Human Phenotype Ontology 
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Clinical course (HP:0031797)help
Parent Node:
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Onset (HP:0003674)help
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Adult onset (HP:0003581)help
Term ID: 3581
Name: Adult onset
Synonym: Onset in adulthood; Onset in early adulthood; Symptoms begin in adulthood
Definition: Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
Comments:
Reference: HP:0003581
Genes and Diseases:
 
       Child Nodes:
........expandLate onset (HP:0003584) help
........expandMiddle age onset (HP:0003596) help
........expandYoung adult onset (HP:0011462) help

 Sister Nodes: 
..expandAntenatal onset (HP:0030674) help
..expandChildhood onset (HP:0011463) help
..expandCongenital onset (HP:0003577) help
..expandInfantile onset (HP:0003593) help
..expandJuvenile onset (HP:0003621) help
..expandNeonatal onset (HP:0003623) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003581HP:0003581Adult onset0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0003581HP:0003581Adult onset0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0003581HP:0003581Adult onset0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003581HP:0003581Adult onset0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0003581HP:0003581Adult onset0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0003581HP:0003581Adult onset0ABCA7 CL E G H1034737OMIM:608907Alzheimer disease 9, susceptibility to3
HP:0003581HP:0003581Adult onset0ABCB4 CL E G H524445OMIM:600803Gallbladder disease 1111
HP:0003581HP:0003581Adult onset0ABCC1 CL E G H436351OMIM:618915DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA7722
HP:0003581HP:0003581Adult onset0ABCC8 CL E G H683359OMIM:125853Diabetes mellitus, noninsulin-dependent245
HP:0003581HP:0003581Adult onset0ABCC9 CL E G H1006060OMIM:614050Atrial fibrillation, familial, 12254
HP:0003581HP:0003581Adult onset0ABCC9 CL E G H1006060OMIM:608569CARDIOMYOPATHY, DILATED, 1O; CMD1O254
HP:0003581HP:0003581Adult onset0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0003581HP:0003581Adult onset0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0003581HP:0003581Adult onset0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003581HP:0003581Adult onset0ACTC1 CL E G H70143OMIM:613424Cardiomyopathy, dilated, 1R208
HP:0003581HP:0003581Adult onset0ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11208
HP:0003581HP:0003581Adult onset0ACTG1 CL E G H71144OMIM:604717Deafness, autosomal dominant 20123
HP:0003581HP:0003581Adult onset0ACTN2 CL E G H88164OMIM:612158Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction307
HP:0003581HP:0003581Adult onset0ADGRG2 CL E G H101494516OMIM:300985Vas deferens, congenital bilateral aplasia of, X-linked5
HP:0003581HP:0003581Adult onset0ADH1C CL E G H126251OMIM:168600Parkinson disease, late-onset4
HP:0003581HP:0003581Adult onset0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 2886
HP:0003581HP:0003581Adult onset0AGBL1 CL E G H12362426504OMIM:615523Corneal dystrophy, fuchs endothelial, 83
HP:0003581HP:0003581Adult onset0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0003581HP:0003581Adult onset0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0003581HP:0003581Adult onset0AKT2 CL E G H208392OMIM:125853Diabetes mellitus, noninsulin-dependent12
HP:0003581HP:0003581Adult onset0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0003581HP:0003581Adult onset0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0003581HP:0003581Adult onset0ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0003581HP:0003581Adult onset0ALG5 CL E G H2988020266OMIM:620056
HP:0003581HP:0003581Adult onset0ALOX5AP CL E G H241436OMIM:601367STROKE, ISCHEMIC1
HP:0003581HP:0003581Adult onset0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0003581HP:0003581Adult onset0ANKH CL E G H5617215492OMIM:118600Chondrocalcinosis 2.164
HP:0003581HP:0003581Adult onset0ANLN CL E G H5444314082OMIM:616032Focal segmental glomerulosclerosis 86
HP:0003581HP:0003581Adult onset0ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0003581HP:0003581Adult onset0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0003581HP:0003581Adult onset0ANXA11 CL E G H311535OMIM:617839Amyotrophic lateral sclerosis 23
HP:0003581HP:0003581Adult onset0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003581HP:0003581Adult onset0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0003581HP:0003581Adult onset0APC CL E G H324583OMIM:135290Desmoid disease, hereditary3179
HP:0003581HP:0003581Adult onset0APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0003581HP:0003581Adult onset0APOE CL E G H348613OMIM:104310Alzheimer disease 239
HP:0003581HP:0003581Adult onset0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0003581HP:0003581Adult onset0APOE CL E G H348613OMIM:606889Alzheimer disease 439
HP:0003581HP:0003581Adult onset0APOE CL E G H348613OMIM:603075Macular degeneration, age-related, 139
HP:0003581HP:0003581Adult onset0APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease39
HP:0003581HP:0003581Adult onset0APP CL E G H351620OMIM:104300Alzheimer disease74
HP:0003581HP:0003581Adult onset0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0003581HP:0003581Adult onset0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0003581HP:0003581Adult onset0ARHGEF10 CL E G H963914103OMIM:608236Slowed nerve conduction velocity, autosomal dominant.12
HP:0003581HP:0003581Adult onset0ARMC5 CL E G H7979825781OMIM:615954ACTH-independent macronodular adrenal hyperplasia 27
HP:0003581HP:0003581Adult onset0ASTL CL E G H43170531704OMIM:619643OOCYTE MATURATION DEFECT 11; OOMD11
HP:0003581HP:0003581Adult onset0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID.71
HP:0003581HP:0003581Adult onset0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0003581HP:0003581Adult onset0ATP11A CL E G H2325013552OMIM:619810DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0003581HP:0003581Adult onset0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0003581HP:0003581Adult onset0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0003581HP:0003581Adult onset0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD4
HP:0003581HP:0003581Adult onset0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0003581HP:0003581Adult onset0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0003581HP:0003581Adult onset0ATP2B2 CL E G H491815OMIM:619804DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA825
HP:0003581HP:0003581Adult onset0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0003581HP:0003581Adult onset0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linked36
HP:0003581HP:0003581Adult onset0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0003581HP:0003581Adult onset0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0003581HP:0003581Adult onset0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0003581HP:0003581Adult onset0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0003581HP:0003581Adult onset0ATXN2 CL E G H631110555OMIM:168600Parkinson disease, late-onset11
HP:0003581HP:0003581Adult onset0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0003581HP:0003581Adult onset0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0003581HP:0003581Adult onset0ATXN8OS CL E G H631510561OMIM:168600Parkinson disease, late-onset1
HP:0003581HP:0003581Adult onset0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0003581HP:0003581Adult onset0AURKC CL E G H679511391OMIM:243060Male infertility with large-headed, multiflagellar, polyploid spermatozoa12
HP:0003581HP:0003581Adult onset0B2M CL E G H567914OMIM:241600Immunodeficiency 438
HP:0003581HP:0003581Adult onset0BAG3 CL E G H9531939OMIM:613881Cardiomyopathy, dilated, 1hh204
HP:0003581HP:0003581Adult onset0BAG5 CL E G H9529941OMIM:619747CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0003581HP:0003581Adult onset0BAP1 CL E G H8314950OMIM:606661MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2184
HP:0003581HP:0003581Adult onset0BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome184
HP:0003581HP:0003581Adult onset0BCL10 CL E G H8915989OMIM:137245Gastric lymphoma, primary18
HP:0003581HP:0003581Adult onset0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 311
HP:0003581HP:0003581Adult onset0BLK CL E G H6401057OMIM:613375Maturity-onset diabetes of the young, type 1175
HP:0003581HP:0003581Adult onset0BLVRA CL E G H6441062OMIM:614156Hyperbiliverdinemia2
HP:0003581HP:0003581Adult onset0BMPR2 CL E G H6591078OMIM:178600Pulmonary hypertension, primary, 1525
HP:0003581HP:0003581Adult onset0BPGM CL E G H6691093OMIM:222800Erythrocytosis, familial, 82
HP:0003581HP:0003581Adult onset0BPY2 CL E G H908313508OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0BRCA1 CL E G H6721100OMIM:604370Breast-Ovarian cancer, familial, susceptibility to, 15769
HP:0003581HP:0003581Adult onset0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003581HP:0003581Adult onset0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0003581HP:0003581Adult onset0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0003581HP:0003581Adult onset0C14ORF39 CL E G H31776119849OMIM:619203PREMATURE OVARIAN FAILURE 18; POF18
HP:0003581HP:0003581Adult onset0C14ORF39 CL E G H31776119849OMIM:619202SPERMATOGENIC FAILURE 52; SPGF52
