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:0001658 | HP:0001658 | Myocardial infarction | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:604091 | HYPOALPHALIPOPROTEINEMIA, PRIMARY | | | | 191 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:614473 | Arterial calcification, generalized, of infancy, 2 | HP:0040283 - Occasional | | | 415 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 67 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 76 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | | | | 129 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 356 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | BCHE CL E G H | 590 | 983 | ORPHA:132 | Butyrylcholinesterase deficiency | HP:0040284 - Very rare | | | 67 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040284 - Very rare | | | 276 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 276 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | . | | | 242 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CELA2A CL E G H | 63036 | 24609 | OMIM:618620 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 | | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | . | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 1371 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040284 - Very rare | | | 88 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | . | | | 114 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | DYRK1B CL E G H | 9149 | 3092 | OMIM:615812 | Abdominal obesity-metabolic syndrome 3 | . | | | 7 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:208000 | Arterial calcification, generalized, of infancy, 1 | . | | | 151 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | HP:0040283 - Occasional | | | 77 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 31 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 57 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 2157 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 73 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:176670 | Hutchinson-Gilford progeria syndrome | . | | | 645 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | LPL CL E G H | 4023 | 6677 | OMIM:144250 | Hyperlipidemia, familial combined, 3 | | | | 106 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | . | | | 26 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | MEF2A CL E G H | 4205 | 6993 | OMIM:608320 | Coronary artery disease, autosomal dominant, 1 | . | | | 5 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040283 - Occasional | | | 281 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 97 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | MYH9 CL E G H | 4627 | 7579 | OMIM:155100 | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | . | | | 297 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | HP:0040284 - Very rare | | | 297 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 178 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 291 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 212 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 67 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 61 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040283 - Occasional | | | 57 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040281 - Very frequent | | | 911 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 490 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0001658 | HP:0001658 | Myocardial infarction | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |