feb 16 2016 10661 KLF1 C1292231 BLOOD GROUP--LUTHERAN INHIBITOR OMIM 111150 111150 Feb 16 2016 10661 KLF1 C3150805 Fetal hemoglobin quantitative trait locus 6 NCBI curation 613566 Feb 16 2016 10661 KLF1 C3150926 Congenital dyserythropoietic anemia, type IV NCBI curation 613673 May 25 2016 8462 KLF11 C1864839 Maturity-onset diabetes of the young type 7 MONDO MONDO:0012513 610508 Apr 22 2020 51621 KLF13 C2677613 Chromosome 15q13.3 microdeletion syndrome MONDO MONDO:0012774 612001 Apr 22 2020 1316 KLF6 C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 1316 KLF6 C0038356 Neoplasm of stomach NCBI curation 613659 Feb 16 2016 200942 KLHDC8B C0019829 Hodgkin lymphoma Human Phenotype Ontology HP:0012189 236000 Feb 16 2016 317719 KLHL10 C3554453 Spermatogenic failure 11 NCBI curation 615081 Oct 16 2016 80311 KLHL15 C4310818 Mental retardation, X-linked 103 NCBI curation 300982 Jun 20 2017 54800 KLHL24 C4310631 Epidermolysis bullosa simplex, generalized, with scarring and hair loss NCBI curation 617294 Jun 20 2017 26249 KLHL3 C3469605 Pseudohypoaldosteronism type 2D NCBI curation 614495 Feb 16 2016 131377 KLHL40 C3809209 Nemaline myopathy 8 NCBI curation 615348 Feb 16 2016 10324 KLHL41 C3810384 Nemaline myopathy 9 NCBI curation 615731 Feb 16 2016 55975 KLHL7 C4310742 PERCHING syndrome NCBI curation 617055 Jan 11 2020 55975 KLHL7 C2751986 Retinitis pigmentosa 42 NCBI curation 612943 Feb 16 2016 3816 KLK1 C1835808 Kallikrein, decreased urinary activity of NCBI curation 615953 Feb 16 2016 9622 KLK4 C2673922 Amelogenesis imperfecta, hypomaturation type, IIA1 NCBI curation 204700 Feb 16 2016 3818 KLKB1 C0272339 Prekallikrein deficiency 612423 Feb 16 2016 100144748 KLLN C3554517 Cowden syndrome 4 NCBI curation 615107 Feb 16 2016 4297 KMT2A C1854630 Wiedemann-Steiner syndrome NCBI curation 605130 Feb 16 2016 9757 KMT2B C4310633 Dystonia 28, childhood-onset NCBI curation 617284 Jun 20 2017 58508 KMT2C C4540395 Kleefstra syndrome 2 NCBI curation 617768 Jan 2 2020 8085 KMT2D CN030661 Kabuki syndrome 1 NCBI curation 147920 Dec 26 2016 55904 KMT2E C5193138 O''''DONNELL-LURIA-RODAN SYNDROME OMIM 618512 618512 Jul 27 2019 51111 KMT5B C4540474 Intellectual disability, autosomal dominant 51 MONDO MONDO:0030917 617788 Apr 17 2020 3827 KNG1 C0272340 High molecular weight kininogen deficiency 228960 Feb 16 2016 57082 KNL1 C1858516 Primary autosomal recessive microcephaly 4 NCBI curation 604321 Feb 16 2016 11133 KPTN C3810225 Mental retardation, autosomal recessive 41 NCBI curation 615637 Feb 16 2016 3845 KRAS C0917804 Cerebral arteriovenous malformation Human Phenotype Ontology HP:0002408 108010 Feb 16 2016 3845 KRAS C0005684 Urinary bladder cancer MONDO MONDO:0001187 109800 May 6 2020 3845 KRAS C2674723 RAS-associated autoimmune leukoproliferative disorder NCBI curation 614470 Feb 16 2016 3845 KRAS C0235974 Carcinoma of pancreas NCBI curation 260350 Feb 16 2016 3845 KRAS C0265318 Epidermal nevus syndrome NCBI curation 163200 Feb 16 2016 3845 KRAS C1708349 Hereditary diffuse gastric cancer NCBI curation 137215 Feb 16 2016 3845 KRAS C1860991 Noonan syndrome 3 NCBI curation 609942 Feb 16 2016 3845 KRAS C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 3845 KRAS C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 3845 KRAS C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 3845 KRAS C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 3845 KRAS C3809005 Cardiofaciocutaneous syndrome 2 NCBI curation 615278 Feb 16 2016 3845 KRAS C1838329 Toriello-Lacassie-Droste syndrome MONDO MONDO:0010854 600268 Apr 22 2020 83999 KREMEN1 C4479322 Ectodermal dysplasia 13, hair/tooth type NCBI curation 617392 Jun 20 2017 889 KRIT1 C1366911 Cerebral cavernous malformations 1 NCBI curation Feb 16 2016 889 KRIT1 C2919945 Cerebral cavernous malformation 116860 Feb 16 2016 3848 KRT1 C1721006 Epidermolytic palmoplantar keratoderma MONDO MONDO:0007758 144200 Apr 17 2020 3848 KRT1 C1833030 Nonepidermolytic palmoplantar keratoderma Human Phenotype Ontology HP:0007404 600962 Apr 4 2018 3848 KRT1 C1840296 Ichthyosis hystrix of Curth-Macklin MONDO MONDO:0007808 146590 Apr 17 2020 3848 KRT1 C1843463 Ichthyosis, cyclic, with epidermolytic hyperkeratosis NCBI curation 607602 Feb 16 2016 3848 KRT1 C2931123 Keratosis palmoplantaris striata 3 607654 Feb 16 2016 3848 KRT1 C0079153 Bullous ichthyosiform erythroderma 113800 Feb 16 2016 3858 KRT10 C0079153 Bullous ichthyosiform erythroderma 113800 Feb 16 2016 3858 KRT10 C1843463 Ichthyosis, cyclic, with epidermolytic hyperkeratosis NCBI curation 607602 Feb 16 2016 3858 KRT10 C3665704 Erythroderma, ichthyosiform, congenital reticular NCBI curation 609165 Feb 16 2016 3859 KRT12 C5231499 Meesmann corneal dystrophy 1 NCBI curation 122100 Feb 21 2020 3860 KRT13 C4014321 White sponge nevus 2 NCBI curation 615785 Feb 16 2016 3861 KRT14 C0343111 Naegeli-Franceschetti-Jadassohn syndrome 161000 Feb 16 2016 3861 KRT14 C0079295 Epidermolysis bullosa simplex Dowling-Meara type MONDO MONDO:0007550 131760 Apr 22 2020 3861 KRT14 C3715082 Epidermolysis bullosa simplex, autosomal recessive NCBI curation 601001 Feb 16 2016 3861 KRT14 C0080333 Localized epidermolysis bullosa simplex MONDO MONDO:0007551 131800 Apr 22 2020 3861 KRT14 C0406778 Dermatopathia pigmentosa reticularis 125595 Feb 16 2016 3861 KRT14 C0079299 Epidermolysis bullosa simplex, Koebner type NCBI curation 131900 Feb 16 2016 3868 KRT16 C4552049 Palmoplantar keratoderma, nonepidermolytic, focal NCBI curation 613000 Feb 16 2016 3868 KRT16 C1706595 Pachyonychia congenita 1 NCBI curation 167200 Feb 4 2018 3872 KRT17 C1721007 Pachyonychia congenita 2 NCBI curation 167210 Feb 4 2018 3872 KRT17 C0259771 Steatocystoma multiplex Human Phenotype Ontology HP:0012035 184500 Feb 16 2016 3875 KRT18 C1861556 Familial cirrhosis NCBI curation 215600 Feb 16 2016 3875 KRT18 C1861556 Familial cirrhosis NCBI curation 118900 Feb 16 2016 3849 KRT2 C0432306 Ichthyosis bullosa of Siemens 146800 Feb 16 2016 147183 KRT25 C4225214 Autosomal recessive woolly hair 3 NCBI curation 616760 Feb 16 2016 3850 KRT3 C5231495 Meesmann corneal dystrophy 2 NCBI curation 618767 Feb 22 2020 3851 KRT4 C4011926 White sponge nevus 1 MONDO MONDO:0008676 193900 Apr 22 2020 3852 KRT5 C0080333 Localized epidermolysis bullosa simplex MONDO MONDO:0007551 131800 Apr 22 2020 3852 KRT5 C0432316 Epidermolysis bullosa simplex with mottled pigmentation 131960 Feb 16 2016 3852 KRT5 C0079299 Epidermolysis bullosa simplex, Koebner type NCBI curation 131900 Feb 16 2016 3852 KRT5 C4552092 Dowling-Degos disease 1 NCBI curation 179850 Feb 16 2016 3852 KRT5 C1836284 Epidermolysis bullosa simplex with migratory circinate erythema NCBI curation 609352 Feb 16 2016 3852 KRT5 C3715082 Epidermolysis bullosa simplex, autosomal recessive NCBI curation 601001 Feb 16 2016 3852 KRT5 C0079295 Epidermolysis bullosa simplex Dowling-Meara type MONDO MONDO:0007550 131760 Apr 22 2020 3853 KRT6A C3714948 Pachyonychia congenita 3 NCBI curation 615726 Feb 4 2018 3854 KRT6B C3714949 Pachyonychia congenita 4 NCBI curation 615728 Feb 16 2016 286887 KRT6C C3810394 Palmoplantar keratoderma, nonepidermolytic, focal or diffuse NCBI curation 615735 Feb 16 2016 112802 KRT71 C4014616 Hypotrichosis 13 NCBI curation 615896 Feb 16 2016 121391 KRT74 C3151432 Hypotrichosis 3 NCBI curation 613981 Feb 16 2016 121391 KRT74 C3554117 Ectodermal dysplasia 7, hair/nail type NCBI curation 614929 Feb 16 2016 121391 KRT74 C1860238 Woolly hair, autosomal dominant NCBI curation 194300 Feb 16 2016 9119 KRT75 C0549150 Pseudofolliculitis barbae 612318 Feb 16 2016 3856 KRT8 C1861556 Familial cirrhosis NCBI curation 118900 Feb 16 2016 3856 KRT8 C1861556 Familial cirrhosis NCBI curation 215600 Feb 16 2016 3887 KRT81 C0546966 Beaded hair 158000 Feb 16 2016 3889 KRT83 C0546966 Beaded hair 158000 Feb 16 2016 3889 KRT83 C4540331 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 OMIM 617756 617756 Nov 4 2017 3891 KRT85 C1865951 Ectodermal dysplasia, 'pure' hair-nail type NCBI curation 602032 Feb 16 2016 3892 KRT86 C0546966 Beaded hair 158000 Feb 16 2016 3857 KRT9 C1721006 Epidermolytic palmoplantar keratoderma MONDO MONDO:0007758 144200 Apr 17 2020 339855 KY C4310711 Myopathy, myofibrillar, 7 NCBI curation 617114 Jun 20 2017 8942 KYNU C4540014 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 OMIM 617661 617661 Sep 23 2017 8942 KYNU C0268474 Hydroxykynureninuria NCBI curation 236800 Feb 16 2016 3897 L1CAM C1839909 Corpus callosum, partial agenesis of, X-linked NCBI curation 304100 Feb 16 2016 3897 L1CAM C0795953 MASA syndrome MONDO MONDO:0010559 303350 Apr 22 2020 3897 L1CAM C0265216 X-linked hydrocephalus syndrome NCBI curation 307000 Feb 16 2016 79944 L2HGDH C1855995 L-2-hydroxyglutaric aciduria Human Phenotype Ontology HP:0040144 236792 Feb 16 2016 144811 LACC1 C3495559 Juvenile arthritis due to defect in LACC1 MONDO MONDO:0032920 618795 May 27 2020 8270 LAGE3 C4538784 GALLOWAY-MOWAT SYNDROME 2, X-LINKED OMIM 301006 301006 Oct 29 2017 284217 LAMA1 C4014821 Poretti-Boltshauser syndrome NCBI curation 615960 Apr 6 2018 3908 LAMA2 C1263858 Merosin deficient congenital muscular dystrophy 607855 Feb 16 2016 3908 LAMA2 C4748327 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 OMIM 618138 618138 Oct 7 2018 3909 LAMA3 C1328355 Laryngo-onycho-cutaneous syndrome MONDO MONDO:0009513 245660 Apr 22 2020 3909 LAMA3 C0079683 Junctional epidermolysis bullosa gravis of Herlitz NCBI curation 226700 Feb 16 2016 3909 LAMA3 C0268374 Junctional epidermolysis bullosa, non-Herlitz type MONDO MONDO:0009180 226650 May 13 2020 3910 LAMA4 C3808935 Dilated cardiomyopathy 1JJ NCBI curation 615235 Feb 16 2016 3912 LAMB1 C3554657 Lissencephaly 5 NCBI curation 615191 May 26 2016 3913 LAMB2 C1836876 Pierson syndrome 609049 Feb 16 2016 3913 LAMB2 C3280113 Nephrotic syndrome, type 5, with or without ocular abnormalities NCBI curation 614199 Feb 16 2016 3914 LAMB3 C0079683 Junctional epidermolysis bullosa gravis of Herlitz NCBI curation 226700 Feb 16 2016 3914 LAMB3 C4011403 Amelogenesis imperfecta, type IA NCBI curation 104530 Feb 16 2016 3914 LAMB3 C0268374 Junctional epidermolysis bullosa, non-Herlitz type MONDO MONDO:0009180 226650 May 13 2020 3918 LAMC2 C0268374 Junctional epidermolysis bullosa, non-Herlitz type MONDO MONDO:0009180 226650 May 13 2020 3918 LAMC2 C0079683 Junctional epidermolysis bullosa gravis of Herlitz NCBI curation 226700 Feb 16 2016 10319 LAMC3 C3279875 Cortical malformations, occipital NCBI curation 614115 Feb 16 2016 3920 LAMP2 C0878677 Danon disease 300257 Feb 16 2016 28956 LAMTOR2 C1835829 Immunodeficiency due to defect in mapbp-interacting protein NCBI curation 610798 Feb 16 2016 9215 LARGE1 C1837229 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 NCBI curation 608840 Feb 16 2016 9215 LARGE1 C4284790 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 NCBI curation 236670 Jan 3 2019 9215 LARGE1 C3150414 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 NCBI curation 613154 Feb 16 2016 51574 LARP7 C3554439 Alazami syndrome NCBI curation 615071 Feb 16 2016 51520 LARS1 C3809522 Infantile liver failure syndrome 1 NCBI curation 615438 Feb 16 2016 23395 LARS2 C4310761 Hydrops, lactic acidosis, and sideroblastic anemia NCBI curation 617021 Aug 24 2016 23395 LARS2 C3809105 Perrault syndrome 4 NCBI curation 615300 Feb 16 2016 81887 LAS1L C1839736 Wilson-Turner X-linked mental retardation syndrome 309585 Feb 16 2016 27040 LAT C4479588 Immunodeficiency 52 NCBI curation 617514 Jun 20 2017 3930 LBR C0748397 Reynolds syndrome 613471 Feb 16 2016 3930 LBR C0030779 Pelger-Huët anomaly 169400 Feb 16 2016 3930 LBR C2931048 Greenberg dysplasia 215140 Feb 16 2016 3930 LBR C4747922 Regressive spondylometaphyseal dysplasia MONDO MONDO:0018663 618019 Apr 22 2020 167691 LCA5 C1858301 Leber congenital amaurosis 5 NCBI curation 604537 Feb 16 2016 3931 LCAT C0342895 Fish-eye disease 136120 Feb 16 2016 3931 LCAT C0023195 Norum disease 245900 Feb 16 2016 3932 LCK C4014233 Immunodeficiency 22 NCBI curation 615758 Feb 16 2016 3938 LCT C0268179 Congenital lactase deficiency 223000 Feb 16 2016 11155 LDB3 C1832244 Dilated cardiomyopathy 1C NCBI curation C1832244 601493 Feb 16 2016 11155 LDB3 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 11155 LDB3 C4721886 Myofibrillar myopathy, ZASP-related NCBI curation 609452 Feb 16 2016 3939 LDHA C2752022 Glycogen storage disease XI NCBI curation 612933 Feb 16 2016 3945 LDHB C3279904 Lactate dehydrogenase B deficiency NCBI curation 614128 Feb 16 2016 197257 LDHD C5193006 Lactic aciduria due to d-lactic acid NCBI curation 245450 Aug 24 2016 3949 LDLR C0745103 Familial hypercholesterolemia 1 NCBI curation 143890 Jan 17 2020 26119 LDLRAP1 C1863512 Familial hypercholesterolemia 4 NCBI curation 603813 Jan 15 2020 221496 LEMD2 C0220721 Cataract Hutterite type NCBI curation 212500 Feb 16 2016 23592 LEMD3 C0265514 Dermatofibrosis lenticularis disseminata 166700 Feb 16 2016 3952 LEP C3554224 Leptin deficiency or dysfunction NCBI curation 614962 Aug 24 2016 3953 LEPR C3554225 Leptin receptor deficiency NCBI curation 614963 Feb 16 2016 3954 LETM1 C1956097 4p partial monosomy syndrome 194190 Feb 16 2016 3955 LFNG C0265343 Jarcho-Levin syndrome NCBI curation Feb 16 2016 3955 LFNG C1853296 Spondylocostal dysostosis 3, autosomal recessive MONDO MONDO:0012349 609813 Apr 22 2020 3957 LGALS2 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 9211 LGI1 C4551957 Familial temporal lobe epilepsy 1 NCBI curation 600512 Dec 26 2019 163175 LGI4 C4479539 Arthrogryposis multiplex congenita, neurogenic, with myelin defect NCBI curation 617468 Jun 20 2017 55366 LGR4 C3714987 Bone mineral density quantitative trait locus 17 NCBI curation 615311 Feb 16 2016 3972 LHB C0271582 Isolated lutropin deficiency 228300 Feb 16 2016 3973 LHCGR C0342549 Gonadotropin-independent familial sexual precocity 176410 Feb 16 2016 3973 LHCGR C0266432 Leydig cell agenesis NCBI curation 238320 Feb 16 2016 222662 LHFPL5 C1853223 Deafness, autosomal recessive 67 NCBI curation 610265 Feb 16 2016 8022 LHX3 C3489787 Non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO MONDO:0009091 221750 Apr 17 2020 89884 LHX4 C2678408 Short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO MONDO:0009880 262700 Apr 17 2020 11019 LIAS C3280887 Pyruvate dehydrogenase lipoic acid synthetase deficiency NCBI curation 614462 Feb 16 2016 3977 LIFR C0796176 Stüve-Wiedemann syndrome MONDO MONDO:0011108 601559 Apr 17 2020 3981 LIG4 C0026764 Multiple myeloma Human Phenotype Ontology HP:0006775 254500 Feb 16 2016 3981 LIG4 C1847827 Lig4 syndrome NCBI curation 606593 Feb 16 2016 3982 LIM2 C3809004 Cataract 19, multiple types NCBI curation 615277 Aug 24 2016 51474 LIMA1 C4748092 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 OMIM 618079 618079 Aug 10 2018 55679 LIMS2 C4225192 Muscular dystrophy, limb-girdle, type 2W NCBI curation 616827 Aug 24 2016 84894 LINGO1 C4748192 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 OMIM 618103 618103 Aug 31 2018 55180 LINS1 C3280538 Mental retardation, autosomal recessive 27 NCBI curation 614340 Feb 16 2016 3988 LIPA C0043208 Lysosomal acid lipase deficiency NCBI curation 278000 Feb 16 2016 3990 LIPC C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 3990 LIPC C3151466 Hepatic lipase deficiency NCBI curation 614025 Feb 16 2016 3990 LIPC C2675071 High density lipoprotein cholesterol level quantitative trait locus 12 NCBI curation 612797 Feb 16 2016 3991 LIPE C4014869 Familial partial lipodystrophy 6 NCBI curation 615980 Feb 16 2016 200879 LIPH C1836672 Hypotrichosis 7 NCBI curation 604379 Feb 16 2016 643418 LIPN C3553029 Autosomal recessive congenital ichthyosis 8 NCBI curation 613943 Feb 16 2016 51601 LIPT1 C4225379 Lipoyltransferase 1 deficiency NCBI curation 616299 Feb 16 2016 387787 LIPT2 C4540052 ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES OMIM 617668 617668 Sep 17 2017 9516 LITAF C0270913 Charcot-Marie-Tooth disease, type 1C NCBI curation 601098 Feb 16 2016 3998 LMAN1 C4551981 Combined deficiency of factor V and factor VIII, 1 NCBI curation 227300 Feb 16 2016 81562 LMAN2L C4225168 Mental retardation, autosomal recessive 52 NCBI curation 616887 May 26 2016 64327 LMBR1 C1868114 Polydactyly, preaxial II NCBI curation 174500 Aug 24 2016 64327 LMBR1 C1861098 Tibia, hypoplasia or aplasia of, with polydactyly NCBI curation 188740 Aug 24 2016 64327 LMBR1 C1861355 Syndactyly, type IV NCBI curation 186200 Apr 8 2018 64327 LMBR1 C1851100 Laurin-Sandrow syndrome MONDO MONDO:0007615 135750 Apr 17 2020 64327 LMBR1 C0265559 Acheiropodia 200500 Feb 16 2016 55788 LMBRD1 C1848578 Methylmalonic aciduria and homocystinuria type cblF MONDO MONDO:0010183 277380 Apr 22 2020 64788 LMF1 C1855498 Lipase deficiency, combined MONDO MONDO:0009527 246650 Apr 22 2020 4000 LMNA C1449563 Dilated cardiomyopathy 1A NCBI curation 115200 Feb 16 2016 4000 LMNA C0406585 Lethal tight skin contracture syndrome 275210 Feb 16 2016 4000 LMNA C2750785 Congenital muscular dystrophy, LMNA-related NCBI curation 613205 Feb 16 2016 4000 LMNA C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 4000 LMNA C1857829 Heart-hand syndrome, Slovenian type 610140 Feb 16 2016 4000 LMNA C0033300 Hutchinson-Gilford syndrome 176670 Feb 16 2016 4000 LMNA C2750035 Emery-Dreifuss muscular dystrophy 3, autosomal recessive NCBI curation 616516 Feb 16 2016 4000 LMNA C0796031 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Orphanet ORPHA2229 212112 May 25 2017 4000 LMNA C0410190 Emery-Dreifuss muscular dystrophy 2, autosomal dominant NCBI curation 181350 Jan 5 2020 4000 LMNA C1854154 Charcot-Marie-Tooth disease type 2B1 605588 Feb 16 2016 4000 LMNA CN031507 Mandibuloacral dysplasia with type A lipodystrophy NCBI curation 248370 Feb 2 2020 4000 LMNA C1720860 Familial partial lipodystrophy 2 NCBI curation 151660 Feb 16 2016 4001 LMNB1 C1868512 Leukodystrophy, adult-onset, autosomal dominant NCBI curation 169500 Feb 16 2016 84823 LMNB2 C4225289 Epilepsy, progressive myoclonic, 9 NCBI curation 616540 Feb 16 2016 84823 LMNB2 C0220989 Acquired partial lipodystrophy 608709 Feb 16 2016 56203 LMOD3 C4015360 Nemaline myopathy 10 NCBI curation 616165 Feb 16 2016 4009 LMX1A C1832379 Deafness, autosomal dominant 7 NCBI curation 601412 Feb 16 2016 4010 LMX1B C0027341 Nail-patella syndrome 161200 Feb 16 2016 80856 LNPK C4748137 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM OMIM 618090 618090 Aug 19 2018 9361 LONP1 C1838180 CODAS syndrome 600373 Feb 16 2016 4014 LORICRIN C1858805 Vohwinkel syndrome, variant form NCBI curation 604117 Feb 16 2016 4015 LOX C4284414 Aortic aneurysm, familial thoracic 10 NCBI curation 617168 Jun 20 2017 125336 LOXHD1 C2746083 Deafness, autosomal recessive 77 NCBI curation 613079 Feb 16 2016 4016 LOXL1 C0206368 Pseudoexfoliation glaucoma 177650 Feb 16 2016 4018 LPA CN263361 LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS OMIM 618807 618807 Mar 13 2020 10161 LPAR6 C3279470 Hypotrichosis 8 NCBI curation 278150 Feb 16 2016 23175 LPIN1 C1849386 Myoglobinuria, acute recurrent, autosomal recessive NCBI curation 268200 Feb 16 2016 9663 LPIN2 C1864997 Majeed syndrome 609628 Feb 16 2016 4023 LPL C0023817 Hyperlipoproteinemia, type I NCBI curation 238600 Feb 16 2016 4023 LPL C0020474 Hyperapobetalipoproteinemia Human Phenotype Ontology HP:0008158 144250 Apr 4 2018 4026 LPP C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 4026 LPP C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 9227 LRAT C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 9227 LRAT C2750063 Leber congenital amaurosis 14 NCBI curation 613341 Feb 16 2016 987 LRBA C3553512 Common variable immunodeficiency 8, with autoimmunity NCBI curation 614700 Feb 16 2016 9860 LRIG2 C3554520 Urofacial syndrome 2 NCBI curation 615112 Feb 16 2016 345193 LRIT3 C3554399 Congenital stationary night blindness, type 1F NCBI curation 615058 Feb 16 2016 83938 LRMDA C3808786 Albinism, oculocutaneous, type VII NCBI curation 615179 Aug 24 2016 4035 LRP1 C0263383 Keratosis pilaris NCBI curation 604093 Feb 16 2016 29967 LRP12 C5231388 Oculopharyngodistal myopathy NCBI curation 164310 Feb 16 2016 4036 LRP2 C1857277 Donnai-Barrow syndrome MONDO MONDO:0009104 222448 Apr 22 2020 4038 LRP4 C4225377 Myasthenic syndrome, congenital, 17 NCBI curation 616304 Feb 16 2016 4038 LRP4 C1859309 Cenani-Lenz syndactyly syndrome MONDO MONDO:0008931 212780 Apr 22 2020 4038 LRP4 C3280402 Sclerosteosis 2 NCBI curation 614305 Feb 16 2016 4041 LRP5 C1843323 Van Buchem disease type 2 607636 Feb 16 2016 4041 LRP5 C1843330 Autosomal dominant osteopetrosis 1 MONDO MONDO:0011877 607634 Apr 22 2020 4041 LRP5 C1866079 Bone mineral density quantitative trait locus 1 NCBI curation 601884 Feb 16 2016 4041 LRP5 C1866176 Exudative vitreoretinopathy 4 NCBI curation 601813 Feb 16 2016 4041 LRP5 C0432273 Worth disease 144750 Feb 16 2016 4041 LRP5 C0432252 Osteoporosis with pseudoglioma 259770 Feb 16 2016 4041 LRP5 C4693479 POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS OMIM 617875 617875 Feb 23 2018 4041 LRP5 C1851402 Exudative vitreoretinopathy 1 NCBI curation 133780 Feb 16 2016 4041 LRP5 C0029458 Postmenopausal osteoporosis NCBI curation 166710 Jul 6 2018 4040 LRP6 C4225231 Tooth agenesis, selective, 7 NCBI curation 616724 Feb 16 2016 4040 LRP6 C1970440 Coronary artery disease, autosomal dominant 2 NCBI curation 610947 Feb 16 2016 7804 LRP8 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 4043 LRPAP1 C3809482 Myopia 23, autosomal recessive NCBI curation 615431 Feb 16 2016 10128 LRPPRC C1857355 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type MONDO MONDO:0009069 220111 Apr 17 2020 115399 LRRC56 C4748841 CILIARY DYSKINESIA, PRIMARY, 39 OMIM 618254 618254 Dec 23 2018 23639 LRRC6 C3543826 Ciliary dyskinesia, primary, 19 NCBI curation 614935 Feb 16 2016 56262 LRRC8A C3150753 Agammaglobulinemia 5, autosomal dominant NCBI curation 613506 Feb 16 2016 120892 LRRK2 C1846862 Parkinson disease 8, autosomal dominant NCBI curation 607060 Feb 16 2016 90678 LRSAM1 C3280797 Charcot-Marie-Tooth disease type 2P NCBI curation 614436 Feb 16 2016 220074 LRTOMT C1969621 Deafness, autosomal recessive 63 NCBI curation 611451 Feb 16 2016 4047 LSS CN272916 ALOPECIA-MENTAL RETARDATION SYNDROME 4 OMIM 618840 618840 Apr 9 2020 4047 LSS C4225300 Cataract 44 NCBI curation 616509 Feb 16 2016 4047 LSS C4748930 HYPOTRICHOSIS 14 OMIM 618275 618275 Jan 10 2019 4049 LTA C1970254 Leprosy 4 NCBI curation 610988 Feb 16 2016 4049 LTA C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 4049 LTA C1835223 Psoriatic arthritis, susceptibility to NCBI curation 607507 Feb 16 2016 4053 LTBP2 C1832977 Glaucoma 3, primary infantile, b NCBI curation 600975 Feb 16 2016 4053 LTBP2 C3553785 Weill-Marchesani syndrome 3 NCBI curation 614819 Feb 16 2016 4053 LTBP2 C2751316 Glaucoma 3, primary congenital, d NCBI curation 613086 Feb 16 2016 4053 LTBP2 C3538951 Microspherophakia Human Phenotype Ontology HP:0030961 251750 Feb 16 2016 4054 LTBP3 C4540511 GELEOPHYSIC DYSPLASIA 3 OMIM 617809 617809 Dec 15 2017 4054 LTBP3 C1832594 Dental anomalies and short stature NCBI curation 601216 Jan 1 2020 8425 LTBP4 C2750804 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities NCBI curation 613177 Feb 16 2016 4056 LTC4S C3279662 Leukotriene c4 synthase deficiency NCBI curation 614037 Feb 16 2016 57128 LYRM4 C3810055 Combined oxidative phosphorylation deficiency 19 NCBI curation 615595 Feb 16 2016 90624 LYRM7 C4014440 Mitochondrial complex III deficiency, nuclear type 8 NCBI curation 615838 Dec 1 2018 1130 LYST C0007965 Chédiak-Higashi syndrome 214500 Feb 16 2016 4069 LYZ C0268389 Familial visceral amyloidosis, Ostertag type NCBI curation 105200 Feb 16 2016 54585 LZTFL1 C3714980 Bardet-Biedl syndrome 17 NCBI curation 615994 Feb 16 2016 8216 LZTR1 C3810283 Schwannomatosis 2 NCBI curation 615670 Feb 16 2016 8216 LZTR1 C1335929 Schwannomatosis OMIM phenotypic series PS162091 Oct 23 2016 8216 LZTR1 C4225280 Noonan syndrome 10 NCBI curation 616564 Feb 16 2016 11178 LZTS1 C0546837 Malignant tumor of esophagus NCBI curation 133239 Feb 16 2016 4081 MAB21L1 C5193118 CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME OMIM 618479 618479 Jun 20 2019 10586 MAB21L2 C4014540 Microphthalmia/coloboma and skeletal dysplasia syndrome NCBI curation 615877 Jun 20 2017 23499 MACF1 C5193029 LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION OMIM 618325 618325 Feb 20 2019 8379 MAD1L1 C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 10459 MAD2L2 C4310652 Fanconi anemia, complementation group V NCBI curation 617243 Jun 20 2017 4094 MAF C3888097 Cataract 21, multiple types NCBI curation 610202 Dec 26 2017 4094 MAF C1832812 Ayme-gripp syndrome NCBI curation 601088 Aug 24 2016 389692 MAFA C1578917 Islet cell adenomatosis NCBI curation 147630 Feb 16 2016 9935 MAFB C2674705 Multicentric carpo-tarsal osteolysis with or without nephropathy MONDO MONDO:0008152 166300 Apr 17 2020 9935 MAFB C4310752 Duane retraction syndrome 3 with or without deafness NCBI curation 617041 Aug 24 2016 4099 MAG C4225250 Spastic paraplegia 75, autosomal recessive NCBI curation 616680 Feb 16 2016 10916 MAGED2 C4310820 Bartter syndrome, type 5, antenatal, transient NCBI curation 300971 Sep 26 2016 54551 MAGEL2 C3809877 Schaaf-Yang syndrome NCBI curation 615547 May 7 2020 54551 MAGEL2 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 9863 MAGI2 C4539896 Nephrotic syndrome type 15 NCBI curation 617609 Jul 24 2018 84061 MAGT1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 Feb 16 2016 84061 MAGT1 C3275445 Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia NCBI curation 300853 Feb 16 2016 84061 MAGT1 C5231393 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc OMIM 301031 301031 Sep 11 2019 4117 MAK C3280042 Retinitis pigmentosa 62 NCBI curation 614181 Feb 16 2016 10892 MALT1 C3809583 Immunodeficiency 12 NCBI curation 615468 Feb 16 2016 10046 MAMLD1 C2677879 Hypospadias 2, X-linked NCBI curation 300758 Feb 16 2016 11253 MAN1B1 C3280127 Mental retardation, autosomal recessive 15 NCBI curation 614202 Feb 16 2016 4125 MAN2B1 C0024748 Deficiency of alpha-mannosidase 248500 Feb 16 2016 4126 MANBA C4048196 Beta-D-mannosidosis 248510 Feb 16 2016 4128 MAOA C0796275 Brunner syndrome MONDO MONDO:0010379 300615 Apr 22 2020 55262 MAP11 C5193046 MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE OMIM 618351 618351 Mar 9 2019 5604 MAP2K1 C3809006 Cardiofaciocutaneous syndrome 3 NCBI curation 615279 Feb 16 2016 5604 MAP2K1 C3149631 Melorheostosis 155950 Feb 16 2016 5604 MAP2K1 C0028326 Noonan syndrome OMIM phenotypic series PS163950 Feb 16 2016 5604 MAP2K1 C4551602 Noonan syndrome 1 NCBI curation 163950 Apr 27 2020 5605 MAP2K2 C3809007 Cardiofaciocutaneous syndrome 4 NCBI curation 615280 Feb 16 2016 4214 MAP3K1 C3151064 46,XY sex reversal, type 6 NCBI curation 613762 Feb 16 2016 51776 MAP3K20 C4540345 MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION OMIM 617760 617760 Nov 9 2017 51776 MAP3K20 C4225167 Split-foot malformation with mesoaxial polydactyly NCBI curation 616890 Nov 17 2017 6885 MAP3K7 C4310697 Frontometaphyseal dysplasia 2 NCBI curation 617137 Jun 20 2017 6885 MAP3K7 C2931461 Cardiospondylocarpofacial syndrome NCBI curation 157800 Oct 29 2018 1326 MAP3K8 C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 9479 MAPK8IP1 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 23162 MAPK8IP3 C5193102 Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA MONDO MONDO:0032755 618443 May 27 2020 7867 MAPKAPK3 C4310713 Macular dystrophy, patterned, 3 NCBI curation 617111 Jun 20 2017 23005 MAPKBP1 C4310640 Nephronophthisis 20 NCBI curation 617271 Feb 2 2018 10982 MAPRE2 C4225225 Skin creases, congenital symmetric circumferential, 2 NCBI curation 616734 Feb 16 2016 4137 MAPT C4551863 Progressive supranuclear ophthalmoplegia 601104 Feb 16 2016 4137 MAPT C0338451 Frontotemporal dementia Human Phenotype Ontology HP:0002145 600274 Feb 16 2016 4137 MAPT C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 4137 MAPT C1850077 Parkinson-dementia syndrome NCBI curation 260540 Feb 16 2016 4137 MAPT C0236642 Pick's disease 172700 Feb 16 2016 10299 MARCHF6 C3150860 Epilepsy, familial adult myoclonic, 3 NCBI curation 613608 Feb 16 2016 4140 MARK3 C4748978 VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI OMIM 618283 618283 Jan 18 2019 4141 MARS1 C4084821 Charcot-Marie-Tooth disease, axonal, type 2u NCBI curation 616280 Feb 16 2016 4141 MARS1 C4225400 Interstitial lung and liver disease NCBI curation 615486 Feb 16 2016 4141 MARS1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation Feb 16 2016 92935 MARS2 C1969645 Ataxia, spastic, 3, autosomal recessive NCBI curation 611390 Feb 16 2016 92935 MARS2 C4225329 Combined oxidative phosphorylation deficiency 25 NCBI curation 616430 Feb 16 2016 153562 MARVELD2 C1857811 Deafness, autosomal recessive 49 NCBI curation 610153 Feb 16 2016 5648 MASP1 C0796059 3MC syndrome 1 MONDO MONDO:0009770 257920 Apr 22 2020 10747 MASP2 C3151085 MASP2 deficiency NCBI curation 613791 Feb 16 2016 22983 MAST1 C4748927 MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS OMIM 618273 618273 Jan 12 2019 4143 MAT1A C0268621 Hepatic methionine adenosyltransferase deficiency NCBI curation 250850 Feb 16 2016 4148 MATN3 C3887526 Osteoarthritis of distal interphalangeal joint 140600 Feb 16 2016 4148 MATN3 C1846843 Multiple epiphyseal dysplasia type 5 MONDO MONDO:0011765 607078 Apr 22 2020 4148 MATN3 CN043640 Multiple Epiphyseal Dysplasia, Dominant GeneReviews NBK1123 Feb 16 2016 4148 MATN3 C1837481 Spondyloepimetaphyseal dysplasia Matrilin-3 related NCBI curation 608728 Feb 2 2018 9782 MATR3 C3807521 Amyotrophic lateral sclerosis 21 NCBI curation 606070 Dec 26 2017 4149 MAX C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviews NBK1548 Feb 16 2016 4149 MAX C0031511 Pheochromocytoma Human Phenotype Ontology HP:0002666 171300 Feb 16 2016 55777 MBD5 C1969562 Mental retardation, autosomal dominant 1 NCBI curation 156200 Feb 16 2016 4153 MBL2 C3280586 Mannose-binding protein deficiency NCBI curation 614372 Feb 16 2016 79143 MBOAT7 C4310673 Mental retardation, autosomal recessive 57 NCBI curation 617188 Jun 20 2017 8720 MBTPS1 C5193071 SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE OMIM 618392 618392 Apr 17 2019 51360 MBTPS2 C1839988 IFAP syndrome with or without BRESHECK syndrome NCBI curation 308205 Feb 16 2016 51360 MBTPS2 C3806745 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked NCBI curation 300918 Feb 16 2016 51360 MBTPS2 C3887525 Keratosis follicularis spinulosa decalvans, X-linked NCBI curation 308800 Mar 5 2020 51360 MBTPS2 C4746956 Osteogenesis imperfecta, type 19 MONDO MONDO:0049223 301014 Apr 17 2020 4157 MC1R C2751296 Increased analgesia from kappa-opioid receptor agonist, female-specific NCBI curation 613098 Feb 16 2016 4157 MC1R C1849452 Skin/hair/eye pigmentation, variation in, 2 NCBI curation 266300 Feb 16 2016 4157 MC1R C2751295 Cutaneous malignant melanoma 5 NCBI curation 613099 Feb 16 2016 4157 MC1R C0268495 Tyrosinase-positive oculocutaneous albinism 203200 Feb 16 2016 4158 MC2R C4049650 ACTH resistance NCBI curation 202200 Feb 16 2016 4159 MC3R C2677162 Body mass index quantitative trait locus 9 NCBI curation 602025 Feb 16 2016 4160 MC4R C4759928 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 OMIM 618406 618406 May 3 2019 4163 MCC C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 56922 MCCC1 CN028786 3 Methylcrotonyl-CoA carboxylase 1 deficiency NCBI curation 210200 Feb 16 2016 64087 MCCC2 C1859499 3-methylcrotonyl CoA carboxylase 2 deficiency NCBI curation 210210 Feb 16 2016 84693 MCEE C1855100 Methylmalonyl-CoA epimerase deficiency NCBI curation 251120 Feb 16 2016 90411 MCFD2 C3150889 Factor v and factor viii, combined deficiency of, 2 NCBI curation 613625 Feb 16 2016 345643 MCIDAS C5231464 CILIARY DYSKINESIA, PRIMARY, 42 OMIM 618695 618695 Dec 15 2019 4171 MCM2 C4310775 Deafness, autosomal dominant 70 NCBI curation 616968 Nov 24 2018 8888 MCM3AP C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 Feb 16 2016 8888 MCM3AP C4748283 PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM 618124 618124 Sep 23 2018 4173 MCM4 C1864947 Natural killer cell and glucocorticoid deficiency with DNA repair defect NCBI curation 609981 Aug 24 2016 4174 MCM5 C4479655 MEIER-GORLIN SYNDROME 8 OMIM 617564 617564 Jul 12 2017 4175 MCM6 C0268181 Nonpersistence of intestinal lactase NCBI curation 223100 Feb 16 2016 84515 MCM8 C4225402 Premature ovarian failure 10 NCBI curation 612885 Aug 24 2016 254394 MCM9 C4015409 Ovarian dysgenesis 4 NCBI curation 616185 Feb 16 2016 57192 MCOLN1 C0238286 Mucolipidosis type IV NCBI curation 252650 Dec 27 2017 79648 MCPH1 C1855081 Primary autosomal recessive microcephaly 1 NCBI curation 251200 Feb 16 2016 4191 MDH2 C4479208 Epileptic encephalopathy, early infantile, 51 NCBI curation 617339 Jun 20 2017 4193 MDM2 C3280690 Accelerated tumor formation, susceptibility to NCBI curation 614401 Feb 16 2016 4193 MDM2 C5231460 LESSEL-KUBISCH SYNDROME OMIM 618681 618681 Nov 28 2019 4194 MDM4 CN280850 BONE MARROW FAILURE SYNDROME 6 OMIM 618849 618849 Apr 24 2020 2122 MECOM C4225221 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 NCBI curation 616738 Feb 16 2016 4204 MECP2 C1845336 Autism, susceptibility to, X-linked 3 NCBI curation 300496 Feb 16 2016 4204 MECP2 C1846058 Syndromic X-linked intellectual disability Lubs type MONDO MONDO:0010283 300260 Apr 17 2020 4204 MECP2 C0035372 Rett syndrome Orphanet ORPHA778 312750 Feb 16 2016 4204 MECP2 C1968550 Mental retardation, X-linked, syndromic 13 NCBI curation 300055 Feb 16 2016 4204 MECP2 C1968556 Severe neonatal-onset encephalopathy with microcephaly Orphanet ORPHA209370 300673 Oct 16 2017 51102 MECR C4310634 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities NCBI curation 617282 Jun 20 2017 9968 MED12 C3698541 Ohdo syndrome, X-linked NCBI curation 300895 Feb 16 2016 9968 MED12 C0796022 X-linked mental retardation with marfanoid habitus syndrome 309520 Feb 16 2016 9968 MED12 C0220769 FG syndrome 1 NCBI curation 305450 Mar 16 2020 116931 MED12L CN280885 NIZON-ISIDOR SYNDROME OMIM 618872 618872 May 7 2020 9969 MED13 C5231400 INTELLECTUAL DEVELOPMENTAL DISORDER 61 OMIM 618009 618009 Feb 2 2020 23389 MED13L C4225208 Mental retardation and distinctive facial features with or without cardiac defects NCBI curation 616789 Feb 16 2016 23389 MED13L C1837341 Transposition of the great arteries, dextro-looped 1 NCBI curation 608808 Jul 1 2017 9440 MED17 C3150921 Microcephaly, postnatal progressive, with seizures and brain atrophy NCBI curation 613668 Feb 16 2016 9439 MED23 C3280265 Mental retardation, autosomal recessive 18 NCBI curation 614249 Feb 16 2016 81857 MED25 C1854150 Charcot-Marie-Tooth disease type 2B2 NCBI curation 605589 May 9 2020 81857 MED25 C4225323 Basel-Vanagaite-Smirin-Yosef syndrome NCBI curation 616449 Feb 16 2016 4205 MEF2A C1842247 Coronary artery disease, autosomal dominant, 1 NCBI curation 608320 Feb 16 2016 4208 MEF2C C3150700 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations NCBI curation 613443 Feb 16 2016 4210 MEFV C0031069 Familial Mediterranean fever NCBI curation 249100 Feb 16 2016 4210 MEFV C1851347 Familial mediterranean fever, autosomal dominant NCBI curation 134610 Feb 16 2016 4210 MEFV C0085077 Acute febrile neutrophilic dermatosis 608068 Feb 16 2016 84466 MEGF10 C3280679 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset NCBI curation 614399 Feb 16 2016 1954 MEGF8 C3554247 Carpenter syndrome 2 NCBI curation 614976 Feb 16 2016 150365 MEI1 C5193093 HYDATIDIFORM MOLE, RECURRENT, 3 OMIM 618431 618431 May 16 2019 254528 MEIOB C4540179 SPERMATOGENIC FAILURE 22 OMIM 617706 617706 Oct 1 2017 4212 MEIS2 C1832950 Cleft palate, cardiac defects, and mental retardation NCBI curation 600987 Jun 20 2017 4221 MEN1 C0025267 Multiple endocrine neoplasia, type 1 NCBI curation 131100 Feb 16 2016 4222 MEOX1 C1859209 Klippel-Feil syndrome 2, autosomal recessive NCBI curation 214300 Feb 16 2016 10461 MERTK C3151228 Retinitis pigmentosa 38 NCBI curation 613862 Feb 16 2016 23184 MESD C5231439 Osteogenesis imperfecta, type 20 MONDO MONDO:0032846 618644 May 27 2020 145873 MESP2 CN032975 Spondylocostal dysostosis 1, autosomal recessive NCBI curation 277300 Aug 24 2016 145873 MESP2 C0265343 Jarcho-Levin syndrome NCBI curation Feb 16 2016 145873 MESP2 C1837549 Spondylocostal dysostosis 2, autosomal recessive MONDO MONDO:0012097 608681 Apr 22 2020 4233 MET C0007134 Renal cell carcinoma, papillary, 1 NCBI curation 605074 Jul 6 2018 4233 MET C4085248 Osteofibrous dysplasia NCBI curation 607278 Feb 16 2016 4233 MET C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 4233 MET C4084709 Deafness, autosomal recessive 97 NCBI curation 616705 Feb 16 2016 124512 METTL23 C4014745 Mental retardation, autosomal recessive 44 NCBI curation 615942 Feb 16 2016 29081 METTL5 C5231452 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 OMIM 618665 618665 Nov 24 2019 8076 MFAP5 C4015368 Aortic aneurysm, familial thoracic 9 NCBI curation 616166 Feb 16 2016 56947 MFF C4310726 Encephalopathy due to defective mitochondrial and peroxisomal fission 2 NCBI curation 617086 Jun 20 2017 9927 MFN2 C4721887 Charcot-Marie-Tooth disease, type 2A2A NCBI curation 609260 Jul 30 2017 9927 MFN2 C0393807 Hereditary motor and sensory neuropathy with optic atrophy 601152 Feb 16 2016 9927 MFN2 C4310725 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B NCBI curation 617087 Jul 30 2017 83552 MFRP C1836006 Nanophthalmos 2 NCBI curation 609549 Feb 16 2016 83552 MFRP C1970236 Microphthalmia, isolated 5 NCBI curation 611040 Feb 16 2016 84879 MFSD2A C4225310 Primary autosomal recessive microcephaly 15 NCBI curation 616486 Feb 16 2016 256471 MFSD8 C1838571 Neuronal ceroid lipofuscinosis 7 MONDO MONDO:0012588 610951 Apr 22 2020 256471 MFSD8 C4015371 Macular dystrophy with central cone involvement NCBI curation 616170 Feb 16 2016 4247 MGAT2 C2931008 Congenital disorder of glycosylation, type IIa NCBI curation 212066 Jan 25 2020 92667 MGME1 C3554462 Mitochondrial DNA depletion syndrome 11 NCBI curation 615084 Feb 16 2016 4256 MGP C1855607 Keutel syndrome 245150 Feb 16 2016 440823 MIAT C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 57534 MIB1 C3554496 Left ventricular noncompaction 7 NCBI curation 615092 Feb 16 2016 64780 MICAL1 C4551957 Familial temporal lobe epilepsy 1 NCBI curation 600512 Dec 26 2019 125988 MICOS13 C5193031 Combined oxidative phosphorylation deficiency 37 NCBI curation 618329 Feb 25 2019 10367 MICU1 C3810285 Myopathy with extrapyramidal signs NCBI curation 615673 Feb 16 2016 4281 MID1 C2936904 Opitz GBBB syndrome, type I NCBI curation 300000 Jan 10 2020 11043 MID2 C3890168 Mental retardation, X-linked 101 NCBI curation 300928 Feb 16 2016 4282 MIF C1858558 Rheumatoid arthritis, systemic juvenile NCBI curation 604302 Feb 16 2016 9562 MINPP1 C4225426 Follicular thyroid carcinoma Human Phenotype Ontology HP:0006731 188470 Apr 4 2018 4284 MIP C3809001 Cataract 15, multiple types NCBI curation 615274 Feb 16 2016 4285 MIPEP C4310661 Combined oxidative phosphorylation deficiency 31 NCBI curation 617228 Jun 20 2017 406932 MIR140 C4305147 SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE OMIM 618618 618618 Oct 11 2019 407975 MIR17HG C3280489 Feingold syndrome 2 NCBI curation 614326 Feb 16 2016 406960 MIR184 C3280392 EDICT syndrome NCBI curation 614303 Oct 9 2017 406987 MIR204 C4225233 Retinal dystrophy and iris coloboma with or without congenital cataract NCBI curation 616722 Feb 16 2016 100422910 MIR2861 C3150680 Bone mineral density quantitative trait locus 15 NCBI curation 613418 Feb 16 2016 407053 MIR96 C3888123 Deafness, autosomal dominant 50 NCBI curation 613074 Feb 16 2016 4286 MITF C1860339 Waardenburg syndrome type 2A 193510 Feb 16 2016 4286 MITF C0391816 Tietz syndrome 103500 Feb 16 2016 4286 MITF C4310625 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness NCBI curation 617306 Jun 20 2017 4286 MITF CN028925 Albinism, ocular, with sensorineural deafness NCBI curation 103470 Feb 16 2016 4286 MITF C3152204 Cutaneous malignant melanoma 8 NCBI curation 614456 Feb 16 2016 8195 MKKS C1858054 Bardet-Biedl syndrome 6 605231 Feb 16 2016 8195 MKKS C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 Feb 16 2016 8195 MKKS C0948368 McKusick-Kaufman syndrome MONDO MONDO:0009367 236700 Apr 22 2020 7681 MKRN3 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 7681 MKRN3 C3809199 Precocious puberty, central, 2 NCBI curation 615346 Feb 16 2016 10108 MKRN3-AS1 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 54903 MKS1 C3714506 Meckel syndrome type 1 NCBI curation 249000 Feb 16 2016 54903 MKS1 C2673873 Bardet-Biedl syndrome 13 NCBI curation 615990 Feb 16 2016 54903 MKS1 C4310705 Joubert syndrome 28 NCBI curation 617121 Jun 20 2017 23209 MLC1 C1858854 Megalencephalic leukoencephalopathy with subcortical cysts NCBI curation Feb 16 2016 23209 MLC1 CN034246 Megalencephalic leukoencephalopathy with subcortical cysts 1 NCBI curation 604004 Feb 16 2016 4292 MLH1 C0265325 Turcot syndrome 276300 Feb 16 2016 4292 MLH1 C1321489 Muir-Torré syndrome NCBI curation 158320 Feb 16 2016 4292 MLH1 C1333991 Lynch syndrome II NCBI curation 609310 Feb 16 2016 27030 MLH3 C1858380 Hereditary nonpolyposis colorectal cancer type 7 NCBI curation 614385 Feb 16 2016 27030 MLH3 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 27030 MLH3 C0476089 Endometrial carcinoma Human Phenotype Ontology HP:0012114 608089 Feb 16 2016 8028 MLLT10 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 8028 MLLT10 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 79083 MLPH C1836573 Griscelli syndrome type 3 609227 Feb 16 2016 51085 MLXIPL C0175702 Williams syndrome 194050 Feb 16 2016 23417 MLYCD C0342793 Deficiency of malonyl-CoA decarboxylase NCBI curation 248360 Feb 16 2016 166785 MMAA C1855109 Vitamin B12-responsive methylmalonic acidemia type cblA MONDO MONDO:0009613 251100 Apr 17 2020 326625 MMAB C1855102 Vitamin B12-responsive methylmalonic acidemia type cblB MONDO MONDO:0009614 251110 Apr 17 2020 25974 MMACHC C1848561 Methylmalonic acidemia with homocystinuria 277400 Feb 16 2016 27249 MMADHC C1848552 Methylmalonic acidemia with homocystinuria cblD NCBI curation 277410 Feb 16 2016 4311 MME C4015635 Charcot-Marie-Tooth disease, axonal, type 2T NCBI curation 617017 Feb 16 2016 4311 MME C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation Feb 16 2016 4311 MME C4310763 Spinocerebellar ataxia 43 NCBI curation 617018 Aug 24 2016 4312 MMP1 C0024117 Chronic obstructive pulmonary disease Human Phenotype Ontology HP:0006510 606963 Jul 6 2018 4312 MMP1 C0079474 Recessive dystrophic epidermolysis bullosa NCBI curation 226600 Feb 16 2016 4322 MMP13 C1865832 Spondyloepimetaphyseal dysplasia, Missouri type NCBI curation 602111 Feb 16 2016 4322 MMP13 C0432225 Metaphyseal chondrodysplasia, Spahr type 250400 Feb 16 2016 4323 MMP14 C0432289 Winchester syndrome NCBI curation 277950 Feb 16 2016 4327 MMP19 C1969063 Cavitary optic disc anomalies NCBI curation 611543 Feb 16 2016 4313 MMP2 C1850155 Multicentric osteolysis, nodulosis and arthropathy NCBI curation 259600 Feb 16 2016 9313 MMP20 C2675858 Amelogenesis imperfecta, hypomaturation type, IIA2 NCBI curation 612529 Feb 16 2016 118856 MMP21 C4225217 Heterotaxy, visceral, 7, autosomal NCBI curation 616749 Feb 16 2016 4314 MMP3 C3280913 Coronary heart disease 6 NCBI curation 614466 Feb 16 2016 4318 MMP9 C2751322 Metaphyseal anadysplasia 2 NCBI curation 613073 Feb 16 2016 4594 MMUT C1855114 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NCBI curation 251000 Feb 16 2016 4330 MN1 C3551915 Meningioma, familial NCBI curation 607174 Feb 16 2016 4330 MN1 CN263278 CEBALID SYNDROME OMIM 618774 618774 Feb 16 2020 3110 MNX1 C1531773 Currarino triad 176450 Feb 16 2016 55034 MOCOS C1863688 Xanthinuria type II MONDO MONDO:0011346 603592 Apr 22 2020 4337 MOCS1 C1854988 Molybdenum cofactor deficiency, complementation group A NCBI curation 252150 Feb 16 2016 4338 MOCS2 C1854989 Molybdenum cofactor deficiency, complementation group B NCBI curation 252160 Feb 16 2016 4340 MOG C3280266 Narcolepsy 7 NCBI curation 614250 Feb 16 2016 7841 MOGS C1853736 Congenital disorder of glycosylation type 2B NCBI curation 606056 Feb 16 2016 22880 MORC2 C4225243 Charcot-Marie-Tooth disease, axonal, type 2z NCBI curation 616688 Feb 16 2016 22880 MORC2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 Feb 16 2016 51660 MPC1 C3553607 Mitochondrial pyruvate carrier deficiency NCBI curation 614741 Feb 16 2016 9526 MPDU1 C1836669 MPDU1-CDG MONDO MONDO:0012211 609180 Apr 17 2020 8777 MPDZ C3554691 Hydrocephalus, congenital, 2, with or without brain or eye anomalies NCBI curation 615219 Sep 27 2018 4351 MPI C1865145 MPI-CDG MONDO MONDO:0011257 602579 Apr 17 2020 80739 MPIG6B C4479504 Thrombocytopenia, anemia, and myelofibrosis NCBI curation 617441 Jun 20 2017 4352 MPL C0001815 Myelofibrosis Human Phenotype Ontology HP:0011974 254450 Feb 16 2016 4352 MPL C3275998 Thrombocytosis, benign familial microcytic NCBI curation 601977 Feb 16 2016 4352 MPL C1327915 Congenital amegakaryocytic thrombocytopenia 604498 Feb 16 2016 136647 MPLKIP C1961117 Trichothiodystrophy, nonphotosensitive 1 NCBI curation 234050 Feb 16 2016 4353 MPO C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 Feb 19 2020 4353 MPO C0398595 Myeloperoxidase deficiency NCBI curation 254600 Feb 16 2016 4358 MPV17 C1850406 Navajo neurohepatopathy NCBI curation 256810 Feb 16 2016 4358 MPV17 C5193076 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE OMIM 618400 618400 Apr 27 2019 4359 MPZ C1843075 Charcot-Marie-Tooth disease dominant intermediate d MONDO MONDO:0011909 607791 Apr 22 2020 4359 MPZ C3888087 Charcot-Marie-Tooth disease type 2I 607677 Feb 16 2016 4359 MPZ C1843153 Charcot-Marie-Tooth disease type 2J 607736 Feb 16 2016 4359 MPZ C0270912 Charcot-Marie-Tooth disease, demyelinating, type 1b NCBI curation 118200 Aug 24 2016 4359 MPZ C0011195 Dejerine-Sottas disease NCBI curation 145900 Feb 16 2016 4359 MPZ C0205713 Roussy-Lévy syndrome 180800 Feb 16 2016 4359 MPZ C4722277 Congenital hypomyelinating neuropathy 2 NCBI curation 618184 Dec 1 2018 10205 MPZL2 C4748374 DEAFNESS, AUTOSOMAL RECESSIVE 111 OMIM 618145 618145 Oct 16 2018 56246 MRAP C4049714 Glucocorticoid deficiency 2 NCBI curation 607398 Feb 16 2016 112609 MRAP2 C3714940 Body mass index quantitative trait locus 18 NCBI curation 615457 Feb 16 2016 22808 MRAS C5193130 NOONAN SYNDROME 11 OMIM 618499 618499 Jul 13 2019 4361 MRE11 C4012790 Ataxia-telangiectasia-like disorder 1 NCBI curation 604391 Dec 24 2016 29960 MRM2 C5231412 MITOCHONDRIAL DNA DEPLETION SYNDROME 17 OMIM 618567 618567 Sep 6 2019 11222 MRPL3 C3281234 Combined oxidative phosphorylation deficiency 9 NCBI curation 614582 Feb 16 2016 65080 MRPL44 C3809339 Combined oxidative phosphorylation deficiency 16 NCBI curation 615395 Feb 16 2016 63931 MRPS14 C5193064 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 OMIM 618378 618378 Apr 10 2019 51021 MRPS16 C1864843 Combined oxidative phosphorylation deficiency 2 NCBI curation 610498 Feb 16 2016 51116 MRPS2 C4693722 Combined oxidative phosphorylation deficiency 36 NCBI curation 617950 Feb 25 2019 56945 MRPS22 C2673642 Combined oxidative phosphorylation deficiency 5 NCBI curation 611719 Feb 16 2016 56945 MRPS22 C4748263 OVARIAN DYSGENESIS 7 OMIM 618117 618117 Sep 14 2018 65993 MRPS34 C4540029 Combined oxidative phosphorylation deficiency 32 NCBI curation 617664 Feb 25 2019 51081 MRPS7 C4693450 Combined oxidative phosphorylation deficiency 34 NCBI curation 617872 Feb 25 2019 57591 MRTFA CN280119 IMMUNODEFICIENCY 66 OMIM 618847 618847 Apr 19 2020 931 MS4A1 C3150740 Common variable immunodeficiency 5 NCBI curation 613495 Feb 16 2016 2206 MS4A2 C1840253 Ige responsiveness, atopic NCBI curation 147050 Feb 16 2016 4436 MSH2 C1321489 Muir-Torré syndrome NCBI curation 158320 Feb 16 2016 4436 MSH2 C2936783 Lynch syndrome I NCBI curation 120435 Feb 16 2016 4436 MSH2 C0265325 Turcot syndrome 276300 Feb 16 2016 4437 MSH3 C4310719 Familial adenomatous polyposis 4 NCBI curation 617100 Jun 20 2017 4437 MSH3 C0476089 Endometrial carcinoma Human Phenotype Ontology HP:0012114 608089 Feb 16 2016 4439 MSH5 C4479510 Premature ovarian failure 13 NCBI curation 617442 Jun 20 2017 2956 MSH6 C0476089 Endometrial carcinoma Human Phenotype Ontology HP:0012114 608089 Feb 16 2016 2956 MSH6 C1833477 Hereditary nonpolyposis colorectal cancer type 5 NCBI curation 614350 Feb 16 2016 2956 MSH6 C0265325 Turcot syndrome 276300 Feb 16 2016 10943 MSL3 C5231394 BASILICATA-AKHTAR SYNDROME OMIM 301032 301032 Dec 14 2019 4477 MSMB C2677821 Prostate cancer, hereditary, 13 NCBI curation 611928 Feb 16 2016 6307 MSMO1 C0262985 Psoriasiform dermatitis NCBI curation Feb 16 2016 6307 MSMO1 C4225189 Microcephaly, congenital cataract, and psoriasiform dermatitis NCBI curation 616834 Jun 22 2016 4478 MSN C4310812 Immunodeficiency 50 NCBI curation 300988 Jun 20 2017 4481 MSR1 C0004763 Barrett esophagus Human Phenotype Ontology HP:0100580 614266 Apr 10 2018 253827 MSRB3 C2239351 Deafness, autosomal recessive 74 NCBI curation 613718 Feb 16 2016 4486 MST1R C4310729 Nasopharyngeal carcinoma, susceptibility to, 3 NCBI curation 617075 Aug 24 2016 2660 MSTN C0236033 Muscle hypertrophy NCBI curation 614160 Feb 16 2016 2660 MSTN C2931112 Myostatin-related muscle hypertrophy NCBI curation Feb 16 2016 55154 MSTO1 C4540096 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO MONDO:0044714 617675 Apr 17 2020 4487 MSX1 C1837210 Orofacial cleft 5 NCBI curation 608874 Feb 16 2016 4487 MSX1 C0406735 Hypoplastic enamel-onycholysis-hypohidrosis syndrome 189500 Feb 16 2016 4487 MSX1 C3489529 Selective tooth agenesis 1 NCBI curation 106600 Feb 16 2016 4488 MSX2 C1868599 Parietal foramina 1 NCBI curation 168500 Feb 16 2016 4488 MSX2 C1858160 Craniosynostosis 2 NCBI curation 604757 May 25 2016 4488 MSX2 C1868597 Parietal foramina with cleidocranial dysplasia NCBI curation 168550 Feb 16 2016 4508 MT-ATP6 C0917796 Leber's optic atrophy 535000 Feb 16 2016 4508 MT-ATP6 C1328349 NARP syndrome MONDO MONDO:0010794 551500 Apr 22 2020 4508 MT-ATP6 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4512 MT-CO1 C0236038 Hereditary hearing loss and deafness NCBI curation Feb 16 2016 4512 MT-CO1 C3151897 Deafness, nonsyndromic sensorineural, mitochondrial NCBI curation 500008 Feb 16 2016 4512 MT-CO1 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4513 MT-CO2 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4514 MT-CO3 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4514 MT-CO3 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4514 MT-CO3 C0917796 Leber's optic atrophy 535000 Feb 16 2016 4519 MT-CYB C0917796 Leber's optic atrophy 535000 Feb 16 2016 4519 MT-CYB C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4535 MT-ND1 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4535 MT-ND1 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4535 MT-ND1 C0917796 Leber's optic atrophy 535000 Feb 16 2016 4535 MT-ND1 C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4536 MT-ND2 C0917796 Leber's optic atrophy 535000 Feb 16 2016 4536 MT-ND2 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4537 MT-ND3 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4538 MT-ND4 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4538 MT-ND4 C0917796 Leber's optic atrophy 535000 Feb 16 2016 4538 MT-ND4 C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4539 MT-ND4L C0917796 Leber's optic atrophy 535000 Feb 16 2016 4540 MT-ND5 C0917796 Leber's optic atrophy 535000 Feb 16 2016 4540 MT-ND5 C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4540 MT-ND5 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4540 MT-ND5 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4541 MT-ND6 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4541 MT-ND6 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4541 MT-ND6 C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4541 MT-ND6 C0917796 Leber's optic atrophy 535000 Feb 16 2016 4549 MT-RNR1 C0236038 Hereditary hearing loss and deafness NCBI curation Feb 16 2016 4549 MT-RNR1 CN184545 Tobramycin response NCBI curation Feb 16 2016 4549 MT-RNR1 C1154708 Streptomycin response NCBI curation Feb 16 2016 4549 MT-RNR1 CN184547 Kanamycin response NCBI curation Feb 16 2016 4549 MT-RNR1 C3151897 Deafness, nonsyndromic sensorineural, mitochondrial NCBI curation 500008 Feb 16 2016 4553 MT-TA C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4511 MT-TC C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4511 MT-TC C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4555 MT-TD C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4558 MT-TF C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4558 MT-TF C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4558 MT-TF C0162672 MERRF syndrome MONDO MONDO:0010790 545000 Apr 22 2020 4564 MT-TH C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4565 MT-TI C0162672 MERRF syndrome MONDO MONDO:0010790 545000 Apr 22 2020 4565 MT-TI CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4566 MT-TK CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4566 MT-TK C0162672 MERRF syndrome MONDO MONDO:0010790 545000 Apr 22 2020 4566 MT-TK C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4566 MT-TK C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4567 MT-TL1 C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4567 MT-TL1 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4567 MT-TL1 C0162672 MERRF syndrome MONDO MONDO:0010790 545000 Apr 22 2020 4567 MT-TL1 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4568 MT-TL2 CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4568 MT-TL2 C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4569 MT-TM C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4570 MT-TN C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 4571 MT-TP C0162672 MERRF syndrome MONDO MONDO:0010790 545000 Apr 22 2020 4572 MT-TQ C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4572 MT-TQ C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4573 MT-TR C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4574 MT-TS1 C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4574 MT-TS1 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4574 MT-TS1 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 4574 MT-TS1 CN184547 Kanamycin response NCBI curation Feb 16 2016 4574 MT-TS1 C1154708 Streptomycin response NCBI curation Feb 16 2016 4574 MT-TS1 C1838854 Aminoglycoside-induced deafness NCBI curation 580000 Feb 16 2016 4574 MT-TS1 CN184225 Gentamicin response NCBI curation Feb 16 2016 4574 MT-TS1 CN184545 Tobramycin response NCBI curation Feb 16 2016 4574 MT-TS1 CN184091 Aminoglycoside response NCBI curation Feb 16 2016 4574 MT-TS1 C3151897 Deafness, nonsyndromic sensorineural, mitochondrial NCBI curation 500008 Feb 16 2016 4574 MT-TS1 C0236038 Hereditary hearing loss and deafness NCBI curation Feb 16 2016 4575 MT-TS2 C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4575 MT-TS2 C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4576 MT-TT C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4576 MT-TT C1838867 Parkinson disease, mitochondrial NCBI curation 556500 Feb 16 2016 4576 MT-TT C1838876 Lethal infantile mitochondrial myopathy Human Phenotype Ontology HP:0009069 551000 Apr 4 2018 4577 MT-TV CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4577 MT-TV C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4577 MT-TV C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4578 MT-TW C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4578 MT-TW C0162671 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 540000 Feb 16 2016 4578 MT-TW CN043634 Mitochondrial DNA-Associated Leigh Syndrome and NARP Feb 16 2016 4578 MT-TW C0162670 Mitochondrial myopathy Human Phenotype Ontology HP:0003737 251900 Feb 16 2016 4579 MT-TY C0751651 Mitochondrial diseases NCBI curation Feb 16 2016 4507 MTAP C1862177 Diaphyseal medullary stenosis-bone malignancy syndrome MONDO MONDO:0007205 112250 Apr 17 2020 123263 MTFMT C4748826 Mitochondrial complex 1 deficiency, nuclear type 27 MONDO MONDO:0032631 618248 May 27 2020 123263 MTFMT C3554182 Combined oxidative phosphorylation deficiency 15 NCBI curation 614947 Feb 16 2016 4522 MTHFD1 C4540434 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA OMIM 617780 617780 Nov 23 2017 4522 MTHFD1 C1866558 Neural tube defects, folate-sensitive NCBI curation 601634 Feb 16 2016 4524 MTHFR C1866558 Neural tube defects, folate-sensitive NCBI curation 601634 Feb 16 2016 4524 MTHFR C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 4524 MTHFR C3160733 Venous thrombosis Human Phenotype Ontology HP:0004936 188050 Feb 16 2016 4524 MTHFR C1856058 Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO MONDO:0009353 236250 Apr 17 2020 10588 MTHFS C5193057 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION OMIM 618367 618367 Mar 29 2019 4534 MTM1 C0410203 Severe X-linked myotubular myopathy NCBI curation 310400 Feb 16 2016 64419 MTMR14 C4551952 Myopathy, centronuclear, 1 NCBI curation 160150 Feb 16 2016 8898 MTMR2 C1832399 Charcot-Marie-Tooth disease, type 4B1 NCBI curation 601382 Feb 16 2016 4544 MTNR1B C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 25821 MTO1 C3553529 Combined oxidative phosphorylation deficiency 10 NCBI curation 614702 Feb 16 2016 2475 MTOR C4225259 Smith-Kingsmore syndrome NCBI curation 616638 Feb 16 2016 2475 MTOR C1846385 Focal cortical dysplasia type II NCBI curation 607341 Nov 19 2017 55149 MTPAP C3150925 Ataxia, spastic, 4, autosomal recessive NCBI curation 613672 Feb 16 2016 4548 MTR C1855128 Methylcobalamin deficiency type cblG MONDO MONDO:0009609 250940 Apr 22 2020 4548 MTR C1866558 Neural tube defects, folate-sensitive NCBI curation 601634 Feb 16 2016 4552 MTRR C1866558 Neural tube defects, folate-sensitive NCBI curation 601634 Feb 16 2016 4552 MTRR C1856057 Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type NCBI curation 236270 Feb 16 2016 4547 MTTP C4552048 Metabolic syndrome X 605552 Feb 16 2016 4547 MTTP C0000744 Abetalipoproteinaemia NCBI curation 200100 Feb 16 2016 4582 MUC1 C1868139 Medullary cystic kidney disease 1 174000 Feb 16 2016 727897 MUC5B C1800706 Idiopathic fibrosing alveolitis, chronic form 178500 Feb 16 2016 4589 MUC7 C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 4593 MUSK C1276035 Pena-Shokeir syndrome type I 208150 Feb 16 2016 4593 MUSK C4225368 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency NCBI curation 616325 Jul 27 2016 4595 MUTYH C0038356 Neoplasm of stomach NCBI curation 613659 Feb 16 2016 4595 MUTYH C1837991 MYH-associated polyposis NCBI curation 608456 Feb 16 2016 4597 MVD C3553549 Porokeratosis 7, multiple types NCBI curation 614714 Aug 24 2016 4598 MVK C1959626 Mevalonic aciduria 610377 Feb 16 2016 4598 MVK C0398691 Hyperimmunoglobulin D with periodic fever 260920 Feb 16 2016 4598 MVK C1867981 Porokeratosis 3, disseminated superficial actinic type MONDO MONDO:0008293 175900 Apr 22 2020 4601 MXI1 C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 4604 MYBPC1 C3554046 Lethal congenital contracture syndrome 4 NCBI curation 614915 Feb 16 2016 4604 MYBPC1 C3280526 Distal arthrogryposis type 1B NCBI curation 614335 Feb 16 2016 4604 MYBPC1 C5231401 MYOPATHY, CONGENITAL, WITH TREMOR OMIM 618524 618524 Aug 23 2019 4607 MYBPC3 C1861862 Familial hypertrophic cardiomyopathy 4 NCBI curation 115197 Feb 16 2016 4607 MYBPC3 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 4607 MYBPC3 C3715165 Left ventricular noncompaction 10 NCBI curation 615396 Feb 16 2016 4609 MYC C0006413 Burkitt lymphoma Human Phenotype Ontology HP:0030080 113970 Jul 6 2018 4613 MYCN C4551774 Feingold syndrome 1 GeneReviews NBK7050 164280 Feb 16 2016 4615 MYD88 C2677092 Myd88 deficiency NCBI curation 612260 Feb 16 2016 4615 MYD88 C1835192 Waldenstrom macroglobulinemia 153600 Feb 16 2016 4617 MYF5 C4748418 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES OMIM 618155 618155 Oct 26 2018 4629 MYH11 C1851504 Aortic aneurysm, familial thoracic 4 132900 Feb 16 2016 79784 MYH14 C3280556 Peripheral neuropathy, myopathy, hoarseness, and hearing loss NCBI curation 614369 Feb 16 2016 79784 MYH14 C1833503 Deafness, autosomal dominant 4 NCBI curation 600652 Feb 16 2016 4620 MYH2 C1854106 Myopathy, proximal, and ophthalmoplegia MONDO MONDO:0011577 605637 Apr 22 2020 4621 MYH3 C5193114 CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B OMIM 618469 618469 Mar 6 2020 4621 MYH3 C0265224 Freeman-Sheldon syndrome 193700 Feb 16 2016 4621 MYH3 C1867440 Contractures, pterygia, and variable skeletal fusions syndrome 1A NCBI curation 178110 Jan 12 2020 4621 MYH3 C5193098 ARTHROGRYPOSIS, DISTAL, TYPE 2B3 OMIM 618436 618436 May 18 2019 4624 MYH6 C2750466 Dilated cardiomyopathy 1EE NCBI curation CN035481 613252 Feb 16 2016 4624 MYH6 C2750467 Familial hypertrophic cardiomyopathy 14 NCBI curation 613251 Feb 16 2016 4624 MYH6 C3495498 Familial hypertrophic cardiomyopathy 1 NCBI curation 192600 Feb 16 2016 4624 MYH6 C3279790 Atrial septal defect 3 NCBI curation 614089 Feb 16 2016 4624 MYH6 C3279791 Sick sinus syndrome 3, susceptibility to NCBI curation 614090 Feb 16 2016 4624 MYH6 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 4625 MYH7 C1850709 Myopathy, myosin storage, autosomal recessive NCBI curation 255160 Aug 24 2016 4625 MYH7 C1834481 Dilated cardiomyopathy 1S NCBI curation CN035445 613426 Feb 16 2016 4625 MYH7 C4552004 Myopathy, distal, 1 NCBI curation 160500 Feb 16 2016 4625 MYH7 C4759774 MYH7-related late-onset scapuloperoneal muscular dystrophy MONDO MONDO:0008409 181430 Apr 17 2020 4625 MYH7 C1842160 Myosin storage myopathy NCBI curation 608358 Feb 16 2016 4625 MYH7 C3495498 Familial hypertrophic cardiomyopathy 1 NCBI curation 192600 Feb 16 2016 4625 MYH7 C0546264 Congenital myopathy with fiber type disproportion 255310 Feb 16 2016 4626 MYH8 C0265226 Hecht syndrome 158300 Feb 16 2016 4626 MYH8 C1837245 Carney complex variant NCBI curation 608837 Feb 16 2016 4627 MYH9 C0340978 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss NCBI curation 155100 Jun 22 2018 4627 MYH9 C1863659 Autosomal dominant nonsyndromic deafness 17 MONDO MONDO:0011350 603622 Apr 17 2020 4632 MYL1 C5193081 Congenital myopathy with reduced type 2 muscle fibers MONDO MONDO:0034109 618414 Apr 17 2020 4633 MYL2 C1834460 Familial hypertrophic cardiomyopathy 10 NCBI curation 608758 Feb 16 2016 4634 MYL3 C1837471 Familial hypertrophic cardiomyopathy 8 NCBI curation 608751 Feb 16 2016 4635 MYL4 C4310636 Atrial fibrillation, familial, 18 NCBI curation 617280 Jun 20 2017 4638 MYLK C3151077 Aortic aneurysm, familial thoracic 7 NCBI curation 613780 Feb 16 2016 85366 MYLK2 C3495498 Familial hypertrophic cardiomyopathy 1 NCBI curation 192600 Feb 16 2016 389827 MYMK C1850746 Congenital nonprogressive myopathy with Moebius and Robin sequences 254940 Feb 16 2016 51168 MYO15A C1838263 Deafness, autosomal recessive 3 NCBI curation 600316 Feb 16 2016 84700 MYO18B C4225285 Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism NCBI curation 616549 Aug 24 2016 4643 MYO1E C3279905 Focal segmental glomerulosclerosis 6 NCBI curation 614131 Feb 16 2016 53904 MYO3A C1846784 Deafness, autosomal recessive 30 NCBI curation 607101 Feb 16 2016 4644 MYO5A C1859194 Griscelli syndrome type 1 214450 Feb 16 2016 4645 MYO5B C0341306 Congenital microvillous atrophy 251850 Feb 16 2016 4646 MYO6 C1853441 Deafness, autosomal dominant 22 NCBI curation 606346 Feb 16 2016 4646 MYO6 C1843028 Deafness, autosomal recessive 37 NCBI curation 607821 Feb 16 2016 4647 MYO7A C1832475 Deafness, autosomal dominant 11 NCBI curation 601317 Feb 16 2016 4647 MYO7A C1568247 Usher syndrome type 1 MONDO MONDO:0010168 276900 Apr 22 2020 4647 MYO7A C1838701 Deafness, autosomal recessive 2 NCBI curation 600060 Feb 16 2016 4649 MYO9A C0751882 Congenital myasthenic syndrome NCBI curation Feb 16 2016 4649 MYO9A C4748684 MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC OMIM 618198 618198 Dec 1 2018 4650 MYO9B C1857847 Celiac disease 4 NCBI curation 609753 Feb 16 2016 4653 MYOC C1842028 Glaucoma 1, open angle, A MONDO MONDO:0007664 137750 Apr 17 2020 93649 MYOCD C5231472 MEGABLADDER, CONGENITAL OMIM 618719 618719 Dec 25 2019 57462 MYORG C5193025 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE OMIM 618317 618317 Feb 10 2019 9499 MYOT C1866785 Spheroid body myopathy 182920 Feb 16 2016 9499 MYOT C3714934 Myofibrillar myopathy 3 NCBI curation 609200 Nov 25 2018 51778 MYOZ2 C3151204 Familial hypertrophic cardiomyopathy 16 NCBI curation 613838 Feb 16 2016 84665 MYPN C3714995 Dilated cardiomyopathy 1KK NCBI curation 615248 Feb 16 2016 84665 MYPN C4479186 Nemaline myopathy 11, autosomal recessive NCBI curation 617336 Jun 20 2017 745 MYRF C4748946 CARDIAC-UROGENITAL SYNDROME OMIM 618280 618280 Jan 13 2019 745 MYRF C4722446 ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION OMIM 618113 618113 Sep 13 2018 114803 MYSM1 C4748257 BONE MARROW FAILURE SYNDROME 4 OMIM 618116 618116 Sep 15 2018 23040 MYT1L C4225296 Mental retardation, autosomal dominant 39 NCBI curation 616521 Feb 16 2016 8260 NAA10 C0796016 Lenz microphthalmia syndrome 309800 Feb 16 2016 8260 NAA10 C3275447 N-terminal acetyltransferase deficiency NCBI curation 300855 Feb 16 2016 80155 NAA15 C4540470 Intellectual disability, autosomal dominant 50 MONDO MONDO:0030916 617787 Apr 17 2020 112939 NACC1 C4479333 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination NCBI curation 617393 Jun 20 2017 133686 NADK2 C1857252 2,4-Dienoyl-CoA reductase deficiency NCBI curation 616034 Feb 16 2016 55191 NADSYN1 CN272929 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 OMIM 618845 618845 Apr 12 2020 4668 NAGA C1836522 Alpha-N-acetylgalactosaminidase deficiency type 2 MONDO MONDO:0012222 609242 Apr 17 2020 4668 NAGA C1836544 Alpha-N-acetylgalactosaminidase deficiency type 1 MONDO MONDO:0012221 609241 Apr 22 2020 4669 NAGLU C0086648 Mucopolysaccharidosis, MPS-III-B 252920 Feb 16 2016 4669 NAGLU C4225306 Charcot-Marie-Tooth disease, axonal type 2V NCBI curation 616491 Feb 16 2016 162417 NAGS C0268543 Hyperammonemia, type III 237310 Feb 16 2016 259232 NALCN C4225398 Congenital contractures of the limbs and face, hypotonia, and developmental delay NCBI curation 616266 Feb 16 2016 259232 NALCN C3809454 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 NCBI curation 615419 Aug 24 2016 340719 NANOS1 C3809427 Spermatogenic failure 12 NCBI curation 615413 Feb 16 2016 54187 NANS C1864872 Spondyloepimetaphyseal dysplasia, Genevieve type MONDO MONDO:0012495 610442 Apr 22 2020 79731 NARS2 C5193096 DEAFNESS, AUTOSOMAL RECESSIVE 94 OMIM 618434 618434 May 26 2019 79731 NARS2 C4015643 Combined oxidative phosphorylation deficiency 24 NCBI curation 616239 Feb 16 2016 10 NAT2 C0878587 Slow acetylator due to N-acetyltransferase enzyme variant NCBI curation 243400 Feb 16 2016 339983 NAT8L C3279716 N-acetylaspartate deficiency NCBI curation 614063 Feb 16 2016 55739 NAXD C5193026 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 NCBI curation 618321 Dec 26 2019 128240 NAXE C4310675 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 NCBI curation 617186 Dec 26 2019 51594 NBAS C3541319 Short stature, optic nerve atrophy, and Pelger-Huet anomaly NCBI curation 614800 Jul 18 2017 51594 NBAS C3809651 Infantile liver failure syndrome 2 NCBI curation 616483 Feb 16 2016 23218 NBEAL2 C0272302 Gray platelet syndrome 139090 Feb 16 2016 4683 NBN C0002874 Aplastic anemia Human Phenotype Ontology HP:0001915 609135 Feb 16 2016 4683 NBN C0398791 Microcephaly, normal intelligence and immunodeficiency 251260 Feb 16 2016 4683 NBN C0023449 Acute lymphoid leukemia NCBI curation 613065 Sep 22 2016 9918 NCAPD2 C4693831 MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE OMIM 617983 617983 May 19 2018 23310 NCAPD3 C4693834 MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE OMIM 617984 617984 May 19 2018 54892 NCAPG2 C5193110 KHAN-KHAN-KATSANIS SYNDROME OMIM 618460 618460 Jul 18 2019 23397 NCAPH C4693843 MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE OMIM 617985 617985 May 19 2018 653361 NCF1 C1856251 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 NCBI curation 233700 Feb 16 2016 4688 NCF2 C1856245 Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 NCBI curation 233710 Feb 16 2016 4689 NCF4 C3151409 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III NCBI curation 613960 Aug 24 2016 259197 NCR3 C1836721 Malaria, mild, susceptibility to NCBI curation 609148 Feb 16 2016 23385 NCSTN C4551962 Familial acne inversa 1 NCBI curation 142690 Feb 16 2016 54820 NDE1 C3151461 Lissencephaly 4 NCBI curation 614019 Feb 16 2016 54820 NDE1 C1857977 NDE1-related microhydranencephaly MONDO MONDO:0011504 605013 Apr 17 2020 4692 NDN C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 79625 NDNF CN272917 HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA OMIM 618841 618841 Apr 9 2020 4693 NDP C1844579 Familial exudative vitreoretinopathy, X-linked GeneReviews NBK1331 305390 Feb 16 2016 4693 NDP C0266526 Atrophia bulborum hereditaria 310600 Feb 16 2016 10397 NDRG1 C1832334 Charcot-Marie-Tooth disease, type 4D NCBI curation 601455 Feb 16 2016 3340 NDST1 C4015283 Mental retardation, autosomal recessive 46 NCBI curation 616116 Feb 16 2016 4694 NDUFA1 C4746984 Mitochondrial complex 1 deficiency, nuclear type 12 MONDO MONDO:0026720 301020 May 27 2020 4705 NDUFA10 C4748796 Mitochondrial complex 1 deficiency, nuclear type 22 MONDO MONDO:0032626 618243 May 27 2020 126328 NDUFA11 C4748777 Mitochondrial complex 1 deficiency, nuclear type 14 MONDO MONDO:0032619 618236 May 27 2020 55967 NDUFA12 C4748799 Mitochondrial complex 1 deficiency, nuclear type 23 MONDO MONDO:0032627 618244 May 27 2020 51079 NDUFA13 C4748827 Mitochondrial complex 1 deficiency, nuclear type 28 MONDO MONDO:0032632 618249 May 27 2020 51079 NDUFA13 C0749424 Hurthle cell carcinoma of thyroid 607464 Feb 16 2016 4695 NDUFA2 C4748770 Mitochondrial complex 1 deficiency, nuclear type 13 MONDO MONDO:0032618 618235 May 27 2020 4700 NDUFA6 C4748840 Mitochondrial complex 1 deficiency, nuclear type 33 MONDO MONDO:0032636 618253 May 27 2020 4704 NDUFA9 C4748809 Mitochondrial complex 1 deficiency, nuclear type 26 MONDO MONDO:0032630 618247 May 27 2020 51103 NDUFAF1 C4748769 Mitochondrial complex 1 deficiency, nuclear type 11 MONDO MONDO:0032617 618234 May 27 2020 91942 NDUFAF2 C4748768 Mitochondrial complex 1 deficiency, nuclear type 10 MONDO MONDO:0032616 618233 May 27 2020 25915 NDUFAF3 C4748790 Mitochondrial complex 1 deficiency, nuclear type 18 MONDO MONDO:0032623 618240 May 27 2020 29078 NDUFAF4 C4748778 Mitochondrial complex 1 deficiency, nuclear type 15 MONDO MONDO:0032620 618237 May 27 2020 79133 NDUFAF5 C4748785 Mitochondrial complex 1 deficiency, nuclear type 16 MONDO MONDO:0032621 618238 May 27 2020 137682 NDUFAF6 CN282533 FANCONI RENOTUBULAR SYNDROME 5 OMIM 618913 618913 Jun 17 2020 137682 NDUFAF6 C4748786 Mitochondrial complex 1 deficiency, nuclear type 17 MONDO MONDO:0032622 618239 May 27 2020 284184 NDUFAF8 CN263285 Mitochondrial complex 1 deficiency, nuclear type 34 MONDO MONDO:0032910 618776 May 27 2020 54539 NDUFB11 C4225421 Linear skin defects with multiple congenital anomalies 3 NCBI curation 300952 Feb 16 2016 54539 NDUFB11 C4746985 Mitochondrial complex 1 deficiency, nuclear type 30 MONDO MONDO:0026721 301021 May 27 2020 54539 NDUFB11 C0796070 Linear skin defects with multiple congenital anomalies 1 NCBI curation 309801 Aug 24 2016 4709 NDUFB3 C4748806 Mitochondrial complex 1 deficiency, nuclear type 25 MONDO MONDO:0032629 618246 May 27 2020 4714 NDUFB8 C4748839 Mitochondrial complex 1 deficiency, nuclear type 32 MONDO MONDO:0032635 618252 May 27 2020 4715 NDUFB9 C4748803 Mitochondrial complex 1 deficiency, nuclear type 24 MONDO MONDO:0032628 618245 May 27 2020 4719 NDUFS1 C4748754 Mitochondrial complex 1 deficiency, nuclear type 5 MONDO MONDO:0032610 618226 May 27 2020 4720 NDUFS2 C4748759 Mitochondrial complex 1 deficiency, nuclear type 6 MONDO MONDO:0032611 618228 May 27 2020 4722 NDUFS3 C4748766 Mitochondrial complex 1 deficiency, nuclear type 8 MONDO MONDO:0032613 618230 May 27 2020 4724 NDUFS4 C1838979 Mitochondrial complex I deficiency, nuclear type 1 NCBI curation 252010 Dec 17 2018 4726 NDUFS6 C4748767 Mitochondrial complex 1 deficiency, nuclear type 9 MONDO MONDO:0032615 618232 May 27 2020 374291 NDUFS7 C4748752 Mitochondrial complex 1 deficiency, nuclear type 3 MONDO MONDO:0032608 618224 May 27 2020 4728 NDUFS8 C4748737 Mitochondrial complex 1 deficiency, nuclear type 2 MONDO MONDO:0032606 618222 May 27 2020 4723 NDUFV1 C4748753 Mitochondrial complex 1 deficiency, nuclear type 4 MONDO MONDO:0032609 618225 May 27 2020 4729 NDUFV2 C4748760 Mitochondrial complex 1 deficiency, nuclear type 7 MONDO MONDO:0032612 618229 May 27 2020 4703 NEB C1850569 Nemaline myopathy 2 256030 Feb 16 2016 25977 NECAP1 C4014430 Early infantile epileptic encephalopathy 21 NCBI curation 615833 Feb 16 2016 5818 NECTIN1 C2931488 Cleft lip/palate-ectodermal dysplasia syndrome NCBI curation 225060 Aug 13 2017 81607 NECTIN4 C3150807 Ectodermal dysplasia-syndactyly syndrome 1 NCBI curation 613573 Feb 16 2016 23327 NEDD4L C4310669 Periventricular nodular heterotopia 7 NCBI curation 617201 Jun 20 2017 4744 NEFH C1862939 Amyotrophic lateral sclerosis type 1 NCBI curation 105400 Feb 16 2016 4744 NEFH C4310790 Charcot-Marie-Tooth disease, axonal, type 2CC NCBI curation 616924 Jun 27 2016 4747 NEFL C1843164 Charcot-Marie-Tooth disease, demyelinating, type 1f NCBI curation 607734 Aug 24 2016 4747 NEFL C4693509 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G OMIM 617882 617882 Mar 8 2018 4747 NEFL C1843225 Charcot-Marie-Tooth disease type 2E 607684 Feb 16 2016 4750 NEK1 C4693523 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 OMIM 617892 617892 Mar 6 2018 4750 NEK1 C0024507 Short rib-polydactyly syndrome, Majewski type 263520 Feb 16 2016 152110 NEK10 CN263303 CILIARY DYSKINESIA, PRIMARY, 44 OMIM 618781 618781 Feb 26 2020 4751 NEK2 C3809954 Retinitis pigmentosa 67 NCBI curation 615565 Feb 16 2016 284086 NEK8 C3809434 Renal-hepatic-pancreatic dysplasia 2 NCBI curation 615415 Feb 16 2016 284086 NEK8 C3151188 Nephronophthisis 9 NCBI curation 613824 Feb 16 2016 91754 NEK9 C0265987 Nevus comedonicus NCBI curation 617025 Aug 24 2016 91754 NEK9 C4310760 Lethal congenital contracture syndrome 10 NCBI curation 617022 Aug 24 2016 91754 NEK9 C3280309 Arthrogryposis, perthes disease, and upward gaze palsy NCBI curation 614262 Feb 16 2016 25871 NEPRO CN280852 ANAUXETIC DYSPLASIA 3 OMIM 618853 618853 Apr 25 2020 4758 NEU1 C4282398 Sialidosis type 2 MONDO MONDO:0009738 256550 Apr 22 2020 4760 NEUROD1 C1853371 Maturity-onset diabetes of the young type 6 MONDO MONDO:0011668 606394 Apr 22 2020 4760 NEUROD1 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 4761 NEUROD2 C5193063 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72 OMIM 618374 618374 Apr 6 2019 50674 NEUROG3 C1835888 Diarrhea 4, malabsorptive, congenital NCBI curation 610370 Feb 16 2016 340533 NEXMIF C3501611 Non-syndromic X-linked intellectual disability NCBI curation Feb 16 2016 340533 NEXMIF C3806730 Mental retardation, X-linked 98 NCBI curation 300912 Feb 16 2016 91624 NEXN C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 91624 NEXN C3151267 Familial hypertrophic cardiomyopathy 20 NCBI curation 613876 Feb 16 2016 91624 NEXN C2751084 Dilated cardiomyopathy 1CC NCBI curation CN035660 613122 Feb 16 2016 4763 NF1 C0027831 Neurofibromatosis, type 1 NCBI curation 162200 Feb 16 2016 4763 NF1 C0349639 Juvenile myelomonocytic leukemia Human Phenotype Ontology HP:0012209 607785 Feb 16 2016 4763 NF1 C0553586 Café-au-lait macules with pulmonary stenosis 193520 Feb 16 2016 4763 NF1 C1834235 Neurofibromatosis, familial spinal NCBI curation 162210 Feb 16 2016 4763 NF1 C2931482 Neurofibromatosis-Noonan syndrome 601321 Feb 16 2016 4771 NF2 C3551915 Meningioma, familial NCBI curation 607174 Feb 16 2016 4771 NF2 C4048809 Schwannomatosis 1 NCBI curation 162091 Oct 23 2016 4771 NF2 C0027832 Neurofibromatosis, type 2 NCBI curation 101000 Feb 16 2016 23114 NFASC C5193049 NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION OMIM 618356 618356 Mar 16 2019 4780 NFE2L2 C4540293 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA OMIM 617744 617744 Nov 1 2017 4774 NFIA C4478940 Brain malformations and urinary tract defects NCBI curation 613735 Jun 20 2017 4781 NFIB C4748993 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT OMIM 618286 618286 Jan 24 2019 4784 NFIX C3553660 Sotos syndrome 2 NCBI curation 614753 Feb 16 2016 4784 NFIX C0265211 Marshall-Smith syndrome 602535 Feb 16 2016 4790 NFKB1 C4225277 Immunodeficiency, common variable, 12 NCBI curation 616576 Feb 16 2016 4791 NFKB2 C3809991 Common variable immunodeficiency 10 NCBI curation 615577 Feb 16 2016 4792 NFKBIA C2677481 Ectodermal dysplasia and immunodeficiency 2 NCBI curation 612132 Feb 8 2020 4795 NFKBIL1 C0003873 Rheumatoid arthritis Human Phenotype Ontology HP:0001370 180300 Jul 22 2019 27247 NFU1 C3276432 Multiple mitochondrial dysfunctions syndrome 1 NCBI curation 605711 Feb 16 2016 4803 NGF C0020075 Congenital sensory neuropathy with selective loss of small myelinated fibers 608654 Feb 16 2016 55768 NGLY1 C3808991 Congenital disorder of deglycosylation NCBI curation 615273 Aug 24 2016 79840 NHEJ1 C1969799 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NCBI curation 611291 Feb 16 2016 378884 NHLRC1 C0751783 Lafora disease 254780 Feb 16 2016 374354 NHLRC2 C4748939 FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS OMIM 618278 618278 Jan 16 2019 55651 NHP2 C1857144 Dyskeratosis congenita autosomal recessive 1 NCBI curation 224230 Feb 16 2016 55651 NHP2 C3151441 Dyskeratosis congenita, autosomal recessive 2 NCBI curation 613987 Feb 16 2016 4810 NHS CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 4810 NHS C4049004 Cataract 40 NCBI curation 302200 Feb 16 2016 4810 NHS C0796085 Nance-Horan syndrome 302350 Feb 16 2016 51199 NIN C3553870 Seckel syndrome 7 NCBI curation 614851 Feb 16 2016 123606 NIPA1 C1838192 Hereditary spastic paraplegia 6 MONDO MONDO:0010878 600363 Apr 17 2020 348938 NIPAL4 C2677065 Autosomal recessive congenital ichthyosis 6 NCBI curation 612281 Feb 16 2016 25836 NIPBL C4551851 Cornelia de Lange syndrome 1 NCBI curation 122470 Feb 16 2016 79576 NKAP CN263370 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE OMIM 301039 301039 Mar 18 2020 7080 NKX2-1 C1970269 Choreoathetosis, hypothyroidism, and neonatal respiratory distress NCBI curation 610978 Feb 16 2016 7080 NKX2-1 C0393584 Benign hereditary chorea 118700 Feb 16 2016 7080 NKX2-1 C4721429 Nonmedullary thyroid carcinoma 1 NCBI curation 188550 Jan 14 2018 1482 NKX2-5 C2673630 Hypothyroidism, congenital, nongoitrous, 5 NCBI curation 225250 Feb 16 2016 1482 NKX2-5 C1857586 Conotruncal heart malformations 217095 Feb 16 2016 1482 NKX2-5 C3280785 Ventricular septal defect 3 NCBI curation 614432 Feb 16 2016 1482 NKX2-5 C0039685 Tetralogy of Fallot Human Phenotype Ontology HP:0001636 187500 Feb 16 2016 1482 NKX2-5 C3276096 Atrial septal defect 7 with or without atrioventricular conduction defects NCBI curation 108900 Feb 16 2016 1482 NKX2-5 C3280795 Hypoplastic left heart syndrome 2 NCBI curation 614435 Feb 16 2016 137814 NKX2-6 C1857586 Conotruncal heart malformations 217095 Feb 16 2016 579 NKX3-2 C2750066 Spondylo-megaepiphyseal-metaphyseal dysplasia NCBI curation 613330 Feb 16 2016 84504 NKX6-2 C4479653 SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY OMIM 617560 617560 Jul 9 2017 22871 NLGN1 CN280925 AUTISM, SUSCEPTIBILITY TO, 20 OMIM 618830 618830 May 15 2020 54413 NLGN3 C1845540 Autism, susceptibility to, X-linked 1 NCBI curation 300425 Feb 16 2016 54413 NLGN3 C1845341 Asperger syndrome X-linked 1 NCBI curation 300494 Feb 16 2016 57502 NLGN4X C1845539 Autism, susceptibility to, X-linked 2 NCBI curation 300495 Feb 16 2016 57502 NLGN4X C1845334 Asperger syndrome X-linked 2 NCBI curation 300497 Feb 16 2016 58484 NLRC4 C4015067 Autoinflammation with infantile enterocolitis NCBI curation 616050 Feb 16 2016 58484 NLRC4 C4015276 Familial cold autoinflammatory syndrome 4 NCBI curation 616115 Feb 16 2016 22861 NLRP1 C3808876 Palmoplantar carcinoma, multiple self-healing NCBI curation 615225 Jun 20 2017 22861 NLRP1 C4479278 Autoinflammation with arthritis and dyskeratosis NCBI curation 617388 Jun 20 2017 22861 NLRP1 C1847835 Vitiligo-associated multiple autoimmune disease susceptibility 1 NCBI curation 606579 Feb 16 2016 22861 NLRP1 CN263365 RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL OMIM 618803 618803 Mar 15 2020 91662 NLRP12 C2673198 Familial cold autoinflammatory syndrome 2 NCBI curation 611762 Feb 16 2016 114548 NLRP3 C1835697 Keratitis fugax hereditaria NCBI curation 148200 Feb 16 2016 114548 NLRP3 C4521680 DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION OMIM 617772 617772 Nov 30 2017 114548 NLRP3 C0268390 Familial amyloid nephropathy with urticaria AND deafness 191900 Feb 16 2016 114548 NLRP3 C4551895 Familial cold urticaria 120100 Feb 16 2016 114548 NLRP3 C0409818 Chronic infantile neurological, cutaneous and articular syndrome 607115 Feb 16 2016 199713 NLRP7 C3463897 Hydatidiform mole, recurrent, 1 NCBI curation 231090 Feb 1 2020 51314 NME8 C1970506 Ciliary dyskinesia, primary, 6 NCBI curation 610852 Feb 16 2016 64802 NMNAT1 C1837873 Leber congenital amaurosis 9 NCBI curation 608553 Feb 16 2016 23530 NNT C3553587 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency NCBI curation 614736 Jun 20 2017 135935 NOBOX C1969060 Premature ovarian failure 5 NCBI curation 611548 Feb 16 2016 64127 NOD2 C4310620 Yao syndrome NCBI curation 617321 Jun 20 2017 64127 NOD2 C0678202 Inflammatory bowel disease 1 NCBI curation 266600 Feb 16 2016 64127 NOD2 C5201146 Blau syndrome NCBI curation 186580 Jan 4 2020 4838 NODAL C3495537 Visceral heterotaxy 5, autosomal NCBI curation 270100 Feb 16 2016 4838 NODAL C0079541 Holoprosencephaly sequence NCBI curation Feb 16 2016 9241 NOG C3714899 Symphalangism, proximal, 1A NCBI curation 185800 Jan 20 2020 9241 NOG C1969652 Brachydactyly type B2 NCBI curation 611377 Feb 16 2016 9241 NOG C0342282 Symphalangism-brachydactyly syndrome 186500 Feb 16 2016 9241 NOG C1866656 Stapes ankylosis with broad thumb and toes NCBI curation 184460 Feb 16 2016 9241 NOG C1861305 Tarsal-carpal coalition syndrome MONDO MONDO:0008521 186570 Apr 22 2020 8996 NOL3 C3539916 Myoclonus, familial 1 NCBI curation 614937 Dec 30 2019 4841 NONO C4225417 Mental retardation, X-linked, syndromic 34 NCBI curation 300967 Jun 22 2017 55505 NOP10 C1857144 Dyskeratosis congenita autosomal recessive 1 NCBI curation 224230 Feb 16 2016 10528 NOP56 C3472711 Spinocerebellar ataxia 36 NCBI curation 614153 Feb 16 2016 4843 NOS2 C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 4846 NOS3 C0085580 Essential hypertension 145500 Feb 16 2016 4846 NOS3 C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 Feb 19 2020 4846 NOS3 C0948008 Ischemic stroke Human Phenotype Ontology HP:0002140 601367 Feb 16 2016 4846 NOS3 CN263178 Preeclampsia/eclampsia 1 NCBI curation 189800 Jan 20 2020 4851 NOTCH1 C3887892 Aortic valve disorder 109730 Feb 16 2016 4851 NOTCH1 C4014970 Adams-Oliver syndrome 5 NCBI curation 616028 Feb 16 2016 4853 NOTCH2 C0917715 Hajdu-Cheney syndrome 102500 Feb 16 2016 4853 NOTCH2 C1857761 Alagille syndrome 2 NCBI curation 610205 Feb 16 2016 100996717 NOTCH2NLC C1863843 Neuronal intranuclear inclusion disease MONDO MONDO:0011327 603472 May 7 2020 100996717 NOTCH2NLC CN280880 TREMOR, HEREDITARY ESSENTIAL, 6 OMIM 618866 618866 May 6 2020 4854 NOTCH3 C0751587 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy NCBI curation Jan 14 2020 4854 NOTCH3 C1851710 Lateral meningocele syndrome MONDO MONDO:0007537 130720 Apr 17 2020 4854 NOTCH3 C4551768 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 NCBI curation 125310 Jan 14 2020 4854 NOTCH3 C3809084 Infantile myofibromatosis 2 NCBI curation 615293 Feb 16 2016 4858 NOVA2 CN280871 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES OMIM 618859 618859 May 2 2020 23742 NPAP1 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 4864 NPC1 C3179455 Niemann-Pick disease type C1 NCBI curation 257220 Feb 16 2016 29881 NPC1L1 C4693795 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 OMIM 617966 617966 May 11 2018 10577 NPC2 C1843366 Niemann-Pick disease, type C2 MONDO MONDO:0011873 607625 Apr 22 2020 4867 NPHP1 C1846790 Joubert syndrome 4 NCBI curation 609583 Feb 16 2016 4867 NPHP1 C4551979 Nephronophthisis 1 NCBI curation 256100 Feb 16 2016 4867 NPHP1 C4551559 Senior-Loken syndrome 1 NCBI curation 266900 Feb 16 2016 27031 NPHP3 C1858392 Nephronophthisis 3 MONDO MONDO:0011456 604387 May 21 2020 27031 NPHP3 C3715199 Renal-hepatic-pancreatic dysplasia 1 NCBI curation 208540 Jan 21 2020 27031 NPHP3 C2673885 Meckel syndrome type 7 NCBI curation 267010 Feb 16 2016 261734 NPHP4 C1847013 Nephronophthisis 4 NCBI curation 606966 Feb 16 2016 261734 NPHP4 C1846979 Senior-Loken syndrome 4 NCBI curation 606996 Feb 16 2016 4868 NPHS1 C0403399 Finnish congenital nephrotic syndrome 256300 Feb 16 2016 7827 NPHS2 CN034406 Nephrotic syndrome, idiopathic, steroid-resistant 600995 Feb 16 2016 4869 NPM1 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 4869 NPM1 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 4878 NPPA C3810401 Atrial standstill 2 NCBI curation 615745 Feb 16 2016 4878 NPPA C2677294 Atrial fibrillation, familial, 6 NCBI curation 612201 Feb 16 2016 4882 NPR2 C4225399 Short stature with nonspecific skeletal abnormalities NCBI curation 616255 Feb 16 2016 4882 NPR2 C4014690 Epiphyseal chondrodysplasia, miura type NCBI curation 615923 Feb 16 2016 4882 NPR2 C1864356 Acromesomelic dysplasia, Maroteaux type MONDO MONDO:0011275 602875 Apr 22 2020 10641 NPRL2 C4310709 Epilepsy, familial focal, with variable foci 2 NCBI curation 617116 Jun 20 2017 8131 NPRL3 C4310708 Epilepsy, familial focal, with variable foci 3 NCBI curation 617118 Jun 20 2017 387129 NPSR1 C1837811 Asthma-related traits, susceptibility to, 2 NCBI curation 608584 Aug 24 2016 4835 NQO2 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 190 NR0B1 C1848296 46,XY sex reversal, type 2 NCBI curation 300018 Feb 16 2016 190 NR0B1 C0342482 Congenital adrenal hypoplasia, X-linked 300200 Feb 16 2016 8431 NR0B2 C0028754 Obesity NCBI curation 601665 Feb 16 2016 9971 NR1H4 C4310747 Cholestasis, progressive familial intrahepatic, 5 NCBI curation 617049 Aug 24 2016 10002 NR2E3 C1849394 Enhanced s-cone syndrome NCBI curation 268100 Feb 16 2016 10002 NR2E3 C1970163 Retinitis pigmentosa 37 NCBI curation 611131 May 25 2016 7025 NR2F1 C3810363 Bosch-Boonstra-Schaaf optic atrophy syndrome NCBI curation 615722 Apr 22 2016 7026 NR2F2 C4014310 Congenital heart defects, multiple types, 4 NCBI curation 615779 Feb 16 2016 7026 NR2F2 CN281159 46,XX SEX REVERSAL 5 OMIM 618901 618901 Jun 4 2020 2908 NR3C1 C1841972 Glucocorticoid resistance, generalized NCBI curation 615962 Feb 16 2016 4306 NR3C2 C1854631 Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy NCBI curation 605115 Feb 16 2016 4306 NR3C2 C1449842 Autosomal dominant pseudohypoaldosteronism type 1 MONDO MONDO:0008329 177735 Apr 22 2020 4929 NR4A2 C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 8013 NR4A3 C1275278 Extraskeletal myxoid chondrosarcoma MONDO MONDO:0012825 612237 Apr 22 2020 2516 NR5A1 C4479552 46,XX sex reversal 4 NCBI curation 617480 Jun 21 2017 2516 NR5A1 C3489793 46,XY sex reversal, type 3 NCBI curation 612965 Feb 16 2016 2516 NR5A1 C3151406 Spermatogenic failure 8 NCBI curation 613957 Feb 16 2016 2516 NR5A1 C2751825 Premature ovarian failure 7 NCBI curation 612964 Feb 16 2016 4893 NRAS C2674723 RAS-associated autoimmune leukoproliferative disorder NCBI curation 614470 Feb 16 2016 4893 NRAS C0334082 Epidermal nevus Human Phenotype Ontology HP:0010816 162900 Feb 16 2016 4893 NRAS C4225426 Follicular thyroid carcinoma Human Phenotype Ontology HP:0006731 188470 Apr 4 2018 4893 NRAS C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 4893 NRAS C0265318 Epidermal nevus syndrome NCBI curation 163200 Feb 16 2016 4893 NRAS C1842036 Large congenital melanocytic nevus MONDO MONDO:0044792 137550 Apr 17 2020 4893 NRAS C2750732 Noonan syndrome 6 613224 Feb 16 2016 4893 NRAS C0544862 Neurocutaneous melanocytosis MONDO MONDO:0009578 249400 Apr 17 2020 3084 NRG1 C1864275 Schizophrenia 6 NCBI curation 603013 Feb 16 2016 8204 NRIP1 C4748921 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 OMIM 618270 618270 Jan 10 2019 4901 NRL C1834329 Retinitis pigmentosa 27 NCBI curation 613750 Feb 16 2016 375387 NRROS CN280930 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS OMIM 618875 618875 May 17 2020 4902 NRTN C0019569 Hirschsprung disease OMIM phenotypic series PS142623 Jan 13 2017 4902 NRTN C0019569 Hirschsprung disease Orphanet ORPHA388 Jan 13 2017 9378 NRXN1 C3808494 Schizophrenia 17 NCBI curation 614332 Feb 16 2016 9378 NRXN1 C3280479 Pitt-Hopkins-like syndrome 2 NCBI curation 614325 Feb 16 2016 64324 NSD1 C4551477 Sotos syndrome 1 NCBI curation 117550 Feb 16 2016 7468 NSD2 C1956097 4p partial monosomy syndrome 194190 Feb 16 2016 50814 NSDHL C0265267 Child syndrome 308050 Feb 16 2016 50814 NSDHL C3151781 CK syndrome MONDO MONDO:0010441 300831 Apr 22 2020 286053 NSMCE2 C4310647 Seckel syndrome 10 NCBI curation 617253 Jun 20 2017 56160 NSMCE3 C4310653 Lung disease, immunodeficiency, and chromosome breakage syndrome NCBI curation 617241 Jun 20 2017 26012 NSMF C3553842 Hypogonadotropic hypogonadism 9 with or without anosmia NCBI curation 614838 Feb 16 2016 54888 NSUN2 C1970199 Mental retardation, autosomal recessive 5 NCBI curation 611091 Feb 16 2016 22978 NT5C2 C3888209 Spastic paraplegia 45, autosomal recessive NCBI curation 613162 Feb 16 2016 51251 NT5C3A C1849507 Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to NCBI curation 266120 Feb 16 2016 4907 NT5E C1859372 Calcification of joints and arteries NCBI curation 211800 Feb 16 2016 4909 NTF4 C2751294 Glaucoma 1, open angle, O NCBI curation 613100 Feb 16 2016 4913 NTHL1 C4225157 Familial adenomatous polyposis 3 NCBI curation 616415 Feb 16 2016 9423 NTN1 C4748869 MIRROR MOVEMENTS 4 OMIM 618264 618264 Jan 10 2019 84628 NTNG2 C5231471 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA OMIM 618718 618718 Dec 25 2019 4914 NTRK1 C0020074 Hereditary insensitivity to pain with anhidrosis NCBI curation 256800 Feb 16 2016 4915 NTRK2 C4693367 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 OMIM 617830 617830 Jan 24 2018 4915 NTRK2 C3151303 Obesity, hyperphagia, and developmental delay NCBI curation 613886 Feb 16 2016 80224 NUBPL C4748792 Mitochondrial complex 1 deficiency, nuclear type 21 MONDO MONDO:0032625 618242 May 27 2020 55270 NUDT15 C4225160 Thiopurines, poor metabolism of, 2 NCBI curation 616903 Nov 9 2016 4926 NUMA1 C0023487 Acute promyelocytic leukemia Human Phenotype Ontology HP:0004836 612376 Feb 16 2016 57122 NUP107 C4225228 Nephrotic syndrome, type 11 NCBI curation 616730 Feb 16 2016 57122 NUP107 C5193044 GALLOWAY-MOWAT SYNDROME 7 OMIM 618348 618348 Mar 13 2019 57122 NUP107 C4748084 OVARIAN DYSGENESIS 6 OMIM 618078 618078 Aug 9 2018 55746 NUP133 C4748549 NEPHROTIC SYNDROME, TYPE 18 OMIM 618177 618177 Nov 14 2018 55746 NUP133 C5193045 GALLOWAY-MOWAT SYNDROME 8 OMIM 618349 618349 Mar 13 2019 9631 NUP155 C4014269 Atrial fibrillation, familial, 15 NCBI curation 615770 Feb 16 2016 23279 NUP160 C4748552 NEPHROTIC SYNDROME, TYPE 19 OMIM 618178 618178 Nov 14 2018 23511 NUP188 CN263352 SANDESTIG-STEFANOVA SYNDROME OMIM 618804 618804 Mar 7 2020 23165 NUP205 C4225165 Nephrotic syndrome, type 13 NCBI curation 616893 Aug 24 2016 8021 NUP214 C0023449 Acute lymphoid leukemia NCBI curation 613065 Sep 22 2016 8021 NUP214 C5193089 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 OMIM 618426 618426 Jun 20 2019 8021 NUP214 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 8021 NUP214 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 79023 NUP37 C4748555 MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE OMIM 618179 618179 Nov 14 2018 23636 NUP62 C0795996 Striatonigral degeneration infantile 271930 Feb 16 2016 79902 NUP85 C4748545 NEPHROTIC SYNDROME, TYPE 17 OMIM 618176 618176 Nov 14 2018 4927 NUP88 C4760578 FETAL AKINESIA DEFORMATION SEQUENCE 4 OMIM 618393 618393 Apr 18 2019 9688 NUP93 C4225166 Nephrotic syndrome, type 12 NCBI curation 616892 May 26 2016 116150 NUS1 C4693371 Intellectual disability, autosomal dominant 55, with seizures MONDO MONDO:0030921 617831 Apr 17 2020 116150 NUS1 C4310727 Congenital disorder of glycosylation, type Iaa NCBI curation 617082 Jan 25 2020 101060691 NUTM2B-AS1 C5231436 OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 OMIM 618637 618637 Oct 25 2019 64359 NXN C5193143 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 OMIM 618529 618529 Aug 10 2019 60506 NYX C3495587 Congenital stationary night blindness, type 1A NCBI curation 310500 Feb 16 2016 4942 OAT C0599035 Ornithine aminotransferase deficiency NCBI curation 258870 Feb 16 2016 23363 OBSL1 C2752041 Three M syndrome 2 NCBI curation 612921 Feb 16 2016 4948 OCA2 C1856895 Skin/hair/eye pigmentation, variation in, 1 NCBI curation 227220 Feb 16 2016 4948 OCA2 C0268495 Tyrosinase-positive oculocutaneous albinism 203200 Feb 16 2016 100506658 OCLN C4552078 Pseudo-TORCH syndrome 1 NCBI curation 251290 Dec 24 2019 4952 OCRL C0028860 Lowe syndrome 309000 Feb 16 2016 4952 OCRL C1845167 Dent disease type 2 MONDO MONDO:0010359 300555 Apr 22 2020 152816 ODAPH C3553830 Amelogenesis imperfecta, hypomaturation type IIA4 NCBI curation 614832 Feb 26 2017 4953 ODC1 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 8481 OFD1 C1510460 Orofaciodigital syndrome I NCBI curation 311200 Dec 26 2019 8481 OFD1 C1846175 Simpson-Golabi-Behmel syndrome, type 2 NCBI curation 300209 Feb 16 2016 8481 OFD1 C1419610 Retinitis Pigmentosa 23 300424 Feb 16 2016 8481 OFD1 C2749019 Joubert syndrome 10 NCBI curation 300804 Feb 16 2016 4967 OGDH C2752074 Oxoglutaricaciduria MONDO MONDO:0008759 203740 Apr 17 2020 4968 OGG1 C3160732 Renal cell carcinoma, nonpapillary NCBI curation 144700 Feb 16 2016 8473 OGT C4478379 Intellectual disability, X-linked 106 MONDO MONDO:0030907 300997 Apr 17 2020 4973 OLR1 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 4976 OPA1 C1847730 Glaucoma, normal tension, susceptibility to NCBI curation 606657 Feb 16 2016 4976 OPA1 C0338508 Dominant hereditary optic atrophy 165500 Feb 16 2016 4976 OPA1 C4225163 Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) NCBI curation 616896 Aug 24 2016 4976 OPA1 C0221061 Abortive cerebellar ataxia 210000 Feb 16 2016 4976 OPA1 C3276549 Autosomal dominant optic atrophy plus syndrome Orphanet ORPHA1215 125250 Dec 26 2016 80207 OPA3 C0574084 3-Methylglutaconic aciduria type 3 258501 Feb 16 2016 80207 OPA3 C1833809 Optic atrophy 3 MONDO MONDO:0008133 165300 Jun 21 2020 4978 OPCML C0919267 Neoplasm of ovary NCBI curation 167000 Feb 16 2016 4983 OPHN1 C1845366 Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance NCBI curation 300486 Feb 16 2016 26873 OPLAH C0268525 5-Oxoprolinase deficiency 260005 Feb 16 2016 5956 OPN1LW C4551767 Protan defect NCBI curation 303900 Feb 16 2016 5956 OPN1LW C0339537 Cone monochromatism 303700 Feb 16 2016 2652 OPN1MW C0339537 Cone monochromatism 303700 Feb 16 2016 2652 OPN1MW C4551635 Deuteranopia Human Phenotype Ontology HP:0011521 303800 Apr 4 2018 611 OPN1SW C0155017 Tritanopia NCBI curation 190900 Feb 16 2016 10133 OPTN C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 Feb 16 2016 10133 OPTN C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 Feb 16 2016 10133 OPTN C1847730 Glaucoma, normal tension, susceptibility to NCBI curation 606657 Feb 16 2016 10133 OPTN C3150692 Amyotrophic lateral sclerosis type 12 NCBI curation 613435 Feb 16 2016 10133 OPTN C0339573 Primary open angle glaucoma Human Phenotype Ontology HP:0012108 137760 Apr 10 2018 442186 OR2J3 C3554456 C3HEX, ability to smell NCBI curation 615082 Feb 16 2016 84876 ORAI1 C2748568 Combined immunodeficiency due to ORAI1 deficiency MONDO MONDO:0013007 612782 Apr 17 2020 84876 ORAI1 C4014557 Myopathy, tubular aggregate, 2 NCBI curation 615883 Feb 16 2016 4998 ORC1 C4552001 Meier-Gorlin syndrome 1 NCBI curation 224690 Feb 16 2016 5000 ORC4 C3151097 Meier-Gorlin syndrome 2 NCBI curation 613800 Feb 16 2016 23594 ORC6 C3151113 Meier-Gorlin syndrome 3 NCBI curation 613803 Feb 16 2016 9885 OSBPL2 C4084712 Deafness, autosomal dominant 67 NCBI curation 616340 Feb 16 2016 55644 OSGEP C4540266 GALLOWAY-MOWAT SYNDROME 3 OMIM 617729 617729 Oct 29 2017 9180 OSMR C4551501 Primary localized cutaneous amyloidosis 1 NCBI curation 105250 Feb 16 2016 28962 OSTM1 C1968603 Osteopetrosis, autosomal recessive 5 NCBI curation 259720 Sep 12 2018 5009 OTC C0268542 Ornithine carbamoyltransferase deficiency NCBI curation 311250 Feb 16 2016 146183 OTOA C1846896 Deafness, autosomal recessive 22 NCBI curation 607039 Feb 16 2016 9381 OTOF C1832828 Deafness, autosomal recessive 9 NCBI curation 601071 Feb 16 2016 340990 OTOG C3554163 Deafness, autosomal recessive 18b NCBI curation 614945 Feb 16 2016 283310 OTOGL C3554159 Deafness, autosomal recessive 84b NCBI curation 614944 Feb 16 2016 51633 OTUD6B C4479520 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies NCBI curation 617452 Jun 20 2017 90268 OTULIN C4310614 Autoinflammation, panniculitis, and dermatosis syndrome NCBI curation 617099 Jun 20 2017 5015 OTX2 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 5015 OTX2 C1864690 Syndromic microphthalmia type 5 MONDO MONDO:0012413 610125 Apr 22 2020 5015 OTX2 C3151440 Pituitary hormone deficiency, combined 6 NCBI curation 613986 Feb 16 2016 58495 OVOL2 C1852555 Posterior polymorphous corneal dystrophy 1 NCBI curation 122000 Jun 30 2016 5019 OXCT1 C0342792 Succinyl-CoA acetoacetate transferase deficiency 245050 Feb 16 2016 55074 OXR1 C0266470 Congenital cerebellar hypoplasia Human Phenotype Ontology HP:0001321 213000 Apr 10 2018 22953 P2RX2 C1842371 Deafness, autosomal dominant 41 NCBI curation 608224 Feb 16 2016 64805 P2RY12 C1853278 Platelet-type bleeding disorder 8 NCBI curation 609821 Feb 16 2016 64175 P3H1 C1970458 Osteogenesis imperfecta type 8 610915 Feb 16 2016 55214 P3H2 C3280346 Myopia, high, with cataract and vitreoretinal degeneration NCBI curation 614292 Feb 16 2016 8974 P4HA2 C4310655 Myopia 25, autosomal dominant NCBI curation 617238 Jun 20 2017 5034 P4HB C4317154 Cole-Carpenter syndrome 1 OMIM 112240 112240 Sep 22 2016 54681 P4HTM C5193124 HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES OMIM 618493 618493 Sep 15 2019 8106 PABPN1 C0270952 Oculopharyngeal muscular dystrophy 164300 Feb 16 2016 55690 PACS1 C3554343 Schuurs-hoeijmakers syndrome NCBI curation 615009 Aug 24 2016 23241 PACS2 C4748070 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 OMIM 618067 618067 Aug 4 2018 51702 PADI3 C4551573 Uncombable hair syndrome 191480 Feb 16 2016 23569 PADI4 C0003873 Rheumatoid arthritis Human Phenotype Ontology HP:0001370 180300 Jul 22 2019 353238 PADI6 C4310659 Preimplantation embryonic lethality 2 NCBI curation 617234 Jun 20 2017 5048 PAFAH1B1 C0431375 Lissencephaly due to LIS1 mutation MONDO MONDO:0011830 607432 May 26 2020 5053 PAH C0751434 Phenylketonuria NCBI curation 261600 Feb 16 2016 5058 PAK1 C4748428 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY OMIM 618158 618158 Nov 1 2018 5063 PAK3 C0796237 Mental retardation 30, X-linked NCBI curation 300558 Feb 16 2016 79728 PALB2 C0027672 Hereditary cancer-predisposing syndrome NCBI curation Aug 26 2016 79728 PALB2 C1835817 Fanconi anemia, complementation group N NCBI curation 610832 Feb 16 2016 79728 PALB2 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 79728 PALB2 C3150547 Pancreatic cancer 3 NCBI curation 613348 Feb 16 2016 23022 PALLD C1847351 Pancreatic cancer 1 NCBI curation 606856 Feb 16 2016 51025 PAM16 C2750075 Spondylometaphyseal dysplasia, megarbane-dagher-melki type NCBI curation 613320 Aug 24 2016 80025 PANK2 C1846582 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration NCBI curation 607236 Feb 16 2016 80025 PANK2 C0018523 Pigmentary pallidal degeneration 234200 Feb 16 2016 55229 PANK4 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 Feb 16 2016 24145 PANX1 C5231407 OOCYTE MATURATION DEFECT 7 OMIM 618550 618550 Aug 25 2019 9060 PAPSS2 C2748515 Spondyloepimetaphyseal dysplasia, pakistani type NCBI curation 612847 Feb 16 2016 11315 PARK7 C1853445 Parkinson disease 7 NCBI curation 606324 Feb 16 2016 5073 PARN C4225356 Dyskeratosis congenita, autosomal recessive 6 NCBI curation 616353 Feb 16 2016 5073 PARN C4225347 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 NCBI curation 616371 Aug 24 2016 25973 PARS2 C5193099 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 OMIM 618437 618437 May 26 2019 197135 PATL2 C4540284 OOCYTE MATURATION DEFECT 4 OMIM 617743 617743 Oct 26 2017 5075 PAX1 C3714942 Otofaciocervical syndrome 2 NCBI curation 615560 Feb 16 2016 5076 PAX2 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 5076 PAX2 C4014925 Focal segmental glomerulosclerosis 7 NCBI curation 616002 Feb 16 2016 5076 PAX2 C1852759 Renal coloboma syndrome 120330 Feb 16 2016 5077 PAX3 C0206655 Alveolar rhabdomyosarcoma (disease) MONDO MONDO:0009994 268220 Apr 17 2020 5077 PAX3 C1847800 Waardenburg syndrome type 1 193500 Feb 16 2016 5077 PAX3 C0079661 Klein-Waardenberg's syndrome NCBI curation 148820 Feb 16 2016 5077 PAX3 C1852510 Craniofacial-deafness-hand syndrome MONDO MONDO:0007395 122880 Apr 22 2020 5078 PAX4 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 5078 PAX4 C3837958 Diabetes mellitus, ketosis-prone NCBI curation 612227 Feb 16 2016 5078 PAX4 C2677132 Maturity-onset diabetes of the young type 9 MONDO MONDO:0012818 612225 Apr 22 2020 5079 PAX5 C3809874 Leukemia, acute lymphoblastic, susceptibility to, 3 NCBI curation 615545 Feb 16 2016 5080 PAX6 C4310809 Irido-corneo-trabecular dysgenesis 604229 Feb 16 2016 5080 PAX6 C0344542 Aniridia 1 NCBI curation 106210 Oct 31 2016 5080 PAX6 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 5080 PAX6 C0206115 Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome NCBI curation 194072 Jul 1 2016 5080 PAX6 C0155299 Coloboma of optic disc NCBI curation 120430 Feb 16 2016 5080 PAX6 C1835698 Keratitis, hereditary 148190 Feb 16 2016 5080 PAX6 CN263371 Coloboma, ocular, autosomal dominant NCBI curation 120200 Mar 18 2020 5080 PAX6 C1833797 Optic nerve hypoplasia, bilateral NCBI curation 165550 Feb 16 2016 5080 PAX6 C3805604 Foveal hypoplasia and presenile cataract syndrome NCBI curation 136520 Feb 16 2016 5081 PAX7 C0206655 Alveolar rhabdomyosarcoma (disease) MONDO MONDO:0009994 268220 Apr 17 2020 5081 PAX7 C5231417 MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS OMIM 618578 618578 Sep 15 2019 7849 PAX8 C1869118 Hypothyroidism, congenital, nongoitrous, 2 MONDO MONDO:0024264 218700 Apr 22 2020 5083 PAX9 C1970291 Tooth agenesis, selective, 3 NCBI curation 604625 Feb 16 2016 5087 PBX1 C4539968 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY OMIM 617641 617641 Aug 27 2017 5091 PC C0034341 Pyruvate carboxylase deficiency 266150 Feb 16 2016 388939 PCARE C3150691 Retinitis pigmentosa 54 NCBI curation 613428 Feb 16 2016 5092 PCBD1 C1849700 Hyperphenylalaninemia, BH4-deficient, D NCBI curation 264070 Feb 16 2016 5095 PCCA C4551877 Propionic acidemia MONDO MONDO:0011628 606054 Apr 17 2020 5096 PCCB C4551877 Propionic acidemia MONDO MONDO:0011628 606054 Apr 17 2020 51294 PCDH12 C4538630 Diencephalic-mesencephalic junction dysplasia syndrome 1 NCBI curation 251280 Dec 21 2019 65217 PCDH15 C1865885 Usher syndrome type 1F MONDO MONDO:0011186 602083 Apr 22 2020 65217 PCDH15 C1832845 Usher syndrome type 1D MONDO MONDO:0010984 601067 Apr 22 2020 65217 PCDH15 C1836027 Deafness, autosomal recessive 23 NCBI curation 609533 Feb 16 2016 57526 PCDH19 C1848137 Early infantile epileptic encephalopathy 9 NCBI curation 300088 Feb 16 2016 7703 PCGF2 C5193060 TURNPENNY-FRY SYNDROME OMIM 618371 618371 Mar 30 2019 5105 PCK1 C1849814 Phosphoenolpyruvate carboxykinase deficiency, cytosolic NCBI curation 261680 Feb 16 2016 5106 PCK2 C1849821 Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NCBI curation 261650 Feb 16 2016 27445 PCLO C1842687 Pontocerebellar hypoplasia type 3 608027 Feb 16 2016 5111 PCNA C4014676 Ataxia-telangiectasia-like disorder 2 NCBI curation 615919 Feb 16 2016 5116 PCNT C0432246 Microcephalic osteodysplastic primordial dwarfism type II MONDO MONDO:0008872 210720 Apr 22 2020 5122 PCSK1 C1833053 Proprotein convertase 1/3 deficiency NCBI curation 600955 Feb 16 2016 5122 PCSK1 C2676498 Body mass index quantitative trait locus 12 NCBI curation 612362 Feb 16 2016 255738 PCSK9 C1863551 Familial hypercholesterolemia 3 NCBI curation 603776 Jan 15 2020 5130 PCYT1A C1837073 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO MONDO:0012160 608940 Apr 17 2020 5833 PCYT2 CN263277 SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE OMIM 618770 618770 Feb 16 2020 5133 PDCD1 C1868685 Multiple sclerosis susceptibility NCBI curation 126200 Feb 16 2016 5133 PDCD1 C1854577 Systemic lupus erythematosus 2 NCBI curation 605218 Feb 16 2016 11235 PDCD10 C1864040 Cerebral cavernous malformations 3 NCBI curation 603285 Feb 16 2016 10846 PDE10A C4310792 Dyskinesia, limb and orofacial, infantile-onset NCBI curation 616921 May 26 2016 10846 PDE10A C4310791 Striatal degeneration, autosomal dominant 2 NCBI curation 616922 May 26 2016 50940 PDE11A C1864851 Pigmented nodular adrenocortical disease, primary, 2 NCBI curation 610475 Feb 16 2016 5137 PDE1C C4748334 DEAFNESS, AUTOSOMAL DOMINANT 74 OMIM 618140 618140 Oct 4 2018 5139 PDE3A C1862170 Brachydactyly-arterial hypertension syndrome MONDO MONDO:0007211 112410 Apr 17 2020 5144 PDE4D C3553250 Acrodysostosis 2, with or without hormone resistance NCBI curation 614613 Feb 16 2016 5145 PDE6A C3151139 Retinitis pigmentosa 43 NCBI curation 613810 Feb 16 2016 5158 PDE6B C3151107 Retinitis pigmentosa 40 NCBI curation 613801 Feb 16 2016 5158 PDE6B C1876182 Congenital stationary night blindness, autosomal dominant 2 NCBI curation 163500 Feb 16 2016 5146 PDE6C C0152200 Achromatopsia Human Phenotype Ontology HP:0011516 Feb 16 2016 5146 PDE6C C2751308 Cone dystrophy 4 NCBI curation 613093 Feb 16 2016 5147 PDE6D C3810278 Joubert syndrome 22 NCBI curation 615665 Feb 16 2016 5148 PDE6G C3150821 Retinitis pigmentosa 57 NCBI curation 613582 Feb 16 2016 5148 PDE6G C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 5149 PDE6H C1864900 Retinal cone dystrophy 3A 610024 Feb 16 2016 5149 PDE6H C0152200 Achromatopsia Human Phenotype Ontology HP:0011516 Feb 16 2016 8622 PDE8B C3280094 Pigmented nodular adrenocortical disease, primary, 3 NCBI curation 614190 Feb 16 2016 8622 PDE8B C4310808 Striatal degeneration, autosomal dominant 1 NCBI curation 609161 Jul 1 2017 5155 PDGFB C3693482 Dermatofibrosarcoma protuberans 607907 Feb 16 2016 5155 PDGFB C4551624 Idiopathic basal ganglia calcification 1 NCBI curation 213600 Jan 1 2020 5155 PDGFB C3809645 Idiopathic basal ganglia calcification 5 NCBI curation 615483 Feb 16 2016 5155 PDGFB C3551915 Meningioma, familial NCBI curation 607174 Feb 16 2016 5156 PDGFRA C0206141 Idiopathic hypereosinophilic syndrome 607685 Feb 16 2016 5156 PDGFRA C5193005 Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal NCBI curation 175510 Feb 16 2016 5159 PDGFRB C4551624 Idiopathic basal ganglia calcification 1 NCBI curation 213600 Jan 1 2020 5159 PDGFRB C3554321 Basal ganglia calcification, idiopathic, 4 NCBI curation 615007 Feb 16 2016 5159 PDGFRB C4225270 Kosaki overgrowth syndrome NCBI curation 616592 Feb 16 2016 5159 PDGFRB C4551572 Infantile myofibromatosis 1 NCBI curation 228550 Feb 16 2016 5159 PDGFRB C1866182 Premature aging syndrome, Penttinen type NCBI curation 601812 Feb 26 2018 5159 PDGFRB C1851585 Myeloproliferative disorder, chronic, with eosinophilia MONDO MONDO:0007546 131440 Apr 17 2020 5157 PDGFRL C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 5157 PDGFRL C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 5160 PDHA1 C1839413 Pyruvate dehydrogenase E1-alpha deficiency NCBI curation 312170 Feb 16 2016 5162 PDHB C3279841 Pyruvate dehydrogenase E1-beta deficiency NCBI curation 614111 Feb 16 2016 8050 PDHX C1855553 Pyruvate dehydrogenase E3-binding protein deficiency NCBI curation 245349 Feb 16 2016 5165 PDK3 C3806702 Charcot-Marie-Tooth disease, X-linked dominant, 6 NCBI curation 300905 Feb 16 2016 8572 PDLIM4 C0029458 Postmenopausal osteoporosis NCBI curation 166710 Jul 6 2018 54704 PDP1 C1837429 Pyruvate dehydrogenase phosphatase deficiency 608782 Feb 16 2016 23590 PDSS1 C3553354 Coenzyme Q10 deficiency, primary, 2 NCBI curation 614651 Feb 16 2016 57107 PDSS2 C3553358 Coenzyme Q10 deficiency, primary, 3 NCBI curation 614652 Feb 16 2016 3651 PDX1 C3891828 Pancreatic agenesis 1 NCBI curation 260370 Feb 6 2020 3651 PDX1 C1833104 Permanent neonatal diabetes mellitus MONDO MONDO:0011643 606176 May 27 2020 3651 PDX1 C1833382 Maturity-onset diabetes of the young type 4 MONDO MONDO:0011667 606392 Apr 22 2020 3651 PDX1 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 8566 PDXK C5193137 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY OMIM 618511 618511 Jul 21 2019 5173 PDYN C1853250 Spinocerebellar ataxia type 23 MONDO MONDO:0012449 610245 Apr 22 2020 79955 PDZD7 C1848634 Usher syndrome, type 2A NCBI curation 276901 Feb 16 2016 79955 PDZD7 C4693893 DEAFNESS, AUTOSOMAL RECESSIVE 57 OMIM 618003 618003 Jun 3 2018 79955 PDZD7 C2931213 Usher syndrome, type 2C NCBI curation 605472 Feb 16 2016 5184 PEPD C0268532 Prolidase deficiency NCBI curation 170100 Feb 16 2016 8864 PER2 C3807327 Familial advanced sleep phase syndrome 1 NCBI curation 604348 Nov 6 2016 8863 PER3 C4225169 Advanced sleep phase syndrome, familial, 3 NCBI curation 616882 Oct 23 2016 105371045 PERCC1 C5231449 DIARRHEA 11, MALABSORPTIVE, CONGENITAL OMIM 618662 618662 Nov 16 2019 100131801 PET100 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 5189 PEX1 C4721541 Peroxisome biogenesis disorder 1A (Zellweger) NCBI curation 214100 Jun 25 2019 5189 PEX1 C4551980 Deafness enamel hypoplasia nail defects 234580 Feb 16 2016 5189 PEX1 C0282527 Peroxisome biogenesis disorder 1B NCBI curation 601539 Feb 16 2016 5192 PEX10 C3553948 Peroxisome biogenesis disorder 6B NCBI curation 614871 Feb 16 2016 5192 PEX10 C3553947 Peroxisome biogenesis disorder 6A NCBI curation 614870 Feb 16 2016 8799 PEX11B C3554055 Peroxisome biogenesis disorder 14B NCBI curation 614920 Feb 16 2016 5193 PEX12 C3553929 Peroxisome biogenesis disorder 3A NCBI curation 614859 Feb 16 2016 5193 PEX12 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation Feb 16 2016 5193 PEX12 C3550693 Infantile Refsum's disease 266510 Feb 16 2016 5194 PEX13 C3554001 Peroxisome biogenesis disorder 11B NCBI curation 614885 Feb 16 2016 5194 PEX13 C3554000 Peroxisome biogenesis disorder 11A NCBI curation 614883 Feb 16 2016 5195 PEX14 C3554004 Peroxisome biogenesis disorder 13A NCBI curation 614887 Feb 16 2016 9409 PEX16 C3553959 Peroxisome biogenesis disorder 8A NCBI curation 614876 Feb 16 2016 9409 PEX16 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation Feb 16 2016 9409 PEX16 C3553960 Peroxisome biogenesis disorder 8B NCBI curation 614877 Feb 16 2016 5824 PEX19 C3554002 Peroxisome biogenesis disorder 12A NCBI curation 614886 Feb 16 2016 5828 PEX2 C3553940 Peroxisome biogenesis disorder 5a (zellweger) NCBI curation 614866 Aug 24 2016 5828 PEX2 C3542026 Peroxisome biogenesis disorder 5B NCBI curation 614867 Feb 16 2016 55670 PEX26 C3553951 Peroxisome biogenesis disorder 7B NCBI curation 614873 Feb 16 2016 55670 PEX26 C3888385 Peroxisome biogenesis disorder 7A NCBI curation 614872 Feb 16 2016 8504 PEX3 C3553999 Peroxisome biogenesis disorder 10A NCBI curation 614882 Feb 16 2016 8504 PEX3 C4479254 Peroxisome biogenesis disorder 10b NCBI curation 617370 Jun 20 2017 5830 PEX5 C3550234 Neonatal adrenoleucodystrophy 202370 Feb 16 2016 5830 PEX5 C4225237 Rhizomelic chondrodysplasia punctata type 5 NCBI curation 616716 Feb 16 2016 5830 PEX5 C3550273 Peroxisome biogenesis disorder 2A (Zellweger) NCBI curation 214110 Jun 26 2019 5190 PEX6 C3553936 Peroxisome biogenesis disorder 4a (zellweger) NCBI curation 614862 Aug 24 2016 5190 PEX6 C4225267 Heimler syndrome 2 NCBI curation 616617 Feb 16 2016 5190 PEX6 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation Feb 16 2016 5190 PEX6 C3553937 Peroxisome biogenesis disorder 4B NCBI curation 614863 Feb 16 2016 5191 PEX7 C1859133 Rhizomelic chondrodysplasia punctata type 1 215100 Feb 16 2016 5191 PEX7 CN159238 Peroxisome biogenesis disorder 9B NCBI curation 614879 Feb 16 2016 5191 PEX7 C0034960 Phytanic acid storage disease 266500 Feb 16 2016 5213 PFKM C0017926 Glycogen storage disease, type VII NCBI curation 232800 Feb 16 2016 5216 PFN1 C3553719 Amyotrophic lateral sclerosis 18 NCBI curation 614808 Feb 16 2016 5224 PGAM2 C0268149 Glycogen storage disease type X NCBI curation 261670 Feb 16 2016 80055 PGAP1 C4014343 Mental retardation, autosomal recessive 42 NCBI curation 615802 Feb 16 2016 27315 PGAP2 C3280153 Hyperphosphatasia with mental retardation syndrome 3 NCBI curation 614207 Feb 16 2016 93210 PGAP3 C3810354 Hyperphosphatasia with mental retardation syndrome 4 NCBI curation 615716 Feb 16 2016 5230 PGK1 C1970848 Phosphoglycerate kinase 1 deficiency NCBI curation 300653 Feb 16 2016 5236 PGM1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 Feb 16 2016 5236 PGM1 C2752015 Congenital disorder of glycosylation type 1t NCBI curation 614921 Feb 16 2016 5238 PGM3 C4014371 Immunodeficiency 23 NCBI curation 615816 Feb 16 2016 5241 PGR C1849699 Progesterone resistance NCBI curation 264080 Feb 16 2016 221692 PHACTR1 C4749023 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 OMIM 618298 618298 Jan 26 2019 5245 PHB C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 1911 PHC1 C3809431 Primary autosomal recessive microcephaly 11 NCBI curation 615414 Feb 16 2016 5251 PHEX C0733682 Familial X-linked hypophosphatemic vitamin D refractory rickets 307800 Feb 16 2016 51317 PHF21A C5231476 INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES OMIM 618725 618725 Feb 13 2020 84295 PHF6 C0265339 Borjeson-Forssman-Lehmann syndrome 301900 Feb 16 2016 23133 PHF8 C1846055 Syndromic X-linked intellectual disability Siderius type MONDO MONDO:0010286 300263 Apr 17 2020 26227 PHGDH C4551478 Neu-Laxova syndrome 1 NCBI curation 256520 Feb 16 2016 26227 PHGDH C1866174 Phosphoglycerate dehydrogenase deficiency NCBI curation 601815 Feb 16 2016 55023 PHIP C4693860 Developmental delay, intellectual disability, obesity, and dysmorphic features MONDO MONDO:0060712 617991 Apr 22 2020 5255 PHKA1 C1845151 Glycogen storage disease IXd NCBI curation 300559 Feb 16 2016 5256 PHKA2 C3694531 Glycogen storage disease type IXa1 NCBI curation 306000 Feb 16 2016 5257 PHKB C0543514 Glycogen storage disease IXb NCBI curation 261750 Feb 16 2016 5261 PHKG2 C2751643 Glycogen storage disease IXc NCBI curation 613027 Feb 16 2016 401 PHOX2A C1865915 Fibrosis of extraocular muscles, congenital, 2 NCBI curation 602078 Feb 16 2016 8929 PHOX2B C1275808 Congenital central hypoventilation NCBI curation 209880 Feb 16 2016 8929 PHOX2B C2751682 Neuroblastoma 2 NCBI curation 613013 Feb 16 2016 5264 PHYH C0034960 Phytanic acid storage disease 266500 Feb 16 2016 85007 PHYKPL C3554344 Phosphohydroxylysinuria NCBI curation 615011 Feb 16 2016 5297 PI4KA C4225295 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis NCBI curation 616531 Feb 16 2016 10464 PIBF1 C4540389 JOUBERT SYNDROME 33 OMIM 617767 617767 Nov 11 2017 8301 PICALM C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 8301 PICALM C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 9780 PIEZO1 C4551512 Xerocytosis NCBI curation 194380 Feb 16 2016 9780 PIEZO1 C4225184 Lymphedema, hereditary, III NCBI curation 616843 Jun 5 2016 63895 PIEZO2 C1862472 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO MONDO:0007158 108145 Apr 17 2020 63895 PIEZO2 C4310692 Arthrogryposis, distal, with impaired proprioception and touch NCBI curation 617146 Jun 20 2017 63895 PIEZO2 C0220666 Gordon's syndrome 114300 Feb 16 2016 63895 PIEZO2 C0796033 Marden-Walker syndrome 248700 Feb 16 2016 5277 PIGA C3275508 Multiple congenital anomalies-hypotonia-seizures syndrome 2 NCBI curation 300868 Feb 16 2016 5277 PIGA C3806670 Paroxysmal nocturnal hemoglobinuria 1 NCBI curation 300818 Feb 16 2016 9488 PIGB C5231418 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 OMIM 618580 618580 Sep 15 2019 5279 PIGC C4540521 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 OMIM 617816 617816 Dec 22 2017 54872 PIGG C4310794 Mental retardation, autosomal recessive 53 NCBI curation 616917 May 26 2016 5283 PIGH C4747891 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 OMIM 618010 618010 Jun 24 2018 10026 PIGK CN280934 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES OMIM 618879 618879 May 20 2020 9487 PIGL C1848392 CHIME syndrome MONDO MONDO:0010221 280000 Apr 22 2020 93183 PIGM C5201145 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO MONDO:0012465 610293 Apr 17 2020 23556 PIGN C3279775 Multiple congenital anomalies-hypotonia-seizures syndrome 1 NCBI curation 614080 Feb 16 2016 84720 PIGO C3553637 Hyperphosphatasia with mental retardation syndrome 2 NCBI curation 614749 Feb 16 2016 51227 PIGP C4539843 Early infantile epileptic encephalopathy 55 NCBI curation 617599 Apr 23 2018 9091 PIGQ C5231405 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 OMIM 618548 618548 Aug 25 2019 94005 PIGS C4748357 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 OMIM 618143 618143 Oct 13 2018 51604 PIGT C3809369 Paroxysmal nocturnal hemoglobinuria 2 NCBI curation 615399 Feb 16 2016 51604 PIGT C3809356 Multiple congenital anomalies-hypotonia-seizures syndrome 3 NCBI curation 615398 Feb 16 2016 128869 PIGU C5231419 Glycosylphosphatidylinositol biosynthesis defect 21 MONDO MONDO:0032824 618590 May 28 2020 55650 PIGV C4551502 Hyperphosphatasia with mental retardation syndrome 1 NCBI curation 239300 Feb 16 2016 284098 PIGW C4014958 Hyperphosphatasia with mental retardation syndrome 5 NCBI curation 616025 Feb 16 2016 84992 PIGY C4225201 Hyperphosphatasia with mental retardation syndrome 6 NCBI curation 616809 Feb 16 2016 5286 PIK3C2A C5193101 OCULOSKELETODENTAL SYNDROME OMIM 618440 618440 May 23 2019 5290 PIK3CA C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 5290 PIK3CA C0038356 Neoplasm of stomach NCBI curation 613659 Feb 16 2016 5290 PIK3CA C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 5290 PIK3CA C0334082 Epidermal nevus Human Phenotype Ontology HP:0010816 162900 Feb 16 2016 5290 PIK3CA C2752042 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi NCBI curation 612918 Feb 16 2016 5290 PIK3CA C3554518 Cowden syndrome 5 NCBI curation 615108 Feb 16 2016 5290 PIK3CA C0265552 Congenital macrodactylia NCBI curation 155500 Feb 16 2016 5290 PIK3CA C0022603 Seborrheic keratosis MONDO MONDO:0008420 182000 May 9 2020 5290 PIK3CA C1865285 Megalencephaly-capillary malformation-polymicrogyria syndrome MONDO MONDO:0011240 602501 Apr 22 2020 5290 PIK3CA C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 5290 PIK3CA C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 5290 PIK3CA C0919267 Neoplasm of ovary NCBI curation 167000 Feb 16 2016 5290 PIK3CA C2751313 Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth NCBI curation 613089 Feb 16 2016 5293 PIK3CD C3714976 Immunodeficiency 14 NCBI curation 615513 Aug 24 2016 5295 PIK3R1 C0878684 SHORT syndrome 269880 Feb 16 2016 5295 PIK3R1 C3554689 Agammaglobulinemia 7, autosomal recessive NCBI curation 615214 Feb 16 2016 5295 PIK3R1 C4014934 Immunodeficiency 36 NCBI curation 616005 Feb 16 2016 5296 PIK3R2 C4012727 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 NCBI curation 603387 Aug 24 2016 23533 PIK3R5 C3554690 Ataxia-oculomotor apraxia 3 NCBI curation 615217 Feb 16 2016 200576 PIKFYVE C1562113 Fleck corneal dystrophy 121850 Feb 16 2016 65018 PINK1 C1853833 Parkinson disease 6, autosomal recessive early-onset NCBI curation 605909 Feb 16 2016 23396 PIP5K1C C1969655 Lethal congenital contractural syndrome 3 NCBI curation 611369 Feb 16 2016 23761 PISD CN281158 Liberfarb syndrome NCBI curation 618889 Jun 19 2020 83394 PITPNM3 C1832976 Cone-rod dystrophy 5 600977 Feb 16 2016 5307 PITX1 C0009081 Clubfoot Human Phenotype Ontology HP:0001762 119800 Apr 17 2020 5307 PITX1 C0009081 Clubfoot MONDO MONDO:0007342 119800 Apr 17 2020 5307 PITX1 C1861313 Liebenberg syndrome NCBI curation 186550 Feb 16 2016 5308 PITX2 C1842031 Anterior segment dysgenesis 4 MONDO MONDO:0007662 137600 Apr 22 2020 5308 PITX2 C1867155 Ring dermoid of cornea 180550 Feb 16 2016 5308 PITX2 C3714873 Axenfeld-Rieger syndrome type 1 NCBI curation 180500 Feb 16 2016 5308 PITX2 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 5309 PITX3 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 5309 PITX3 C4551992 Anterior segment mesenchymal dysgenesis 107250 Feb 16 2016 5309 PITX3 C1864567 Cataract 11 NCBI curation 610623 Jul 24 2018 494513 PJVK C1857744 Deafness, autosomal recessive 59 NCBI curation 610220 Feb 16 2016 5310 PKD1 C3149841 Polycystic kidney disease, adult type NCBI curation 173900 Feb 16 2016 168507 PKD1L1 C4310668 Heterotaxy, visceral, 8, autosomal NCBI curation 617205 Jun 20 2017 5311 PKD2 C2751306 Polycystic kidney disease 2 NCBI curation 613095 Feb 16 2016 91461 PKDCC CN263374 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES OMIM 618821 618821 Mar 22 2020 5314 PKHD1 C0085548 Autosomal recessive polycystic kidney disease Orphanet ORPHA731 263200 Jan 22 2017 5313 PKLR C1863224 Adenosine triphosphate, elevated, of erythrocytes NCBI curation 102900 Feb 16 2016 5313 PKLR C0340968 Pyruvate kinase deficiency of red cells NCBI curation 266200 Feb 16 2016 5317 PKP1 C1858302 Epidermolysis bullosa simplex due to plakophilin deficiency MONDO MONDO:0011472 604536 Apr 17 2020 5318 PKP2 C1836906 Arrhythmogenic right ventricular cardiomyopathy, type 9 NCBI curation 609040 Feb 16 2016 5320 PLA2G2A C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 5321 PLA2G4A C3888207 GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS OMIM 618372 618372 Mar 31 2019 5322 PLA2G5 C1856718 Fleck retina, familial benign NCBI curation 228980 Feb 16 2016 8398 PLA2G6 C2751842 Parkinson disease 14 NCBI curation 612953 Feb 16 2016 8398 PLA2G6 C1857747 Neurodegeneration with brain iron accumulation 2b NCBI curation 610217 Feb 16 2016 8398 PLA2G6 C0270724 Infantile neuroaxonal dystrophy 256600 Feb 16 2016 7941 PLA2G7 C3280315 Platelet-activating factor acetylhydrolase deficiency Human Phenotype Ontology HP:0040175 614278 Feb 16 2016 7941 PLA2G7 C1840253 Ige responsiveness, atopic NCBI curation 147050 Feb 16 2016 7941 PLA2G7 C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 9373 PLAA C4479631 NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES OMIM 617527 617527 Jun 23 2017 5324 PLAG1 C1519176 Pleomorphic adenoma of salivary gland NCBI curation 181030 Feb 16 2016 5324 PLAG1 CN282529 SILVER-RUSSELL SYNDROME 4 OMIM 618907 618907 Jun 14 2020 5327 PLAT C2676721 Thrombophilia, familial, due to decreased release of tissue plasminogen activator NCBI curation 612348 Feb 16 2016 5328 PLAU C1866423 Quebec platelet disorder 601709 Feb 16 2016 5328 PLAU C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 Feb 19 2020 23236 PLCB1 C3150988 Early infantile epileptic encephalopathy 12 NCBI curation 613722 Feb 16 2016 5332 PLCB4 C3553404 Auriculocondylar syndrome 2 NCBI curation 614669 Feb 16 2016 5333 PLCD1 C0544855 Leukonychia totalis 151600 Feb 16 2016 51196 PLCE1 C1853124 Nephrotic syndrome, type 3 NCBI curation 610725 Feb 16 2016 5336 PLCG2 C3553961 Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated NCBI curation 614878 Feb 16 2016 5336 PLCG2 C3280914 Familial cold autoinflammatory syndrome 3 NCBI curation 614468 Feb 16 2016 89869 PLCZ1 C4310666 Spermatogenic failure 17 NCBI curation 617214 Jun 20 2017 5337 PLD1 C1859330 Cardiac valvular defect, developmental NCBI curation 212093 Feb 16 2016 23646 PLD3 C4540404 SPINOCEREBELLAR ATAXIA 46 OMIM 617770 617770 Nov 18 2017 5339 PLEC C0432317 Epidermolysis bullosa simplex, Ogna type 131950 Feb 16 2016 5339 PLEC C2677349 Epidermolysis bullosa simplex with pyloric atresia NCBI curation 612138 Feb 16 2016 5339 PLEC C1856934 Epidermolysis bullosa junctionalis with pyloric atresia NCBI curation 226730 Feb 28 2017 5339 PLEC C4225309 Epidermolysis bullosa simplex with nail dystrophy NCBI curation 616487 Feb 16 2016 5339 PLEC C3150989 Limb-girdle muscular dystrophy, type 2Q NCBI curation 613723 Feb 16 2016 5339 PLEC C2931072 Epidermolysis bullosa simplex with muscular dystrophy MONDO MONDO:0009181 226670 Apr 22 2020 64857 PLEKHG2 C4225213 Leukodystrophy and acquired microcephaly with or without dystonia NCBI curation 616763 Feb 16 2016 57449 PLEKHG5 C3809309 Charcot-Marie-Tooth disease, recessive intermediate c NCBI curation 615376 Feb 16 2016 57449 PLEKHG5 C1970211 Distal spinal muscular atrophy, autosomal recessive 4 NCBI curation 611067 Feb 16 2016 9842 PLEKHM1 C1969093 Autosomal recessive osteopetrosis 6 MONDO MONDO:0012679 611497 Apr 22 2020 9842 PLEKHM1 C4748197 OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 OMIM 618107 618107 Sep 6 2018 5340 PLG C1968804 Plasminogen deficiency, type I NCBI curation 217090 Feb 16 2016 5346 PLIN1 C3151268 Familial partial lipodystrophy 4 NCBI curation 613877 Feb 16 2016 10733 PLK4 C4015388 Microcephaly and chorioretinopathy, autosomal recessive, 2 NCBI curation 616171 Feb 16 2016 5350 PLN C1835928 Dilated cardiomyopathy 1P NCBI curation C1835928 609909 Feb 16 2016 5350 PLN C3151265 Familial hypertrophic cardiomyopathy 18 NCBI curation 613874 Feb 16 2016 5350 PLN C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 5351 PLOD1 C0268342 Ehlers-Danlos syndrome, hydroxylysine-deficient 225400 Feb 16 2016 5352 PLOD2 C1836602 Bruck syndrome 2 609220 Feb 16 2016 8985 PLOD3 C2676285 Bone fragility with contractures, arterial rupture, and deafness NCBI curation 612394 Feb 16 2016 5354 PLP1 C1839264 Hereditary spastic paraplegia 2 MONDO MONDO:0010733 312920 Apr 17 2020 5354 PLP1 C0205711 Pelizaeus-Merzbacher disease 312080 Feb 16 2016 11212 PLPBP C4310632 Epilepsy, early-onset, vitamin b6-dependent NCBI curation 617290 Jun 20 2017 5357 PLS1 CN263293 DEAFNESS, AUTOSOMAL DOMINANT 76 OMIM 618787 618787 Feb 23 2020 5358 PLS3 C3806712 Bone mineral density quantitative trait locus 18 NCBI curation 300910 Feb 16 2016 83483 PLVAP C4748579 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE OMIM 618183 618183 Nov 15 2018 83449 PMFBP1 C4748234 SPERMATOGENIC FAILURE 31 OMIM 618112 618112 Sep 9 2018 5373 PMM2 C0349653 Congenital disorder of glycosylation, type Ia NCBI curation 212065 Jan 25 2020 5375 PMP2 C4748940 Pmp2-related charcot-marie-tooth disease type 1 MONDO MONDO:0033135 618279 Apr 17 2020 5376 PMP22 C0205713 Roussy-Lévy syndrome 180800 Feb 16 2016 5376 PMP22 C0011195 Dejerine-Sottas disease NCBI curation 145900 Feb 16 2016 5376 PMP22 C0270911 Charcot-Marie-Tooth disease, type IA NCBI curation 118220 Feb 16 2016 5376 PMP22 C4083008 Guillain-Barre syndrome, familial NCBI curation 139393 Feb 16 2016 5376 PMP22 C3495591 Charcot-Marie-Tooth disease and deafness NCBI curation 118300 Aug 24 2016 5376 PMP22 C0393814 Hereditary liability to pressure palsies 162500 Feb 16 2016 23203 PMPCA C1859298 Spinocerebellar ataxia, autosomal recessive 2 NCBI curation 213200 Feb 16 2016 9512 PMPCB C4693741 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 OMIM 617954 617954 May 4 2018 5378 PMS1 C2936783 Lynch syndrome I NCBI curation 120435 Feb 16 2016 5395 PMS2 C1838333 Hereditary nonpolyposis colorectal cancer type 4 NCBI curation 614337 Feb 16 2016 5395 PMS2 C0265325 Turcot syndrome 276300 Feb 16 2016 10654 PMVK C0949506 Porokeratosis of Mibelli 175800 Feb 16 2016 25953 PNKD C4551506 Paroxysmal nonkinesigenic dyskinesia 1 NCBI curation 118800 Oct 8 2018 11284 PNKP C1854150 Charcot-Marie-Tooth disease type 2B2 NCBI curation 605589 May 9 2020 11284 PNKP C3150667 Early infantile epileptic encephalopathy 10 NCBI curation 613402 Feb 16 2016 11284 PNKP C4225397 Ataxia-oculomotor apraxia 4 NCBI curation 616267 Feb 16 2016 5406 PNLIP C3280527 Pancreatic lipase deficiency NCBI curation 614338 Feb 16 2016 4860 PNP C0268125 Purine-nucleoside phosphorylase deficiency 613179 Feb 16 2016 285848 PNPLA1 C3554355 Autosomal recessive congenital ichthyosis 10 NCBI curation 615024 Feb 16 2016 57104 PNPLA2 C1853136 Neutral lipid storage myopathy MONDO MONDO:0012545 610717 Apr 17 2020 10908 PNPLA6 C1848745 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO MONDO:0010152 275400 Apr 17 2020 10908 PNPLA6 C2677586 Hereditary spastic paraplegia 39 MONDO MONDO:0012787 612020 Apr 17 2020 10908 PNPLA6 C1859093 Ataxia-hypogonadism-choroidal dystrophy syndrome MONDO MONDO:0008980 215470 Apr 17 2020 10908 PNPLA6 C0023138 Laurence-Moon syndrome 245800 Feb 16 2016 50640 PNPLA8 C1855033 Mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO MONDO:0016825 251950 Apr 17 2020 55163 PNPO C1864723 Pyridoxal phosphate-responsive seizures MONDO MONDO:0012407 610090 Apr 17 2020 87178 PNPT1 C3554129 Combined oxidative phosphorylation deficiency 13 NCBI curation 614932 Feb 16 2016 87178 PNPT1 C1824925 Deafness, autosomal recessive 70 NCBI curation 614934 Feb 16 2016 25886 POC1A C3542022 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis NCBI curation 614813 Feb 16 2016 282809 POC1B C4014856 Cone-rod dystrophy 20 NCBI curation 615973 Feb 16 2016 79983 POF1B C1845105 Premature ovarian failure 2b NCBI curation 300604 Feb 16 2016 23509 POFUT1 C3809147 Dowling-Degos disease 2 NCBI curation 615327 Feb 16 2016 56983 POGLUT1 C4310660 Muscular dystrophy, limb-girdle, type 2z NCBI curation 617232 Jun 20 2017 56983 POGLUT1 C3810313 Dowling-degos disease 4 NCBI curation 615696 Feb 16 2016 23126 POGZ C4225351 White-sutton syndrome NCBI curation 616364 Aug 24 2016 5422 POLA1 C1845050 Pigmentary disorder, reticulate, with systemic manifestations, X-linked NCBI curation 301220 Aug 24 2016 5422 POLA1 C5193012 VAN ESCH-O''''DRISCOLL SYNDROME OMIM 301030 301030 Aug 7 2019 5424 POLD1 C2675481 Colorectal cancer 10 NCBI curation 612591 Feb 16 2016 5424 POLD1 C3715192 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NCBI curation 615381 Feb 16 2016 5426 POLE C3554576 Facial dysmorphism, immunodeficiency, livedo, and short stature NCBI curation 615139 Feb 16 2016 5426 POLE C5193036 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY OMIM 618336 618336 Feb 23 2019 5426 POLE C3554460 Colorectal cancer, susceptibility to, 12 NCBI curation 615083 Feb 16 2016 5428 POLG C1843851 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome MONDO MONDO:0011835 607459 Apr 17 2020 5428 POLG C4225153 Cerebellar ataxia infantile with progressive external ophthalmoplegia 258450 Feb 16 2016 5428 POLG C0205710 Progressive sclerosing poliodystrophy 203700 Feb 16 2016 5428 POLG C4551995 Mitochondrial DNA depletion syndrome 1 (MNGIE type) NCBI curation 603041 Aug 26 2016 5428 POLG C1834846 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 NCBI curation 157640 Feb 16 2016 5428 POLG C3150914 Mitochondrial DNA depletion syndrome 4B, MNGIE type NCBI curation 613662 Feb 16 2016 11232 POLG2 C1864668 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 NCBI curation 610131 Feb 16 2016 11232 POLG2 C5193142 MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) OMIM 618528 618528 Aug 14 2019 5429 POLH C1848410 Xeroderma pigmentosum variant type MONDO MONDO:0010214 278750 Apr 22 2020 25885 POLR1A C4225317 Acrofacial dysostosis, Cincinnati type NCBI curation 616462 Feb 16 2016 9533 POLR1C C4225305 Leukodystrophy, hypomyelinating, 11 NCBI curation 616494 Feb 16 2016 9533 POLR1C C1855433 Treacher Collins syndrome 3 MONDO MONDO:0009558 248390 Apr 22 2020 51082 POLR1D C3150983 Treacher Collins syndrome 2 NCBI curation 613717 Nov 4 2016 5430 POLR2A C5231423 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES OMIM 618603 618603 Sep 29 2019 11128 POLR3A C2676243 Hypomyelinating leukodystrophy 7 NCBI curation 607694 Feb 16 2016 11128 POLR3A C0406586 Neonatal pseudo-hydrocephalic progeroid syndrome 264090 Feb 16 2016 55703 POLR3B C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 55703 POLR3B C3280644 Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism NCBI curation 614381 Feb 16 2016 55703 POLR3B C2676243 Hypomyelinating leukodystrophy 7 NCBI curation 607694 Feb 16 2016 5443 POMC C0028754 Obesity NCBI curation 601665 Feb 16 2016 5443 POMC C1857854 Proopiomelanocortin deficiency NCBI curation 609734 Feb 16 2016 55624 POMGNT1 C4310704 Retinitis pigmentosa 76 NCBI curation 617123 Jun 20 2017 55624 POMGNT1 C3150412 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 NCBI curation 613151 Feb 16 2016 55624 POMGNT1 C3150417 Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 NCBI curation 613157 Feb 16 2016 55624 POMGNT1 C0457133 Muscle eye brain disease 253280 Feb 16 2016 84892 POMGNT2 C4748320 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 OMIM 618135 618135 Oct 3 2018 84892 POMGNT2 C3553813 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 NCBI curation 614830 Aug 24 2016 84197 POMK C4015184 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 NCBI curation 616094 Jun 20 2017 84197 POMK C3808964 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 NCBI curation 615249 Aug 24 2016 51371 POMP C4747989 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 OMIM 618048 618048 Jul 19 2018 51371 POMP C1866029 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NCBI curation 601952 Feb 16 2016 10585 POMT1 C4284790 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 NCBI curation 236670 Jan 3 2019 10585 POMT1 C1836373 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 NCBI curation 609308 Feb 16 2016 10585 POMT1 C3150415 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 NCBI curation 613155 Feb 16 2016 29954 POMT2 C3150416 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 NCBI curation 613156 Feb 16 2016 29954 POMT2 C3150418 Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 NCBI curation 613158 Feb 16 2016 29954 POMT2 C3150411 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 NCBI curation 613150 Feb 16 2016 29954 POMT2 C4284790 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 NCBI curation 236670 Jan 3 2019 5444 PON1 C2674665 Microvascular complications of diabetes 5 NCBI curation 612633 Feb 16 2016 10940 POP1 C4479357 Anauxetic dysplasia 2 NCBI curation 617396 Jun 20 2017 64208 POPDC3 CN280722 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM 618848 618848 Apr 22 2020 5447 POR C2673964 Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency NCBI curation 613571 Feb 16 2016 5447 POR C3150099 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis NCBI curation 201750 Feb 16 2016 5447 POR C2936791 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis NCBI curation 207410 Feb 16 2016 64840 PORCN CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 64840 PORCN C0016395 Focal dermal hypoplasia 305600 Feb 16 2016 25913 POT1 C4225278 Glioma susceptibility 9 NCBI curation 616568 Feb 16 2016 25913 POT1 C4014476 Melanoma, cutaneous malignant, susceptibility to, 10 NCBI curation 615848 Feb 16 2016 5449 POU1F1 C2751608 Pituitary hormone deficiency, combined, 1 MONDO MONDO:0024464 613038 Apr 22 2020 5455 POU3F3 C5231424 SNIJDERS BLOK-FISHER SYNDROME OMIM 618604 618604 Oct 4 2019 5456 POU3F4 C1844678 Deafness, X-linked 2 304400 Feb 16 2016 5456 POU3F4 C0236038 Hereditary hearing loss and deafness NCBI curation Feb 16 2016 5459 POU4F3 C1865366 Deafness, autosomal dominant 15 NCBI curation 602459 Feb 16 2016 11281 POU6F2 C1832099 Wilms tumor 5 MONDO MONDO:0011112 601583 Apr 17 2020 27068 PPA2 C4310664 Sudden cardiac failure, infantile NCBI curation 617222 Jun 20 2017 27068 PPA2 C4310663 Sudden cardiac failure, alcohol-induced NCBI curation 617223 Jun 20 2017 5468 PPARG C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 5468 PPARG C0028754 Obesity NCBI curation 601665 Feb 16 2016 5468 PPARG C1836302 Carotid intimal medial thickness 1 NCBI curation 609338 Feb 16 2016 5468 PPARG C1720861 Familial partial lipodystrophy 3 NCBI curation 604367 Feb 16 2016 79717 PPCS C4748647 CARDIOMYOPATHY, DILATED, 2C OMIM 618189 618189 Nov 17 2018 5479 PPIB C1850169 Osteogenesis imperfecta type 9 259440 Feb 16 2016 23262 PPIP5K2 C5193087 DEAFNESS, AUTOSOMAL RECESSIVE 100 OMIM 618422 618422 May 10 2019 8493 PPM1D C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 8493 PPM1D C4479517 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold NCBI curation 617450 Jun 20 2017 152926 PPM1K C3554575 Maple syrup urine disease, mild variant NCBI curation 615135 Feb 16 2016 5498 PPOX C0162532 Variegate porphyria 176200 Feb 16 2016 5500 PPP1CB C4479577 Noonan syndrome-like disorder with loose anagen hair 2 NCBI curation 617506 Jun 20 2017 4659 PPP1R12A CN263373 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME OMIM 618820 618820 Mar 21 2020 84919 PPP1R15B C4225195 Microcephaly, short stature, and impaired glucose metabolism 2 NCBI curation 616817 May 26 2016 10842 PPP1R17 C0745103 Familial hypercholesterolemia 1 NCBI curation 143890 Jan 17 2020 5506 PPP1R3A C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 5515 PPP2CA C5193048 NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES OMIM 618354 618354 Mar 15 2019 5518 PPP2R1A C4225352 Mental retardation, autosomal dominant 36 NCBI curation 616362 Feb 16 2016 5519 PPP2R1B C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 5521 PPP2R2B C1858501 Spinocerebellar ataxia type 12 MONDO MONDO:0011439 604326 Apr 22 2020 55012 PPP2R3C C5193085 GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY OMIM 618419 618419 May 9 2019 55012 PPP2R3C C5193086 SPERMATOGENIC FAILURE 36 OMIM 618420 618420 May 9 2019 5528 PPP2R5D C4225354 Mental retardation, autosomal dominant 35 NCBI curation 616355 Feb 16 2016 5530 PPP3CA C4540199 Epileptic encephalopathy, infantile or early childhood 1 NCBI curation 617711 Dec 29 2019 5530 PPP3CA C4748872 ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM 618265 618265 Jan 4 2019 5538 PPT1 C1850451 Neuronal ceroid lipofuscinosis 1 MONDO MONDO:0009744 256730 Apr 22 2020 10084 PQBP1 C0796135 Renpenning syndrome 1 NCBI curation 309500 Feb 16 2016 5546 PRCC C0007134 Renal cell carcinoma, papillary, 1 NCBI curation 605074 Jul 6 2018 768206 PRCD C1864621 Retinitis pigmentosa 36 NCBI curation 610599 Feb 16 2016 59335 PRDM12 C4225308 Neuropathy, hereditary sensory and autonomic, type VIII NCBI curation 616488 Sep 4 2016 63976 PRDM16 C3809288 Left ventricular noncompaction 8 NCBI curation 615373 Feb 16 2016 11107 PRDM5 C3280011 Brittle cornea syndrome 2 NCBI curation 614170 Feb 16 2016 93166 PRDM6 C4310753 Patent ductus arteriosus 3 NCBI curation 617039 Aug 24 2016 56978 PRDM8 C4225258 Epilepsy, progressive myoclonic, 10 NCBI curation 616640 Feb 16 2016 5052 PRDX1 C1848561 Methylmalonic acidemia with homocystinuria 277400 Feb 16 2016 9581 PREPL C4479088 Myasthenic syndrome, congenital, 22 NCBI curation 616224 Jun 20 2017 5551 PRF1 C4721532 Non-Hodgkin lymphoma Human Phenotype Ontology HP:0012539 605027 Jul 6 2018 5551 PRF1 C1863727 Familial hemophagocytic lymphohistiocytosis 2 MONDO MONDO:0011337 603553 Apr 22 2020 5551 PRF1 C0002874 Aplastic anemia Human Phenotype Ontology HP:0001915 609135 Feb 16 2016 10216 PRG4 C1859690 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO MONDO:0008828 208250 Apr 22 2020 144165 PRICKLE1 C2676254 Progressive myoclonus epilepsy with ataxia NCBI curation 612437 Feb 16 2016 201973 PRIMPOL C3809464 Myopia 22, autosomal dominant NCBI curation 615420 Feb 16 2016 5566 PRKACA C4014425 Pigmented nodular adrenocortical disease, primary, 4 NCBI curation 615830 Feb 16 2016 5568 PRKACG C4015405 Platelet-type bleeding disorder 19 NCBI curation 616176 Apr 24 2016 51422 PRKAG2 C1849813 Glycogen storage disease of heart, lethal congenital NCBI curation 261740 Feb 16 2016 51422 PRKAG2 C1833236 Familial hypertrophic cardiomyopathy 6 NCBI curation 600858 Feb 16 2016 51422 PRKAG2 C0043202 Wolff-Parkinson-White pattern 194200 Feb 16 2016 5573 PRKAR1A C1864846 Pigmented nodular adrenocortical disease, primary, 1 NCBI curation 610489 Feb 16 2016 5573 PRKAR1A C2931787 Familial atrial myxoma MONDO MONDO:0009719 255960 Apr 22 2020 5573 PRKAR1A C2607929 Carney complex, type 1 NCBI curation 160980 Feb 16 2016 5573 PRKAR1A C3276228 Acrodysostosis 1 with or without hormone resistance NCBI curation 101800 Feb 16 2016 5580 PRKCD C3809928 Autoimmune lymphoproliferative syndrome, type III NCBI curation 615559 Aug 24 2016 5582 PRKCG C1854369 Spinocerebellar ataxia type 14 MONDO MONDO:0011540 605361 Apr 22 2020 5583 PRKCH C0948008 Ischemic stroke Human Phenotype Ontology HP:0002140 601367 Feb 16 2016 5589 PRKCSH C0887850 Polycystic liver disease 1 NCBI curation 174050 Jun 13 2018 5587 PRKD1 C4479250 Congenital heart defects and ectodermal dysplasia NCBI curation 617364 Jun 20 2017 5591 PRKDC C4014833 Immunodeficiency 26 with or without neurologic abnormalities NCBI curation 615966 Feb 16 2016 5592 PRKG1 C3809513 Aortic aneurysm, familial thoracic 8 NCBI curation 615436 Feb 16 2016 5071 PRKN C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 5071 PRKN C0919267 Neoplasm of ovary NCBI curation 167000 Feb 16 2016 5071 PRKN C1868675 Parkinson disease 2 NCBI curation 600116 Feb 16 2016 8575 PRKRA C2677567 Dystonia 16 612067 Feb 16 2016 5618 PRLR C3809918 Multiple fibroadenomas of the breast NCBI curation 615554 Feb 16 2016 5618 PRLR C0020514 Hyperprolactinemia Human Phenotype Ontology HP:0000870 615555 Apr 10 2018 54496 PRMT7 C4310689 Short stature, brachydactyly, intellectual developmental disability, and seizures NCBI curation 617157 Jun 20 2017 5621 PRNP C1847650 Spongiform encephalopathy with neuropsychiatric features NCBI curation 606688 Feb 16 2016 5621 PRNP C0022336 Jakob-Creutzfeldt disease 123400 Feb 16 2016 5621 PRNP C0206042 Fatal familial insomnia 600072 Feb 16 2016 5621 PRNP C0017495 Gerstmann-Straussler-Scheinker syndrome NCBI curation 137440 Feb 16 2016 5621 PRNP C1855588 Kuru, susceptibility to NCBI curation 245300 Feb 16 2016 5621 PRNP C1864112 Huntington disease-like 1 NCBI curation 603218 Feb 16 2016 5624 PROC C2674321 Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant NCBI curation 176860 Feb 16 2016 5624 PROC C2676759 Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive NCBI curation 612304 Feb 16 2016 5625 PRODH C0268529 Proline dehydrogenase deficiency 239500 Feb 16 2016 5625 PRODH C1833247 Schizophrenia 4 NCBI curation 600850 Feb 16 2016 60675 PROK2 C3552343 Hypogonadotropic hypogonadism 4 with or without anosmia NCBI curation 610628 Sep 21 2018 128674 PROKR2 C3550478 Kallmann syndrome 3 NCBI curation 244200 Feb 16 2016 8842 PROM1 C1863534 Stargardt disease 4 NCBI curation 603786 Feb 16 2016 8842 PROM1 C2677516 Retinitis pigmentosa 41 NCBI curation 612095 Feb 16 2016 8842 PROM1 C0339512 Bull's eye macular dystrophy NCBI curation 608051 Feb 16 2016 8842 PROM1 C2675210 Cone-rod dystrophy 12 NCBI curation 612657 Feb 16 2016 5626 PROP1 C0878683 Pituitary hormone deficiency, combined 2 NCBI curation 262600 Feb 16 2016 5627 PROS1 C3278211 Thrombophilia due to protein S deficiency, autosomal dominant MONDO MONDO:0012868 612336 Apr 22 2020 5627 PROS1 C3281092 Thrombophilia due to protein S deficiency, autosomal recessive NCBI curation 614514 Feb 16 2016 8858 PROZ C3151465 Protein Z deficiency NCBI curation 614024 Feb 16 2016 9129 PRPF3 C1832378 Retinitis pigmentosa 18 NCBI curation 601414 Feb 16 2016 26121 PRPF31 C1838601 Retinitis pigmentosa 11 NCBI curation 600138 Feb 16 2016 9128 PRPF4 C4014681 Retinitis pigmentosa 70 NCBI curation 615922 Feb 16 2016 24148 PRPF6 C3151434 Retinitis pigmentosa 60 NCBI curation 613983 Feb 16 2016 10594 PRPF8 C1838702 Retinitis pigmentosa 13 NCBI curation 600059 Feb 16 2016 5630 PRPH C1862939 Amyotrophic lateral sclerosis type 1 NCBI curation 105400 Feb 16 2016 5961 PRPH2 C0311338 Pigmentary retinal dystrophy 136880 Feb 16 2016 5961 PRPH2 C4085590 Cone-rod dystrophy NCBI curation Feb 16 2016 5961 PRPH2 C4551999 Patterned dystrophy of retinal pigment epithelium 169150 Feb 16 2016 5961 PRPH2 C2751290 Choroidal dystrophy, central areolar 2 NCBI curation 613105 Feb 16 2016 5961 PRPH2 C1842475 Retinitis pigmentosa 7 NCBI curation 608133 Feb 16 2016 5961 PRPH2 C1842914 Macular dystrophy, vitelliform, adult-onset NCBI curation 608161 Feb 16 2016 5631 PRPS1 C1970827 Phosphoribosylpyrophosphate synthetase superactivity NCBI curation 300661 Feb 16 2016 5631 PRPS1 C1844677 Deafness, X-linked 1 NCBI curation 304500 Aug 24 2016 5631 PRPS1 C0796028 Arts syndrome 301835 Feb 16 2016 5631 PRPS1 C0236038 Hereditary hearing loss and deafness NCBI curation Feb 16 2016 5631 PRPS1 C1839566 Charcot-Marie-Tooth disease, X-linked recessive, type 5 NCBI curation 311070 Feb 16 2016 112476 PRRT2 C4552000 Episodic kinesigenic dyskinesia 1 NCBI curation 128200 Mar 30 2020 112476 PRRT2 C1853995 Seizures, benign familial infantile, 2 NCBI curation 605751 Feb 16 2016 112476 PRRT2 C1865926 Infantile convulsions and choreoathetosis MONDO MONDO:0011178 602066 Apr 17 2020 5396 PRRX1 C0265242 Agnathia-otocephaly complex MONDO MONDO:0008740 202650 Apr 22 2020 5644 PRSS1 C0238339 Hereditary pancreatitis NCBI curation 167800 Feb 16 2016 8492 PRSS12 C1855304 Mental retardation, autosomal recessive 1 NCBI curation 249500 May 26 2016 5645 PRSS2 C0238339 Hereditary pancreatitis NCBI curation 167800 Feb 16 2016 646960 PRSS56 C3150757 Microphthalmia, isolated 6 NCBI curation 613517 Feb 16 2016 58497 PRUNE1 C4479566 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies NCBI curation 617481 Jun 20 2017 57716 PRX C3540453 Charcot-Marie-Tooth disease, demyelinating, type 4F NCBI curation 614895 Jul 28 2019 57716 PRX C0011195 Dejerine-Sottas disease NCBI curation 145900 Feb 16 2016 9081 PRY C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 442862 PRY2 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 5660 PSAP C1864651 Gaucher disease, atypical, due to saposin C deficiency NCBI curation 610539 Feb 16 2016 5660 PSAP C0268262 Sphingolipid activator protein 1 deficiency 249900 Feb 16 2016 5660 PSAP C2673635 Combined saposin deficiency NCBI curation 611721 Feb 16 2016 5660 PSAP C2673266 Krabbe disease, atypical, due to saposin A deficiency MONDO MONDO:0012720 611722 Apr 22 2020 29968 PSAT1 C4015019 Neu-laxova syndrome 2 NCBI curation 616038 Feb 16 2016 29968 PSAT1 C1970253 Phosphoserine aminotransferase deficiency NCBI curation 610992 Feb 16 2016 5663 PSEN1 C1843013 Alzheimer disease, type 3 NCBI curation 607822 Feb 16 2016 5663 PSEN1 C3151038 Acne inversa, familial, 3 NCBI curation 613737 Feb 16 2016 5663 PSEN1 C3160720 Cardiomyopathy, dilated, 1u NCBI curation 613694 Feb 16 2016 5663 PSEN1 C0338451 Frontotemporal dementia Human Phenotype Ontology HP:0002145 600274 Feb 16 2016 5663 PSEN1 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 5663 PSEN1 C0236642 Pick's disease 172700 Feb 16 2016 5664 PSEN2 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 5664 PSEN2 C3150958 Dilated cardiomyopathy 1V NCBI curation 613697 Feb 16 2016 5664 PSEN2 C1847200 Alzheimer disease, type 4 NCBI curation 606889 Feb 16 2016 55851 PSENEN C3151037 Acne inversa, familial, 2 NCBI curation 613736 Feb 16 2016 5687 PSMA6 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 5692 PSMB4 C4747850 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 OMIM 617591 617591 Jul 19 2018 5696 PSMB8 C4746851 Proteasome-associated autoinflammatory syndrome 1 NCBI curation 256040 Mar 13 2020 5698 PSMB9 C4747850 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 OMIM 617591 617591 Jul 19 2018 29893 PSMC3IP C3280471 Ovarian dysgenesis 3 NCBI curation 614324 Feb 16 2016 5718 PSMD12 C4479599 Stankiewicz-Isidor syndrome NCBI curation 617516 Jun 20 2017 5723 PSPH C1291463 Deficiency of phosphoserine phosphatase NCBI curation 614023 Feb 16 2016 9051 PSTPIP1 C1858361 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO MONDO:0011462 604416 Apr 17 2020 5727 PTCH1 C0004779 Gorlin syndrome NCBI curation 109400 Feb 16 2016 5727 PTCH1 C1835820 Holoprosencephaly 7 NCBI curation 610828 Feb 16 2016 5727 PTCH1 C2751544 BCC1 MONDO MONDO:0011556 605462 Apr 17 2020 5727 PTCH1 C2751544 BCC1 OMIM 605462 605462 Apr 17 2020 8643 PTCH2 C2751544 BCC1 MONDO MONDO:0011556 605462 Apr 17 2020 8643 PTCH2 C2751544 BCC1 OMIM 605462 605462 Apr 17 2020 8643 PTCH2 C0004779 Gorlin syndrome NCBI curation 109400 Feb 16 2016 8643 PTCH2 C0025149 Medulloblastoma Human Phenotype Ontology HP:0002885 155255 Feb 16 2016 139411 PTCHD1 C1510586 Autism spectrum disorder MONDO MONDO:0005258 Jul 6 2018 139411 PTCHD1 C0795888 Autism, susceptibility to, X-linked 4 NCBI curation 300830 Aug 24 2016 9791 PTDSS1 C0432269 Lenz-Majewski hyperostosis syndrome 151050 Feb 16 2016 5728 PTEN C1854416 Macrocephaly/autism syndrome NCBI curation 605309 Feb 16 2016 5728 PTEN C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 5728 PTEN C1959582 PTEN hamartoma tumor syndrome NCBI curation 601728 Feb 16 2016 5728 PTEN CN072330 Cowden syndrome 1 NCBI curation 158350 Feb 16 2016 5728 PTEN C2751642 Glioma susceptibility 2 NCBI curation 613028 Feb 16 2016 5728 PTEN C3551915 Meningioma, familial NCBI curation 607174 Feb 16 2016 256297 PTF1A C4014737 Pancreatic agenesis 2 NCBI curation 615935 Feb 16 2016 256297 PTF1A C1836780 Diabetes mellitus, permanent neonatal, with cerebellar agenesis NCBI curation 609069 Feb 16 2016 5729 PTGDR C1846534 Asthma-related traits, susceptibility to, 1 NCBI curation 607277 Aug 24 2016 5732 PTGER2 C1859648 Asthma, nasal polyps, and aspirin intolerance NCBI curation 208550 Feb 16 2016 5740 PTGIS C0085580 Essential hypertension 145500 Feb 16 2016 5741 PTH C1832648 Familial isolated hypoparathyroidism Orphanet ORPHA2238 146200 Mar 23 2020 5745 PTH1R C1838779 Eiken skeletal dysplasia NCBI curation 600002 Feb 16 2016 5745 PTH1R C0265295 Metaphyseal chondrodysplasia, Jansen type 156400 Feb 16 2016 5745 PTH1R C1852222 Failure of tooth eruption, primary NCBI curation 125350 Feb 16 2016 5745 PTH1R C1859148 Chondrodysplasia Blomstrand type 215045 Feb 16 2016 5744 PTHLH C3150644 Brachydactyly type E2 NCBI curation 613382 Feb 16 2016 5770 PTPN1 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 5781 PTPN11 C0028326 Noonan syndrome OMIM phenotypic series PS163950 Feb 16 2016 5781 PTPN11 C0410530 Metachondromatosis 156250 Feb 16 2016 5781 PTPN11 C4551484 LEOPARD syndrome 1 NCBI curation 151100 Feb 16 2016 5781 PTPN11 C4551602 Noonan syndrome 1 NCBI curation 163950 Apr 27 2020 5781 PTPN11 C0349639 Juvenile myelomonocytic leukemia Human Phenotype Ontology HP:0012209 607785 Feb 16 2016 5782 PTPN12 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 5784 PTPN14 C3150875 Choanal atresia and lymphedema NCBI curation 613611 Feb 16 2016 26191 PTPN22 C0011854 Diabetes mellitus type 1 NCBI curation 222100 Feb 16 2016 26191 PTPN22 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 Feb 16 2016 26191 PTPN22 C0003873 Rheumatoid arthritis Human Phenotype Ontology HP:0001370 180300 Jul 22 2019 25930 PTPN23 CN280970 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY OMIM 618890 618890 May 30 2020 5788 PTPRC C1837028 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive NCBI curation 608971 Feb 16 2016 5788 PTPRC C1835407 Hepatitis c virus, susceptibility to NCBI curation 609532 Feb 16 2016 5792 PTPRF C4014918 Breasts and/or nipples, aplasia or hypoplasia of, 2 NCBI curation 616001 Feb 16 2016 5795 PTPRJ C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 5800 PTPRO C3280100 Nephrotic syndrome, type 6 NCBI curation 614196 Feb 16 2016 374462 PTPRQ C4540024 DEAFNESS, AUTOSOMAL DOMINANT 73 OMIM 617663 617663 Sep 14 2017 374462 PTPRQ C3150654 Deafness, autosomal recessive 84 NCBI curation 613391 Feb 16 2016 51651 PTRH2 C4015728 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset NCBI curation 616263 Feb 16 2016 5805 PTS C0878676 BH4-deficient hyperphenylalaninemia A MONDO MONDO:0009863 261640 Apr 22 2020 22827 PUF60 C3810023 Verheij syndrome NCBI curation 615583 Feb 16 2016 9698 PUM1 C4693672 SPINOCEREBELLAR ATAXIA 47 OMIM 617931 617931 May 3 2018 5813 PURA C4015357 Mental retardation, autosomal dominant 31 NCBI curation 616158 Feb 16 2016 80324 PUS1 C4551958 Myopathy, lactic acidosis, and sideroblastic anemia 1 NCBI curation 600462 Feb 16 2016 83480 PUS3 C4310745 Mental retardation, autosomal recessive 55 NCBI curation 617051 Aug 24 2016 54517 PUS7 C5193039 INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE OMIM 618342 618342 Mar 7 2019 145624 PWAR1 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 791114 PWRN1 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 7837 PXDN C3151617 Anterior segment dysgenesis 7 NCBI curation 269400 Jun 20 2017 5831 PYCR1 C2751987 Autosomal recessive cutis laxa type 2B NCBI curation 612940 Feb 16 2016 5831 PYCR1 C3280799 Autosomal recessive cutis laxa type 3B NCBI curation 614438 Feb 16 2016 29920 PYCR2 C4225332 Leukodystrophy, hypomyelinating, 10 NCBI curation 616420 Feb 16 2016 5836 PYGL C0017925 Glycogen storage disease, type VI NCBI curation 232700 Feb 16 2016 5837 PYGM C0017924 Glycogen storage disease, type V 232600 Feb 16 2016 79912 PYROXD1 C4310645 Myopathy, myofibrillar, 8 NCBI curation 617258 Jun 20 2017 5859 QARS1 C4014239 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy NCBI curation 615760 Feb 16 2016 5860 QDPR C0268465 Dihydropteridine reductase deficiency 261630 Feb 16 2016 54870 QRICH1 C4693824 VERVERI-BRADY SYNDROME OMIM 617982 617982 May 17 2018 84074 QRICH2 C5193038 SPERMATOGENIC FAILURE 35 OMIM 618341 618341 Feb 28 2019 55278 QRSL1 CN272920 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 OMIM 618835 618835 Apr 12 2020 9230 RAB11B C4540498 NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER OMIM 617807 617807 Dec 17 2017 22931 RAB18 C3280203 Warburg micro syndrome 3 NCBI curation 614222 Feb 16 2016 51715 RAB23 C4551510 Carpenter syndrome 1 NCBI curation 201000 Feb 16 2016 5873 RAB27A C1868679 Griscelli syndrome type 2 607624 Feb 16 2016 9364 RAB28 C3809299 Cone-rod dystrophy 18 NCBI curation 615374 Feb 16 2016 83452 RAB33B C3714896 Smith-McCort dysplasia 2 NCBI curation 615222 Oct 23 2016 116442 RAB39B C2749007 Chromosome Xq28 duplication syndrome NCBI curation 300815 Feb 16 2016 116442 RAB39B C1846038 Mental retardation, X-linked 72 NCBI curation 300271 Feb 16 2016 116442 RAB39B C0796195 Early-onset parkinsonism-intellectual disability syndrome MONDO MONDO:0010709 311510 Apr 17 2020 22930 RAB3GAP1 C1838625 Warburg micro syndrome 1 NCBI curation 600118 Feb 16 2016 25782 RAB3GAP2 C3280214 Warburg micro syndrome 2 NCBI curation 614225 Feb 16 2016 25782 RAB3GAP2 C0796037 Cataract-intellectual disability-hypogonadism syndrome MONDO MONDO:0008929 212720 Apr 17 2020 7879 RAB7A C1833219 Charcot-Marie-Tooth disease type 2B MONDO MONDO:0010949 600882 Apr 22 2020 285282 RABL3 C5231459 PANCREATIC CANCER, SUSCEPTIBILITY TO, 5 OMIM 618680 618680 Nov 28 2019 5879 RAC1 C4540321 Intellectual disability, autosomal dominant 48 MONDO MONDO:0030913 617751 Apr 17 2020 5880 RAC2 C1842398 Neutrophil immunodeficiency syndrome NCBI curation 608203 Feb 16 2016 5881 RAC3 C5231416 NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES OMIM 618577 618577 Sep 15 2019 5885 RAD21 C1969653 Mungan syndrome 611376 Feb 16 2016 5885 RAD21 C3553517 Cornelia de Lange syndrome 4 NCBI curation 614701 Feb 16 2016 5885 RAD21 C0270972 De Lange syndrome NCBI curation Feb 16 2016 10111 RAD50 C2751318 Nijmegen breakage syndrome-like disorder NCBI curation 613078 Feb 16 2016 5888 RAD51 C4284093 Fanconi anemia, complementation group R NCBI curation 617244 Jun 20 2017 5888 RAD51 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 5888 RAD51 C3281089 Mirror movements 2 NCBI curation 614508 Feb 16 2016 5889 RAD51C C3150659 Breast-ovarian cancer, familial 3 NCBI curation 613399 Feb 16 2016 5889 RAD51C C3150653 Fanconi anemia, complementation group O NCBI curation 613390 Feb 16 2016 5892 RAD51D C3280345 Breast-ovarian cancer, familial 4 NCBI curation 614291 Feb 16 2016 25788 RAD54B C4721532 Non-Hodgkin lymphoma Human Phenotype Ontology HP:0012539 605027 Jul 6 2018 25788 RAD54B C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 8438 RAD54L C4721532 Non-Hodgkin lymphoma Human Phenotype Ontology HP:0012539 605027 Jul 6 2018 8438 RAD54L C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 5894 RAF1 C1969056 LEOPARD syndrome 2 NCBI curation 611554 Feb 16 2016 5894 RAF1 C4014656 Cardiomyopathy, dilated, 1NN NCBI curation 615916 Feb 16 2016 5894 RAF1 C1969057 Noonan syndrome 5 611553 Feb 16 2016 5896 RAG1 C1832322 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO MONDO:0011086 601457 Apr 22 2020 5896 RAG1 C1835931 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity NCBI curation 609889 Feb 16 2016 5896 RAG1 C2700553 Histiocytic medullary reticulosis NCBI curation 603554 Feb 16 2016 5896 RAG1 C2673536 Combined cellular and humoral immune defects with granulomas NCBI curation 233650 Feb 16 2016 5897 RAG2 C2673536 Combined cellular and humoral immune defects with granulomas NCBI curation 233650 Feb 16 2016 5897 RAG2 C2700553 Histiocytic medullary reticulosis NCBI curation 603554 Feb 16 2016 5897 RAG2 C1832322 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO MONDO:0011086 601457 Apr 22 2020 10743 RAI1 C0795864 Smith-Magenis syndrome 182290 Feb 16 2016 253959 RALGAPA1 CN263344 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION OMIM 618797 618797 Mar 5 2020 5903 RANBP2 C2675556 Encephalopathy, acute, infection-induced, 3, suceptibility to NCBI curation 608033 Feb 16 2016 9693 RAPGEF2 C4748080 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 OMIM 618075 618075 Aug 3 2018 5913 RAPSN C4225367 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency NCBI curation 616326 Feb 16 2016 5913 RAPSN C4760576 FETAL AKINESIA DEFORMATION SEQUENCE 2 OMIM 618388 618388 Apr 13 2019 5914 RARA C0023487 Acute promyelocytic leukemia Human Phenotype Ontology HP:0004836 612376 Feb 16 2016 5915 RARB C3809803 Microphthalmia, syndromic 12 NCBI curation 615524 Feb 16 2016 5917 RARS1 C4015323 Leukodystrophy, hypomyelinating, 9 NCBI curation 616140 Feb 16 2016 57038 RARS2 C1969084 Pontocerebellar hypoplasia type 6 611523 Feb 16 2016 5921 RASA1 C4747394 Capillary malformation-arteriovenous malformation 1 NCBI curation 608354 Jan 2 2020 5921 RASA1 C2751544 BCC1 MONDO MONDO:0011556 605462 Apr 17 2020 5921 RASA1 C2751544 BCC1 OMIM 605462 605462 Apr 17 2020 10125 RASGRP1 C5231402 IMMUNODEFICIENCY 64 OMIM 618534 618534 Aug 16 2019 10235 RASGRP2 C4014584 Platelet-type bleeding disorder 18 NCBI curation 615888 Apr 24 2016 30062 RAX CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 30062 RAX C1970237 Microphthalmia, isolated 3 NCBI curation 611038 Feb 16 2016 84839 RAX2 C1835865 Cone-rod dystrophy 11 NCBI curation 610381 Feb 16 2016 84839 RAX2 C3151060 Age-related macular degeneration 6 NCBI curation 613757 Feb 16 2016 5925 RB1 C0029463 Osteosarcoma Human Phenotype Ontology HP:0002669 259500 Feb 16 2016 5925 RB1 C0035335 Retinoblastoma Human Phenotype Ontology HP:0009919 180200 Feb 16 2016 5925 RB1 C0005684 Urinary bladder cancer MONDO MONDO:0001187 109800 May 6 2020 5925 RB1 C0149925 Small cell lung cancer Orphanet ORPHA70573 182280 Apr 4 2018 5925 RB1 C0149925 Small cell lung cancer Human Phenotype Ontology HP:0030357 182280 Apr 4 2018 9821 RB1CC1 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 5932 RBBP8 C1847572 Seckel syndrome 2 NCBI curation 606744 Feb 16 2016 5932 RBBP8 C0796063 Microcephaly with mental retardation and digital anomalies NCBI curation 251255 Feb 16 2016 10616 RBCK1 C4014605 Polyglucosan body myopathy 1 with or without immunodeficiency NCBI curation 615895 Feb 16 2016 8241 RBM10 C1839463 TARP syndrome 311900 Feb 16 2016 10137 RBM12 C4539944 Schizophrenia 19 NCBI curation 617629 Nov 14 2018 282996 RBM20 C2750995 Dilated cardiomyopathy 1DD NCBI curation CN035446 613172 Feb 16 2016 282996 RBM20 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 55131 RBM28 C2677535 Alopecia, neurologic defects, and endocrinopathy syndrome NCBI curation 612079 Feb 16 2016 9939 RBM8A C0175703 Radial aplasia-thrombocytopenia syndrome NCBI curation 274000 Feb 16 2016 27316 RBMX C1846145 Syndromic X-linked intellectual disability Shashi type MONDO MONDO:0010277 300238 Apr 17 2020 5940 RBMY1A1 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 5949 RBP3 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 5949 RBP3 C3715216 Retinitis pigmentosa 66 NCBI curation 615233 Feb 16 2016 5950 RBP4 C4225330 Microphthalmia, isolated, with coloboma 10 NCBI curation 616428 Feb 16 2016 5950 RBP4 C3554593 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome NCBI curation 615147 Feb 16 2016 3516 RBPJ C3553748 Adams-Oliver syndrome 3 NCBI curation 614814 Feb 16 2016 55213 RCBTB1 C4310680 Retinal dystrophy with or without extraocular anomalies NCBI curation 617175 Jun 20 2017 343035 RD3 C1857743 Leber congenital amaurosis 12 NCBI curation 610612 Feb 16 2016 51109 RDH11 C4015242 Retinal dystrophy, juvenile cataracts, and short stature syndrome NCBI curation 616108 Feb 16 2016 145226 RDH12 C2675186 Leber congenital amaurosis 13 NCBI curation 612712 Feb 16 2016 5959 RDH5 C0311338 Pigmentary retinal dystrophy 136880 Feb 16 2016 5962 RDX C1970239 Deafness, autosomal recessive 24 NCBI curation 611022 Feb 16 2016 9401 RECQL4 C5203410 Rothmund-Thomson syndrome type 2 NCBI curation 268400 Nov 7 2019 9401 RECQL4 C1849453 Rapadilino syndrome 266280 Feb 16 2016 9401 RECQL4 C0265308 Baller-Gerold syndrome 218600 Feb 16 2016 65055 REEP1 C1853247 Spastic paraplegia 31, autosomal dominant NCBI curation 610250 Feb 16 2016 65055 REEP1 C3553656 Distal hereditary motor neuronopathy type 5B NCBI curation 614751 Feb 16 2016 51308 REEP2 C3810160 Spastic paraplegia 72, autosomal recessive NCBI curation 615625 Feb 16 2016 92840 REEP6 C4310626 Retinitis pigmentosa 77 NCBI curation 617304 Jun 20 2017 5970 RELA C4748997 MUCOCUTANEOUS ULCERATION, CHRONIC OMIM 618287 618287 Jan 26 2019 5971 RELB C4539811 IMMUNODEFICIENCY 53 OMIM 617585 617585 Jul 26 2017 5649 RELN C4225327 Epilepsy, familial temporal lobe, 7 NCBI curation 616436 Feb 16 2016 5649 RELN C4551957 Familial temporal lobe epilepsy 1 NCBI curation 600512 Dec 26 2019 5649 RELN C0796089 Norman-Roberts syndrome MONDO MONDO:0009760 257320 Apr 22 2020 84957 RELT C5193069 Amelogenesis imperfecta, type 3c MONDO MONDO:0032717 618386 May 28 2020 5972 REN C2751310 Hyperuricemic nephropathy, familial juvenile, 2 NCBI curation 613092 Feb 16 2016 5972 REN C0266313 Renal dysplasia Human Phenotype Ontology HP:0000110 267430 Feb 16 2016 85021 REPS1 C4693583 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 OMIM 617916 617916 Mar 29 2018 473 RERE C4310772 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart NCBI curation 616975 Jan 20 2018 5978 REST C3887929 Deafness, autosomal dominant 27 NCBI curation 612431 Feb 16 2016 5978 REST C3891301 Wilms tumor 6 NCBI curation 616806 Feb 16 2016 5978 REST C4539942 FIBROMATOSIS, GINGIVAL, 5 OMIM 617626 617626 Aug 17 2017 5979 RET C0025269 Multiple endocrine neoplasia, type 2b NCBI curation 162300 Feb 16 2016 5979 RET C0025268 Multiple endocrine neoplasia, type 2a NCBI curation 171400 Feb 16 2016 5979 RET C0031511 Pheochromocytoma Human Phenotype Ontology HP:0002666 171300 Feb 16 2016 5979 RET C1275808 Congenital central hypoventilation NCBI curation 209880 Feb 16 2016 5979 RET C1833921 Familial medullary thyroid carcinoma NCBI curation 155240 Feb 16 2016 5979 RET C3888239 Hirschsprung disease 1 NCBI curation 142623 Feb 16 2016 56729 RETN C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 54463 RETREG1 C2751092 Hereditary sensory and autonomic neuropathy type IIB NCBI curation 613115 Feb 16 2016 54463 RETREG1 C2752089 Hereditary sensory and autonomic neuropathy type IIA NCBI curation 201300 Feb 16 2016 5981 RFC1 C3281223 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome NCBI curation 614575 Feb 16 2016 91869 RFT1 C2677590 Congenital disorder of glycosylation type 1N NCBI curation 612015 Feb 16 2016 55159 RFWD3 C4521564 FANCONI ANEMIA, COMPLEMENTATION GROUP W OMIM 617784 617784 Nov 30 2017 5993 RFX5 C2931418 Bare lymphocyte syndrome 2 NCBI curation 209920 Dec 25 2017 222546 RFX6 C2748662 Mitchell-Riley syndrome NCBI curation 615710 Feb 16 2016 8625 RFXANK C2931418 Bare lymphocyte syndrome 2 NCBI curation 209920 Dec 25 2017 5994 RFXAP C2931418 Bare lymphocyte syndrome 2 NCBI curation 209920 Dec 25 2017 5995 RGR C3151068 Retinitis pigmentosa 44 NCBI curation 613769 Feb 16 2016 8490 RGS5 C0085580 Essential hypertension 145500 Feb 16 2016 8787 RGS9 C1842073 Bradyopsia Human Phenotype Ontology HP:0030511 608415 Apr 4 2018 388531 RGS9BP C1842073 Bradyopsia Human Phenotype Ontology HP:0030511 608415 Apr 4 2018 6005 RHAG C1861455 Overhydrated hereditary stomatocytosis MONDO MONDO:0008493 185000 Apr 17 2020 6005 RHAG C1849387 Rh-null, regulator type NCBI curation 268150 Feb 16 2016 79651 RHBDF2 C1835664 Palmoplantar keratoderma-esophageal carcinoma syndrome MONDO MONDO:0007856 148500 Apr 17 2020 6006 RHCE C4693796 RH-NULL, AMORPH TYPE OMIM 617970 617970 May 16 2018 6010 RHO C3151001 Retinitis pigmentosa 4 NCBI curation 613731 Feb 16 2016 6010 RHO C1864869 Congenital stationary night blindness, autosomal dominant 1 NCBI curation 610445 Feb 16 2016 6010 RHO C0311338 Pigmentary retinal dystrophy 136880 Feb 16 2016 387 RHOA C5231477 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES OMIM 618727 618727 Jan 4 2020 23221 RHOBTB2 C4693899 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 OMIM 618004 618004 Jun 6 2018 399 RHOH C4749042 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM 618307 618307 Feb 3 2019 57589 RIC1 C5231492 CATIFA SYNDROME OMIM 618761 618761 Feb 8 2020 22999 RIMS1 C1863634 Cone-rod dystrophy 7 NCBI curation 603649 Feb 16 2016 54453 RIN2 C2751321 Macrocephaly, alopecia, cutis laxa, and scoliosis NCBI curation 613075 Feb 16 2016 60561 RINT1 C5231437 INFANTILE LIVER FAILURE SYNDROME 3 OMIM 618641 618641 Oct 26 2019 8737 RIPK1 CN280858 AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY OMIM 618852 618852 Apr 30 2020 8737 RIPK1 C4748212 Immunodeficiency 57 MONDO MONDO:0020849 618108 May 28 2020 54101 RIPK4 C1849718 Bartsocas-Papas syndrome MONDO MONDO:0009901 263650 Apr 22 2020 54101 RIPK4 C0406733 Curly hair, ankyloblepharon, nail dysplasia syndrome 214350 Feb 16 2016 9750 RIPOR2 C4225298 Deafness, autosomal recessive 104 NCBI curation 616515 Feb 16 2016 134701 RIPPLY2 C4225279 Spondylocostal dysostosis 6, autosomal recessive NCBI curation 616566 Feb 16 2016 6016 RIT1 C3809233 Noonan syndrome 8 NCBI curation 615355 Feb 16 2016 6017 RLBP1 C1843816 Bothnia retinal dystrophy NCBI curation 607475 Feb 16 2016 6017 RLBP1 C0311338 Pigmentary retinal dystrophy 136880 Feb 16 2016 6017 RLBP1 C1843815 Newfoundland rod-cone dystrophy NCBI curation 607476 Feb 16 2016 51132 RLIM C4283894 Mental retardation, X-linked 61 NCBI curation 300978 Aug 24 2016 55005 RMND1 C3554067 Combined oxidative phosphorylation deficiency 11 NCBI curation 614922 Feb 16 2016 6023 RMRP C0220748 Metaphyseal chondrodysplasia, McKusick type 250250 Feb 16 2016 6023 RMRP C1834821 Metaphyseal dysplasia without hypotrichosis 250460 Feb 16 2016 6023 RMRP C4551965 Anauxetic dysplasia 1 NCBI curation 607095 Jul 2 2017 246243 RNASEH1 C4225312 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 NCBI curation 616479 Aug 24 2016 10535 RNASEH2A C1835912 Aicardi Goutieres syndrome 4 NCBI curation 610333 Feb 16 2016 79621 RNASEH2B C3489724 Aicardi Goutieres syndrome 2 NCBI curation 610181 Feb 16 2016 84153 RNASEH2C C1835916 Aicardi Goutieres syndrome 3 NCBI curation 610329 Feb 16 2016 6041 RNASEL C4722327 Prostate cancer, hereditary, 1 NCBI curation 601518 Feb 16 2016 8635 RNASET2 C2751843 Leukoencephalopathy, cystic, without megalencephaly NCBI curation 612951 Feb 16 2016 7737 RNF113A C4225420 Trichothiodystrophy 5, nonphotosensitive NCBI curation 300953 Feb 16 2016 54941 RNF125 C4015710 Tenorio syndrome NCBI curation 616260 Feb 16 2016 11342 RNF13 C5193065 Rnf13-related severe early-onset epileptic encephalopathy MONDO MONDO:0034106 618379 Apr 17 2020 11236 RNF139 C3160732 Renal cell carcinoma, nonpapillary NCBI curation 144700 Feb 16 2016 165918 RNF168 C2677792 Riddle syndrome NCBI curation 611943 Feb 16 2016 81790 RNF170 C1837015 Ataxia, sensory, autosomal dominant NCBI curation 608984 Feb 16 2016 285498 RNF212 C2677576 Recombination rate quantitative trait locus 1 NCBI curation 612042 Feb 16 2016 57674 RNF213 C1846689 Moyamoya disease 2 NCBI curation 607151 Feb 16 2016 54476 RNF216 C1859305 Gordon Holmes syndrome NCBI curation 212840 Oct 28 2016 54894 RNF43 C4310714 Sessile serrated polyposis cancer syndrome NCBI curation 617108 Jun 20 2017 6049 RNF6 C0546837 Malignant tumor of esophagus NCBI curation 133239 Feb 16 2016 55599 RNPC3 C4748435 Isolated growth hormone deficiency, type 5 MONDO MONDO:0032569 618160 May 28 2020 100151683 RNU4ATAC C1859452 Osteodysplastic primordial dwarfism, type 1 210710 Feb 16 2016 100151683 RNU4ATAC C1846059 Roifman syndrome 616651 Feb 16 2016 6092 ROBO2 C1970483 Vesicoureteral reflux 2 NCBI curation 610878 Feb 16 2016 64221 ROBO3 C4551964 Gaze palsy, familial horizontal, with progressive scoliosis 1 NCBI curation 607313 Jan 2 2020 54538 ROBO4 C5193127 AORTIC VALVE DISEASE 3 OMIM 618496 618496 Jul 11 2019 79641 ROGDI C0406740 Kohlschutter's syndrome 226750 Feb 16 2016 6094 ROM1 C1842475 Retinitis pigmentosa 7 NCBI curation 608133 Feb 16 2016 6094 ROM1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 Feb 16 2016 4919 ROR1 C4539997 DEAFNESS, AUTOSOMAL RECESSIVE 108 OMIM 617654 617654 Sep 1 2017 4920 ROR2 C1862112 Brachydactyly type B1 MONDO MONDO:0007220 113000 Apr 17 2020 4920 ROR2 C1849334 Robinow syndrome, autosomal recessive NCBI curation 268310 Feb 16 2016 6095 RORA C4748041 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA OMIM 618060 618060 Jul 29 2018 6096 RORB C5193050 Epilepsy, idiopathic generalized, susceptibility to, 15 NCBI curation 618357 Mar 18 2019 6097 RORC C4225266 Immunodeficiency 42 NCBI curation 616622 Feb 16 2016 6101 RP1 C0220701 Retinitis pigmentosa 1 180100 Feb 16 2016 94137 RP1L1 C3150833 Occult macular dystrophy NCBI curation 613587 Feb 16 2016 94137 RP1L1 CN263396 RETINITIS PIGMENTOSA 88 OMIM 618826 618826 Mar 28 2020 6102 RP2 C2681923 Retinitis pigmentosa 2 NCBI curation 312600 Feb 16 2016 6100 RP9 C1867300 Retinitis pigmentosa 9 NCBI curation 180104 Feb 16 2016 6121 RPE65 C3151086 Retinitis pigmentosa 20 NCBI curation 613794 Feb 16 2016 6121 RPE65 C5231465 RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT OMIM 618697 618697 Dec 13 2019 6121 RPE65 C1859844 Leber congenital amaurosis 2 NCBI curation 204100 Feb 16 2016 6103 RPGR C2749137 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness NCBI curation 300455 Feb 16 2016 6103 RPGR C1844776 Cone-rod dystrophy, X-linked 1 NCBI curation 304020 Feb 16 2016 6103 RPGR C1845667 Retinitis pigmentosa 15 NCBI curation 300029 Feb 16 2016 6103 RPGR C3151784 Macular degeneration, X-linked atrophic NCBI curation 300834 Feb 16 2016 57096 RPGRIP1 C2750720 Cone-rod dystrophy 13 NCBI curation 608194 Feb 16 2016 57096 RPGRIP1 C1854260 Leber congenital amaurosis 6 NCBI curation 613826 Feb 16 2016 23322 RPGRIP1L C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 23322 RPGRIP1L C1969053 Joubert syndrome 7 NCBI curation 611560 Feb 16 2016 23322 RPGRIP1L CN119610 Nephronophthisis 8 NCBI curation Feb 16 2016 23322 RPGRIP1L C1969052 Meckel syndrome, type 5 MONDO MONDO:0012695 611561 May 9 2020 23322 RPGRIP1L C1857662 Joubert syndrome with hepatic defect MONDO MONDO:0008996 216360 Apr 17 2020 22934 RPIA C1291609 Deficiency of ribose-5-phosphate isomerase 608611 Feb 16 2016 6134 RPL10 C3275438 Autism, susceptibility to, X-linked 5 NCBI curation 300847 Feb 16 2016 6134 RPL10 C4478383 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 OMIM 300998 300998 Jul 7 2017 6134 RPL10 C1510586 Autism spectrum disorder MONDO MONDO:0005258 Jul 6 2018 6135 RPL11 C2675512 Diamond-Blackfan anemia 7 NCBI curation 612562 Feb 16 2016 6137 RPL13 C5231478 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE OMIM 618728 618728 Jan 8 2020 6138 RPL15 C3809888 Diamond-Blackfan anemia 12 NCBI curation 615550 Feb 16 2016 6141 RPL18 C5193020 Diamond-Blackfan anemia 18 NCBI curation 618310 Mar 8 2019 6144 RPL21 C4014563 Hypotrichosis 12 NCBI curation 615885 Feb 16 2016 6154 RPL26 C3554042 Diamond-Blackfan anemia 11 NCBI curation 614900 Feb 16 2016 6155 RPL27 C4479424 Diamond-Blackfan anemia 16 NCBI curation 617408 Jun 20 2017 11224 RPL35 C5193021 Diamond-Blackfan anemia 19 NCBI curation 618312 Mar 8 2019 6165 RPL35A C2675859 Diamond-Blackfan anemia 5 NCBI curation 612528 Feb 16 2016 6125 RPL5 C2931850 Diamond-Blackfan anemia 6 NCBI curation 612561 Feb 25 2019 6204 RPS10 C2750081 Diamond-Blackfan anemia 9 NCBI curation 613308 Feb 16 2016 6208 RPS14 C0740302 Chromosome 5q deletion syndrome MONDO MONDO:0007925 153550 Apr 22 2020 6210 RPS15A C5193022 Diamond-Blackfan anemia 20 NCBI curation 618313 Mar 8 2019 6218 RPS17 C2675860 Diamond-Blackfan anemia 4 NCBI curation 612527 Feb 16 2016 6223 RPS19 C2676137 Diamond-Blackfan anemia 1 NCBI curation 105650 Feb 16 2016 6228 RPS23 C4479431 MacInnes syndrome NCBI curation 617412 Jun 20 2017 6229 RPS24 C1857719 Diamond-Blackfan anemia 3 610629 Feb 16 2016 6231 RPS26 C2750080 Diamond-Blackfan anemia 10 NCBI curation 613309 Feb 16 2016 6232 RPS27 C4479428 Diamond-Blackfan anemia 17 NCBI curation 617409 Jun 20 2017 6234 RPS28 C4225411 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis NCBI curation 606164 Aug 24 2016 6235 RPS29 C4014641 Diamond-Blackfan anemia 13 NCBI curation 615909 Feb 16 2016 140032 RPS4Y2 C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 6197 RPS6KA3 C0796225 Mental retardation, X-linked 19 NCBI curation 300844 Feb 16 2016 6197 RPS6KA3 C0265252 Coffin-Lowry syndrome 303600 Feb 16 2016 6201 RPS7 C2675511 Diamond-Blackfan anemia 8 NCBI curation 612563 Feb 16 2016 3921 RPSA C0685889 Asplenia, isolated congenital NCBI curation 271400 Aug 24 2016 22800 RRAS2 C5231432 NOONAN SYNDROME 12 OMIM 618624 618624 Oct 17 2019 50484 RRM2B C2749861 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy NCBI curation 612075 Feb 16 2016 50484 RRM2B C2751319 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 NCBI curation 613077 Feb 16 2016 6247 RS1 C3714753 Juvenile retinoschisis 312700 Feb 16 2016 89765 RSPH1 C3809634 Primary ciliary dyskinesia 24 NCBI curation 615481 Feb 16 2016 83861 RSPH3 C4225311 Ciliary dyskinesia, primary, 32 NCBI curation 616481 Feb 16 2016 345895 RSPH4A C2675229 Ciliary dyskinesia, primary, 11 NCBI curation 612649 Feb 16 2016 221421 RSPH9 C2675228 Ciliary dyskinesia, primary, 12 NCBI curation 612650 Feb 16 2016 284654 RSPO1 C3149931 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal NCBI curation 610644 Feb 16 2016 340419 RSPO2 C4747940 HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY OMIM 618022 618022 Jun 24 2018 340419 RSPO2 C4747923 TETRAAMELIA SYNDROME 2 OMIM 618021 618021 Jun 24 2018 343637 RSPO4 C3277900 Anonychia Human Phenotype Ontology HP:0001798 206800 Feb 16 2016 89970 RSPRY1 C4225232 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type NCBI curation 616723 Feb 16 2016 51319 RSRC1 C5193077 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 OMIM 618402 618402 Apr 28 2019 51750 RTEL1 C3554656 Dyskeratosis congenita, autosomal recessive, 5 NCBI curation 615190 Feb 16 2016 51750 RTEL1 C4225346 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 NCBI curation 616373 Aug 24 2016 6253 RTN2 C1858106 Hereditary spastic paraplegia 12 MONDO MONDO:0011489 604805 Apr 17 2020 84816 RTN4IP1 C4225227 Optic atrophy 10 with or without ataxia, mental retardation, and seizures NCBI curation 616732 Aug 24 2016 65078 RTN4R C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 25914 RTTN C3553831 Microcephaly, short stature, and polymicrogyria with or without seizures NCBI curation 614833 Aug 24 2016 9711 RUBCN C3810326 Spinocerebellar ataxia, autosomal recessive 15 NCBI curation 615705 Feb 16 2016 861 RUNX1 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 861 RUNX1 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 861 RUNX1 C1832388 Familial platelet disorder with associated myeloid malignancy NCBI curation 601399 Feb 16 2016 860 RUNX2 C3549874 Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly NCBI curation 156510 Feb 16 2016 860 RUNX2 C0008928 Cleidocranial dysostosis 119600 Feb 16 2016 9853 RUSC2 C4540424 Intellectual disability, autosomal recessive 61 MONDO MONDO:0030915 617773 Apr 17 2020 10329 RXYLT1 C3554381 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 NCBI curation 615041 Aug 24 2016 6261 RYR1 CN181199 Statin-induced myopathy NCBI curation Feb 16 2016 6261 RYR1 C1850674 Minicore myopathy Human Phenotype Ontology HP:0003789 255320 Mar 19 2018 6261 RYR1 C2930980 Malignant hyperthermia, susceptibility to, 1 NCBI curation 145600 Aug 24 2016 6261 RYR1 C0546264 Congenital myopathy with fiber type disproportion 255310 Feb 16 2016 6261 RYR1 C0751951 Central core myopathy MONDO MONDO:0007294 117000 Apr 22 2020 6262 RYR2 C4053736 Catecholaminergic polymorphic ventricular tachycardia type 1 NCBI curation 604772 Oct 13 2017 6262 RYR2 C1832931 Arrhythmogenic right ventricular dysplasia, familial, 2 NCBI curation 600996 Aug 7 2016 9294 S1PR2 C1835854 Deafness, autosomal recessive 68 NCBI curation 610419 Feb 16 2016 26278 SACS C1849140 Charlevoix-Saguenay spastic ataxia MONDO MONDO:0010041 270550 Apr 22 2020 6295 SAG C3151061 Retinitis pigmentosa 47 NCBI curation 613758 Feb 16 2016 6295 SAG C4551824 Oguchi's disease 258100 Feb 16 2016 6299 SALL1 C4551481 Townes-Brocks syndrome 1 NCBI curation 107480 Oct 9 2017 6297 SALL2 C4011974 Ocular coloboma, autosomal recessive NCBI curation 216820 Feb 16 2016 57167 SALL4 C1623209 Duane-radial ray syndrome 607323 Feb 16 2016 57167 SALL4 C1327918 IVIC syndrome 147750 Feb 16 2016 401474 SAMD12 C1832841 Epilepsy, familial adult myoclonic, 1 NCBI curation 601068 Feb 16 2016 54809 SAMD9 C1864861 Tumoral calcinosis, familial, normophosphatemic NCBI curation 610455 Feb 16 2016 54809 SAMD9 C4284088 Mirage syndrome NCBI curation 617053 Aug 24 2016 219285 SAMD9L C1327919 Ataxia-pancytopenia syndrome MONDO MONDO:0008038 159550 Apr 17 2020 25939 SAMHD1 C3280721 Chilblain lupus 2 NCBI curation 614415 Feb 16 2016 25939 SAMHD1 C2749659 Aicardi Goutieres syndrome 5 NCBI curation 612952 Feb 16 2016 51128 SAR1B C0795956 Chylomicron retention disease 246700 Feb 16 2016 1757 SARDH C0268563 Sarcosine dehydrogenase deficiency 268900 Feb 16 2016 6301 SARS1 C4540188 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES OMIM 617709 617709 Oct 12 2017 54938 SARS2 C3151209 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis NCBI curation 613845 Feb 16 2016 23328 SASH1 C2675711 Dyschromatosis universalis hereditaria 1 NCBI curation 127500 Feb 16 2016 23328 SASH1 CN258269 CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM 618373 618373 Mar 31 2019 163786 SASS6 C4225338 Primary autosomal recessive microcephaly 14 NCBI curation 616402 Feb 16 2016 23314 SATB2 C2676739 Chromosome 2q32-q33 deletion syndrome NCBI curation 612313 Feb 16 2016 51119 SBDS C4692625 Shwachman-Diamond syndrome 1 NCBI curation 260400 Feb 6 2020 51119 SBDS C0002874 Aplastic anemia Human Phenotype Ontology HP:0001915 609135 Feb 16 2016 51119 SBDS C0272170 Shwachman syndrome Feb 6 2020 6305 SBF1 C3695063 Charcot-Marie-Tooth disease, type 4B3 NCBI curation 615284 Feb 16 2016 6305 SBF1 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation Jan 30 2019 81846 SBF2 C1858278 Charcot-Marie-Tooth disease, type 4B2 NCBI curation 604563 Feb 16 2016 6309 SC5D C1846421 Lathosterolosis NCBI curation 607330 Jun 4 2020 49855 SCAPER C4748658 Intellectual developmental disorder and retinitis pigmentosa; IDDRP MONDO MONDO:0032594 618195 May 27 2020 949 SCARB1 C1853096 High density lipoprotein cholesterol level quantitative trait locus 6 NCBI curation 610762 Feb 16 2016 950 SCARB2 C0751779 Epilepsy, progressive myoclonic 4, with or without renal failure NCBI curation 254900 Feb 16 2016 91179 SCARF2 C1833136 Van den Ende-Gupta syndrome MONDO MONDO:0010959 600920 Apr 22 2020 117156 SCGB3A2 C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 6336 SCN10A C3809893 Episodic pain syndrome, familial, 2 NCBI curation 615551 Feb 16 2016 11280 SCN11A C3809882 Neuropathy, hereditary sensory and autonomic, type VII NCBI curation 615548 Aug 13 2017 11280 SCN11A C3809899 Episodic pain syndrome, familial, 3 NCBI curation 615552 Feb 16 2016 6323 SCN1A C1858673 Generalized epilepsy with febrile seizures plus, type 2 NCBI curation 604403 Feb 16 2016 6323 SCN1A C1864987 Familial hemiplegic migraine type 3 NCBI curation 609634 Feb 16 2016 6323 SCN1A C4551549 Severe myoclonic epilepsy in infancy NCBI curation 607208 Feb 16 2016 6324 SCN1B C1858672 Generalized epilepsy with febrile seizures plus, type 1 NCBI curation 604233 Feb 16 2016 6324 SCN1B C2748541 Brugada syndrome 5 NCBI curation 612838 Feb 16 2016 6324 SCN1B C3809311 Atrial fibrillation, familial, 13 NCBI curation 615377 Feb 16 2016 6324 SCN1B C4479236 Epileptic encephalopathy, early infantile, 52 NCBI curation 617350 Jun 20 2017 6326 SCN2A C3150987 Early infantile epileptic encephalopathy 11 NCBI curation 613721 Feb 16 2016 6326 SCN2A CN120574 SCN2A-related generalized epilepsy with febrile seizures plus NCBI curation Feb 16 2016 6326 SCN2A C1843140 Benign familial neonatal-infantile seizures NCBI curation 607745 Jan 5 2020 6327 SCN2B C3809312 Atrial fibrillation, familial, 14 NCBI curation 615378 Feb 16 2016 6328 SCN3A C4693699 Early infantile epileptic encephalopathy 62 NCBI curation 617938 Apr 23 2018 6328 SCN3A C4693694 Epilepsy, familial focal, with variable foci 4 NCBI curation 617935 Jan 11 2020 55800 SCN3B C2751088 Brugada syndrome 7 NCBI curation 613120 Feb 16 2016 6329 SCN4A CN074266 Hyperkalemic Periodic Paralysis Type 1 GeneReviews NBK1496 170500 Feb 16 2016 6329 SCN4A C0221055 Paramyotonia congenita of von Eulenburg NCBI curation 168300 Feb 16 2016 6329 SCN4A C3280112 Congenital myasthenic syndrome, acetazolamide-responsive NCBI curation 614198 Feb 16 2016 6329 SCN4A C3714580 Hypokalemic periodic paralysis 1 NCBI curation 170400 Feb 16 2016 6329 SCN4A C2931826 Potassium aggravated myotonia 608390 Feb 16 2016 6329 SCN4A C2750061 Hypokalemic periodic paralysis, type 2 NCBI curation 613345 Feb 16 2016 6330 SCN4B C2678484 Long QT syndrome 10 611819 Feb 16 2016 6331 SCN5A C2751898 Paroxysmal familial ventricular fibrillation 1 NCBI curation 603829 Sep 5 2016 6331 SCN5A C0038644 SUDDEN INFANT DEATH SYNDROME OMIM 272120 272120 May 25 2016 6331 SCN5A C3151464 Atrial fibrillation, familial, 10 NCBI curation 614022 Nov 11 2018 6331 SCN5A C1879286 Progressive familial heart block, type 1A MONDO MONDO:0007240 113900 Apr 22 2020 6331 SCN5A C1837845 Sick sinus syndrome 1, autosomal recessive NCBI curation 608567 Feb 16 2016 6331 SCN5A C4551804 Brugada syndrome 1 NCBI curation 601144 May 25 2016 6331 SCN5A C1832680 Dilated cardiomyopathy 1E NCBI curation 601154 May 26 2016 6331 SCN5A C1859062 Long QT syndrome 3 NCBI curation 603830 Oct 31 2016 6334 SCN8A C3280415 Cognitive impairment with or without cerebellar ataxia NCBI curation 614306 Feb 16 2016 6334 SCN8A C3281191 Early infantile epileptic encephalopathy 13 NCBI curation 614558 Feb 16 2016 6334 SCN8A C5193056 MYOCLONUS, FAMILIAL, 2 OMIM 618364 618364 Mar 23 2019 6334 SCN8A C4310728 Seizures, benign familial infantile, 5 NCBI curation 617080 Aug 24 2016 6335 SCN9A C2752089 Hereditary sensory and autonomic neuropathy type IIA NCBI curation 201300 Feb 16 2016 6335 SCN9A C1855739 Indifference to pain, congenital, autosomal recessive NCBI curation 243000 Feb 16 2016 6335 SCN9A C4551549 Severe myoclonic epilepsy in infancy NCBI curation 607208 Feb 16 2016 6335 SCN9A C2751778 Generalized epilepsy with febrile seizures plus, type 7 NCBI curation 613863 Feb 16 2016 6335 SCN9A C0014805 Primary erythromelalgia 133020 Feb 16 2016 6335 SCN9A C1833661 Paroxysmal extreme pain disorder NCBI curation 167400 Feb 16 2016 6337 SCNN1A C2751666 Bronchiectasis with or without elevated sweat chloride 2 NCBI curation 613021 Feb 16 2016 6337 SCNN1A C1449843 Autosomal recessive pseudohypoaldosteronism type 1 MONDO MONDO:0009917 264350 Apr 22 2020 6337 SCNN1A C4748292 LIDDLE SYNDROME 3 OMIM 618126 618126 Sep 19 2018 6338 SCNN1B CN031472 Liddle syndrome 1 NCBI curation 177200 Jan 19 2020 6338 SCNN1B C1449843 Autosomal recessive pseudohypoaldosteronism type 1 MONDO MONDO:0009917 264350 Apr 22 2020 6338 SCNN1B C2749757 Bronchiectasis with or without elevated sweat chloride 1 NCBI curation 211400 Nov 20 2016 6340 SCNN1G C1449843 Autosomal recessive pseudohypoaldosteronism type 1 MONDO MONDO:0009917 264350 Apr 22 2020 6340 SCNN1G C2751324 Bronchiectasis with or without elevated sweat chloride 3 NCBI curation 613071 Feb 16 2016 6340 SCNN1G C4748251 LIDDLE SYNDROME 2 OMIM 618114 618114 Sep 14 2018 6341 SCO1 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 9997 SCO2 C1858424 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NCBI curation 604377 Feb 16 2016 9997 SCO2 C1837148 Myopia 6 608908 Feb 16 2016 6342 SCP2 C3150990 Leukoencephalopathy with dystonia and motor neuropathy NCBI curation 613724 Feb 16 2016 57410 SCYL1 C4225236 Spinocerebellar ataxia, autosomal recessive 21 NCBI curation 616719 Feb 16 2016 55681 SCYL2 C5231494 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM OMIM 618766 618766 Feb 7 2020 9672 SDC3 C0028754 Obesity NCBI curation 601665 Feb 16 2016 10806 SDCCAG8 C3889474 Bardet-Biedl syndrome 16 NCBI curation 615993 Feb 16 2016 10806 SDCCAG8 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 Feb 16 2016 10806 SDCCAG8 C3150877 Senior-Loken syndrome 7 NCBI curation 613615 Feb 16 2016 6389 SDHA C3279992 Paragangliomas 5 NCBI curation 614165 Feb 16 2016 6389 SDHA C3150898 Dilated cardiomyopathy 1GG NCBI curation 613642 Feb 16 2016 6389 SDHA C1855008 Mitochondrial complex II deficiency 252011 Feb 16 2016 6389 SDHA C0023264 Leigh syndrome Orphanet ORPHA506 256000 Feb 16 2016 644096 SDHAF1 C1855008 Mitochondrial complex II deficiency 252011 Feb 16 2016 54949 SDHAF2 C1866552 Paragangliomas 2 NCBI curation 601650 Feb 16 2016 6390 SDHB C1861848 Paragangliomas 4 115310 Feb 16 2016 6390 