HP:0003581HP:0003581Adult onset0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0003581HP:0003581Adult onset0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33HP:0040284 - Very rare
HP:0003581HP:0003581Adult onset0C2CD6 CL E G H15125414438OMIM:619805SPERMATOGENIC FAILURE 68; SPGF681
HP:0003581HP:0003581Adult onset0C3 CL E G H7181318OMIM:612925Hemolytic uremic syndrome, atypical, susceptibility to, 592
HP:0003581HP:0003581Adult onset0C9 CL E G H7351358OMIM:615591MACULAR DEGENERATION, AGE-RELATED, 15; ARMD1510
HP:0003581HP:0003581Adult onset0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0003581HP:0003581Adult onset0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1449
HP:0003581HP:0003581Adult onset0CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0003581HP:0003581Adult onset0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0003581HP:0003581Adult onset0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5146
HP:0003581HP:0003581Adult onset0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003581HP:0003581Adult onset0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4.323
HP:0003581HP:0003581Adult onset0CARD9 CL E G H6417016391OMIM:212050Candidiasis, familial chronic mucocutaneous, autosomal recessive45
HP:0003581HP:0003581Adult onset0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0003581HP:0003581Adult onset0CASQ2 CL E G H8451513OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1129
HP:0003581HP:0003581Adult onset0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0003581HP:0003581Adult onset0CATIP CL E G H37530725062OMIM:619379SPERMATOGENIC FAILURE 54; SPGF54
HP:0003581HP:0003581Adult onset0CATSPER1 CL E G H11714417116OMIM:612997Spermatogenic failure 745
HP:0003581HP:0003581Adult onset0CATSPER2 CL E G H11715518810OMIM:612997Spermatogenic failure 712
HP:0003581HP:0003581Adult onset0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0003581HP:0003581Adult onset0CAV1 CL E G H8571527OMIM:615343Pulmonary hypertension, primary, 311
HP:0003581HP:0003581Adult onset0CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0003581HP:0003581Adult onset0CAV3 CL E G H8591529OMIM:606072Rippling muscle diseaseHP:0040282 - Frequent148
HP:0003581HP:0003581Adult onset0CC2D2A CL E G H5754529253OMIM:619845RETINITIS PIGMENTOSA 93; RP93247
HP:0003581HP:0003581Adult onset0CCDC34 CL E G H9105725079OMIM:620084
HP:0003581HP:0003581Adult onset0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0003581HP:0003581Adult onset0CCDC62 CL E G H8466030723OMIM:619803SPERMATOGENIC FAILURE 67; SPGF67
HP:0003581HP:0003581Adult onset0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0003581HP:0003581Adult onset0CCND1 CL E G H5951582OMIM:254500Multiple myeloma1
HP:0003581HP:0003581Adult onset0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0003581HP:0003581Adult onset0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0003581HP:0003581Adult onset0CD164 CL E G H87631632OMIM:616969DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA661
HP:0003581HP:0003581Adult onset0CDH1 CL E G H9991748OMIM:137215Gastric cancer, hereditary diffuse1003
HP:0003581HP:0003581Adult onset0CDH2 CL E G H10001759OMIM:618920ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0003581HP:0003581Adult onset0CDH23 CL E G H6407213733OMIM:617540Pituitary adenoma 5, multiple types.636
HP:0003581HP:0003581Adult onset0CDY1 CL E G H90851809OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0CDY2A CL E G H94261810OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain3
HP:0003581HP:0003581Adult onset0CEP78 CL E G H8413125740OMIM:617236CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL9
HP:0003581HP:0003581Adult onset0CFAP43 CL E G H8021726684OMIM:617592Spermatogenic failure 196
HP:0003581HP:0003581Adult onset0CFAP44 CL E G H5577925631OMIM:617593Spermatogenic failure 201
HP:0003581HP:0003581Adult onset0CFAP58 CL E G H15968626676OMIM:619144SPERMATOGENIC FAILURE 49; SPGF49
HP:0003581HP:0003581Adult onset0CFH CL E G H30754883OMIM:610698Macular degeneration, age-related, 486
HP:0003581HP:0003581Adult onset0CFHR1 CL E G H30784888OMIM:603075Macular degeneration, age-related, 1
HP:0003581HP:0003581Adult onset0CFHR3 CL E G H1087816980OMIM:603075Macular degeneration, age-related, 1
HP:0003581HP:0003581Adult onset0CFI CL E G H34265394OMIM:612923Hemolytic uremic syndrome, atypical, susceptibility to, 357
HP:0003581HP:0003581Adult onset0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 211
HP:0003581HP:0003581Adult onset0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type11
HP:0003581HP:0003581Adult onset0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0003581HP:0003581Adult onset0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003581HP:0003581Adult onset0CHRNA2 CL E G H11351956OMIM:610353Epilepsy, nocturnal frontal lobe, 4188
HP:0003581HP:0003581Adult onset0CLCN1 CL E G H11802019OMIM:160800Myotonia congenita, autosomal dominant133
HP:0003581HP:0003581Adult onset0CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive133
HP:0003581HP:0003581Adult onset0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0003581HP:0003581Adult onset0CLEC3B CL E G H712311891OMIM:619977
HP:0003581HP:0003581Adult onset0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0003581HP:0003581Adult onset0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0003581HP:0003581Adult onset0COCH CL E G H16902180OMIM:601369Deafness, autosomal dominant 946
HP:0003581HP:0003581Adult onset0COL2A1 CL E G H12802200OMIM:608805Avascular necrosis of femoral head, primary, 1284
HP:0003581HP:0003581Adult onset0COL4A1 CL E G H12822202OMIM:618564MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL193
HP:0003581HP:0003581Adult onset0COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of193
HP:0003581HP:0003581Adult onset0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0003581HP:0003581Adult onset0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0003581HP:0003581Adult onset0CORIN CL E G H1069919012OMIM:614595Preeclampsia/eclampsia 55
HP:0003581HP:0003581Adult onset0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0003581HP:0003581Adult onset0CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0003581HP:0003581Adult onset0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant.1
HP:0003581HP:0003581Adult onset0CPT2 CL E G H13762330OMIM:255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced101
HP:0003581HP:0003581Adult onset0CRYAB CL E G H14102389OMIM:615184Cardiomyopathy, dilated, 1ii46
HP:0003581HP:0003581Adult onset0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0003581HP:0003581Adult onset0CSF1R CL E G H14362433OMIM:221820Leukoencephalopathy, diffuse hereditary, with spheroids.149
HP:0003581HP:0003581Adult onset0CSRP3 CL E G H80482472OMIM:607482CARDIOMYOPATHY, DILATED, 1M; CMD1M104
HP:0003581HP:0003581Adult onset0CSRP3 CL E G H80482472OMIM:612124Cardiomyopathy, familial hypertrophic, 12104
HP:0003581HP:0003581Adult onset0CTNS CL E G H14972518OMIM:219750Cystinosis, adult nonnephropathic178
HP:0003581HP:0003581Adult onset0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0003581HP:0003581Adult onset0CYLD CL E G H15402584OMIM:605041Brooke-Spiegler syndrome.126
HP:0003581HP:0003581Adult onset0CYLD CL E G H15402584OMIM:132700Cylindromatosis, familial.126
HP:0003581HP:0003581Adult onset0CYLD CL E G H15402584OMIM:619132FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8126
HP:0003581HP:0003581Adult onset0CYLD CL E G H15402584OMIM:601606Trichoepithelioma, multiple familial, 1.126
HP:0003581HP:0003581Adult onset0CYP11B1 CL E G H15842591OMIM:103900Glucocorticoid-Remediable aldosteronism112
HP:0003581HP:0003581Adult onset0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0003581HP:0003581Adult onset0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0003581HP:0003581Adult onset0DAZ1 CL E G H16172682OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0DAZ2 CL E G H5705515964OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0DAZ3 CL E G H5705415965OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0DCTN1 CL E G H16392711OMIM:105400Amyotrophic lateral sclerosis 186
HP:0003581HP:0003581Adult onset0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0003581HP:0003581Adult onset0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0003581HP:0003581Adult onset0DDX3Y CL E G H86532699OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to.23
HP:0003581HP:0003581Adult onset0DES CL E G H16742770OMIM:604765CARDIOMYOPATHY, DILATED, 1I; CMD1I263
HP:0003581HP:0003581Adult onset0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0003581HP:0003581Adult onset0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0003581HP:0003581Adult onset0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0003581HP:0003581Adult onset0DIAPH2 CL E G H17302877OMIM:300511Premature ovarian failure 2A6
HP:0003581HP:0003581Adult onset0DIAPH3 CL E G H8162415480OMIM:609129Auditory neuropathy, autosomal dominant, 18
HP:0003581HP:0003581Adult onset0DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type.1496
HP:0003581HP:0003581Adult onset0DNAH17 CL E G H86322946OMIM:618643SPERMATOGENIC FAILURE 39; SPGF3937
HP:0003581HP:0003581Adult onset0DNAH8 CL E G H17692952OMIM:619095SPERMATOGENIC FAILURE 46; SPGF46153
HP:0003581HP:0003581Adult onset0DNAJB11 CL E G H5172614889OMIM:618061Polycystic kidney disease 6 with or without polycystic liver disease.
