Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003581 | HP:0003581 | Adult onset | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:600803 | Gallbladder disease 1 | | | | 111 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABCC1 CL E G H | 4363 | 51 | OMIM:618915 | DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77 | | | | 22 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 245 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:614050 | Atrial fibrillation, familial, 12 | | | | 254 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:608569 | CARDIOMYOPATHY, DILATED, 1O; CMD1O | | | | 254 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:613424 | Cardiomyopathy, dilated, 1R | | | | 208 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:604717 | Deafness, autosomal dominant 20 | | | | 123 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:612158 | Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | | | | 307 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ADGRG2 CL E G H | 10149 | 4516 | OMIM:300985 | Vas deferens, congenital bilateral aplasia of, X-linked | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | | | | 86 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AGBL1 CL E G H | 123624 | 26504 | OMIM:615523 | Corneal dystrophy, fuchs endothelial, 8 | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | | | | 95 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AKT2 CL E G H | 208 | 392 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | | | | 89 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | | | | 108 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ALG10B CL E G H | 144245 | 31088 | OMIM:613688 | Long QT syndrome 2 | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ALG5 CL E G H | 29880 | 20266 | OMIM:620056 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ALOX5AP CL E G H | 241 | 436 | OMIM:601367 | STROKE, ISCHEMIC | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:118600 | Chondrocalcinosis 2 | . | | | 164 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ANLN CL E G H | 54443 | 14082 | OMIM:616032 | Focal segmental glomerulosclerosis 8 | | | | 6 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | | | | 17 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:617839 | Amyotrophic lateral sclerosis 23 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APC CL E G H | 324 | 583 | OMIM:135290 | Desmoid disease, hereditary | | | | 3179 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APOE CL E G H | 348 | 613 | OMIM:104310 | Alzheimer disease 2 | | | | 39 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | | | | 39 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APOE CL E G H | 348 | 613 | OMIM:269600 | Sea-Blue histiocyte disease | | | | 39 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APP CL E G H | 351 | 620 | OMIM:104300 | Alzheimer disease | | | | 74 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ARHGEF10 CL E G H | 9639 | 14103 | OMIM:608236 | Slowed nerve conduction velocity, autosomal dominant | . | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ARMC5 CL E G H | 79798 | 25781 | OMIM:615954 | ACTH-independent macronodular adrenal hyperplasia 2 | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ASTL CL E G H | 431705 | 31704 | OMIM:619643 | OOCYTE MATURATION DEFECT 11; OOMD11 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:125370 | Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia | | | | 16 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619810 | DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | | | | 239 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | | | | 150 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP2B2 CL E G H | 491 | 815 | OMIM:619804 | DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82 | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300911 | Parkinsonism with spasticity, X-linked | | | | 36 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619971 | | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | | | | 49 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | AURKC CL E G H | 6795 | 11391 | OMIM:243060 | Male infertility with large-headed, multiflagellar, polyploid spermatozoa | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:613881 | Cardiomyopathy, dilated, 1hh | | | | 204 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BAG5 CL E G H | 9529 | 941 | OMIM:619747 | CARDIOMYOPATHY, DILATED, 2F; CMD2F | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:606661 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 | | | | 184 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | | | | 184 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BCL10 CL E G H | 8915 | 989 | OMIM:137245 | Gastric lymphoma, primary | | | | 18 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BLK CL E G H | 640 | 1057 | OMIM:613375 | Maturity-onset diabetes of the young, type 11 | | | | 75 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BLVRA CL E G H | 644 | 1062 | OMIM:614156 | Hyperbiliverdinemia | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BMPR2 CL E G H | 659 | 1078 | OMIM:178600 | Pulmonary hypertension, primary, 1 | | | | 525 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BPGM CL E G H | 669 | 1093 | OMIM:222800 | Erythrocytosis, familial, 8 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BPY2 CL E G H | 9083 | 13508 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | | | | 5769 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | C14ORF39 CL E G H | 317761 | 19849 | OMIM:619203 | PREMATURE OVARIAN FAILURE 18; POF18 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | C14ORF39 CL E G H | 317761 | 19849 | OMIM:619202 | SPERMATOGENIC FAILURE 52; SPGF52 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | HP:0040284 - Very rare | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | C2CD6 CL E G H | 151254 | 14438 | OMIM:619805 | SPERMATOGENIC FAILURE 68; SPGF68 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | C9 CL E G H | 735 | 1358 | OMIM:615591 | MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15 | | | | 10 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | | | | 449 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:618447 | LONG QT SYNDROME 8; LQT8 | | | | 572 