SDHB C0031511 Pheochromocytoma Human Phenotype Ontology HP:0002666 171300 Feb 16 2016 6390 SDHB C0238198 Gastrointestinal stromal tumor MONDO MONDO:0011719 606764 Apr 17 2020 6390 SDHB C0238198 Gastrointestinal stromal tumor Human Phenotype Ontology HP:0100723 606764 Apr 17 2020 6390 SDHB C1847319 Carney-Stratakis syndrome MONDO MONDO:0011740 606864 Apr 17 2020 6391 SDHC C1847319 Carney-Stratakis syndrome MONDO MONDO:0011740 606864 Apr 17 2020 6391 SDHC C0238198 Gastrointestinal stromal tumor MONDO MONDO:0011719 606764 Apr 17 2020 6391 SDHC C0238198 Gastrointestinal stromal tumor Human Phenotype Ontology HP:0100723 606764 Apr 17 2020 6391 SDHC C1854336 Paragangliomas 3 605373 Feb 16 2016 6392 SDHD C1855008 Mitochondrial complex II deficiency 252011 Feb 16 2016 6392 SDHD C1868633 Paragangliomas 1 168000 Feb 16 2016 6392 SDHD C0031511 Pheochromocytoma Human Phenotype Ontology HP:0002666 171300 Feb 16 2016 6392 SDHD C1847319 Carney-Stratakis syndrome MONDO MONDO:0011740 606864 Apr 17 2020 121214 SDR9C7 C0020758 Congenital ichthyosis of skin NCBI curation Feb 16 2016 121214 SDR9C7 C4539772 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 OMIM 617574 617574 Jul 16 2017 10484 SEC23A C1843042 Craniolenticulosutural dysplasia NCBI curation 607812 Feb 16 2016 10483 SEC23B C4225179 Cowden syndrome 7 NCBI curation 616858 Feb 19 2019 10483 SEC23B C1306589 Congenital dyserythropoietic anemia, type II 224100 Feb 16 2016 9871 SEC24D C4225382 Cole-Carpenter syndrome 2 NCBI curation 616294 Sep 22 2016 22872 SEC31A C5231442 NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES OMIM 618651 618651 Nov 7 2019 29927 SEC61A1 C4310741 Hyperuricemic nephropathy, familial juvenile, 4 NCBI curation 617056 Aug 24 2016 11231 SEC63 C4310769 Polycystic liver disease 2 NCBI curation 617004 Aug 24 2016 79048 SECISBP2 C1864761 Thyroid hormone metabolism, abnormal NCBI curation 609698 Feb 16 2016 8991 SELENBP1 C4748387 EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY OMIM 618148 618148 Oct 14 2018 85465 SELENOI CN263276 SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE OMIM 618768 618768 Feb 16 2020 57190 SELENON Multiminicore Disease NCBI curation Feb 16 2016 57190 SELENON C0410180 Eichsfeld type congenital muscular dystrophy 602771 Feb 16 2016 57190 SELENON C0546264 Congenital myopathy with fiber type disproportion 255310 Feb 16 2016 10371 SEMA3A C3554021 Hypogonadotropic hypogonadism 16 with or without anosmia NCBI curation 614897 Feb 16 2016 9723 SEMA3E C0265354 CHARGE association NCBI curation 214800 Feb 16 2016 9723 SEMA3E C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 64218 SEMA4A C1853214 Retinitis pigmentosa 35 NCBI curation 610282 Feb 16 2016 64218 SEMA4A C1846529 Cone-rod dystrophy 10 NCBI curation 610283 Feb 16 2016 10501 SEMA6B CN280919 EPILEPSY, PROGRESSIVE MYOCLONIC, 11 OMIM 618876 618876 May 14 2020 8482 SEMA7A C3553633 John Milton Hagen blood group system NCBI curation 614745 Feb 16 2016 51091 SEPSECS C3151140 Pontocerebellar hypoplasia type 2D NCBI curation 613811 Feb 16 2016 124404 SEPTIN12 C3553793 Spermatogenic failure 10 NCBI curation 614822 Feb 16 2016 10801 SEPTIN9 C1834304 Amyotrophy, hereditary neuralgic NCBI curation 162100 May 26 2016 84947 SERAC1 C3553597 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NCBI curation 614739 Feb 16 2016 5265 SERPINA1 C0221757 Alpha-1-antitrypsin deficiency NCBI curation 613490 Feb 16 2016 866 SERPINA6 C1852529 Corticosteroid-binding globulin deficiency NCBI curation 611489 Feb 16 2016 6906 SERPINA7 C4310821 Thyroxine-binding globulin quantitative trait locus NCBI curation 300932 Jun 20 2017 6906 SERPINA7 C1839141 Thyroxine-binding globulin deficiency NCBI curation Feb 16 2016 5269 SERPINB6 C3150704 Deafness, autosomal recessive 91 NCBI curation 613453 Feb 16 2016 8710 SERPINB7 C3810072 Palmoplantar keratoderma, nagashima type NCBI curation 615598 Feb 16 2016 5271 SERPINB8 C4310710 Peeling skin syndrome 5 NCBI curation 617115 Jun 20 2017 462 SERPINC1 C0272375 Antithrombin III deficiency Human Phenotype Ontology HP:0001976 613118 Apr 17 2020 462 SERPINC1 C0272375 Antithrombin III deficiency MONDO MONDO:0013144 613118 Apr 17 2020 3053 SERPIND1 C0398626 Heparin cofactor II deficiency 612356 Feb 16 2016 5054 SERPINE1 C2750067 Congenital plasminogen activator inhibitor type 1 deficiency MONDO MONDO:0013227 613329 Apr 17 2020 5176 SERPINF1 C3279564 Osteogenesis imperfecta, type VI NCBI curation 613982 Sep 28 2016 5345 SERPINF2 C2752081 Alpha-2-plasmin inhibitor deficiency MONDO MONDO:0009883 262850 Apr 17 2020 710 SERPING1 C1852700 Complement component 4, partial deficiency of NCBI curation 120790 Feb 16 2016 710 SERPING1 C2717906 Hereditary angioedema type 1 NCBI curation 106100 Feb 16 2016 710 SERPING1 C2717906 Hereditary angioedema type 1 NCBI curation 106100 Feb 16 2016 871 SERPINH1 C3151211 Osteogenesis imperfecta type 10 NCBI curation 613848 Feb 16 2016 871 SERPINH1 C0729264 Preterm premature rupture of membranes NCBI curation 610504 Feb 16 2016 5274 SERPINI1 C1858680 Encephalopathy, familial, with neuroserpin inclusion bodies NCBI curation 604218 May 26 2016 6418 SET C4748195 MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 OMIM 618106 618106 Sep 2 2018 26040 SETBP1 C0265227 Schinzel-Giedion syndrome NCBI curation 269150 Feb 16 2016 26040 SETBP1 C4015141 Mental retardation, autosomal dominant 29 NCBI curation 616078 Feb 16 2016 9739 SETD1A CN272918 EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY OMIM 618832 618832 Apr 10 2020 29072 SETD2 C4085873 Luscan-lumish syndrome NCBI curation 616831 Oct 23 2016 55209 SETD5 C3810406 Mental retardation, autosomal dominant 23 NCBI curation 615761 Feb 16 2016 23064 SETX C1865409 Amyotrophic lateral sclerosis type 4 602433 Feb 16 2016 23064 SETX C1853761 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 NCBI curation 606002 Jan 3 2020 23451 SF3B1 C3463824 Myelodysplastic syndrome NCBI curation 614286 Feb 16 2016 10262 SF3B4 C0265245 Nager syndrome 154400 Feb 16 2016 6424 SFRP4 C0265294 Pyle metaphyseal dysplasia 265900 Feb 16 2016 729238 SFTPA2 C1800706 Idiopathic fibrosing alveolitis, chronic form 178500 Feb 16 2016 6439 SFTPB C1968602 Surfactant metabolism dysfunction, pulmonary, 1 NCBI curation 265120 Feb 16 2016 6440 SFTPC C1800706 Idiopathic fibrosing alveolitis, chronic form 178500 Feb 16 2016 6440 SFTPC C1970470 Surfactant metabolism dysfunction, pulmonary, 2 NCBI curation 610913 Feb 16 2016 119559 SFXN4 C3810001 Combined oxidative phosphorylation deficiency 18 NCBI curation 615578 Feb 16 2016 6442 SGCA C2936332 Autosomal recessive limb-girdle muscular dystrophy type 2D MONDO MONDO:0011968 608099 Apr 17 2020 6443 SGCB C1858593 Autosomal recessive limb-girdle muscular dystrophy type 2E MONDO MONDO:0011423 604286 Apr 17 2020 6443 SGCB C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 Feb 16 2016 6443 SGCB C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 Feb 16 2016 6444 SGCD C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 Feb 16 2016 6444 SGCD C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 Feb 16 2016 6444 SGCD C1832525 Autosomal recessive limb-girdle muscular dystrophy type 2F MONDO MONDO:0011028 601287 Apr 17 2020 6444 SGCD C1847667 Dilated cardiomyopathy 1L NCBI curation C1847667 606685 Feb 16 2016 6444 SGCD C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 8910 SGCE C1834570 Myoclonic dystonia 159900 Feb 16 2016 6445 SGCG C0410173 Severe autosomal recessive muscular dystrophy of childhood - North African type 253700 Feb 16 2016 166929 SGMS2 C1852022 Doughnut lesions of skull, familial NCBI curation 126550 Feb 16 2016 151648 SGO1 C4015474 Chronic atrial and intestinal dysrhythmia NCBI curation 616201 Feb 16 2016 8879 SGPL1 C4540559 Nephrotic syndrome type 14 NCBI curation 617575 Jul 24 2018 8879 SGPL1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 Feb 16 2016 6448 SGSH C0086647 Mucopolysaccharidosis, MPS-III-A 252900 Feb 16 2016 10019 SH2B3 C0001815 Myelofibrosis Human Phenotype Ontology HP:0011974 254450 Feb 16 2016 10019 SH2B3 C4551637 Primary familial polycythemia due to EPO receptor mutation MONDO MONDO:0007572 133100 Apr 17 2020 10019 SH2B3 C3277671 Thrombocythemia 1 NCBI curation 187950 Dec 22 2019 4068 SH2D1A C1868674 Lymphoproliferative syndrome 1, X-linked NCBI curation 308240 Feb 16 2016 6452 SH3BP2 C0008029 Fibrous dysplasia of jaw 118400 Feb 16 2016 6455 SH3GL1 C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 6455 SH3GL1 C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 30011 SH3KBP1 C1845903 Immunodeficiency 61 NCBI curation 300310 Dec 31 2019 285590 SH3PXD2B C1855305 Frank-Ter Haar syndrome MONDO MONDO:0009579 249420 Apr 22 2020 79628 SH3TC2 C3150596 Mononeuropathy of the median nerve, mild NCBI curation 613353 Feb 16 2016 79628 SH3TC2 C1866636 Charcot-Marie-Tooth disease, type 4C NCBI curation 601596 Feb 16 2016 22941 SHANK2 C3150693 Autism 17 NCBI curation 613436 Feb 16 2016 22941 SHANK2 C1510586 Autism spectrum disorder MONDO MONDO:0005258 Jul 6 2018 85358 SHANK3 C1853490 22q13.3 deletion syndrome NCBI curation 606232 Feb 16 2016 85358 SHANK3 C3151380 Schizophrenia 15 NCBI curation 613950 Feb 16 2016 6469 SHH C0266484 SCHIZENCEPHALY OMIM 269160 269160 May 20 2016 6469 SHH C1968843 Microphthalmia, isolated, with coloboma 5 NCBI curation 611638 Feb 16 2016 6469 SHH C1840529 Holoprosencephaly 3 NCBI curation 142945 Feb 16 2016 6469 SHH C1840235 Solitary median maxillary central incisor syndrome MONDO MONDO:0007819 147250 Apr 17 2020 6469 SHH C1840235 Solitary median maxillary central incisor syndrome Human Phenotype Ontology HP:0006315 147250 Apr 17 2020 8036 SHOC2 C4478716 Noonan syndrome-like disorder with loose anagen hair 1 NCBI curation 607721 Nov 26 2017 6473 SHOX C1845118 Short stature, idiopathic, X-linked NCBI curation 300582 Feb 16 2016 6473 SHOX C0432230 Langer mesomelic dysplasia syndrome 249700 Feb 16 2016 6473 SHOX C0265309 Leri-Weill dyschondrosteosis MONDO MONDO:0007481 127300 Apr 22 2020 23729 SHPK C1291373 Sedoheptulokinase deficiency NCBI curation 617213 Jun 20 2017 57477 SHROOM4 C1845530 X-linked intellectual disability, Stocco dos Santos type MONDO MONDO:0010325 300434 Apr 17 2020 6476 SI C1283620 Sucrase-isomaltase deficiency NCBI curation 222900 Feb 16 2016 54414 SIAE C3150797 Autoimmune disease 6 NCBI curation 613551 Feb 16 2016 10280 SIGMAR1 C1854023 Distal spinal muscular atrophy, autosomal recessive 2 NCBI curation 605726 Feb 16 2016 10280 SIGMAR1 C3280587 Amyotrophic lateral sclerosis 16, juvenile NCBI curation 614373 Feb 16 2016 150094 SIK1 C4225360 Epileptic encephalopathy, early infantile, 30 NCBI curation 616341 Feb 16 2016 23387 SIK3 C4748455 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE OMIM 618162 618162 Oct 31 2018 64374 SIL1 C0024814 Marinesco-Sjögren syndrome NCBI curation 248800 Feb 16 2016 25942 SIN3A C4310804 Witteveen-kolk syndrome NCBI curation 613406 Aug 24 2016 23094 SIPA1L3 C4225182 Cataract 45 NCBI curation 616851 Feb 26 2017 6495 SIX1 C1842124 Branchiootic syndrome 3 NCBI curation 608389 Feb 16 2016 6495 SIX1 C4551702 Melnick-Fraser syndrome NCBI curation 113650 Feb 16 2016 6495 SIX1 C1854594 Deafness, autosomal dominant 23 NCBI curation 605192 Feb 16 2016 6496 SIX3 C0266484 SCHIZENCEPHALY OMIM 269160 269160 May 20 2016 6496 SIX3 C1834877 Holoprosencephaly 2 NCBI curation 157170 Feb 16 2016 6496 SIX3 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 147912 SIX5 C1970479 Branchiootorenal syndrome 2 NCBI curation 610896 Feb 16 2016 4990 SIX6 C1859773 Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO MONDO:0008799 206900 Apr 17 2020 4990 SIX6 C4225424 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO MONDO:0008927 212550 Apr 17 2020 6497 SKI C1321551 Shprintzen-Goldberg syndrome NCBI curation 182212 Feb 16 2016 6499 SKIV2L C3281289 Trichohepatoenteric syndrome 2 NCBI curation 614602 Feb 16 2016 6555 SLC10A2 C2750087 Bile acid malabsorption, primary NCBI curation 613291 Feb 16 2016 84068 SLC10A7 C5193055 SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS OMIM 618363 618363 Mar 21 2019 6556 SLC11A1 C1864868 Buruli ulcer, susceptibility to NCBI curation 610446 Feb 16 2016 6556 SLC11A1 C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 4891 SLC11A2 C3806153 Anemia, hypochromic microcytic, with iron overload 1 NCBI curation 206100 Jan 21 2020 6557 SLC12A1 C1866495 Bartter syndrome, type 1, antenatal NCBI curation 601678 Mar 12 2017 6559 SLC12A3 C0268450 Familial hypokalemia-hypomagnesemia 263800 Feb 16 2016 57468 SLC12A5 C4225257 Early infantile epileptic encephalopathy 34 NCBI curation 616645 Feb 16 2016 57468 SLC12A5 C4225245 Epilepsy, idiopathic generalized, susceptibility to, 14 NCBI curation 616685 Feb 16 2016 9990 SLC12A6 C0795950 Agenesis of the corpus callosum with peripheral neuropathy MONDO MONDO:0000902 218000 Apr 17 2020 64849 SLC13A3 C5193068 LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE OMIM 618384 618384 Apr 14 2019 284111 SLC13A5 C4014621 Epileptic encephalopathy, early infantile, 25 NCBI curation 615905 Feb 16 2016 6563 SLC14A1 C0022645 BLOOD GROUP--KIDD SYSTEM 111000 Feb 16 2016 6566 SLC16A1 C1864902 Exercise-induced hyperinsulinism MONDO MONDO:0012396 610021 Apr 17 2020 6566 SLC16A1 C1855577 Erythrocyte lactate transporter defect NCBI curation 245340 Feb 16 2016 6566 SLC16A1 C4015186 Monocarboxylate transporter 1 deficiency NCBI curation 616095 Feb 16 2016 387700 SLC16A12 C4310806 Cataract, juvenile, with microcornea and glucosuria NCBI curation 612018 Feb 16 2016 6567 SLC16A2 C0795889 Allan-Herndon-Dudley syndrome 300523 Feb 16 2016 10786 SLC17A3 C2675207 Uric acid concentration, serum, quantitative trait locus 4 NCBI curation 612671 Feb 16 2016 26503 SLC17A5 C1096903 Salla disease 604369 Feb 16 2016 26503 SLC17A5 C1096902 Sialic acid storage disease, severe infantile type 269920 Feb 16 2016 246213 SLC17A8 C1854158 Deafness, autosomal dominant 25 NCBI curation 605583 Feb 16 2016 63910 SLC17A9 C4015128 Porokeratosis 8, disseminated superficial actinic type NCBI curation 616063 Feb 16 2016 6571 SLC18A2 C4747991 Parkinsonism-dystonia, infantile, 2 NCBI curation 618049 Dec 30 2019 6572 SLC18A3 C4310654 Myasthenic syndrome, congenital, 21, presynaptic NCBI curation 617239 Jun 20 2017 10560 SLC19A2 C0342287 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 249270 Feb 16 2016 80704 SLC19A3 C1843807 Biotin-responsive basal ganglia disease MONDO MONDO:0011841 607483 May 9 2020 6505 SLC1A1 C1857253 Dicarboxylic aminoaciduria 222730 Feb 16 2016 6505 SLC1A1 C3808913 Schizophrenia 18 NCBI curation 615232 Feb 16 2016 6506 SLC1A2 C4310717 Epileptic encephalopathy, early infantile, 41 NCBI curation 617105 Jun 20 2017 6507 SLC1A3 C2675211 Episodic ataxia, type 6 NCBI curation 612656 Feb 16 2016 6509 SLC1A4 C4225254 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly NCBI curation 616657 Feb 16 2016 6575 SLC20A2 C4551624 Idiopathic basal ganglia calcification 1 NCBI curation 213600 Jan 1 2020 116085 SLC22A12 C0473219 Familial renal hypouricemia 220150 Feb 16 2016 5002 SLC22A18 C1849385 Rhabdomyosarcoma 1 NCBI curation 268210 Feb 16 2016 5002 SLC22A18 C0684249 Lung cancer NCBI curation 211980 Feb 16 2016 5002 SLC22A18 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 6583 SLC22A4 C0003873 Rheumatoid arthritis Human Phenotype Ontology HP:0001370 180300 Jul 22 2019 6584 SLC22A5 C0342788 Renal carnitine transport defect 212140 Feb 16 2016 9187 SLC24A1 C3151193 Congenital stationary night blindness, type 1D NCBI curation 613830 Feb 16 2016 123041 SLC24A4 C2673866 Skin/hair/eye pigmentation, variation in, 6 NCBI curation 210750 Feb 16 2016 123041 SLC24A4 C4014578 Amelogenesis imperfecta, hypomaturation type IIA5 NCBI curation 615887 Oct 14 2017 283652 SLC24A5 C3805375 Skin/hair/eye pigmentation, variation in, 4 NCBI curation 113750 Feb 16 2016 6576 SLC25A1 C0751882 Congenital myasthenic syndrome NCBI curation Feb 16 2016 6576 SLC25A1 C2746066 Combined d-2- and l-2-hydroxyglutaric aciduria NCBI curation 615182 Feb 16 2016 6576 SLC25A1 C4748678 MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC OMIM 618197 618197 Nov 30 2018 8402 SLC25A11 C5193112 PARAGANGLIOMAS 6 OMIM 618464 618464 Jun 23 2019 8604 SLC25A12 C2751855 Hypomyelination, global cerebral NCBI curation 612949 Feb 16 2016 10165 SLC25A13 C1853942 Neonatal intrahepatic cholestasis caused by citrin deficiency NCBI curation 605814 Feb 16 2016 10165 SLC25A13 C1863844 Citrullinemia type II 603471 Feb 16 2016 10166 SLC25A15 C0268540 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome NCBI curation 238970 Feb 16 2016 60386 SLC25A19 C1846648 Amish lethal microcephaly 607196 Feb 16 2016 60386 SLC25A19 C3150973 Striatal necrosis, bilateral, and progressive polyneuropathy NCBI curation 613710 Feb 16 2016 788 SLC25A20 C0342791 Carnitine acylcarnitine translocase deficiency NCBI curation 212138 Feb 16 2016 89874 SLC25A21 CN263372 MITOCHONDRIAL DNA DEPLETION SYNDROME 18 OMIM 618811 618811 Mar 20 2020 79751 SLC25A22 C0270855 Early myoclonic encephalopathy 609304 Feb 16 2016 29957 SLC25A24 C2676780 Fontaine progeroid syndrome NCBI curation 612289 Mar 11 2018 115286 SLC25A26 C4225206 Combined oxidative phosphorylation deficiency 28 NCBI curation 616794 Feb 16 2016 5250 SLC25A3 C1835845 Mitochondrial phosphate carrier deficiency NCBI curation 610773 Feb 16 2016 81034 SLC25A32 C4225187 Exercise intolerance, riboflavin-responsive NCBI curation 616839 Jul 1 2017 54977 SLC25A38 C4225425 Anemia, sideroblastic, 2, pyridoxine-refractory NCBI curation 205950 Feb 8 2020 291 SLC25A4 C4310676 Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant NCBI curation 617184 Jun 20 2017 291 SLC25A4 C1836460 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 NCBI curation 609283 Feb 16 2016 291 SLC25A4 C3809443 Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive NCBI curation 615418 Jun 20 2017 284439 SLC25A42 C5193083 METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION OMIM 618416 618416 May 12 2019 91137 SLC25A46 C4225302 Neuropathy, hereditary motor and sensory, type 6B MONDO MONDO:0014671 616505 Apr 22 2020 10861 SLC26A1 C1833683 Calcium oxalate urolithiasis Human Phenotype Ontology HP:0008672 167030 Apr 10 2018 1836 SLC26A2 C0220726 Diastrophic dysplasia 222600 Feb 16 2016 1836 SLC26A2 C1850554 Atelosteogenesis type II MONDO MONDO:0009727 256050 Apr 22 2020 1836 SLC26A2 C0029422 Osteochondrodysplasia NCBI curation Feb 16 2016 1836 SLC26A2 C1847593 Multiple epiphyseal dysplasia type 4 MONDO MONDO:0009189 226900 Apr 22 2020 1836 SLC26A2 C0265274 Achondrogenesis, type IB 600972 Feb 16 2016 1811 SLC26A3 C0267662 Congenital secretory diarrhea, chloride type 214700 Feb 16 2016 5172 SLC26A4 C0271829 Pendred syndrome NCBI curation 274600 Oct 15 2018 5172 SLC26A4 C3538946 Enlarged vestibular aqueduct Human Phenotype Ontology HP:0011387 600791 Mar 19 2018 375611 SLC26A5 C3151230 Deafness, autosomal recessive 61 NCBI curation 613865 Feb 16 2016 116369 SLC26A8 C4721889 Spermatogenic failure 3 NCBI curation 606766 Feb 16 2016 10999 SLC27A4 C1837610 Ichthyosis prematurity syndrome 608649 Feb 16 2016 9154 SLC28A1 C4760647 URIDINE-CYTIDINEURIA OMIM 618477 618477 Jun 19 2019 55315 SLC29A3 C1864445 Histiocytosis-lymphadenopathy plus syndrome NCBI curation 602782 Feb 16 2016 6513 SLC2A1 C1832855 Dystonia 9 NCBI curation 601042 Aug 24 2016 6513 SLC2A1 C1837206 Stomatin-deficient cryohydrocytosis with neurologic defects NCBI curation 608885 Aug 24 2016 6513 SLC2A1 C1842534 GLUT1 deficiency syndrome 2 NCBI curation 612126 Feb 16 2016 6513 SLC2A1 C4551966 GLUT1 deficiency syndrome 1 NCBI curation 606777 Nov 6 2016 6513 SLC2A1 C3553859 Epilepsy, idiopathic generalized, susceptibility to, 12 NCBI curation 614847 Feb 16 2016 81031 SLC2A10 C1859726 Arterial tortuosity syndrome NCBI curation 208050 May 26 2016 6514 SLC2A2 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 6514 SLC2A2 C3495427 Fanconi-Bickel syndrome NCBI curation 227810 Feb 16 2016 56606 SLC2A9 C2677549 Renal hypouricemia 2 NCBI curation 612076 Feb 16 2016 55532 SLC30A10 C2750442 Hypermanganesemia with dystonia 1 NCBI curation 613280 Jun 18 2017 7780 SLC30A2 C1842486 Zinc deficiency, transient neonatal NCBI curation 608118 Aug 24 2016 169026 SLC30A8 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 10463 SLC30A9 C4539828 Birk-Landau-Perez syndrome NCBI curation 617595 Jul 30 2017 9197 SLC33A1 C3280965 Congenital cataracts, hearing loss, and neurodegeneration NCBI curation 614482 Feb 16 2016 9197 SLC33A1 C2675528 Spastic paraplegia 42, autosomal dominant NCBI curation 612539 Feb 16 2016 6569 SLC34A1 C2676786 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 NCBI curation 612286 Feb 16 2016 6569 SLC34A1 C3150652 Fanconi renotubular syndrome 2 NCBI curation 613388 Feb 16 2016 6569 SLC34A1 C4310473 Hypercalcemia, infantile, 2 NCBI curation 616963 Jun 22 2017 10568 SLC34A2 C0155912 PULMONARY ALVEOLAR MICROLITHIASIS OMIM 265100 265100 May 26 2016 142680 SLC34A3 C1853271 Autosomal recessive hypophosphatemic bone disease 241530 Feb 16 2016 10559 SLC35A1 C1970344 Congenital disorder of glycosylation type 2F NCBI curation 603585 Feb 16 2016 7355 SLC35A2 C3806688 SLC35A2-CDG MONDO MONDO:0010478 300896 Apr 17 2020 23443 SLC35A3 C3809910 Arthrogryposis, mental retardation, and seizures NCBI curation 615553 Feb 16 2016 55343 SLC35C1 C0398739 Leukocyte adhesion deficiency type II MONDO MONDO:0009953 266265 Apr 22 2020 23169 SLC35D1 C0432194 Schneckenbecken dysplasia 269250 Feb 16 2016 153201 SLC36A2 C0268654 Iminoglycinuria 242600 Feb 16 2016 153201 SLC36A2 C0543541 Hyperglycinuria Human Phenotype Ontology HP:0003108 138500 Feb 16 2016 2542 SLC37A4 C0268146 Glucose-6-phosphate transport defect 232220 Feb 16 2016 2542 SLC37A4 C0342749 Phosphate transport defect 232240 Feb 16 2016 146167 SLC38A8 C3807873 Foveal hypoplasia 2 NCBI curation 609218 Aug 24 2016 91252 SLC39A13 C2676510 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like NCBI curation 612350 Feb 16 2016 23516 SLC39A14 C4310765 Hypermanganesemia with dystonia 2 NCBI curation 617013 Aug 24 2016 23516 SLC39A14 C1840404 Hyperostosis cranialis interna Human Phenotype Ontology HP:0005890 144755 Feb 16 2016 55630 SLC39A4 C0221036 Hereditary acrodermatitis enteropathica 201100 Feb 16 2016 283375 SLC39A5 C4014762 Myopia 24, autosomal dominant NCBI curation 615946 Feb 16 2016 64116 SLC39A8 C4225234 SLC39A8-CDG MONDO MONDO:0014746 616721 Apr 17 2020 6519 SLC3A1 C0010691 Cystinuria Human Phenotype Ontology HP:0003131 220100 Feb 16 2016 30061 SLC40A1 C1853733 Hemochromatosis type 4 606069 Feb 16 2016 23446 SLC44A1 CN280881 NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE OMIM 618868 618868 May 6 2020 80736 SLC44A4 C4539886 DEAFNESS, AUTOSOMAL DOMINANT 72 OMIM 617606 617606 Aug 9 2017 50651 SLC45A1 C4479636 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES OMIM 617532 617532 Jun 28 2017 51151 SLC45A2 C2673584 Skin/hair/eye pigmentation, variation in, 5 NCBI curation 227240 Feb 16 2016 51151 SLC45A2 C1847836 Oculocutaneous albinism type 4 NCBI curation 606574 Feb 16 2016 113235 SLC46A1 C0342705 Congenital defect of folate absorption 229050 Feb 16 2016 6521 SLC4A1 C1969038 Renal tubular acidosis, distal, with hemolytic anemia NCBI curation 611590 Feb 16 2016 6521 SLC4A1 C1862322 Ovalocytosis, southeast Asian NCBI curation 166900 Jul 8 2019 6521 SLC4A1 C1832169 BLOOD GROUP--SWANN SYSTEM OMIM 601550 601550 Feb 16 2016 6521 SLC4A1 C1292286 BLOOD GROUP--DIEGO SYSTEM 110500 Feb 16 2016 6521 SLC4A1 C1862190 BLOOD GROUP--WRIGHT ANTIGEN OMIM 112050 112050 Feb 16 2016 6521 SLC4A1 C1832168 BLOOD GROUP--FROESE OMIM 601551 601551 Feb 16 2016 6521 SLC4A1 C1862191 BLOOD GROUP--WALDNER TYPE OMIM 112010 112010 Feb 16 2016 6521 SLC4A1 C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 6521 SLC4A1 C0259810 Autosomal dominant distal renal tubular acidosis MONDO MONDO:0008368 179800 Apr 22 2020 6521 SLC4A1 C1861453 Hereditary cryohydrocytosis with normal stomatin MONDO MONDO:0008494 185020 Apr 17 2020 6521 SLC4A1 C2675212 Spherocytosis type 4 NCBI curation 612653 Feb 16 2016 83959 SLC4A11 C2750450 Corneal dystrophy, Fuchs endothelial, 4 NCBI curation 613268 Feb 16 2016 83959 SLC4A11 C1857572 Corneal dystrophy-perceptive deafness syndrome MONDO MONDO:0009015 217400 Apr 17 2020 83959 SLC4A11 C1857569 Corneal endothelial dystrophy OMIM phenotypic series PS121700 217700 Apr 4 2020 8671 SLC4A4 C1970309 Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation NCBI curation 604278 May 26 2016 55065 SLC52A1 C0035528 Maternal riboflavin deficiency MONDO MONDO:0014013 615026 Apr 17 2020 79581 SLC52A2 C3553538 Brown-Vialetto-Van Laere syndrome 2 NCBI curation 614707 Feb 16 2016 113278 SLC52A3 CN029849 Brown-Vialetto-Van Laere syndrome 1 NCBI curation 211530 Jun 10 2016 113278 SLC52A3 C0015708 Progressive bulbar palsy of childhood 211500 Feb 16 2016 6523 SLC5A1 C0268186 Congenital glucose-galactose malabsorption NCBI curation 606824 Feb 16 2016 6524 SLC5A2 C0017980 Familial renal glucosuria NCBI curation 233100 Feb 16 2016 6528 SLC5A5 C1848805 Thyroid dyshormonogenesis 1 NCBI curation 274400 Feb 16 2016 60482 SLC5A7 C1834703 Neuronopathy, distal hereditary motor, type viia NCBI curation 158580 Aug 24 2016 60482 SLC5A7 C0751882 Congenital myasthenic syndrome NCBI curation Feb 16 2016 60482 SLC5A7 C4310694 Myasthenic syndrome, congenital, 20, presynaptic NCBI curation 617143 Nov 3 2016 6529 SLC6A1 C4085238 Myoclonic-atonic epilepsy NCBI curation 616421 Feb 16 2016 388662 SLC6A17 C4225395 Mental retardation, autosomal recessive 48 NCBI curation 616269 Feb 16 2016 340024 SLC6A19 C0018609 Neutral 1 amino acid transport defect NCBI curation 234500 Feb 16 2016 340024 SLC6A19 C0543541 Hyperglycinuria Human Phenotype Ontology HP:0003108 138500 Feb 16 2016 340024 SLC6A19 C0268654 Iminoglycinuria 242600 Feb 16 2016 6530 SLC6A2 C1535893 Orthostatic intolerance NCBI curation 604715 Nov 6 2017 54716 SLC6A20 C0268654 Iminoglycinuria 242600 Feb 16 2016 54716 SLC6A20 C0543541 Hyperglycinuria Human Phenotype Ontology HP:0003108 138500 Feb 16 2016 6531 SLC6A3 C1861063 Tobacco addiction, susceptibility to NCBI curation 188890 Feb 16 2016 6531 SLC6A3 C4747621 Parkinsonism-dystonia, infantile, 1 NCBI curation 613135 Dec 30 2019 6532 SLC6A4 C0028768 Obsessive-compulsive disorder NCBI curation 164230 Feb 16 2016 6532 SLC6A4 C0003467 Anxiety Human Phenotype Ontology HP:0000739 607834 Feb 16 2016 9152 SLC6A5 C3553288 Hyperekplexia 3 NCBI curation 614618 Feb 16 2016 6535 SLC6A8 C1845862 Creatine transporter deficiency MONDO MONDO:0010305 300352 Apr 17 2020 6536 SLC6A9 C4310943 Glycine encephalopathy with normal serum glycine NCBI curation 617301 Jun 20 2017 57709 SLC7A14 C3810380 Retinitis pigmentosa 68 NCBI curation 615725 Feb 16 2016 9056 SLC7A7 C0268647 Lysinuric protein intolerance 222700 Feb 16 2016 11136 SLC7A9 C0010691 Cystinuria Human Phenotype Ontology HP:0003131 220100 Feb 16 2016 6548 SLC9A1 C4225383 Lichtenstein-knorr syndrome NCBI curation 616291 Feb 16 2016 6550 SLC9A3 CN515063 Diarrhea 8, secretory sodium, congenital NCBI curation 616868 Oct 8 2017 9368 SLC9A3R1 C2676782 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 NCBI curation 612287 Feb 16 2016 10479 SLC9A6 C2678194 Christianson syndrome 300243 Feb 16 2016 84679 SLC9A7 C5193009 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 OMIM 301024 301024 Apr 7 2019 285195 SLC9A9 C3150677 Autism 16 NCBI curation 613410 Feb 16 2016 10599 SLCO1B1 CN128903 Simvastatin response NCBI curation Feb 16 2016 10599 SLCO1B1 CN181199 Statin-induced myopathy NCBI curation Feb 16 2016 10599 SLCO1B1 C0220991 Rotor syndrome 237450 Feb 16 2016 28234 SLCO1B3 C0220991 Rotor syndrome 237450 Feb 16 2016 6578 SLCO2A1 C3280800 Primary hypertrophic osteoarthropathy, autosomal recessive 2 NCBI curation 614441 Feb 16 2016 342618 SLFN14 C4310797 Platelet-type bleeding disorder 20 NCBI curation 616913 Apr 24 2016 114798 SLITRK1 C0040953 Trichotillomania MONDO MONDO:0013189 613229 Apr 17 2020 114798 SLITRK1 C0040953 Trichotillomania Human Phenotype Ontology HP:0012167 613229 Apr 17 2020 114798 SLITRK1 C0040517 Tourette Syndrome GeneReviews NBK21138 137580 Feb 16 2016 84189 SLITRK6 C3806275 Deafness and myopia NCBI curation 221200 Aug 24 2016 57152 SLURP1 C0025221 Acroerythrokeratoderma 248300 Feb 16 2016 84464 SLX4 C3469542 Fanconi anemia, complementation group P NCBI curation 613951 Feb 16 2016 4088 SMAD3 C3151087 Loeys-Dietz syndrome 3 NCBI curation 613795 Feb 16 2016 4088 SMAD3 C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 Apr 27 2020 4088 SMAD3 C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 Apr 27 2020 4089 SMAD4 C0235974 Carcinoma of pancreas NCBI curation 260350 Feb 16 2016 4089 SMAD4 C0796081 Myhre syndrome NCBI curation 139210 Feb 16 2016 4089 SMAD4 C0345893 Juvenile polyposis syndrome NCBI curation 174900 Feb 16 2016 4089 SMAD4 C1832942 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NCBI curation 175050 Feb 16 2016 4091 SMAD6 C4479496 Craniosynostosis 7 NCBI curation 617439 Jun 20 2017 4091 SMAD6 C3542024 Aortic valve disease 2 NCBI curation 614823 Feb 16 2016 4092 SMAD7 C2677123 Colorectal cancer 3 NCBI curation 612229 Feb 16 2016 4093 SMAD9 C3888002 Primary pulmonary hypertension 2 NCBI curation 615342 Feb 16 2016 6595 SMARCA2 C1303073 Nicolaides-Baraitser syndrome 601358 Feb 16 2016 6597 SMARCA4 C3553249 Mental retardation, autosomal dominant 16 NCBI curation 614609 Feb 16 2016 6597 SMARCA4 C2750074 Rhabdoid tumor predisposition syndrome 2 NCBI curation 613325 Feb 16 2016 56916 SMARCAD1 C0406707 Basan syndrome 129200 Feb 16 2016 56916 SMARCAD1 C1852150 Adermatoglyphia Human Phenotype Ontology HP:0007455 136000 Feb 16 2016 56916 SMARCAD1 C0406767 Keratoderma with scleroatrophy of the extremities 181600 Feb 16 2016 50485 SMARCAL1 C0877024 Schimke immuno-osseous dysplasia MONDO MONDO:0009458 242900 Apr 17 2020 6598 SMARCB1 C3553248 Mental retardation, autosomal dominant 15 NCBI curation 614608 Feb 16 2016 6598 SMARCB1 C4048809 Schwannomatosis 1 NCBI curation 162091 Oct 23 2016 6598 SMARCB1 C1836327 Rhabdoid tumor predisposition syndrome 1 NCBI curation 609322 Feb 16 2016 6598 SMARCB1 C1335929 Schwannomatosis OMIM phenotypic series PS162091 Oct 23 2016 6601 SMARCC2 C5193054 COFFIN-SIRIS SYNDROME 8 OMIM 618362 618362 Mar 21 2019 6602 SMARCD1 CN263286 COFFIN-SIRIS SYNDROME 11 OMIM 618779 618779 Feb 21 2020 6603 SMARCD2 C4479548 Specific granule deficiency 2 NCBI curation 617475 Jun 20 2017 6605 SMARCE1 C4310788 Coffin-Siris syndrome 5 NCBI curation 616938 Sep 22 2016 6605 SMARCE1 C3551915 Meningioma, familial NCBI curation 607174 Feb 16 2016 8243 SMC1A C1802395 Congenital muscular hypertrophy-cerebral syndrome 300590 Feb 16 2016 8243 SMC1A CN272932 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS OMIM 301044 301044 Apr 16 2020 9126 SMC3 C1853099 Cornelia de Lange syndrome 3 NCBI curation 610759 Feb 16 2016 23347 SMCHD1 C1863878 Arhinia choanal atresia microphthalmia 603457 Feb 16 2016 23347 SMCHD1 C1834671 Facioscapulohumeral muscular dystrophy 2 NCBI curation 158901 Feb 16 2016 56006 SMG9 C4310793 Heart and brain malformation syndrome NCBI curation 616920 May 26 2016 388588 SMIM1 C2745907 Vel blood group system NCBI curation 615264 Feb 16 2016 6606 SMN1 C0393538 Spinal muscular atrophy, type II 253550 Feb 16 2016 6606 SMN1 C0152109 Kugelberg-Welander disease 253400 Feb 16 2016 6606 SMN1 C1838230 Adult spinal muscular atrophy MONDO MONDO:0010056 271150 Apr 17 2020 6606 SMN1 C0043116 Werdnig-Hoffmann disease 253300 Feb 16 2016 6607 SMN2 C0152109 Kugelberg-Welander disease 253400 Feb 16 2016 10285 SMNDC1 C0026847 Spinal muscular atrophy Human Phenotype Ontology HP:0007269 Feb 16 2016 6608 SMO C0795915 Curry-Jones syndrome MONDO MONDO:0011134 601707 Apr 22 2020 6608 SMO C2751544 BCC1 MONDO MONDO:0011556 605462 Apr 17 2020 6608 SMO C2751544 BCC1 OMIM 605462 605462 Apr 17 2020 64093 SMOC1 C0599973 Microphthalmia with limb anomalies MONDO MONDO:0008800 206920 Apr 22 2020 64094 SMOC2 C0399379 Dentin dysplasia, type 1 NCBI curation 125400 Jan 3 2020 6609 SMPD1 C0268243 Niemann-Pick disease, type B NCBI curation 607616 Feb 16 2016 6609 SMPD1 C0268242 Niemann-Pick disease, type A 257200 Feb 16 2016 55627 SMPD4 C5231431 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES OMIM 618622 618622 Oct 18 2019 23676 SMPX C1848204 Deafness, X-linked 4 NCBI curation 300066 Feb 16 2016 23676 SMPX C0236038 Hereditary hearing loss and deafness NCBI curation Feb 16 2016 6611 SMS C0796160 Syndromic X-linked intellectual disability Snyder type MONDO MONDO:0010664 309583 Apr 17 2020 6591 SNAI2 C1837203 Waardenburg syndrome type 2D NCBI curation 608890 Feb 16 2016 6591 SNAI2 C0080024 Partial albinism Human Phenotype Ontology HP:0007443 172800 Feb 16 2016 6616 SNAP25 C4225364 Myasthenic syndrome, congenital, 18 NCBI curation 616330 Feb 16 2016 9342 SNAP29 C1836033 CEDNIK syndrome MONDO MONDO:0012290 609528 Apr 22 2020 6622 SNCA C1854182 Parkinson disease 4 NCBI curation 605543 Feb 16 2016 6622 SNCA C1868595 Parkinson disease 1 NCBI curation 168601 Feb 16 2016 6622 SNCA C0752347 Lewy body dementia NCBI curation 127750 Jun 26 2020 9627 SNCAIP C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 6620 SNCB C0752347 Lewy body dementia NCBI curation 127750 Jun 26 2020 79753 SNIP1 C3281055 Psychomotor retardation, epilepsy, and craniofacial dysmorphism NCBI curation 614501 Feb 16 2016 338433 SNORD115-1 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 100033413 SNORD116-1 C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 727676 SNORD118 C3281200 Leukoencephalopathy, brain calcifications, and cysts NCBI curation 614561 Feb 16 2016 23020 SNRNP200 C1835895 Retinitis pigmentosa 33 NCBI curation 610359 Feb 16 2016 6628 SNRPB C0265342 Cerebro-costo-mandibular syndrome 117650 Feb 16 2016 6635 SNRPE C3554409 Hypotrichosis 11 NCBI curation 615059 Feb 16 2016 6638 SNRPN C0032897 Prader-Willi syndrome NCBI curation 176270 Feb 16 2016 6638 SNRPN C0004352 Autistic disorder of childhood onset NCBI curation 209850 Feb 16 2016 6640 SNTA1 C2751830 Long QT syndrome 12 NCBI curation 612955 Feb 16 2016 29887 SNX10 C3554478 Osteopetrosis, autosomal recessive 8 NCBI curation 615085 Feb 16 2016 57231 SNX14 C4225355 Spinocerebellar ataxia, autosomal recessive 20 NCBI curation 616354 Feb 16 2016 55084 SOBP C3150924 Mental retardation, anterior maxillary protrusion, and strabismus NCBI curation 613671 Feb 16 2016 6647 SOD1 C1862939 Amyotrophic lateral sclerosis type 1 NCBI curation 105400 Feb 16 2016 6647 SOD1 C5231422 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE OMIM 618598 618598 Sep 27 2019 6648 SOD2 C2675128 Microvascular complications of diabetes 6 NCBI curation 612634 Feb 16 2016 402381 SOHLH1 C4540141 OVARIAN DYSGENESIS 5 OMIM 617690 617690 Sep 27 2017 402381 SOHLH1 C4748253 SPERMATOGENIC FAILURE 32 OMIM 618115 618115 Sep 13 2018 6651 SON C4310696 ZTTK syndrome NCBI curation 617140 Jun 20 2017 6652 SORD CN282601 SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY OMIM 618912 618912 Jun 21 2020 6272 SORT1 C3150834 Low density lipoprotein cholesterol level quantitative trait locus 6 NCBI curation 613589 Feb 16 2016 6654 SOS1 C4551558 Gingival fibromatosis 1 NCBI curation 135300 Feb 16 2016 6654 SOS1 C1853120 Noonan syndrome 4 NCBI curation 610733 Feb 16 2016 6655 SOS2 C4225282 Noonan syndrome 9 NCBI curation 616559 Feb 16 2016 50964 SOST C0432272 Hyperphosphatasemia tarda 239100 Feb 16 2016 50964 SOST C4551483 Sclerosteosis 1 NCBI curation 269500 Oct 27 2017 50964 SOST C2675746 Craniodiaphyseal dysplasia, autosomal dominant NCBI curation 122860 Feb 16 2016 6663 SOX10 C2750452 Waardenburg syndrome type 4C NCBI curation 613266 Feb 16 2016 6663 SOX10 C1836727 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease NCBI curation 609136 Feb 16 2016 6663 SOX10 C2700405 Waardenburg syndrome type 2E NCBI curation 611584 Feb 16 2016 6664 SOX11 C4014528 Mental retardation, autosomal dominant 27 NCBI curation 615866 Feb 16 2016 64321 SOX17 C3150927 Vesicoureteral reflux 3 NCBI curation 613674 Feb 16 2016 54345 SOX18 C4317151 Glomerulonephritis with sparse hair and telangiectases 137940 Feb 16 2016 54345 SOX18 C1843004 Hypotrichosis-lymphedema-telangiectasia syndrome NCBI curation 607823 Feb 16 2016 6657 SOX2 C1859773 Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO MONDO:0008799 206900 Apr 17 2020 6658 SOX3 C0342376 Panhypopituitarism, X-linked MONDO MONDO:0010712 312000 Apr 22 2020 6658 SOX3 C2678223 Mental retardation with panhypopituitarism, X-linked NCBI curation 300123 Feb 16 2016 6659 SOX4 C4760583 COFFIN-SIRIS SYNDROME 10 OMIM 618506 618506 Jul 18 2019 6660 SOX5 C4225202 Lamb-shaffer syndrome NCBI curation 616803 Feb 16 2016 6662 SOX9 C1861922 Camptomelic dysplasia 114290 Feb 16 2016 3431 SP110 C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 3431 SP110 C1856128 Hepatic veno-occlusive disease-immunodeficiency syndrome MONDO MONDO:0009338 235550 Apr 17 2020 121340 SP7 C3151433 Osteogenesis imperfecta type 12 NCBI curation 613849 Sep 28 2016 6674 SPAG1 C3809706 Ciliary dyskinesia, primary, 28 NCBI curation 615505 Feb 16 2016 6678 SPARC C4225301 Osteogenesis imperfecta, type xvii NCBI curation 616507 Aug 24 2016 23111 SPART C0393559 Troyer syndrome 275900 Feb 16 2016 6683 SPAST C1866855 Spastic paraplegia 4, autosomal dominant NCBI curation 182601 Feb 16 2016 83893 SPATA16 C0403825 Globozoospermia Human Phenotype Ontology HP:0012205 102530 Feb 16 2016 166378 SPATA5 C4225276 Epilepsy, hearing loss, and mental retardation syndrome NCBI curation 616577 Feb 16 2016 55812 SPATA7 C1858677 Leber congenital amaurosis 3 NCBI curation 604232 Feb 16 2016 23384 SPECC1L C0796179 Hypertelorism, Teebi type NCBI curation 145420 Oct 29 2018 23384 SPECC1L C1838348 Oculomaxillofacial dysostosis 600251 Feb 16 2016 23384 SPECC1L C1801950 Opitz GBBB syndrome, type II NCBI curation 145410 Jan 10 2020 79925 SPEF2 C5231490 SPERMATOGENIC FAILURE 43 OMIM 618751 618751 Jan 29 2020 10290 SPEG C4014814 Myopathy, centronuclear, 5 NCBI curation 615959 Feb 16 2016 80208 SPG11 C1858479 Spastic paraplegia 11, autosomal recessive NCBI curation 604360 Feb 16 2016 80208 SPG11 C1865864 Amyotrophic lateral sclerosis type 5 NCBI curation 602099 Feb 16 2016 80208 SPG11 C4225253 Charcot-Marie-Tooth disease, axonal type 2X NCBI curation 616668 Feb 16 2016 51324 SPG21 C1855346 Mast syndrome NCBI curation 248900 Feb 16 2016 6687 SPG7 C1846564 Hereditary spastic paraplegia 7 MONDO MONDO:0011803 607259 Apr 17 2020 6690 SPINK1 C1842402 Tropical calcific pancreatitis NCBI curation 608189 Feb 16 2016 6690 SPINK1 C0238339 Hereditary pancreatitis NCBI curation 167800 Feb 16 2016 6691 SPINK2 C4748142 Spermatogenic failure 29 NCBI curation 618091 Sep 21 2018 11005 SPINK5 C0265962 Netherton syndrome 256500 Feb 16 2016 10653 SPINT2 C0267663 Congenital secretory diarrhea, sodium type 270420 Feb 16 2016 124976 SPNS2 C5193108 DEAFNESS, AUTOSOMAL RECESSIVE 115 OMIM 618457 618457 Jun 5 2019 8405 SPOP CN272910 Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies MONDO MONDO:0032943 618829 May 28 2020 8405 SPOP CN272909 Neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO MONDO:0032942 618828 May 28 2020 6697 SPR C0268468 Dopa-responsive dystonia due to sepiapterin reductase deficiency NCBI curation 612716 Mar 29 2020 161742 SPRED1 C1969623 Legius syndrome 611431 Feb 16 2016 83932 SPRTN C4015461 Ruijs-Aalfs syndrome NCBI curation 616200 Dec 24 2016 10253 SPRY2 C4225194 IgA nephropathy, susceptibility to, 3 NCBI curation 616818 Oct 23 2016 81848 SPRY4 C3808971 Hypogonadotropic hypogonadism 17 with or without anosmia NCBI curation 615266 Feb 16 2016 81848 SPRY4 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 6708 SPTA1 C1851741 Elliptocytosis 2 NCBI curation 130600 Feb 16 2016 6708 SPTA1 C0520739 Hereditary pyropoikilocytosis 266140 Feb 16 2016 6708 SPTA1 C2678338 Spherocytosis type 3 NCBI curation 270970 Feb 16 2016 6709 SPTAN1 C3150731 Early infantile epileptic encephalopathy 5 NCBI curation 613477 Feb 16 2016 6710 SPTB C1866810 Elliptocytosis 3 NCBI curation 617948 Apr 17 2016 6710 SPTB C2674219 Spherocytosis type 2 NCBI curation 616649 Feb 16 2016 6712 SPTBN2 C3809327 Spinocerebellar ataxia, autosomal recessive 14 NCBI curation 615386 Feb 16 2016 6712 SPTBN2 C0752123 Spinocerebellar ataxia type 5 MONDO MONDO:0010848 600224 Apr 22 2020 57731 SPTBN4 C4479603 Myopathy, congenital, with neuropathy and deafness NCBI curation 617519 Jun 20 2017 10558 SPTLC1 C0020071 Neuropathy hereditary sensory and autonomic type 1 162400 Feb 16 2016 9517 SPTLC2 C3150896 Hereditary sensory and autonomic neuropathy type IC NCBI curation 613640 Feb 16 2016 8878 SQSTM1 C4225326 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 NCBI curation 616437 Feb 16 2016 8878 SQSTM1 CN239822 Distal myopathy with rimmed vacuoles NCBI curation 617158 Jan 1 2017 8878 SQSTM1 C4310693 Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset NCBI curation 617145 Jun 20 2017 8878 SQSTM1 C4085252 Paget disease of bone 3 MONDO MONDO:0008176 167250 Apr 22 2020 10011 SRA1 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 6714 SRC C4310789 Thrombocytopenia 6 NCBI curation 616937 Sep 18 2016 6714 SRC C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 10847 SRCAP C0729582 Floating-Harbor syndrome 136140 Feb 16 2016 6716 SRD5A2 C0268297 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 264600 Feb 16 2016 79644 SRD5A3 C4317224 Congenital disorder of glycosylation type 1Q NCBI curation 612379 Feb 16 2016 79644 SRD5A3 C2675185 Kahrizi syndrome NCBI curation 612713 Feb 16 2016 57522 SRGAP1 C4225426 Follicular thyroid carcinoma Human Phenotype Ontology HP:0006731 188470 Apr 4 2018 6729 SRP54 C0272170 Shwachman syndrome Feb 6 2020 6729 SRP54 C5203411 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT OMIM 618752 618752 Feb 2 2020 6729 SRP54 C4692625 Shwachman-Diamond syndrome 1 NCBI curation 260400 Feb 6 2020 6731 SRP72 C3808553 Bone marrow failure syndrome 1 NCBI curation 614675 Aug 24 2016 27286 SRPX2 C1845070 Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked NCBI curation 300643 Feb 16 2016 6736 SRY C2748895 46,XX sex reversal, type 1 NCBI curation 400045 Feb 16 2016 6736 SRY C2748896 46,XY sex reversal, type 1 NCBI curation 400044 Feb 16 2016 6748 SSR4 C4012395 Congenital disorder of glycosylation type 1y NCBI curation 300934 Feb 16 2016 6748 SSR4 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 Feb 16 2016 6756 SSX1 C0039101 Synovial sarcoma Human Phenotype Ontology HP:0012570 300813 Feb 16 2016 6757 SSX2 C0039101 Synovial sarcoma Human Phenotype Ontology HP:0012570 300813 Feb 16 2016 6768 ST14 C1835851 Ichthyosis, congenital, autosomal recessive 11 NCBI curation 602400 Aug 24 2016 6487 ST3GAL3 C1970200 Mental retardation, autosomal recessive 12 NCBI curation 611090 Feb 16 2016 6487 ST3GAL3 C3554316 Early infantile epileptic encephalopathy 15 NCBI curation 615006 Feb 16 2016 8869 ST3GAL5 C1836824 Salt and pepper developmental regression syndrome NCBI curation 609056 Oct 29 2018 246329 STAC3 C1850625 Bailey-Bloch congenital myopathy NCBI curation 255995 Apr 11 2020 10274 STAG1 C4539951 Intellectual disability, autosomal dominant 47 MONDO MONDO:0030912 617635 May 27 2020 10735 STAG2 C5193008 MULLEGAMA-KLEIN-MARTINEZ SYNDROME OMIM 301022 301022 Oct 25 2019 10735 STAG2 CN272930 HOLOPROSENCEPHALY 13, X-LINKED OMIM 301043 301043 Apr 15 2020 10734 STAG3 C3810367 Premature ovarian failure 8 NCBI curation 615723 Feb 16 2016 10617 STAMBP C3280296 Microcephaly-capillary malformation syndrome NCBI curation 614261 Feb 16 2016 6770 STAR C0342474 Cholesterol monooxygenase (side-chain cleaving) deficiency 201710 Feb 16 2016 56910 STARD7 C1842852 Epilepsy, familial adult myoclonic 2 NCBI curation 607876 Feb 16 2016 6772 STAT1 C4013950 Immunodeficiency 31a NCBI curation 614892 Feb 16 2016 6772 STAT1 C3279990 Immunodeficiency 31C NCBI curation 614162 Feb 16 2016 6772 STAT1 C3151088 Mycobacterial and viral infections, susceptibility to, autosomal recessive NCBI curation 613796 Feb 16 2016 6773 STAT2 C4225260 Immunodeficiency 44 NCBI curation 616636 Feb 16 2016 6773 STAT2 CN280969 PSEUDO-TORCH SYNDROME 3 OMIM 618886 618886 May 28 2020 6774 STAT3 C4014795 Autoimmune disease, multisystem, infantile-onset, 1 NCBI curation 615952 Aug 24 2016 6774 STAT3 C4721531 Hyper-IgE recurrent infection syndrome 1, autosomal dominant NCBI curation 147060 Nov 10 2019 6775 STAT4 C2677096 Systemic lupus erythematosus 11 NCBI curation 612253 Feb 16 2016 6777 STAT5B C1855548 Laron syndrome with immunodeficiency MONDO MONDO:0009510 245590 Apr 17 2020 55240 STEAP3 C3808920 Hypochromic microcytic anemia with iron overload 2 NCBI curation 615234 Feb 16 2016 6491 STIL C2675187 Primary autosomal recessive microcephaly 7 NCBI curation 612703 Feb 16 2016 6786 STIM1 C2748557 Combined immunodeficiency due to STIM1 deficiency MONDO MONDO:0013008 612783 Apr 17 2020 6786 STIM1 C1861451 Stormorken syndrome NCBI curation 185070 Feb 16 2016 6786 STIM1 C4011726 Myopathy, tubular aggregate, 1 NCBI curation 160565 Jan 18 2020 340061 STING1 C4014722 Sting-associated vasculopathy, infantile-onset NCBI curation 615934 Feb 16 2016 6794 STK11 C0153594 Malignant tumor of testis NCBI curation 273300 Feb 16 2016 6794 STK11 C0235974 Carcinoma of pancreas NCBI curation 260350 Feb 16 2016 6794 STK11 C0031269 Peutz-Jeghers syndrome NCBI curation 175200 Feb 16 2016 6789 STK4 C3553943 T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations NCBI curation 614868 Feb 16 2016 79991 STN1 C4479220 Cerebroretinal microangiopathy with calcifications and cysts 2 NCBI curation 617341 Jun 20 2017 219736 STOX1 C1836255 Preeclampsia/eclampsia 4 NCBI curation 609404 Feb 16 2016 64220 STRA6 C1832661 Microphthalmia syndromic 9 601186 Feb 16 2016 92335 STRADA C1970203 Polyhydramnios, megalencephaly, and symptomatic epilepsy NCBI curation 611087 Feb 16 2016 161497 STRC C1863561 Deafness, autosomal recessive 16 NCBI curation 603720 Feb 16 2016 161497 STRC C1970187 Deafness-infertility syndrome NCBI curation 611102 May 27 2016 161497 STRC C2751811 Spermatogenic failure 7 MONDO MONDO:0013070 612997 Apr 22 2020 412 STS C0079588 X-linked ichthyosis with steryl-sulfatase deficiency NCBI curation 308100 Feb 16 2016 3703 STT3A C3810062 Congenital disorder of glycosylation type 1w NCBI curation 615596 Feb 16 2016 201595 STT3B C2931007 Congenital disorder of glycosylation type 1x NCBI curation 615597 Feb 16 2016 10273 STUB1 C4014261 Spinocerebellar ataxia, autosomal recessive 16 NCBI curation 615768 Feb 16 2016 10273 STUB1 C4748158 SPINOCEREBELLAR ATAXIA 48 OMIM 618093 618093 Nov 8 2018 8676 STX11 C1863728 Familial hemophagocytic lymphohistiocytosis 4 MONDO MONDO:0011336 603552 Apr 22 2020 8675 STX16 C1864100 Pseudohypoparathyroidism type 1B 603233 Feb 16 2016 112755 STX1B C4015395 Generalized epilepsy with febrile seizures plus, type 9 NCBI curation 616172 Feb 16 2016 6812 STXBP1 C2677326 Early infantile epileptic encephalopathy 4 NCBI curation 612164 Feb 16 2016 6813 STXBP2 C2751293 Hemophagocytic lymphohistiocytosis, familial, 5 NCBI curation 613101 Feb 16 2016 8803 SUCLA2 C2749864 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) NCBI curation 612073 Feb 16 2016 8802 SUCLG1 C3151476 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) NCBI curation 245400 Feb 16 2016 51684 SUFU C4540342 JOUBERT SYNDROME 32 OMIM 617757 617757 Nov 9 2017 51684 SUFU C3551915 Meningioma, familial NCBI curation 607174 Feb 16 2016 51684 SUFU C0025149 Medulloblastoma Human Phenotype Ontology HP:0002885 155255 Feb 16 2016 51684 SUFU C0004779 Gorlin syndrome NCBI curation 109400 Feb 16 2016 79783 SUGCT C0342873 Glutaryl-CoA oxidase deficiency 231690 Feb 16 2016 6820 SULT2B1 C4539754 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 OMIM 617571 617571 Jul 15 2017 285362 SUMF1 C0268263 Multiple sulfatase deficiency 272200 Feb 16 2016 7341 SUMO1 C1866070 Orofacial cleft 10 NCBI curation 613705 Feb 16 2016 387082 SUMO4 C1838260 Diabetes mellitus, insulin-dependent, 5 NCBI curation 600320 Feb 16 2016 140732 SUN5 C4310674 Spermatogenic failure 16 NCBI curation 617187 Jun 20 2017 6821 SUOX C2931746 Sulfite oxidase deficiency Human Phenotype Ontology HP:0003643 272300 Feb 16 2016 6834 SURF1 C0023264 Leigh syndrome Orphanet ORPHA506 256000 Feb 16 2016 6834 SURF1 C4225246 Charcot-Marie-Tooth disease, type 4k NCBI curation 616684 Feb 16 2016 23512 SUZ12 CN263292 IMAGAWA-MATSUMOTO SYNDROME OMIM 618786 618786 Feb 23 2020 374969 SVBP C5231413 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY OMIM 618569 618569 Sep 11 2019 93426 SYCE1 C4310779 Spermatogenic failure 15 NCBI curation 616950 Jun 1 2016 93426 SYCE1 C4310782 Premature ovarian failure 12 NCBI curation 616947 Jun 1 2016 10388 SYCP2 C0403810 Oligosynaptic infertility 258150 Feb 16 2016 50511 SYCP3 C0232981 Spermatogenic failure 4 MONDO MONDO:0010052 270960 Apr 22 2020 6853 SYN1 C1845343 Epilepsy, X-linked, with variable learning disabilities and behavior disorders NCBI curation 300491 Feb 16 2016 6854 SYN2 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 Feb 16 2016 23345 SYNE1 C5193121 ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE OMIM 618484 618484 Jul 13 2019 23345 SYNE1 C1853116 Spinocerebellar ataxia, autosomal recessive 8 NCBI curation 610743 Feb 16 2016 23345 SYNE1 C2751807 Emery-Dreifuss muscular dystrophy 4, autosomal dominant NCBI curation 612998 Feb 16 2016 23224 SYNE2 C2751805 Emery-Dreifuss muscular dystrophy 5, autosomal dominant NCBI curation 612999 Feb 16 2016 163183 SYNE4 C3147083 Deafness, autosomal recessive 76 NCBI curation 615540 Feb 16 2016 8831 SYNGAP1 C2675473 Mental retardation, autosomal dominant 5 NCBI curation 612621 Feb 16 2016 8867 SYNJ1 C4479313 Epileptic encephalopathy, early infantile, 53 NCBI curation 617389 Jun 20 2017 8867 SYNJ1 C3809824 Parkinson disease 20, early-onset NCBI curation 615530 Feb 16 2016 6855 SYP C3275408 Mental retardation, X-linked 96 NCBI curation 300802 Feb 16 2016 6857 SYT1 C4748715 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome MONDO MONDO:0033864 618218 Apr 17 2020 255928 SYT14 C3280226 Spinocerebellar ataxia, autosomal recessive 11 NCBI curation 614229 Feb 16 2016 127833 SYT2 C4015038 Myasthenic syndrome, congenital, 7, presynaptic NCBI curation 616040 Aug 24 2016 23334 SZT2 C3809624 Early infantile epileptic encephalopathy 18 NCBI curation 615476 Feb 16 2016 23118 TAB2 C3554279 Congenital heart defects, multiple types, 2 NCBI curation 614980 Aug 24 2016 6866 TAC3 C3553843 Hypogonadotropic hypogonadism 10 with or without anosmia NCBI curation 614839 Feb 16 2016 51204 TACO1 C0268237 Mitochondrial complex IV deficiency NCBI curation 220110 Apr 4 2020 6870 TACR3 C3553844 Hypogonadotropic hypogonadism 11 with or without anosmia NCBI curation 614840 Feb 16 2016 4070 TACSTD2 C0339273 Lattice corneal dystrophy Type III NCBI curation 204870 Feb 16 2016 6872 TAF1 C4225418 Mental retardation, X-linked, syndromic 33 NCBI curation 300966 Feb 16 2016 6872 TAF1 C1839130 X-linked dystonia-parkinsonism MONDO MONDO:0010747 314250 Apr 22 2020 6884 TAF13 C4479476 Mental retardation, autosomal recessive 60 NCBI curation 617432 Jun 20 2017 8148 TAF15 C1275278 Extraskeletal myxoid chondrosarcoma MONDO MONDO:0012825 612237 Apr 22 2020 6873 TAF2 C3810080 Mental retardation, autosomal recessive 40 NCBI curation 615599 Feb 16 2016 6875 TAF4B C4014449 Spermatogenic failure 13 NCBI curation 615841 Feb 16 2016 6878 TAF6 C4310702 Alazami-Yuan syndrome NCBI curation 617126 Jun 20 2017 6886 TAL1 C0023449 Acute lymphoid leukemia NCBI curation 613065 Sep 22 2016 6887 TAL2 C0023449 Acute lymphoid leukemia NCBI curation 613065 Sep 22 2016 6888 TALDO1 C1291329 Deficiency of transaldolase 606003 Feb 16 2016 26115 TANC2 CN282600 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES OMIM 618906 618906 Jun 21 2020 128989 TANGO2 C4225171 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION OMIM 616878 616878 May 11 2019 6890 TAP1 C1858266 Bare lymphocyte syndrome type 1 NCBI curation 604571 Feb 16 2016 6891 TAP2 C1858266 Bare lymphocyte syndrome type 1 NCBI curation 604571 Feb 16 2016 6892 TAPBP C1858266 Bare lymphocyte syndrome type 1 NCBI curation 604571 Feb 16 2016 202018 TAPT1 C4225162 Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type NCBI curation 616897 Apr 15 2018 23435 TARDBP C3150169 TARDBP-related frontotemporal dementia NCBI curation Feb 16 2016 23435 TARDBP C2677565 Amyotrophic lateral sclerosis type 10 612069 Feb 16 2016 6897 TARS1 C5231403 TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE OMIM 618546 618546 Aug 21 2019 80222 TARS2 C4014668 Combined oxidative phosphorylation deficiency 21 NCBI curation 615918 Feb 16 2016 50833 TAS2R16 C4693750 BETA-GLUCOPYRANOSIDE TASTING OMIM 617956 617956 May 4 2018 5726 TAS2R38 C1868397 Thiourea tasting NCBI curation 171200 Feb 16 2016 6898 TAT C0268487 Tyrosinemia type II MONDO MONDO:0010160 276600 Apr 22 2020 6901 TAZ C0574083 3-Methylglutaconic aciduria type 2 NCBI curation 302060 Feb 16 2016 6901 TAZ C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 128637 TBC1D20 C3810265 Warburg micro syndrome 4 NCBI curation 615663 Feb 16 2016 55773 TBC1D23 C4540164 PONTOCEREBELLAR HYPOPLASIA, TYPE 11 OMIM 617695 617695 Oct 1 2017 57465 TBC1D24 C0917800 Myoclonic epilepsy, familial infantile NCBI curation 605021 Feb 16 2016 57465 TBC1D24 C2829265 Deafness, autosomal recessive 86 NCBI curation 614617 Feb 16 2016 57465 TBC1D24 C1842531 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome MONDO MONDO:0011970 608105 Apr 17 2020 57465 TBC1D24 C0795934 DOORS syndrome NCBI curation 220500 Mar 29 2019 57465 TBC1D24 C3892048 Deafness, autosomal dominant 65 NCBI curation 616044 Feb 16 2016 57465 TBC1D24 C3809173 Early infantile epileptic encephalopathy 16 NCBI curation 615338 Feb 16 2016 9882 TBC1D4 C4015183 Diabetes mellitus, noninsulin-dependent, 5 NCBI curation 616087 Feb 16 2016 51256 TBC1D7 C3806412 Macrocephaly/megalencephaly syndrome, autosomal recessive NCBI curation 248000 Mar 5 2019 54885 TBC1D8B C5193011 NEPHROTIC SYNDROME, TYPE 20 OMIM 301028 301028 Jul 13 2019 6904 TBCD C4310671 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum NCBI curation 617193 Jun 20 2017 6905 TBCE C4310667 Encephalopathy, progressive, with amyotrophy and optic atrophy NCBI curation 617207 Jun 20 2017 6905 TBCE C1855648 Autosomal recessive Kenny-Caffey syndrome MONDO MONDO:0009486 244460 Apr 22 2020 6905 TBCE C1855840 Hypoparathyroidism-retardation-dysmorphism syndrome MONDO MONDO:0009426 241410 Apr 22 2020 93627 TBCK C4225161 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 NCBI curation 616900 Dec 11 2018 29110 TBK1 C4225325 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 NCBI curation 616439 Feb 16 2016 29110 TBK1 C4693542 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 OMIM 617900 617900 Mar 16 2018 6907 TBL1X C5231395 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 OMIM 301033 301033 Sep 28 2019 79718 TBL1XR1 C1865644 Pierpont syndrome NCBI curation 602342 Aug 24 2016 79718 TBL1XR1 C4310784 Mental retardation, autosomal dominant 41 NCBI curation 616944 Aug 23 2019 90665 TBL1Y C5193013 Deafness, Y-linked 2 NCBI curation 400047 Aug 11 2019 6908 TBP C3160718 Parkinson disease, late-onset NCBI curation 168600 Feb 16 2016 6908 TBP C1846707 Spinocerebellar ataxia type 17 MONDO MONDO:0011781 607136 Apr 22 2020 10716 TBR1 C1853755 Autism 5 NCBI curation 606053 Feb 16 2016 6899 TBX1 C0012236 DiGeorge sequence NCBI curation 188400 Feb 16 2016 6899 TBX1 C0220704 Shprintzen syndrome NCBI curation 192430 Feb 16 2016 6899 TBX1 C1857586 Conotruncal heart malformations 217095 Feb 16 2016 6899 TBX1 C0039685 Tetralogy of Fallot Human Phenotype Ontology HP:0001636 187500 Feb 16 2016 6913 TBX15 C1850040 Pelviscapular dysplasia MONDO MONDO:0009845 260660 Apr 17 2020 9096 TBX18 C1840451 Congenital anomalies of kidney and urinary tract type 2 MONDO MONDO:0027676 143400 Apr 22 2020 9095 TBX19 C0271583 Adrenocorticotropic hormone deficiency Human Phenotype Ontology HP:0011748 201400 Apr 10 2018 6909 TBX2 C4748741 VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION OMIM 618223 618223 Dec 8 2018 57057 TBX20 C1969657 Atrial septal defect 4 NCBI curation 611363 Feb 16 2016 30009 TBX21 C1859648 Asthma, nasal polyps, and aspirin intolerance NCBI curation 208550 Feb 16 2016 50945 TBX22 C1844862 Abruzzo-Erickson syndrome MONDO MONDO:0010554 302905 Apr 22 2020 50945 TBX22 C1844830 Cleft palate X-linked 303400 Feb 16 2016 6926 TBX3 C1866994 Ulnar-mammary syndrome 181450 Feb 16 2016 9496 TBX4 C1840061 Coxopodopatellar syndrome MONDO MONDO:0007841 147891 Apr 22 2020 9496 TBX4 C1832432 Amelia, autosomal recessive NCBI curation 601360 Feb 16 2016 6910 TBX5 C0265264 Holt-Oram syndrome NCBI curation 142900 Feb 16 2016 6911 TBX6 C4083048 Spondylocostal dysostosis 5 NCBI curation 122600 Feb 16 2016 6915 TBXA2R C3279614 Platelet-type bleeding disorder 13, susceptibility to NCBI curation 614009 Feb 16 2016 6916 TBXAS1 C1856465 Ghosal hematodiaphyseal dysplasia MONDO MONDO:0009274 231095 Apr 22 2020 6862 TBXT C3810343 Sacral agenesis with vertebral anomalies NCBI curation 615709 Feb 16 2016 6862 TBXT C3891448 Neural tube defect Human Phenotype Ontology HP:0045005 182940 Feb 16 2016 8557 TCAP C1866008 Autosomal recessive limb-girdle muscular dystrophy type 2G MONDO MONDO:0011170 601954 Apr 17 2020 8557 TCAP C4225408 Dilated cardiomyopathy 1N NCBI curation C1843791 607487 Feb 16 2016 8557 TCAP C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 8557 TCAP C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation Feb 16 2016 6938 TCF12 C3715051 Craniosynostosis 3 NCBI curation 615314 Feb 16 2016 6942 TCF20 C5193092 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES OMIM 618430 618430 May 22 2019 6929 TCF3 C4310786 Agammaglobulinemia 8, autosomal dominant NCBI curation 616941 Mar 31 2018 6925 TCF4 C2750451 Corneal dystrophy, Fuchs endothelial, 3 NCBI curation 613267 Feb 16 2016 6925 TCF4 C1970431 Pitt-Hopkins syndrome 610954 Feb 16 2016 6934 TCF7L2 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 7062 TCHH C4310648 Uncombable hair syndrome 3 NCBI curation 617252 Jun 20 2017 10312 TCIRG1 C1850127 Autosomal recessive osteopetrosis 1 MONDO MONDO:0009815 259700 Apr 22 2020 6948 TCN2 C0342701 Transcobalamin II deficiency 275350 Feb 16 2016 6949 TCOF1 CN119605 Treacher Collins syndrome 1 NCBI curation 154500 Nov 4 2016 255758 TCTEX1D2 C4479416 Short-rib thoracic dysplasia 17 with or without polydactyly NCBI curation 617405 Jun 20 2017 79600 TCTN1 C3280031 Joubert syndrome 13 NCBI curation 614173 Feb 16 2016 79867 TCTN2 C4084841 Joubert syndrome 24 NCBI curation 616654 Feb 16 2016 79867 TCTN2 C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 79867 TCTN2 C3836857 Meckel syndrome type 8 NCBI curation 613885 Feb 16 2016 26123 TCTN3 C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 26123 TCTN3 C3553758 Joubert syndrome 18 NCBI curation 614815 Feb 16 2016 26123 TCTN3 C0406727 Orofacial-digital syndrome IV 258860 Feb 16 2016 6999 TDO2 C2931837 Hypertryptophanemia, familial NCBI curation 600627 Feb 16 2016 55775 TDP1 C4759870 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 NCBI curation 607250 Jan 3 2020 51567 TDP2 C4310780 Spinocerebellar ataxia, autosomal recessive 23 NCBI curation 616949 Oct 26 2018 23424 TDRD7 C3151304 Cataract, autosomal recessive congenital 4 NCBI curation 613887 Feb 16 2016 122402 TDRD9 C4748224 SPERMATOGENIC FAILURE 30 OMIM 618110 618110 Sep 8 2018 7003 TEAD1 C1862382 Sveinsson chorioretinal atrophy NCBI curation 108985 Feb 16 2016 9895 TECPR2 C3542549 Spastic paraplegia 49, autosomal recessive NCBI curation 615031 Feb 16 2016 9524 TECR C3151462 Mental retardation, autosomal recessive 14 NCBI curation 614020 Feb 16 2016 253017 TECRL C3151463 Ventricular tachycardia, catecholaminergic polymorphic, 3 NCBI curation 614021 Feb 16 2016 7007 TECTA C1832187 Deafness, autosomal dominant 12 NCBI curation 601543 Feb 16 2016 7007 TECTA C1863655 Deafness, autosomal recessive 21 NCBI curation 603629 Feb 16 2016 7010 TEK C4310639 Glaucoma 3, primary congenital, E NCBI curation 617272 Jun 21 2017 7010 TEK C1838437 Multiple Cutaneous and Mucosal Venous Malformations GeneReviews NBK1967 600195 Feb 16 2016 7010 TEK C1832977 Glaucoma 3, primary infantile, b NCBI curation 600975 Feb 16 2016 9894 TELO2 C4310778 You-Hoover-Fong syndrome NCBI curation 616954 Jun 22 2016 55714 TENM3 C3554592 Microphthalmia, isolated, with coloboma 9 NCBI curation 615145 Feb 16 2016 26011 TENM4 C4225223 Tremor, hereditary essential, 5 NCBI curation 616736 Feb 16 2016 55603 TENT5A C4693736 Osteogenesis imperfecta, type 18 MONDO MONDO:0044329 617952 Apr 17 2020 7012 TERC C4551974 Dyskeratosis congenita, autosomal dominant 1 MONDO MONDO:0007485 127550 Apr 22 2020 7012 TERC C3553622 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 NCBI curation 614743 Aug 24 2016 7015 TERT C3151443 Dyskeratosis congenita, autosomal dominant, 2 NCBI curation 613989 Feb 16 2016 7015 TERT C3554574 Cutaneous malignant melanoma 9 NCBI curation 615134 Feb 16 2016 7015 TERT C1800706 Idiopathic fibrosing alveolitis, chronic form 178500 Feb 16 2016 7015 TERT C4551974 Dyskeratosis congenita, autosomal dominant 1 MONDO MONDO:0007485 127550 Apr 22 2020 7015 TERT C0002874 Aplastic anemia Human Phenotype Ontology HP:0001915 609135 Feb 16 2016 7015 TERT C0023467 Acute myeloid leukemia Human Phenotype Ontology HP:0004808 601626 Feb 16 2016 7015 TERT C0023467 Acute myeloid leukemia Orphanet ORPHA519 601626 Feb 16 2016 7015 TERT C3553617 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 NCBI curation 614742 Aug 24 2016 54790 TET2 C3463824 Myelodysplastic syndrome NCBI curation 614286 Feb 16 2016 200424 TET3 CN263349 BECK-FAHRNER SYNDROME OMIM 618798 618798 Mar 6 2020 56159 TEX11 C1839841 Spermatogenic failure, X-linked, 2 NCBI curation 309120 Feb 16 2016 56155 TEX14 C4540185 SPERMATOGENIC FAILURE 23 OMIM 617707 617707 Oct 1 2017 56154 TEX15 C4693765 SPERMATOGENIC FAILURE 25 OMIM 617960 617960 May 6 2018 7018 TF C0521802 Atransferrinemia Human Phenotype Ontology HP:0012239 209300 Feb 16 2016 7019 TFAM C4310690 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) NCBI curation 617156 Jun 20 2017 7020 TFAP2A CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 