HP:0003581HP:0003581Adult onset0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E.103
HP:0003581HP:0003581Adult onset0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0003581HP:0003581Adult onset0DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0003581HP:0003581Adult onset0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0003581HP:0003581Adult onset0DNHD1 CL E G H14413226532OMIM:619712SPERMATOGENIC FAILURE 65; SPGF65
HP:0003581HP:0003581Adult onset0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0003581HP:0003581Adult onset0DNMT3B CL E G H17892979OMIM:619478FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD479
HP:0003581HP:0003581Adult onset0DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0003581HP:0003581Adult onset0DPY19L2 CL E G H28341719414OMIM:613958Spermatogenic failure 917
HP:0003581HP:0003581Adult onset0DRD5 CL E G H18163026OMIM:606798Blepharospasm, benign essential, susceptibility to3
HP:0003581HP:0003581Adult onset0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0003581HP:0003581Adult onset0DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0003581HP:0003581Adult onset0DSG2 CL E G H18293049OMIM:612877CARDIOMYOPATHY, DILATED, 1BB; CMD1BB358
HP:0003581HP:0003581Adult onset0DSP CL E G H18323052OMIM:607450Arrhythmogenic right ventricular dysplasia, familial, 8747
HP:0003581HP:0003581Adult onset0DTNA CL E G H18373057OMIM:604169Left ventricular noncompaction 1163
HP:0003581HP:0003581Adult onset0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1HP:0040282 - Frequent600
HP:0003581HP:0003581Adult onset0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0003581HP:0003581Adult onset0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0003581HP:0003581Adult onset0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0003581HP:0003581Adult onset0EIF2AK4 CL E G H44027519687OMIM:234810PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD240
HP:0003581HP:0003581Adult onset0ELMOD3 CL E G H8417326158OMIM:619500DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA811
HP:0003581HP:0003581Adult onset0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0003581HP:0003581Adult onset0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0003581HP:0003581Adult onset0ENO3 CL E G H20273354OMIM:612932Glycogen storage disease XIII.34
HP:0003581HP:0003581Adult onset0ENPP1 CL E G H51673356OMIM:125853Diabetes mellitus, noninsulin-dependent151
HP:0003581HP:0003581Adult onset0EPAS1 CL E G H20343374OMIM:611783ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4112
HP:0003581HP:0003581Adult onset0EPCAM CL E G H407211529OMIM:613244Colorectal cancer, hereditary nonpolyposis, type 8170
HP:0003581HP:0003581Adult onset0ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 19.15
HP:0003581HP:0003581Adult onset0ERCC6 CL E G H20743438OMIM:616946PREMATURE OVARIAN FAILURE 11; POF11199
HP:0003581HP:0003581Adult onset0F2 CL E G H21473535OMIM:601367STROKE, ISCHEMIC44
HP:0003581HP:0003581Adult onset0F5 CL E G H21533542OMIM:600880Budd-Chiari syndrome159
HP:0003581HP:0003581Adult onset0F5 CL E G H21533542OMIM:614389Pregnancy loss, recurrent, susceptibility to, 1159
HP:0003581HP:0003581Adult onset0F5 CL E G H21533542OMIM:601367STROKE, ISCHEMIC159
HP:0003581HP:0003581Adult onset0F5 CL E G H21533542OMIM:188055Thrombophilia due to deficiency of activated protein C cofactor.159
HP:0003581HP:0003581Adult onset0F8 CL E G H21573546OMIM:301071THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13303
HP:0003581HP:0003581Adult onset0FAT2 CL E G H21963596OMIM:617769Spinocerebellar ataxia 45.2
HP:0003581HP:0003581Adult onset0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0003581HP:0003581Adult onset0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0003581HP:0003581Adult onset0FBN1 CL E G H22003603OMIM:129600ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL11361
HP:0003581HP:0003581Adult onset0FBXO43 CL E G H28615128521OMIM:619696SPERMATOGENIC FAILURE 64; SPGF64
HP:0003581HP:0003581Adult onset0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0003581HP:0003581Adult onset0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0003581HP:0003581Adult onset0FHOD3 CL E G H8020626178OMIM:619402CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0003581HP:0003581Adult onset0FIG4 CL E G H989616873OMIM:612577Amyotrophic lateral sclerosis 11111
HP:0003581HP:0003581Adult onset0FKBP6 CL E G H84683722OMIM:620103
HP:0003581HP:0003581Adult onset0FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0003581HP:0003581Adult onset0FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0003581HP:0003581Adult onset0FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant.197
HP:0003581HP:0003581Adult onset0FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4197
HP:0003581HP:0003581Adult onset0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0003581HP:0003581Adult onset0FMR1 CL E G H23323775OMIM:311360Premature ovarian failure 130
HP:0003581HP:0003581Adult onset0FN1 CL E G H23353778OMIM:601894Glomerulopathy with fibronectin deposits 29
HP:0003581HP:0003581Adult onset0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0003581HP:0003581Adult onset0FOXE3 CL E G H23013808OMIM:617349AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT1123
HP:0003581HP:0003581Adult onset0FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmia23
HP:0003581HP:0003581Adult onset0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0003581HP:0003581Adult onset0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1109
HP:0003581HP:0003581Adult onset0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0003581HP:0003581Adult onset0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0003581HP:0003581Adult onset0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0003581HP:0003581Adult onset0GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 36
HP:0003581HP:0003581Adult onset0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003581HP:0003581Adult onset0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0003581HP:0003581Adult onset0GATAD1 CL E G H5779829941OMIM:614672Cardiomyopathy, dilated, 2B35
HP:0003581HP:0003581Adult onset0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0003581HP:0003581Adult onset0GBA1 CL E G H26294177OMIM:168600Parkinson disease, late-onset
HP:0003581HP:0003581Adult onset0GBE1 CL E G H26324180OMIM:263570Polyglucosan body neuropathy, adult form.86
HP:0003581HP:0003581Adult onset0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003581HP:0003581Adult onset0GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0003581HP:0003581Adult onset0GCK CL E G H26454195OMIM:125853Diabetes mellitus, noninsulin-dependent237
HP:0003581HP:0003581Adult onset0GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3237
HP:0003581HP:0003581Adult onset0GCNA CL E G H9395315805OMIM:301077SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0003581HP:0003581Adult onset0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0003581HP:0003581Adult onset0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0003581HP:0003581Adult onset0GGCX CL E G H26774247OMIM:610842PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY129
HP:0003581HP:0003581Adult onset0GGN CL E G H19972018869OMIM:619826SPERMATOGENIC FAILURE 69; SPGF69
HP:0003581HP:0003581Adult onset0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0003581HP:0003581Adult onset0GJA5 CL E G H27024279OMIM:614049Atrial fibrillation, familial, 1139
HP:0003581HP:0003581Adult onset0GLUD2 CL E G H27474336OMIM:168600Parkinson disease, late-onset1
HP:0003581HP:0003581Adult onset0GNAI2 CL E G H27714385OMIM:192605Ventricular tachycardia, familial4
HP:0003581HP:0003581Adult onset0GNAL CL E G H27744388OMIM:615073Dystonia 2513
HP:0003581HP:0003581Adult onset0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0003581HP:0003581Adult onset0GNE CL E G H1002023657OMIM:605820Nonaka myopathy.173
HP:0003581HP:0003581Adult onset0GPD2 CL E G H28204456OMIM:125853Diabetes mellitus, noninsulin-dependent3
HP:0003581HP:0003581Adult onset0GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID12
HP:0003581HP:0003581Adult onset0GRN CL E G H28964601OMIM:614706Ceroid lipofuscinosis, neuronal, 11126
HP:0003581HP:0003581Adult onset0GSN CL E G H29344620OMIM:105120Amyloidosis, Finnish type.53
HP:0003581HP:0003581Adult onset0GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV18
HP:0003581HP:0003581Adult onset0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0003581HP:0003581Adult onset0H6PD CL E G H95634795OMIM:604931Cortisone reductase deficiency 18
HP:0003581HP:0003581Adult onset0HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B15
HP:0003581HP:0003581Adult onset0HAVCR2 CL E G H8486818437OMIM:618398T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003581HP:0003581Adult onset0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0003581HP:0003581Adult onset0HFE CL E G H30774886OMIM:104300Alzheimer disease38
HP:0003581HP:0003581Adult onset0HFE CL E G H30774886OMIM:176200Porphyria variegata38
HP:0003581HP:0003581Adult onset0HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0003581HP:0003581Adult onset0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0003581HP:0003581Adult onset0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0003581HP:0003581Adult onset0HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 7911