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:607682 | Epilepsy, idiopathic generalized, susceptibility to, 9 | | | | 146 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:613855 | Episodic ataxia, type 5 | | | | 146 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | . | | | 323 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CASQ2 CL E G H | 845 | 1513 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 129 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CATIP CL E G H | 375307 | 25062 | OMIM:619379 | SPERMATOGENIC FAILURE 54; SPGF54 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CATSPER1 CL E G H | 117144 | 17116 | OMIM:612997 | Spermatogenic failure 7 | | | | 45 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CATSPER2 CL E G H | 117155 | 18810 | OMIM:612997 | Spermatogenic failure 7 | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:615343 | Pulmonary hypertension, primary, 3 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:611818 | Long QT syndrome 9 | | | | 148 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | HP:0040282 - Frequent | | | 148 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619845 | RETINITIS PIGMENTOSA 93; RP93 | | | | 247 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CCDC34 CL E G H | 91057 | 25079 | OMIM:620084 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CCDC62 CL E G H | 84660 | 30723 | OMIM:619803 | SPERMATOGENIC FAILURE 67; SPGF67 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | . | | | 54 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:254500 | Multiple myeloma | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CCNF CL E G H | 899 | 1591 | OMIM:619141 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CD164 CL E G H | 8763 | 1632 | OMIM:616969 | DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:137215 | Gastric cancer, hereditary diffuse | | | | 1003 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618920 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CDH23 CL E G H | 64072 | 13733 | OMIM:617540 | Pituitary adenoma 5, multiple types | . | | | 636 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CDY1 CL E G H | 9085 | 1809 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CDY2A CL E G H | 9426 | 1810 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CEP78 CL E G H | 84131 | 25740 | OMIM:617236 | CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL | | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CFAP43 CL E G H | 80217 | 26684 | OMIM:617592 | Spermatogenic failure 19 | | | | 6 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CFAP44 CL E G H | 55779 | 25631 | OMIM:617593 | Spermatogenic failure 20 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CFAP58 CL E G H | 159686 | 26676 | OMIM:619144 | SPERMATOGENIC FAILURE 49; SPGF49 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CFH CL E G H | 3075 | 4883 | OMIM:610698 | Macular degeneration, age-related, 4 | | | | 86 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | | | | 42 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CHRNA2 CL E G H | 1135 | 1956 | OMIM:610353 | Epilepsy, nocturnal frontal lobe, 4 | | | | 188 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:160800 | Myotonia congenita, autosomal dominant | | | | 133 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:255700 | Myotonia congenita, autosomal recessive | | | | 133 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | | | | 44 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CLEC3B CL E G H | 7123 | 11891 | OMIM:619977 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | | | | 46 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:608805 | Avascular necrosis of femoral head, primary, 1 | | | | 284 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:618564 | MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL | | | | 193 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:180000 | Retinal arteries, tortuosity of | | | | 193 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | | | | 702 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:146500 | Multiple system atrophy 1, susceptibility to | . | | | 54 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CORIN CL E G H | 10699 | 19012 | OMIM:614595 | Preeclampsia/eclampsia 5 | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | | | | 72 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | . | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | | | | 101 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:615184 | Cardiomyopathy, dilated, 1ii | | | | 46 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CSRP3 CL E G H | 8048 | 2472 | OMIM:607482 | CARDIOMYOPATHY, DILATED, 1M; CMD1M | | | | 104 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CSRP3 CL E G H | 8048 | 2472 | OMIM:612124 | Cardiomyopathy, familial hypertrophic, 12 | | | | 104 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219750 | Cystinosis, adult nonnephropathic | | | | 178 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | . | | | 20 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:605041 | Brooke-Spiegler syndrome | . | | | 126 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:132700 | Cylindromatosis, familial | . | | | 126 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:619132 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8 | | | | 126 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:601606 | Trichoepithelioma, multiple familial, 1 | . | | | 126 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | | | | 112 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DAZ1 CL E G H | 1617 | 2682 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DAZ2 CL E G H | 57055 | 15964 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DAZ3 CL E G H | 57054 | 15965 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 86 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | . | | | 86 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DDX3Y CL E G H | 8653 | 2699 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | . | | | 23 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DES CL E G H | 1674 | 2770 | OMIM:604765 | CARDIOMYOPATHY, DILATED, 1I; CMD1I | | | | 263 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | | | | 263 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | . | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DIAPH2 