7020 TFAP2A C0376524 Branchiooculofacial syndrome 113620 Feb 16 2016 7021 TFAP2B C1868570 Char syndrome NCBI curation 169100 Jul 17 2016 7021 TFAP2B C4284595 Patent ductus arteriosus 2 NCBI curation 617035 Aug 24 2016 7030 TFE3 C3275446 Renal cell carcinoma, Xp11-associated NCBI curation 300854 Feb 16 2016 10342 TFG C3714897 Spastic paraplegia 57, autosomal recessive NCBI curation 615658 Feb 16 2016 10342 TFG C1858338 Hereditary motor and sensory neuropathy, Okinawa type MONDO MONDO:0011468 604484 Apr 22 2020 7036 TFR2 C1858664 Hemochromatosis type 3 604250 Feb 16 2016 7037 TFRC C4225219 Immunodeficiency 46 NCBI curation 616740 Feb 16 2016 7038 TG C1842444 Autoimmune thyroid disease 3 NCBI curation 608175 Feb 16 2016 7038 TG C0342194 Iodotyrosyl coupling defect 274700 Feb 16 2016 23483 TGDS C1844887 Catel Manzke syndrome NCBI curation 616145 Feb 16 2016 7040 TGFB1 C0010674 Cystic fibrosis NCBI curation 219700 Jul 6 2018 7040 TGFB1 C4748708 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY OMIM 618213 618213 Dec 8 2018 7040 TGFB1 C0011989 Diaphyseal dysplasia Human Phenotype Ontology HP:0100252 131300 Feb 16 2016 7042 TGFB2 C3553762 Loeys-Dietz syndrome 4 NCBI curation 614816 Feb 16 2016 7043 TGFB3 C3810012 Loeys-Dietz syndrome 5 NCBI curation 615582 Aug 24 2016 7043 TGFB3 C1862511 Arrhythmogenic right ventricular dysplasia, familial 1 NCBI curation 107970 Aug 7 2016 7045 TGFBI C1275685 Avellino corneal dystrophy 607541 Feb 16 2016 7045 TGFBI C1837974 Corneal dystrophy, lattice type 3A MONDO MONDO:0012044 608471 Apr 22 2020 7045 TGFBI C0521723 Corneal epithelial dystrophy 121820 Feb 16 2016 7045 TGFBI C1641846 Groenouw corneal dystrophy type I 121900 Feb 16 2016 7045 TGFBI C1690006 Lattice corneal dystrophy Type I 122200 Feb 16 2016 7045 TGFBI C0339278 Reis-Bucklers' corneal dystrophy 608470 Feb 16 2016 7045 TGFBI C1562894 Thiel-Behnke corneal dystrophy 602082 Feb 16 2016 7046 TGFBR1 C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 Apr 27 2020 7046 TGFBR1 C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 Apr 27 2020 7046 TGFBR1 C4551955 Loeys-Dietz syndrome 1 NCBI curation 609192 Feb 16 2016 7046 TGFBR1 C4083047 Familial keratoacanthoma MONDO MONDO:0018851 132800 Apr 17 2020 7048 TGFBR2 C2674574 Loeys-Dietz syndrome 2 NCBI curation 610168 Feb 16 2016 7048 TGFBR2 C1860896 Hereditary nonpolyposis colorectal cancer type 6 NCBI curation 614331 Feb 16 2016 7048 TGFBR2 C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 Apr 27 2020 7048 TGFBR2 C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 Apr 27 2020 7048 TGFBR2 C0546837 Malignant tumor of esophagus NCBI curation 133239 Feb 16 2016 7050 TGIF1 C1840528 Holoprosencephaly 4 NCBI curation 142946 Feb 16 2016 7051 TGM1 C4551630 Autosomal recessive congenital ichthyosis 1 NCBI curation 242300 Feb 16 2016 7053 TGM3 C4310649 Uncombable hair syndrome 2 NCBI curation 617251 Jun 20 2017 9333 TGM5 C1853354 Peeling skin syndrome 2 NCBI curation 609796 Jan 10 2020 343641 TGM6 C3888031 Spinocerebellar ataxia 35 NCBI curation 613908 Feb 16 2016 7054 TH C1854299 Segawa syndrome, autosomal recessive 605407 Feb 16 2016 55145 THAP1 C1414216 Torsion dystonia 6 MONDO MONDO:0011264 602629 Apr 22 2020 57215 THAP11 CN043592 Disorders of Intracellular Cobalamin Metabolism Feb 16 2016 7056 THBD C2752036 Atypical hemolytic-uremic syndrome 6 NCBI curation 612926 Feb 16 2016 7056 THBD C3280976 Thrombophilia due to thrombomodulin defect NCBI curation 614486 Feb 16 2016 7058 THBS2 C0158252 Intervertebral disc disorder 603932 Feb 16 2016 54974 THG1L CN263364 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 OMIM 618800 618800 Mar 14 2020 57187 THOC2 C0796218 Mental retardation, X-linked 12 NCBI curation 300957 Feb 16 2016 79228 THOC6 C3150939 Beaulieu-Boycott-Innes syndrome NCBI curation 613680 Feb 16 2016 7066 THPO C3277671 Thrombocythemia 1 NCBI curation 187950 Dec 22 2019 7067 THRA C3280817 Hypothyroidism, congenital, nongoitrous, 6 NCBI curation 614450 Feb 16 2016 7068 THRB C1840364 Thyroid hormone resistance, selective pituitary NCBI curation 145650 Feb 16 2016 7068 THRB C2937288 Thyroid hormone resistance, generalized, autosomal dominant NCBI curation 188570 Feb 16 2016 7068 THRB C3489796 Thyroid hormone resistance, generalized, autosomal recessive NCBI curation 274300 Feb 16 2016 55901 THSD1 C5231484 ANEURYSM, INTRACRANIAL BERRY, 12 OMIM 618734 618734 Jan 12 2020 7072 TIA1 C0221054 Welander distal myopathy NCBI curation 604454 Jan 3 2018 148022 TICAM1 C3553869 Herpes simplex encephalitis, susceptibility to, 4 NCBI curation 614850 Feb 16 2016 29928 TIMM22 CN280853 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 OMIM 618851 618851 Apr 26 2020 92609 TIMM50 C4540171 3-methylglutaconic aciduria type 9 MONDO MONDO:0044724 617698 Apr 22 2020 1678 TIMM8A C0796074 Deafness dystonia syndrome MONDO MONDO:0010578 304700 Apr 17 2020 51300 TIMMDC1 C4748838 Mitochondrial complex 1 deficiency, nuclear type 31 MONDO MONDO:0032634 618251 May 27 2020 7078 TIMP3 C1850938 Sorsby fundus dystrophy NCBI curation 136900 136900 Feb 16 2016 26277 TINF2 C3151445 Dyskeratosis congenita, autosomal dominant, 3 NCBI curation 613990 Feb 16 2016 26277 TINF2 C1327916 Revesz syndrome 268130 Feb 16 2016 26277 TINF2 C4551974 Dyskeratosis congenita, autosomal dominant 1 MONDO MONDO:0007485 127550 Apr 22 2020 114609 TIRAP C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 114609 TIRAP C3280645 Bacteremia, susceptibility to, 1 NCBI curation 614382 Feb 16 2016 114609 TIRAP C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 9414 TJP2 C2931067 Progressive familial intrahepatic cholestasis 4 NCBI curation 615878 Feb 16 2016 9414 TJP2 C1843139 Hypercholanemia, familial NCBI curation 607748 Feb 16 2016 7084 TK2 C3149750 Mitochondrial DNA depletion syndrome 2 NCBI curation 609560 Feb 16 2016 7084 TK2 C4310734 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 NCBI curation 617069 Aug 24 2016 26007 TKFC CN263353 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME OMIM 618805 618805 Mar 8 2020 7086 TKT C1291328 Short stature, developmental delay, and congenital heart defects NCBI curation 617044 Aug 24 2016 79816 TLE6 C4225197 Preimplantation embryonic lethality 1 NCBI curation 616814 Jun 20 2017 11011 TLK2 C4748003 MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 OMIM 618050 618050 Jul 14 2018 7092 TLL1 C2751315 Atrial septal defect 6 NCBI curation 613087 Feb 16 2016 7096 TLR1 C2750733 Leprosy 5 NCBI curation 613223 Feb 16 2016 7097 TLR2 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 7097 TLR2 C1834752 Mycobacterium tuberculosis, susceptibility to NCBI curation 607948 Feb 16 2016 7097 TLR2 C1968668 Leprosy 3 NCBI curation 246300 Feb 16 2016 7098 TLR3 C2751803 Herpes simplex encephalitis 2 NCBI curation 613002 Feb 16 2016 7098 TLR3 C1836230 Human immunodeficiency virus type 1, susceptibility to NCBI curation 609423 Feb 16 2016 7100 TLR5 C1866373 Systemic lupus erythematosus 1 NCBI curation 601744 Feb 16 2016 7100 TLR5 C3809925 Melioidosis, susceptibility to NCBI curation 615557 Feb 16 2016 7100 TLR5 C1837872 Legionellosis 608556 Feb 16 2016 79853 TM4SF20 C3809483 Specific language impairment 5 NCBI curation 615432 Feb 16 2016 117531 TMC1 C1847626 Deafness, autosomal dominant 36 NCBI curation 606705 Feb 16 2016 117531 TMC1 C1832978 Deafness, autosomal recessive 7 NCBI curation 600974 Feb 16 2016 11322 TMC6 C4722564 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 OMIM 226400 226400 Jan 27 2020 147138 TMC8 C4722258 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 OMIM 618231 618231 Feb 3 2019 54499 TMCO1 C1859252 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NCBI curation 213980 Feb 16 2016 54664 TMEM106B C4693779 LEUKODYSTROPHY, HYPOMYELINATING, 16 OMIM 617964 617964 May 10 2018 84314 TMEM107 C4539714 Meckel syndrome 13 NCBI curation 617562 Aug 29 2017 84314 TMEM107 C4539729 Orofaciodigital syndrome 16 MONDO MONDO:0033045 617563 Apr 17 2020 84233 TMEM126A C2751812 Optic atrophy 7 NCBI curation 612989 Feb 16 2016 55863 TMEM126B C4748830 Mitochondrial complex 1 deficiency, nuclear type 29 MONDO MONDO:0032633 618250 May 27 2020 55654 TMEM127 C0031511 Pheochromocytoma Human Phenotype Ontology HP:0002666 171300 Feb 16 2016 124842 TMEM132E C4760579 DEAFNESS, AUTOSOMAL RECESSIVE 99 OMIM 618481 618481 Jun 26 2019 51524 TMEM138 C3280906 Joubert syndrome 16 NCBI curation 614465 Feb 16 2016 51524 TMEM138 C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 55858 TMEM165 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 Feb 16 2016 55858 TMEM165 C3553571 Congenital disorder of glycosylation type 2k NCBI curation 614727 Feb 16 2016 147007 TMEM199 C4225190 TMEM199-CDG MONDO MONDO:0014790 616829 Apr 17 2020 51259 TMEM216 C1842577 Joubert syndrome 2 608091 Feb 16 2016 51259 TMEM216 C1864148 Meckel syndrome, type 2 MONDO MONDO:0011296 603194 Apr 22 2020 79583 TMEM231 C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 79583 TMEM231 C3554235 Joubert syndrome 20 NCBI curation 614970 Feb 16 2016 79583 TMEM231 C3809352 Meckel syndrome, type 11 NCBI curation 615397 Feb 16 2016 65062 TMEM237 C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 65062 TMEM237 C3280766 Joubert syndrome 14 NCBI curation 614424 Feb 16 2016 339453 TMEM240 C1843891 Spinocerebellar ataxia type 21 MONDO MONDO:0011833 607454 Apr 22 2020 54916 TMEM260 C4479549 Structural heart defects and renal anomalies syndrome NCBI curation 617478 Jun 20 2017 55151 TMEM38B C3554428 Osteogenesis imperfecta, type xiv NCBI curation 615066 Aug 24 2016 79188 TMEM43 C3553060 Emery-Dreifuss muscular dystrophy 7, autosomal dominant NCBI curation 614302 Feb 16 2016 79188 TMEM43 C1858379 Arrhythmogenic right ventricular cardiomyopathy, type 5 NCBI curation 604400 Feb 16 2016 9725 TMEM63A C5231463 LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE OMIM 618688 618688 Dec 11 2019 91147 TMEM67 C1857662 Joubert syndrome with hepatic defect MONDO MONDO:0008996 216360 Apr 17 2020 91147 TMEM67 C1846357 Meckel syndrome, type 3 MONDO MONDO:0011821 607361 Apr 22 2020 91147 TMEM67 C3150796 Nephronophthisis 11 NCBI curation 613550 Feb 16 2016 91147 TMEM67 C2673874 Bardet-Biedl syndrome 14 NCBI curation 615991 Feb 16 2016 91147 TMEM67 C1853153 Joubert syndrome 6 NCBI curation 610688 Feb 16 2016 91147 TMEM67 C1865794 RHYNS syndrome 602152 Feb 16 2016 54968 TMEM70 C3279699 Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 NCBI curation 614052 Feb 16 2016 9772 TMEM94 C5193024 Intellectual developmental disorder with cardiac defects and dysmorphic facies NCBI curation 618316 Mar 8 2019 26022 TMEM98 C4014848 Nanophthalmos 4 NCBI curation 615972 Feb 16 2016 259236 TMIE C1832992 Deafness, autosomal recessive 6 NCBI curation 600971 Feb 16 2016 55217 TMLHE C3550875 Autism, susceptibility to, X-linked 6 NCBI curation 300872 Aug 24 2016 7112 TMPO C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 5651 TMPRSS15 C0268416 Enterokinase deficiency NCBI curation 226200 Feb 16 2016 64699 TMPRSS3 C1832827 Deafness, autosomal recessive 8 NCBI curation 601072 Feb 16 2016 164656 TMPRSS6 C0085576 Microcytic anemia Human Phenotype Ontology HP:0001935 206200 Feb 16 2016 160418 TMTC3 C4310646 Lissencephaly 8 NCBI curation 617255 Jun 20 2017 51075 TMX2 C5231480 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY OMIM 618730 618730 Jan 16 2020 3371 TNC C3810170 Deafness, autosomal dominant 56 NCBI curation 615629 Feb 16 2016 7124 TNF C1869116 Asthma, susceptibility to NCBI curation 600807 Feb 16 2016 7124 TNF C1970028 Susceptibility to malaria NCBI curation 611162 Feb 16 2016 7124 TNF C3887485 Migraine Human Phenotype Ontology HP:0002076 157300 Feb 16 2016 7128 TNFAIP3 C4225218 Autoinflammatory syndrome, familial, Behcet-like NCBI curation 616744 Feb 16 2016 8795 TNFRSF10B C1168401 Squamous cell carcinoma of the head and neck NCBI curation 275355 Feb 16 2016 8792 TNFRSF11A C4085251 Paget disease of bone 2, early-onset NCBI curation 602080 May 17 2016 8792 TNFRSF11A C2676766 Autosomal recessive osteopetrosis 7 MONDO MONDO:0012859 612301 Apr 22 2020 8792 TNFRSF11A C0432292 Familial expansile osteolysis 174810 Feb 16 2016 4982 TNFRSF11B C0268414 Hyperphosphatasemia with bone disease 239000 Feb 16 2016 23495 TNFRSF13B C1836032 Immunoglobulin A deficiency 2 609529 Feb 16 2016 23495 TNFRSF13B C3150354 Common variable immunodeficiency 2 NCBI curation 240500 Feb 16 2016 115650 TNFRSF13C C3150354 Common variable immunodeficiency 2 NCBI curation 240500 Feb 16 2016 115650 TNFRSF13C C3150739 Common variable immunodeficiency 4 NCBI curation 613494 Feb 16 2016 7132 TNFRSF1A C3553728 Multiple sclerosis, susceptibility to, 5 NCBI curation 614810 Feb 16 2016 7132 TNFRSF1A C1275126 TNF receptor-associated periodic fever syndrome (TRAPS) 142680 Feb 16 2016 7293 TNFRSF4 C3810053 Immunodeficiency 16 NCBI curation 615593 Feb 16 2016 8600 TNFSF11 C1850126 Autosomal recessive osteopetrosis 2 MONDO MONDO:0009816 259710 Apr 22 2020 7292 TNFSF4 C1832662 Myocardial infarction 1 NCBI curation 608446 Feb 16 2016 23043 TNIK C4310755 Mental retardation, autosomal recessive 54 NCBI curation 617028 Aug 24 2016 7134 TNNC1 C2678475 Dilated cardiomyopathy 1Z NCBI curation C2678475 611879 Feb 16 2016 7134 TNNC1 C2750472 Familial hypertrophic cardiomyopathy 13 NCBI curation 613243 Feb 16 2016 7136 TNNI2 C5193014 Distal arthrogryposis type 2B NCBI curation 601680 Feb 16 2016 7137 TNNI3 C1861861 Familial restrictive cardiomyopathy 1 NCBI curation 115210 Feb 16 2016 7137 TNNI3 C1860752 Familial hypertrophic cardiomyopathy 7 NCBI curation 613690 Feb 16 2016 7137 TNNI3 C2750091 Dilated cardiomyopathy 1FF NCBI curation CN035661 613286 Feb 16 2016 7137 TNNI3 C2678474 Dilated cardiomyopathy 2A NCBI curation C2678474 611880 Feb 16 2016 51086 TNNI3K C4015285 Cardiac conduction disease with or without dilated cardiomyopathy NCBI curation 616117 Feb 16 2016 7138 TNNT1 C1854380 Nemaline myopathy 5 NCBI curation 605355 Feb 16 2016 7139 TNNT2 C1861864 Familial hypertrophic cardiomyopathy 2 NCBI curation 115195 Feb 16 2016 7139 TNNT2 C2676271 Familial restrictive cardiomyopathy 3 NCBI curation 612422 Feb 16 2016 7139 TNNT2 C1832243 Left ventricular noncompaction 6 NCBI curation 601494 Feb 16 2016 7139 TNNT2 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 7140 TNNT3 C5193097 ARTHROGRYPOSIS, DISTAL, TYPE 2B2 OMIM 618435 618435 May 18 2019 23534 TNPO3 C1842062 Limb-girdle muscular dystrophy, type 1F NCBI curation 608423 Feb 16 2016 27327 TNRC6A C4748079 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 OMIM 618074 618074 Aug 3 2018 7148 TNXB C1848029 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO MONDO:0011670 606408 Apr 17 2020 7148 TNXB C4014831 Vesicoureteral reflux 8 NCBI curation 615963 Feb 16 2016 114034 TOE1 C3554226 Pontocerebellar hypoplasia, type 7 NCBI curation 614969 Feb 16 2016 4796 TONSL C1300260 Sponastrime dysplasia 271510 Feb 16 2016 7156 TOP3A C4748184 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 OMIM 618098 618098 Sep 8 2018 7156 TOP3A C4748176 MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 OMIM 618097 618097 Sep 1 2018 10210 TOPORS C1835923 Retinitis pigmentosa 31 NCBI curation 609923 Feb 16 2016 1861 TOR1A C1851945 Dystonia 1 NCBI curation 128100 Feb 16 2016 26092 TOR1AIP1 C4310731 Muscular dystrophy, limb-girdle, type 2y NCBI curation 617072 Aug 24 2016 7157 TP53 C4748488 BONE MARROW FAILURE SYNDROME 5 OMIM 618165 618165 Nov 2 2018 7157 TP53 C1859972 Adrenocortical carcinoma, hereditary NCBI curation 202300 Feb 16 2016 7157 TP53 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 7157 TP53 C1835398 Li-Fraumeni syndrome 1 NCBI curation 151623 Feb 16 2016 7157 TP53 C0029463 Osteosarcoma Human Phenotype Ontology HP:0002669 259500 Feb 16 2016 7157 TP53 C0205770 Choroid plexus papilloma Human Phenotype Ontology HP:0200022 260500 Feb 16 2016 7157 TP53 C2750850 Glioma susceptibility 1 NCBI curation 137800 Feb 16 2016 7157 TP53 C1527249 Colorectal cancer NCBI curation 114500 Feb 16 2016 7157 TP53 C0235974 Carcinoma of pancreas NCBI curation 260350 Feb 16 2016 7157 TP53 C2239176 Hepatocellular carcinoma Human Phenotype Ontology HP:0001402 114550 Feb 16 2016 7157 TP53 C2931822 Nasopharyngeal carcinoma NCBI curation 607107 Feb 16 2016 7157 TP53 C3553606 Basal cell carcinoma, susceptibility to, 7 NCBI curation 614740 Feb 16 2016 112858 TP53RK C4540270 GALLOWAY-MOWAT SYNDROME 4 OMIM 617730 617730 Oct 29 2017 8626 TP63 C1854442 Split-hand/foot malformation 4 NCBI curation 605289 Feb 16 2016 8626 TP63 C1785148 Rapp-Hodgkin ectodermal dysplasia syndrome NCBI curation 129400 Feb 16 2016 8626 TP63 C1863204 ADULT syndrome NCBI curation 103285 May 3 2020 8626 TP63 C0406709 Hay-Wells syndrome of ectodermal dysplasia 106260 Feb 16 2016 8626 TP63 C1858562 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 NCBI curation 604292 Feb 16 2016 8626 TP63 C1851878 Orofacial cleft 8 NCBI curation 618149 Feb 16 2016 8626 TP63 C1863753 Limb-mammary syndrome NCBI curation 603543 May 3 2020 219931 TPCN2 C2677088 Skin/hair/eye pigmentation, variation in, 10 NCBI curation 612267 Feb 16 2016 121278 TPH2 CN120491 Tryptophan 5-monooxygenase deficiency NCBI curation Feb 16 2016 121278 TPH2 C2751802 Attention deficit-hyperactivity disorder 7 NCBI curation 613003 Feb 16 2016 121278 TPH2 C1269683 Major depressive disorder NCBI curation 608516 Jul 6 2018 7167 TPI1 C1860808 Triosephosphate isomerase deficiency NCBI curation 615512 Feb 16 2016 27010 TPK1 C3280866 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) NCBI curation 614458 Aug 24 2016 7168 TPM1 C1861863 Familial hypertrophic cardiomyopathy 3 NCBI curation 115196 Feb 16 2016 7168 TPM1 C2678476 Dilated cardiomyopathy 1Y NCBI curation C2678476 611878 Feb 16 2016 7168 TPM1 C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 7169 TPM2 C0546264 Congenital myopathy with fiber type disproportion 255310 Feb 16 2016 7169 TPM2 C1836447 Nemaline myopathy 4 609285 Feb 16 2016 7169 TPM2 C0220662 Distal arthrogryposis type 1A NCBI curation 108120 Sep 16 2018 7170 TPM3 C1836448 Nemaline myopathy 1 609284 Feb 16 2016 7170 TPM3 C0546264 Congenital myopathy with fiber type disproportion 255310 Feb 16 2016 7172 TPMT CN077959 Azathioprine response NCBI curation Feb 16 2016 7172 TPMT C0342801 Thiopurine methyltransferase deficiency NCBI curation 610460 Feb 16 2016 7172 TPMT CN078017 Thioguanine response NCBI curation Feb 16 2016 7172 TPMT CN077995 Mercaptopurine response NCBI curation Feb 16 2016 7173 TPO C1291299 Deficiency of iodide peroxidase 274500 Feb 16 2016 1200 TPP1 C1876161 Ceroid lipofuscinosis neuronal 2 NCBI curation 204500 May 20 2016 1200 TPP1 C1836474 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Orphanet ORPHA284324 609270 May 16 2016 51002 TPRKB C4540274 GALLOWAY-MOWAT SYNDROME 5 OMIM 617731 617731 Oct 29 2017 286262 TPRN C2750082 Deafness, autosomal recessive 79 NCBI curation 613307 Feb 16 2016 28755 TRAC C3809332 T-cell receptor alpha/beta deficiency NCBI curation 615387 Feb 16 2016 7187 TRAF3 C3553868 Herpes simplex encephalitis, susceptibility to, 3 NCBI curation 614849 Feb 16 2016 26146 TRAF3IP1 C4225263 Senior-Loken syndrome 9 NCBI curation 616629 Oct 23 2016 10758 TRAF3IP2 C3279754 Psoriasis susceptibility 13 NCBI curation 614070 Feb 16 2016 10758 TRAF3IP2 C3714992 Candidiasis, familial, 8 NCBI curation 615527 Feb 16 2016 84231 TRAF7 C4748484 CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY OMIM 618164 618164 Nov 2 2018 10293 TRAIP C4225212 Seckel syndrome 9 NCBI curation 616777 Feb 16 2016 22906 TRAK1 C4748688 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 OMIM 618201 618201 Nov 30 2018 60684 TRAPPC11 C3809236 Limb-girdle muscular dystrophy, type 2S NCBI curation 615356 Feb 16 2016 51112 TRAPPC12 C4540059 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO MONDO:0044696 617669 Apr 17 2020 6399 TRAPPC2 C3541456 Spondyloepiphyseal dysplasia tarda NCBI curation 313400 Feb 16 2016 51693 TRAPPC2L C5193033 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS OMIM 618331 618331 Feb 24 2019 51399 TRAPPC4 CN263281 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY OMIM 618741 618741 Feb 20 2020 122553 TRAPPC6B C4693390 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY OMIM 617862 617862 Feb 4 2018 83696 TRAPPC9 C2750791 Mental retardation, autosomal recessive 13 NCBI curation 613192 Feb 16 2016 10345 TRDN C4053736 Catecholaminergic polymorphic ventricular tachycardia type 1 NCBI curation 604772 Oct 13 2017 10345 TRDN C3809536 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness NCBI curation 615441 Feb 16 2016 11181 TREH C0268187 alpha, alpha-Trehalase deficiency 612119 Feb 16 2016 54209 TREM2 C4748657 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 OMIM 618193 618193 Nov 18 2018 11277 TREX1 C1860518 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO MONDO:0008641 192315 Apr 22 2020 11277 TREX1 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 Feb 16 2016 11277 TREX1 C3277619 Chilblain lupus 1 NCBI curation 610448 Aug 24 2016 11277 TREX1 C0796126 Aicardi Goutieres syndrome 1 NCBI curation 225750 Feb 16 2016 7200 TRH C3887992 Hypothalamic hypothyroidism Human Phenotype Ontology HP:0008237 275120 Feb 16 2016 7201 TRHR CN262229 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 OMIM 618573 618573 Sep 7 2019 23321 TRIM2 C3809655 Charcot-Marie-Tooth disease, axonal, type 2R NCBI curation 615490 Feb 16 2016 22954 TRIM32 C1859569 Bardet-Biedl syndrome 11 615988 Feb 16 2016 22954 TRIM32 C0270968 Sarcotubular myopathy NCBI curation 254110 Feb 16 2016 55521 TRIM36 C0002902 Anencephalus 206500 Feb 16 2016 4591 TRIM37 C0524582 Mulibrey nanism syndrome 253250 Feb 16 2016 54765 TRIM44 C4310695 Aniridia 3 NCBI curation 617142 Jun 20 2017 131405 TRIM71 C5231454 HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 OMIM 618667 618667 Nov 24 2019 7204 TRIO CN263464 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY OMIM 618825 618825 Apr 2 2020 7204 TRIO C4310740 Mental retardation, autosomal dominant 44 NCBI curation 617061 Jun 20 2017 11078 TRIOBP C1853276 Deafness, autosomal recessive 28 NCBI curation 609823 Feb 16 2016 9321 TRIP11 C2745953 Goldblatt hypertension 184260 Feb 16 2016 9321 TRIP11 C0265273 Achondrogenesis, type IA 200600 Feb 16 2016 9320 TRIP12 C4540324 Clark-Baraitser syndrome 617752 Apr 17 2020 9319 TRIP13 C4539839 Mosaic variegated aneuploidy syndrome 3 NCBI curation 617598 Aug 16 2017 9325 TRIP4 C4225177 Spinal muscular atrophy with congenital bone fractures 1 NCBI curation 616866 Aug 24 2016 9325 TRIP4 C4310736 Muscular dystrophy, congenital, davignon-chauveau type NCBI curation 617066 Aug 24 2016 54802 TRIT1 C4693466 Combined oxidative phosphorylation deficiency 35 NCBI curation 617873 Feb 25 2019 55621 TRMT1 C4749033 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 OMIM 618302 618302 Feb 1 2019 93587 TRMT10A C4014997 Microcephaly, short stature, and impaired glucose metabolism 1 NCBI curation 616033 Aug 24 2016 54931 TRMT10C C4310773 Combined oxidative phosphorylation deficiency 30 NCBI curation 616974 Feb 10 2018 57570 TRMT5 C4225290 Combined oxidative phosphorylation deficiency 26 NCBI curation 616539 Feb 16 2016 55687 TRMU C3278664 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO MONDO:0013111 613070 Apr 17 2020 55687 TRMU C1154708 Streptomycin response NCBI curation Feb 16 2016 55687 TRMU C1838854 Aminoglycoside-induced deafness NCBI curation 580000 Feb 16 2016 55687 TRMU C1838854 Aminoglycoside-induced deafness NCBI curation 580000 Feb 16 2016 55687 TRMU CN184547 Kanamycin response NCBI curation Feb 16 2016 55687 TRMU CN184545 Tobramycin response NCBI curation Feb 16 2016 55687 TRMU CN184091 Aminoglycoside response NCBI curation Feb 16 2016 55687 TRMU CN184225 Gentamicin response NCBI curation Feb 16 2016 51095 TRNT1 C4015172 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay NCBI curation 616084 Feb 16 2016 51095 TRNT1 C4310776 Retinitis pigmentosa and erythrocytic microcytosis NCBI curation 616959 Jul 5 2016 8989 TRPA1 C3808667 Familial episodic pain syndrome 1 NCBI curation 615040 Feb 16 2016 7222 TRPC3 C4225158 Spinocerebellar ataxia 41 NCBI curation 616410 Feb 16 2016 7225 TRPC6 C1858915 Focal segmental glomerulosclerosis 2 NCBI curation 603965 Feb 16 2016 4308 TRPM1 C2750747 Congenital stationary night blindness, type 1C NCBI curation 613216 Feb 16 2016 54795 TRPM4 C5193144 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 OMIM 618531 618531 Aug 11 2019 54795 TRPM4 C1970298 Progressive familial heart block type IB MONDO MONDO:0011474 604559 Apr 22 2020 140803 TRPM6 C1865974 Hypomagnesemia 1, intestinal NCBI curation 602014 Feb 16 2016 54822 TRPM7 C0543859 Amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO MONDO:0007104 105500 Apr 17 2020 7227 TRPS1 C0432233 Trichorhinophalangeal dysplasia type I 190350 Feb 16 2016 7227 TRPS1 C1860823 Trichorhinophalangeal syndrome, type III MONDO MONDO:0008597 190351 Apr 22 2020 162514 TRPV3 C2609071 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques NCBI curation 614594 Feb 16 2016 162514 TRPV3 C4225339 Palmoplantar keratoderma, nonepidermolytic, focal 2 NCBI curation 616400 Feb 16 2016 59341 TRPV4 C0432227 Brachyrachia (short spine dysplasia) 113500 Feb 16 2016 59341 TRPV4 C4479260 Avascular necrosis of femoral head, primary, 2 NCBI curation 617383 Jun 20 2017 59341 TRPV4 C0265280 Spondylometaphyseal dysplasia, Kozlowski type NCBI curation 184252 Feb 16 2016 59341 TRPV4 C3150755 Sodium serum level quantitative trait locus 1 NCBI curation 613508 Feb 16 2016 59341 TRPV4 C1868616 Parastremmatic dwarfism 168400 Feb 16 2016 59341 TRPV4 C3159322 Spondyloepiphyseal dysplasia Maroteaux type NCBI curation 184095 Feb 16 2016 59341 TRPV4 C1847406 Digital arthropathy-brachydactyly, familial NCBI curation 606835 Feb 16 2016 59341 TRPV4 C1838492 Distal spinal muscular atrophy, congenital nonprogressive NCBI curation 600175 Feb 16 2016 59341 TRPV4 C0265281 Metatrophic dysplasia 156530 Feb 16 2016 59341 TRPV4 C0751335 Scapuloperoneal spinal muscular atrophy NCBI curation 181405 Feb 16 2016 59341 TRPV4 C1853710 Charcot-Marie-Tooth disease axonal type 2C MONDO MONDO:0011633 606071 Apr 22 2020 55503 TRPV6 C1300287 HYPERPARATHYROIDISM, TRANSIENT NEONATAL OMIM 618188 618188 Nov 16 2018 8295 TRRAP CN263282 DEAFNESS, AUTOSOMAL DOMINANT 75 OMIM 618778 618778 Feb 20 2020 8295 TRRAP C5193106 DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM OMIM 618454 618454 Jun 15 2019 7248 TSC1 C1854465 Tuberous sclerosis 1 NCBI curation 191100 Feb 16 2016 7248 TSC1 C0751674 Lymphangiomyomatosis NCBI curation 606690 Feb 16 2016 7248 TSC1 C1846385 Focal cortical dysplasia type II NCBI curation 607341 Nov 19 2017 7249 TSC2 C1846385 Focal cortical dysplasia type II NCBI curation 607341 Nov 19 2017 7249 TSC2 C0751674 Lymphangiomyomatosis NCBI curation 606690 Feb 16 2016 7249 TSC2 C1860707 Tuberous sclerosis 2 NCBI curation 613254 Feb 16 2016 116461 TSEN15 C4310757 Pontocerebellar hypoplasia, type 2f NCBI curation 617026 Aug 24 2016 80746 TSEN2 C2676466 Pontocerebellar hypoplasia type 2B NCBI curation 612389 Feb 16 2016 79042 TSEN34 C2676465 Pontocerebellar hypoplasia type 2C NCBI curation 612390 Feb 16 2016 283989 TSEN54 C1848526 Pontocerebellar hypoplasia type 2A NCBI curation 277470 Feb 16 2016 283989 TSEN54 C1856974 Pontocerebellar hypoplasia type 4 225753 Feb 16 2016 283989 TSEN54 C1857762 Pontocerebellar hypoplasia type 5 610204 Feb 16 2016 10102 TSFM C1864840 Combined oxidative phosphorylation deficiency 3 NCBI curation 610505 Feb 16 2016 80705 TSGA10 C4693773 SPERMATOGENIC FAILURE 26 OMIM 617961 617961 May 6 2018 7252 TSHB C0271789 Secondary hypothyroidism 275100 Feb 16 2016 7253 TSHR C1836706 Hyperthyroidism, nonautoimmune NCBI curation 609152 Feb 16 2016 7253 TSHR C3493776 Hypothyroidism, congenital, nongoitrous, 1 NCBI curation 275200 Feb 16 2016 7253 TSHR C1863959 Hyperthyroidism, familial gestational NCBI curation 603373 Feb 16 2016 10194 TSHZ1 C1842937 Aural atresia, congenital NCBI curation 607842 Feb 16 2016 23554 TSPAN12 C2750079 Exudative vitreoretinopathy 5 NCBI curation 613310 Feb 16 2016 7102 TSPAN7 C1846174 Mental retardation 58, X-linked NCBI curation 300210 Feb 16 2016 54084 TSPEAR C3553932 Deafness, autosomal recessive 98 NCBI curation 614861 Feb 16 2016 54084 TSPEAR C4748560 ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS OMIM 618180 618180 Nov 8 2018 7259 TSPYL1 C1837371 Sudden infant death with dysgenesis of the testes syndrome NCBI curation 608800 Feb 16 2016 90121 TSR2 C4225422 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis NCBI curation 300946 Feb 16 2016 146057 TTBK2 C1858351 Spinocerebellar ataxia type 11 MONDO MONDO:0011464 604432 Apr 22 2020 54970 TTC12 CN263351 CILIARY DYSKINESIA, PRIMARY, 45 OMIM 618801 618801 Mar 7 2020 54902 TTC19 C3554605 Mitochondrial complex III deficiency, nuclear type 2 NCBI curation 615157 Feb 16 2016 199223 TTC21A C5193091 SPERMATOGENIC FAILURE 37 OMIM 618429 618429 May 15 2019 79809 TTC21B C3151185 Asphyxiating thoracic dystrophy 4 NCBI curation 613819 Feb 16 2016 79809 TTC21B C0431399 Joubert syndrome OMIM phenotypic series PS213300 Mar 28 2017 79809 TTC21B C3151186 Nephronophthisis 12 NCBI curation 613820 Feb 16 2016 83538 TTC25 C4310721 Ciliary dyskinesia, primary, 35 NCBI curation 617092 Jun 20 2017 83894 TTC29 C5231488 SPERMATOGENIC FAILURE 42 OMIM 618745 618745 Jan 25 2020 9652 TTC37 C4551982 Trichohepatoenteric syndrome 1 NCBI curation 222470 Oct 23 2016 57217 TTC7A C0220744 Multiple gastrointestinal atresias 243150 Feb 16 2016 123016 TTC8 C1859566 Bardet-Biedl syndrome 8 615985 Feb 16 2016 123016 TTC8 C3150715 Retinitis pigmentosa 51 NCBI curation 613464 Feb 16 2016 80185 TTI2 C3809853 Mental retardation, autosomal recessive 39 NCBI curation 615541 Feb 16 2016 23093 TTLL5 C4014501 Cone-rod dystrophy 19 NCBI curation 615860 Feb 16 2016 7273 TTN C1858763 Dilated cardiomyopathy 1G NCBI curation C1858763 604145 Feb 16 2016 7273 TTN C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 7273 TTN C1863599 Myopathy, myofibrillar, 9, with early respiratory failure NCBI curation 603689 Jan 7 2020 7273 TTN C2673677 Myopathy, early-onset, with fatal cardiomyopathy NCBI curation 611705 Feb 16 2016 7273 TTN C1861065 Familial hypertrophic cardiomyopathy 9 NCBI curation 613765 Feb 16 2016 7273 TTN C1838244 Tibial muscular dystrophy MONDO MONDO:0010870 600334 Apr 17 2020 7273 TTN C1837342 Limb-girdle muscular dystrophy, type 2J NCBI curation 608807 Feb 16 2016 7274 TTPA C1848533 Familial isolated deficiency of vitamin E MONDO MONDO:0010188 277460 Apr 17 2020 7276 TTR C0007286 Carpal tunnel syndrome NCBI curation 115430 Feb 16 2016 7276 TTR C2751492 Amyloidogenic transthyretin amyloidosis NCBI curation 105210 Feb 16 2016 7276 TTR C2750824 Dystransthyretinemic euthyroidal hyperthyroxinemia NCBI curation 145680 Feb 16 2016 7275 TUB C4015424 Retinal dystrophy and obesity NCBI curation 616188 Feb 16 2016 7846 TUBA1A C1969029 Lissencephaly 3 NCBI curation 611603 Feb 16 2016 113457 TUBA3D C4693660 KERATOCONUS 9 OMIM 617928 617928 Apr 5 2018 7277 TUBA4A C4015512 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia NCBI curation 616208 Feb 16 2016 51807 TUBA8 C2750798 Polymicrogyria with optic nerve hypoplasia NCBI curation 613180 Feb 16 2016 203068 TUBB C4014283 Cortical dysplasia, complex, with other brain malformations 6 NCBI curation 615771 Feb 16 2016 203068 TUBB C4551592 Symmetric circumferential skin creases, congenital, 1 NCBI curation 156610 Jan 16 2020 81027 TUBB1 C2751259 Autosomal dominant macrothrombocytopenia TUBB1-related MONDO MONDO:0013141 613112 Apr 22 2020 7280 TUBB2A C3810407 Cortical dysplasia, complex, with other brain malformations 5 NCBI curation 615763 Feb 16 2016 347733 TUBB2B C3552236 Polymicrogyria, asymmetric NCBI curation 610031 Feb 16 2016 10381 TUBB3 CN120300 Congenital Fibrosis of the Extraocular Muscles 1B NCBI curation Feb 16 2016 10381 TUBB3 C3808397 Cortical dysplasia, complex, with other brain malformations 1 NCBI curation 614039 Feb 16 2016 10381 TUBB3 C2748801 Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement NCBI curation 600638 Feb 16 2016 10382 TUBB4A C2676244 Leukodystrophy, hypomyelinating, 6 NCBI curation 612438 Feb 16 2016 10382 TUBB4A C1851943 Autosomal dominant torsion dystonia 4 NCBI curation 128101 Feb 16 2016 10383 TUBB4B C4693498 LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS OMIM 617879 617879 Feb 18 2018 84617 TUBB6 C4540277 FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION OMIM 617732 617732 Oct 29 2017 347688 TUBB8 C4225210 Oocyte maturation defect 2 NCBI curation 616780 Feb 16 2016 7283 TUBG1 C3809420 Cortical dysplasia, complex, with other brain malformations 4 NCBI curation 615412 Feb 16 2016 10844 TUBGCP2 C5231486 PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES OMIM 618737 618737 Jan 19 2020 27229 TUBGCP4 C4225362 Microcephaly and chorioretinopathy, autosomal recessive, 3 NCBI curation 616335 Feb 16 2016 85378 TUBGCP6 C3278481 Microcephaly and chorioretinopathy, autosomal recessive, 1 NCBI curation 251270 Feb 2 2020 7284 TUFM C1857682 Combined oxidative phosphorylation deficiency 4 NCBI curation 610678 Feb 16 2016 7287 TULP1 C3151206 Leber congenital amaurosis 15 NCBI curation 613843 Feb 16 2016 7287 TULP1 C1838603 Retinitis pigmentosa 14 NCBI curation 600132 Feb 16 2016 7991 TUSC3 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 Feb 16 2016 7991 TUSC3 C1970197 Mental retardation, autosomal recessive 7 NCBI curation 611093 Feb 16 2016 7291 TWIST1 C4540299 SWEENEY-COX SYNDROME OMIM 617746 617746 Oct 29 2017 7291 TWIST1 C4551902 Craniosynostosis 1 NCBI curation 123100 Feb 16 2016 7291 TWIST1 C0175699 Saethre-Chotzen syndrome NCBI curation 101400 Feb 16 2016 7291 TWIST1 C1867146 Robinow-Sorauf syndrome MONDO MONDO:0008391 180750 Apr 22 2020 117581 TWIST2 C1744559 Focal facial dermal dysplasia 3, Setleis type NCBI curation 227260 Apr 26 2020 117581 TWIST2 C1860224 Ablepharon macrostomia syndrome 200110 Feb 16 2016 117581 TWIST2 C1319466 Barber-Say syndrome 209885 Feb 16 2016 56652 TWNK C1849096 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) NCBI curation 271245 Feb 16 2016 56652 TWNK C4015307 Perrault syndrome 5 NCBI curation 616138 Feb 16 2016 56652 TWNK C1836439 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 NCBI curation 609286 Feb 16 2016 56652 TWNK C1843851 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome MONDO MONDO:0011835 607459 Apr 17 2020 25828 TXN2 C4225200 Combined oxidative phosphorylation deficiency 29 NCBI curation 616811 Feb 16 2016 10907 TXNL4A C1837822 Burn-McKeown syndrome NCBI curation 608572 Aug 2 2016 10587 TXNRD2 C4540522 GLUCOCORTICOID DEFICIENCY 5 OMIM 617825 617825 Dec 24 2017 7297 TYK2 C1969086 Tyrosine kinase 2 deficiency NCBI curation 611521 Feb 16 2016 1890 TYMP C4551995 Mitochondrial DNA depletion syndrome 1 (MNGIE type) NCBI curation 603041 Aug 26 2016 7299 TYR C4551504 Tyrosinase-negative oculocutaneous albinism NCBI curation 203100 Feb 16 2016 7299 TYR C2677190 Skin/hair/eye pigmentation, variation in, 3 NCBI curation 601800 Feb 16 2016 7299 TYR C1847024 Oculocutaneous albinism type 1B 606952 Feb 16 2016 7299 TYR CN028925 Albinism, ocular, with sensorineural deafness NCBI curation 103470 Feb 16 2016 7305 TYROBP C4721893 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 NCBI curation 221770 Jan 26 2020 7306 TYRP1 C0342683 Oculocutaneous albinism type 3 NCBI curation 203290 Jun 10 2019 7306 TYRP1 C2677086 Skin/hair/eye pigmentation, variation in, 11 NCBI curation 612271 Feb 16 2016 7317 UBA1 C1844934 Spinal muscular atrophy, X-linked 2 NCBI curation 301830 Sep 16 2018 79876 UBA5 C4310700 Epileptic encephalopathy, early infantile, 44 NCBI curation 617132 Jun 20 2017 79876 UBA5 C4310699 Spinocerebellar ataxia, autosomal recessive 24 NCBI curation 617133 Jun 20 2017 51271 UBAP1 C5193084 SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT OMIM 618418 618418 May 12 2019 7319 UBE2A C3275464 Syndromic mental retardation, Nascimento type, X-linked NCBI curation 300860 Feb 16 2016 29089 UBE2T C4084840 Fanconi anemia, complementation group T NCBI curation 616435 Jun 20 2017 7337 UBE3A C0162635 Angelman syndrome 105830 Feb 16 2016 89910 UBE3B C1855663 Kaufman oculocerebrofacial syndrome NCBI curation 244450 Feb 28 2017 29914 UBIAD1 C0271287 Schnyder crystalline corneal dystrophy NCBI curation 121800 Feb 16 2016 29978 UBQLN2 C3275459 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia NCBI curation 300857 Feb 16 2016 29978 UBQLN2 C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 Feb 16 2016 29978 UBQLN2 C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 Feb 16 2016 197131 UBR1 C0175692 Johanson-Blizzard syndrome 243800 Feb 16 2016 7343 UBTF C4540086 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO MONDO:0044701 617672 Apr 17 2020 7345 UCHL1 C3150899 Parkinson disease 5 NCBI curation 613643 Feb 16 2016 7345 UCHL1 C3809665 Spastic paraplegia 79, autosomal recessive NCBI curation 615491 Jun 20 2017 7351 UCP2 C1843898 Body mass index quantitative trait locus 4 NCBI curation 607447 Feb 16 2016 7352 UCP3 C0028754 Obesity NCBI curation 601665 Feb 16 2016 51506 UFC1 C4748081 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH OMIM 618076 618076 Aug 8 2018 51569 UFM1 C4693535 LEUKODYSTROPHY, HYPOMYELINATING, 14 OMIM 617899 617899 Mar 7 2018 55325 UFSP2 C4693799 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE OMIM 617974 617974 May 13 2018 55325 UFSP2 C1840572 Beukes hip dysplasia NCBI curation 142669 Apr 2 2018 7358 UGDH CN263317 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 OMIM 618792 618792 Feb 28 2020 7360 UGP2 C5231487 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83 OMIM 618744 618744 Jan 26 2020 54658 UGT1A1 CN417141 Atazanavir response NCBI curation Aug 28 2017 54658 UGT1A1 CN077989 Irinotecan response NCBI curation Feb 16 2016 54658 UGT1A1 C0017551 Gilbert's syndrome 143500 Feb 16 2016 54658 UGT1A1 C2931132 Crigler-Najjar syndrome, type II 606785 Feb 16 2016 54658 UGT1A1 C1866173 Bilirubin, serum level of, quantitative trait locus 1 NCBI curation 601816 Feb 16 2016 54658 UGT1A1 CN029644 Crigler-Najjar syndrome type 1 MONDO MONDO:0021020 218800 Apr 22 2020 54658 UGT1A1 C0270210 Lucey-Driscoll syndrome 237900 Feb 16 2016 7367 UGT2B17 C2675513 Bone mineral density quantitative trait locus 12 NCBI curation 612560 Feb 16 2016 7369 UMOD C1859040 Autosomal dominant medullary cystic kidney disease with hyperuricemia MONDO MONDO:0019511 603860 Apr 17 2020 7369 UMOD C4551496 Familial juvenile gout 162000 Feb 16 2016 7369 UMOD C1835934 Glomerulocystic kidney disease with hyperuricemia and isosthenuria NCBI curation 609886 Feb 16 2016 7372 UMPS C0268128 Orotic aciduria Human Phenotype Ontology HP:0003218 258900 Apr 10 2018 9094 UNC119 C3809768 Immunodeficiency 13 NCBI curation 615518 Feb 16 2016 201294 UNC13D C1837174 Familial hemophagocytic lymphohistiocytosis 3 MONDO MONDO:0012146 608898 Apr 22 2020 146862 UNC45B C4225389 Cataract 43 NCBI curation 616279 Feb 16 2016 285175 UNC80 C4225203 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 NCBI curation 616801 Feb 16 2016 81622 UNC93B1 C2750180 Herpes simplex encephalitis 1 NCBI curation 610551 Feb 16 2016 7374 UNG C1720958 Hyper-IgM syndrome type 5 MONDO MONDO:0011971 608106 Apr 22 2020 51733 UPB1 C1291512 Deficiency of beta-ureidopropionase NCBI curation 613161 Feb 16 2016 65109 UPF3B C1970822 Mental retardation, syndromic 14, X-linked NCBI curation 300676 Feb 16 2016 84300 UQCC2 C4014408 Mitochondrial complex III deficiency, nuclear type 7 NCBI curation 615824 Oct 19 2018 790955 UQCC3 C4015253 Mitochondrial complex III deficiency, nuclear type 9 NCBI curation 616111 May 26 2016 7381 UQCRB C3554606 Mitochondrial complex III deficiency, nuclear type 3 NCBI curation 615158 Feb 16 2016 7385 UQCRC2 C3554608 Mitochondrial complex III deficiency, nuclear type 5 NCBI curation 615160 Feb 16 2016 7386 UQCRFS1 CN263279 Mitochondrial complex 3 deficiency, nuclear type 10 MONDO MONDO:0032909 618775 May 27 2020 27089 UQCRQ C3554607 Mitochondrial complex III deficiency, nuclear type 4 NCBI curation 615159 Feb 16 2016 131669 UROC1 C0268514 Urocanate hydratase deficiency 276880 Feb 16 2016 7389 UROD C0268323 Familial porphyria cutanea tarda 176100 Feb 16 2016 7390 UROS C0162530 Congenital erythropoietic porphyria NCBI curation 263700 Feb 16 2016 79650 USB1 C1858723 Poikiloderma with neutropenia 604173 Feb 16 2016 7391 USF1 C1865289 Hyperlipidemia, combined, 1 NCBI curation 602491 Feb 16 2016 10083 USH1C C1865870 Deafness, autosomal recessive 18 NCBI curation 602092 Feb 16 2016 10083 USH1C C1848604 Usher syndrome, type 1C NCBI curation 276904 Feb 16 2016 10083 USH1C C1568247 Usher syndrome type 1 MONDO MONDO:0010168 276900 Apr 22 2020 124590 USH1G C1847089 Usher syndrome, type 1G NCBI curation 606943 Feb 16 2016 7399 USH2A C3151138 Retinitis pigmentosa 39 NCBI curation 613809 Feb 16 2016 7399 USH2A C1848634 Usher syndrome, type 2A NCBI curation 276901 Feb 16 2016 11274 USP18 C4479376 Pseudo-TORCH syndrome 2 NCBI curation 617397 Dec 24 2019 389856 USP27X C4310816 Mental retardation, X-linked 105 NCBI curation 300984 Jun 20 2017 85015 USP45 C5193139 LEBER CONGENITAL AMAUROSIS 19 OMIM 618513 618513 Jul 26 2019 9101 USP8 C0221406 Pituitary dependent hypercortisolism NCBI curation 219090 Feb 16 2016 8239 USP9X C4225416 Mental retardation, X-linked 99, syndromic, female-restricted NCBI curation 300968 May 26 2016 8239 USP9X C3806746 Mental retardation, X-linked 99 NCBI curation 300919 Feb 16 2016 8287 USP9Y C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 57654 UVSSA C3553328 UV-sensitive syndrome 3 NCBI curation 614640 Feb 16 2016 55697 VAC14 C4310743 Striatonigral degeneration, childhood-onset NCBI curation 617054 Aug 24 2016 6843 VAMP1 C1970107 Ataxia, spastic, 1, autosomal dominant NCBI curation 108600 Feb 16 2016 6843 VAMP1 C5193027 MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC OMIM 618323 618323 Feb 20 2019 6844 VAMP2 C5231491 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS OMIM 618760 618760 Feb 2 2020 81839 VANGL1 C3891448 Neural tube defect Human Phenotype Ontology HP:0045005 182940 Feb 16 2016 81839 VANGL1 C1838568 Caudal regression sequence MONDO MONDO:0017607 600145 Apr 17 2020 57216 VANGL2 C3891448 Neural tube defect Human Phenotype Ontology HP:0045005 182940 Feb 16 2016 9217 VAPB C1866777 Adult proximal spinal muscular atrophy, autosomal dominant NCBI curation 182980 Feb 16 2016 9217 VAPB C1837728 Amyotrophic lateral sclerosis type 8 608627 Feb 16 2016 7407 VARS1 C4540493 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY OMIM 617802 617802 Dec 10 2017 57176 VARS2 C4014660 Combined oxidative phosphorylation deficiency 20 NCBI curation 615917 Feb 16 2016 11023 VAX1 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 Sep 1 2017 11023 VAX1 C3553077 Microphthalmia, syndromic 11 NCBI curation 614402 Feb 16 2016 1462 VCAN C0339540 Wagner syndrome NCBI curation 143200 Feb 16 2016 7414 VCL C0007193 Primary dilated cardiomyopathy NCBI curation Feb 16 2016 7414 VCL C1969639 Dilated cardiomyopathy 1W NCBI curation C1969639 611407 Feb 16 2016 7414 VCL C2750459 Familial hypertrophic cardiomyopathy 15 NCBI curation 613255 Feb 16 2016 7415 VCP C1833662 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia NCBI curation Jan 18 2020 7415 VCP C4551951 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 NCBI curation 167320 Jan 18 2020 7415 VCP C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 Feb 16 2016 7415 VCP C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 Feb 16 2016 7415 VCP C3151403 Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia NCBI curation 613954 Feb 16 2016 7415 VCP C4225244 Charcot-Marie-Tooth disease, axonal, type 2y NCBI curation 616687 Feb 16 2016 9084 VCY C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 7421 VDR C0342646 Vitamin D-dependent rickets, type 2 277440 Feb 16 2016 7422 VEGFA C2676832 Microvascular complications of diabetes 1 NCBI curation 603933 Feb 16 2016 7424 VEGFC C4747769 Lymphedema, hereditary, ID NCBI curation 615907 Mar 10 2016 7428 VHL C0019562 Von Hippel-Lindau syndrome 193300 Feb 16 2016 7428 VHL C1837915 Erythrocytosis, familial, 2 NCBI curation 263400 Feb 16 2016 7428 VHL C3160732 Renal cell carcinoma, nonpapillary NCBI curation 144700 Feb 16 2016 7428 VHL C0031511 Pheochromocytoma Human Phenotype Ontology HP:0002666 171300 Feb 16 2016 7431 VIM C3805411 Cataract 30 NCBI curation 116300 Dec 26 2017 63894 VIPAS39 C3150672 Arthrogryposis, renal dysfunction, and cholestasis 2 NCBI curation 613404 Feb 16 2016 79001 VKORC1 C1843832 Vitamin K-dependent clotting factors, combined deficiency of, 2 NCBI curation 607473 Jan 30 2020 79001 VKORC1 C0750384 Warfarin response NCBI curation 122700 Feb 16 2016 7436 VLDLR C4551552 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 NCBI curation 224050 May 23 2016 203547 VMA21 C1839615 X-linked myopathy with excessive autophagy MONDO MONDO:0010684 310440 Apr 22 2020 55823 VPS11 C4225247 Leukodystrophy, hypomyelinating, 12 NCBI curation 616683 Feb 16 2016 23230 VPS13A C0393576 Choreoacanthocytosis 200150 Feb 16 2016 157680 VPS13B C0265223 Cohen syndrome NCBI curation 216550 Jun 30 2016 54832 VPS13C C4225186 Parkinson disease 23, autosomal recessive early-onset NCBI curation 616840 May 26 2016 55187 VPS13D C1846492 Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO MONDO:0011811 607317 Apr 17 2020 65082 VPS33A C4310627 Mucopolysaccharidosis-plus syndrome NCBI curation 617303 Jun 20 2017 26276 VPS33B C1859722 Arthrogryposis, renal dysfunction, and cholestasis 1 NCBI curation 208085 Jan 21 2020 55737 VPS35 C3280133 Parkinson disease 17 NCBI curation 614203 Feb 16 2016 137492 VPS37A C3539494 Spastic paraplegia 53, autosomal recessive NCBI curation 614898 Feb 16 2016 11311 VPS45 C3809031 Severe congenital neutropenia 5, autosomal recessive NCBI curation 615285 Feb 16 2016 738 VPS51 C5231425 PONTOCEREBELLAR HYPOPLASIA, TYPE 13 OMIM 618606 618606 Oct 4 2019 55275 VPS53 C4014488 Pontocerebellar hypoplasia, type 2e NCBI curation 615851 Feb 16 2016 7443 VRK1 CN032785 Pontocerebellar hypoplasia type 1A NCBI curation 607596 May 25 2017 30813 VSX1 C1835677 Keratoconus 1 NCBI curation 148300 Feb 16 2016 30813 VSX1 C3280099 Craniofacial anomalies and anterior segment dysgenesis syndrome NCBI curation 614195 Feb 16 2016 338917 VSX2 C1864721 Microphthalmia, isolated, with coloboma 3 NCBI curation 610092 Feb 16 2016 338917 VSX2 C1864720 Microphthalmia, isolated 2 NCBI curation 610093 Feb 16 2016 200403 VWA3B C4310781 Spinocerebellar ataxia, autosomal recessive 22 NCBI curation 616948 Oct 23 2016 7450 VWF C1264039 von Willebrand disease type 1 NCBI curation 193400 Feb 16 2016 7450 VWF C1848525 Von Willebrand disease, recessive form 277480 Feb 16 2016 7450 VWF C1264040 von Willebrand disease type 2 NCBI curation 613554 Feb 16 2016 51322 WAC C4225239 Desanto-shinawi syndrome NCBI curation 616708 Feb 16 2016 7453 WARS1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 Feb 16 2016 7453 WARS1 C4540265 Neuronopathy, distal hereditary motor, type 9 MONDO MONDO:0060585 617721 Apr 22 2020 10352 WARS2 C4540192 NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES OMIM 617710 617710 Oct 12 2017 7454 WAS C1839163 X-linked thrombocytopenia with normal platelets MONDO MONDO:0010743 313900 Apr 17 2020 7454 WAS C0043194 Wiskott-Aldrich syndrome NCBI curation 301000 Feb 16 2016 7454 WAS C1845987 X-linked severe congenital neutropenia MONDO MONDO:0010294 300299 Apr 22 2020 8936 WASF1 C5231469 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES OMIM 618707 618707 Dec 21 2019 23325 WASHC4 C4014386 Mental retardation, autosomal recessive 43 NCBI curation 615817 Feb 16 2016 9897 WASHC5 C4551776 Ritscher-Schinzel syndrome 1 NCBI curation 220210 Jan 26 2020 9897 WASHC5 C1863704 Hereditary spastic paraplegia 8 MONDO MONDO:0011339 603563 Apr 22 2020 23558 WBP2 C4539964 DEAFNESS, AUTOSOMAL RECESSIVE 107 OMIM 617639 617639 Aug 26 2017 23001 WDFY3 C4479608 Microcephaly 18, primary, autosomal dominant NCBI curation 617520 Jun 20 2017 51057 WDPCP C1857587 Congenital heart defects, hamartomas of tongue, and polysyndactyly NCBI curation 217085 May 28 2020 51057 WDPCP C3150127 Bardet-Biedl syndrome 15 NCBI curation 615992 Feb 16 2016 55717 WDR11 C0342384 Hypogonadotropic hypogonadism 7 with or without anosmia NCBI curation 146110 Mar 6 2016 55717 WDR11 C3540450 Hypogonadotropic hypogonadism 14 with or without anosmia NCBI curation 614858 Feb 16 2016 57728 WDR19 C3280598 Asphyxiating thoracic dystrophy 5 NCBI curation 614376 Feb 16 2016 57728 WDR19 C3280612 Nephronophthisis 13 NCBI curation 614377 Feb 16 2016 57728 WDR19 C4225376 Senior-Loken syndrome 8 NCBI curation 616307 Oct 23 2016 57728 WDR19 C3280616 Cranioectodermal dysplasia 4 NCBI curation 614378 Feb 16 2016 80232 WDR26 C4539927 SKRABAN-DEARDORFF SYNDROME OMIM 617616 617616 Aug 17 2017 57539 WDR35 C3279792 Short rib polydactyly syndrome 5 NCBI curation 614091 Feb 16 2016 57539 WDR35 C3150874 Cranioectodermal dysplasia 2 NCBI curation 613610 Feb 16 2016 134430 WDR36 C1835933 Glaucoma 1, open angle, G NCBI curation 609887 Feb 16 2016 22884 WDR37 C5231443 NEUROOCULOCARDIOGENITOURINARY SYNDROME OMIM 618652 618652 Nov 7 2019 10785 WDR4 C5193043 GALLOWAY-MOWAT SYNDROME 6 OMIM 618347 618347 Mar 10 2019 10785 WDR4 C5193042 MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS OMIM 618346 618346 Mar 10 2019 11152 WDR45 CN168656 Beta-propeller protein-associated neurodegeneration NCBI curation Feb 16 2016 11152 WDR45 C3550973 Neurodegeneration with brain iron accumulation 5 NCBI curation 300894 Feb 16 2016 56270 WDR45B C4693816 NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES OMIM 617977 617977 May 18 2018 284403 WDR62 C1858535 Primary autosomal recessive microcephaly 2 NCBI curation 604317 Feb 16 2016 256764 WDR72 C2750771 Amelogenesis imperfecta, hypomaturation type, IIA3 NCBI curation 613211 Mar 2 2016 84942 WDR73 C4551772 Galloway-Mowat syndrome 1 NCBI curation 251300 Jul 24 2018 124997 WDR81 C4747885 HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES OMIM 617967 617967 Jul 12 2018 124997 WDR81 C2750234 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 NCBI curation 610185 May 23 2016 494551 WEE2 CN257793 OOCYTE MATURATION DEFECT 5 OMIM 617996 617996 Jun 8 2018 7466 WFS1 C3805412 Cataract 41 NCBI curation 116400 Aug 24 2016 7466 WFS1 C3280358 Wolfram-like syndrome, autosomal dominant NCBI curation 614296 Feb 16 2016 7466 WFS1 C0011860 Diabetes mellitus type 2 Human Phenotype Ontology HP:0005978 125853 Jul 6 2018 7466 WFS1 C4551693 Diabetes mellitus AND insipidus with optic atrophy AND deafness 222300 Feb 16 2016 7466 WFS1 C1833021 Autosomal dominant nonsyndromic deafness 6 MONDO MONDO:0010963 600965 Apr 17 2020 7467 WHCR C1956097 4p partial monosomy syndrome 194190 Feb 16 2016 25861 WHRN C1846839 Deafness, autosomal recessive 31 NCBI curation 607084 Feb 16 2016 25861 WHRN C1568249 Usher syndrome, type 2D NCBI curation 611383 Feb 16 2016 7456 WIPF1 C3281001 Wiskott-Aldrich syndrome 2 NCBI curation 614493 Feb 16 2016 26100 WIPI2 C5193105 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES OMIM 618453 618453 Jun 1 2019 65125 WNK1 C2752089 Hereditary sensory and autonomic neuropathy type IIA NCBI curation 201300 Feb 16 2016 65125 WNK1 C1840391 Pseudohypoaldosteronism type 2C NCBI curation 614492 Feb 16 2016 65266 WNK4 C1840390 Pseudohypoaldosteronism type 2B NCBI curation 614491 Feb 16 2016 7471 WNT1 C3808844 Osteogenesis imperfecta, type xv NCBI curation 615220 Aug 24 2016 7471 WNT1 C3714945 Bone mineral density quantitative trait locus 16 NCBI curation 615221 Feb 16 2016 80326 WNT10A C1835492 Tooth agenesis, selective, 4 NCBI curation 150400 Feb 16 2016 80326 WNT10A C1857069 Schopf-Schulz-Passarge syndrome NCBI curation 224750 Feb 16 2016 80326 WNT10A C0796093 Odonto-onycho-dermal dysplasia MONDO MONDO:0009773 257980 Apr 17 2020 7480 WNT10B C4310730 Tooth agenesis, selective, 8 NCBI curation 617073 Aug 24 2016 7480 WNT10B C2749665 Split-hand/foot malformation 6 NCBI curation 225300 Feb 16 2016 7482 WNT2B C4748517 DIARRHEA 9 OMIM 618168 618168 Nov 2 2018 7473 WNT3 C4012268 Tetraamelia, autosomal recessive NCBI curation 273395 Feb 16 2016 54361 WNT4 C2678492 Serkal syndrome 611812 Feb 16 2016 54361 WNT4 C2675014 Mullerian aplasia and hyperandrogenism NCBI curation 158330 Feb 16 2016 7474 WNT5A C4551475 Robinow syndrome, autosomal dominant 1 NCBI curation 180700 Dec 21 2019 7476 WNT7A C1848651 Schinzel phocomelia syndrome NCBI curation 276820 Jan 13 2020 7476 WNT7A C1856728 Fuhrmann syndrome 228930 Feb 16 2016 55135 WRAP53 C3151442 Dyskeratosis congenita, autosomal recessive, 3 NCBI curation 613988 Feb 16 2016 7486 WRN C0043119 Werner syndrome 277700 Feb 16 2016 7490 WT1 C0344542 Aniridia 1 NCBI curation 106210 Oct 31 2016 7490 WT1 CN033288 Wilms tumor 1 NCBI curation 194070 Feb 16 2016 7490 WT1 C0345967 Mesothelioma, malignant 156240 Feb 16 2016 7490 WT1 C0950122 Frasier syndrome 136680 Feb 16 2016 7490 WT1 C0206115 Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome NCBI curation 194072 Jul 1 2016 7490 WT1 C1837026 Meacham syndrome NCBI curation 608978 Feb 16 2016 7490 WT1 C3151568 Nephrotic syndrome, type 4 MONDO MONDO:0009733 256370 May 9 2020 7490 WT1 C0950121 Drash syndrome 194080 Feb 16 2016 23286 WWC1 C3810089 Memory quantitative trait locus NCBI curation 615602 Feb 16 2016 51741 WWOX C0546837 Malignant tumor of esophagus NCBI curation 133239 Feb 16 2016 51741 WWOX C4015519 Epileptic encephalopathy, early infantile, 28 NCBI curation 616211 Feb 16 2016 51741 WWOX C3280452 Spinocerebellar ataxia, autosomal recessive 12 NCBI curation 614322 Feb 16 2016 7494 XBP1 C2700438 Major affective disorder 7 NCBI curation 612371 Feb 16 2016 7498 XDH C0268118 Deficiency of xanthine oxidase NCBI curation 278300 Feb 16 2016 331 XIAP C1868674 Lymphoproliferative syndrome 1, X-linked NCBI curation 308240 Feb 16 2016 331 XIAP C1845076 Lymphoproliferative syndrome 2, X-linked NCBI curation 300635 Feb 16 2016 7503 XIST C1848138 X inactivation, familial skewed, 1 NCBI curation 300087 Feb 16 2016 7504 XK C0398568 McLeod neuroacanthocytosis syndrome 300842 Feb 16 2016 9082 XKRY C1839071 Spermatogenic failure, Y-linked 2 NCBI curation 415000 Feb 16 2016 7507 XPA C0268135 Xeroderma pigmentosum group A MONDO MONDO:0010210 278700 Apr 22 2020 7508 XPC C2752147 Xeroderma pigmentosum, group C NCBI curation 278720 Feb 16 2016 7512 XPNPEP2 C3806711 Angioedema induced by ACE inhibitors, susceptibility to NCBI curation 300909 Feb 16 2016 63929 XPNPEP3 C3150419 Nephronophthisis-like nephropathy 1 NCBI curation 613159 Feb 16 2016 9213 XPR1 C4225335 Basal ganglia calcification, idiopathic, 6 NCBI curation 616413 Feb 16 2016 7515 XRCC1 C4539948 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 OMIM 617633 617633 Aug 24 2017 7516 XRCC2 C4310651 Fanconi anemia, complementation group U NCBI curation 617247 Jun 20 2017 7517 XRCC3 C3151417 Cutaneous malignant melanoma 6 NCBI curation 613972 Feb 16 2016 7517 XRCC3 C0006142 Familial cancer of breast NCBI curation 114480 Feb 16 2016 7518 XRCC4 C4225288 Short stature, microcephaly, and endocrine dysfunction NCBI curation 616541 Feb 16 2016 64131 XYLT1 C4014294 Desbuquois dysplasia 2 NCBI curation 615777 Feb 16 2016 64131 XYLT1 C0033847 Pseudoxanthoma elasticum 264800 Feb 16 2016 64132 XYLT2 C0033847 Pseudoxanthoma elasticum 264800 Feb 16 2016 64132 XYLT2 C4225412 Spondyloocular syndrome, autosomal recessive NCBI curation 605822 Feb 16 2016 10413 YAP1 C3805432 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NCBI curation 120433 Aug 24 2016 8565 YARS1 C1842237 Charcot-Marie-Tooth disease, dominant intermediate C NCBI curation 608323 Feb 16 2016 51067 YARS2 C3150802 Myopathy, lactic acidosis, and sideroblastic anemia 2 NCBI curation 613561 Feb 16 2016 55689 YEATS2 C3554560 Epilepsy, familial adult myoclonic, 4 NCBI curation 615127 Feb 16 2016 10730 YME1L1 C4310628 Optic atrophy 11 NCBI curation 617302 Jun 20 2017 7532 YWHAG C4540034 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 OMIM 617665 617665 Sep 21 2017 7528 YY1 C4479652 Gabriele de Vries syndrome MONDO MONDO:0044738 617557 Apr 22 2020 55249 YY1AP1 C1865267 Grange syndrome NCBI curation 602531 Jun 20 2017 7535 ZAP70 C1849236 Combined immunodeficiency due to ZAP70 deficiency MONDO MONDO:0010023 269840 Apr 17 2020 7535 ZAP70 C4310768 Autoimmune disease, multisystem, infantile-onset, 2 NCBI curation 617006 Jul 17 2016 27107 ZBTB11 C5193067 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 OMIM 618383 618383 Apr 12 2019 7704 ZBTB16 C2676231 Skeletal defects, genital hypoplasia, and mental retardation NCBI curation 612447 Feb 16 2016 10472 ZBTB18 C3808184 Mental retardation, autosomal dominant 22 NCBI curation 612337 Aug 24 2016 26137 ZBTB20 C0796121 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome MONDO MONDO:0009798 259050 Apr 17 2020 9841 ZBTB24 C3279748 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 NCBI curation 614069 Feb 16 2016 100128927 ZBTB42 C4015686 Lethal congenital contracture syndrome 6 NCBI curation 616248 Feb 16 2016 79882 ZC3H14 C4310703 Mental retardation, autosomal recessive 56 NCBI curation 617125 Jun 20 2017 55906 ZC4H2 C0796200 Intellectual disability-developmental delay-contractures syndrome MONDO MONDO:0010758 314580 May 29 2020 55906 ZC4H2 CN272919 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED OMIM 301041 301041 Apr 11 2020 55596 ZCCHC8 C5231457 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 OMIM 618674 618674 Nov 29 2019 51114 ZDHHC9 C3275406 Mental retardation, X-linked, syndromic, Raymond type NCBI curation 300799 Jul 10 2017 6935 ZEB1 C1836724 Posterior polymorphous corneal dystrophy 3 NCBI curation 609141 Jun 30 2016 6935 ZEB1 C2750448 Corneal dystrophy, Fuchs endothelial, 6 NCBI curation 613270 Feb 16 2016 9839 ZEB2 C1856113 Mowat-Wilson syndrome 235730 Feb 16 2016 57623 ZFAT C1842444 Autoimmune thyroid disease 3 NCBI curation 608175 Feb 16 2016 85446 ZFHX2 C4538468 Indifference to pain, congenital, autosomal dominant NCBI curation 147430 Feb 16 2016 463 ZFHX3 C0376358 Malignant tumor of prostate NCBI curation 176807 Feb 16 2016 79776 ZFHX4 C1867438 Ptosis, hereditary congenital 1 NCBI curation 178300 Feb 16 2016 346171 ZFP57 C1832386 Transient neonatal diabetes mellitus 1 NCBI curation 601410 Feb 16 2016 23414 ZFPM2 C1857781 Diaphragmatic hernia 3 NCBI curation 610187 Feb 16 2016 23414 ZFPM2 C4015129 46,XY sex reversal 9 NCBI curation 616067 Feb 16 2016 23414 ZFPM2 C0039685 Tetralogy of Fallot Human Phenotype Ontology HP:0001636 187500 Feb 16 2016 23503 ZFYVE26 C1849128 Hereditary spastic paraplegia 15 MONDO MONDO:0010044 270700 Apr 17 2020 118813 ZFYVE27 C1853251 Spastic paraplegia 33, autosomal dominant NCBI curation 610244 Feb 16 2016 7545 ZIC1 C4225269 Craniosynostosis 6 NCBI curation 616602 Feb 16 2016 7545 ZIC1 C5231485 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS OMIM 618736 618736 Jan 16 2020 7546 ZIC2 C1864827 Holoprosencephaly 5 NCBI curation 609637 Feb 16 2016 7547 ZIC3 C2931228 VACTERL association with hydrocephaly, X-linked 314390 Feb 16 2016 7547 ZIC3 C1844020 Heterotaxy, visceral, 1, X-linked MONDO MONDO:0010607 306955 Apr 22 2020 57178 ZMIZ1 C5231448 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES OMIM 618659 618659 Nov 24 2019 10269 ZMPSTE24 C1837756 Mandibuloacral dysplasia with type B lipodystrophy 608612 Feb 16 2016 10269 ZMPSTE24 C0406585 Lethal tight skin contracture syndrome 275210 Feb 16 2016 51364 ZMYND10 C3809543 Ciliary dyskinesia, primary, 22 NCBI curation 615444 Feb 16 2016 10771 ZMYND11 C4015167 Mental retardation, autosomal dominant 30 NCBI curation 616083 Feb 16 2016 84225 ZMYND15 C4014454 Spermatogenic failure 14 NCBI curation 615842 Feb 16 2016 7700 ZNF141 C3808889 Postaxial polydactyly type A6 NCBI curation 615226 Feb 16 2016 7701 ZNF142 C5193088 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS OMIM 618425 618425 May 12 2019 7702 ZNF143 CN043592 Disorders of Intracellular Cobalamin Metabolism Feb 16 2016 7707 ZNF148 C4310644 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies NCBI curation 617260 Jun 20 2017 63925 ZNF335 C3554499 Primary autosomal recessive microcephaly 10 NCBI curation 615095 Feb 16 2016 84905 ZNF341 C4748969 HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE OMIM 618282 618282 Jan 18 2019 22891 ZNF365 C2700426 Uric acid nephrolithiasis, susceptibility to NCBI curation 605990 Feb 16 2016 79797 ZNF408 C4225316 Exudative vitreoretinopathy 6 NCBI curation 616468 Feb 16 2016 79797 ZNF408 C4225315 Retinitis pigmentosa 72 NCBI curation 616469 Feb 16 2016 23090 ZNF423 C3539071 Nephronophthisis 14 NCBI curation 614844 Feb 16 2016 58499 ZNF462 C5231429 WEISS-KRUSZKA SYNDROME OMIM 618619 618619 Oct 13 2019 84627 ZNF469 C0268344 Brittle cornea syndrome 1 NCBI curation 229200 Jan 11 2020 130557 ZNF513 C3150879 Retinitis pigmentosa 58 NCBI curation 613617 Feb 16 2016 84146 ZNF644 C3279997 Myopia 21, autosomal dominant NCBI curation 614167 Feb 16 2016 57592 ZNF687 C4085250 Paget disease of bone 6 NCBI curation 616833 May 26 2016 7552 ZNF711 C2749020 ZNF711-Related X-linked Mental Retardation NCBI curation 300803 Feb 16 2016 79755 ZNF750 C1853258 Seborrhea-like dermatitis with psoriasiform elements NCBI curation 610227 Feb 16 2016 9326 ZNHIT3 C1850055 PEHO syndrome 260565 Feb 16 2016 22917 ZP1 C4014291 Oocyte maturation defect 1 NCBI curation 615774 Aug 24 2016 7783 ZP2 C5193047 OOCYTE MATURATION DEFECT 6 OMIM 618353 618353 Mar 10 2019 7784 ZP3 C4540205 OOCYTE MATURATION DEFECT 3 OMIM 617712 617712 Oct 11 2017 57688 ZSWIM6 C1863616 Acromelic frontonasal dysostosis 603671 Feb 16 2016 57688 ZSWIM6 C4693405 NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES OMIM 617865 617865 Feb 9 2018 16 AARS1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 16 AARS1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 57505 AARS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 26154 ABCA12 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 26154 ABCA12 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 21 ABCA3 C3711368 Pulmonary surfactant metabolism dysfunction NCBI curation 06 Feb 2020 24 ABCA4 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 