HP:0003581HP:0003581Adult onset0HKDC1 CL E G H8020123302OMIM:619614RETINITIS PIGMENTOSA 92; RP922
HP:0003581HP:0003581Adult onset0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0003581HP:0003581Adult onset0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to
HP:0003581HP:0003581Adult onset0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to2
HP:0003581HP:0003581Adult onset0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0003581HP:0003581Adult onset0HMCN1 CL E G H8387219194OMIM:603075Macular degeneration, age-related, 1262
HP:0003581HP:0003581Adult onset0HMGA1 CL E G H31595010OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0003581HP:0003581Adult onset0HNF1A CL E G H692711621OMIM:125853Diabetes mellitus, noninsulin-dependent161
HP:0003581HP:0003581Adult onset0HNF1B CL E G H692811630OMIM:125853Diabetes mellitus, noninsulin-dependent90
HP:0003581HP:0003581Adult onset0HNF4A CL E G H31725024OMIM:125853Diabetes mellitus, noninsulin-dependent138
HP:0003581HP:0003581Adult onset0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0003581HP:0003581Adult onset0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0003581HP:0003581Adult onset0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0003581HP:0003581Adult onset0HSFY1 CL E G H8661418568OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED1
HP:0003581HP:0003581Adult onset0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0003581HP:0003581Adult onset0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003581HP:0003581Adult onset0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L38
HP:0003581HP:0003581Adult onset0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0003581HP:0003581Adult onset0HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0003581HP:0003581Adult onset0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0003581HP:0003581Adult onset0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0003581HP:0003581Adult onset0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0003581HP:0003581Adult onset0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0003581HP:0003581Adult onset0IFT74 CL E G H8017321424OMIM:619585SPERMATOGENIC FAILURE 58; SPGF583
HP:0003581HP:0003581Adult onset0IGF2BP2 CL E G H1064428867OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0003581HP:0003581Adult onset0IKZF1 CL E G H1032013176OMIM:616873IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID138
HP:0003581HP:0003581Adult onset0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0003581HP:0003581Adult onset0IL6 CL E G H35696018OMIM:125853Diabetes mellitus, noninsulin-dependent2
HP:0003581HP:0003581Adult onset0IMPG1 CL E G H36176055OMIM:616151Macular dystrophy, vitelliform, 44
HP:0003581HP:0003581Adult onset0IMPG2 CL E G H5093918362OMIM:616152Macular dystrophy, vitelliform, 5120
HP:0003581HP:0003581Adult onset0INF2 CL E G H6442323791OMIM:613237FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5135
HP:0003581HP:0003581Adult onset0INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5229
HP:0003581HP:0003581Adult onset0IRS1 CL E G H36676125OMIM:125853Diabetes mellitus, noninsulin-dependent5
HP:0003581HP:0003581Adult onset0IRS2 CL E G H86606126OMIM:125853Diabetes mellitus, noninsulin-dependent3
HP:0003581HP:0003581Adult onset0ITM2B CL E G H94456174OMIM:616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities3
HP:0003581HP:0003581Adult onset0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0003581HP:0003581Adult onset0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003581HP:0003581Adult onset0JAK2 CL E G H37176192OMIM:600880Budd-Chiari syndrome57
HP:0003581HP:0003581Adult onset0JAK2 CL E G H37176192OMIM:263300Polycythemia vera57
HP:0003581HP:0003581Adult onset0JPH2 CL E G H5715814202OMIM:613873Cardiomyopathy, familial hypertrophic, 17111
HP:0003581HP:0003581Adult onset0JUP CL E G H37286207OMIM:611528ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12222
HP:0003581HP:0003581Adult onset0KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0003581HP:0003581Adult onset0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 1317
HP:0003581HP:0003581Adult onset0KCND3 CL E G H37526239OMIM:616399Brugada syndrome 935
HP:0003581HP:0003581Adult onset0KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0003581HP:0003581Adult onset0KCNE2 CL E G H99926242OMIM:611493ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB443
HP:0003581HP:0003581Adult onset0KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 643
HP:0003581HP:0003581Adult onset0KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0003581HP:0003581Adult onset0KCNJ11 CL E G H37676257OMIM:125853Diabetes mellitus, noninsulin-dependent127
HP:0003581HP:0003581Adult onset0KCNJ18 CL E G H10013444439080OMIM:613239Thyrotoxic periodic paralysis, susceptibility to, 210
HP:0003581HP:0003581Adult onset0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0003581HP:0003581Adult onset0KCNJ2 CL E G H37596263OMIM:613980Atrial fibrillation, familial, 9193
HP:0003581HP:0003581Adult onset0KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13128
HP:0003581HP:0003581Adult onset0KCNK3 CL E G H37776278OMIM:615344Pulmonary hypertension, primary, 47
HP:0003581HP:0003581Adult onset0KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0003581HP:0003581Adult onset0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic1
HP:0003581HP:0003581Adult onset0KDM5D CL E G H828411115OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0003581HP:0003581Adult onset0KIF5A CL E G H37986323OMIM:617921Amyotrophic lateral sclerosis, susceptibility to, 25.93
HP:0003581HP:0003581Adult onset0KLKB1 CL E G H38186371OMIM:612423PREKALLIKREIN DEFICIENCY8
HP:0003581HP:0003581Adult onset0KNG1 CL E G H38276383OMIM:619363ANGIOEDEMA, HEREDITARY, 6; HAE67
HP:0003581HP:0003581Adult onset0KRAS CL E G H38456407OMIM:260350Pancreatic cancer196
HP:0003581HP:0003581Adult onset0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0003581HP:0003581Adult onset0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003581HP:0003581Adult onset0LAMA4 CL E G H39106484OMIM:615235Cardiomyopathy, dilated, 1jj279
HP:0003581HP:0003581Adult onset0LDB3 CL E G H1115515710OMIM:601493Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction286
HP:0003581HP:0003581Adult onset0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4286
HP:0003581HP:0003581Adult onset0LGI1 CL E G H92116572OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL175
HP:0003581HP:0003581Adult onset0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0003581HP:0003581Adult onset0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0003581HP:0003581Adult onset0LIG4 CL E G H39816601OMIM:254500Multiple myeloma88
HP:0003581HP:0003581Adult onset0LIPC CL E G H39906619OMIM:125853Diabetes mellitus, noninsulin-dependent35
HP:0003581HP:0003581Adult onset0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0003581HP:0003581Adult onset0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0003581HP:0003581Adult onset0LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0003581HP:0003581Adult onset0LMNA CL E G H40006636OMIM:115200Cardiomyopathy, dilated, 1A645
HP:0003581HP:0003581Adult onset0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0003581HP:0003581Adult onset0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0003581HP:0003581Adult onset0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0003581HP:0003581Adult onset0LMX1B CL E G H40106654OMIM:256020NAIL-PATELLA-LIKE RENAL DISEASE165
HP:0003581HP:0003581Adult onset0LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003581HP:0003581Adult onset0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0003581HP:0003581Adult onset0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1125
HP:0003581HP:0003581Adult onset0LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 226
HP:0003581HP:0003581Adult onset0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant221
HP:0003581HP:0003581Adult onset0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0003581HP:0003581Adult onset0LZTR1 CL E G H82166742OMIM:615670Schwannomatosis 243
HP:0003581HP:0003581Adult onset0M1AP CL E G H13095125183OMIM:619108SPERMATOGENIC FAILURE 48; SPGF48
HP:0003581HP:0003581Adult onset0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0003581HP:0003581Adult onset0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0003581HP:0003581Adult onset0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0003581HP:0003581Adult onset0MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0003581HP:0003581Adult onset0MAP1B CL E G H41316836OMIM:619808DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0003581HP:0003581Adult onset0MAPK8IP1 CL E G H94796882OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0003581HP:0003581Adult onset0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia140
HP:0003581HP:0003581Adult onset0MAPT CL E G H41376893OMIM:168600Parkinson disease, late-onset140
HP:0003581HP:0003581Adult onset0MAPT CL E G H41376893OMIM:260540Supranuclear palsy, progressive atypical.140
HP:0003581HP:0003581Adult onset0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0003581HP:0003581Adult onset0MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.