CL E G H | 1730 | 2877 | OMIM:300511 | Premature ovarian failure 2A | | | | 6 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DIAPH3 CL E G H | 81624 | 15480 | OMIM:609129 | Auditory neuropathy, autosomal dominant, 1 | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DMD CL E G H | 1756 | 2928 | OMIM:300376 | Muscular dystrophy, Becker type | . | | | 1496 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAH17 CL E G H | 8632 | 2946 | OMIM:618643 | SPERMATOGENIC FAILURE 39; SPGF39 | | | | 37 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAH8 CL E G H | 1769 | 2952 | OMIM:619095 | SPERMATOGENIC FAILURE 46; SPGF46 | | | | 153 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | . | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | . | | | 103 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNHD1 CL E G H | 144132 | 26532 | OMIM:619712 | SPERMATOGENIC FAILURE 65; SPGF65 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | . | | | 145 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:619478 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4 | | | | 79 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DPY19L2 CL E G H | 283417 | 19414 | OMIM:613958 | Spermatogenic failure 9 | | | | 17 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DRD5 CL E G H | 1816 | 3026 | OMIM:606798 | Blepharospasm, benign essential, susceptibility to | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | | | | 268 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:612877 | CARDIOMYOPATHY, DILATED, 1BB; CMD1BB | | | | 358 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607450 | Arrhythmogenic right ventricular dysplasia, familial, 8 | | | | 747 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | | | | 163 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | HP:0040282 - Frequent | | | 600 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | | | | 600 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ELMOD3 CL E G H | 84173 | 26158 | OMIM:619500 | DEAFNESS, AUTOSOMAL DOMINANT 81; DFNA81 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ENO3 CL E G H | 2027 | 3354 | OMIM:612932 | Glycogen storage disease XIII | . | | | 34 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 151 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | | | | 170 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ERBB4 CL E G H | 2066 | 3432 | OMIM:615515 | Amyotrophic lateral sclerosis 19 | . | | | 15 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:616946 | PREMATURE OVARIAN FAILURE 11; POF11 | | | | 199 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | F2 CL E G H | 2147 | 3535 | OMIM:601367 | STROKE, ISCHEMIC | | | | 44 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | F5 CL E G H | 2153 | 3542 | OMIM:600880 | Budd-Chiari syndrome | | | | 159 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | F5 CL E G H | 2153 | 3542 | OMIM:614389 | Pregnancy loss, recurrent, susceptibility to, 1 | | | | 159 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | F5 CL E G H | 2153 | 3542 | OMIM:601367 | STROKE, ISCHEMIC | | | | 159 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | F5 CL E G H | 2153 | 3542 | OMIM:188055 | Thrombophilia due to deficiency of activated protein C cofactor | . | | | 159 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | F8 CL E G H | 2157 | 3546 | OMIM:301071 | THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13 | | | | 303 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FAT2 CL E G H | 2196 | 3596 | OMIM:617769 | Spinocerebellar ataxia 45 | . | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:129600 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 | | | | 1361 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FBXO43 CL E G H | 286151 | 28521 | OMIM:619696 | SPERMATOGENIC FAILURE 64; SPGF64 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | . | | | 68 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FHOD3 CL E G H | 80206 | 26178 | OMIM:619402 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:612577 | Amyotrophic lateral sclerosis 11 | | | | 111 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FKBP6 CL E G H | 8468 | 3722 | OMIM:620103 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | | | | 184 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | . | | | 197 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | | | | 197 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:311360 | Premature ovarian failure 1 | | | | 30 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | | | | 63 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:617349 | AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11 | | | | 23 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FSHB CL E G H | 2488 | 3964 | OMIM:229070 | Hypogonadotropic hypogonadism 24 without anosmia | | | | 23 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | | | | 33 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | | | | 109 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | | | | 160 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GANAB CL E G H | 23193 | 4138 | OMIM:600666 | Polycystic kidney disease 3 | | | | 6 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GATAD1 CL E G H | 57798 | 29941 | OMIM:614672 | Cardiomyopathy, dilated, 2B | | | | 35 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | . | | | 86 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GCGR CL E G H | 2642 | 4192 | OMIM:619290 | MAHVASH DISEASE; MVAH | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GCK CL E G H | 2645 | 4195 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 237 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | | | | 237 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GCNA CL E G H | 93953 | 15805 | OMIM:301077 | SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GGCX CL E G H | 2677 | 4247 | OMIM:610842 | PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | | | | 129 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GGN CL E G H | 199720 | 18869 | OMIM:619826 | SPERMATOGENIC FAILURE 69; SPGF69 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:614049 | Atrial fibrillation, familial, 11 | | | | 39 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GNAI2 CL E G H | 2771 | 4385 | OMIM:192605 | Ventricular tachycardia, familial | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GNAL CL E G H | 2774 | 4388 | OMIM:615073 | Dystonia 25 | | | | 13 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | . | | | 173 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GPD2 CL E G H | 2820 | 4456 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GRN CL E G H | 2896 | 4601 | OMIM:614706 | Ceroid lipofuscinosis, neuronal, 11 | | | | 126 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GSN CL E G H | 2934 | 4620 | OMIM:105120 | Amyloidosis, Finnish type | . | | | 53 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:613507 | Glycogen storage disease XV | | | | 18 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | H6PD CL E G H | 9563 | 4795 | OMIM:604931 | Cortisone reductase deficiency 1 | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | | | | 15 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HCN4 CL E G H | 10021 | 16882 | OMIM:163800 | Sick sinus syndrome 2 | | | | 185 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HFE CL E G H | 3077 | 4886 | OMIM:104300 | Alzheimer disease | | | | 38 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176200 | Porphyria variegata | | | | 38 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | | | | 77 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HKDC1 CL E G H | 80201 | 23302 | OMIM:619614 | RETINITIS PIGMENTOSA 92; RP92 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HMGA1 CL E G H | 3159 | 5010 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 161 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 90 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 138 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HSFY1 CL E G H | 86614 | 18568 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | . | | | 47 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HSPB8 CL E G H | 26353 | 30171 | OMIM:608673 | Charcot-Marie-Tooth disease, axonal, type 2L | | | | 38 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | | | | 34 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:619585 | SPERMATOGENIC FAILURE 58; SPGF58 | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IGF2BP2 CL E G H | 10644 | 28867 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IMPG1 CL E G H | 3617 | 6055 | OMIM:616151 | Macular dystrophy, vitelliform, 4 | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:616152 | Macular dystrophy, vitelliform, 5 | | | | 120 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | | | | 135 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | | | | 229 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IRS1 CL E G H | 3667 | 6125 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | IRS2 CL E G H | 8660 | 6126 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:616079 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:600880 | Budd-Chiari syndrome | | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | JPH2 CL E G H | 57158 | 14202 | OMIM:613873 | Cardiomyopathy, familial hypertrophic, 17 | | | | 111 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | JUP CL E G H | 3728 | 6207 | OMIM:611528 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 | | | | 222 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNA5 CL E G H | 3741 | 6224 | OMIM:612240 | Atrial fibrillation, familial, 7 | | | | 38 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | | | | 17 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:616399 | Brugada syndrome 9 | | | | 35 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNE1 CL E G H | 3753 | 6240 | OMIM:613695 | Long QT syndrome 5 | | | | 148 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNE2 CL E G H | 9992 | 6242 | OMIM:611493 | ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 | | | | 43 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNE2 CL E G H | 9992 | 6242 | OMIM:613693 | Long QT syndrome 6 | | | | 43 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNH2 CL E G H | 3757 | 6251 | OMIM:613688 | Long QT syndrome 2 | | | | 901 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 127 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | | | | 10 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:613980 | Atrial fibrillation, familial, 9 | | | | 193 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613485 | Long QT syndrome 13 | | | | 128 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNK3 CL E G H | 3777 | 6278 | OMIM:615344 | Pulmonary hypertension, primary, 4 | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:607554 | Atrial fibrillation, familial, 3 | | | | 730 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KDM5D CL E G H | 8284 | 11115 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | | | | 202 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617921 | Amyotrophic lateral sclerosis, susceptibility to, 25 | . | | | 93 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KLKB1 CL E G H | 3818 | 6371 | OMIM:612423 | PREKALLIKREIN DEFICIENCY | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KNG1 CL E G H | 3827 | 6383 | OMIM:619363 | ANGIOEDEMA, HEREDITARY, 6; HAE6 | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:260350 | Pancreatic cancer | | | | 196 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LAMA4 CL E G H | 3910 | 6484 | OMIM:615235 | Cardiomyopathy, dilated, 1jj | | | | 279 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:601493 | Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction | | | | 286 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | | | | 286 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LGI1 CL E G H | 9211 | 6572 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 75 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LIG4 CL E G H | 3981 | 6601 | OMIM:254500 | Multiple myeloma | | | | 88 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 35 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | | | | 74 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LMF1 CL E G H | 64788 | 14154 | OMIM:246650 | LIPASE DEFICIENCY, COMBINED | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:115200 | Cardiomyopathy, dilated, 1A | | | | 645 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | | | | 645 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | | | | 44 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:256020 | NAIL-PATELLA-LIKE RENAL DISEASE | | | | 165 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LRIF1 CL E G H | 55791 | 30299 | OMIM:619477 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | | | | 125 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | | | | 26 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | | | | 221 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:615670 | Schwannomatosis 2 | | | | 43 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | M1AP CL E G H | 130951 | 25183 | OMIM:619108 | SPERMATOGENIC FAILURE 48; SPGF48 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | | | | 63 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | | | | 53 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:619808 | DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAPK8IP1 CL E G H | 9479 | 6882 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | | | | 140 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | | | | 140 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:260540 | Supranuclear palsy, progressive atypical | . | | | 140 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | | | | 25 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | . | | | 80 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:606660 | MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | | | | 81 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MCM6 CL E G H | 4175 | 6949 | OMIM:223100 | LACTOSE INTOLERANCE, ADULT TYPE | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | . | | | 43 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MEI1 CL E G H | 150365 | 28613 | OMIM:618431 | Hydatidiform mole, recurrent, 3 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MEIOB CL E G H | 254528 | 28569 | OMIM:617706 | Spermatogenic failure 22 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MFAP5 CL E G H | 8076 | 29673 | OMIM:616166 | AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MICAL1 CL E G H | 64780 | 20619 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | | | | 1819 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MME CL E G H | 4311 | 7154 | OMIM:617017 | Charcot-Marie-Tooth disease, axonal, type 2T | . | | | 18 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MOV10L1 CL E G H | 54456 | 7201 | OMIM:619878 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MPEG1 CL E G H | 219972 | 29619 | OMIM:619223 | IMMUNODEFICIENCY 77; IMD77 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MPO CL E G H | 4353 | 7218 | OMIM:104300 | Alzheimer disease | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | | | | 2162 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MSH3 CL E G H | 4437 | 7326 | OMIM:617100 | Familial adenomatous polyposis 4 | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MSH4 CL E G H | 4438 | 7327 | OMIM:619938 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MSH4 CL E G H | 4438 | 7327 | OMIM:108420 | Spermatogenic failure 2 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MSH5 CL E G H | 4439 | 7328 | OMIM:619937 | | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:614350 | Colorectal cancer, hereditary nonpolyposis, type 5 | | | | 2232 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MTNR1B CL E G H | 4544 | 7464 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:607341 | Focal cortical dysplasia of taylor | . | | | 68 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | | | | 1143 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:615396 | Left ventricular noncompaction 10 | | | | 1143 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613252 | Cardiomyopathy, dilated, 1ee | | | | 452 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | | | | 452 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | | | | 1269 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:608758 | Cardiomyopathy, familial hypertrophic, 10 | | | | 131 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYL4 CL E G H | 4635 | 7585 | OMIM:617280 | Atrial fibrillation, familial, 18 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | . | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | | | | 75 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | . | | | 75 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:615248 | Cardiomyopathy, dilated, 1kk | | | | 217 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | | | | 217 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 24 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 32 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NEXN CL E G H | 91624 | 29557 | OMIM:613122 | Cardiomyopathy, dilated, 1cc | | | | 167 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NEXN CL E G H | 91624 | 29557 | OMIM:613876 | Cardiomyopathy, familial hypertrophic, 20 | | | | 167 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 220 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:101000 | Neurofibromatosis, type II | | | | 220 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:162091 | SCHWANNOMATOSIS | | | | 220 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | | | | 217 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:148200 | Keratoendotheliitis fugax hereditaria | | | | 217 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NLRP7 CL E G H | 199713 | 22947 | OMIM:231090 | Hydatidiform mole, recurrent, 1 | | | | 171 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NOL3 CL E G H | 8996 | 7869 | OMIM:614937 | Myoclonus, familial cortical | . | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:104300 | Alzheimer disease | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:601367 | STROKE, ISCHEMIC | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | . | | | 144 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | | | | 258 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NPPA CL E G H | 4878 | 7939 | OMIM:612201 | Atrial fibrillation, familial, 6 | | | | 13 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | | | | 48 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | | | | 27 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | NUTM2B-AS1 CL E G H | 101060691 | 51204 | OMIM:618637 | OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | OSMR CL E G H | 9180 | 8507 | OMIM:105250 | Amyloidosis, primary localized cutaneous, 1 | . | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | . | | | 10 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616371 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4 | | | | 26 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PATL2 CL E G H | 197135 | 33630 | OMIM:617743 | Oocyte maturation defect 4 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:616002 | Focal segmental glomerulosclerosis 7 | | | | 39 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 55 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | | | | 13 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | | | | 28 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDHA2 CL E G H | 5161 | 8807 | OMIM:619828 | SPERMATOGENIC FAILURE 70; SPGF70 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 30 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300818 | Paroxysmal nocturnal hemoglobinuria | | | | 46 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | | | | 563 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PKP2 CL E G H | 5318 | 9024 | OMIM:609040 | Arrhythmogenic right ventricular dysplasia, familial, 9 | | | | 406 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLAU CL E G H | 5328 | 9052 | OMIM:104300 | Alzheimer disease | | | | 50 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | | | | 186 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLG CL E G H | 5340 | 9071 | OMIM:619360 | ANGIOEDEMA, HEREDITARY, 4; HAE4 | | | | 11 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLIN1 CL E G H | 5346 | 9076 | OMIM:613877 | Lipodystrophy, familial partial, type 4 | | | | 19 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLN CL E G H | 5350 | 9080 | OMIM:609909 | Cardiomyopathy, dilated, 1P | | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PLN CL E G H | 5350 | 9080 | OMIM:613874 | Cardiomyopathy, familial hypertrophic, 18 | | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | | | | 79 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PMVK CL E G H | 10654 | 9141 | OMIM:175800 | Porokeratosis 1, multiple types | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | . | | | 244 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PNLDC1 CL E G H | 154197 | 21185 | OMIM:619528 | SPERMATOGENIC FAILURE 57; SPGF57 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POF1B CL E G H | 79983 | 13711 | OMIM:300604 | Premature ovarian failure 2B | | | | 31 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615083 | Colorectal cancer, susceptibility to, 12 | . | | | 1129 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | HP:0040282 - Frequent | | | 464 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POT1 CL E G H | 25913 | 17284 | OMIM:616568 | Glioma susceptibility 9 | . | | | 23 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | POT1 CL E G H | 25913 | 17284 | OMIM:615848 | Melanoma, cutaneous malignant, susceptibility to, 10 | . | | | 23 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 42 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | | | | 42 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PPOX CL E G H | 5498 | 9280 | OMIM:176200 | Porphyria variegata | | | | 41 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PPP1R3A CL E G H | 5506 | 9291 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618420 | Spermatogenic failure 36 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRDM16 CL E G H | 63976 | 14000 | OMIM:615373 | Left ventricular noncompaction 8 | | | | 148 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:194200 | WOLFF-PARKINSON-WHITE SYNDROME | | | | 235 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKCH CL E G H | 5583 | 9403 | OMIM:601367 | STROKE, ISCHEMIC | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKCSH CL E G H | 5589 | 9411 | OMIM:174050 | Polycystic liver disease 1 with or without kidney cysts | . | | | 63 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKG1 CL E G H | 5592 | 9414 | OMIM:615436 | AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8 | | | | 41 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | | | | 138 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | | | | 37 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | . | | | 69 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:603218 | Huntington disease-like 1 | | | | 69 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 25 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608161 | Macular dystrophy, vitelliform, 3 | | | | 159 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRY CL E G H | 9081 | 14024 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PRY2 CL E G H | 442862 | 21504 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:619491 | PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24 | | | | 81 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613694 | Cardiomyopathy, dilated, 1U | | | | 241 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | | | | 241 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:606889 | Alzheimer disease 4 | | | | 59 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:613697 | Cardiomyopathy, dilated, 1V | | | | 59 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 948 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PTPN1 CL E G H | 5770 | 9642 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RAB39B CL E G H | 116442 | 16499 | OMIM:311510 | Waisman syndrome | | | | 34 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:615916 | Cardiomyopathy, dilated, 1nn | | | | 212 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RAPGEF2 CL E G H | 9693 | 16854 | OMIM:618075 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RBM20 CL E G H | 282996 | 27424 | OMIM:613172 | Cardiomyopathy, dilated, 1dd | | | | 363 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RBMY1A1 CL E G H | 5940 | 9912 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | | | | 108 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RCBTB1 CL E G H | 55213 | 18243 | OMIM:617175 | RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA | | | | 8 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | | | | 87 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RELN CL E G H | 5649 | 9957 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 334 