24 ABCA4 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 24 ABCA4 C0271093 Stargardt disease Orphanet ORPHA827 27 Oct 2016 10347 ABCA7 C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 19 Feb 2020 8647 ABCB11 CN043628 Low Gamma-GT Familial Intrahepatic Cholestasis NCBI curation 16 Feb 2016 6833 ABCC8 C3888018 Familial hyperinsulinism NCBI curation 16 Feb 2016 6833 ABCC8 C0342273 Transitory neonatal diabetes mellitus NCBI curation 16 Feb 2016 6833 ABCC8 C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 6833 ABCC8 C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 10060 ABCC9 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 10060 ABCC9 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 10060 ABCC9 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 10060 ABCC9 C0004238 Atrial fibrillation Human Phenotype Ontology HP:0005110 06 Jul 2018 34 ACADM C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 37 ACADVL C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 38 ACAT1 C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 1636 ACE CN357508 Microvascular complications of diabetes OMIM phenotypic series PS603933 31 Jul 2017 58 ACTA1 C0206157 Nemaline myopathy OMIM phenotypic series PS161800 16 Feb 2016 59 ACTA2 C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 27 Apr 2020 59 ACTA2 C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 27 Apr 2020 70 ACTC1 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 70 ACTC1 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 70 ACTC1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 70 ACTC1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 70 ACTC1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 70 ACTC1 C0018817 Atrial septal defect Human Phenotype Ontology HP:0001631 16 Feb 2016 70 ACTC1 C0018817 Atrial septal defect OMIM phenotypic series PS108800 16 Feb 2016 71 ACTG1 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 71 ACTG1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 71 ACTG1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 88 ACTN2 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 88 ACTN2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 88 ACTN2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 88 ACTN2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 81 ACTN4 C0017668 Focal segmental glomerulosclerosis OMIM phenotypic series PS603278 16 Feb 2016 81 ACTN4 C0017668 Focal segmental glomerulosclerosis Human Phenotype Ontology HP:0000097 16 Feb 2016 81 ACTN4 C1868672 Hereditary nephrotic syndrome NCBI curation 17 Aug 2016 81 ACTN4 CN043612 Hereditary Nephrotic Syndromes, Autosomal Dominant 16 Feb 2016 94 ACVRL1 C0039445 Hereditary hemorrhagic telangiectasia NCBI curation 26 Jul 2018 100 ADA C0085110 Severe combined immunodeficiency disease 16 Feb 2016 81794 ADAMTS10 C0265313 Weill-Marchesani syndrome OMIM phenotypic series PS277600 16 Feb 2016 9509 ADAMTS2 C4551623 Ehlers-Danlos syndrome, procollagen proteinase deficient 130060 16 Feb 2016 54507 ADAMTSL4 C0013581 Ectopia lentis Human Phenotype Ontology HP:0001083 06 Sep 2016 54507 ADAMTSL4 C0013581 Ectopia lentis Human Phenotype Ontology HP:0001083 06 Sep 2016 107 ADCY1 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 107 ADCY1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 107 ADCY1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 84059 ADGRV1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 84059 ADGRV1 C0339534 Usher syndrome type 2 16 Feb 2016 126 ADH1C C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 178 AGL C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 10555 AGPAT2 C0221032 Congenital generalized lipodystrophy (disease) MONDO MONDO:0006536 17 Apr 2020 8540 AGPS CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 8540 AGPS C0282529 Rhizomelic chondrodysplasia punctata OMIM phenotypic series PS215100 16 Feb 2016 189 AGXT C0020501 Primary hyperoxaluria NCBI curation 16 Feb 2016 54806 AHI1 C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 9131 AIFM1 CN118851 Charcot-Marie-Tooth Neuropathy X 16 Feb 2016 9131 AIFM1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 9131 AIFM1 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 23746 AIPL1 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 10142 AKAP9 C0035828 Romano-Ward syndrome 16 Feb 2016 207 AKT1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 207 AKT1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 207 AKT1 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 207 AKT1 C1959582 PTEN hamartoma tumor syndrome NCBI curation 601728 16 Feb 2016 5832 ALDH18A1 C0268350 Cutis laxa, autosomal dominant 12 May 2017 5832 ALDH18A1 C3665335 Cutis laxa, autosomal recessive NCBI curation 16 Feb 2016 226 ALDOA C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 56052 ALG1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 144245 ALG10B C0035828 Romano-Ward syndrome 16 Feb 2016 440138 ALG11 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 79087 ALG12 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 85365 ALG2 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 10195 ALG3 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 29929 ALG6 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 79053 ALG8 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 79796 ALG9 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 238 ALK C0027819 Neuroblastoma Human Phenotype Ontology HP:0003006 256700 16 Feb 2016 242 ALOX12B C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 59344 ALOXE3 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 59344 ALOXE3 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 57679 ALS2 C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 57679 ALS2 C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 57679 ALS2 C3468114 Juvenile amyotrophic lateral sclerosis Orphanet ORPHA300605 24 Dec 2016 60529 ALX4 C1868598 Enlarged parietal foramina Orphanet ORPHA60015 08 Oct 2018 270 AMPD1 C0270984 Metabolic myopathy NCBI curation 16 Feb 2016 271 AMPD2 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 283 ANG C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 283 ANG C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 286 ANK1 C0037889 Hereditary spherocytosis NCBI curation 16 Feb 2016 27063 ANKRD1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 203859 ANO5 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 203859 ANO5 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 203859 ANO5 C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 3730 ANOS1 C0162809 Hypogonadism with anosmia 16 Feb 2016 8546 AP3B1 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 8943 AP3D1 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 324 APC CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 324 APC CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 324 APC CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 324 APC CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 324 APC CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 324 APC CN072436 Desmoid tumor NCBI curation 16 Feb 2016 324 APC C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 324 APC C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 324 APC C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 324 APC C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 324 APC C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 336 APOA2 C0020445 Familial hypercholesterolemia 15 Jan 2020 336 APOA2 C0020476 Hyperlipoproteinemia Human Phenotype Ontology HP:0010980 16 Feb 2016 116519 APOA5 C0020476 Hyperlipoproteinemia Human Phenotype Ontology HP:0010980 16 Feb 2016 338 APOB C0020445 Familial hypercholesterolemia 15 Jan 2020 344 APOC2 CN231410 Familial chylomicronemia syndrome Orphanet ORPHA444490 13 Aug 2016 348 APOE C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 348 APOE CN043596 Early-onset autosomal dominant Alzheimer disease MONDO MONDO:0015140 17 Apr 2020 348 APOE C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 19 Feb 2020 348 APOE C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 19 Feb 2020 348 APOE C0020476 Hyperlipoproteinemia Human Phenotype Ontology HP:0010980 16 Feb 2016 348 APOE CN043623 Late-Onset Familial Alzheimer Disease 16 Feb 2016 359 AQP2 C0162283 Nephrogenic diabetes insipidus Human Phenotype Ontology HP:0009806 16 Feb 2016 367 AR C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 10564 ARFGEF2 C1868720 Periventricular nodular heterotopia OMIM phenotypic series PS300049 16 Feb 2016 383 ARG1 C0154246 Disorder of the urea cycle metabolism 16 Feb 2016 23092 ARHGAP26 CN166718 Rasopathy NCBI curation 16 Feb 2016 57514 ARHGAP31 C0265268 Adams-Oliver syndrome OMIM phenotypic series PS100300 16 Feb 2016 23229 ARHGEF9 C0234166 Hyperekplexia OMIM phenotypic series PS149400 16 Feb 2016 23229 ARHGEF9 C0234166 Hyperekplexia GeneReviews NBK1260 16 Feb 2016 200894 ARL13B C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 84100 ARL6 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 84100 ARL6 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 55130 ARMC4 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 387715 ARMS2 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 170302 ARX C0266463 Lissencephaly Human Phenotype Ontology HP:0001339 16 Feb 2016 170302 ARX C0266463 Lissencephaly OMIM phenotypic series PS607432 16 Feb 2016 170302 ARX C1955869 Malformation of cortical development NCBI curation 16 Feb 2016 136371 ASB10 C0017601 Glaucoma NCBI curation 16 Feb 2016 435 ASL C0154246 Disorder of the urea cycle metabolism 16 Feb 2016 435 ASL C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 443 ASPA CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 259266 ASPM C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 445 ASS1 C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 445 ASS1 C0154246 Disorder of the urea cycle metabolism 16 Feb 2016 472 ATM C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 472 ATM C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 23400 ATP13A2 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 23400 ATP13A2 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 477 ATP1A2 C0338484 Familial hemiplegic migraine 16 Feb 2016 491 ATP2B2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 491 ATP2B2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 491 ATP2B2 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 498 ATP5F1A CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 514 ATP5F1E C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 514 ATP5F1E C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 514 ATP5F1E C0342779 Complex V deficiency NCBI curation 16 Feb 2016 23545 ATP6V0A2 C3665335 Cutis laxa, autosomal recessive NCBI curation 16 Feb 2016 5205 ATP8B1 CN043628 Low Gamma-GT Familial Intrahepatic Cholestasis NCBI curation 16 Feb 2016 91647 ATPAF2 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 91647 ATPAF2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 91647 ATPAF2 C0342779 Complex V deficiency NCBI curation 16 Feb 2016 546 ATRX C0475813 Alpha thalassemia-mental retardation syndrome NCBI curation 16 Feb 2016 6311 ATXN2 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 6315 ATXN8OS C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 554 AVPR2 C0162283 Nephrogenic diabetes insipidus Human Phenotype Ontology HP:0009806 16 Feb 2016 8313 AXIN2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 8313 AXIN2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 2683 B4GALT1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 27077 B9D1 C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 80776 B9D2 C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 9531 BAG3 C2678065 Myofibrillar myopathy Human Phenotype Ontology HP:0003715 16 Feb 2016 9531 BAG3 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 9531 BAG3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 9531 BAG3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 580 BARD1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 79738 BBS10 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 166379 BBS12 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 583 BBS2 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 129880 BBS5 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 55212 BBS7 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 27241 BBS9 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 593 BCKDHA C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 593 BCKDHA C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 594 BCKDHB C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 594 BCKDHB C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 594 BCKDHB C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 594 BCKDHB C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 8915 BCL10 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 54880 BCOR CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 01 Sep 2017 617 BCS1L C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 617 BCS1L C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 617 BCS1L C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 617 BCS1L C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 7439 BEST1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 274 BIN1 C0175709 Centronuclear myopathy MONDO MONDO:0018947 07 Jun 2020 641 BLM CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 388552 BLOC1S3 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 26258 BLOC1S6 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 650 BMP2 C0392514 Hereditary hemochromatosis NCBI curation 16 Feb 2016 652 BMP4 C3266076 Orofacial cleft OMIM phenotypic series PS119530 16 Feb 2016 657 BMPR1A CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 657 BMPR1A CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 657 BMPR1A C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 657 BMPR1A C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 673 BRAF C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 673 BRAF C0028326 Noonan syndrome OMIM phenotypic series PS163950 16 Feb 2016 673 BRAF C0028326 Noonan syndrome OMIM phenotypic series PS163950 16 Feb 2016 673 BRAF C0175704 Noonan syndrome with multiple lentigines Orphanet ORPHA500 26 Apr 2016 673 BRAF CN166718 Rasopathy NCBI curation 16 Feb 2016 673 BRAF CN166718 Rasopathy NCBI curation 16 Feb 2016 673 BRAF CN166718 Rasopathy NCBI curation 16 Feb 2016 673 BRAF CN166718 Rasopathy NCBI curation 16 Feb 2016 672 BRCA1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 672 BRCA1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 672 BRCA1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 675 BRCA2 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 675 BRCA2 C0017638 Glioma Human Phenotype Ontology HP:0009733 16 Feb 2016 675 BRCA2 C0017638 Glioma OMIM phenotypic series PS137800 16 Feb 2016 675 BRCA2 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 675 BRCA2 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 675 BRCA2 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 675 BRCA2 C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 675 BRCA2 C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 675 BRCA2 C0027708 Nephroblastoma Human Phenotype Ontology HP:0002667 16 Feb 2016 83990 BRIP1 C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 83990 BRIP1 C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 83990 BRIP1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 83990 BRIP1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 26580 BSCL2 CN169884 Distal hereditary motor neuronopathy NCBI curation 16 Feb 2016 26580 BSCL2 CN118836 GARS-Associated Axonal Neuropathy 16 Feb 2016 26580 BSCL2 C0221032 Congenital generalized lipodystrophy (disease) MONDO MONDO:0006536 17 Apr 2020 26580 BSCL2 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 26580 BSCL2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 686 BTD CN043572 Biotin-Responsive Multiple Carboxylase Deficiencies 16 Feb 2016 686 BTD C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 695 BTK C0342381 Idiopathic growth hormone deficiency NCBI curation 16 Feb 2016 701 BUB1B C1850343 Mosaic variegated aneuploidy syndrome OMIM phenotypic series PS257300 16 Aug 2017 701 BUB1B C1850343 Mosaic variegated aneuploidy syndrome Orphanet ORPHA1052 16 Aug 2017 91574 C12orf65 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 83636 C19orf12 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 708 C1QBP CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 718 C3 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 718 C3 C2931788 Atypical hemolytic uremic syndrome NCBI curation 16 Feb 2016 718 C3 C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 762 CA4 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 773 CACNA1A C1720189 Episodic ataxia OMIM phenotypic series PS160120 16 Feb 2016 773 CACNA1A C1720189 Episodic ataxia Human Phenotype Ontology HP:0002131 16 Feb 2016 773 CACNA1A C0338484 Familial hemiplegic migraine 16 Feb 2016 775 CACNA1C C1142166 Brugada syndrome OMIM phenotypic series PS601144 16 Feb 2016 778 CACNA1F CN043584 Congenital stationary night blindness, X-linked NCBI curation 16 Feb 2016 778 CACNA1F C0339535 Congenital stationary night blindness Human Phenotype Ontology HP:0007642 16 Feb 2016 8912 CACNA1H C2750892 Epilepsy, juvenile absence, susceptibility to, 1 NCBI curation 607631 02 Jan 2020 8912 CACNA1H C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 779 CACNA1S C0024591 Malignant hyperthermia susceptibility NCBI curation 16 Feb 2016 779 CACNA1S C0238358 Hypokalemic periodic paralysis NCBI curation 16 Feb 2016 783 CACNB2 C1142166 Brugada syndrome OMIM phenotypic series PS601144 16 Feb 2016 785 CACNB4 C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 785 CACNB4 C0270853 Juvenile myoclonic epilepsy 254770 16 Feb 2016 785 CACNB4 C1720189 Episodic ataxia Human Phenotype Ontology HP:0002131 16 Feb 2016 785 CACNB4 C1720189 Episodic ataxia OMIM phenotypic series PS160120 16 Feb 2016 825 CAPN3 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 825 CAPN3 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 825 CAPN3 C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 79587 CARS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 843 CASP10 C1328840 Autoimmune lymphoproliferative syndrome 601859 16 Feb 2016 841 CASP8 C1328840 Autoimmune lymphoproliferative syndrome 601859 16 Feb 2016 841 CASP8 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 841 CASP8 C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 857 CAV1 C4552070 Primary pulmonary hypertension 178600 16 Feb 2016 859 CAV3 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 859 CAV3 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 859 CAV3 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 859 CAV3 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 859 CAV3 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 859 CAV3 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 859 CAV3 CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 859 CAV3 CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 859 CAV3 CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 859 CAV3 C0035828 Romano-Ward syndrome 16 Feb 2016 859 CAV3 CN043575 Caveolinopathy Orphanet ORPHA207078 06 Mar 2016 859 CAV3 CN043575 Caveolinopathy Orphanet ORPHA207078 06 Mar 2016 859 CAV3 CN043575 Caveolinopathy Orphanet ORPHA207078 06 Mar 2016 859 CAV3 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 859 CAV3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 867 CBL CN166718 Rasopathy NCBI curation 16 Feb 2016 867 CBL CN166718 Rasopathy NCBI curation 16 Feb 2016 84733 CBX2 C2936694 Pure gonadal dysgenesis 46,XY NCBI curation 16 Feb 2016 57545 CC2D2A C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 57545 CC2D2A C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 388389 CCDC103 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 93233 CCDC114 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 115948 CCDC151 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 79140 CCDC28B C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 339829 CCDC39 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 55036 CCDC40 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 152137 CCDC50 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 152137 CCDC50 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 152137 CCDC50 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 85478 CCDC65 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 83987 CCDC8 CN073943 Three M syndrome OMIM phenotypic series PS273750 16 Feb 2016 440193 CCDC88C C0020256 Congenital hydrocephalus Orphanet ORPHA2185 27 Sep 2018 440193 CCDC88C C0020255 Hydrocephalus Human Phenotype Ontology HP:0000238 16 Feb 2016 83605 CCM2 C2919945 Cerebral cavernous malformation 116860 16 Feb 2016 10309 CCNO C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 4179 CD46 C2931788 Atypical hemolytic uremic syndrome NCBI curation 16 Feb 2016 4179 CD46 C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 146059 CDAN1 C0002876 Congenital dyserythropoietic anemia Orphanet ORPHA85 25 May 2016 8556 CDC14A CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 8556 CDC14A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 8556 CDC14A CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 999 CDH1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 999 CDH1 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 999 CDH1 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 64072 CDH23 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 64072 CDH23 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 64072 CDH23 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 64072 CDH23 C1568247 Usher syndrome type 1 MONDO MONDO:0010168 276900 22 Apr 2020 64072 CDH23 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 1019 CDK4 C0151779 Malignant melanoma of skin NCBI curation 16 Feb 2016 1019 CDK4 C1512419 Hereditary cutaneous melanoma NCBI curation 16 Feb 2016 1019 CDK4 C0025202 Cutaneous melanoma Human Phenotype Ontology HP:0012056 10 May 2018 55755 CDK5RAP2 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 1021 CDK6 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 1029 CDKN2A C0025202 Cutaneous melanoma Human Phenotype Ontology HP:0012056 10 May 2018 1029 CDKN2A C1512419 Hereditary cutaneous melanoma NCBI curation 16 Feb 2016 1029 CDKN2A C0151779 Malignant melanoma of skin NCBI curation 16 Feb 2016 1062 CENPE C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 1063 CENPF C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 55835 CENPJ C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 9662 CEP135 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 22995 CEP152 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 80184 CEP290 C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 80184 CEP290 C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 80184 CEP290 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 80184 CEP290 C0403553 Renal dysplasia and retinal aplasia NCBI curation 16 Feb 2016 80184 CEP290 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 9702 CEP57 C1850343 Mosaic variegated aneuploidy syndrome OMIM phenotypic series PS257300 16 Aug 2017 9702 CEP57 C1850343 Mosaic variegated aneuploidy syndrome Orphanet ORPHA1052 16 Aug 2017 375298 CERKL C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 204219 CERS3 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 56683 CFAP298 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 85016 CFAP300 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 629 CFB C2931788 Atypical hemolytic uremic syndrome NCBI curation 16 Feb 2016 629 CFB C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 55997 CFC1 C0040761 Transposition of the great arteries 16 Feb 2016 3075 CFH C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 3075 CFH C2931788 Atypical hemolytic uremic syndrome NCBI curation 16 Feb 2016 3075 CFH C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 3078 CFHR1 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 3078 CFHR1 C2931788 Atypical hemolytic uremic syndrome NCBI curation 16 Feb 2016 3078 CFHR1 C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 10878 CFHR3 C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 10878 CFHR3 C2931788 Atypical hemolytic uremic syndrome NCBI curation 16 Feb 2016 10878 CFHR3 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 10877 CFHR4 C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 81494 CFHR5 C0268743 Mesangiocapillary glomerulonephritis, type II NCBI curation 16 Feb 2016 3426 CFI C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 3426 CFI C2931788 Atypical hemolytic uremic syndrome NCBI curation 16 Feb 2016 3426 CFI C0019250 Hereditary factor I deficiency disease NCBI curation 16 Feb 2016 1073 CFL2 C0206157 Nemaline myopathy OMIM phenotypic series PS161800 16 Feb 2016 1080 CFTR CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 1103 CHAT C0751882 Congenital myasthenic syndrome NCBI curation 16 Feb 2016 55636 CHD7 C0162809 Hypogonadism with anosmia 16 Feb 2016 11200 CHEK2 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 11200 CHEK2 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 11200 CHEK2 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 11200 CHEK2 C0085390 Li-Fraumeni syndrome OMIM phenotypic series PS151623 16 Feb 2016 5119 CHMP1A C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 1123 CHN1 C0013261 Duane's syndrome NCBI curation 16 Feb 2016 1134 CHRNA1 C0751882 Congenital myasthenic syndrome NCBI curation 16 Feb 2016 1134 CHRNA1 C0751882 Congenital myasthenic syndrome NCBI curation 16 Feb 2016 1135 CHRNA2 C3696898 Autosomal dominant nocturnal frontal lobe epilepsy NCBI curation 16 Feb 2016 1137 CHRNA4 C3696898 Autosomal dominant nocturnal frontal lobe epilepsy NCBI curation 16 Feb 2016 1141 CHRNB2 C3696898 Autosomal dominant nocturnal frontal lobe epilepsy NCBI curation 16 Feb 2016 1145 CHRNE C0751882 Congenital myasthenic syndrome NCBI curation 16 Feb 2016 10518 CIB2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10518 CIB2 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 10518 CIB2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 63924 CIDEC C0271694 Familial partial lipodystrophy NCBI curation 16 Feb 2016 23529 CLCF1 C1832409 Cold-induced sweating syndrome OMIM phenotypic series PS272430 16 Feb 2016 1180 CLCN1 C0027127 Myotonia congenita NCBI curation 16 Feb 2016 1180 CLCN1 C0027127 Myotonia congenita NCBI curation 16 Feb 2016 1181 CLCN2 C3713420 Familial hyperaldosteronism Orphanet ORPHA235936 16 Feb 2016 1181 CLCN2 C0270853 Juvenile myoclonic epilepsy 254770 16 Feb 2016 1181 CLCN2 C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 1184 CLCN5 C0878681 Dent's disease 16 Feb 2016 1186 CLCN7 C4272579 Osteopetrosis, autosomal dominant OMIM phenotypic series PS607634 26 Nov 2017 1188 CLCNKB C0004775 Bartter syndrome OMIM phenotypic series PS601678 10 Sep 2018 23562 CLDN14 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 23562 CLDN14 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 23562 CLDN14 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 1193 CLIC2 CN179857 X chromosome deletion/duplication NCBI curation 16 Feb 2016 1193 CLIC2 C0036868 Anomaly of sex chromosome NCBI curation 16 Feb 2016 1201 CLN3 C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 1203 CLN5 C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 54982 CLN6 C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 2055 CLN8 C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 10978 CLP1 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 8192 CLPP C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 8192 CLPP CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 8192 CLPP CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 8192 CLPP C0685838 Perrault syndrome OMIM phenotypic series PS233400 06 Apr 2018 8192 CLPP C0685838 Perrault syndrome Orphanet ORPHA2855 06 Apr 2018 7401 CLRN1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1261 CNGA3 C0152200 Achromatopsia Human Phenotype Ontology HP:0011516 16 Feb 2016 1258 CNGB1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 54714 CNGB3 C0152200 Achromatopsia Human Phenotype Ontology HP:0011516 16 Feb 2016 8506 CNTNAP1 C0393818 Congenital hypomyelinating neuropathy NCBI curation 01 Dec 2018 84334 COA8 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 84334 COA8 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1690 COCH C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1690 COCH CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 1690 COCH CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 9382 COG1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 25839 COG4 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 10466 COG5 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 57511 COG6 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 91949 COG7 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 84342 COG8 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 1301 COL11A1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1301 COL11A1 C0265253 Stickler syndrome OMIM phenotypic series PS108300 16 Feb 2016 1302 COL11A2 C0265253 Stickler syndrome OMIM phenotypic series PS108300 16 Feb 2016 1302 COL11A2 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 1302 COL11A2 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 1302 COL11A2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1302 COL11A2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1302 COL11A2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1302 COL11A2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 1302 COL11A2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 1308 COL17A1 C0079301 Junctional epidermolysis bullosa MONDO MONDO:0017612 22 Apr 2020 1280 COL2A1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 CN043672 Type II Collagenopathies 16 Feb 2016 1280 COL2A1 C0265253 Stickler syndrome OMIM phenotypic series PS108300 16 Feb 2016 1280 COL2A1 C4275066 Familial avascular necrosis of the femoral head NCBI curation 28 Mar 2017 1281 COL3A1 CN078214 Familial aortopathy NCBI curation 16 Feb 2016 1285 COL4A3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1285 COL4A3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1285 COL4A3 C1567741 Alport syndrome OMIM phenotypic series PS301050 16 Feb 2016 1285 COL4A3 C1567741 Alport syndrome OMIM phenotypic series PS301050 16 Feb 2016 1285 COL4A3 CN076135 Collagen IV-related nephropathies NCBI curation 16 Feb 2016 1285 COL4A3 CN076135 Collagen IV-related nephropathies NCBI curation 16 Feb 2016 1285 COL4A3 CN076135 Collagen IV-related nephropathies NCBI curation 16 Feb 2016 1286 COL4A4 CN076135 Collagen IV-related nephropathies NCBI curation 16 Feb 2016 1286 COL4A4 CN076135 Collagen IV-related nephropathies NCBI curation 16 Feb 2016 1286 COL4A4 C1567741 Alport syndrome OMIM phenotypic series PS301050 16 Feb 2016 1286 COL4A4 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1287 COL4A5 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1287 COL4A5 C1567741 Alport syndrome OMIM phenotypic series PS301050 16 Feb 2016 1287 COL4A5 CN076135 Collagen IV-related nephropathies NCBI curation 16 Feb 2016 1291 COL6A1 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 1291 COL6A1 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 1291 COL6A1 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 1292 COL6A2 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 1292 COL6A2 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 1292 COL6A2 CN117976 Collagen VI-related myopathy NCBI curation 16 Feb 2016 1292 COL6A2 CN117976 Collagen VI-related myopathy NCBI curation 16 Feb 2016 1293 COL6A3 CN117976 Collagen VI-related myopathy NCBI curation 16 Feb 2016 1293 COL6A3 CN117976 Collagen VI-related myopathy NCBI curation 16 Feb 2016 1293 COL6A3 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 1293 COL6A3 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 1297 COL9A1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1297 COL9A1 CN043640 Multiple Epiphyseal Dysplasia, Dominant GeneReviews NBK1123 16 Feb 2016 1297 COL9A1 C0265253 Stickler syndrome OMIM phenotypic series PS108300 16 Feb 2016 1298 COL9A2 C0265253 Stickler syndrome OMIM phenotypic series PS108300 16 Feb 2016 1298 COL9A2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1298 COL9A2 CN043640 Multiple Epiphyseal Dysplasia, Dominant GeneReviews NBK1123 16 Feb 2016 1299 COL9A3 CN043640 Multiple Epiphyseal Dysplasia, Dominant GeneReviews NBK1123 16 Feb 2016 8292 COLQ C0751882 Congenital myasthenic syndrome NCBI curation 16 Feb 2016 1311 COMP CN043640 Multiple Epiphyseal Dysplasia, Dominant GeneReviews NBK1123 16 Feb 2016 1352 COX10 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1352 COX10 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1352 COX10 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1352 COX10 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 84987 COX14 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 84987 COX14 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1355 COX15 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1355 COX15 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 116228 COX20 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 116228 COX20 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1340 COX6B1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1340 COX6B1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1351 COX8A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1351 COX8A C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1356 CP CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 1373 CPS1 C0154246 Disorder of the urea cycle metabolism 16 Feb 2016 1374 CPT1A C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 1376 CPT2 C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 1380 CR2 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 16 Feb 2016 23418 CRB1 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 23418 CRB1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 1387 CREBBP C0035934 Rubinstein-Taybi syndrome OMIM phenotypic series PS180849 13 Feb 2019 1387 CREBBP CN262173 Menke-Hennekam syndrome OMIM phenotypic series PS618332 05 Aug 2019 9244 CRLF1 C1832409 Cold-induced sweating syndrome OMIM phenotypic series PS272430 16 Feb 2016 10491 CRTAP C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 16 Feb 2016 1406 CRX C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 1410 CRYAB C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 1410 CRYAB C2678065 Myofibrillar myopathy Human Phenotype Ontology HP:0003715 16 Feb 2016 1410 CRYAB C0007193 Primary dilated cardiomyopathy NCBI curation 16 Feb 2016 1410 CRYAB C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 1438 CSF2RA C3711368 Pulmonary surfactant metabolism dysfunction NCBI curation 06 Feb 2020 8048 CSRP3 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 8048 CSRP3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 8048 CSRP3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 8048 CSRP3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 8048 CSRP3 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 1471 CST3 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 1476 CSTB Progressive myoclonus epilepsy NCBI curation 16 Feb 2016 80169 CTC1 C2677299 Cerebroretinal microangiopathy with calcifications and cysts NCBI curation 01 Jul 2017 1493 CTLA4 C0007570 Celiac disease Human Phenotype Ontology HP:0002608 16 Feb 2016 1493 CTLA4 C0007570 Celiac disease OMIM phenotypic series PS212750 16 Feb 2016 1499 CTNNB1 C0017638 Glioma Human Phenotype Ontology HP:0009733 16 Feb 2016 1499 CTNNB1 C0017638 Glioma OMIM phenotypic series PS137800 16 Feb 2016 1499 CTNNB1 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 1497 CTNS C4316899 Cystinosis 16 Feb 2016 1497 CTNS C4316899 Cystinosis 16 Feb 2016 1497 CTNS C4316899 Cystinosis 16 Feb 2016 1509 CTSD C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 8452 CUL3 C1840389 Pseudohypoaldosteronism type 2A NCBI curation 145260 15 Jan 2020 9820 CUL7 CN073943 Three M syndrome OMIM phenotypic series PS273750 16 Feb 2016 1528 CYB5A C0272087 Hereditary methemoglobinemia NCBI curation 08 Apr 2018 1727 CYB5R3 C0272087 Hereditary methemoglobinemia NCBI curation 08 Apr 2018 1535 CYBA C0018203 Chronic granulomatous disease 16 Feb 2016 1536 CYBB C0018203 Chronic granulomatous disease 16 Feb 2016 1584 CYP11B1 C0001627 Congenital adrenal hyperplasia Human Phenotype Ontology HP:0008258 16 Feb 2016 1584 CYP11B1 C0014130 Disorder of endocrine system NCBI curation 16 Feb 2016 1584 CYP11B1 C3713420 Familial hyperaldosteronism Orphanet ORPHA235936 16 Feb 2016 1585 CYP11B2 C0268293 Corticosterone 18-monooxygenase deficiency NCBI curation 16 Feb 2016 1585 CYP11B2 C0268293 Corticosterone 18-monooxygenase deficiency NCBI curation 16 Feb 2016 1586 CYP17A1 C0014130 Disorder of endocrine system NCBI curation 16 Feb 2016 1586 CYP17A1 C0001627 Congenital adrenal hyperplasia Human Phenotype Ontology HP:0008258 16 Feb 2016 1589 CYP21A2 C0001627 Congenital adrenal hyperplasia Human Phenotype Ontology HP:0008258 16 Feb 2016 1589 CYP21A2 C0014130 Disorder of endocrine system NCBI curation 16 Feb 2016 1548 CYP2A6 C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 126410 CYP4F22 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 1605 DAG1 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 1605 DAG1 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 1605 DAG1 C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 1629 DBT C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 1629 DBT C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 80067 DCAF17 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 51473 DCDC2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 51473 DCDC2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 51473 DCDC2 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 1639 DCTN1 C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 1639 DCTN1 C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 1641 DCX C0266463 Lissencephaly Human Phenotype Ontology HP:0001339 16 Feb 2016 1641 DCX C1955869 Malformation of cortical development NCBI curation 16 Feb 2016 1641 DCX C0266463 Lissencephaly OMIM phenotypic series PS607432 16 Feb 2016 1643 DDB2 C0043346 Xeroderma pigmentosum NCBI curation 16 Feb 2016 1674 DES C2678065 Myofibrillar myopathy Human Phenotype Ontology HP:0003715 16 Feb 2016 1674 DES C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 1674 DES C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 1674 DES CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 1674 DES C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 1674 DES C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 1674 DES C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 1674 DES C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 1674 DES C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 1716 DGUOK CN069134 Mitochondrial DNA depletion syndrome, hepatocerebral form NCBI curation 16 Feb 2016 1716 DGUOK C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1716 DGUOK C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1716 DGUOK CN043632 Mitochondrial DNA Deletion Syndromes 16 Feb 2016 79947 DHDDS C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 50846 DHH C2936694 Pure gonadal dysgenesis 46,XY NCBI curation 16 Feb 2016 56616 DIABLO CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 56616 DIABLO C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 56616 DIABLO CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 1729 DIAPH1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1729 DIAPH1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 1729 DIAPH1 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 1730 DIAPH2 C0085215 Premature ovarian failure OMIM phenotypic series PS311360 16 Feb 2016 27185 DISC1 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 16 Feb 2016 1736 DKC1 C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 1737 DLAT C0034345 Pyruvate dehydrogenase complex deficiency OMIM phenotypic series PS312170 16 Feb 2016 1737 DLAT C0023264 Leigh syndrome Orphanet ORPHA506 256000 16 Feb 2016 1737 DLAT C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1737 DLAT C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1738 DLD C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 1738 DLD C0023264 Leigh syndrome Orphanet ORPHA506 256000 16 Feb 2016 1738 DLD C0034345 Pyruvate dehydrogenase complex deficiency OMIM phenotypic series PS312170 16 Feb 2016 1738 DLD C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10683 DLL3 C0265343 Jarcho-Levin syndrome NCBI curation 16 Feb 2016 10683 DLL3 CN043670 Autosomal recessive spondylocostal dysostosis Orphanet ORPHA2311 16 Feb 2016 1756 DMD CN043595 Dystrophinopathies NCBI curation 16 Feb 2016 1756 DMD CN043595 Dystrophinopathies NCBI curation 16 Feb 2016 1756 DMD CN043595 Dystrophinopathies NCBI curation 16 Feb 2016 123872 DNAAF1 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 55172 DNAAF2 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 352909 DNAAF3 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 161582 DNAAF4 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 139212 DNAAF6 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 25981 DNAH1 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 8701 DNAH11 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 1767 DNAH5 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 27019 DNAI1 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 64446 DNAI2 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 374407 DNAJB13 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 3300 DNAJB2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 10049 DNAJB6 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 10049 DNAJB6 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 10049 DNAJB6 CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 80331 DNAJC5 C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 83544 DNAL1 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 1785 DNM2 C0175709 Centronuclear myopathy MONDO MONDO:0018947 07 Jun 2020 57572 DOCK6 C0265268 Adams-Oliver syndrome OMIM phenotypic series PS100300 16 Feb 2016 285489 DOK7 C0751882 Congenital myasthenic syndrome NCBI curation 16 Feb 2016 22845 DOLK C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 1798 DPAGT1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 8813 DPM1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 54344 DPM3 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 1804 DPP6 C0340493 Paroxysmal familial ventricular fibrillation NCBI curation 05 Sep 2016 92749 DRC1 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 1814 DRD3 C0270736 Essential tremor 16 Feb 2016 1824 DSC2 C0349788 Arrhythmogenic right ventricular cardiomyopathy NCBI curation 16 Feb 2016 1824 DSC2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 1829 DSG2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 1829 DSG2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 1829 DSG2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 1829 DSG2 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 1829 DSG2 C0349788 Arrhythmogenic right ventricular cardiomyopathy NCBI curation 16 Feb 2016 1832 DSP C0349788 Arrhythmogenic right ventricular cardiomyopathy NCBI curation 16 Feb 2016 1832 DSP C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 84062 DTNBP1 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 50506 DUOX2 C0010308 Congenital hypothyroidism Human Phenotype Ontology HP:0000851 16 Feb 2016 1778 DYNC1H1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 1778 DYNC1H1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 79659 DYNC2H1 C0265275 Jeune thoracic dystrophy 16 Feb 2016 8291 DYSF C2931687 Qualitative or quantitative defects of dysferlin MONDO MONDO:0016145 17 Apr 2020 8291 DYSF C2931687 Qualitative or quantitative defects of dysferlin MONDO MONDO:0016145 17 Apr 2020 8291 DYSF C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 8291 DYSF C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 124454 EARS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 1889 ECE1 C0019569 Hirschsprung disease OMIM phenotypic series PS142623 13 Jan 2017 1889 ECE1 C0019569 Hirschsprung disease Orphanet ORPHA388 13 Jan 2017 9427 ECEL1 C0265213 Distal arthrogryposis Human Phenotype Ontology HP:0005684 16 Feb 2016 1896 EDA C1706004 Hypohidrotic ectodermal dysplasia Human Phenotype Ontology HP:0007607 01 Jun 2016 1896 EDA C1706004 Hypohidrotic ectodermal dysplasia Orphanet ORPHA238468 01 Jun 2016 10913 EDAR C1706004 Hypohidrotic ectodermal dysplasia Human Phenotype Ontology HP:0007607 01 Jun 2016 10913 EDAR C1706004 Hypohidrotic ectodermal dysplasia Human Phenotype Ontology HP:0007607 01 Jun 2016 10913 EDAR C1706004 Hypohidrotic ectodermal dysplasia Orphanet ORPHA238468 01 Jun 2016 10913 EDAR C1706004 Hypohidrotic ectodermal dysplasia Orphanet ORPHA238468 01 Jun 2016 10913 EDAR CN118829 Autosomal hypohidrotic ectodermal dysplasia NCBI curation 16 Feb 2016 10913 EDAR CN118829 Autosomal hypohidrotic ectodermal dysplasia NCBI curation 16 Feb 2016 128178 EDARADD CN118829 Autosomal hypohidrotic ectodermal dysplasia NCBI curation 16 Feb 2016 128178 EDARADD CN118829 Autosomal hypohidrotic ectodermal dysplasia NCBI curation 16 Feb 2016 128178 EDARADD C1706004 Hypohidrotic ectodermal dysplasia Orphanet ORPHA238468 01 Jun 2016 128178 EDARADD C1706004 Hypohidrotic ectodermal dysplasia Orphanet ORPHA238468 01 Jun 2016 128178 EDARADD C1706004 Hypohidrotic ectodermal dysplasia Human Phenotype Ontology HP:0007607 01 Jun 2016 128178 EDARADD C1706004 Hypohidrotic ectodermal dysplasia Human Phenotype Ontology HP:0007607 01 Jun 2016 1906 EDN1 C1865295 Auriculocondylar syndrome OMIM phenotypic series PS602483 16 Feb 2016 1906 EDN1 C1865295 Auriculocondylar syndrome OMIM phenotypic series PS602483 16 Feb 2016 1908 EDN3 C0019569 Hirschsprung disease Orphanet ORPHA388 13 Jan 2017 1908 EDN3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 1908 EDN3 C0019569 Hirschsprung disease OMIM phenotypic series PS142623 13 Jan 2017 1910 EDNRB C0019569 Hirschsprung disease Orphanet ORPHA388 13 Jan 2017 1910 EDNRB C0019569 Hirschsprung disease OMIM phenotypic series PS142623 13 Jan 2017 1910 EDNRB C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 30008 EFEMP2 C3665335 Cutis laxa, autosomal recessive NCBI curation 16 Feb 2016 114327 EFHC1 C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 114327 EFHC1 C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 1956 EGFR C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 54583 EGLN1 C0152264 Familial erythrocytosis NCBI curation 16 Feb 2016 1959 EGR2 C0751036 Charcot-Marie-Tooth disease, type I NCBI curation 16 Feb 2016 1959 EGR2 C0393818 Congenital hypomyelinating neuropathy NCBI curation 01 Dec 2018 1959 EGR2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 1959 EGR2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 1959 EGR2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 1959 EGR2 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 1959 EGR2 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 60528 ELAC2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 1991 ELANE C1853118 Severe congenital neutropenia Orphanet ORPHA42738 16 Feb 2016 2006 ELN C0268350 Cutis laxa, autosomal dominant 12 May 2017 6785 ELOVL4 C0271093 Stargardt disease Orphanet ORPHA827 27 Oct 2016 8518 ELP1 CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 2010 EMD C0410189 Emery-Dreifuss muscular dystrophy OMIM phenotypic series PS310300 16 Feb 2016 2022 ENG C0039445 Hereditary hemorrhagic telangiectasia NCBI curation 26 Jul 2018 2027 ENO3 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 285203 EOGT C0265268 Adams-Oliver syndrome OMIM phenotypic series PS100300 16 Feb 2016 2033 EP300 CN262173 Menke-Hennekam syndrome OMIM phenotypic series PS618332 05 Aug 2019 2033 EP300 C0035934 Rubinstein-Taybi syndrome OMIM phenotypic series PS180849 13 Feb 2019 2033 EP300 C0035934 Rubinstein-Taybi syndrome OMIM phenotypic series PS180849 13 Feb 2019 2034 EPAS1 C0152264 Familial erythrocytosis NCBI curation 16 Feb 2016 2035 EPB41 C0013902 Hereditary elliptocytosis 16 Feb 2016 2038 EPB42 C0037889 Hereditary spherocytosis NCBI curation 16 Feb 2016 4072 EPCAM CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4072 EPCAM C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 4072 EPCAM C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 2053 EPHX2 C0020445 Familial hypercholesterolemia 15 Jan 2020 2053 EPHX2 C0020476 Hyperlipoproteinemia Human Phenotype Ontology HP:0010980 16 Feb 2016 7957 EPM2A Progressive myoclonus epilepsy NCBI curation 16 Feb 2016 2056 EPO CN357508 Microvascular complications of diabetes OMIM phenotypic series PS603933 31 Jul 2017 2057 EPOR C0152264 Familial erythrocytosis NCBI curation 16 Feb 2016 26284 ERAL1 C0685838 Perrault syndrome OMIM phenotypic series PS233400 06 Apr 2018 26284 ERAL1 C0685838 Perrault syndrome Orphanet ORPHA2855 06 Apr 2018 2064 ERBB2 C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 2064 ERBB2 C0017638 Glioma Human Phenotype Ontology HP:0009733 16 Feb 2016 2064 ERBB2 C0017638 Glioma OMIM phenotypic series PS137800 16 Feb 2016 2068 ERCC2 C0043346 Xeroderma pigmentosum NCBI curation 16 Feb 2016 2071 ERCC3 C0043346 Xeroderma pigmentosum NCBI curation 16 Feb 2016 2072 ERCC4 C0043346 Xeroderma pigmentosum NCBI curation 16 Feb 2016 2073 ERCC5 C0043346 Xeroderma pigmentosum NCBI curation 16 Feb 2016 2074 ERCC6 C0009207 Cockayne syndrome 16 Feb 2016 2074 ERCC6 C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 2074 ERCC6 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 1161 ERCC8 C0009207 Cockayne syndrome 16 Feb 2016 2077 ERF C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 83715 ESPN CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 83715 ESPN C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 83715 ESPN CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 2099 ESR1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 2103 ESRRB CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2103 ESRRB C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2103 ESRRB CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 2108 ETFA C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 2109 ETFB C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 2110 ETFDH C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 2130 EWSR1 C0684337 Peripheral neuroepithelioma Human Phenotype Ontology HP:0006717 16 Feb 2016 51010 EXOSC3 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 51010 EXOSC3 C1843504 Pontocerebellar hypoplasia type 1 Orphanet ORPHA2254 10 Sep 2018 11340 EXOSC8 C1843504 Pontocerebellar hypoplasia type 1 Orphanet ORPHA2254 10 Sep 2018 11340 EXOSC8 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 5393 EXOSC9 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 5393 EXOSC9 C1843504 Pontocerebellar hypoplasia type 1 Orphanet ORPHA2254 10 Sep 2018 2132 EXT2 CN072831 Hereditary multiple osteochondromas 16 Feb 2016 2138 EYA1 CN043574 Branchiootorenal Spectrum Disorders 16 Feb 2016 2138 EYA1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2070 EYA4 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2070 EYA4 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 2070 EYA4 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 2070 EYA4 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 2070 EYA4 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 2070 EYA4 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 346007 EYS C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 2161 F12 C0019243 Hereditary angioneurotic edema NCBI curation 16 Feb 2016 2153 F5 C3160733 Venous thrombosis Human Phenotype Ontology HP:0004936 188050 16 Feb 2016 2157 F8 C0684275 Hemophilia 16 Feb 2016 2158 F9 C0684275 Hemophilia 16 Feb 2016 79152 FA2H CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 2184 FAH C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 84140 FAM161A C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 2175 FANCA C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 2175 FANCA C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 2187 FANCB C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 2187 FANCB C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 2176 FANCC C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 2176 FANCC C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 2176 FANCC CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 2177 FANCD2 C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 2177 FANCD2 C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 2178 FANCE C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 2178 FANCE C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 2188 FANCF C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 2188 FANCF C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 2189 FANCG C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 2189 FANCG C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 55215 FANCI C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 55215 FANCI C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 55120 FANCL C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 55120 FANCL C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 10667 FARS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 356 FASLG C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 10516 FBLN5 C0268350 Cutis laxa, autosomal dominant 12 May 2017 10516 FBLN5 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 10516 FBLN5 C3665335 Cutis laxa, autosomal recessive NCBI curation 16 Feb 2016 2200 FBN1 CN078214 Familial aortopathy NCBI curation 16 Feb 2016 2200 FBN1 C0013581 Ectopia lentis Human Phenotype Ontology HP:0001083 06 Sep 2016 2200 FBN1 C0265313 Weill-Marchesani syndrome OMIM phenotypic series PS277600 16 Feb 2016 26235 FBXL4 C4707428 Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form 16 Feb 2016 26235 FBXL4 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 26235 FBXL4 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 26235 FBXL4 CN043632 Mitochondrial DNA Deletion Syndromes 16 Feb 2016 25793 FBXO7 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 2212 FCGR2A CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 197258 FCSK C4693905 Congenital disorder of glycosylation with defective fucosylation OMIM phenotypic series PS618005 24 Feb 2019 2243 FGA C0019250 Hereditary factor I deficiency disease NCBI curation 16 Feb 2016 2244 FGB C0019250 Hereditary factor I deficiency disease NCBI curation 16 Feb 2016 121512 FGD4 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 121512 FGD4 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 2253 FGF8 C0162809 Hypogonadism with anosmia 16 Feb 2016 2260 FGFR1 C0162809 Hypogonadism with anosmia 16 Feb 2016 2260 FGFR1 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2260 FGFR1 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2260 FGFR1 C0079541 Holoprosencephaly sequence NCBI curation 16 Feb 2016 2260 FGFR1 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2260 FGFR1 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2263 FGFR2 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2263 FGFR2 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2263 FGFR2 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2263 FGFR2 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2263 FGFR2 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2263 FGFR2 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2263 FGFR2 C3150099 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis NCBI curation 201750 16 Feb 2016 2263 FGFR2 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2263 FGFR2 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2263 FGFR2 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2263 FGFR2 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2263 FGFR2 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2263 FGFR2 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2263 FGFR2 CN220439 Antley-Bixler syndrome NCBI curation 16 Feb 2016 2263 FGFR2 CN220439 Antley-Bixler syndrome NCBI curation 16 Feb 2016 2261 FGFR3 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2261 FGFR3 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2261 FGFR3 C4551902 Craniosynostosis 1 NCBI curation 123100 16 Feb 2016 2261 FGFR3 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2261 FGFR3 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2261 FGFR3 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 2261 FGFR3 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 2261 FGFR3 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 2266 FGG C0019250 Hereditary factor I deficiency disease NCBI curation 16 Feb 2016 2273 FHL1 C0410189 Emery-Dreifuss muscular dystrophy OMIM phenotypic series PS310300 16 Feb 2016 9896 FIG4 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 9896 FIG4 C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 9896 FIG4 C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 9896 FIG4 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 344018 FIGLA C0085215 Premature ovarian failure OMIM phenotypic series PS311360 16 Feb 2016 60681 FKBP10 C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 16 Feb 2016 79147 FKRP C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 79147 FKRP C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 79147 FKRP C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 79147 FKRP C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 79147 FKRP C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 79147 FKRP C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 79147 FKRP C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 79147 FKRP C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 79147 FKRP C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 2218 FKTN C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 2218 FKTN C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 2218 FKTN C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 2218 FKTN C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 2218 FKTN C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 2218 FKTN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 2218 FKTN C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 2218 FKTN C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 2218 FKTN C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 2218 FKTN C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 2218 FKTN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 2316 FLNA CN043653 Otopalatodigital Spectrum Disorders GeneReviews NBK1393 16 Feb 2016 2316 FLNA CN043653 Otopalatodigital Spectrum Disorders GeneReviews NBK1393 16 Feb 2016 2316 FLNA CN043653 Otopalatodigital Spectrum Disorders GeneReviews NBK1393 16 Feb 2016 2316 FLNA CN043653 Otopalatodigital Spectrum Disorders GeneReviews NBK1393 16 Feb 2016 2316 FLNA C1868720 Periventricular nodular heterotopia OMIM phenotypic series PS300049 16 Feb 2016 2317 FLNB CN163181 Atelosteogenesis OMIM phenotypic series PS108720 16 Feb 2016 2317 FLNB CN163181 Atelosteogenesis OMIM phenotypic series PS108720 16 Feb 2016 2317 FLNB C0175778 Larsen syndrome NCBI curation 16 Feb 2016 2318 FLNC C2678065 Myofibrillar myopathy Human Phenotype Ontology HP:0003715 16 Feb 2016 2332 FMR1 C0085215 Premature ovarian failure OMIM phenotypic series PS311360 16 Feb 2016 2296 FOXC1 C0265341 Rieger syndrome NCBI curation 16 Feb 2016 2299 FOXI1 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 2299 FOXI1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2299 FOXI1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 668 FOXL2 C0085215 Premature ovarian failure OMIM phenotypic series PS311360 16 Feb 2016 25794 FSCN2 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 2495 FTH1 C0392514 Hereditary hemochromatosis NCBI curation 16 Feb 2016 2512 FTL CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 2521 FUS C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 2521 FUS C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 2530 FUT8 C4693905 Congenital disorder of glycosylation with defective fucosylation OMIM phenotypic series PS618005 24 Feb 2019 2395 FXN C0016719 Friedreich's ataxia NCBI curation 16 Feb 2016 8322 FZD4 CN118824 Familial exudative vitreoretinopathy, autosomal dominant NCBI curation 16 Feb 2016 2538 G6PC C0017920 Glycogen storage disease, type I NCBI curation 16 Feb 2016 2538 G6PC C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 92579 G6PC3 C1853118 Severe congenital neutropenia Orphanet ORPHA42738 16 Feb 2016 2548 GAA C0270984 Metabolic myopathy NCBI curation 16 Feb 2016 2548 GAA C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 2549 GAB1 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 2549 GAB1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2549 GAB1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2554 GABRA1 C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 2554 GABRA1 C0270853 Juvenile myoclonic epilepsy 254770 16 Feb 2016 2562 GABRB3 C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 2562 GABRB3 C2750892 Epilepsy, juvenile absence, susceptibility to, 1 NCBI curation 607631 02 Jan 2020 2566 GABRG2 C2750892 Epilepsy, juvenile absence, susceptibility to, 1 NCBI curation 607631 02 Jan 2020 2566 GABRG2 C2750892 Epilepsy, juvenile absence, susceptibility to, 1 NCBI curation 607631 02 Jan 2020 2566 GABRG2 C1838604 Epilepsy, childhood absence 1 NCBI curation 600131 16 Feb 2016 2566 GABRG2 C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 2566 GABRG2 C0270850 