HP:0003581HP:0003581Adult onset0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003581HP:0003581Adult onset0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive25
HP:0003581HP:0003581Adult onset0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0003581HP:0003581Adult onset0MBD4 CL E G H89306919OMIM:6199751
HP:0003581HP:0003581Adult onset0MBD4 CL E G H89306919OMIM:606660MELANOMA, UVEAL, SUSCEPTIBILITY TO, 11
HP:0003581HP:0003581Adult onset0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency81
HP:0003581HP:0003581Adult onset0MCM6 CL E G H41756949OMIM:223100LACTOSE INTOLERANCE, ADULT TYPE5
HP:0003581HP:0003581Adult onset0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.43
HP:0003581HP:0003581Adult onset0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0003581HP:0003581Adult onset0MEI1 CL E G H15036528613OMIM:618431Hydatidiform mole, recurrent, 3
HP:0003581HP:0003581Adult onset0MEIOB CL E G H25452828569OMIM:617706Spermatogenic failure 22
HP:0003581HP:0003581Adult onset0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0003581HP:0003581Adult onset0MFAP5 CL E G H807629673OMIM:616166AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT911
HP:0003581HP:0003581Adult onset0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0003581HP:0003581Adult onset0MICAL1 CL E G H6478020619OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0003581HP:0003581Adult onset0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0003581HP:0003581Adult onset0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0003581HP:0003581Adult onset0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0003581HP:0003581Adult onset0MN1 CL E G H43307180OMIM:607174Meningioma, familial, susceptibility to.1
HP:0003581HP:0003581Adult onset0MOCOS CL E G H5503418234OMIM:603592Xanthinuria, type II4
HP:0003581HP:0003581Adult onset0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003581HP:0003581Adult onset0MOV10L1 CL E G H544567201OMIM:619878
HP:0003581HP:0003581Adult onset0MPEG1 CL E G H21997229619OMIM:619223IMMUNODEFICIENCY 77; IMD77
HP:0003581HP:0003581Adult onset0MPO CL E G H43537218OMIM:104300Alzheimer disease11
HP:0003581HP:0003581Adult onset0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0003581HP:0003581Adult onset0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0003581HP:0003581Adult onset0MSH3 CL E G H44377326OMIM:617100Familial adenomatous polyposis 45
HP:0003581HP:0003581Adult onset0MSH4 CL E G H44387327OMIM:619938
HP:0003581HP:0003581Adult onset0MSH4 CL E G H44387327OMIM:108420Spermatogenic failure 2
HP:0003581HP:0003581Adult onset0MSH5 CL E G H44397328OMIM:6199375
HP:0003581HP:0003581Adult onset0MSH6 CL E G H29567329OMIM:614350Colorectal cancer, hereditary nonpolyposis, type 52232
HP:0003581HP:0003581Adult onset0MTNR1B CL E G H45447464OMIM:125853Diabetes mellitus, noninsulin-dependent4
HP:0003581HP:0003581Adult onset0MTOR CL E G H24753942OMIM:607341Focal cortical dysplasia of taylor.68
HP:0003581HP:0003581Adult onset0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0003581HP:0003581Adult onset0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 41143
HP:0003581HP:0003581Adult onset0MYBPC3 CL E G H46077551OMIM:615396Left ventricular noncompaction 101143
HP:0003581HP:0003581Adult onset0MYH6 CL E G H46247576OMIM:613252Cardiomyopathy, dilated, 1ee452
HP:0003581HP:0003581Adult onset0MYH6 CL E G H46247576OMIM:613251Cardiomyopathy, familial hypertrophic, 14452
HP:0003581HP:0003581Adult onset0MYH7 CL E G H46257577OMIM:613426Cardiomyopathy, dilated, 1S1269
HP:0003581HP:0003581Adult onset0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003581HP:0003581Adult onset0MYL2 CL E G H46337583OMIM:608758Cardiomyopathy, familial hypertrophic, 10131
HP:0003581HP:0003581Adult onset0MYL4 CL E G H46357585OMIM:617280Atrial fibrillation, familial, 182
HP:0003581HP:0003581Adult onset0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0003581HP:0003581Adult onset0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body75
HP:0003581HP:0003581Adult onset0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0003581HP:0003581Adult onset0MYPN CL E G H8466523246OMIM:615248Cardiomyopathy, dilated, 1kk217
HP:0003581HP:0003581Adult onset0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive217
HP:0003581HP:0003581Adult onset0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0003581HP:0003581Adult onset0NEFH CL E G H47447737OMIM:105400Amyotrophic lateral sclerosis 124
HP:0003581HP:0003581Adult onset0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24101
HP:0003581HP:0003581Adult onset0NEUROD1 CL E G H47607762OMIM:125853Diabetes mellitus, noninsulin-dependent32
HP:0003581HP:0003581Adult onset0NEXN CL E G H9162429557OMIM:613122Cardiomyopathy, dilated, 1cc167
HP:0003581HP:0003581Adult onset0NEXN CL E G H9162429557OMIM:613876Cardiomyopathy, familial hypertrophic, 20167
HP:0003581HP:0003581Adult onset0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0003581HP:0003581Adult onset0NF2 CL E G H47717773OMIM:607174Meningioma, familial, susceptibility to.220
HP:0003581HP:0003581Adult onset0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0003581HP:0003581Adult onset0NF2 CL E G H47717773OMIM:162091SCHWANNOMATOSIS220
HP:0003581HP:0003581Adult onset0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0003581HP:0003581Adult onset0NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation217
HP:0003581HP:0003581Adult onset0NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria217
HP:0003581HP:0003581Adult onset0NLRP7 CL E G H19971322947OMIM:231090Hydatidiform mole, recurrent, 1171
HP:0003581HP:0003581Adult onset0NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical.1
HP:0003581HP:0003581Adult onset0NOS3 CL E G H48467876OMIM:104300Alzheimer disease8
HP:0003581HP:0003581Adult onset0NOS3 CL E G H48467876OMIM:601367STROKE, ISCHEMIC8
HP:0003581HP:0003581Adult onset0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003581HP:0003581Adult onset0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0003581HP:0003581Adult onset0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0003581HP:0003581Adult onset0NPHP1 CL E G H48677905OMIM:266900Senior-Loken syndrome 185
HP:0003581HP:0003581Adult onset0NPPA CL E G H48787939OMIM:612201Atrial fibrillation, familial, 613
HP:0003581HP:0003581Adult onset0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital48
HP:0003581HP:0003581Adult onset0NR4A2 CL E G H49297981OMIM:168600Parkinson disease, late-onset27
HP:0003581HP:0003581Adult onset0NRCAM CL E G H48977994OMIM:6198332
HP:0003581HP:0003581Adult onset0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0003581HP:0003581Adult onset0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0003581HP:0003581Adult onset0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0003581HP:0003581Adult onset0OSMR CL E G H91808507OMIM:105250Amyloidosis, primary localized cutaneous, 1.5
HP:0003581HP:0003581Adult onset0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to369
HP:0003581HP:0003581Adult onset0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0003581HP:0003581Adult onset0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0003581HP:0003581Adult onset0PARN CL E G H50738609OMIM:616371PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT426
HP:0003581HP:0003581Adult onset0PATL2 CL E G H19713533630OMIM:617743Oocyte maturation defect 4
HP:0003581HP:0003581Adult onset0PAX2 CL E G H50768616OMIM:616002Focal segmental glomerulosclerosis 739
HP:0003581HP:0003581Adult onset0PAX4 CL E G H50788618OMIM:125853Diabetes mellitus, noninsulin-dependent55
HP:0003581HP:0003581Adult onset0PDCD1 CL E G H51338760OMIM:126200Multiple sclerosis, susceptibility to1
HP:0003581HP:0003581Adult onset0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0003581HP:0003581Adult onset0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0003581HP:0003581Adult onset0PDGFB CL E G H51558800OMIM:607174Meningioma, familial, susceptibility to.9
HP:0003581HP:0003581Adult onset0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0003581HP:0003581Adult onset0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0003581HP:0003581Adult onset0PDHA2 CL E G H51618807OMIM:619828SPERMATOGENIC FAILURE 70; SPGF70
