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:0001907 | HP:0001907 | Thromboembolism | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | | | | 22 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99105 | Atrial septal defect, sinus venosus type | HP:0040284 - Very rare | | | 5 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | EPOR CL E G H | 2057 | 3416 | ORPHA:90042 | Primary familial polycythemia | HP:0040283 - Occasional | | | 43 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | F12 CL E G H | 2161 | 3530 | ORPHA:330 | Congenital factor XII deficiency | HP:0040283 - Occasional | | | 28 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 60 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | F2 CL E G H | 2147 | 3535 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 44 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | HP:0040281 - Very frequent | | | | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | 197 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | HABP2 CL E G H | 3026 | 4798 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 58 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | HRG CL E G H | 3273 | 5181 | OMIM:613116 | Thrombophilia due to histidine-rich glycoprotein deficiency | | | | 4 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:607554 | Atrial fibrillation, familial, 3 | | | | 730 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | KIF20A CL E G H | 10112 | 9787 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | | | | 183 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 183 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040283 - Occasional | | | 88 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | | | | 1269 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | 217 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | NPPA CL E G H | 4878 | 7939 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 13 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 36 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040283 - Occasional | | | 134 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:1344 | Atrial standstill | HP:0040283 - Occasional | | | 1134 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | | | | 88 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | 180 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:75249 | Familial isolated restrictive cardiomyopathy | HP:0040284 - Very rare | | | 248 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0001907 | HP:0001907 | Thromboembolism | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0001907 | HP:0033553 | Septic embolism | 1 | CL E G H | | | | | | | | | | |
HP:0001907 | HP:0033520 | Paradoxical embolism | 1 | CL E G H | | | | | | | | | | |
HP:0001907 | HP:0001727 | Thromboembolic stroke | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:820 | Sneddon syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0001907 | HP:0004831 | Recurrent thromboembolism | 1 | HRG CL E G H | 3273 | 5181 | OMIM:613116 | Thrombophilia due to histidine-rich glycoprotein deficiency | . | | | 4 | | |
HP:0001907 | HP:0001727 | Thromboembolic stroke | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:607554 | Atrial fibrillation, familial, 3 | | | | 730 | | |
HP:0001907 | HP:0001727 | Thromboembolic stroke | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0001907 | HP:0034192 | Pulmonary thromboembolism | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | | | | 1269 | | |
HP:0001907 | HP:0004831 | Recurrent thromboembolism | 1 | SERPINC1 CL E G H | 462 | 775 | ORPHA:82 | Hereditary thrombophilia due to congenital antithrombin deficiency | HP:0040282 - Frequent | | | 88 | | |
HP:0001907 | HP:0033639 | Septic pulmonary embolism | 2 | CL E G H | | | | | | | | | | |