Idiopathic generalized epilepsy 600669 16 Feb 2016 2582 GALE C0016952 Galactosemia NCBI curation 16 Feb 2016 2584 GALK1 C0016952 Galactosemia NCBI curation 16 Feb 2016 2588 GALNS C0026707 Morquio syndrome NCBI curation 21 Jun 2017 79695 GALNT12 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 79695 GALNT12 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 2592 GALT C0016952 Galactosemia NCBI curation 16 Feb 2016 2593 GAMT CN227588 Cerebral creatine deficiency syndrome OMIM phenotypic series PS300352 16 Feb 2016 23193 GANAB C0085413 Polycystic kidney disease, autosomal dominant NCBI curation 16 Feb 2016 2617 GARS1 CN169884 Distal hereditary motor neuronopathy NCBI curation 16 Feb 2016 2617 GARS1 CN118836 GARS-Associated Axonal Neuropathy 16 Feb 2016 2617 GARS1 CN118836 GARS-Associated Axonal Neuropathy 16 Feb 2016 2617 GARS1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 2617 GARS1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 2617 GARS1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 2617 GARS1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 2622 GAS8 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 2623 GATA1 C0002876 Congenital dyserythropoietic anemia Orphanet ORPHA85 25 May 2016 2623 GATA1 C0969687 Autosomal chromosomal disorder NCBI curation 16 Feb 2016 2623 GATA1 C0008626 Congenital chromosomal disease NCBI curation 16 Feb 2016 2626 GATA4 C0018817 Atrial septal defect Human Phenotype Ontology HP:0001631 16 Feb 2016 2626 GATA4 C0018817 Atrial septal defect OMIM phenotypic series PS108800 16 Feb 2016 2628 GATM CN227588 Cerebral creatine deficiency syndrome OMIM phenotypic series PS300352 16 Feb 2016 2629 GBA CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 2629 GBA C0017205 Gaucher disease 16 Feb 2016 2629 GBA C0017205 Gaucher disease 16 Feb 2016 2629 GBA C0017205 Gaucher disease 16 Feb 2016 2629 GBA C0017205 Gaucher disease 16 Feb 2016 2629 GBA C0017205 Gaucher disease 16 Feb 2016 2629 GBA C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 2632 GBE1 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 2639 GCDH C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 2645 GCK C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 2645 GCK C3888018 Familial hyperinsulinism NCBI curation 16 Feb 2016 54332 GDAP1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 54332 GDAP1 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 54332 GDAP1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 54332 GDAP1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 2657 GDF1 C0040761 Transposition of the great arteries 16 Feb 2016 2658 GDF2 C0039445 Hereditary hemorrhagic telangiectasia NCBI curation 26 Jul 2018 9573 GDF3 C0022738 Klippel Feil syndrome 16 Feb 2016 392255 GDF6 C0022738 Klippel Feil syndrome 16 Feb 2016 2668 GDNF C0019569 Hirschsprung disease OMIM phenotypic series PS142623 13 Jan 2017 2668 GDNF C0019569 Hirschsprung disease Orphanet ORPHA388 13 Jan 2017 2672 GFI1 C1853118 Severe congenital neutropenia Orphanet ORPHA42738 16 Feb 2016 85476 GFM1 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 2673 GFPT1 C0751882 Congenital myasthenic syndrome NCBI curation 16 Feb 2016 2688 GH1 C1859806 Amyotrophic lateral sclerosis, juvenile, with dementia NCBI curation 205200 16 Feb 2016 2688 GH1 C0342381 Idiopathic growth hormone deficiency NCBI curation 16 Feb 2016 2688 GH1 C0342381 Idiopathic growth hormone deficiency NCBI curation 16 Feb 2016 2690 GHR C0020445 Familial hypercholesterolemia 15 Jan 2020 2690 GHR C0020476 Hyperlipoproteinemia Human Phenotype Ontology HP:0010980 16 Feb 2016 26058 GIGYF2 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 126326 GIPC3 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 126326 GIPC3 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 126326 GIPC3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2702 GJA5 C0004238 Atrial fibrillation Human Phenotype Ontology HP:0005110 06 Jul 2018 2702 GJA5 C0541782 Atrial standstill Human Phenotype Ontology HP:0025478 04 Apr 2018 2705 GJB1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 2705 GJB1 CN118851 Charcot-Marie-Tooth Neuropathy X 16 Feb 2016 2706 GJB2 Deafness, autosomal dominant nonsyndromic sensorineural 3 16 Feb 2016 2706 GJB2 CN043589 DFNA 3 Nonsyndromic Hearing Loss and Deafness NCBI curation 16 Feb 2016 2706 GJB2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2706 GJB2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2706 GJB2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2706 GJB2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2706 GJB2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2706 GJB2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2706 GJB2 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 2706 GJB2 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 2707 GJB3 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 2707 GJB3 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2707 GJB3 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2707 GJB3 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 2707 GJB3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 2707 GJB3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10804 GJB6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10804 GJB6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10804 GJB6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10804 GJB6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10804 GJB6 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 10804 GJB6 CN043589 DFNA 3 Nonsyndromic Hearing Loss and Deafness NCBI curation 16 Feb 2016 10804 GJB6 Deafness, autosomal dominant nonsyndromic sensorineural 3 16 Feb 2016 10804 GJB6 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 10804 GJB6 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 10804 GJB6 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 10804 GJB6 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 10804 GJB6 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 10804 GJB6 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 2720 GLB1 C0026707 Morquio syndrome NCBI curation 21 Jun 2017 2720 GLB1 C0085131 GM1 gangliosidosis NCBI curation 26 Dec 2016 2720 GLB1 C0085131 GM1 gangliosidosis NCBI curation 26 Dec 2016 2720 GLB1 C0085131 GM1 gangliosidosis NCBI curation 26 Dec 2016 2736 GLI2 C0079541 Holoprosencephaly sequence NCBI curation 16 Feb 2016 84662 GLIS2 C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 16 Feb 2016 84662 GLIS2 C0687120 Nephronophthisis OMIM phenotypic series PS256100 16 Feb 2016 2741 GLRA1 C0234166 Hyperekplexia OMIM phenotypic series PS149400 16 Feb 2016 2741 GLRA1 C0234166 Hyperekplexia GeneReviews NBK1260 16 Feb 2016 2743 GLRB C0234166 Hyperekplexia GeneReviews NBK1260 16 Feb 2016 2743 GLRB C0234166 Hyperekplexia OMIM phenotypic series PS149400 16 Feb 2016 2746 GLUD1 C3888018 Familial hyperinsulinism NCBI curation 16 Feb 2016 2747 GLUD2 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 29925 GMPPB C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 29925 GMPPB C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 2773 GNAI3 C1865295 Auriculocondylar syndrome OMIM phenotypic series PS602483 16 Feb 2016 2780 GNAT2 C0152200 Achromatopsia Human Phenotype Ontology HP:0011516 16 Feb 2016 59345 GNB4 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 8443 GNPAT C0282529 Rhizomelic chondrodysplasia punctata OMIM phenotypic series PS215100 16 Feb 2016 8443 GNPAT CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 2799 GNS C0026706 Sanfilippo syndrome NCBI curation 16 Feb 2016 2719 GPC3 C0027708 Nephroblastoma Human Phenotype Ontology HP:0002667 16 Feb 2016 2239 GPC4 C0027708 Nephroblastoma Human Phenotype Ontology HP:0002667 16 Feb 2016 23171 GPD1L C1142166 Brugada syndrome OMIM phenotypic series PS601144 16 Feb 2016 10243 GPHN C0268119 Combined molybdoflavoprotein enzyme deficiency 16 Feb 2016 10243 GPHN C0234166 Hyperekplexia GeneReviews NBK1260 16 Feb 2016 10243 GPHN C0234166 Hyperekplexia OMIM phenotypic series PS149400 16 Feb 2016 338328 GPIHBP1 CN231410 Familial chylomicronemia syndrome Orphanet ORPHA444490 13 Aug 2016 29899 GPSM2 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 29899 GPSM2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 29899 GPSM2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 79977 GRHL2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 79977 GRHL2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 79977 GRHL2 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 9380 GRHPR C0020501 Primary hyperoxaluria NCBI curation 16 Feb 2016 2903 GRIN2A CN417132 Rolandic epilepsy Orphanet ORPHA1945 25 Aug 2017 2916 GRM6 C0339535 Congenital stationary night blindness Human Phenotype Ontology HP:0007642 16 Feb 2016 389207 GRXCR1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 389207 GRXCR1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 389207 GRXCR1 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 1687 GSDME CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 1687 GSDME CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 1687 GSDME C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 84705 GTPBP3 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 2979 GUCA1B C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 3000 GUCY2D C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 2992 GYG1 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 2992 GYG1 CN228160 Polyglucosan body myopathy OMIM phenotypic series PS615895 16 Feb 2016 283120 H19 C0027708 Nephroblastoma Human Phenotype Ontology HP:0002667 16 Feb 2016 105259599 H19-ICR C0027708 Nephroblastoma Human Phenotype Ontology HP:0002667 16 Feb 2016 3033 HADH C3888018 Familial hyperinsulinism NCBI curation 16 Feb 2016 3030 HADHA C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 3032 HADHB C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 57817 HAMP C0392514 Hereditary hemochromatosis NCBI curation 16 Feb 2016 57817 HAMP C0268060 Juvenile hemochromatosis NCBI curation 16 Feb 2016 23438 HARS2 C0685838 Perrault syndrome Orphanet ORPHA2855 06 Apr 2018 23438 HARS2 C0685838 Perrault syndrome OMIM phenotypic series PS233400 06 Apr 2018 10456 HAX1 C1853118 Severe congenital neutropenia Orphanet ORPHA42738 16 Feb 2016 3039 HBA1 C0019045 Hemoglobinopathy NCBI curation 16 Feb 2016 3039 HBA1 C0019045 Hemoglobinopathy NCBI curation 16 Feb 2016 3039 HBA1 C0039730 Thalassemia NCBI curation 16 Feb 2016 3039 HBA1 C0039730 Thalassemia NCBI curation 16 Feb 2016 3040 HBA2 C0039730 Thalassemia NCBI curation 16 Feb 2016 3040 HBA2 C0039730 Thalassemia NCBI curation 16 Feb 2016 3040 HBA2 C0019045 Hemoglobinopathy NCBI curation 16 Feb 2016 3040 HBA2 C0019045 Hemoglobinopathy NCBI curation 16 Feb 2016 3043 HBB C0019045 Hemoglobinopathy NCBI curation 16 Feb 2016 3043 HBB C0019045 Hemoglobinopathy NCBI curation 16 Feb 2016 3043 HBB C0019045 Hemoglobinopathy NCBI curation 16 Feb 2016 3043 HBB C0039730 Thalassemia NCBI curation 16 Feb 2016 3043 HBB C0039730 Thalassemia NCBI curation 16 Feb 2016 109580095 HBB-LCR C0039730 Thalassemia NCBI curation 16 Feb 2016 109580095 HBB-LCR C0019045 Hemoglobinopathy NCBI curation 16 Feb 2016 10021 HCN4 C1142166 Brugada syndrome OMIM phenotypic series PS601144 16 Feb 2016 84667 HES7 CN043670 Autosomal recessive spondylocostal dysostosis Orphanet ORPHA2311 16 Feb 2016 3073 HEXA CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 3077 HFE C0392514 Hereditary hemochromatosis NCBI curation 16 Feb 2016 3077 HFE CN357508 Microvascular complications of diabetes OMIM phenotypic series PS603933 31 Jul 2017 3082 HGF CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 3082 HGF CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 3082 HGF C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 138050 HGSNAT C0026706 Sanfilippo syndrome NCBI curation 16 Feb 2016 148738 HJV C0392514 Hereditary hemochromatosis NCBI curation 16 Feb 2016 148738 HJV C0268060 Juvenile hemochromatosis NCBI curation 16 Feb 2016 3098 HK1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 3098 HK1 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 3119 HLA-DQB1 C0162534 Genetic prion diseases NCBI curation 16 Feb 2016 3141 HLCS CN043572 Biotin-Responsive Multiple Carboxylase Deficiencies 16 Feb 2016 83872 HMCN1 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 3155 HMGCL C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 3161 HMMR C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 9987 HNRNPDL CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 9987 HNRNPDL C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 9987 HNRNPDL C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 112817 HOGA1 C0020501 Primary hyperoxaluria NCBI curation 16 Feb 2016 3257 HPS1 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 84343 HPS3 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 89781 HPS4 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 11234 HPS5 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 79803 HPS6 C0079504 Hermansky-Pudlak syndrome OMIM phenotypic series PS203300 16 Feb 2016 55806 HR C0002170 Alopecia Human Phenotype Ontology HP:0001596 16 Feb 2016 3265 HRAS C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 3265 HRAS CN166718 Rasopathy NCBI curation 16 Feb 2016 3295 HSD17B4 C0685838 Perrault syndrome Orphanet ORPHA2855 06 Apr 2018 3295 HSD17B4 C0685838 Perrault syndrome OMIM phenotypic series PS233400 06 Apr 2018 3284 HSD3B2 C0014130 Disorder of endocrine system NCBI curation 16 Feb 2016 3284 HSD3B2 C0001627 Congenital adrenal hyperplasia Human Phenotype Ontology HP:0008258 16 Feb 2016 3315 HSPB1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 3315 HSPB1 CN169884 Distal hereditary motor neuronopathy NCBI curation 16 Feb 2016 3315 HSPB1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 26353 HSPB8 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 26353 HSPB8 CN169884 Distal hereditary motor neuronopathy NCBI curation 16 Feb 2016 26353 HSPB8 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 5654 HTRA1 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 27429 HTRA2 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 54768 HYDIN C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 57061 HYMAI C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 57061 HYMAI C0342273 Transitory neonatal diabetes mellitus NCBI curation 16 Feb 2016 3417 IDH1 C0017638 Glioma OMIM phenotypic series PS137800 16 Feb 2016 3417 IDH1 C0017638 Glioma Human Phenotype Ontology HP:0009733 16 Feb 2016 3420 IDH3B C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 3425 IDUA C0023786 Mucopolysaccharidosis type 1 MONDO MONDO:0001586 17 Apr 2020 3425 IDUA C0023786 Mucopolysaccharidosis type 1 MONDO MONDO:0001586 17 Apr 2020 3425 IDUA C0023786 Mucopolysaccharidosis type 1 MONDO MONDO:0001586 17 Apr 2020 387733 IFITM5 C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 16 Feb 2016 3458 IFNG C0041341 Tuberous sclerosis syndrome NCBI curation 16 Feb 2016 282617 IFNL3 C2750389 Hepatitis C virus infection, response to therapy of NCBI curation 16 Feb 2016 282617 IFNL3 C2750389 Hepatitis C virus infection, response to therapy of NCBI curation 16 Feb 2016 282617 IFNL3 C2750389 Hepatitis C virus infection, response to therapy of NCBI curation 16 Feb 2016 55764 IFT122 CN119432 Cranioectodermal dysplasia OMIM phenotypic series PS218330 16 Feb 2016 112752 IFT43 CN119432 Cranioectodermal dysplasia OMIM phenotypic series PS218330 16 Feb 2016 57560 IFT80 C0265275 Jeune thoracic dystrophy 16 Feb 2016 3481 IGF2 C0027708 Nephroblastoma Human Phenotype Ontology HP:0002667 16 Feb 2016 3508 IGHMBP2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 3508 IGHMBP2 CN169884 Distal hereditary motor neuronopathy NCBI curation 16 Feb 2016 3557 IL1RN CN357508 Microvascular complications of diabetes OMIM phenotypic series PS603933 31 Jul 2017 3561 IL2RG C0085110 Severe combined immunodeficiency disease 16 Feb 2016 286676 ILDR1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 286676 ILDR1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 286676 ILDR1 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 3614 IMPDH1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 3614 IMPDH1 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 50939 IMPG2 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 64423 INF2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 64423 INF2 C0017668 Focal segmental glomerulosclerosis OMIM phenotypic series PS603278 16 Feb 2016 64423 INF2 C0017668 Focal segmental glomerulosclerosis Human Phenotype Ontology HP:0000097 16 Feb 2016 64423 INF2 CN043612 Hereditary Nephrotic Syndromes, Autosomal Dominant 16 Feb 2016 64423 INF2 C1868672 Hereditary nephrotic syndrome NCBI curation 17 Aug 2016 56623 INPP5E C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 3630 INS C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 3643 INSR C3888018 Familial hyperinsulinism NCBI curation 16 Feb 2016 27130 INVS C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 16 Feb 2016 27130 INVS C0687120 Nephronophthisis OMIM phenotypic series PS256100 16 Feb 2016 9657 IQCB1 C0403553 Renal dysplasia and retinal aplasia NCBI curation 16 Feb 2016 3659 IRF1 C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 3663 IRF5 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 16 Feb 2016 3664 IRF6 C3266076 Orofacial cleft OMIM phenotypic series PS119530 16 Feb 2016 3679 ITGA7 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 3691 ITGB4 C0079298 Epidermolysis bullosa simplex 16 Feb 2016 3691 ITGB4 C0079301 Junctional epidermolysis bullosa MONDO MONDO:0017612 22 Apr 2020 3712 IVD C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 389434 IYD C0010308 Congenital hypothyroidism Human Phenotype Ontology HP:0000851 16 Feb 2016 182 JAG1 C0085280 Arteriohepatic dysplasia NCBI curation 16 Feb 2016 84522 JAGN1 C1853118 Severe congenital neutropenia Orphanet ORPHA42738 16 Feb 2016 3717 JAK2 C0152264 Familial erythrocytosis NCBI curation 16 Feb 2016 56704 JPH1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 56704 JPH1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 57158 JPH2 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 57158 JPH2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 3728 JUP C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 3728 JUP C0349788 Arrhythmogenic right ventricular cardiomyopathy NCBI curation 16 Feb 2016 3735 KARS1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 3735 KARS1 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 3735 KARS1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 390594 KBTBD13 C0206157 Nemaline myopathy OMIM phenotypic series PS161800 16 Feb 2016 3736 KCNA1 C1720189 Episodic ataxia Human Phenotype Ontology HP:0002131 16 Feb 2016 3736 KCNA1 C1720189 Episodic ataxia OMIM phenotypic series PS160120 16 Feb 2016 3741 KCNA5 C0004238 Atrial fibrillation Human Phenotype Ontology HP:0005110 06 Jul 2018 3753 KCNE1 C4551509 Jervell and Lange-Nielsen syndrome 1 NCBI curation 220400 16 Feb 2016 3753 KCNE1 C4551509 Jervell and Lange-Nielsen syndrome 1 NCBI curation 220400 16 Feb 2016 3753 KCNE1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 3753 KCNE1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 3753 KCNE1 C0035828 Romano-Ward syndrome 16 Feb 2016 9992 KCNE2 C0035828 Romano-Ward syndrome 16 Feb 2016 9992 KCNE2 C0004238 Atrial fibrillation Human Phenotype Ontology HP:0005110 06 Jul 2018 10008 KCNE3 C1142166 Brugada syndrome OMIM phenotypic series PS601144 16 Feb 2016 3757 KCNH2 C0035828 Romano-Ward syndrome 16 Feb 2016 3757 KCNH2 C2348199 short QT syndrome NCBI curation 16 Feb 2016 3758 KCNJ1 CN239220 Antenatal Bartter Syndrome NCBI curation 02 Dec 2016 3758 KCNJ1 C0004775 Bartter syndrome OMIM phenotypic series PS601678 10 Sep 2018 3766 KCNJ10 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 3766 KCNJ10 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 3766 KCNJ10 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 3767 KCNJ11 C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 3767 KCNJ11 C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 3767 KCNJ11 C3888018 Familial hyperinsulinism NCBI curation 16 Feb 2016 3769 KCNJ13 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 3759 KCNJ2 C0004238 Atrial fibrillation Human Phenotype Ontology HP:0005110 06 Jul 2018 3759 KCNJ2 C2348199 short QT syndrome NCBI curation 16 Feb 2016 3762 KCNJ5 C3713420 Familial hyperaldosteronism Orphanet ORPHA235936 16 Feb 2016 3762 KCNJ5 C0035828 Romano-Ward syndrome 16 Feb 2016 3777 KCNK3 C4552070 Primary pulmonary hypertension 178600 16 Feb 2016 3784 KCNQ1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 3784 KCNQ1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 3784 KCNQ1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 3784 KCNQ1 C0035828 Romano-Ward syndrome 16 Feb 2016 3784 KCNQ1 C0035828 Romano-Ward syndrome 16 Feb 2016 3784 KCNQ1 C0004238 Atrial fibrillation Human Phenotype Ontology HP:0005110 06 Jul 2018 3784 KCNQ1 C2348199 short QT syndrome NCBI curation 16 Feb 2016 3785 KCNQ2 CN230162 Benign familial neonatal seizures Orphanet ORPHA1949 16 Feb 2016 3786 KCNQ3 CN230162 Benign familial neonatal seizures Orphanet ORPHA1949 16 Feb 2016 9132 KCNQ4 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 9132 KCNQ4 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 9132 KCNQ4 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 547 KIF1A C0020072 Hereditary sensory and autonomic neuropathy type II GeneReviews NBK49247 16 Feb 2016 547 KIF1A C0020072 Hereditary sensory and autonomic neuropathy type II GeneReviews NBK49247 16 Feb 2016 23095 KIF1B C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 23095 KIF1B C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 23095 KIF1B C2079538 Charcot-Marie-Tooth disease, type 2A NCBI curation 16 Feb 2016 55605 KIF21A CN043677 Congenital fibrosis of the extraocular muscles NCBI curation 16 Feb 2016 374654 KIF7 C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 84634 KISS1R C0034013 Precocious puberty Human Phenotype Ontology HP:0000826 16 Feb 2016 3815 KIT C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 55857 KIZ C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 10661 KLF1 C0002876 Congenital dyserythropoietic anemia Orphanet ORPHA85 25 May 2016 1316 KLF6 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 26249 KLHL3 C1840389 Pseudohypoaldosteronism type 2A NCBI curation 145260 15 Jan 2020 131377 KLHL40 C0206157 Nemaline myopathy OMIM phenotypic series PS161800 16 Feb 2016 55975 KLHL7 C1832409 Cold-induced sweating syndrome OMIM phenotypic series PS272430 16 Feb 2016 55975 KLHL7 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 57082 KNL1 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 3845 KRAS C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 3845 KRAS C0028326 Noonan syndrome OMIM phenotypic series PS163950 16 Feb 2016 3845 KRAS C1328840 Autoimmune lymphoproliferative syndrome 601859 16 Feb 2016 3845 KRAS C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 3845 KRAS C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 3845 KRAS CN166718 Rasopathy NCBI curation 16 Feb 2016 3859 KRT12 C0339277 Meesmann corneal dystrophy NCBI curation 08 Feb 2020 3861 KRT14 C0079298 Epidermolysis bullosa simplex 16 Feb 2016 3861 KRT14 C0079298 Epidermolysis bullosa simplex 16 Feb 2016 3861 KRT14 C0079298 Epidermolysis bullosa simplex 16 Feb 2016 3868 KRT16 C0265334 Pachyonychia congenita syndrome NCBI curation 16 Feb 2016 3872 KRT17 C0265334 Pachyonychia congenita syndrome NCBI curation 16 Feb 2016 3850 KRT3 C0339277 Meesmann corneal dystrophy NCBI curation 08 Feb 2020 3852 KRT5 C0079298 Epidermolysis bullosa simplex 16 Feb 2016 3852 KRT5 C0079298 Epidermolysis bullosa simplex 16 Feb 2016 3852 KRT5 C0079298 Epidermolysis bullosa simplex 16 Feb 2016 3852 KRT5 C0079298 Epidermolysis bullosa simplex 16 Feb 2016 3853 KRT6A C0265334 Pachyonychia congenita syndrome NCBI curation 16 Feb 2016 3854 KRT6B C0265334 Pachyonychia congenita syndrome NCBI curation 16 Feb 2016 121391 KRT74 C0343073 Wooly hair NCBI curation 16 Feb 2016 3897 L1CAM CN118845 L1 syndrome NCBI curation 19 Jul 2018 3897 L1CAM CN118845 L1 syndrome NCBI curation 19 Jul 2018 8270 LAGE3 C0795949 Galloway-Mowat syndrome OMIM phenotypic series PS251300 24 Jul 2018 3908 LAMA2 CN117977 Laminin alpha 2-related dystrophy NCBI curation 16 Feb 2016 3908 LAMA2 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 3909 LAMA3 C0079301 Junctional epidermolysis bullosa MONDO MONDO:0017612 22 Apr 2020 3909 LAMA3 C0079301 Junctional epidermolysis bullosa MONDO MONDO:0017612 22 Apr 2020 3910 LAMA4 C0007193 Primary dilated cardiomyopathy NCBI curation 16 Feb 2016 3910 LAMA4 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 3910 LAMA4 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 3912 LAMB1 C0266463 Lissencephaly Human Phenotype Ontology HP:0001339 16 Feb 2016 3912 LAMB1 C1955869 Malformation of cortical development NCBI curation 16 Feb 2016 3912 LAMB1 C0266463 Lissencephaly OMIM phenotypic series PS607432 16 Feb 2016 3914 LAMB3 C0079301 Junctional epidermolysis bullosa MONDO MONDO:0017612 22 Apr 2020 3914 LAMB3 C0079301 Junctional epidermolysis bullosa MONDO MONDO:0017612 22 Apr 2020 3918 LAMC2 C0079301 Junctional epidermolysis bullosa MONDO MONDO:0017612 22 Apr 2020 3918 LAMC2 C0079301 Junctional epidermolysis bullosa MONDO MONDO:0017612 22 Apr 2020 9215 LARGE1 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 9215 LARGE1 C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 51520 LARS1 CN228161 Infantile liver failure syndrome OMIM phenotypic series PS615438 16 Feb 2016 23395 LARS2 C0685838 Perrault syndrome OMIM phenotypic series PS233400 06 Apr 2018 23395 LARS2 C0685838 Perrault syndrome Orphanet ORPHA2855 06 Apr 2018 167691 LCA5 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 11155 LDB3 C2678065 Myofibrillar myopathy Human Phenotype Ontology HP:0003715 16 Feb 2016 11155 LDB3 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 11155 LDB3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 11155 LDB3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 3939 LDHA C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 3949 LDLR C0020445 Familial hypercholesterolemia 15 Jan 2020 3949 LDLR C0020476 Hyperlipoproteinemia Human Phenotype Ontology HP:0010980 16 Feb 2016 26119 LDLRAP1 C0020445 Familial hypercholesterolemia 15 Jan 2020 3952 LEP CN043636 Monogenic Non-Syndromic Obesity, Autosomal Recessive 16 Feb 2016 3953 LEPR CN043636 Monogenic Non-Syndromic Obesity, Autosomal Recessive 16 Feb 2016 3955 LFNG CN043670 Autosomal recessive spondylocostal dysostosis Orphanet ORPHA2311 16 Feb 2016 3973 LHCGR C0034013 Precocious puberty Human Phenotype Ontology HP:0000826 16 Feb 2016 222662 LHFPL5 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 222662 LHFPL5 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 222662 LHFPL5 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 8022 LHX3 CN078207 Pituitary hormone deficiency, combined OMIM phenotypic series PS613038 16 Feb 2016 89884 LHX4 CN078207 Pituitary hormone deficiency, combined OMIM phenotypic series PS613038 16 Feb 2016 3991 LIPE C0271694 Familial partial lipodystrophy NCBI curation 16 Feb 2016 643418 LIPN C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 9516 LITAF C0751036 Charcot-Marie-Tooth disease, type I NCBI curation 16 Feb 2016 9516 LITAF C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 55788 LMBRD1 CN043592 Disorders of Intracellular Cobalamin Metabolism 16 Feb 2016 4000 LMNA C0410189 Emery-Dreifuss muscular dystrophy OMIM phenotypic series PS310300 16 Feb 2016 4000 LMNA C0271694 Familial partial lipodystrophy NCBI curation 16 Feb 2016 4000 LMNA C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 4000 LMNA C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4000 LMNA C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4009 LMX1A CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 4009 LMX1A CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4009 LMX1A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4015 LOX C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 27 Apr 2020 4015 LOX C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 27 Apr 2020 125336 LOXHD1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 125336 LOXHD1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 125336 LOXHD1 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 10161 LPAR6 C0343073 Wooly hair NCBI curation 16 Feb 2016 4023 LPL C0020476 Hyperlipoproteinemia Human Phenotype Ontology HP:0010980 16 Feb 2016 4023 LPL CN231410 Familial chylomicronemia syndrome Orphanet ORPHA444490 13 Aug 2016 9227 LRAT C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 83938 LRMDA C0078918 Oculocutaneous albinism OMIM phenotypic series PS203100 16 Feb 2016 4038 LRP4 C0265301 Sclerosteosis OMIM phenotypic series PS269500 27 Oct 2017 4041 LRP5 C4272579 Osteopetrosis, autosomal dominant OMIM phenotypic series PS607634 26 Nov 2017 4041 LRP5 CN118824 Familial exudative vitreoretinopathy, autosomal dominant NCBI curation 16 Feb 2016 4041 LRP5 CN118824 Familial exudative vitreoretinopathy, autosomal dominant NCBI curation 16 Feb 2016 10128 LRPPRC C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10128 LRPPRC C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 10128 LRPPRC C0023264 Leigh syndrome Orphanet ORPHA506 256000 16 Feb 2016 23639 LRRC6 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 120892 LRRK2 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 90678 LRSAM1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 90678 LRSAM1 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 220074 LRTOMT C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 220074 LRTOMT CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 220074 LRTOMT CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 4053 LTBP2 C0265313 Weill-Marchesani syndrome OMIM phenotypic series PS277600 16 Feb 2016 57128 LYRM4 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 8379 MAD1L1 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 10916 MAGED2 C0004775 Bartter syndrome OMIM phenotypic series PS601678 10 Sep 2018 10916 MAGED2 CN239220 Antenatal Bartter Syndrome NCBI curation 02 Dec 2016 4117 MAK C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 5604 MAP2K1 CN166718 Rasopathy NCBI curation 16 Feb 2016 5604 MAP2K1 CN166718 Rasopathy NCBI curation 16 Feb 2016 4214 MAP3K1 C2936694 Pure gonadal dysgenesis 46,XY NCBI curation 16 Feb 2016 1326 MAP3K8 C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 4137 MAPT C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 4141 MARS1 CN228161 Infantile liver failure syndrome OMIM phenotypic series PS615438 16 Feb 2016 4141 MARS1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 92935 MARS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 153562 MARVELD2 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 153562 MARVELD2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 153562 MARVELD2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4157 MC1R C0151779 Malignant melanoma of skin NCBI curation 16 Feb 2016 4157 MC1R C0078918 Oculocutaneous albinism OMIM phenotypic series PS203100 16 Feb 2016 4157 MC1R C1512419 Hereditary cutaneous melanoma NCBI curation 16 Feb 2016 4157 MC1R C0025202 Cutaneous melanoma Human Phenotype Ontology HP:0012056 10 May 2018 56922 MCCC1 C4551505 Methylcrotonyl-CoA carboxylase deficiency NCBI curation 16 Feb 2016 56922 MCCC1 C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 64087 MCCC2 C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 64087 MCCC2 C4551505 Methylcrotonyl-CoA carboxylase deficiency NCBI curation 16 Feb 2016 84693 MCEE C0268583 Methylmalonic acidemia Human Phenotype Ontology HP:0002912 16 Feb 2016 84693 MCEE C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 57192 MCOLN1 CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 79648 MCPH1 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 4204 MECP2 C1510586 Autism spectrum disorder MONDO MONDO:0005258 06 Jul 2018 23389 MED13L C0040761 Transposition of the great arteries 16 Feb 2016 4222 MEOX1 C0022738 Klippel Feil syndrome 16 Feb 2016 10461 MERTK C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 145873 MESP2 CN043670 Autosomal recessive spondylocostal dysostosis Orphanet ORPHA2311 16 Feb 2016 145873 MESP2 CN043670 Autosomal recessive spondylocostal dysostosis Orphanet ORPHA2311 16 Feb 2016 4233 MET C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 8076 MFAP5 C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 27 Apr 2020 8076 MFAP5 C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 27 Apr 2020 9927 MFN2 C2079538 Charcot-Marie-Tooth disease, type 2A NCBI curation 16 Feb 2016 9927 MFN2 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 9927 MFN2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 84879 MFSD2A C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 256471 MFSD8 C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 4247 MGAT2 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 92667 MGME1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 92667 MGME1 CN043632 Mitochondrial DNA Deletion Syndromes 16 Feb 2016 92667 MGME1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 125988 MICOS13 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 4285 MIPEP CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 407053 MIR96 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 407053 MIR96 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 407053 MIR96 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4286 MITF C0025202 Cutaneous melanoma Human Phenotype Ontology HP:0012056 10 May 2018 4286 MITF C1512419 Hereditary cutaneous melanoma NCBI curation 16 Feb 2016 4286 MITF C0151779 Malignant melanoma of skin NCBI curation 16 Feb 2016 4286 MITF C2700265 Waardenburg syndrome type 2 16 Feb 2016 4286 MITF C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 54903 MKS1 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 54903 MKS1 C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 4292 MLH1 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4292 MLH1 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4292 MLH1 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4292 MLH1 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4292 MLH1 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4292 MLH1 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4292 MLH1 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4292 MLH1 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4292 MLH1 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4292 MLH1 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4292 MLH1 C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 16 Feb 2016 4292 MLH1 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 4292 MLH1 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 4292 MLH1 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 27030 MLH3 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 27030 MLH3 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 27030 MLH3 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 166785 MMAA C0268583 Methylmalonic acidemia Human Phenotype Ontology HP:0002912 16 Feb 2016 166785 MMAA C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 326625 MMAB C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 326625 MMAB C0268583 Methylmalonic acidemia Human Phenotype Ontology HP:0002912 16 Feb 2016 25974 MMACHC CN043592 Disorders of Intracellular Cobalamin Metabolism 16 Feb 2016 25974 MMACHC C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 27249 MMADHC C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 27249 MMADHC CN043592 Disorders of Intracellular Cobalamin Metabolism 16 Feb 2016 27249 MMADHC C0268583 Methylmalonic acidemia Human Phenotype Ontology HP:0002912 16 Feb 2016 4311 MME C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 4594 MMUT C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 4594 MMUT C0268583 Methylmalonic acidemia Human Phenotype Ontology HP:0002912 16 Feb 2016 55034 MOCOS CN257747 Hereditary xanthinuria Orphanet ORPHA3467 29 Oct 2018 4337 MOCS1 C0268119 Combined molybdoflavoprotein enzyme deficiency 16 Feb 2016 4338 MOCS2 C0268119 Combined molybdoflavoprotein enzyme deficiency 16 Feb 2016 7841 MOGS C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 9526 MPDU1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 8777 MPDZ C0020255 Hydrocephalus Human Phenotype Ontology HP:0000238 16 Feb 2016 8777 MPDZ C0020256 Congenital hydrocephalus Orphanet ORPHA2185 27 Sep 2018 4351 MPI C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 4358 MPV17 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4358 MPV17 CN043632 Mitochondrial DNA Deletion Syndromes 16 Feb 2016 4358 MPV17 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 4358 MPV17 CN069134 Mitochondrial DNA depletion syndrome, hepatocerebral form NCBI curation 16 Feb 2016 4359 MPZ C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 4359 MPZ C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 4359 MPZ C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 4359 MPZ C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 4359 MPZ C0393818 Congenital hypomyelinating neuropathy NCBI curation 01 Dec 2018 4359 MPZ C0751036 Charcot-Marie-Tooth disease, type I NCBI curation 16 Feb 2016 4359 MPZ C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 4359 MPZ C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 4359 MPZ C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 11222 MRPL3 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 65080 MRPL44 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 51021 MRPS16 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 51116 MRPS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 56945 MRPS22 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 65993 MRPS34 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 51081 MRPS7 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 4436 MSH2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4436 MSH2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4436 MSH2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4436 MSH2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4436 MSH2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4436 MSH2 C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 16 Feb 2016 4436 MSH2 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 4436 MSH2 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 4436 MSH2 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 4436 MSH2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4436 MSH2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4436 MSH2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4436 MSH2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4436 MSH2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 2956 MSH6 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 2956 MSH6 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 2956 MSH6 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 2956 MSH6 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 2956 MSH6 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 2956 MSH6 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 2956 MSH6 C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 16 Feb 2016 2956 MSH6 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 2956 MSH6 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 2956 MSH6 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 2956 MSH6 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 253827 MSRB3 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 253827 MSRB3 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 253827 MSRB3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4487 MSX1 C3266076 Orofacial cleft OMIM phenotypic series PS119530 16 Feb 2016 4488 MSX2 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 4488 MSX2 C1868598 Enlarged parietal foramina Orphanet ORPHA60015 08 Oct 2018 4508 MT-ATP6 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4508 MT-ATP6 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 4508 MT-ATP6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4512 MT-CO1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 4512 MT-CO1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4514 MT-CO3 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4535 MT-ND1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4535 MT-ND1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4536 MT-ND2 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4537 MT-ND3 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4538 MT-ND4 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4538 MT-ND4 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4540 MT-ND5 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4540 MT-ND5 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4541 MT-ND6 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4541 MT-ND6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4549 MT-RNR1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 4549 MT-RNR1 CN184091 Aminoglycoside response NCBI curation 16 Feb 2016 4549 MT-RNR1 CN184091 Aminoglycoside response NCBI curation 16 Feb 2016 4549 MT-RNR1 CN184091 Aminoglycoside response NCBI curation 16 Feb 2016 4549 MT-RNR1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4553 MT-TA C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4511 MT-TC C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4555 MT-TD C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4558 MT-TF C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4564 MT-TH C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4565 MT-TI C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4566 MT-TK C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4566 MT-TK C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4567 MT-TL1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4567 MT-TL1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4568 MT-TL2 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4568 MT-TL2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4569 MT-TM C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4570 MT-TN C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4570 MT-TN C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 4572 MT-TQ C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4573 MT-TR C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4574 MT-TS1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4575 MT-TS2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4576 MT-TT C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4576 MT-TT C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 4577 MT-TV C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4577 MT-TV C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4578 MT-TW C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4578 MT-TW C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4579 MT-TY C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 123263 MTFMT CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 4534 MTM1 C0175709 Centronuclear myopathy MONDO MONDO:0018947 07 Jun 2020 64419 MTMR14 C0175709 Centronuclear myopathy MONDO MONDO:0018947 07 Jun 2020 8898 MTMR2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 8898 MTMR2 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 25821 MTO1 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 4548 MTR CN043592 Disorders of Intracellular Cobalamin Metabolism 16 Feb 2016 4552 MTRR CN043592 Disorders of Intracellular Cobalamin Metabolism 16 Feb 2016 4595 MUTYH CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4595 MUTYH C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4601 MXI1 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 4604 MYBPC1 C0265213 Distal arthrogryposis Human Phenotype Ontology HP:0005684 16 Feb 2016 4604 MYBPC1 C1852085 Digitotalar dysmorphism NCBI curation 126050 05 Nov 2018 4607 MYBPC3 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 4607 MYBPC3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4607 MYBPC3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4629 MYH11 C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 27 Apr 2020 4629 MYH11 C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 27 Apr 2020 79784 MYH14 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 79784 MYH14 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 79784 MYH14 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 4621 MYH3 C0265213 Distal arthrogryposis Human Phenotype Ontology HP:0005684 16 Feb 2016 4624 MYH6 CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 4624 MYH6 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 4624 MYH6 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 4624 MYH6 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 4624 MYH6 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 4624 MYH6 CN043575 Caveolinopathy Orphanet ORPHA207078 06 Mar 2016 4624 MYH6 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 4624 MYH6 C0018817 Atrial septal defect OMIM phenotypic series PS108800 16 Feb 2016 4624 MYH6 C0018817 Atrial septal defect Human Phenotype Ontology HP:0001631 16 Feb 2016 4624 MYH6 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4624 MYH6 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4624 MYH6 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4624 MYH6 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4625 MYH7 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4625 MYH7 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4625 MYH7 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 4625 MYH7 CN253826 Hyaline body myopathy NCBI curation 12 Sep 2018 4625 MYH7 CN253826 Hyaline body myopathy NCBI curation 12 Sep 2018 4625 MYH7 CN043575 Caveolinopathy Orphanet ORPHA207078 06 Mar 2016 4625 MYH7 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 4625 MYH7 C0007193 Primary dilated cardiomyopathy NCBI curation 16 Feb 2016 4625 MYH7 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 4625 MYH7 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 4625 MYH7 CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 4626 MYH8 C0265213 Distal arthrogryposis Human Phenotype Ontology HP:0005684 16 Feb 2016 4627 MYH9 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4627 MYH9 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4627 MYH9 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 4633 MYL2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4633 MYL2 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 4634 MYL3 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 4634 MYL3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4638 MYLK C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 27 Apr 2020 4638 MYLK C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 27 Apr 2020 85366 MYLK2 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 85366 MYLK2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 85366 MYLK2 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 85366 MYLK2 CN043575 Caveolinopathy Orphanet ORPHA207078 06 Mar 2016 85366 MYLK2 CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 85366 MYLK2 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 51168 MYO15A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 51168 MYO15A CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 51168 MYO15A CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 53904 MYO3A CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 53904 MYO3A CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 53904 MYO3A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4646 MYO6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4646 MYO6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4646 MYO6 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4646 MYO6 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4646 MYO6 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 4646 MYO6 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 4647 MYO7A CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 4647 MYO7A CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 4647 MYO7A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4647 MYO7A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4647 MYO7A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 4647 MYO7A CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4647 MYO7A CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 4650 MYO9B C0007570 Celiac disease OMIM phenotypic series PS212750 16 Feb 2016 4650 MYO9B C0007570 Celiac disease Human Phenotype Ontology HP:0002608 16 Feb 2016 4653 MYOC C0017601 Glaucoma NCBI curation 16 Feb 2016 9499 MYOT C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 9499 MYOT CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 9499 MYOT C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 9499 MYOT C2678065 Myofibrillar myopathy Human Phenotype Ontology HP:0003715 16 Feb 2016 51778 MYOZ2 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 51778 MYOZ2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 4669 NAGLU C0026706 Sanfilippo syndrome NCBI curation 16 Feb 2016 162417 NAGS C0154246 Disorder of the urea cycle metabolism 16 Feb 2016 79731 NARS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 653361 NCF1 C0018203 Chronic granulomatous disease 16 Feb 2016 4688 NCF2 C0018203 Chronic granulomatous disease 16 Feb 2016 4689 NCF4 C0018203 Chronic granulomatous disease 16 Feb 2016 10397 NDRG1 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 10397 NDRG1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 4703 NEB C0206157 Nemaline myopathy OMIM phenotypic series PS161800 16 Feb 2016 4744 NEFH C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 4744 NEFH C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 4747 NEFL C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 4747 NEFL C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 4747 NEFL C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 4747 NEFL C0751036 Charcot-Marie-Tooth disease, type I NCBI curation 16 Feb 2016 4751 NEK2 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 284086 NEK8 C0687120 Nephronophthisis OMIM phenotypic series PS256100 16 Feb 2016 284086 NEK8 C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 16 Feb 2016 4758 NEU1 C0268226 Sialidosis Orphanet ORPHA309294 25 Aug 2017 91624 NEXN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 91624 NEXN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 91624 NEXN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 91624 NEXN C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 91624 NEXN C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 4763 NF1 CN166718 Rasopathy NCBI curation 16 Feb 2016 4763 NF1 CN166718 Rasopathy NCBI curation 16 Feb 2016 4771 NF2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 55768 NGLY1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 378884 NHLRC1 Progressive myoclonus epilepsy NCBI curation 16 Feb 2016 55651 NHP2 C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 55651 NHP2 C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 348938 NIPAL4 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 25836 NIPBL C0270972 De Lange syndrome NCBI curation 16 Feb 2016 54413 NLGN3 C0236792 Asperger's disease NCBI curation 19 Jan 2017 54413 NLGN3 C1510586 Autism spectrum disorder MONDO MONDO:0005258 06 Jul 2018 57502 NLGN4X C1510586 Autism spectrum disorder MONDO MONDO:0005258 06 Jul 2018 57502 NLGN4X C1510586 Autism spectrum disorder MONDO MONDO:0005258 06 Jul 2018 57502 NLGN4X C0236792 Asperger's disease NCBI curation 19 Jan 2017 51314 NME8 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 64802 NMNAT1 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 135935 NOBOX C0085215 Premature ovarian failure OMIM phenotypic series PS311360 16 Feb 2016 55505 NOP10 C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 4853 NOTCH2 C0085280 Arteriohepatic dysplasia NCBI curation 16 Feb 2016 4854 NOTCH3 C0432284 Infantile myofibromatosis OMIM phenotypic series PS228550 16 Feb 2016 4864 NPC1 C0220756 Niemann-Pick disease, type C NCBI curation 16 Feb 2016 4864 NPC1 C0028064 Sphingomyelin/cholesterol lipidosis NCBI curation 16 Feb 2016 10577 NPC2 C0028064 Sphingomyelin/cholesterol lipidosis NCBI curation 16 Feb 2016 10577 NPC2 C0220756 Niemann-Pick disease, type C NCBI curation 16 Feb 2016 4867 NPHP1 C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 16 Feb 2016 4867 NPHP1 C0687120 Nephronophthisis OMIM phenotypic series PS256100 16 Feb 2016 4867 NPHP1 C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 4867 NPHP1 C0403553 Renal dysplasia and retinal aplasia NCBI curation 16 Feb 2016 27031 NPHP3 C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 27031 NPHP3 C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 16 Feb 2016 27031 NPHP3 C0687120 Nephronophthisis OMIM phenotypic series PS256100 16 Feb 2016 261734 NPHP4 C0687120 Nephronophthisis OMIM phenotypic series PS256100 16 Feb 2016 261734 NPHP4 C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 16 Feb 2016 261734 NPHP4 C0403553 Renal dysplasia and retinal aplasia NCBI curation 16 Feb 2016 4868 NPHS1 C1868672 Hereditary nephrotic syndrome NCBI curation 17 Aug 2016 4868 NPHS1 CN043613 Hereditary Nephrotic Syndromes, Autosomal Recessive 16 Feb 2016 7827 NPHS2 CN043613 Hereditary Nephrotic Syndromes, Autosomal Recessive 16 Feb 2016 7827 NPHS2 C1868672 Hereditary nephrotic syndrome NCBI curation 17 Aug 2016 4878 NPPA C0541782 Atrial standstill Human Phenotype Ontology HP:0025478 04 Apr 2018 4835 NQO2 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 190 NR0B1 C2936694 Pure gonadal dysgenesis 46,XY NCBI curation 16 Feb 2016 10002 NR2E3 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 4929 NR4A2 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 2516 NR5A1 C2936694 Pure gonadal dysgenesis 46,XY NCBI curation 16 Feb 2016 2516 NR5A1 C0085215 Premature ovarian failure OMIM phenotypic series PS311360 16 Feb 2016 4893 NRAS CN166718 Rasopathy NCBI curation 16 Feb 2016 4893 NRAS C0028326 Noonan syndrome OMIM phenotypic series PS163950 16 Feb 2016 4893 NRAS C1328840 Autoimmune lymphoproliferative syndrome 601859 16 Feb 2016 3084 NRG1 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 16 Feb 2016 4901 NRL C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 9378 NRXN1 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 16 Feb 2016 4909 NTF4 C0017601 Glaucoma NCBI curation 16 Feb 2016 60506 NYX C0339535 Congenital stationary night blindness Human Phenotype Ontology HP:0007642 16 Feb 2016 60506 NYX CN043584 Congenital stationary night blindness, X-linked NCBI curation 16 Feb 2016 23363 OBSL1 CN073943 Three M syndrome OMIM phenotypic series PS273750 16 Feb 2016 4948 OCA2 C0078918 Oculocutaneous albinism OMIM phenotypic series PS203100 16 Feb 2016 4952 OCRL C0878681 Dent's disease 16 Feb 2016 8481 OFD1 C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 4978 OPCML C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 5956 OPN1LW CN043660 Red-green color vision defects NCBI curation 16 Feb 2016 2652 OPN1MW CN043660 Red-green color vision defects NCBI curation 16 Feb 2016 10133 OPTN C0017601 Glaucoma NCBI curation 16 Feb 2016 55644 OSGEP C0795949 Galloway-Mowat syndrome OMIM phenotypic series PS251300 24 Jul 2018 5009 OTC C0154246 Disorder of the urea cycle metabolism 16 Feb 2016 146183 OTOA C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 146183 OTOA CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 146183 OTOA CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 9381 OTOF CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 9381 OTOF CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 9381 OTOF C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5015 OTX2 CN078207 Pituitary hormone deficiency, combined OMIM phenotypic series PS613038 16 Feb 2016 22953 P2RX2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 22953 P2RX2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 22953 P2RX2 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 64175 P3H1 C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 16 Feb 2016 5048 PAFAH1B1 C0266463 Lissencephaly OMIM phenotypic series PS607432 16 Feb 2016 5048 PAFAH1B1 C1955869 Malformation of cortical development NCBI curation 16 Feb 2016 5048 PAFAH1B1 C0266463 Lissencephaly Human Phenotype Ontology HP:0001339 16 Feb 2016 5053 PAH C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 79728 PALB2 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 79728 PALB2 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 79728 PALB2 C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 79728 PALB2 C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 80025 PANK2 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 11315 PARK7 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 5077 PAX3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5077 PAX3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 7849 PAX8 C0010308 Congenital hypothyroidism Human Phenotype Ontology HP:0000851 16 Feb 2016 5091 PC C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5091 PC C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 5091 PC C0023264 Leigh syndrome Orphanet ORPHA506 256000 16 Feb 2016 388939 PCARE C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 5095 PCCA C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 5096 PCCB C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 65217 PCDH15 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 65217 PCDH15 C1568247 Usher syndrome type 1 MONDO MONDO:0010168 276900 22 Apr 2020 65217 PCDH15 C1568247 Usher syndrome type 1 MONDO MONDO:0010168 276900 22 Apr 2020 65217 PCDH15 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 65217 PCDH15 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 65217 PCDH15 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 65217 PCDH15 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 27445 PCLO C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 5122 PCSK1 CN043636 Monogenic Non-Syndromic Obesity, Autosomal Recessive 16 Feb 2016 255738 PCSK9 C0020445 Familial hypercholesterolemia 15 Jan 2020 5133 PDCD1 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 16 Feb 2016 11235 PDCD10 C2919945 Cerebral cavernous malformation 116860 16 Feb 2016 10846 PDE10A C4511004 Autosomal dominant striatal neurodegeneration Orphanet ORPHA228169 01 Jul 2017 50940 PDE11A C4304832 Primary pigmented nodular adrenocortical disease Orphanet ORPHA189439 01 Jul 2017 5145 PDE6A C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 5158 PDE6B C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 8622 PDE8B C4511004 Autosomal dominant striatal neurodegeneration Orphanet ORPHA228169 01 Jul 2017 8622 PDE8B C4304832 Primary pigmented nodular adrenocortical disease Orphanet ORPHA189439 01 Jul 2017 5159 PDGFRB C0432284 Infantile myofibromatosis OMIM phenotypic series PS228550 16 Feb 2016 5160 PDHA1 C0023264 Leigh syndrome Orphanet ORPHA506 256000 16 Feb 2016 5160 PDHA1 C0034345 Pyruvate dehydrogenase complex deficiency OMIM phenotypic series PS312170 16 Feb 2016 5160 PDHA1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 5160 PDHA1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5162 PDHB C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 5162 PDHB C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5162 PDHB C0034345 Pyruvate dehydrogenase complex deficiency OMIM phenotypic series PS312170 16 Feb 2016 5162 PDHB C0023264 Leigh syndrome Orphanet ORPHA506 256000 16 Feb 2016 8050 PDHX C0023264 Leigh syndrome Orphanet ORPHA506 256000 16 Feb 2016 8050 PDHX C0034345 Pyruvate dehydrogenase complex deficiency OMIM phenotypic series PS312170 16 Feb 2016 8050 PDHX C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 8050 PDHX C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 3651 PDX1 C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 3651 PDX1 C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 79955 PDZD7 C0339534 Usher syndrome type 2 16 Feb 2016 79955 PDZD7 C0339534 Usher syndrome type 2 16 Feb 2016 79955 PDZD7 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 79955 PDZD7 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 100131801 PET100 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 100131801 PET100 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 5189 PEX1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5189 PEX1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5189 PEX1 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5189 PEX1 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5189 PEX1 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5189 PEX1 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5192 PEX10 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5192 PEX10 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5192 PEX10 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5192 PEX10 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5192 PEX10 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5192 PEX10 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 8799 PEX11B C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 8799 PEX11B C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 8799 PEX11B CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5193 PEX12 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5193 PEX12 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5193 PEX12 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5193 PEX12 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5193 PEX12 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5193 PEX12 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5194 PEX13 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5194 PEX13 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5194 PEX13 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5194 PEX13 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5194 PEX13 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5194 PEX13 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5195 PEX14 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5195 PEX14 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5195 PEX14 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 9409 PEX16 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 9409 PEX16 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 9409 PEX16 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 9409 PEX16 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 9409 PEX16 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 9409 PEX16 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5824 PEX19 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5824 PEX19 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5824 PEX19 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5828 PEX2 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5828 PEX2 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5828 PEX2 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5828 PEX2 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5828 PEX2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5828 PEX2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 55670 PEX26 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 55670 PEX26 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 55670 PEX26 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 55670 PEX26 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 55670 PEX26 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 55670 PEX26 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 8504 PEX3 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 8504 PEX3 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 8504 PEX3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5830 PEX5 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5830 PEX5 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5830 PEX5 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5830 PEX5 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5830 PEX5 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5830 PEX5 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5190 PEX6 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5190 PEX6 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5190 PEX6 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5190 PEX6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5190 PEX6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5190 PEX6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5191 PEX7 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5191 PEX7 C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum NCBI curation 16 Feb 2016 5191 PEX7 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5191 PEX7 CN168920 Peroxisome biogenesis disorders NCBI curation 16 Feb 2016 5191 PEX7 C0282529 Rhizomelic chondrodysplasia punctata OMIM phenotypic series PS215100 16 Feb 2016 5213 PFKM C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 5224 PGAM2 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 27315 PGAP2 C1855923 Hyperphosphatasia-intellectual disability syndrome Orphanet ORPHA247262 06 Apr 2018 93210 PGAP3 C1855923 Hyperphosphatasia-intellectual disability syndrome Orphanet ORPHA247262 06 Apr 2018 5236 PGM1 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 5245 PHB C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 1911 PHC1 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 5255 PHKA1 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 5255 PHKA1 C0268147 Glycogen phosphorylase kinase deficiency NCBI curation 16 Feb 2016 5256 PHKA2 C0268147 Glycogen phosphorylase kinase deficiency NCBI curation 16 Feb 2016 5256 PHKA2 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 5257 PHKB C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 5257 PHKB C0268147 Glycogen phosphorylase kinase deficiency NCBI curation 16 Feb 2016 5261 PHKG2 C0268147 Glycogen phosphorylase kinase deficiency NCBI curation 16 Feb 2016 5261 PHKG2 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 401 PHOX2A CN043677 Congenital fibrosis of the extraocular muscles NCBI curation 16 Feb 2016 8929 PHOX2B C0027819 Neuroblastoma Human Phenotype Ontology HP:0003006 256700 16 Feb 2016 63895 PIEZO2 C0265213 Distal arthrogryposis Human Phenotype Ontology HP:0005684 16 Feb 2016 63895 PIEZO2 C0265213 Distal arthrogryposis Human Phenotype Ontology HP:0005684 16 Feb 2016 84720 PIGO C1855923 Hyperphosphatasia-intellectual disability syndrome Orphanet ORPHA247262 06 Apr 2018 55650 PIGV C1855923 Hyperphosphatasia-intellectual disability syndrome Orphanet ORPHA247262 06 Apr 2018 284098 PIGW C1855923 Hyperphosphatasia-intellectual disability syndrome Orphanet ORPHA247262 06 Apr 2018 84992 PIGY C1855923 Hyperphosphatasia-intellectual disability syndrome Orphanet ORPHA247262 06 Apr 2018 5290 PIK3CA C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 5290 PIK3CA C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 5290 PIK3CA C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 65018 PINK1 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 65018 PINK1 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 65018 PINK1 C1970035 Parkinson disease 6 NCBI curation 16 Feb 2016 5308 PITX2 C0265341 Rieger syndrome NCBI curation 16 Feb 2016 494513 PJVK CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 494513 PJVK CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 494513 PJVK C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5310 PKD1 C0085413 Polycystic kidney disease, autosomal dominant NCBI curation 16 Feb 2016 5311 PKD2 C0085413 Polycystic kidney disease, autosomal dominant NCBI curation 16 Feb 2016 5318 PKP2 C0349788 Arrhythmogenic right ventricular cardiomyopathy NCBI curation 16 Feb 2016 5318 PKP2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 8398 PLA2G6 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 8398 PLA2G6 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 8398 PLA2G6 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 5332 PLCB4 C1865295 Auriculocondylar syndrome OMIM phenotypic series PS602483 16 Feb 2016 5339 PLEC C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 5339 PLEC C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 5339 PLEC C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 5346 PLIN1 C0271694 Familial partial lipodystrophy NCBI curation 16 Feb 2016 5350 PLN C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 5350 PLN C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 5350 PLN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 5350 PLN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 5350 PLN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 5373 PMM2 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 5376 PMP22 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 5376 PMP22 C0751036 Charcot-Marie-Tooth disease, type I NCBI curation 16 Feb 2016 5376 PMP22 C0751036 Charcot-Marie-Tooth disease, type I NCBI curation 16 Feb 2016 5376 PMP22 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 5376 PMP22 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 5376 PMP22 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 5378 PMS1 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 5378 PMS1 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 5378 PMS1 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 5395 PMS2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 5395 PMS2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 5395 PMS2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 5395 PMS2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 5395 PMS2 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 5395 PMS2 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 5395 PMS2 C2713442 Familial adenomatous polyposis 1 NCBI curation 175100 16 Feb 2016 5395 PMS2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 5395 PMS2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 5395 PMS2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 5395 PMS2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 25953 PNKD C1869117 Paroxysmal non-kinesigenic dyskinesia Orphanet ORPHA98810 08 Oct 2018 285848 PNPLA1 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 87178 PNPT1 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 79983 POF1B C0085215 Premature ovarian failure OMIM phenotypic series PS311360 16 Feb 2016 5424 POLD1 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 5424 POLD1 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 5429 POLH C0043346 Xeroderma pigmentosum NCBI curation 16 Feb 2016 9533 POLR1C C0242387 Treacher Collins syndrome OMIM phenotypic series PS154500 16 Feb 2016 51082 POLR1D C0242387 Treacher Collins syndrome OMIM phenotypic series PS154500 16 Feb 2016 11128 POLR3A CN168056 Pol III-related leukodystrophy NCBI curation 16 Feb 2016 55703 POLR3B CN168056 Pol III-related leukodystrophy NCBI curation 16 Feb 2016 55703 POLR3B CN168056 Pol III-related leukodystrophy NCBI curation 16 Feb 2016 5443 POMC CN043636 Monogenic Non-Syndromic Obesity, Autosomal Recessive 16 Feb 2016 55624 POMGNT1 C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 55624 POMGNT1 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 55624 POMGNT1 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 55624 POMGNT1 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 10585 POMT1 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 10585 POMT1 C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 29954 POMT2 C2936406 alpha-Dystroglycan related dystrophy NCBI curation 16 Feb 2016 29954 POMT2 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 5444 PON1 CN357508 Microvascular complications of diabetes OMIM phenotypic series PS603933 31 Jul 2017 5447 POR CN220439 Antley-Bixler syndrome NCBI curation 16 Feb 2016 5447 POR CN220439 Antley-Bixler syndrome NCBI curation 16 Feb 2016 5447 POR CN220439 Antley-Bixler syndrome NCBI curation 16 Feb 2016 5449 POU1F1 CN078207 Pituitary hormone deficiency, combined OMIM phenotypic series PS613038 16 Feb 2016 5456 POU3F4 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 5459 POU4F3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5459 POU4F3 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 5459 POU4F3 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 11281 POU6F2 C0027708 Nephroblastoma Human Phenotype Ontology HP:0002667 16 Feb 2016 5468 PPARG C0271694 Familial partial lipodystrophy NCBI curation 16 Feb 2016 5479 PPIB C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 16 Feb 2016 8493 PPM1D C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 10842 PPP1R17 C0020476 Hyperlipoproteinemia Human Phenotype Ontology HP:0010980 16 Feb 2016 10842 PPP1R17 C0020445 Familial hypercholesterolemia 15 Jan 2020 5519 PPP2R1B C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 5538 PPT1 C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 5546 PRCC C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 768206 PRCD C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 5052 PRDX1 C1263739 Disorder of organic acid metabolism NCBI curation 16 Feb 2016 5052 PRDX1 CN043592 Disorders of Intracellular Cobalamin Metabolism 16 Feb 2016 5551 PRF1 C0272199 Familial hemophagocytic lymphohistiocytosis NCBI curation 16 Feb 2016 144165 PRICKLE1 Progressive myoclonus epilepsy NCBI curation 16 Feb 2016 5566 PRKACA C4304832 Primary pigmented nodular adrenocortical disease Orphanet ORPHA189439 01 Jul 2017 51422 PRKAG2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 51422 PRKAG2 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 5573 PRKAR1A C4304832 Primary pigmented nodular adrenocortical disease Orphanet ORPHA189439 01 Jul 2017 5573 PRKAR1A C0406810 Carney complex NCBI curation 16 Feb 2016 5592 PRKG1 C4707243 Familial thoracic aortic aneurysm and aortic dissection Orphanet ORPHA91387 27 Apr 2020 5592 PRKG1 C4707243 Familial thoracic aortic aneurysm and aortic dissection MONDO MONDO:0019625 27 Apr 2020 5071 PRKN C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 5071 PRKN C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 5071 PRKN C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 5621 PRNP C0162534 Genetic prion diseases NCBI curation 16 Feb 2016 5621 PRNP C0162534 Genetic prion diseases NCBI curation 16 Feb 2016 5621 PRNP C0162534 Genetic prion diseases NCBI curation 16 Feb 2016 5624 PROC C3160733 Venous thrombosis Human Phenotype Ontology HP:0004936 188050 16 Feb 2016 5625 PRODH C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 16 Feb 2016 60675 PROK2 C0162809 Hypogonadism with anosmia 16 Feb 2016 128674 PROKR2 C0162809 Hypogonadism with anosmia 16 Feb 2016 8842 PROM1 C0271093 Stargardt disease Orphanet ORPHA827 27 Oct 2016 8842 PROM1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 5626 PROP1 CN078207 Pituitary hormone deficiency, combined OMIM phenotypic series PS613038 16 Feb 2016 5627 PROS1 C3160733 Venous thrombosis Human Phenotype Ontology HP:0004936 188050 16 Feb 2016 9129 PRPF3 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 26121 PRPF31 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 9128 PRPF4 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 24148 PRPF6 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 10594 PRPF8 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 5630 PRPH C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 5630 PRPH C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 5961 PRPH2 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 5631 PRPS1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 5631 PRPS1 CN118851 Charcot-Marie-Tooth Neuropathy X 16 Feb 2016 112476 PRRT2 C1868682 Paroxysmal kinesigenic dyskinesia Orphanet ORPHA98809 22 Jan 2017 5396 PRRX1 C0079541 Holoprosencephaly sequence NCBI curation 16 Feb 2016 57716 PRX C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 57716 PRX C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 57716 PRX C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 57716 PRX C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 5660 PSAP C0017205 Gaucher disease 16 Feb 2016 5663 PSEN1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 5663 PSEN1 CN043596 Early-onset autosomal dominant Alzheimer disease MONDO MONDO:0015140 17 Apr 2020 5663 PSEN1 C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 19 Feb 2020 5664 PSEN2 C0002395 Alzheimer disease Human Phenotype Ontology HP:0002511 104300 19 Feb 2020 5664 PSEN2 CN043596 Early-onset autosomal dominant Alzheimer disease MONDO MONDO:0015140 17 Apr 2020 5664 PSEN2 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 5664 PSEN2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 5664 PSEN2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 5727 PTCH1 C0079541 Holoprosencephaly sequence NCBI curation 16 Feb 2016 8643 PTCH2 C0017638 Glioma Human Phenotype Ontology HP:0009733 16 Feb 2016 8643 PTCH2 C0017638 Glioma OMIM phenotypic series PS137800 16 Feb 2016 5728 PTEN C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 5728 PTEN C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 5728 PTEN C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 5728 PTEN C0006142 Familial cancer of breast NCBI curation 114480 16 Feb 2016 5728 PTEN C0006142 Familial cancer of breast NCBI curation 114480 16 Feb 2016 5781 PTPN11 C0175704 Noonan syndrome with multiple lentigines Orphanet ORPHA500 26 Apr 2016 5781 PTPN11 CN166718 Rasopathy NCBI curation 16 Feb 2016 5781 PTPN11 CN166718 Rasopathy NCBI curation 16 Feb 2016 5781 PTPN11 CN166718 Rasopathy NCBI curation 16 Feb 2016 5781 PTPN11 CN166718 Rasopathy NCBI curation 16 Feb 2016 5781 PTPN11 CN166718 Rasopathy NCBI curation 16 Feb 2016 374462 PTPRQ CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 374462 PTPRQ C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 374462 PTPRQ CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 80324 PUS1 C1838103 Mitochondrial myopathy and sideroblastic anemia Orphanet ORPHA2598 16 Feb 2016 5831 PYCR1 C3665335 Cutis laxa, autosomal recessive NCBI curation 16 Feb 2016 5831 PYCR1 C3665335 Cutis laxa, autosomal recessive NCBI curation 16 Feb 2016 5837 PYGM C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 5860 QDPR C0751434 Phenylketonuria NCBI curation 261600 16 Feb 2016 5860 QDPR C0002514 Disorder of amino acid metabolism NCBI curation CDC MMWR 16 Feb 2016 22931 RAB18 CN158709 Warburg micro syndrome OMIM phenotypic series PS600118 16 Feb 2016 116442 RAB39B C0036868 Anomaly of sex chromosome NCBI curation 16 Feb 2016 116442 RAB39B CN179857 X chromosome deletion/duplication NCBI curation 16 Feb 2016 22930 RAB3GAP1 CN158709 Warburg micro syndrome OMIM phenotypic series PS600118 16 Feb 2016 25782 RAB3GAP2 CN158709 Warburg micro syndrome OMIM phenotypic series PS600118 16 Feb 2016 7879 RAB7A C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 7879 RAB7A C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 5888 RAD51 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 5889 RAD51C C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 5889 RAD51C C0677776 Hereditary breast and ovarian cancer syndrome Orphanet ORPHA145 16 Feb 2016 5889 RAD51C C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 5889 RAD51C C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 5889 RAD51C C0006142 Familial cancer of breast NCBI curation 114480 16 Feb 2016 5892 RAD51D C0006142 Familial cancer of breast NCBI curation 114480 16 Feb 2016 5892 RAD51D C0677776 Hereditary breast and ovarian cancer syndrome Orphanet ORPHA145 16 Feb 2016 5892 RAD51D C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 8438 RAD54L C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 5894 RAF1 CN166718 Rasopathy NCBI curation 16 Feb 2016 5894 RAF1 CN166718 Rasopathy NCBI curation 16 Feb 2016 5894 RAF1 C0175704 Noonan syndrome with multiple lentigines Orphanet ORPHA500 26 Apr 2016 5894 RAF1 C0028326 Noonan syndrome OMIM phenotypic series PS163950 16 Feb 2016 57038 RARS2 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 84839 RAX2 C0242383 Age-related macular degeneration Human Phenotype Ontology HP:0007868 16 Feb 2016 5925 RB1 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 9821 RB1CC1 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 10616 RBCK1 CN228160 Polyglucosan body myopathy OMIM phenotypic series PS615895 16 Feb 2016 10137 RBM12 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 16 Feb 2016 282996 RBM20 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 282996 RBM20 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 282996 RBM20 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 3516 RBPJ C0265268 Adams-Oliver syndrome OMIM phenotypic series PS100300 16 Feb 2016 343035 RD3 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 145226 RDH12 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 145226 RDH12 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 5962 RDX CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 5962 RDX CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 5962 RDX C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 65055 REEP1 CN169884 Distal hereditary motor neuronopathy NCBI curation 16 Feb 2016 5649 RELN C0266463 Lissencephaly Human Phenotype Ontology HP:0001339 16 Feb 2016 5649 RELN C1955869 Malformation of cortical development NCBI curation 16 Feb 2016 5649 RELN C0266463 Lissencephaly OMIM phenotypic series PS607432 16 Feb 2016 5978 REST C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5978 REST CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 5978 REST CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 5979 RET C4048306 Multiple endocrine neoplasia, type 2 NCBI curation 16 Feb 2016 5979 RET C4048306 Multiple endocrine neoplasia, type 2 NCBI curation 16 Feb 2016 5979 RET C4048306 Multiple endocrine neoplasia, type 2 NCBI curation 16 Feb 2016 5979 RET C0019569 Hirschsprung disease Orphanet ORPHA388 13 Jan 2017 5979 RET C0019569 Hirschsprung disease OMIM phenotypic series PS142623 13 Jan 2017 54463 RETREG1 C0020072 Hereditary sensory and autonomic neuropathy type II GeneReviews NBK49247 16 Feb 2016 54463 RETREG1 C0020072 Hereditary sensory and autonomic neuropathy type II GeneReviews NBK49247 16 Feb 2016 91869 RFT1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 5995 RGR C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 6010 RHO C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 6016 RIT1 C0028326 Noonan syndrome OMIM phenotypic series PS163950 16 Feb 2016 6016 RIT1 CN166718 Rasopathy NCBI curation 16 Feb 2016 6017 RLBP1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 55005 RMND1 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 6023 RMRP CN118832 Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 16 Feb 2016 6023 RMRP CN118832 Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 16 Feb 2016 6023 RMRP CN118832 Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 16 Feb 2016 10535 RNASEH2A C0393591 Aicardi Goutieres syndrome NCBI curation 16 Feb 2016 79621 RNASEH2B C0393591 Aicardi Goutieres syndrome NCBI curation 16 Feb 2016 84153 RNASEH2C C0393591 Aicardi Goutieres syndrome NCBI curation 16 Feb 2016 6101 RP1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 6102 RP2 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 6100 RP9 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 6121 RPE65 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 6121 RPE65 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 6103 RPGR C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 57096 RPGRIP1 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 23322 RPGRIP1L C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 16 Feb 2016 23322 RPGRIP1L C0687120 Nephronophthisis OMIM phenotypic series PS256100 16 Feb 2016 23322 RPGRIP1L C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 6135 RPL11 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6138 RPL15 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6141 RPL18 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6154 RPL26 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6155 RPL27 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 11224 RPL35 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6165 RPL35A C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6125 RPL5 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6204 RPS10 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6210 RPS15A C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6218 RPS17 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6223 RPS19 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6229 RPS24 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6231 RPS26 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6232 RPS27 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6234 RPS28 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6235 RPS29 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 6201 RPS7 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 50484 RRM2B C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 50484 RRM2B C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 50484 RRM2B CN043632 Mitochondrial DNA Deletion Syndromes 16 Feb 2016 50484 RRM2B C4707428 Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form 16 Feb 2016 89765 RSPH1 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 83861 RSPH3 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 345895 RSPH4A C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 221421 RSPH9 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 51750 RTEL1 C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 6261 RYR1 Multiminicore Disease NCBI curation 16 Feb 2016 6261 RYR1 Multiminicore Disease NCBI curation 16 Feb 2016 6261 RYR1 C0024591 Malignant hyperthermia susceptibility NCBI curation 16 Feb 2016 6261 RYR1 CN181223 Statin causing adverse effect in therapeutic use NCBI curation 16 Feb 2016 6261 RYR1 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 6261 RYR1 C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 6262 RYR2 C0349788 Arrhythmogenic right ventricular cardiomyopathy NCBI curation 16 Feb 2016 6262 RYR2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 9294 S1PR2 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 9294 S1PR2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 9294 S1PR2 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 6295 SAG C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 25939 SAMHD1 C0393591 Aicardi Goutieres syndrome NCBI curation 16 Feb 2016 163786 SASS6 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 6305 SBF1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 81846 SBF2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 81846 SBF2 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 6323 SCN1A C0338484 Familial hemiplegic migraine 16 Feb 2016 6324 SCN1B C1142166 Brugada syndrome OMIM phenotypic series PS601144 16 Feb 2016 55800 SCN3B C1142166 Brugada syndrome OMIM phenotypic series PS601144 16 Feb 2016 6329 SCN4A C0238358 Hypokalemic periodic paralysis NCBI curation 16 Feb 2016 6329 SCN4A C0238358 Hypokalemic periodic paralysis NCBI curation 16 Feb 2016 6329 SCN4A C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 6329 SCN4A C0023264 Leigh syndrome Orphanet ORPHA506 256000 16 Feb 2016 6329 SCN4A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6329 SCN4A C0751882 Congenital myasthenic syndrome NCBI curation 16 Feb 2016 6330 SCN4B C0035828 Romano-Ward syndrome 16 Feb 2016 6331 SCN5A C0035828 Romano-Ward syndrome 16 Feb 2016 6331 SCN5A C1142166 Brugada syndrome OMIM phenotypic series PS601144 16 Feb 2016 6331 SCN5A C0007193 Primary dilated cardiomyopathy NCBI curation 16 Feb 2016 6331 SCN5A C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 6331 SCN5A C0340493 Paroxysmal familial ventricular fibrillation NCBI curation 05 Sep 2016 6331 SCN5A C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 6335 SCN9A C0020072 Hereditary sensory and autonomic neuropathy type II GeneReviews NBK49247 16 Feb 2016 6341 SCO1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 6341 SCO1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10806 SDCCAG8 C0403553 Renal dysplasia and retinal aplasia NCBI curation 16 Feb 2016 6389 SDHA C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6389 SDHA C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6389 SDHA C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 6389 SDHA C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 6389 SDHA C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviews NBK1548 16 Feb 2016 6389 SDHA C0007193 Primary dilated cardiomyopathy NCBI curation 16 Feb 2016 6389 SDHA C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 6389 SDHA C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 644096 SDHAF1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 644096 SDHAF1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 54949 SDHAF2 C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviews NBK1548 16 Feb 2016 6390 SDHB C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviews NBK1548 16 Feb 2016 6391 SDHC C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviews NBK1548 16 Feb 2016 6392 SDHD C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndromes GeneReviews NBK1548 16 Feb 2016 6392 SDHD C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6392 SDHD C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 10483 SEC23B C0002876 Congenital dyserythropoietic anemia Orphanet ORPHA85 25 May 2016 57190 SELENON C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 57190 SELENON C0699743 Congenital muscular dystrophy Human Phenotype Ontology HP:0003741 16 Feb 2016 64218 SEMA4A C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 51091 SEPSECS C2932714 Pontocerebellar hypoplasia type 2 16 Feb 2016 51091 SEPSECS C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 5269 SERPINB6 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5269 SERPINB6 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 5269 SERPINB6 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 462 SERPINC1 C3160733 Venous thrombosis Human Phenotype Ontology HP:0004936 188050 16 Feb 2016 5176 SERPINF1 C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 16 Feb 2016 710 SERPING1 C0019243 Hereditary angioneurotic edema NCBI curation 16 Feb 2016 710 SERPING1 C0019243 Hereditary angioneurotic edema NCBI curation 16 Feb 2016 871 SERPINH1 C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 16 Feb 2016 23064 SETX C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 23064 SETX C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 6439 SFTPB C3711368 Pulmonary surfactant metabolism dysfunction NCBI curation 06 Feb 2020 6440 SFTPC C3711368 Pulmonary surfactant metabolism dysfunction NCBI curation 06 Feb 2020 119559 SFXN4 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 6442 SGCA C2936331 Sarcoglycanopathy MONDO MONDO:0016140 17 Apr 2020 6442 SGCA C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 6442 SGCA C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 6442 SGCA C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 6444 SGCD C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 6444 SGCD C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 6444 SGCD C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 6445 SGCG C2936331 Sarcoglycanopathy MONDO MONDO:0016140 17 Apr 2020 6445 SGCG C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 6445 SGCG C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 6445 SGCG C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 6448 SGSH C0026706 Sanfilippo syndrome NCBI curation 16 Feb 2016 10019 SH2B3 C0152264 Familial erythrocytosis NCBI curation 16 Feb 2016 79628 SH3TC2 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 79628 SH3TC2 C4082197 Charcot-Marie-Tooth disease type 4 NCBI curation 30 Jan 2019 85358 SHANK3 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 16 Feb 2016 6469 SHH C0079541 Holoprosencephaly sequence NCBI curation 16 Feb 2016 8036 SHOC2 CN166718 Rasopathy NCBI curation 16 Feb 2016 10280 SIGMAR1 C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 10280 SIGMAR1 C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 10280 SIGMAR1 C3468114 Juvenile amyotrophic lateral sclerosis Orphanet ORPHA300605 24 Dec 2016 6495 SIX1 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 6495 SIX1 CN043574 Branchiootorenal Spectrum Disorders 16 Feb 2016 6495 SIX1 CN043574 Branchiootorenal Spectrum Disorders 16 Feb 2016 6495 SIX1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 6495 SIX1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6495 SIX1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6495 SIX1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6496 SIX3 C0079541 Holoprosencephaly sequence NCBI curation 16 Feb 2016 147912 SIX5 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 147912 SIX5 CN043574 Branchiootorenal Spectrum Disorders 16 Feb 2016 4990 SIX6 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 01 Sep 2017 6557 SLC12A1 C0004775 Bartter syndrome OMIM phenotypic series PS601678 10 Sep 2018 6557 SLC12A1 CN239220 Antenatal Bartter Syndrome NCBI curation 02 Dec 2016 6566 SLC16A1 C3888018 Familial hyperinsulinism NCBI curation 16 Feb 2016 246213 SLC17A8 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 246213 SLC17A8 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 246213 SLC17A8 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 6505 SLC1A1 C0036341 Schizophrenia Human Phenotype Ontology HP:0100753 181500 16 Feb 2016 6507 SLC1A3 C1720189 Episodic ataxia Human Phenotype Ontology HP:0002131 16 Feb 2016 6507 SLC1A3 C1720189 Episodic ataxia OMIM phenotypic series PS160120 16 Feb 2016 5002 SLC22A18 C0024121 Neoplasm of lung NCBI curation 16 Feb 2016 5002 SLC22A18 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 6584 SLC22A5 C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 10165 SLC25A13 C1997910 Citrin deficiency NCBI curation 16 Feb 2016 10165 SLC25A13 C1997910 Citrin deficiency NCBI curation 16 Feb 2016 788 SLC25A20 C0268634 Disorder of fatty acid metabolism NCBI curation 16 Feb 2016 115286 SLC25A26 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 1836 SLC26A2 CN163181 Atelosteogenesis OMIM phenotypic series PS108720 16 Feb 2016 5172 SLC26A4 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 5172 SLC26A4 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 5172 SLC26A4 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 375611 SLC26A5 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 375611 SLC26A5 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 375611 SLC26A5 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 6513 SLC2A1 C1847501 GLUT1 deficiency syndrome MONDO MONDO:0000188 22 Apr 2020 6513 SLC2A1 C1847501 GLUT1 deficiency syndrome MONDO MONDO:0000188 22 Apr 2020 6513 SLC2A1 C1847501 GLUT1 deficiency syndrome MONDO MONDO:0000188 22 Apr 2020 10559 SLC35A1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 55343 SLC35C1 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 2542 SLC37A4 C0017920 Glycogen storage disease, type I NCBI curation 16 Feb 2016 2542 SLC37A4 C0017919 Glycogen storage disease NCBI curation 16 Feb 2016 30061 SLC40A1 C0392514 Hereditary hemochromatosis NCBI curation 16 Feb 2016 51151 SLC45A2 C0078918 Oculocutaneous albinism OMIM phenotypic series PS203100 16 Feb 2016 6521 SLC4A1 C0037889 Hereditary spherocytosis NCBI curation 16 Feb 2016 60482 SLC5A7 CN169884 Distal hereditary motor neuronopathy NCBI curation 16 Feb 2016 9152 SLC6A5 C0234166 Hyperekplexia OMIM phenotypic series PS149400 16 Feb 2016 9152 SLC6A5 C0234166 Hyperekplexia GeneReviews NBK1260 16 Feb 2016 6535 SLC6A8 CN227588 Cerebral creatine deficiency syndrome OMIM phenotypic series PS300352 16 Feb 2016 57709 SLC7A14 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 10599 SLCO1B1 CN181223 Statin causing adverse effect in therapeutic use NCBI curation 16 Feb 2016 10599 SLCO1B1 CN181223 Statin causing adverse effect in therapeutic use NCBI curation 16 Feb 2016 84464 SLX4 C0015625 Fanconi anemia OMIM phenotypic series PS227650 16 Feb 2016 84464 SLX4 C0015625 Fanconi anemia Orphanet ORPHA84 16 Feb 2016 4088 SMAD3 C2697932 Loeys-Dietz syndrome OMIM phenotypic series PS609192 16 Feb 2016 4089 SMAD4 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4089 SMAD4 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4089 SMAD4 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4089 SMAD4 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4089 SMAD4 C0039445 Hereditary hemorrhagic telangiectasia NCBI curation 26 Jul 2018 4092 SMAD7 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 4092 SMAD7 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 4093 SMAD9 C4552070 Primary pulmonary hypertension 178600 16 Feb 2016 8243 SMC1A C0270972 De Lange syndrome NCBI curation 16 Feb 2016 9126 SMC3 C0270972 De Lange syndrome NCBI curation 16 Feb 2016 6606 SMN1 C0026847 Spinal muscular atrophy Human Phenotype Ontology HP:0007269 16 Feb 2016 6606 SMN1 C0026847 Spinal muscular atrophy Human Phenotype Ontology HP:0007269 16 Feb 2016 6606 SMN1 C0026847 Spinal muscular atrophy Human Phenotype Ontology HP:0007269 16 Feb 2016 6606 SMN1 C0026847 Spinal muscular atrophy Human Phenotype Ontology HP:0007269 16 Feb 2016 6607 SMN2 C0026847 Spinal muscular atrophy Human Phenotype Ontology HP:0007269 16 Feb 2016 6609 SMPD1 C0028064 Sphingomyelin/cholesterol lipidosis NCBI curation 16 Feb 2016 6609 SMPD1 C0028064 Sphingomyelin/cholesterol lipidosis NCBI curation 16 Feb 2016 6609 SMPD1 CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 6591 SNAI2 C2700265 Waardenburg syndrome type 2 16 Feb 2016 6591 SNAI2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6622 SNCA C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 6622 SNCA C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 9627 SNCAIP C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 23020 SNRNP200 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 6638 SNRPN C1510586 Autism spectrum disorder MONDO MONDO:0005258 06 Jul 2018 6640 SNTA1 C0035828 Romano-Ward syndrome 16 Feb 2016 6647 SOD1 C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 6647 SOD1 C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 6648 SOD2 CN357508 Microvascular complications of diabetes OMIM phenotypic series PS603933 31 Jul 2017 6654 SOS1 C0028326 Noonan syndrome OMIM phenotypic series PS163950 16 Feb 2016 6654 SOS1 CN166718 Rasopathy NCBI curation 16 Feb 2016 6654 SOS1 CN166718 Rasopathy NCBI curation 16 Feb 2016 50964 SOST C0265301 Sclerosteosis OMIM phenotypic series PS269500 27 Oct 2017 6663 SOX10 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6663 SOX10 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6663 SOX10 C2700265 Waardenburg syndrome type 2 16 Feb 2016 6657 SOX2 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 01 Sep 2017 121340 SP7 C0029434 Osteogenesis imperfecta OMIM phenotypic series PS166200 16 Feb 2016 6674 SPAG1 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 55812 SPATA7 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 55812 SPATA7 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 80208 SPG11 C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 80208 SPG11 C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 80208 SPG11 C3468114 Juvenile amyotrophic lateral sclerosis Orphanet ORPHA300605 24 Dec 2016 161742 SPRED1 CN166718 Rasopathy NCBI curation 16 Feb 2016 6708 SPTA1 C0037889 Hereditary spherocytosis NCBI curation 16 Feb 2016 6708 SPTA1 C0013902 Hereditary elliptocytosis 16 Feb 2016 6710 SPTB C0013902 Hereditary elliptocytosis 16 Feb 2016 6710 SPTB C0037889 Hereditary spherocytosis NCBI curation 16 Feb 2016 8878 SQSTM1 C4085251 Paget disease of bone 2, early-onset NCBI curation 602080 17 May 2016 79644 SRD5A3 C0282577 Congenital disorder of glycosylation Orphanet ORPHA137 16 Feb 2016 6736 SRY C2936420 46,XX testicular disorder of sex development 16 Feb 2016 6736 SRY C2936694 Pure gonadal dysgenesis 46,XY NCBI curation 16 Feb 2016 6770 STAR C0001627 Congenital adrenal hyperplasia Human Phenotype Ontology HP:0008258 16 Feb 2016 6770 STAR C0014130 Disorder of endocrine system NCBI curation 16 Feb 2016 6775 STAT4 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 16 Feb 2016 6491 STIL C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 6794 STK11 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 6794 STK11 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 6794 STK11 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 6794 STK11 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 6794 STK11 C0006142 Familial cancer of breast NCBI curation 114480 16 Feb 2016 79991 STN1 C2677299 Cerebroretinal microangiopathy with calcifications and cysts NCBI curation 01 Jul 2017 161497 STRC CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 161497 STRC CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 161497 STRC C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 8676 STX11 C0272199 Familial hemophagocytic lymphohistiocytosis NCBI curation 16 Feb 2016 6813 STXBP2 C0272199 Familial hemophagocytic lymphohistiocytosis NCBI curation 16 Feb 2016 8803 SUCLA2 C4707428 Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form 16 Feb 2016 8803 SUCLA2 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 8803 SUCLA2 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 8803 SUCLA2 CN043632 Mitochondrial DNA Deletion Syndromes 16 Feb 2016 8802 SUCLG1 CN043632 Mitochondrial DNA Deletion Syndromes 16 Feb 2016 8802 SUCLG1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 8802 SUCLG1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 8802 SUCLG1 C4707428 Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form 16 Feb 2016 51684 SUFU C0017638 Glioma OMIM phenotypic series PS137800 16 Feb 2016 51684 SUFU C0017638 Glioma Human Phenotype Ontology HP:0009733 16 Feb 2016 7341 SUMO1 C3266076 Orofacial cleft OMIM phenotypic series PS119530 16 Feb 2016 6834 SURF1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 6834 SURF1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 51204 TACO1 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 51204 TACO1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 23435 TARDBP C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 23435 TARDBP C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 80222 TARS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 6901 TAZ C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 6901 TAZ C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 6901 TAZ C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 128637 TBC1D20 CN158709 Warburg micro syndrome OMIM phenotypic series PS600118 16 Feb 2016 55773 TBC1D23 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 90665 TBL1Y CN262180 Deafness, Y-linked OMIM phenotypic series PS400043 11 Aug 2019 6908 TBP C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 10716 TBR1 C1510586 Autism spectrum disorder MONDO MONDO:0005258 06 Jul 2018 57057 TBX20 C0018817 Atrial septal defect OMIM phenotypic series PS108800 16 Feb 2016 57057 TBX20 C0018817 Atrial septal defect Human Phenotype Ontology HP:0001631 16 Feb 2016 6911 TBX6 C0265343 Jarcho-Levin syndrome NCBI curation 16 Feb 2016 8557 TCAP C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 8557 TCAP C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 8557 TCAP C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 8557 TCAP C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 8557 TCAP C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 8557 TCAP C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 8557 TCAP C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 6938 TCF12 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 6949 TCOF1 C0242387 Treacher Collins syndrome OMIM phenotypic series PS154500 16 Feb 2016 79600 TCTN1 C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 79867 TCTN2 C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 7007 TECTA C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 7007 TECTA C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 7007 TECTA CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 7007 TECTA CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 7007 TECTA CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 7007 TECTA CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 7012 TERC C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 7015 TERT C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 7015 TERT C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 7015 TERT C0151779 Malignant melanoma of skin NCBI curation 16 Feb 2016 7015 TERT C1512419 Hereditary cutaneous melanoma NCBI curation 16 Feb 2016 7015 TERT C0025202 Cutaneous melanoma Human Phenotype Ontology HP:0012056 10 May 2018 7036 TFR2 C0392514 Hereditary hemochromatosis NCBI curation 16 Feb 2016 7040 TGFB1 CN118946 Ashkenazi Jewish disorders NCBI curation 16 Feb 2016 7042 TGFB2 C2697932 Loeys-Dietz syndrome OMIM phenotypic series PS609192 16 Feb 2016 7043 TGFB3 C0349788 Arrhythmogenic right ventricular cardiomyopathy NCBI curation 16 Feb 2016 7043 TGFB3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7046 TGFBR1 C2697932 Loeys-Dietz syndrome OMIM phenotypic series PS609192 16 Feb 2016 7046 TGFBR1 CN078214 Familial aortopathy NCBI curation 16 Feb 2016 7048 TGFBR2 C2697932 Loeys-Dietz syndrome OMIM phenotypic series PS609192 16 Feb 2016 7048 TGFBR2 CN280943 COLORECTAL CANCER NCBI curation 22 May 2020 7048 TGFBR2 C4552100 Lynch syndrome NCBI curation Lynch syndrome 16 Feb 2016 7048 TGFBR2 C0009402 Carcinoma of colon NCBI curation 16 Feb 2016 7050 TGIF1 C0079541 Holoprosencephaly sequence NCBI curation 16 Feb 2016 7051 TGM1 C0020758 Congenital ichthyosis of skin NCBI curation 16 Feb 2016 7056 THBD C2931788 Atypical hemolytic uremic syndrome NCBI curation 16 Feb 2016 7056 THBD C0019061 Hemolytic-uremic syndrome Human Phenotype Ontology HP:0005575 10 Apr 2018 1678 TIMM8A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 26277 TINF2 C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 26277 TINF2 C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 7092 TLL1 C0018817 Atrial septal defect OMIM phenotypic series PS108800 16 Feb 2016 7092 TLL1 C0018817 Atrial septal defect Human Phenotype Ontology HP:0001631 16 Feb 2016 7100 TLR5 C0024141 Systemic lupus erythematosus Human Phenotype Ontology HP:0002725 152700 16 Feb 2016 117531 TMC1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 117531 TMC1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 117531 TMC1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 117531 TMC1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 117531 TMC1 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 117531 TMC1 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 51259 TMEM216 C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 51259 TMEM216 C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 79188 TMEM43 C0349788 Arrhythmogenic right ventricular cardiomyopathy NCBI curation 16 Feb 2016 79188 TMEM43 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 91147 TMEM67 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 91147 TMEM67 C0431399 Joubert syndrome OMIM phenotypic series PS213300 28 Mar 2017 91147 TMEM67 C0265215 Meckel-Gruber syndrome NCBI curation 26 Dec 2016 91147 TMEM67 C0687120 Nephronophthisis OMIM phenotypic series PS256100 16 Feb 2016 91147 TMEM67 C0687120 Nephronophthisis Human Phenotype Ontology HP:0000090 16 Feb 2016 54968 TMEM70 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 54968 TMEM70 C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 54968 TMEM70 C0342779 Complex V deficiency NCBI curation 16 Feb 2016 259236 TMIE C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 259236 TMIE CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 259236 TMIE CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 7112 TMPO C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 64699 TMPRSS3 CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 64699 TMPRSS3 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 64699 TMPRSS3 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 7134 TNNC1 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 7134 TNNC1 C0007193 Primary dilated cardiomyopathy NCBI curation 16 Feb 2016 7134 TNNC1 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 7134 TNNC1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7134 TNNC1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7136 TNNI2 C0265213 Distal arthrogryposis Human Phenotype Ontology HP:0005684 16 Feb 2016 7137 TNNI3 C0340429 Familial restrictive cardiomyopathy OMIM phenotypic series PS115210 16 Feb 2016 7137 TNNI3 C0007193 Primary dilated cardiomyopathy NCBI curation 16 Feb 2016 7137 TNNI3 C0007193 Primary dilated cardiomyopathy NCBI curation 16 Feb 2016 7137 TNNI3 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 7137 TNNI3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7137 TNNI3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7137 TNNI3 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7137 TNNI3 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 7137 TNNI3 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 7138 TNNT1 C0206157 Nemaline myopathy OMIM phenotypic series PS161800 16 Feb 2016 7139 TNNT2 C0340429 Familial restrictive cardiomyopathy OMIM phenotypic series PS115210 16 Feb 2016 7139 TNNT2 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 7139 TNNT2 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 7139 TNNT2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7139 TNNT2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7139 TNNT2 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 23534 TNPO3 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 23534 TNPO3 CN043626 Limb-girdle muscular dystrophy autosomal dominant NCBI curation 27 Apr 2020 23534 TNPO3 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 10210 TOPORS C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 7157 TP53 C0085390 Li-Fraumeni syndrome OMIM phenotypic series PS151623 16 Feb 2016 7157 TP53 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 7157 TP53 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 7157 TP53 C0017638 Glioma OMIM phenotypic series PS137800 16 Feb 2016 7157 TP53 C0017638 Glioma Human Phenotype Ontology HP:0009733 16 Feb 2016 112858 TP53RK C0795949 Galloway-Mowat syndrome OMIM phenotypic series PS251300 24 Jul 2018 8626 TP63 C3266076 Orofacial cleft OMIM phenotypic series PS119530 16 Feb 2016 7168 TPM1 C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 7168 TPM1 C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 7168 TPM1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7168 TPM1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7168 TPM1 C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7169 TPM2 C0265213 Distal arthrogryposis Human Phenotype Ontology HP:0005684 16 Feb 2016 7169 TPM2 C1852085 Digitotalar dysmorphism NCBI curation 126050 05 Nov 2018 7169 TPM2 C0206157 Nemaline myopathy OMIM phenotypic series PS161800 16 Feb 2016 7170 TPM3 C0206157 Nemaline myopathy OMIM phenotypic series PS161800 16 Feb 2016 7173 TPO C0010308 Congenital hypothyroidism Human Phenotype Ontology HP:0000851 16 Feb 2016 1200 TPP1 C0027877 Neuronal ceroid lipofuscinosis NCBI curation 214200 16 Feb 2016 51002 TPRKB C0795949 Galloway-Mowat syndrome OMIM phenotypic series PS251300 24 Jul 2018 286262 TPRN CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 286262 TPRN CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 286262 TPRN C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 26146 TRAF3IP1 C0403553 Renal dysplasia and retinal aplasia NCBI curation 16 Feb 2016 60684 TRAPPC11 C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 60684 TRAPPC11 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 60684 TRAPPC11 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 11277 TREX1 C0393591 Aicardi Goutieres syndrome NCBI curation 16 Feb 2016 22954 TRIM32 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 22954 TRIM32 C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 22954 TRIM32 C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 22954 TRIM32 C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 11078 TRIOBP C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 11078 TRIOBP CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 11078 TRIOBP CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 9319 TRIP13 C1850343 Mosaic variegated aneuploidy syndrome Orphanet ORPHA1052 16 Aug 2017 9319 TRIP13 C1850343 Mosaic variegated aneuploidy syndrome OMIM phenotypic series PS257300 16 Aug 2017 54802 TRIT1 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 54931 TRMT10C CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 57570 TRMT5 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 7225 TRPC6 C1868672 Hereditary nephrotic syndrome NCBI curation 17 Aug 2016 7225 TRPC6 CN043612 Hereditary Nephrotic Syndromes, Autosomal Dominant 16 Feb 2016 7225 TRPC6 C0017668 Focal segmental glomerulosclerosis OMIM phenotypic series PS603278 16 Feb 2016 7225 TRPC6 C0017668 Focal segmental glomerulosclerosis Human Phenotype Ontology HP:0000097 16 Feb 2016 4308 TRPM1 C0339535 Congenital stationary night blindness Human Phenotype Ontology HP:0007642 16 Feb 2016 59341 TRPV4 C0270914 Charcot-Marie-Tooth disease, type 2 NCBI curation 16 Feb 2016 59341 TRPV4 C4275066 Familial avascular necrosis of the femoral head NCBI curation 28 Mar 2017 59341 TRPV4 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 7248 TSC1 C0041341 Tuberous sclerosis syndrome NCBI curation 16 Feb 2016 7249 TSC2 C0041341 Tuberous sclerosis syndrome NCBI curation 16 Feb 2016 116461 TSEN15 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 116461 TSEN15 C2932714 Pontocerebellar hypoplasia type 2 16 Feb 2016 80746 TSEN2 C2932714 Pontocerebellar hypoplasia type 2 16 Feb 2016 80746 TSEN2 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 79042 TSEN34 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 79042 TSEN34 C2932714 Pontocerebellar hypoplasia type 2 16 Feb 2016 283989 TSEN54 C2932714 Pontocerebellar hypoplasia type 2 16 Feb 2016 283989 TSEN54 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 283989 TSEN54 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 283989 TSEN54 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 10102 TSFM CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 7252 TSHB C0010308 Congenital hypothyroidism Human Phenotype Ontology HP:0000851 16 Feb 2016 7253 TSHR C0010308 Congenital hypothyroidism Human Phenotype Ontology HP:0000851 16 Feb 2016 23554 TSPAN12 CN118824 Familial exudative vitreoretinopathy, autosomal dominant NCBI curation 16 Feb 2016 90121 TSR2 C1260899 Diamond-Blackfan anemia OMIM phenotypic series PS105650 16 Feb 2016 79809 TTC21B C0265275 Jeune thoracic dystrophy 16 Feb 2016 83538 TTC25 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 123016 TTC8 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 123016 TTC8 C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 7273 TTN C0686353 Limb-girdle muscular dystrophy Orphanet ORPHA263 16 Feb 2016 7273 TTN C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 7273 TTN C0686353 Limb-girdle muscular dystrophy Human Phenotype Ontology HP:0006785 16 Feb 2016 7273 TTN C2931907 Limb-girdle muscular dystrophy, autosomal recessive NCBI curation 16 Feb 2016 7273 TTN C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 7273 TTN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7273 TTN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7273 TTN C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7846 TUBA1A C1955869 Malformation of cortical development NCBI curation 16 Feb 2016 7846 TUBA1A C0266463 Lissencephaly Human Phenotype Ontology HP:0001339 16 Feb 2016 7846 TUBA1A C0266463 Lissencephaly OMIM phenotypic series PS607432 16 Feb 2016 10381 TUBB3 CN043677 Congenital fibrosis of the extraocular muscles NCBI curation 16 Feb 2016 7284 TUFM CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 7287 TULP1 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 7287 TULP1 C0339527 Leber congenital amaurosis OMIM phenotypic series PS204000 04 Sep 2016 7291 TWIST1 C0010278 Craniosynostosis syndrome NCBI curation 16 Feb 2016 56652 TWNK C0751651 Mitochondrial diseases NCBI curation 16 Feb 2016 56652 TWNK CN043632 Mitochondrial DNA Deletion Syndromes 16 Feb 2016 56652 TWNK C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 56652 TWNK CN069134 Mitochondrial DNA depletion syndrome, hepatocerebral form NCBI curation 16 Feb 2016 56652 TWNK C0685838 Perrault syndrome OMIM phenotypic series PS233400 06 Apr 2018 56652 TWNK C0685838 Perrault syndrome Orphanet ORPHA2855 06 Apr 2018 25828 TXN2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 7299 TYR C0268494 Oculocutaneous albinism type 1 NCBI curation 16 Feb 2016 7299 TYR C0268494 Oculocutaneous albinism type 1 NCBI curation 16 Feb 2016 7299 TYR C0078918 Oculocutaneous albinism OMIM phenotypic series PS203100 16 Feb 2016 7299 TYR C0078918 Oculocutaneous albinism OMIM phenotypic series PS203100 16 Feb 2016 7306 TYRP1 C0078918 Oculocutaneous albinism OMIM phenotypic series PS203100 16 Feb 2016 7345 UCHL1 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 54658 UGT1A1 C0010324 Crigler-Najjar syndrome NCBI curation 16 Feb 2016 54658 UGT1A1 C0010324 Crigler-Najjar syndrome NCBI curation 16 Feb 2016 201294 UNC13D C0272199 Familial hemophagocytic lymphohistiocytosis NCBI curation 16 Feb 2016 10083 USH1C CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 10083 USH1C C1848638 Usher syndrome, type 1B 16 Feb 2016 10083 USH1C CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 10083 USH1C C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10083 USH1C C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10083 USH1C C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 10083 USH1C C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 124590 USH1G C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 124590 USH1G C1568247 Usher syndrome type 1 MONDO MONDO:0010168 276900 22 Apr 2020 7399 USH2A C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 7399 USH2A C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016 7399 USH2A C0339534 Usher syndrome type 2 16 Feb 2016 9217 VAPB C0002736 Amyotrophic lateral sclerosis Human Phenotype Ontology HP:0007354 16 Feb 2016 9217 VAPB C0002736 Amyotrophic lateral sclerosis OMIM phenotypic series PS105400 16 Feb 2016 57176 VARS2 CN228601 Combined oxidative phosphorylation deficiency OMIM phenotypic series PS609060 16 Feb 2016 7414 VCL C0340427 Familial dilated cardiomyopathy Orphanet ORPHA217607 16 Feb 2016 7414 VCL C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7414 VCL C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7414 VCL C0878544 Cardiomyopathy Human Phenotype Ontology HP:0001638 16 Feb 2016 7414 VCL C0949658 Primary familial hypertrophic cardiomyopathy NCBI curation 16 Feb 2016 7422 VEGFA CN357508 Microvascular complications of diabetes OMIM phenotypic series PS603933 31 Jul 2017 7428 VHL C0152264 Familial erythrocytosis NCBI curation 16 Feb 2016 55737 VPS35 C0030567 Parkinson disease OMIM phenotypic series PS168600 16 Feb 2016 11311 VPS45 C1853118 Severe congenital neutropenia Orphanet ORPHA42738 16 Feb 2016 55275 VPS53 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 55275 VPS53 C2932714 Pontocerebellar hypoplasia type 2 16 Feb 2016 7443 VRK1 C1261175 Pontoneocerebellar hypoplasia NCBI curation 16 Feb 2016 7443 VRK1 C1843504 Pontocerebellar hypoplasia type 1 Orphanet ORPHA2254 10 Sep 2018 338917 VSX2 CN120488 Anophthalmia-microphthalmia syndrome Orphanet ORPHA98555 01 Sep 2017 7450 VWF C0042974 von Willebrand disorder 16 Feb 2016 7454 WAS C1853118 Severe congenital neutropenia Orphanet ORPHA42738 16 Feb 2016 51057 WDPCP C0752166 Bardet-Biedl syndrome OMIM phenotypic series PS209900 16 Feb 2016 57728 WDR19 C0265275 Jeune thoracic dystrophy 16 Feb 2016 57728 WDR19 C0403553 Renal dysplasia and retinal aplasia NCBI curation 16 Feb 2016 57728 WDR19 CN119432 Cranioectodermal dysplasia OMIM phenotypic series PS218330 16 Feb 2016 57539 WDR35 CN119432 Cranioectodermal dysplasia OMIM phenotypic series PS218330 16 Feb 2016 134430 WDR36 C0017601 Glaucoma NCBI curation 16 Feb 2016 11152 WDR45 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 11152 WDR45 CN043643 Neurodegeneration with brain iron accumulation OMIM phenotypic series PS234200 16 Feb 2016 284403 WDR62 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 84942 WDR73 C0795949 Galloway-Mowat syndrome OMIM phenotypic series PS251300 24 Jul 2018 124997 WDR81 C0020256 Congenital hydrocephalus Orphanet ORPHA2185 27 Sep 2018 124997 WDR81 C0020255 Hydrocephalus Human Phenotype Ontology HP:0000238 16 Feb 2016 7466 WFS1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 7466 WFS1 CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 7466 WFS1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 7466 WFS1 C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 7466 WFS1 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 7466 WFS1 CN043649 Autosomal dominant non-syndromic sensorineural deafness type DFNA Orphanet ORPHA90635 22 Jan 2017 25861 WHRN CN043648 Nonsyndromic hearing loss and deafness NCBI curation 28 Apr 2017 25861 WHRN CN043650 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 16 Feb 2016 25861 WHRN C0339534 Usher syndrome type 2 16 Feb 2016 25861 WHRN C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 25861 WHRN C0236038 Hereditary hearing loss and deafness NCBI curation 16 Feb 2016 65125 WNK1 C1840389 Pseudohypoaldosteronism type 2A NCBI curation 145260 15 Jan 2020 65125 WNK1 C0020072 Hereditary sensory and autonomic neuropathy type II GeneReviews NBK49247 16 Feb 2016 65266 WNK4 C1840389 Pseudohypoaldosteronism type 2A NCBI curation 145260 15 Jan 2020 55135 WRAP53 C0265965 Dyskeratosis congenita OMIM phenotypic series PS127550 16 Feb 2016 7490 WT1 C0027708 Nephroblastoma Human Phenotype Ontology HP:0002667 16 Feb 2016 7490 WT1 C1868672 Hereditary nephrotic syndrome NCBI curation 17 Aug 2016 7490 WT1 CN043612 Hereditary Nephrotic Syndromes, Autosomal Dominant 16 Feb 2016 7498 XDH CN257747 Hereditary xanthinuria Orphanet ORPHA3467 29 Oct 2018 7507 XPA C0043346 Xeroderma pigmentosum NCBI curation 16 Feb 2016 7508 XPC C0043346 Xeroderma pigmentosum NCBI curation 16 Feb 2016 7517 XRCC3 C0151779 Malignant melanoma of skin NCBI curation 16 Feb 2016 7517 XRCC3 C1458155 Neoplasm of the breast Human Phenotype Ontology HP:0100013 18 Jul 2017 7517 XRCC3 C1512419 Hereditary cutaneous melanoma NCBI curation 16 Feb 2016 7517 XRCC3 C0025202 Cutaneous melanoma Human Phenotype Ontology HP:0012056 10 May 2018 8565 YARS1 C0007959 Charcot-Marie-Tooth disease OMIM phenotypic series PS118220 16 Feb 2016 51067 YARS2 C1838103 Mitochondrial myopathy and sideroblastic anemia Orphanet ORPHA2598 16 Feb 2016 463 ZFHX3 C0042065 Neoplasm of the genitourinary tract Human Phenotype Ontology HP:0007379 04 Apr 2018 346171 ZFP57 C0158981 Neonatal diabetes mellitus NCBI curation 16 Feb 2016 346171 ZFP57 C0342273 Transitory neonatal diabetes mellitus NCBI curation 16 Feb 2016 7546 ZIC2 C0079541 Holoprosencephaly sequence NCBI curation 16 Feb 2016 51364 ZMYND10 C0008780 Primary ciliary dyskinesia OMIM phenotypic series PS244400 20 Jul 2019 63925 ZNF335 C3711387 Primary autosomal recessive microcephaly NCBI curation 16 Feb 2016 130557 ZNF513 C0035334 Retinitis pigmentosa OMIM phenotypic series PS268000 268000 16 Feb 2016