HP:0003581HP:0003581Adult onset0PDX1 CL E G H36516107OMIM:125853Diabetes mellitus, noninsulin-dependent30
HP:0003581HP:0003581Adult onset0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003581HP:0003581Adult onset0PIGA CL E G H52778957OMIM:300818Paroxysmal nocturnal hemoglobinuria46
HP:0003581HP:0003581Adult onset0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0003581HP:0003581Adult onset0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 311
HP:0003581HP:0003581Adult onset0PKD2 CL E G H53119009OMIM:613095Polycystic kidney disease 2106
HP:0003581HP:0003581Adult onset0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease563
HP:0003581HP:0003581Adult onset0PKP2 CL E G H53189024OMIM:609040Arrhythmogenic right ventricular dysplasia, familial, 9406
HP:0003581HP:0003581Adult onset0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0003581HP:0003581Adult onset0PLAU CL E G H53289052OMIM:104300Alzheimer disease50
HP:0003581HP:0003581Adult onset0PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 46.2
HP:0003581HP:0003581Adult onset0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0003581HP:0003581Adult onset0PLG CL E G H53409071OMIM:619360ANGIOEDEMA, HEREDITARY, 4; HAE411
HP:0003581HP:0003581Adult onset0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 419
HP:0003581HP:0003581Adult onset0PLN CL E G H53509080OMIM:609909Cardiomyopathy, dilated, 1P57
HP:0003581HP:0003581Adult onset0PLN CL E G H53509080OMIM:613874Cardiomyopathy, familial hypertrophic, 1857
HP:0003581HP:0003581Adult onset0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0003581HP:0003581Adult onset0PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0003581HP:0003581Adult onset0PMVK CL E G H106549141OMIM:175800Porokeratosis 1, multiple types3
HP:0003581HP:0003581Adult onset0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.244
HP:0003581HP:0003581Adult onset0PNLDC1 CL E G H15419721185OMIM:619528SPERMATOGENIC FAILURE 57; SPGF57
HP:0003581HP:0003581Adult onset0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0003581HP:0003581Adult onset0POF1B CL E G H7998313711OMIM:300604Premature ovarian failure 2B31
HP:0003581HP:0003581Adult onset0POLE CL E G H54269177OMIM:615083Colorectal cancer, susceptibility to, 12.1129
HP:0003581HP:0003581Adult onset0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003581HP:0003581Adult onset0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessiveHP:0040282 - Frequent464
HP:0003581HP:0003581Adult onset0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0003581HP:0003581Adult onset0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0003581HP:0003581Adult onset0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0003581HP:0003581Adult onset0POT1 CL E G H2591317284OMIM:616568Glioma susceptibility 9.23
HP:0003581HP:0003581Adult onset0POT1 CL E G H2591317284OMIM:615848Melanoma, cutaneous malignant, susceptibility to, 10.23
HP:0003581HP:0003581Adult onset0PPARG CL E G H54689236OMIM:125853Diabetes mellitus, noninsulin-dependent42
HP:0003581HP:0003581Adult onset0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0003581HP:0003581Adult onset0PPOX CL E G H54989280OMIM:176200Porphyria variegata41
HP:0003581HP:0003581Adult onset0PPP1R3A CL E G H55069291OMIM:125853Diabetes mellitus, noninsulin-dependent12
HP:0003581HP:0003581Adult onset0PPP2R3C CL E G H5501217485OMIM:618420Spermatogenic failure 36
HP:0003581HP:0003581Adult onset0PRDM16 CL E G H6397614000OMIM:615373Left ventricular noncompaction 8148
HP:0003581HP:0003581Adult onset0PRDX3 CL E G H109359354OMIM:619862
HP:0003581HP:0003581Adult onset0PRKAG2 CL E G H514229386OMIM:194200WOLFF-PARKINSON-WHITE SYNDROME235
HP:0003581HP:0003581Adult onset0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0003581HP:0003581Adult onset0PRKCH CL E G H55839403OMIM:601367STROKE, ISCHEMIC1
HP:0003581HP:0003581Adult onset0PRKCSH CL E G H55899411OMIM:174050Polycystic liver disease 1 with or without kidney cysts.63
HP:0003581HP:0003581Adult onset0PRKG1 CL E G H55929414OMIM:615436AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT841
HP:0003581HP:0003581Adult onset0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0003581HP:0003581Adult onset0PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0003581HP:0003581Adult onset0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease69
HP:0003581HP:0003581Adult onset0PRNP CL E G H56219449OMIM:600072Fatal familial insomnia.69
HP:0003581HP:0003581Adult onset0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0003581HP:0003581Adult onset0PRNP CL E G H56219449OMIM:603218Huntington disease-like 169
HP:0003581HP:0003581Adult onset0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0003581HP:0003581Adult onset0PRPH CL E G H56309461OMIM:105400Amyotrophic lateral sclerosis 125
HP:0003581HP:0003581Adult onset0PRPH2 CL E G H59619942OMIM:608161Macular dystrophy, vitelliform, 3159
HP:0003581HP:0003581Adult onset0PRY CL E G H908114024OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0PRY2 CL E G H44286221504OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED5
HP:0003581HP:0003581Adult onset0PSAP CL E G H56609498OMIM:619491PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK2481
HP:0003581HP:0003581Adult onset0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0003581HP:0003581Adult onset0PSEN1 CL E G H56639508OMIM:613694Cardiomyopathy, dilated, 1U241
HP:0003581HP:0003581Adult onset0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia241
HP:0003581HP:0003581Adult onset0PSEN2 CL E G H56649509OMIM:606889Alzheimer disease 459
HP:0003581HP:0003581Adult onset0PSEN2 CL E G H56649509OMIM:613697Cardiomyopathy, dilated, 1V59
HP:0003581HP:0003581Adult onset0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0003581HP:0003581Adult onset0PTEN CL E G H57289588OMIM:607174Meningioma, familial, susceptibility to.948
HP:0003581HP:0003581Adult onset0PTPN1 CL E G H57709642OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0003581HP:0003581Adult onset0PYGM CL E G H58379726OMIM:232600Glycogen storage disease V166
HP:0003581HP:0003581Adult onset0RAB39B CL E G H11644216499OMIM:311510Waisman syndrome34
HP:0003581HP:0003581Adult onset0RAF1 CL E G H58949829OMIM:615916Cardiomyopathy, dilated, 1nn212
HP:0003581HP:0003581Adult onset0RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0003581HP:0003581Adult onset0RAX2 CL E G H8483918286OMIM:62010252
HP:0003581HP:0003581Adult onset0RBM20 CL E G H28299627424OMIM:613172Cardiomyopathy, dilated, 1dd363
HP:0003581HP:0003581Adult onset0RBMY1A1 CL E G H59409912OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66108
HP:0003581HP:0003581Adult onset0RCBTB1 CL E G H5521318243OMIM:617175RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA8
HP:0003581HP:0003581Adult onset0REC114 CL E G H28367725065OMIM:619176OOCYTE MATURATION DEFECT 10; OOMD10
HP:0003581HP:0003581Adult onset0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant87
HP:0003581HP:0003581Adult onset0RELN CL E G H56499957OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1334
HP:0003581HP:0003581Adult onset0RETN CL E G H5672920389OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0003581HP:0003581Adult onset0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
HP:0003581HP:0003581Adult onset0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0003581HP:0003581Adult onset0RIPOR2 CL E G H975013872OMIM:607017Deafness, autosomal dominant 211
HP:0003581HP:0003581Adult onset0RNF170 CL E G H8179025358OMIM:608984Ataxia, sensory, autosomal dominant.3
HP:0003581HP:0003581Adult onset0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0003581HP:0003581Adult onset0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0003581HP:0003581Adult onset0RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0003581HP:0003581Adult onset0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0003581HP:0003581Adult onset0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0003581HP:0003581Adult onset0RPL10L CL E G H14080117976OMIM:619689SPERMATOGENIC FAILURE 63; SPGF632
HP:0003581HP:0003581Adult onset0RPS14 CL E G H620810387OMIM:153550Chromosome 5q deletion syndrome
HP:0003581HP:0003581Adult onset0RPS4Y2 CL E G H14003218501OMIM:415000SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