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RETN CL E G H | 56729 | 20389 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RIPOR2 CL E G H | 9750 | 13872 | OMIM:607017 | Deafness, autosomal dominant 21 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:608984 | Ataxia, sensory, autosomal dominant | . | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | | | | 111 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RPL10L CL E G H | 140801 | 17976 | OMIM:619689 | SPERMATOGENIC FAILURE 63; SPGF63 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RPS14 CL E G H | 6208 | 10387 | OMIM:153550 | Chromosome 5q deletion syndrome | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RPS4Y2 CL E G H | 140032 | 18501 | OMIM:415000 | SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | | | | 125 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:616373 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3 | | | | 77 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RYR2 CL E G H | 6262 | 10484 | OMIM:600996 | Arrhythmogenic right ventricular dysplasia, familial, 2 | | | | 1103 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | RYR2 CL E G H | 6262 | 10484 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 1103 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN10A CL E G H | 6336 | 10582 | OMIM:615551 | EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2 | | | | 146 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | | | | 1053 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:615377 | Atrial fibrillation, familial, 13 | | | | 126 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN2B CL E G H | 6327 | 10589 | OMIM:615378 | Atrial fibrillation, familial, 14 | | | | 21 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN3B CL E G H | 55800 | 20665 | OMIM:613120 | Brugada syndrome 7 | | | | 122 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | | | | 263 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN4B CL E G H | 6330 | 10592 | OMIM:611819 | Long QT syndrome 10 | | | | 110 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:614022 | Atrial fibrillation, familial, 10 | | | | 1134 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:601154 | Cardiomyopathy, dilated, 1E | | | | 1134 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:603830 | Long QT syndrome 3 | | | | 1134 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHAF2 CL E G H | 54949 | 26034 | OMIM:601650 | Paragangliomas 2 | . | | | 55 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | | | | 60 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SEC63 CL E G H | 11231 | 21082 | OMIM:617004 | Polycystic liver disease 2 | . | | | 137 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SELENBP1 CL E G H | 8991 | 10719 | OMIM:618148 | Extraoral halitosis due to MTO deficiency | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | | | | 131 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | | | | 64 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:610504 | Preterm premature rupture of the membranes | | | | 52 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | | | | 162 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SFTPA1 CL E G H | 653509 | 10798 | OMIM:619611 | INTERSTITIAL LUNG DISEASE 1; ILD1 | | | | 19 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:606685 | CARDIOMYOPATHY, DILATED, 1L; CMD1L | | | | 223 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:613353 | Mononeuropathy of the median nerve, mild | | | | 493 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:613950 | Schizophrenia 15 | | | | 53 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SHOC1 CL E G H | 158401 | 26535 | OMIM:619949 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC17A9 CL E G H | 63910 | 16192 | OMIM:616063 | Porokeratosis 8, disseminated superficial Actinic type | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | | | | 55 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | | | | 82 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC26A8 CL E G H | 116369 | 14468 | OMIM:606766 | Spermatogenic failure 3 | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 71 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC30A8 CL E G H | 169026 | 20303 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 3 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC34A2 CL E G H | 10568 | 11020 | OMIM:265100 | Pulmonary alveolar microlithiasis | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC44A4 CL E G H | 80736 | 13941 | OMIM:617606 | Deafness, autosomal dominant 72 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC4A11 CL E G H | 83959 | 16438 | OMIM:217400 | Corneal endothelial dystrophy and perceptive deafness | | | | 66 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | | | | 89 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLC7A6OS CL E G H | 84138 | 25807 | OMIM:619191 | EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619656 | LOEYS-DIETZ SYNDROME 6; LDS6 | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:260350 | Pancreatic cancer | | | | 504 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:162091 | SCHWANNOMATOSIS | | | | 87 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 47 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | | | | 164 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:605543 | Parkinson disease 4 | | | | 65 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | | | | 35 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | | | | 6 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SNTA1 CL E G H | 6640 | 11167 | OMIM:612955 | Long QT syndrome 12 | | | | 118 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 53 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | | | | 26 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPAG17 CL E G H | 200162 | 26620 | OMIM:619380 | SPERMATOGENIC FAILURE 55; SPGF55 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:602099 | Amyotrophic lateral sclerosis 5, juvenile | | | | 287 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | | | | 28 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:260350 | Pancreatic cancer | | | | 740 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STOX1 CL E G H | 219736 | 23508 | OMIM:609404 | Preeclampsia/eclampsia 4 