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:0033763 | HP:0033763 | Death in adulthood | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | | | | 72 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | APP CL E G H | 351 | 620 | ORPHA:100006 | ABeta amyloidosis, Dutch type | | | | 74 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | BCS1L CL E G H | 617 | 1020 | ORPHA:53693 | GRACILE syndrome | | | | 72 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | CST3 CL E G H | 1471 | 2475 | ORPHA:100008 | ACys amyloidosis | | | | 3 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | | | | 170 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | | | | 15 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | | | | 196 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:619786 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B | | | | 135 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | | | | 1819 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | | | | 131 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | | | | 2162 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | | | | 2232 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | | | | 452 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | | | | 162 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | | | | 56 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | | | | 1121 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | | | | 93 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | | | | 253 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613286 | Cardiomyopathy, dilated, 1ff | | | | 180 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0033763 | HP:0033763 | Death in adulthood | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0033763 | HP:0033765 | Death in late adulthood | 1 | CL E G H | | | | | | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | APP CL E G H | 351 | 620 | ORPHA:100006 | ABeta amyloidosis, Dutch type | HP:0040283 - Occasional | | | 74 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | BCS1L CL E G H | 617 | 1020 | ORPHA:53693 | GRACILE syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | CST3 CL E G H | 1471 | 2475 | ORPHA:100008 | ACys amyloidosis | HP:0040283 - Occasional | | | 3 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 170 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | LAMC2 CL E G H | 3918 | 6493 | OMIM:619786 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B | | | | 135 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 1819 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 131 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 2162 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 2232 | | |
HP:0033763 | HP:0033764 | Death in middle age | 1 | MYH6 CL E G H | 4624 | 7576 | OMIM:613251 | Cardiomyopathy, familial hypertrophic, 14 | | | | 452 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 1121 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040283 - Occasional | | | 93 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 253 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0033764 | Death in middle age | 1 | TNNI3 CL E G H | 7137 | 11947 | OMIM:613286 | Cardiomyopathy, dilated, 1ff | | | | 180 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0033763 | HP:0100613 | Death in early adulthood | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |