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:0003584 | HP:0003584 | Late onset | 0 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | . | | | 7 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | | | | 3 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 245 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | | | | 4 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | AKT2 CL E G H | 208 | 392 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 12 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ANLN CL E G H | 54443 | 14082 | OMIM:616032 | Focal segmental glomerulosclerosis 8 | | | | 6 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:617839 | Amyotrophic lateral sclerosis 23 | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | APOE CL E G H | 348 | 613 | OMIM:104310 | Alzheimer disease 2 | . | | | 39 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0003584 | HP:0003584 | Late 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:0003584 | HP:0003584 | Late onset | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | | | | 11 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:613881 | Cardiomyopathy, dilated, 1hh | | | | 204 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | | | | 184 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | HP:0040282 - Frequent | | | 1 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | BLVRA CL E G H | 644 | 1062 | OMIM:614156 | Hyperbiliverdinemia | | | | 2 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | | | | 323 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:615343 | Pulmonary hypertension, primary, 3 | | | | 11 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CCNF CL E G H | 899 | 1591 | OMIM:619141 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5 | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | | | | 11 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CLEC3B CL E G H | 7123 | 11891 | OMIM:619977 | | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | | | | 143 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:619132 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8 | | | | 126 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | | | | 268 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 151 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613244 | Colorectal cancer, hereditary nonpolyposis, type 8 | | | | 170 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | ERBB4 CL E G H | 2066 | 3432 | OMIM:615515 | Amyotrophic lateral sclerosis 19 | | | | 15 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | GANAB CL E G H | 23193 | 4138 | OMIM:600666 | Polycystic kidney disease 3 | | | | 6 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | GCK CL E G H | 2645 | 4195 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 237 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | | | | 1 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | GPD2 CL E G H | 2820 | 4456 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | HMGA1 CL E G H | 3159 | 5010 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 161 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 90 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 138 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | | | | 34 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | IGF2BP2 CL E G H | 10644 | 28867 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 2 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:616152 | Macular dystrophy, vitelliform, 5 | | | | 120 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | IRS1 CL E G H | 3667 | 6125 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 5 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | IRS2 CL E G H | 8660 | 6126 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | | | | 57 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | KCNE2 CL E G H | 9992 | 6242 | OMIM:611493 | ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 | | | | 43 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 127 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | KLKB1 CL E G H | 3818 | 6371 | OMIM:612423 | PREKALLIKREIN DEFICIENCY | | | | 8 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | | | | 19 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | LAMA4 CL E G H | 3910 | 6484 | OMIM:615235 | Cardiomyopathy, dilated, 1jj | | | | 279 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | . | | | 286 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 35 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:256020 | NAIL-PATELLA-LIKE RENAL DISEASE | | | | 165 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | | | | 221 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MAPK8IP1 CL E G H | 9479 | 6882 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | | | | 140 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MTNR1B CL E G H | 4544 | 7464 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 4 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:615396 | Left ventricular noncompaction 10 | | | | 1143 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | | | | 452 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:615248 | Cardiomyopathy, dilated, 1kk | | | | 217 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | NEUROD1 CL E G H | 4760 | 7762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 32 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | NEXN CL E G H | 91624 | 29557 | OMIM:613122 | Cardiomyopathy, dilated, 1cc | | | | 167 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | | | | 27 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | | | | 10 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 55 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | | | | 28 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 30 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 42 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | PPP1R3A CL E G H | 5506 | 9291 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 12 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:613697 | Cardiomyopathy, dilated, 1V | | | | 59 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | PTPN1 CL E G H | 5770 | 9642 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | RETN CL E G H | 56729 | 20389 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 1 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | RPS14 CL E G H | 6208 | 10387 | OMIM:153550 | Chromosome 5q deletion syndrome | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | RYR2 CL E G H | 6262 | 10484 | OMIM:600996 | Arrhythmogenic right ventricular dysplasia, familial, 2 | | | | 1103 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | | | | 60 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | SFTPA1 CL E G H | 653509 | 10798 | OMIM:619611 | INTERSTITIAL LUNG DISEASE 1; ILD1 | | | | 19 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 71 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | SLC30A8 CL E G H | 169026 | 20303 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 3 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | | | | 35 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | | | | 65 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | | | | 7 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TCF7L2 CL E G H | 6934 | 11641 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 4 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | THSD1 CL E G H | 55901 | 17754 | OMIM:618734 | ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12 | | | | 2 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:619133 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26 | | | | 5 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TMEM43 CL E G H | 79188 | 28472 | OMIM:619832 | AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3; AUNA3 | | | | 171 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:611879 | CARDIOMYOPATHY, DILATED, 1Z; CMD1Z | | | | 73 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TPM1 CL E G H | 7168 | 12010 | OMIM:611878 | Cardiomyopathy, dilated, 1Y | | | | 230 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0003584 | HP:0003584 | Late onset | 0 | VCL CL E G H | 7414 | 12665 | OMIM:613255 | Cardiomyopathy, familial hypertrophic, 15 | | | | 248 | | |
HP:0003584 | HP:0003584 | Late onset | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:125853 | Diabetes mellitus, noninsulin-dependent | . | | | 389 | | |