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STRC CL E G H | 161497 | 16035 | OMIM:612997 | Spermatogenic failure 7 | | | | 78 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 124 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SYCE1 CL E G H | 93426 | 28852 | OMIM:616950 | Spermatogenic failure 15 | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SYCP2 CL E G H | 10388 | 11490 | OMIM:258150 | SPERMATOGENIC FAILURE 1; SPGF1 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SYCP3 CL E G H | 50511 | 18130 | OMIM:270960 | Spermatogenic failure 4 | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:610743 | Spinocerebellar ataxia, autosomal recessive 8 | . | | | 1129 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:314250 | Dystonia 3, torsion, X-linked | . | | | 21 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TAF4B CL E G H | 6875 | 11538 | OMIM:615841 | Spermatogenic failure 13 | | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | | | | 65 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:616044 | Deafness, autosomal dominant 65 | | | | 271 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:617900 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | | | | 20 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:607487 | Cardiomyopathy, familial hypertrophic, 25 | | | | 78 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TCF7L2 CL E G H | 6934 | 11641 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TECRL CL E G H | 253017 | 27365 | OMIM:614021 | Ventricular tachycardia, catecholaminergic polymorphic, 3 | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TERB1 CL E G H | 283847 | 26675 | OMIM:619646 | SPERMATOGENIC FAILURE 60; SPGF60 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TERB2 CL E G H | 145645 | 28520 | OMIM:619645 | SPERMATOGENIC FAILURE 59; SPGF59 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TERC CL E G H | 7012 | 11727 | OMIM:614743 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 | . | | | 48 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:121820 | Corneal dystrophy, epithelial basement membrane | | | | 58 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:132800 | Multiple self-healing squamous epithelioma | | | | 239 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | . | | | 58 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | | | | 42 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | THBD CL E G H | 7056 | 11784 | OMIM:614486 | Thrombophilia due to thrombomodulin defect | | | | 60 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | THSD1 CL E G H | 55901 | 17754 | OMIM:618734 | ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:619133 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26 | | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | . | | | 5 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TIE1 CL E G H | 7075 | 11809 | OMIM:619401 | LYMPHATIC MALFORMATION 11; LMPHM11 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TIMP3 CL E G H | 7078 | 11822 | OMIM:136900 | Sorsby fundus dystrophy | | | | 95 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:604400 | Arrhythmogenic right ventricular dysplasia, familial, 5 | | | | 171 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:619832 | AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3 | | | | 171 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:614302 | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | . | | | 171 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:613494 | Immunodeficiency, common variable, 4 | | | | 12 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:611879 | CARDIOMYOPATHY, DILATED, 1Z; CMD1Z | | | | 73 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | | | | 73 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613286 | Cardiomyopathy, dilated, 1ff | | | | 180 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:611880 | Cardiomyopathy, dilated, 2A | | | | 180 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613690 | Cardiomyopathy, familial hypertrophic, 7 | | | | 180 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:601494 | Cardiomyopathy, dilated, 1D | | | | 248 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:115195 | Cardiomyopathy, familial hypertrophic, 2 | | | | 248 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TNRC6A CL E G H | 27327 | 11969 | OMIM:618074 | EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | . | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | | | | 47 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | | | | 10 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:260350 | Pancreatic cancer | | | | 911 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:260500 | Papilloma of choroid plexus | | | | 911 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TPM1 CL E G H | 7168 | 12010 | OMIM:611878 | Cardiomyopathy, dilated, 1Y | | | | 230 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TRDN CL E G H | 10345 | 12261 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 145 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | | | | 4 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | . | | | 1 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:607341 | Focal cortical dysplasia of taylor | . | | | 1090 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:607341 | Focal cortical dysplasia of taylor | . | | | 2738 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTBK2 CL E G H | 146057 | 19141 | OMIM:604432 | Spinocerebellar ataxia 11 | . | | | 57 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTC21A CL E G H | 199223 | 30761 | OMIM:618429 | Spermatogenic failure 37 | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | | | | 9 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTN CL E G H | 7273 | 12403 | OMIM:604145 | CARDIOMYOPATHY, DILATED, 1G; CMD1G | | | | 7128 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTN CL E G H | 7273 | 12403 | OMIM:613765 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9 | | | | 7128 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | | | | 7128 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | . | | | 7128 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | | | | 66 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0003581 | HP:0003581 | Adult onset | 0 | TYROBP CL E G H | 7305 | |