HP:0003581HP:0003581Adult onset0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5125
HP:0003581HP:0003581Adult onset0RTEL1 CL E G H5175015888OMIM:616373PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT377
HP:0003581HP:0003581Adult onset0RYR2 CL E G H626210484OMIM:600996Arrhythmogenic right ventricular dysplasia, familial, 21103
HP:0003581HP:0003581Adult onset0RYR2 CL E G H626210484OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT11103
HP:0003581HP:0003581Adult onset0SAMD12 CL E G H40147431750OMIM:601068Epilepsy, familial adult myoclonic, 12
HP:0003581HP:0003581Adult onset0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0003581HP:0003581Adult onset0SASH3 CL E G H5444015975OMIM:3010821
HP:0003581HP:0003581Adult onset0SCN10A CL E G H633610582OMIM:615551EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2146
HP:0003581HP:0003581Adult onset0SCN1A CL E G H632310585OMIM:609634Migraine, familial hemiplegic, 31053
HP:0003581HP:0003581Adult onset0SCN1B CL E G H632410586OMIM:615377Atrial fibrillation, familial, 13126
HP:0003581HP:0003581Adult onset0SCN2B CL E G H632710589OMIM:615378Atrial fibrillation, familial, 1421
HP:0003581HP:0003581Adult onset0SCN3B CL E G H5580020665OMIM:613120Brugada syndrome 7122
HP:0003581HP:0003581Adult onset0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated263
HP:0003581HP:0003581Adult onset0SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0003581HP:0003581Adult onset0SCN5A CL E G H633110593OMIM:614022Atrial fibrillation, familial, 101134
HP:0003581HP:0003581Adult onset0SCN5A CL E G H633110593OMIM:601154Cardiomyopathy, dilated, 1E1134
HP:0003581HP:0003581Adult onset0SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0003581HP:0003581Adult onset0SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0003581HP:0003581Adult onset0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0003581HP:0003581Adult onset0SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0003581HP:0003581Adult onset0SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0003581HP:0003581Adult onset0SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0003581HP:0003581Adult onset0SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0003581HP:0003581Adult onset0SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II60
HP:0003581HP:0003581Adult onset0SEC63 CL E G H1123121082OMIM:617004Polycystic liver disease 2.137
HP:0003581HP:0003581Adult onset0SELENBP1 CL E G H899110719OMIM:618148Extraoral halitosis due to MTO deficiency
HP:0003581HP:0003581Adult onset0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia14
HP:0003581HP:0003581Adult onset0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency131
HP:0003581HP:0003581Adult onset0SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency4
HP:0003581HP:0003581Adult onset0SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 164
HP:0003581HP:0003581Adult onset0SERPINH1 CL E G H8711546OMIM:610504Preterm premature rupture of the membranes52
HP:0003581HP:0003581Adult onset0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0003581HP:0003581Adult onset0SFRP4 CL E G H642410778OMIM:265900Pyle disease3
HP:0003581HP:0003581Adult onset0SFTPA1 CL E G H65350910798OMIM:619611INTERSTITIAL LUNG DISEASE 1; ILD119
HP:0003581HP:0003581Adult onset0SGCD CL E G H644410807OMIM:606685CARDIOMYOPATHY, DILATED, 1L; CMD1L223
HP:0003581HP:0003581Adult onset0SH3BP2 CL E G H645210825OMIM:118400Cherubism177
HP:0003581HP:0003581Adult onset0SH3TC2 CL E G H7962829427OMIM:613353Mononeuropathy of the median nerve, mild493
HP:0003581HP:0003581Adult onset0SHANK3 CL E G H8535814294OMIM:613950Schizophrenia 1553
HP:0003581HP:0003581Adult onset0SHOC1 CL E G H15840126535OMIM:619949
HP:0003581HP:0003581Adult onset0SLC17A9 CL E G H6391016192OMIM:616063Porokeratosis 8, disseminated superficial Actinic type3
HP:0003581HP:0003581Adult onset0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndrome55
HP:0003581HP:0003581Adult onset0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0003581HP:0003581Adult onset0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0003581HP:0003581Adult onset0SLC22A12 CL E G H11608517989OMIM:220150Hypouricemia, renal, 156
HP:0003581HP:0003581Adult onset0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset82
HP:0003581HP:0003581Adult onset0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0003581HP:0003581Adult onset0SLC26A8 CL E G H11636914468OMIM:606766Spermatogenic failure 33
HP:0003581HP:0003581Adult onset0SLC2A2 CL E G H651411006OMIM:125853Diabetes mellitus, noninsulin-dependent71
HP:0003581HP:0003581Adult onset0SLC30A8 CL E G H16902620303OMIM:125853Diabetes mellitus, noninsulin-dependent3
HP:0003581HP:0003581Adult onset0SLC34A2 CL E G H1056811020OMIM:265100Pulmonary alveolar microlithiasis7
HP:0003581HP:0003581Adult onset0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0003581HP:0003581Adult onset0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna5
HP:0003581HP:0003581Adult onset0SLC44A4 CL E G H8073613941OMIM:617606Deafness, autosomal dominant 721
HP:0003581HP:0003581Adult onset0SLC4A11 CL E G H8395916438OMIM:217400Corneal endothelial dystrophy and perceptive deafness66
HP:0003581HP:0003581Adult onset0SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation89
HP:0003581HP:0003581Adult onset0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0003581HP:0003581Adult onset0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0003581HP:0003581Adult onset0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0003581HP:0003581Adult onset0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0003581HP:0003581Adult onset0SMAD4 CL E G H40896770OMIM:260350Pancreatic cancer504
HP:0003581HP:0003581Adult onset0SMARCB1 CL E G H659811103OMIM:162091SCHWANNOMATOSIS87
HP:0003581HP:0003581Adult onset0SMARCE1 CL E G H660511109OMIM:607174Meningioma, familial, susceptibility to.47
HP:0003581HP:0003581Adult onset0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0003581HP:0003581Adult onset0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003581HP:0003581Adult onset0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0003581HP:0003581Adult onset0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003581HP:0003581Adult onset0SMPD1 CL E G H660911120OMIM:607616Niemann-pick disease, type B164
HP:0003581HP:0003581Adult onset0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003581HP:0003581Adult onset0SNCA CL E G H662211138OMIM:605543Parkinson disease 465
HP:0003581HP:0003581Adult onset0SNCAIP CL E G H962711139OMIM:168600Parkinson disease, late-onset35
HP:0003581HP:0003581Adult onset0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts6
HP:0003581HP:0003581Adult onset0SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0003581HP:0003581Adult onset0SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0003581HP:0003581Adult onset0SOD1 CL E G H664711179OMIM:105400Amyotrophic lateral sclerosis 153
HP:0003581HP:0003581Adult onset0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0003581HP:0003581Adult onset0SPAG17 CL E G H20016226620OMIM:619380SPERMATOGENIC FAILURE 55; SPGF552
HP:0003581HP:0003581Adult onset0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile287
HP:0003581HP:0003581Adult onset0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0003581HP:0003581Adult onset0SPG21 CL E G H5132420373OMIM:248900Mast syndrome28
HP:0003581HP:0003581Adult onset0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0003581HP:0003581Adult onset0SPRY2 CL E G H1025311270OMIM:616818Iga nephropathy, susceptibility to, 31
HP:0003581HP:0003581Adult onset0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0003581HP:0003581Adult onset0STAG3 CL E G H1073411356OMIM:615723Premature ovarian failure 84
HP:0003581HP:0003581Adult onset0STARD7 CL E G H5691018063OMIM:607876Epilepsy, familial adult myoclonic, 2
HP:0003581HP:0003581Adult onset0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0003581HP:0003581Adult onset0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0003581HP:0003581Adult onset0STK11 CL E G H679411389OMIM:260350Pancreatic cancer740
HP:0003581HP:0003581Adult onset0STOX1 CL E G H21973623508OMIM:609404Preeclampsia/eclampsia 42
HP:0003581HP:0003581Adult onset0STRC CL E G H16149716035OMIM:612997Spermatogenic failure 778
HP:0003581HP:0003581Adult onset0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0003581HP:0003581Adult onset0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0003581HP:0003581Adult onset0SUFU CL E G H5168416466OMIM:607174Meningioma, familial, susceptibility to.124
HP:0003581HP:0003581Adult onset0SYCE1 CL E G H9342628852OMIM:616950Spermatogenic failure 154
HP:0003581HP:0003581Adult onset0SYCP2 CL E G H1038811490OMIM:258150SPERMATOGENIC FAILURE 1; SPGF11
HP:0003581HP:0003581Adult onset0SYCP3 CL E G H5051118130OMIM:270960Spermatogenic failure 412
HP:0003581HP:0003581Adult onset0SYNE1 CL E G H2334517089OMIM:610743Spinocerebellar ataxia, autosomal recessive 8.1129
HP:0003581HP:0003581Adult onset0TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0003581HP:0003581Adult onset0TAF4B CL E G H687511538OMIM:615841Spermatogenic failure 131
HP:0003581HP:0003581Adult onset0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia65
HP:0003581HP:0003581Adult onset0TBC1D24 CL E G H5746529203OMIM:616044Deafness, autosomal dominant 65271
HP:0003581HP:0003581Adult onset0TBK1 CL E G H2911011584OMIM:617900Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 820
HP:0003581HP:0003581Adult onset0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0003581HP:0003581Adult onset0TBP CL E G H690811588OMIM:168600Parkinson disease, late-onset7
HP:0003581HP:0003581Adult onset0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0003581HP:0003581Adult onset0TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 25
HP:0003581HP:0003581Adult onset0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0003581HP:0003581Adult onset0TCAP CL E G H855711610OMIM:607487Cardiomyopathy, familial hypertrophic, 2578
HP:0003581HP:0003581Adult onset0TCF7L2 CL E G H693411641OMIM:125853Diabetes mellitus, noninsulin-dependent4
HP:0003581HP:0003581Adult onset0TECRL CL E G H25301727365OMIM:614021Ventricular tachycardia, catecholaminergic polymorphic, 34
HP:0003581HP:0003581Adult onset0TERB1 CL E G H28384726675OMIM:619646SPERMATOGENIC FAILURE 60; SPGF60
HP:0003581HP:0003581Adult onset0TERB2 CL E G H14564528520OMIM:619645SPERMATOGENIC FAILURE 59; SPGF59
HP:0003581HP:0003581Adult onset0TERC CL E G H701211727OMIM:614743Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2.48
HP:0003581HP:0003581Adult onset0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0003581HP:0003581Adult onset0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0003581HP:0003581Adult onset0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0003581HP:0003581Adult onset0TGFBI CL E G H704511771OMIM:121820Corneal dystrophy, epithelial basement membrane58
HP:0003581HP:0003581Adult onset0TGFBR1 CL E G H704611772OMIM:132800Multiple self-healing squamous epithelioma239
HP:0003581HP:0003581Adult onset0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0003581HP:0003581Adult onset0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion42
HP:0003581HP:0003581Adult onset0THBD CL E G H705611784OMIM:614486Thrombophilia due to thrombomodulin defect60
HP:0003581HP:0003581Adult onset0THSD1 CL E G H5590117754OMIM:618734ANEURYSM, INTRACRANIAL BERRY, 12; ANIB122
HP:0003581HP:0003581Adult onset0THSD4 CL E G H7987525835OMIM:619825AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT122
HP:0003581HP:0003581Adult onset0TIA1 CL E G H707211802OMIM:619133AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS265
HP:0003581HP:0003581Adult onset0TIA1 CL E G H707211802OMIM:604454Welander distal myopathy.5
HP:0003581HP:0003581Adult onset0TIE1 CL E G H707511809OMIM:619401LYMPHATIC MALFORMATION 11; LMPHM11
HP:0003581HP:0003581Adult onset0TIMP3 CL E G H707811822OMIM:136900Sorsby fundus dystrophy95
HP:0003581HP:0003581Adult onset0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 360
HP:0003581HP:0003581Adult onset0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0003581HP:0003581Adult onset0TLR7 CL E G H5128415631OMIM:301080
HP:0003581HP:0003581Adult onset0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003581HP:0003581Adult onset0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0003581HP:0003581Adult onset0TMEM43 CL E G H7918828472OMIM:604400Arrhythmogenic right ventricular dysplasia, familial, 5171
HP:0003581HP:0003581Adult onset0TMEM43 CL E G H7918828472OMIM:619832AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3171
HP:0003581HP:0003581Adult onset0TMEM43 CL E G H7918828472OMIM:614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant.171
HP:0003581HP:0003581Adult onset0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0003581HP:0003581Adult onset0TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0003581HP:0003581Adult onset0TNNC1 CL E G H713411943OMIM:611879CARDIOMYOPATHY, DILATED, 1Z; CMD1Z73
HP:0003581HP:0003581Adult onset0TNNC1 CL E G H713411943OMIM:613243Cardiomyopathy, familial hypertrophic, 1373
HP:0003581HP:0003581Adult onset0TNNI3 CL E G H713711947OMIM:613286Cardiomyopathy, dilated, 1ff180
HP:0003581HP:0003581Adult onset0TNNI3 CL E G H713711947OMIM:611880Cardiomyopathy, dilated, 2A180
HP:0003581HP:0003581Adult onset0TNNI3 CL E G H713711947OMIM:613690Cardiomyopathy, familial hypertrophic, 7180
HP:0003581HP:0003581Adult onset0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0003581HP:0003581Adult onset0TNNT2 CL E G H713911949OMIM:115195Cardiomyopathy, familial hypertrophic, 2248
HP:0003581HP:0003581Adult onset0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0003581HP:0003581Adult onset0TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0003581HP:0003581Adult onset0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0003581HP:0003581Adult onset0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0003581HP:0003581Adult onset0TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0003581HP:0003581Adult onset0TP53 CL E G H715711998OMIM:260350Pancreatic cancer911
HP:0003581HP:0003581Adult onset0TP53 CL E G H715711998OMIM:260500Papilloma of choroid plexus911
HP:0003581HP:0003581Adult onset0TPM1 CL E G H716812010OMIM:611878Cardiomyopathy, dilated, 1Y230
HP:0003581HP:0003581Adult onset0TRDN CL E G H1034512261OMIM:604772VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1145
HP:0003581HP:0003581Adult onset0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0003581HP:0003581Adult onset0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0003581HP:0003581Adult onset0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0003581HP:0003581Adult onset0TRNT CL E G H45767499OMIM:168600Parkinson disease, late-onset
HP:0003581HP:0003581Adult onset0TRPC3 CL E G H722212335OMIM:616410Spinocerebellar ataxia 41.1
HP:0003581HP:0003581Adult onset0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003581HP:0003581Adult onset0TSC1 CL E G H724812362OMIM:607341Focal cortical dysplasia of taylor.1090
HP:0003581HP:0003581Adult onset0TSC2 CL E G H724912363OMIM:607341Focal cortical dysplasia of taylor.2738
HP:0003581HP:0003581Adult onset0TTBK2 CL E G H14605719141OMIM:604432Spinocerebellar ataxia 11.57
HP:0003581HP:0003581Adult onset0TTC21A CL E G H19922330761OMIM:618429Spermatogenic failure 37
HP:0003581HP:0003581Adult onset0TTLL5 CL E G H2309319963OMIM:615860Cone-Rod dystrophy 199
HP:0003581HP:0003581Adult onset0TTN CL E G H727312403OMIM:604145CARDIOMYOPATHY, DILATED, 1G; CMD1G7128
HP:0003581HP:0003581Adult onset0TTN CL E G H727312403OMIM:613765CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH97128
HP:0003581HP:0003581Adult onset0TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 107128
HP:0003581HP:0003581Adult onset0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003581HP:0003581Adult onset0TTN CL E G H727312403OMIM:600334Tibial muscular dystrophy, tardive.7128
HP:0003581HP:0003581Adult onset0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0003581HP:0003581Adult onset0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant66
HP:0003581HP:0003581Adult onset0TULP3 CL E G H728912425OMIM:619902
HP:0003581HP:0003581Adult onset0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003581HP:0003581Adult onset0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0003581HP:0003581Adult onset0TYROBP CL